https://padlet.com/madai_bernal123/eebn6s8760kw en-us 2016-02-10 01:17:53 UTC 2016-02-21 23:57:50 UTC hello@padlet.com https://padlet-assets.storage.googleapis.com/portrait/baby.jpg madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94231295 USH is an Autosomal trait meaning that it is not located on the sex chromosome. 
It is also Recessive; both parents have to be carriers in order for the child to be born with the syndrome.         ]]> 2016-02-10 03:19:44 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94231295 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94231334 2016-02-10 03:20:24 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94231334 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94231433 The child is profoundly deaf at birth. Hearing aids don't help.
 
The child suffers from severe vestibular problems and can't walk alone until he/she is at 18 months old.

The child starts to experience vision loss. It will begin around the age of ten as he/she loses her/his night vision. As time passes, it will rapidly progress into blindness.                 
 
 ]]> 2016-02-10 03:21:36 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94231433 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94232141 The child experiences hearing loss from birth. Hearing aids can help.

The child has a normal vestibular.

The child goes through vision loss that moves faster then the child from type 1.     ]]> 2016-02-10 03:30:15 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94232141 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94232430 The child will experience hearing loss over time. He/She will have to starts using Hearing aids in their mid/late adulthood. The Rate of the hearing loss varies on the person, even if there from the same family.

The child has normal/ near normal vestibular but problems may develop over time.     

The child will have vision loss. One he/she hit puberty they will loose there night vision. In his/her adulthood they will be legally blind.  ]]> 2016-02-10 03:35:23 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94232430 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94233258 National Institute on Deafness and other communication Disorders. U.S Department of Health and Human Service,2014. Web. 13 Feb. 2016.

Shu, Hai-Rong, Bi, Huai, Pan, Yang-Chun, Xu, Hang-Yu, Song, Jian-Xin, Hu, Jie, Ebscohost.  Creative Commons Attribution License, 2015. Web. 14 Feb.2016                           
HearSeeHope. Web. 15 Feb.  2016.

H, Jiang, C, Ge, Y, Wang, G, Tang, Q, Quan, National Center for Biotechnology  Information. U.S National Library of Medicine National Institutes of Health, 2015. Web. 15 Feb. 2016. 

]]> 2016-02-10 03:45:28 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94233258 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94501949 Blindness and deafness. (In some types it also causes vestibular problems)   
Deafness is caused by impairment of inner ear structure such as improper organization in the hair bundle that  transmits sound and motion signals. 
Blindness is caused by degeneration of photoreceptors in the retina. ]]> 2016-02-11 02:40:58 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94501949 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94588715 Not much was know on Usher, other than three additional loci and  the 12 responsible genes;   
CDH23, CEP250, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A.   ]]> 2016-02-11 14:02:41 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94588715 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94594746 Since USH is categorized in three different groups, a proper Clinical Diagnosis is almost impossible.
The "next-generation sequencing" has recently ben used to help  by detecting  genes that cause USH. 
The molecular diagnosis is still unknown. ]]> 2016-02-11 14:20:58 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/94594746 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95346579 2016-02-16 17:12:49 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95346579 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95454707 USH is passed down from generation to generation, but it may not always be shown as a phenotype since it is recessive. It can only be shown as  phenotype if both of the parents are carriers. (25% chance) ]]> 2016-02-17 02:11:48 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95454707 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95455370 USH has no effect on the persons life expectancy.]]> 2016-02-17 02:19:34 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95455370 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95988508 2016-02-18 21:58:34 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/95988508 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/96307967 In a recent study, doctors have discovered two new mutations that cause Usher. In this study, two Chinese families that contained two affected and two unaffected individual were used along with 100 unrelated individuals as the control group. The doctors amplified there entire coding sequence and splicing sites of the USH2A gene. They found that the once affected with Usher had two mutations; c.8272G>T and c.12376-12378ACT>TAA

Is these results are accurate, they are now one step closer to finding the molecular diagnosis.                                 ]]> 2016-02-21 23:33:32 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/96307967 madai_bernal123 https://padlet.com/madai_bernal123/eebn6s8760kw/wish/96308901 A cure is yet to be found but due to recent discoveries, it is believed that its now closer than ever.   ]]> 2016-02-21 23:49:43 UTC https://padlet.com/madai_bernal123/eebn6s8760kw/wish/96308901