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Vampir Hastalığı - Porfiria   ( En ilginç hastalıklar )

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Uploaded by Merakını Gider on 2016-05-05.

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Brothers Suffer From Rare Condition Similar To Vampirism

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Brothers Suffer From Rare Condition Similar To Vampirism SUBSCRIBE: http://bit.ly/Oc61Hj Simon and George Cullen have a rare disease similar to vampirism, which gives them characteristic traits similar to vampires. Simon, 13, and his brother George, 11 both suffer from Hypohidrotic Ectodermal Dysplasia (HED), an extremely rare condition also known as 'vampirism' that only affects 7,000 worldwide.

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MİLLİYET HABER - TÜRKİYE'NİN HABER SİTESİ

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İHA

Hastanın şu anda hastanede gözetim altında tutulduğunu belirten Dr. Sakarya, hastanın hayatı boyunca travma üstüne travma yaşamasından şüphelendiklerini kaydetti.

Dünyanın en prestijli dergilerinden "Journal of Psychotherapy and Psychosomatics" son sayısında, dünyanın ilk vampiri olduğu tespit edilen 23 yaşındaki bir Türk'ün tıbbi hikayesine yer verdi. Dergide yayımlanan ve dünya tıp literatüründe "vampirizm" olarak belirti gösteren bir Türk gencinin yaşadığı "dissosiyatif kişilik bozukluğu" rahatsızlığını konu edinen makaleyi yazan Dr. Direnç Sakarya, hastanın kan içme davranışının bir bağımlılık olmadığını belirterek, bunun yaşadığı ruhsal bozukluğun verdiği bir sonuçtan kaynaklandığını söyledi.

Kastamonu Dr. Münif İsalmoğlu Devlet Hastanesi'nde görev yapan Psikiyatri Doktoru Direnç Sakarya, Denizli Askeri Hastanesi'nde 2011 yılında rahatsızlığı nedeniyle böyle bir hastayla karşılaştıklarını ifade ederek, o denemde bu hastanın evli ve 23 yaşında olduğunu söyledi.

Hastanın tedavisini Prof. Dr. Vedat Şar, Doç. Dr. Erdinç Öztürk ve Dr. Cengiz Güneş ile birlikte gerçekleştirdiklerini açıklayan Dr. Sakarya, kendilerine gelen hastanın ilk bulgularında çoklu kişilik sorunu, travma sonrası stres bozukluğu, kronik depresyon ve alkol bağımlılığı yaşadığını tespit ettiklerini ifade ederek, "Hasta öyküsü ve yapılan araştırmalar sonucunda hastanın "vampirizm" belirtisi gösteren dünyanın ilk "dissosiyatif kimlik bozukluğu" hastası olduğu kanısına vardık" dedi.

VAMPİR ÖZELLİĞİ GÖSTEREN İLK HASTA

Ailesinin çabalarıyla tedavi olmak için doktora gitmeye zorlanan genci Denizli'deki askeri hastanede diğer meslektaşlarıyla birlikte tedavi altına aldıklarını aktaran Doktor Direnç Sarıkaya, "İlk bulgularımızdan yola çıkarak hastanın "vampir özelliği" gösteren ilk hasta olduğuna karar verdik" diye konuştu.

5 VE 11 YAŞ ARASINI HATIRLAMIYOR

Araştırmacılar sonucunda hastanın 4 aylık kızını kaybettiğini, amcasının önünde öldürüldüğünü, bir arkadaşının önünde cinayet işlediğini, çocukken annesinin ona sık sık saldırdığını ve 5 ile 11 yaş arasında hiçbir şey hatırlamadığını belirten Dr. Sakarya, ismini açıklamadığı hastanın 3 ay arayla hastaneye iki kez yatırılarak tedavi uygulamaya başladıklarını kaydetti.

Uygulanan tedavinin önemli ölçüde başarı sağlandığını anlatan Sakarya, "O dönemde uyguladığımız tedaviden hasta fayda gördü. Hastanın kan içme davranışı bir bağımlılık değildi, altta yatan ruhsal bozukluğun sonucuydu. Bu bozukluğa odaklanmak, kan içme davranışının sonlanmasına neden oldu. Hastanın problem yaratan davranışları geçince sosyal hayata katıldı. Bizim bu vaka üzerinde durmamamızın nedeni travmatik stres ile şiddete başvurma arasındaki ilişkiyi araştırmaktı.

Burada sözü edilen kişi, hayatta pek çok güçlükle karşılaşmış ve yardım arayan konumdaydı. Bu tür davranışların nedeni başkalarına karşı kötü niyetli olması değildi" ifadelerini kullandı.

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Journal of Psychotherapy and Psychosomatics'te yayımlanan ve dünya tıp literatüründe "vampirizm" olarak belirti gösteren ilk vaka olarak geçen bir Türk gencinin yaşadığı "dissosiyatif kişilik bozukluğu" rahatsızlığını konu edinen makaleyi yazan psikiyatri doktoru Direnç Sakarya, bu durumun hastanın yaşadığı ruhsal bozukluğun bir sonucu olduğunu bildirdi.

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Öncelikle şunu söyleyerek yazıma başlamak isterim bu hastalığın resimleri rahatsız edici resimler olduğu için bu yazımda gerçek resim kullanmayacağım. İncelemek isteyen arkadaşlar internet üzerinden Porfiria yazarak resimlere ulaşa bilirler.
Şimdi yazımıza dönelim.
Bu hastalık temel olarak 2 çeşittir
1-Akut Porfiria 2-Kutanoz Porfirina
Akut porfiria sinir sistemini etkileyerek karın ağrısı, bulantı-kusma, kas zayıflığı, nöbet geçirme gibi fiziksel bozukluklar ile halusinasyon, depresyon, anksiyete ve paranoya gibi ruhsal bozukluklara neden olur. Bu kadar çok çeşitte belirti olması ve hastalığın çok nadir görünmesi bu hastalığın teşhişini zorlaştıran bir etmendir. Akut porfiria hastaları genelde yüksek derecede karaciğer kanseri riski taşımaktadırlar.

Kutanoz porfiria bu grup hastalarda ciltte ışığa karşı duyarlılık, su olu yaralar, kaşıntı gibi belirtileri vardır ancak karın ağrısı bu grupta gözlenmez bu sebeble diğer porfirialardan ayrılır.

Vampir mitinin ortaya çıkmasında etkili bir hastalıktır gelin vampirlerle kutanoz porfiria hastalarının ortak yönlerini inceleyelim.

Bilindiği üzere vampirler güneş ışığına çıkarlarsa derileri yanar ve zarar görür Kutanoz porfiria hastalırınında en büyük zaaflarından biri güneş ışığıdır ışığa maruz kaldıklarında derileri dökülür sulanır ve uzun müddet kalırlarsa doku kaybı bile gerçekleşebilir, yumuşak dokularda bu daha belirgin görülür. Belirgin olarak görülebilecek olan durumlar dudaklarının kaybolması, parmaklarının dökülmesi. derilerinin dökülmesi, diş etleririr çekilmesikibunun sonucunda dişler sivri gözükür, burunlarının düşmesi gibi durumlardır.

Vampirlerin en büyük düşmanının sarımsak olduğunu biliyoruz Kutanoz porfiria hastalarında da benzer bir durum vardır bu hastalar sarımsak yerler ise hastalık hızlanır yaralar derinleşir daha da artar bu sebeple bu hastalar sarımsak yiyemezler.

Bu benzerliklere rağmen vampir mitinin bu hastalıktan kaynaklanmadığını iddia edenlerde var inanıp inanmamak ise elbetteki bu sizin tercihiniz .

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Vampir Hastalığı : Porfiria | Garip Bilgi

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Öncelikle şunu söyleyerek yazıma başlamak isterim bu hastalığın resimleri rahatsız edici resimler olduğu için bu yazımda gerçek resim kullanmayacağım. İncelemek isteyen arkadaşlar internet üzerinden Porfiria yazarak resimlere ulaşa bilirler. Şimdi yazımıza dönelim. Bu hastalık temel olarak 2 çeşittir 1-Akut Porfiria 2-Kutanoz Porfirina Akut porfiria sinir sistemini etkileyerek karın ağrısı, bulantı-kusma, kas zayıflığı, nöbet geçirme gibi fiziksel bozukluklar ile halusinasyon, depresyon, anksiyete ve paranoya gibi ruhsal bozukluklara neden olur.

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B y just having a glimpse at the heading many of us may think that a patient who is affected by such a disease may transform into some kind of fang gnashing , blood-drinking supernatural creature. However this kind of transformation is only confined to the movies. Beyond the realms of Hollywood it doesn't cause the victims to transform into a creature as described above.

The Vampires disease or Porphyria which is its scientific term is a set of genetic disorders in which an important part of hemoglobin called heme is not made properly which means there is malfunction of the hemoglobin production. People suffering from it face symptoms manifested by mythological vampires. Their skin is sensitive to sunlight, their urine is reddish to purplish in colour, the gums are shrunk making the teeth look more prominent and canine-like and they have an adverse reaction to garlic. Other major symptoms include abdominal pain or cramping (only in some forms of the disease), problems with the nervous system and muscles (seizures, mental disturbances, nerve damage).

four of these can sometimes cause sensitivity to light: There are about eight different types of porphyria ;
Erythropoietic Protoporphyria (EPP) or Protoporphyria, Congenital Erythropoietic Porphyria (C.E.P.), Porphyria Cutanea Tarda (PCT) and Variegate Porphyria. Taken together, all forms of porphyria afflict fewer than 2,00,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, porphyria cutanea tarda (PCT) is 1 in 10000, the most common acute porphyria, acute intermittent porphyria (AlP) is about 1 in 20000 and the most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated at 1 in 50000 to 75000. Congenital erythropoietic porphyria (CEP) is extremely rare with prevalence estimates of 1 in 1,000,000 or less.

Presently this condition is treated with a combination of high carbohydrate diet and avoiding triggers like alcohol and crash dieting that can lead to an attack. For attacks glucose is administered via intravenous line, iron is given and sometimes other medications are given to control the symptoms.
Thus people suffering from this disease shouldn't be feared because unlike the dreaded beasts of folklore and superstition they are no more than patients suffering from a rare class of genetic disorder who require medical aid as well as love and affection to lead a normal life like others in the world.

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'Porphyria' The Vampires Disease. - Unbelievable Facts

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By just having a glimpse at the heading many of us may think that a patient who is affected by such a disease may transform into some kind of fang gnashing , blood-drinking supernatural creature. However this kind of transformation is only confined to the movies.

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Porphyria: The Vampire Disease

By Dr. Peter W. Kujtan, B.Sc., M.D., Ph.D.

Article printed on page 23 in the October 29-30, 2005 issue of
The Mississauga News under the feature: Health & Wellness, Medical Matters.

Dr. Peter W. Kujtan

There exists a fairly rare group of genetic disorders that have unfairly branded many sufferers with the term "vampire". These poor souls are extremely sensitive to sunlight that can easily result in burns and abrasions, and so they prefer darkness. They suffer from acute attacks of abdominal pains, vomiting and loose stools. Their urine may have a purplish-red color leading some to wrongly believe that it results from drinking blood. Those afflicted may have increased hair growth, and with repeated damage, their skin tightens and shrinks. When this occurs around the mouth, the canine teeth appear to be more prominent, and suggestive of fangs. At other times, it causes depression and affects the brain to produce peculiar behavior. It is probably no surprise that garlic makes all the symptoms worse. Porphyria is a misunderstood condition that has affected the likes of Mary Queen of Scots and King George III.

Porphyria refers to a growing collection of disorders in which there are abnormalities in the enzymes involved in heme production. Heme is an iron-containing compound used throughout the body. The most common heme-containing substance found in our bodies is the hemoglobin in our red blood cells - an essential component to transport oxygen around our bodies. There are at least eight steps in the production of heme, and at least eight different types of porphyria can result when an enzyme malfunctions and levels of intermediate substances rise to beyond what the body is accustomed to. It is a condition that runs in families and is inherited. At one time, it was thought to be a dominant trait requiring only one gene from one parent, but there are recessive forms now identified in which genes need to come from both parents.

Porphyria is very difficult to diagnose. Its symptoms mimic those of a hundred other conditions. Traditional testing rarely shows a problem, and patients who develop recurrent acute attacks often require strong narcotics to control the abdominal pain. They often undergo surgery for appendicitis or ovarian conditions without positive findings, and then run the risk of being labeled with a narcotic addiction. There are no easy tests available to diagnose the various porphyria conditions. The best time to attempt diagnosis is when the symptoms are active. Special urine tests looking for PBG (porphobilinogen) and ALA (delta-aminolevulinic acid) can provide a starting clue. More intricate testing then follows in an attempt to make a precise diagnosis.

Porphyria sufferers are affected by anything that can alter the functioning of the deficient enzymes. This can occur to different degrees. Some people are affected so slightly that the diagnosis is never considered. Herbs, drugs, alcohol and even hormones can produce acute attacks by interfering with enzyme function. Sufferers are counseled as to which medications to avoid. Maintaining a hardy diet low in carbohydrates is essential. The best news of all is that if the diagnosis is considered, then infusing heme molecules produced in the laboratory can treat acute attacks. After all, heme is what the body is ultimately craving for when an attack occurs.

When encountering the supernatural, consider the evidence because it usually provides an alternately plausible explanation. Have a safe All Hallow's Eve, and remember that those vampires may be nothing more than ordinary people experiencing distress. Have a treat on me.

Related resources:

● About Porphyria, Porphyria Overview, Porphyria Types, Testing, Diet & Nutrition, Drugs & Porphyria, Special Considerations, History of Porphyria, from American Porphyria Foundation.

● What is porphyria? From British Porphyria Association. Living with porphyria, Acute porphyrias, Cutaneous (skin) porphyrias.

● Tests for Porphyria Diagnosis from American Porphyria Foundation. The porphyrin precursors porphobilinogen (PBG) and aminolevulinic acid (ALA) and porphyrins are readily measured in urine.

● Porphyria from Mayo Clinic, Jun 3, 2020. Symptoms & causes, Diagnosis & treatment, Doctors & departments. Porphyrins are essential for the function of hemoglobin - a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues. High levels of porphyrins can cause significant problems. There are two general categories of porphyria: acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms.

● Porphyria Videos from American Porphyria Foundation.

● Porphyria Awareness Videos from British Porphyria Association.

● Acute Porphyria Videos.

● Haemophilia and Porphyria - Royal diseases from Tainted Blood. YouTube video, 45:51 min. Published on May 1, 2011 by CampaignTB. "This programme explores how, in trying to preserve the bloodline, the monarchy may have spread genetic disease far and wide - from Porphyria wreaking havoc with British royals to Haemophilia finding its way from Buckingham Palace, all the way to Moscow."

● What is Porphyria?? (The Disease). YouTube video, 5:14 min. Published by deathbyporphyria, Dec 29, 2008. "The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme ... The largest problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations."

● Porphyria by Dr. Carlo A Oller, MD FACEP, Emergency Physician. YouTube video, 2:41 min. Published on Sep 21, 2011by DrER.tv. Comment from viewer Glen Eric Huysamer (2013): "There is a lot missing from this information video... there are three strains, it is a genetic decease passed on from the female, to the first born and then third and five child and so on.
The farther does not pass on the gene.
Males generally suffer more severely from the acute attacks than females (not to say that acute attacks are very debilitating to both genders, men just suffer more attacks)
There is no cure.
Alcohol and many other drugs (easily prescribed to others) can kill a porphyric."

● Porphyria from Wikipedia. "The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skin problems or occasionally both."

● Origins of vampire beliefs from Wikipedia.

● Origins of Belief in Vampires / How Vampires Work by Tom Harris, How Stuff Works. "One of the most interesting 'vampire diseases' is porphyria. Porphyria is a rare disease characterized by irregularities in production of heme, an iron-rich pigment in blood. People with the more severe forms of porphyria are highly sensitive to sunlight, experience severe abdominal pain and may suffer from acute delirium ... Some porphyria sufferers do have reddish mouths and teeth, due to irregular production of the heme pigment."

● Learning about Porphyria from genome.gov - NHGRI (National Human Genome Research Institute): What is porphyria? What are the signs and symptoms of porphyria? How is porphyria diagnosed? How is porphyria treated? What do we know about porphyria and heredity? What triggers a porphyria attack?

● Porphyria from MedicineNet. Symptoms, diagnosis, treatment.

● Vampires don't exist, but porphyria does by petitpwr. Posted May 29, 2012. CNN iReport.

● Introduction to Porphyria | Porphyria Cutanea Tarda vs. Acute Intermittent Porphyria. YouTube video, 12:03 min. Published by JJ Medicine, Mar 31, 2019. "Porphyrias are inherited metabolic disorders of the heme synthesis pathway, with a specific porphyria condition associated with each enzyme in the heme synthesis pathway. All of the porphyrias are rare conditions and have a varied clinical presentation that includes signs and symptoms involving the skin, GI system and nervous system."

● Genetic Disease, Porphyria (Also known as the Vampire Disease). YouTube video, 6:46 min. Informative slideshow with images. Uploaded on Apr 14, 2011 by heartcandiee.

● Haemophilia and Porphyria - Royal diseases from Tainted Blood. YouTube video, 45:51 min. Uploaded on May 1, 2011 by CampaignTB. "The Royal family has had many instances of unexplained illnesses and premature death during it's history - George III's 'madness', the downfall of Mary Queen of Scots and Rasputin bringing down the Russian throne, can all be linked back to Queen Victoria. This programme explores how, in trying to preserve the bloodline, the monarchy may have spread genetic disease far and wide - from Porphyria wreaking havoc with British royals to Haemophilia finding its way from Buckingham Palace, all the way to Moscow."

● King George III: Mad or misunderstood? From BBC.co.uk, 13 July 2014. "The king's hair was laden with arsenic. It contained over 300 times the toxic level ... Porphyria can be a devastating disease. In the acute form, it can cause severe abdominal pain, cramps, and even seizure-like epileptic fits ... Professor Warren knew that porphyria attacks can be triggered by a wide range of substances - alcohol, common medication, even monthly hormones. Perhaps arsenic could also be a trigger. He contacted Professor Tim Cox, an expert on extreme cases of porphyria at Addenbrookes Hospital in Cambridge. Professor Cox confirmed his guess - arsenic was listed as a trigger. And the massive levels found in King George's hair suggested that the arsenic had been liberally ingested over a long period of time ... His porphyric attacks had been brought on after a lifetime's arsenic accumulated in his body, and then were made much more prolonged and more severe by the medicine to treat him."

● Heme Synthesis and Porphyria - USMLEntertainment. YouTube video, 6:24 min. Published on Apr 18, 2013 by Study with Substance P.

● Porphyria Slide Share by Caroline Karunya, Student at Tbilisi States Medical University. Published on Mar 18, 2015.

Brothers Simon, 13, and George, 11, with Parents

● Brothers Suffer from Rare Condition Similar to Vampirism. YouTube video, 1:46 min. Uploaded on Feb 24, 2011 by Barcroft TV. "Simon and George Cullen have a rare disease similar to vampirism, which gives them characteristic traits similar to vampires. Simon, 13, and his brother George, 11 both suffer from Hypohidrotic Ectodermal Dysplasia (HED), an extremely rare condition also known as 'vampirism' that only affects 7,000 worldwide. The brothers blister after minutes in the sun because of their vampirism condition and have sharp pointed fang-like teeth that make them look a little like vampires - they also cannot sweat and are very pale. The boys, who live with mum Mandy and dad John, both 45, also share a name with another famous Vampire - Edward Cullen, from the Twilight series."

● More info and photos of Simon and George. Translated from Georgian: Hypohidrotic Ectodermal Dysplasia - This is a rare genetic davadebaa. It's only 7,000 people have the disease around the world. Disease of the skin of an anomaly, distropatsias teeth, rickets and other diseases cause. This disease in Britain, the brothers Simon and George calendar. [George and Simon Cullen]"

● What is the prevalence of porphyria? by Muhammad A Mir, MD, FACP, Gerald L Logue, MD, Chief Editor: Emmanuel C Besa, MD, Medscape, Apr 28, 2020.

● vampire syndrome disease. Posted June 23, 2011 by suryadarmadi in disease, vampire. Includes a photo of two boys with vampire syndrome disease.

● CNN Health lists Porphyria as one of the Ten mystery diseases you've never heard of. "Purple urine and feces make porphyria infamous . . ."

● Real-life VAMPIRE! Meet the woman who is allergic to the SUN by Charlotte McDonagh, DailyStar.co.uk. Published 16 Jan. 2015. "Lorraine Valentine ended up in hospital for six days after going on her first EVER beach holiday in June last year with her kids ... The mum, from Bournemouth, Dorset, suffers from the rare disease erythropoietic protoporphyria (EPP) which causes a severe burning sensation when she is exposed to sunlight or UV light."

● 17 What is porphyria, why is it called "The Vampire Disease"? "Porphyria is actually a group of diseases, all pertaining to the metabolism of porphyrin rings that, along with iron, are responsible for the oxygen-carrying properties of hemoglobin--the red ingredient in blood. Porphyria is a very rare genetic disorder and is not contagious."

● What Is Porphyria? from WiseGeek. "All types of porphyria are rare, and the condition is often misdiagnosed . . . Diagnosis is made through analysis of urine, blood, or stool samples, and tests . . . There is no cure for porphyria, but it can be managed through diet and drug therapy . . . Biochemist David Dolphin speculated in a 1985 speech that erythropoietic porphyria cases may have been the basis for vampire legends, due to the sufferers' sensitivity to light and strange appearance. He also suggested that people with porphyria may have craved and ingested blood in the belief that it would alleviate their symptoms and that they have an aversion to garlic, but neither of these speculations has ever been substantiated."

● Dracula between Hero and Vampire. This site is an encyclopedia dedicated to Count Dracula - the vampire and his historical inspiration - Vlad III Dracula (aka Vlad the Impaler), prince of Walachia. Definition of Vampires: Vampires are mythical or folkloric creatures, typically held to be the re-animated corpses of human beings and said to subsist on human and/or animal blood (hematophagy), often having unnatural powers, heightened bodily functions, and/or the ability to physically transform.

● Vampire and Dracula from Wikipedia.

Article on "Vampires/Dracula" from Castle of Spirits by Rowena Gilbert is no longer available. (Sad to inform you that Rowena Gilbert passed away in March 2008). Part of her writing on Vampires/Dracula is preserved here: "Another medical condition attributed to vampires publicly aired by Professor David Dolphin (Canadian biochemist) in 1982 is that they could be suffering from a congenital blood disorder known as iron-deficiency porphyria now dubbed 'Dracula Disease'. The metabolism of sufferers is very inefficient in combining iron with complex compounds called porphyrins to yield haem, an much needed component of the blood pigment haemoglobin. The disease results in their skin becoming increasingly impregnated with iron-free porphyrins, which are stimulated by daylight to incite a chain of reactions causing skin lesions and other disfigurements. To avoid this, sufferers tend to only come out at night - they also suffer from gum tightening which causes the teeth to protrude - giving them vampire-like appearance and habits. Even more fascinating is that garlic activates a killer enzyme which destroys that which is most valuable to them - the precious haem which their bodies is lacking - hence they are pretty much allergic to it!"

● Step 7 - Medical Information: The "Dracula Disease". "This rare disease known as the 'vampire' or 'Dracula' disease, or by its proper medical name, porphyria, is thought to be one of the reasons for the vampire scares throughout time in cultures around the world."

● Born to the Purple: the Story of Porphyria by Nick Lane, Scientific American. Published 16 Dec. 2002. "Porphyrins are light-activated chemicals that can be used to combat ills including tumors and diseases of the eye. But they have a dark side: when the wrong forms of them build up in the body, they cause a disease called porphyria ... Porphyria is named from the ancient Greek word porphura, meaning purple."

● Vampires: Fact, Fiction and Folklore. The Real History of Vampires by Benjamin Radford, LiveScience Contributor, 29 Oct. 2012. "Vampire Origins: The vampires most people are familiar with (such as Dracula) are revenants - human corpses that are said to return from the grave to harm the living; these vampires have Slavic origins only a few hundred years old. But other, older, versions of the vampire were not thought to be human at all but instead supernatural, possibly demonic, entities that did not take human form."

● Porphyria the Vampire Disease That Started the Legend by Melanie Gueco, Knoji - Consumer Knowledge. "The Vampire Disease, or porphyria in scientific term, is a set of genetic disorders characterized by the malfunction of the hemoglobin production. It is a rare disease that is said to originate from the intermarriages of the European nobility. The good news is, it is not contagious. Unfortunately, it is not curable.

While the term 'porphyria' is relatively new, the disease itself has been in existence since the beginning of time. It is referred to, before, as a liver or a blood disease due to its symptoms. It was later called the 'Vampire Disease' and was actually the start of the vampire legend."

● 16th century 'vampire' unearthed - complete with a rock in its mouth to stop blood sucking and a stake driven through its LEG by Jonathan O'Callaghan, from DailyMail.co.uk, 13 May 2014. "Archaeologists in northwestern Poland have a found a suspected vampire. The burial was found in a cemetery in the town of Kamien Pomorski. A stake had previously been driven through one leg of the skeleton. This was designed to stop it rising from the grave after its death. It also had a small rock in its mouth to stop it sucking blood from victims."

● Diseases and Conditions: Porphyria from Mayo Clinic. Definition, Symptoms, Causes, Complications, Preparing for your appointment with the doctor, Tests and diagnosis, Treatments and drugs, Lifestyle and home remedies, Prevention.

● Painful porphyrins by Julie L. McDowell, Diseases and Disorders. "I was only 17 years old when I suffered my first attack of porphyria. The onslaught of pain was rapid and vicious. When I was asked by the attending physician to describe the pain, I likened the agony to that caused by a thousand flaming swords embedded deeply in my abdomen."

"Porphyrins are complex molecules in the body that combine with iron to produce heme, which is responsible for giving blood its red color and combines with globin to form hemoglobin. Besides delivering oxygen through the body's circulatory system, heme is important in metabolism and human physiology.

Porphyria is a genetic disease that is caused by an enzyme deficiency in heme production. Heme is synthesized from smaller molecules through several enzyme-catalyzed steps in a biochemical pathway. An enzyme deficiency in any of these steps inhibits heme production, causing porphyrins to accumulate and clog the pathway. The high level of porphyrins is responsible for the physical symptoms, such as port-colored urine, sensitivity to sunlight, and the mental instability that sometimes accompanies this disease."

● Porphyria from British Liver Trust. What is Porphyria? What are the symptoms of porphyria? Diagnosis. Prevention. Treatment. Looking after yourself. Who else can help?

● Porphyria cutanea tarda - When skin meets liver from ScienceDirect, Volume 24, Issue 5, October 2010, Pages 735-745, by Professor Jorge Frank and Pamela Poblete-Gutiérrez, MD, PhD, Department of Dermatology, Euregional Porphyria Center Maastricht, GROW - School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands. Best Practice & Research Clinical Gastroenterology.

● Porphyria Overview by Brenda Chiang, DO, Claudia Mattos da Costa Dourado, MD, Chief Editor: Emmanuel C Besa, MD, Medscape, Aug. 31, 2020. Practice Essentials: Porphyria is the common term for a group of syndromes, largely hereditary, that result from defects in porphyrins (the enzymes involved in heme synthesis).

● Porphyrias Consortium. The Porphyrias Consortium includes six of the leading porphyria centers in the United States, as well as seven Satellite sites, that provide expertise and experience in the diagnosis and management of patients with all the porphyrias. The mission of the Porphyrias Consortium is to expand knowledge about the porphyrias and thereby benefit patients and their families.

● Porphyria - Greek for "Purple Urine" from Mall-net. "Diseases characterized by problems in the heme synthesis biochemical pathways. This is often the base cause of Multiple Chemical Sensitivities (MCS), light sensitivity, some forms of skin problems, and wine colored or purple urine; but is not the only condition that can cause these problems."

● Porphyria Awareness Week 2020 from American Porphyria Foundation (APF).

● Treatment Options from American Porphyria Foundation.

● Acute porphyrias - patients' stories. YouTube video, 4:25 min. Published 28 Jan. 2014. "Porphyrias and acute porphyrias can be typified by unexplained/acute abdominal pain, neurological or psychological manifestations and urine that turns red when exposed to light ... Urine darkening during acute attacks of porphyria is very likely but is not necessary."

● Genetic Disease, Porphyria (Also known as the Vampire Disease). YouTube video, 6:46 min. Uploaded 14 Apr. 2011.

● vampire disease. YouTube video, 3:44 min. Published 12 Dec. 2012 by TyannaLashae.

● Porphyria from WebMD. What Is Porphyria? Porphyria Causes, Symptoms of Porphyria, Porphyria Diagnosis, Porphyria Treatment, Doctors for Porphyria, Porphyria Complications, Porphyria Outlook, Getting Porphyria Support.

● Porphyria Facts from MedicineNet. (The following info is no longer available online as of 20 Sep 2017): Synonyms of Porphyria from ClinicalKey.com - Hematology:
● ALAD porphyria
● Delta-aminolevulinic aciduria
● Erythrohepatic protoporphyria
● Gunther disease
● Intermittent acute porphyria
● Porphyria variegata
● Protocoproporphyria
● Protoporphyria
● Pyrroloporphyria
● Royal malady
● South African porphyria
● Swedish porphyria
● Toxic porphyria
Plus: ● Twilight phenomenon.

● Porphyria from Genetics Home Reference, U.S. National Library of Medicine, National Institutes of Health. "Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin ... Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias."

● Guide to Porphyrias: A Historical and Clinical Perspective by Stacy E. Foran, MD, PhD, and György Ábel, MD, PhD. "Porphyrias often are misdiagnosed because patients have vague symptoms. However, acute forms of porphyria can be life-threatening, so it is important to make an accurate diagnosis and initiate proper medical management. We discuss the history, pathogenesis, clinical manifestations, diagnosis, and treatment of porphyrias and then briefly describe the 8 types of porphyrias and their distinguishing features."

"Porphyrins were named for the Greek root for "purple" (porphyra). The name porphyria commonly is credited to Schultz, who was a German medical student in 1874. B.J. Stokvis, MD, made the first clinical description of acute porphyria in 1889. In 1930, Hans Fischer, a Nobel laureate, described heme as the crypt that makes blood red and grass green. In 1937, Waldenström in Sweden published his findings on one specific type of porphyria, acute intermittent porphyria (AIP). By the 1960s, all known types of porphyria had been identified and environmental factors were shown to affect the disease course. Research in the 1980s and 1990s led to the identification of the molecular defects in each type of porphyria. Currently, scientists have focused on gene therapy as a treatment for porphyria."

● Porphyria from MedlinePlus.

● Porphyria from National Digestive Diseases Information Clearinghouse (NDDIC), a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH).
What are porphyrias?
What are the types of porphyria?
How common are porphyrias?
Who is more likely to get porphyria?
What are the complications of porphyrias?
What causes porphyrias?
How do doctors diagnose porphyrias?
How do doctors treat porphyrias?
How do doctors prevent and treat complications of porphyria?
How do porphyrias affect eating, diet, and nutrition?
Clinical Trials for Porphyria

● Porphyria from the Doctor's Doctor, a technical article intended for the medical profession.

● Porphyria from Better Health Channel, Australia. "Summary: Porphyria occurs when the body cannot convert naturally occurring compounds (called 'porphyrins') into heme (or haem), which contains iron. Porphyria can affect the skin, gastrointestinal system, nervous system or all of these. Diagnosis can be delayed because porphyria mimics other conditions such as Guillain-Barre syndrome, eczema, multiple sclerosis and irritable bowel syndrome." Symptoms, Porphyrins build up in the body, Inherited genes, A range of triggers (Common triggers include: Prescription drugs such as barbiturates, tranquillisers, sedatives, oral contraceptives and some types of antibiotics Female sex hormones, Sunlight, Alcohol, Cigarette smoking, Infection, Surgery, Fasting), Common complications, Diagnosis, Treatment - acute porphyria, Treatment - cutaneous porphyria, Self-care options, Where to get help, Things to remember: 1. Porphyria is the umbrella term for a group of rare disorders that involve a particular molecule called 'heme' or 'haem'. 2. Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type. 3. There is no cure, but medical treatment and lifestyle changes can usually manage the symptoms.

● What is Porphyria? | Summer Shade Ep. 1. YouTube video, 5:32 min. Published on Jun 28, 2016 by Porphyria J. Porphyria J is a vlog devoted to creating community & awareness around Porphyria.

● Porphyrias. YouTube video, 12:06 min. Published 1 Oct. 2011. Dr Tony Talebi discusses the Porphyrias chapter of "Hematology and Transfusion Medicine Board Review Made Simple."

● Genetic Disease, Porphyria (Also known as the Vampire Disease). YouTube video, 6:46 min. Published on April 14, 2011 by heartcandiee. "Know more about Porphyria, which is also known as the Vampire Disease."

● Exploration Health: Acute Intermittent Porphyria (AIP). YouTube video, 12:11 min. Published by PorphyriaFoundation, Nov 10, 2015. The newest media on Acute Porphyrias is a PBS documentary about AIP which features Dr. Lisa Kehrberg and porphyria experts Dr. Karl Anderson and Dr. Joseph Bloomer, among others.

● Exploration Health: Acute Intermittent Porphyria (AIP). YouTube video, 12:11 min. Published on Nov 10, 2015 by American Porphyria Foundation. "The newest media on Acute Porphyrias is a PBS documentary about AIP which features Dr. Lisa Kehrberg and porphyria experts Dr. Karl Anderson and Dr. Joseph Bloomer among others."

● "Porphyria The Movie" This is Real, We Are Not Vampires & Werewolves & We Are Rare. YouTube video, 25:33 min. Published on Jun 30, 2016 by Cheryl Hopewell. "All Credits to The American Porphyria Foundation and the Doctors, Researchers, Scientists, Labs, Hospitals, Educators, Volunteers, Patients ... "

● What is Porphyria?? (The Disease). YouTube video, 5:14 min. Uploaded 29 Dec. 2008. "The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway).Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. This is, however, not the main problem; most enzymes - even when less functional - have enough residual activity to assist in heme biosynthesis. The largest problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations."

● Porphyria Cutanea Tarda Treatment & Management by Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD, from eMedicine Medscape.

● Variegate Porphyria Treatment & Management by Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD, from eMedicine Medscape.

● 5 Real Signs That Vampires Actually Exist. YouTube video, 6:24 min. Uploaded Published on May 29, 2014 by Dark5. Note: This video is classified under the Category: Entertainment. "Are vampires real or just the product of strange history and twisted imaginations? From Twilight to the Vampire Diaries and Anne Rice to True Blood, vampires have inspired fiction for centuries. But is there truth behind these stories? Presenting 5 signs that Vampires are real, including vampire skeletons and graveyards, the real history behind Dracula, a murderous countess named Elizabeth Bathory, a strange disorder called Porphyria and a potential fountain of youth in the blood of others." Music: "Walk Machine" by AltoSync.
"Dark5 is a curated repository of knowledge featuring the darkest, strangest, weirdest, scariest and most amazing of science, science fiction, history, technology and horror. Within you'll encounter paranormal top 5 lists including the most mysterious photos that cannot be explained, mysterious creatures caught on tape, secret conspiracies, unexplained videos, aliens, UFOs and the creepiest monsters real and imagined."

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Porphyria: The Vampire Disease by Dr. Peter W. Kujtan - A Research Guide for Students

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Dr. Peter W. Kujtan describes the symptoms of porphyria that have unfairly branded many sufferers with the term

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FSMA Love, Hope & Strength Fundraiser 2014 Video

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spinal muscular atrophy (disease or medical condition)

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Brief talk about Spinal Muscular Atrophy.

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Spinal Muscular Atrophy (SMA) is the leading genetic cause of death in infants and toddlers and is associated with a high rate of childhood mortality in its most severe forms. In a collaboration between Roche Pharma Research and Early Development (pRED), PTC Pharmaceuticals and the SMA Foundation, orally available molecules were discovered that may specifically correct a certain genetic defect in this devastating disorder.

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Spinal muscular atrophy - causes, symptoms, diagnosis, treatment, pathology

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What is spinal muscular atrophy (SMA)? SMA's an autosomal recessive disorder that causes alpha motor neurons in the spinal cord to die, resulting in muscle weakness and atrophy. Subscribe - https://goo.gl/w5aaaV. More videos - https://goo.gl/UhOKiM. Support us on Patreon - https://goo.gl/ZGHEk4. This video is brought to you by Osmosis.

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Spinal muscular atrophy, or SMA, is an inherited condition that causes nerve cells in the lower part of the brain and spinal cord to break down and die. When this happens, the brain stops sending signals to the body's muscles.

Babies with SMA can have difficulty crawling, walking, or even breathing, and older kids can have trouble getting around and mastering simple tasks of everyday life, like combing their hair.

Much research has been done to identify the genes that cause SMA, but currently, there's still no cure for the disease. Despite the limitations SMA causes, many kids who have it learn to live as independently as possible with the help of physical and occupational therapy and by getting treatment for the disease's most troubling symptoms.

About SMA

Normally, healthy nerve cells in the brain called motor neurons send messages to the body's muscles to tell them when and how to move. But SMA damages these brain cells and prevents those important messages from reaching the muscles.

When the muscles don't get direction on how to move, they become inactive, get smaller, and begin to waste away (a condition known as atrophy).

There are four types of SMA, categorized by the disease's severity and the age at which symptoms begin:

1. Type I, sometimes called Werdnig-Hoffmann disease, begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. Some develop the disorder before birth. This is the most severe form of SMA.

2. Type II, also called chronic infantile SMA, begins to affect children between 6 and 18 months old. This form can be moderate to more severe.

3. Type III, also called Kugelberg-Welander disease or juvenile spinal muscular atrophy, begins to affect kids as early as 18 months of age or as late as adolescence. This is the mildest form of SMA in children.

4. Type IV is the adult form of the disorder. Most people affected by this type start having symptoms after age 35, and these symptoms slowly get worse over time. Because it develops slowly, many people with type IV SMA don't know that they have it until years after symptoms begin.

A Genetic Cause

SMA is usually inherited. This means that both parents must have an altered (mutated) or missing copy of the gene involved in the disorder for a child to develop it.

Most cases of SMA are caused by a deficiency of a special protein called SMN ("survival of motor neurons"). Motor neurons need this protein to function. The gene that carries this protein is called SMN1. When each parent passes onto their child a chromosome with a mutated or missing SMN1 gene, the protein is not produced and motor neurons die, leading to SMA.

If a child receives the mutated SMN1 gene from only one parent, the child will be an SMA carrier. That means the child probably won't show any signs of having SMA, but later, could pass it on to his or her own child. If two SMA carriers have a child, there is a 1 in 4 chance that their child will have SMA. Being an SMA carrier is relatively common: About 1 in every 40 people carries the gene.

Signs & Symptoms

How SMA affects a child depends on when the disorder first causes symptoms. Typically, the later that symptoms first appear, the less severe a child's disabilities will be. Depending on the severity of the condition, long-term effects can be debilitating and even life threatening.

Many babies born with SMA have a tongue that quivers (called fasciculations). This symptom is characteristic of SMA and can lead to an early diagnosis. However, not all babies develop it, and the problems they do develop also can be caused by other diseases. This can make it difficult to determine whether SMA is responsible.

When SMA develops early, it can cause children to miss certain developmental milestones, such as rolling over, sitting up without support, and walking. One symptom of SMA that might not be as obvious is the muscle thinning that occurs because they aren't being used (this is the atrophy part of the disorder).

The problems associated with SMA continue to get worse as a child gets older. Progressive weakness can cause a child to begin to fall more often than other kids or to have trouble lifting or carrying items that he or she could previously carry with ease.

When the back muscles that normally support the spine become weak, children with SMA develop spinal deformities, such as scoliosis (sideways curvature of the spine) and kyphosis (front-to-back curvature of the spine, commonly known as a humpback). Over time, SMA continues to cause the body to waste away, leaving some children completely unable to walk, stand, and even move.

SMA sometimes affects the muscles used for breathing. This complication, along with a lack of mobility, puts children with SMA at risk for developing severe respiratory infections. These can be hard to treat and can occur over and over again.

Not all parts of the body are affected by SMA, however. Even kids with severe forms of the disease still have sensations in their face, arms, and legs. Intelligence is unaffected, and many children with SMA tend to be unusually alert, interactive, and gifted when it comes to making friends and socializing.

Diagnosis

Doctors don't normally test babies for SMA. In fact, unless the parents know they are SMA carriers or a baby demonstrates significant muscle weakness or has difficulty breathing or feeding immediately after birth, SMA might not be detected right away.

Instead, a doctor might realize that a child has SMA only after the child misses certain developmental milestones, such as being able to support his or her head or stand without help. In many cases, progressive muscle weakness and atrophy, parental concerns, and repeated doctor visits because of respiratory problems prompt further investigation that reveals SMA as the cause of a child's difficulties.

A diagnosis usually comes only after the child undergoes several tests that rule out other diseases that cause similar symptoms. These tests usually include:

nerve conduction tests, such as an electromyogram (EMG)

computed tomography (CT) scan

magnetic resonance imaging (MRI)

muscle tissue biopsy

To confirm an SMA diagnosis, the doctor will usually recommend a blood test to look at the child's genes. If the SMN1 gene is missing or imperfect, it will confirm the diagnosis of SMA. The doctor might also recommend that parents and other members be screened for the disorder, even if they've never had any symptoms.

Treatment

Unfortunately, there is no cure for SMA. The treatment that children receive for SMA varies, depending on their age and the severity of symptoms. The goal of treatment is to relieve specific symptoms, maintain function and enhance a child's mobility for as long as possible, and maximize the child's independence and quality of life.

Children with SMA usually require ongoing care throughout their lives from many different types of doctors, including pulmonologists, neurologists, orthopedists and orthopedic surgeons, gastroenterologists, nutritionists, and physical and occupational therapists.

Counseling and support groups can help children, parents, and family members cope with the devastating aspects of SMA and the ongoing medical care required. In addition, parents may want to consider genetic counseling, especially if they plan to have more children.

Respiratory Support

Children with SMA commonly need help breathing when muscle weakness begins to affect the respiratory muscles. Different therapies can help a child breathe. Children who are less severely affected may just need to breathe through a mask or mouthpiece. Others may be connected to a breathing machine (called a negative-pressure ventilation system), which helps the lungs expand and contract. Air gets into the lungs through a tube placed into the windpipe (tracheostomy).

A critical factor in respiratory care is preventing infection, especially pneumonia. Pneumonia is common in children with SMA and is life threatening.

Nutritional Support

SMA can affect the muscles used for chewing, sucking, and swallowing. This can cause a child to become malnourished or develop pneumonia if the child inhales food or liquids while eating. Some children do better by eating small, frequent meals throughout the day instead of having three large meals.

Some children with SMA are at risk for obesity if they consume too many calories for their activity levels and they can't exercise to effectively burn the calories. Ongoing consultation with a nutritionist is necessary to ensure adequate nutrition that doesn't overload a child with unnecessary calories.

Children who can't swallow or suck must be fed in another way to ensure that they're receiving enough nutrition. Sometimes, they have a tube inserted into the stomach to help them eat. Through this tube, called a gastrostomy tube, they can receive a nutritionally sound liquid diet.

Function and Mobility

Many children with SMA benefit greatly from physical and occupational therapies, which help to maintain function and mobility and enhance quality of life for as long as possible.

During physical therapy, kids engage in exercises that help to protect the joints from stiffness and injury. Physical therapy also helps to keep the muscles strong, maintain flexibility, enhance the circulation of blood in the limbs, and relieve pain that's associated with muscle weakness and immobility. Exercises are also performed to strengthen the respiratory muscles that assist in breathing.

In occupational therapy, children do exercises that can help them perform typical daily activities, such as walking, dressing themselves, combing their hair, and brushing their teeth as independently as possible. In some cases, tools can help make these tasks easier, such as:

leg braces, standing frames, canes, and walkers, which provide stability and improve mobility

electric wheelchairs with customized controls

specialized seats to use in school

tools for using computers and phones and controlling other home electronics, such as the TVs and lights

tools to aid educational activities, such as writing and drawing

The goal of physical and occupational therapy is to help kids with SMA - and their parents - find ways to live as normally as possible despite the limitations caused by the disease.

Spinal Deformity

Children who develop spinal deformities need to wear a splint, brace, or corset to straighten their backs as toddlers or adolescents. Sometimes, surgery (called a spinal fusion) is done to correct the spinal deformity in children who are done growing and whose respiratory systems can tolerate sedation with anesthesia.

Outlook

Scientists who are researching SMA have made dramatic breakthroughs in the past few years, including identifying the genes and the protein associated with the disorder.

Research is now focused on finding drugs and other therapies that can help to keep motor neurons functioning as long as possible, enhance muscle tone and function, and even modify gene function. Many scientists are optimistic that ongoing research will lead to better treatment of SMA.

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kugelberg-welander disease or juvenile spinal muscular atrophy

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Spinal muscular atrophy, or SMA, is an inherited condition that causes nerve cells in the lower part of the brain and spinal cord to break down and die. When this happens, the brain stops sending signals to the body's muscles.

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The spinal muscular atrophies (SMAs) comprise a group of autosomal-recessive disorders characterized by progressive weakness of the lower motor neurons. In the early 1980s, Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that resulted in early death, though the age of death was variable.

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Spinal Muscular Atrophy

What is spinal muscular atrophy?

Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement.

Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don't receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they're not active.

SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.

In the most common form of SMA (chromosome 5 SMA, or SMN-related SMA), there is wide variability in age of onset, symptoms and rate of progression. In order to account for these differences, the chromosome 5 SMA often is classified into types 1 through 4.

The age at which SMA symptoms begin roughly correlates with the degree to which motor function is affected: The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1). SMA onset in children (types 2 and 3), teens or adults (type 4) generally correlates with increasingly higher levels of motor function.

For more, see Forms of SMA.

What causes SMA?

Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for "survival of motor neuron." This protein, as its name implies, seems to be necessary for normal motor neuron function. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1. Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes.

Other rare forms of SMA (non-chromosome 5) are caused by mutations in genes besides SMN.

For more information including detailed reading on rare, non-chromosome 5-linked SMA, see Forms of SMA and Causes/Inheritance.

What are the symptoms of SMA?

SMA symptoms cover a broad spectrum ranging from mild to severe.

The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop.

There's a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-related SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn is correlated with how many SMN2 genes a person has.

Sensory, mental and emotional functioning are entirely normal in chromosome-5 SMA.

Some forms of SMA are not linked to chromosome 5 or SMN deficiency. These forms vary greatly in severity and in the muscles most affected. While most forms, like the chromosome 5-related form, affect mostly the proximal muscles, other forms exist that affect mostly the distal muscles (those farther away from the body's center) - at least in the beginning.

For more, see Signs and Symptoms.

What is the progression of SMA?

In chromosome 5-related SMA, the later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. While in the past, infants with SMA typically did not survive more than two years, today most doctors now consider SMN-related SMA to be a continuum and prefer not to make rigid predictions about life expectancy or weakness based strictly on age of onset.

What is the status of research on SMA?

Research has focused on strategies to increase the body's production of SMN protein, lacking in the chromosome 5-related forms of the disease. Approaches in this and other forms of SMA include methods to help motor neurons survive in adverse circumstances.

For more, see Research, SMA: Full Speed Ahead and In Focus: Spinal Muscular Atrophy (SMA)

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Spinal Muscular Atrophy | Muscular Dystrophy Association

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Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease.

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If I told you there's a disease that about 12 million Americans currently carry the gene for and that this same disease affects more than 30,000 children and young adults in the U.S., you'd want to know about it, right? Of course you would, and that's why you need to know about cystic fibrosis.

Cystic fibrosis (CF) is an inherited disorder that disrupts normal functions of epithelial cells, the cells that line the passageways of many of our most important organs - including the lungs and respiratory system, liver, kidneys, skin, and reproductive system. People with CF have a certain defective gene that impairs epithelial cell functions causing them to experience a buildup of sticky mucus inside the body, often leading to lung damage and chronic coughs. This defect in turn affects how CF patients breath and filter air, digest food, and absorb nutrients in the digestive tract. ( 1)

Because epithelial cells have many important roles inside the lungs, sweat glands of the skin and the digestive system, CF symptoms can occur throughout the body and become severe. CF is a serious, lifelong disease that needs to be properly managed throughout a patient's lifetime.

According to the Cystic Fibrosis Foundation, currently CF is considered to be incurable, however certain dietary interventions, supplements, digestive enzymes and lifestyle habits can help manage symptoms. ( 2) Fortunately, over the past several decades cystic fibrosis treatment approaches have come a long way. Most people with cystic fibrosis now live into their 20s and 30s - and some even longer, into their 40s or 50s. Research shows early diagnoses of cystic fibrosis can help prevent complications and certain developmental problems, helping improve a patient's quality of life.

Natural Ways to Help Manage Cystic Fibrosis
1. Early Diagnoses and Care
CF is diagnosed most often in unborn babies, newborns or young children by performing genetic tests. Doctors can now test for CF during pregnancy, which is especially common in children who are at a high risk. In newborns or children, a "sweat test" is now the most common means of making a CF diagnosis, which is conducted by testing a sample of sweat from the skin for levels of chloride. Aside from a sweat test, chest X-rays, blood tests, nutritional status tests, bacterial tests and pulmonary function tests to measure breathing can also be performed. ( 3)

Early diagnoses of cystic fibrosis can help manage symptoms and complications before they worsen, such as dehydration and diarrhea, which can contribute to weight loss.Doctors can help clear the lungs of mucus, helping prevent infections, and get the patient started on a diet that will prevent nutrient deficiencies. Digestive enzymes and supplements can also help with healthy development and weight gain.
2. Dietary Intervention to Prevent Deficiencies
Young CF patients who begin a diet with high-nutrient foods, supplements and digestive enzymes are more likely to have stronger metabolisms, gain weight normally and avoid deadly infections. Diet plays an important role in cystic fibrosis management because lung infections and diseases progress more slowly among children who are growing well and getting enough vitamins, minerals, probiotics and antioxidants.

Many doctors/nutritionists working with CF patients recommend a high-fat, high-calorie diet to reduce the risk for malnutrition, although enzymes are often needed to boost absorption of fat and fat-soluble vitamins. Junk foods and processed foods might be high in calories and fat (especially trans fats or omega-6 fatty acids found in refined vegetable oils, such as safflower, sunflower, corn and sesame), but they're usually not helpful for lowering inflammation and preventing lung damage, therefore they're not recommended for people with CF.

Some of the beneficial nutrients people with cystic fibrosis are most likely to be low in include: ( 4)

vitamin K

vitamin A

vitamin E

some people with CF might also need to add more salt to their diets to prevent dehydration

Omega-3 fatty acids can be beneficial for lowering inflammation (found in wild-caught fish like Alaskan salmon, sardines and halibut)

pancreatic enzymes are also commonly given to help digest food and calories better

high-quality multivitamins and antioxidants can help prevent inflammation, susceptibility to infections and lung damage

probiotic supplements are also helpful for improving digestive functions

Eating anti-inflammatory fats, including monounsaturated fats like extra virgin olive oil, avocado and virgin coconut oil, is a good way to increase calorie intake. Nuts and seeds, such as almonds, chia seeds, flaxseeds, walnuts and hemp seeds, are also good choices for this purpose, as are naturally fattier meats like grass-red beef and lamb. Unrefined carbohydrates can help provide dense calories and energy, especially when combined with fat, but it's best to eat unprocessed, low glycemic kinds such as ancient grains, starchy veggies and fruit.
3. Help with Proper Lung Function & Breathing
Cystic fibrosis treatments today are generally aimed at improving quality of life, helping boost nutrient intake/absorption, and improving breathing and lung capabilities. The use of non-medication pulmonary therapy treatments to maintain lung function is very common and can be life-saving. Devices such as a bronchodilator can help relax the muscles in the airways of the lungs, help cough up mucus and prevent inflammation from worsening.

Using certain inhalants or bronchodilators can help restore breathing and keep infections away, as can use of devices called oscillatory positive expiratory pressure, which increase airflow to the lungs through use of vibrations that help break mucus. ( 5, 6) Research shows that approximately 50 percent of patients with CF have some degree of bronchial lability (asthma), which a bronchodilator can improve by increasing clearance of secretions from the chest. Bronchodilators are sometimes used in combination with other therapies, like physical therapy, or anti-mucus medications and salt solutions to expel phlegm and offer even more relief.
4. Physical Therapy and Exercise
Other natural approaches to helping CF patients breath more easily include breathing exercises, physical therapy and cupping therapy. These techniques require no medications or antibiotics and help dislodge mucus in the chest, airways and elsewhere, which limit breathing and decrease quality of life.

Throughout the years, there have been mixed opinions on whether or not physical therapy can be effective for lowering CF symptoms. One meta-analysis published in the American Journal of Respiratory and Critical Care Medicine looked at several different leading approaches of clearing bronchial secretions in the treatment of patients with cystic fibrosis. These approaches included positive expiratory pressure mask, forced expiratory technique, exercise, autogenic drainage, and "standard physical therapy" using vibrations, drainage and percussion. They found that physical therapy worked very well in the majority of patients, especially when used in combination with other approaches like gentle, appropriate exercise.

Over 65 relevant trials and eight review articles were included in the meta-analyses comparing the independent techniques, and it was found that standard physical therapy resulted in a significantly greater sputum expectoration than no treatment or other single treatment. Physical therapy in combination with exercise suited for the patient was associated with a statistically significant increase in quality of life and lower CF symptoms. ( 7)

Facts About Cystic Fibrosis

CF affects more than 30,000 children and young adults in the U.S. (8)

This disease is most common among Caucasians, while Asian Americans are the least likely to have CF. In the U.S. about one of every 3,600 Caucasian children is born with CF (compared to one of every 17,000 African Americans and only one of every 90,000 Asian Americans)

The defected gene responsible for causing CF is found on "chromosome number 7" of a person's DNA. It takes two copies of a CF gene (one inherited from each parent) for someone to develop CF. When two CF carriers have a child, there is a one in four chance that the child will have CF.

CF can also be carried in people who don't develop the disease if they inherit only one CF gene. The carrier parent can then pass on the disease to their child, and estimates show that about 12 million Americans are currently CF carriers.

85 percent of people with CF are diagnosed as infants. Today, earlier detection, including during pregnancy, is helping doctors manage the disease as early as possible.

How Cystic Fibrosis Develops

CF affects the how certain proteins work inside epithelial cells of the mucus glands. Most people think of epithelial cells in terms of the skin - since they do, in fact, help us sweat through so we can regulate our body temperatures. But these important cells also have the responsibility of controlling the way that chloride (part of natural salts) passes across cell membranes in other parts of the body too. Epithelial cells balance the ratio of salt to water, forming important fluids, digestive juices and mucus that help us break down food and prevent viruses or infections. ( 9)

With CF, thick mucus begins to accumulate and can start to block the airways in the lungs, contributing to reoccurring infections since germs are more likely to get trapped inside the body. In addition to this mucus damaging the lungs and lowering immunity, it's also capable of affecting the digestive system, especially the pancreas, kidneys, intestines and liver. Mucus can start to slow down production of important digestive enzymes and "juices" that are normally secreted by the pancreas, which leads to trouble properly absorbing nutrients inside the intestines and sometimes unhealthy weight loss.

Cystic Fibrosis Symptoms

People with cystic fibrosis suffer from symptoms including: ( 10)

nasal congestion, lung damage, chronic coughs and asthma-like symptoms; coughs that produce thick, heavy, discolored mucus

repeated sinus and lung infections (such as bronchitis and pneumonia, which is one of the leading causes of a shortened life span)

trouble breathing or wheezing, even when at rest

nutrient deficiencies, especially of fat-soluble vitamins (vitamins A, D, E, and K)

developmental problems in infants and children

unintentional, sometimes dangerous weight loss

diarrhea, dehydration and electrolyte imbalance

oily, bulky stools (caused by undigested fat and protein accumulating in stool)

digestive problems, such as intestinal gas, swollen belly, chronic diarrhea and abdominal pain

salty "frosting" on the skin (caused from epithelial cells not being able to balance salt and water)

chronic fatigue

long-term complications and illnesses that can develop from CF include: sinusitis, bronchiectasis, pancreatitis, intestinal blockages, nasal blockages, collapsed lungs (pneumothorax), rectal prolapse, gallstones, diabetes and low bone density

Since many cases of cystic fibrosis are diagnosed in infants or very young children, developmental problems and life-threatening infections are some of the biggest concerns. Many newborns born with CF don't gain weight as expected since mucus prevents pancreatic digestive juices from entering the intestines and breaking down fats and proteins properly. The lungs are especially susceptible to reoccurring infections, such as bronchitis or pneumonia, sometimes which babies or young children aren't capable of fighting off.

Causes of Cystic Fibrosis

Cystic fibrosis is an inherited disorder, caused by a faulty gene that directs how the body produces a type of protein known as cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is found in the body's epithelial cells, which are most abundant in the lungs, digestive tract, sweat glands and genitourinary system (the organ system of the reproductive organs and the urinary system).

CFTR proteins help epithelial cells regulate levels of chloride found in salt (sodium chloride), so when they aren't working normally, the consistency of mucus and other fluid levels becomes altered in a dangerous way. The delicate balance of salt and water that's needed to maintain a thin coating of mucus inside the organs is shifted, and as a result, a thicker-than-usual mucus forms that heavily coats the inside of the lungs and passageways.

Mucus inside the lungs has the important role of trapping and helping remove germs, such as bacteria, viruses and fungus. In people without cystic fibrosis, mucus is normally thin and fluid-like, which allows it to be easily cleared from the respiratory system, carrying with it germs and waste, which are then cleared out of the lungs. However, when someone has CF, "sticky" mucus stays lodged in the passageways of the lungs, unable to remove potentially dangerous germs.

CF causes the most damage to the lungs but also impairs normal digestion. In the pancreas and intestines, thick mucus can block the way that important enzymes work, changing how food is digested and nutrients absorbed. Many people with CF have a hard time eating and digesting food normally, especially children who are susceptible to slow development, nutrient deficiencies and low weight gain. Even if cystic fibrosis doesn't change someone's appetite and food intake, it can still block some nutrients from being absorbed.

Future Care for Cystic Fibrosis

Instead of simply treating the symptoms of CF, new approaches are looking to target the underlying genetic causes. ( 11) Several new treatments are being developed for CF that offer a lot of hope for the future.

One treatment that has already been used successfully in over 100 CF patients in the U.S. is an inhaled spray containing normal copies of the defective CF gene, which can correct the faulty copy in the lungs and improve how mucus is made. Another similar approach is protein repair therapy, which also corrects how the defective CFTR protein works and lowers accumulation of sticky mucus in the digestive tract and airways.

Cystic Fibrosis Takeaways

Cystic fibrosis affects more than 30,000 children and young adults in the U.S.

When two CF carriers have a child, there is a one in four chance that the child will have CF. CF can also be carried in people who don't develop the disease if they inherit only one CF gene. The carrier parent can then pass on the disease to their child, and estimates show that about 12 million Americans are currently CF carriers.

Most people with cystic fibrosis now live into their 20s and 30s - and some even longer, into their 40s or 50s. Research shows early diagnoses of cystic fibrosis can help prevent complications and certain developmental problems, helping improve a patient's quality of life.

The best ways to naturally manage cystic fibrosis include early diagnosis and care, dietary intervention to prevent deficiencies, help with proper lung function and breathing, and physical therapy and exercise.

From the sound of it, you might think leaky gut only affects the digestive system, but in reality it can affect more. Because Leaky Gut is so common, and such an enigma, I'm offering a free webinar on all things leaky gut. Click here to learn more about the webinar.

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If I told you there's a disease that about 12 million Americans currently carry the gene for and that this same disease affects more than 30,000 children and young adults in the U.S., you'd want to know about it, right? Of course you would, and that's why you need to know about cystic fibrosis.

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8 Eylül günü yani yarın, Dünya Sağlık Örgütü'nün kararıyla "Kistik Fibrozis Günü" olarak belirlendi. Bu kapsamda kistik fibrozis hastalığına dikkat çekmek ve farkındalık yaratmak için ülke genelinde hastalığın anlatılacağı pek çok etkinlik gerçekleştirilecek. Biz de "Sağlık Olsun" köşemizde bu hafta tüm bilinmeyenleriyle bu konuyu konuşacağız.
Doğuştan genetik-metabolik bir hastalık olan kistik fibrozis, Türkiye'de her 3-4 bin bebekten birinde görülmektedir. Çoğunlukla akciğer ve sindirim sistemini etkileyen bu hastalık, doğumdan itibaren bir çok organı etkileyerek işlev bozukluğuna yol açmakta ve akciğerler ile mide-bağırsak sistemini etkilemektedir.
İşte bu hafta, kalıtsal bir hastalık olan kistik fibrozis nedir, nedeni, belirtileri ve bulguları nelerdir, bu hastalık nasıl teşhis edilir, tedavisi var mıdır gibi tüm merak edilenleri Hacettepe Üniversitesi Tıp Fakültesi Çocuk Göğüs Hastalıkları uzmanı Prof. Dr. Ebru Güneş Yalçın'a sordum, o da cevapladı.
* Evet öncelikle hastalığın tanımıyla başlayalım, kistik fibrozis hastalığı nedir?
Kistik Fibrozis (KF) kalıtsal yani ailevi geçiş gösteren bir hastalıktır. Doğumdan itibaren pek çok organın salgı bezlerini etkileyerek fonksiyon bozukluklarına yol açar. Hastalıktan sıklıkla akciğerler, pankreas, karaciğer, bağırsaklar, sinüsler ve üreme organları etkilenir. Normalde, dış salgı bezlerinin salgısı sudan zengin ve akışkan kıvamdadır, bu özellik organ sistemlerinin normal çalışmasını sağlar. KF'li hastalarda gen mutasyonu nedeniyle salgılar susuzdur, koyulaşmış, kıvamı artmış ve akıcı özelliği kaybolmuştur. Bu anormal özellikteki salgılar akciğerde havayollarında birikerek mikropların yerleşmesine, tekrarlayan-ilerleyen akciğer enfeksiyonlarına ve ilerleyici akciğer hasarına neden olur. Karaciğer ve pankreasın salgıları da koyulaşmıştır, bu koyu salgılar organ kanallarını tıkayarak hasara neden olurken diğer taraftan da salgılar bağırsağa akamadığı için yenilen yiyecekler sindirilip vücuda yararlı hale getirilemez, sonuç olarak; bol-yağlı ve kötü kokulu ishal, karında gaz ve şişkinlik, kilo alamama, vitamin eksiklikleri, ve büyüme-gelişme geriliği ortaya çıkar. KF hastalığında ter bezleri de etkilenir, hastaların terleri daha tuzludur, özellikle sıcak havalarda terle tuz ve su kaybı artar, hastalarda susuzluk ve tuzsuzluk belirtileri (şok) görülebilir.
* Peki bu hastalığın nedeni nedir?
KF, bir gendeki bozukluk (mutasyon) sonucunda oluşur. Anne ve babanın her birinden çocuğa 2 ilgili gen aktarılır, bozuk geni taşıyan anne ve bozuk geni taşıyan babanın çocuğu her bir gebelikte yüzde 25 olasılıkla sağlıklıdır. %50 olasılıkla taşıyıcıdır, yani hastalık bulguları yoktur tamamen sağlıklıdırlar ancak bozuk geni çocuklarına aktarabilirler ve yüzde 25 olasılıkla hasta olur, yani 2 gen de bozuktur. Hastalık sıklığının 1/2500-3000 olduğu bilinmektedir.
TERDEKİ TUZA DİKKAT * Kistik fibrozis hastalığının belirti ve bulguları nelerdir?
Akciğerlerle ilgili belirtileri, balgamlı, sık ve uzun süreli öksürük, zatüre, bronşit, hırıltılı solunum gibi tekrar eden veya iyileşmeyen akciğer enfeksiyonları ve nefes darlığıdır. Sindirim sistemi ile ilgili belirtileri, yenidoğan bebeğin kakasını yapamaması, bağırsak tıkanıklığı, fazla miktarda, yağlı ve kötü kokulu ishal, karında şişlik, gaz ve ağrı, iştahın iyi olmasına rağmen kilo alamama, büyüme ve gelişimin geri kalması, bağırsağın uç kısmının makattan dışarıya çıkması, bağırsak tıkanıklığı tablosu gibi bulgulardır. Bunların dışında, terin fazla tuzlu olması, susuzluk ve tuzsuzluk hali, sık tekrar eden, düzelmeyen sinüzit, nazal polip, yani burun eti, parmaklarda çomaklaşma, karaciğer hastalığı-safra kesesi taşları, diyabet ve özellikle erkeklerde kısırlık hastalığın diğer belirti ve bulgularıdır.
* Bu hastalık nasıl teşhis edilir?
Bu bulgulara sahip olan hastalara doktoru tarafından istenen bazı özel testlerle KF tanısı konulur. Ancak benzer şikayetlerin başka hastalıklarda da olabileceği unutulmamalıdır. KF tanısı koymak için en sık kullanılan test "ter testi"dir.
* Kistik fibrozis hastalığının tedavisi var mıdır?
KF gen bozukluğu ile ilgili, kronik bir hastalık olup, kökten çözümü yani gen tedavisi ile ilgili tedavi araştırmaları devam etmektedir. Ancak tanının erken konulması çok önemlidir, tedavinin erken başlamasını sağlayarak organların hasarını azaltır ve geciktirir, destek tedavi ömür boyu devam etmelidir. Tedavi bir ekip işidir, ekipte çocuk göğüs hastalıkları, gastroenteroloji, endokrinoloji uzmanları, hemşire, fizyoterapist, diyetisyen ve çocuk ruh sağlığı uzmanı bulunmalıdır.
DERNEĞİN HEDEFİ HASTALIĞI TANITMAK Son olarak bildiğim kadarıyla bu hastalıkla ilgili bir derneğiniz var. "Çocuk Solunum Yolu Hastalıkları ve Kistik Fibrozis Derneği..." Bize bu derneğin amaçları ve faaliyetlerinden biraz bahseder misiniz? Ayrıca hastalar bu derneğe nasıl ulaşırlar?
Çocuk Solunum Yolu Hastalıkları ve Kistik Fibrozis Derneği, KF başta olmak üzere tüm çocukluk çağı akciğer hastalıklarının erken tanınması ve tedavisinin en iyi şekilde yapılması amacıyla 1995 yılında Hacettepe Üniversitesi Tıp Fakültesi Çocuk Göğüs Hastalıkları Bilim Dalı hekimlerince kurulmuştur. Derneğimizin KF hastalığı konusundaki ana hedefleri; hastalığın ülkemizde tanınabilirliğini artırmak, ülkemizdeki hastalar ile ilgili bir kayıt sistemi oluşturmak, kistik fibrozisle ilgilenen uluslar arası dernekler ile işbirliği yapmak, pratisyen, çocuk hastalıkları, erişkin göğüs hastalıkları ile ilgilenen hekimlere ve diğer sağlık personellerine KF hastalığı konusunda temel ve güncel eğitimin verilmesi, hastalığın tanı ve tedavisinin standardize edilmesi ve KF hastalığına sahip ailelerin ve hastaların eğitilmesidir. Derneğimiz bu amaçların her birine yönelik faaliyetlerini sürdürmektedir. Derneğimize çocuk göğüs hastalıkları alanında çalışan hekimler, çocuk hekimleri, KF'e ilgi duyan ve bu hastalığın ilgilendiren genetik, moleküler biyoloji, endokrinoloji, gastroenteroloji, beslenme ve diyetetik, fizyoterapi gibi diğer alanlarda çalışan hekimler ve sağlık personelleri ile aileler üye olabilmektedir. Derneğimizin web adresi: ( www.kistikfibrozis.com)
Ben 24 yaşındayım ve yeni evlendim. Kız kardeşimin çocuğunda kistik fibrozis hastalığı var ve yakınen çektiği sıkıntıları biliyorum. Sizden öğrenmek istediğim acaba ben ve eşim gebeliği düşünmeden önce bir test yaptırmalı mıyız, yoksa gebelik sırasında mı teşhis ettirmeliyiz beni aydınlatırsanız çok sevinirim?
Melike M.
Öncelikle geçmiş olsun,kızkardeşinizin çocuğunda hangi gen de mutasyon varsa siz ve eşiniz aynı gene baktırıp mutasyon olup olmadığını tesbit ettirmelisiniz.Eğer birinizde taşıyıcılık varsa çocuğunuz en fazla taşıyıcı olur ancak ikinizde de taşıyıcılık varsa gebeliğin 11 veya 16. Haftasında bebeğin plasentasından parça(CVS) veya amniosentez yaptırarak aynı gen mutasyonuna baktırmalısınız.Bu gen testleri bir çok genetik labaratuvarında yapılmaktadır.
SİZ SORUN, UZMANLAR YANITLASIN
Önümüzdeki hafta konumuz, çocuklarda ve gençlerde "Dikkat eksikliği hiperaktivite bozukluğu..."
Bireyin yaşı ve sosyo-kültürel özelliklerine uygun olmayan, günlük işlevleri olumsuz etkileyen dikkat ve konsantrasyon güçlükleri ile aşırı hareketlilik anlamına gelen "Dikkat eksikliği hiperaktivite bozukluğu" konusunu, konunun uzmanı Gazi Üniversitesi Tıp Fakültesi Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları Anabilim Dalı öğretim üyesi Prof. Dr. Elvan İşeri ile konuşacağız. Sizler de sorularınızı hafta boyunca jineklinik@senolkalyoncu.com adresinden bana ulaştırabilirsiniz.

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8 Eylül günü yani yarın, Dünya Sağlık Örgütü'nün kararıyla "Kistik Fibrozis Günü" olarak belirlendi. Bu kapsamda kistik fibrozis hastalığına dikkat çekmek ve farkındalık yaratmak için ülke genelinde hastalığın anlatılacağı pek çok etkinlik gerçekleştirilecek. Biz de "Sağlık Olsun" köşemizde bu hafta tüm bilinmeyenleriyle bu konuyu konuşacağız.Doğuştan genetik-metabolik bir hastalık olan kistik fibrozis, Türkiye'de her 3-4 bin bebekten birinde görülmektedir.

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SOURCES:

Cystic Fibrosis Foundation: "About Cystic Fibrosis," "CF Genetics: The Basics."

American Lung Foundation: "Learn about Cystic Fibrosis," "Cystic Fibrosis," "Fertility in Women with CF."

National Human Genome Research Institute: "Learning about Cystic Fibrosis."

Mayo Clinic: "Cystic Fibrosis."

YourGenome.org: "What is cystic fibrosis?"

National Center for Advancing Translational Sciences/Genetic and Rare Diseases Information Center: "Cystic fibrosis."

The Childhood Liver Disease Research Network: "Cystic Fibrosis Liver Disease."

Johns Hopkins Cystic Fibrosis Center: "Effects of CF: Pancreas/Gastrointestinal Tract: Intestinal Problems," "Effects of CF: Muscle/Bone," "Effects of CF: Reproduction," "Effects of CF: Bladder/Kidney."

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What Is Cystic Fibrosis? What Causes It?

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SOURCES: Cystic Fibrosis Foundation: "About Cystic Fibrosis," "CF Genetics: The Basics." American Lung Foundation: "Learn about Cystic Fibrosis," "Cystic Fibrosis," "Fertility in Women with CF." National Human Genome Research Institute: "Learning about Cystic Fibrosis." Mayo Clinic: "Cystic Fibrosis." YourGenome.org: "What is cystic fibrosis?" National Center for Advancing Translational Sciences/Genetic and Rare Diseases Information Center: "Cystic fibrosis."

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Animated video provide facts about cystic fibrosis. Created for San Diego Chapter of the Cystic Fibrosis Foundation's CureFinders in-school program.

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Cystic Fibrosis Daily Regime - 5 year old

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Uploaded by Melissa Bellamy on 2017-05-27.

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Cystic fibrosis  - causes, symptoms, diagnosis, treatment & pathology

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What is cystic fibrosis? Cystic fibrosis is an autosomal recessive disorder involving the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes complications in the lungs, pancreas, and other organs. Subscribe - https://goo.gl/w5aaaV. More videos - https://goo.gl/UhOKiM. Support us on Patreon - https://goo.gl/ZGHEk4. This video covers the pathophysiology, signs and symptoms, and treatment for cystic fibrosis.

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çocuk sağlığı ve hastalıkları - fenilketonüri (zeka testi)

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Çocuk Sağlığı ve Hastalıkları - Fenilketonüri (Zeka Testi)

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Fenilketonüri, gıdalarla alınan ve esansiyel bir aminoasit olan fenilalenini tirozine çeviren fenilalanin hidroksilaz aktivitesinin yokluğu veya çok az olması sonucunda ortaya çıkan kalıtsal bir metabolik hastalıktır. Türkiye'de görülme sı

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Metvak Metabolik Hastalıklı Çocuklar Vakfı

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Fenilketonüri (PKU) Nedir? Fenilketonüri kalıtsal metabolik bir hastalıktır. Bu hastalıkla doğan çocuklar, fenilalanin amino asidini başka bir amino asit olan tirozine dönüştüremezler. Bu dönüşümü sağlayacak olan fenilalanin hidroksilaz enzimi bu hastalarda eksiktir. Fenilalanin diğer amino asitler gibi proteinin yapıtaşlarından biridir. Fenilketonürili hastalarda besinlerle alınan ve tirozine dönüştürülemeyen fenilalanin, kanda ve diğer dokularda birikir.

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http://www.borhaber.net/ İl Halk Sağlığı Müdürü Dr. Bilgehan Öztürk ; Topuktan alınan bir damla kan hayat kurtarır" diyerek, anna ve babaları uyardı. Dr. Bilgehan Öztürk, "Fenilketonüri kalıtsal metabolik bir hastalıktır. Fenilalanin hidroksilaz enzim eksikliği nedeni ile meydana gelmektedir.Hastalıkta bir protein yapıtaşı olan fenilalanin metabolize edilemez, kanda birikir ve geriye dönüşümsüz beyin hasarı meydana gelir.

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Fenilketonüri (PKU) Nedir? Doğumsal metabolik hastalıklardan biridir, genetik (otozomal resesif) geçişli bir hastalıktır. Bu hastalıkla doğan çocuklar, karaciğerde bulunan fenilalanin hidroksilaz enzimi çalışmadığı ya da az çalıştığı için, yaşam boyu fenilalaninden kısıtlı bir diyet uygulamak zorundadırlar. Fenilalanin protein yapı taşıdır, vücuta sentezi yoktur, diyetteki protein kaynakları ile alınır. Diyetle alınan ve vücudun fenilalanin gereksinimi karşılandıktan sonar arda kalan kısmı feilalanin hidroksilaz enzimi tarafından diğer bir protein yapı taşı olan tirozine çevrilir.

Ancak enzim görevini yerine getirmediği için, alınan fenilalanin kande yükselir ve beyine ciddi derecede kalıcı hasar verir. Hastalıklı bireylerin ağır derecede zihinsel özürlü olmaması hastalığın erken dönemde tanımlanıp, yaşam boyu kan fenilalanin düzeyinin güvenli sınırın altında tutulması ile sağlanabilir. Bu da vakaların tamamına yakınından yaşam boyu uygulanan düşük proteini diyet ile sağlanmaktadır.

Fenilketonüri hastalığı doğru beslenme ile önlenebilir mi?

Fenilketonüri (PKU) Nasıl Teşhis edilir?

Hastalık her doğan bebeğe uygulanacak "Yenidoğan Tarama Testi" ile hastalığa ait beyin hasarı oluşmadan teşhis edilmelidir. Ülkemizde 1983-2007 yılları arasında Hacettepe Tıp Fakültesi tarafından başlatılan ve İstanbul Üniversitesi Tıp Fakültesi, Dokuz Eylül Üniversitesi Tıp Fakültesi ve Cumhuriyet Üniversitesi Tıp Fakültesi'nin katılması ile yürütülen tarama programı 2006 Aralık ayından itibaren Sağlık Bakanlığı tarafından üstlenilmiş ve ücretsiz olarak yapılmaktadır. Konjenital hipotiroidi ve biyotinidaz eksikliği hastalıklarının da arandığı bu tarama programında özel bir kağıda, bebek doğumdan sonra 24-48 saat anne sütü ile beslendikten sonra, birkaç damla kan alınmaktadır

Ülkemizdeki Fenilketonüri (PKU) Hastalığı Oranı Nedir

Dünyada kısaca PKU olarak bilinen Fenilketonüri ( Phenyl Keton U ria) çoğu ülkede var olan bir hastalıktır. Ancak hastalığın ülkemizdeki görülme sıklığı çok yüksektir. Her yıl 1 milyondan fazla bebeğin doğduğu ülkemizde doğan her 6 bin bebekten biri fenilketonüri ile doğmaktadır. Hastalığın ülkemizde yüksek sıklıkta izlenmesinin nedeni akraba evlilikleridir. Anne ve babanın taşıyıcı olması halinde bu çiftin her çocuğunda hasta olma riski %25, taşıyıcı olma ihtimali %50, tam sağlıklı olma olasılığı %25'dir. Akraba evlilikleri hasta bireylerin doğmasına yolaçtığı gibi toplumda taşıyıcılık sıklığını da arttırmaktadır.

Çocuklarda öğrenme ve konsantrasyon için doğru beslenme nasıl olmalı?

Yaşam Boyu Diyet Nasıl Olmalı ?

Her çocuk, kan fenilalanin seviyesine, yaşına ve kilosuna göre farklı bir diyet programı uygular. Hekim tarafından günlük alması gereken fenilalanin miktarı hesaplanır ve bu miktarlar doğrultusunda ölçülü olarak tüketeceği bitkisel proteinli gıdalar (sebze -meyve) diyetisyen tarafından belirlenir. Bu diyetin uygulanması ile fenilalanin düzeyi istenen sınırlarda tutulmakta, beyinde hasar oluşumu engellenmektedir.

Diyet yaşam boyu uygulanmalıdır. Diyet uygulayan bireyler aralıklarla fenilalanin kan seviyelerini takip etmek ve kontrole gitmek zorundadır. PKU'lu bireyin fenilalanin içeriği yüksek proteinli gıdaları tüketmemelidir.

Fenilketonüri (PKU) Hastaları için Yasak Gıdalar Nelerdir?

Et ve et ürünleri (tavuk, balık, hindi, kırmızı et, salam, sosis, sucuk, sakatat vb...)

Süt ve süt ürünleri (yoğurt, ayran, cacık, peynir)

Kuruyemişler (fındık, leblebi, fıstık, ceviz, badem vb.)

Kurubaklagiller (kuru fasulye, nohut, mercimek, bakla, soya çeşitleri, barbunya vb.)

Unlu mamüller (makarna çeşitleri, ekmek, poğaça, yumurta, simit, kraker, bisküvi)

Çocuklarda bağışıklık sistemini güçlendirmek için 4 altın kural

Fenilketonüri (PKU) Hastaları için Serbest Gıdalar Nelerdir?

Mısır nişastası, sade lokum, sade akide şekeri, çay, ıhlamur, adaçayı, sıvı yağ, çay şekeri, elma suyu, aspartam içermeyen içecekler (gazoz, kola, meyve suyu )

Fenilketonüri (PKU) Hastaları için Ölçülü Gıdalar Nelerdir?

Sebze, meyve, tereyağ, margarin, bal, zeytin, pekmez ve tüm düşük proteinli gıdalar.

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Fenilketonüri (PKU) nedir? Belirtileri nelerdir ve tedavisi var mıdır?

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Ancak enzim görevini yerine getirmediği için, alınan fenilalanin kande yükselir ve beyine ciddi derecede kalıcı hasar verir. Hastalıklı bireylerin ağır derecede zihinsel özürlü olmaması hastalığın erken dönemde tanımlanıp, yaşam boyu kan fenilalanin düzeyinin güvenli sınırın altında tutulması ile sağlanabilir. Bu da vakaların tamamına yakınından yaşam boyu uygulanan düşük proteini diyet ile sağlanmaktadır.

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Fenilketonüri, Fenilketonuria ya da PKU; otozomal çekinik kalıtım gösteren metabolik bir hastalıktır. Hasta kişiler fenilalanin amino asitini tirozin amino asitine çeviremezler. İki amino asit arasındaki tek fark tirozinde bulunan hidroksil grubudur (-OH). Fenilalanini tirozine çevirmek için gerekli olan reaksiyonu katalizleyen enzime fenilalanin hidroksilaz (PAH) enzimi adı verilir ve fenilketonüri hastalarında karaciğerde işlev gören bu enzim aktif değildir.

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