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Usher syndrome

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https://www.readbyqxmd.com/read/29781873/case-report-use-of-sports-and-performance-vision-training-to-benefit-a-low-vision-patient-s-function
#1
Daniel M Laby
SIGNIFICANCE: Despite our inability to attenuate the course of many ocular diseases that can ultimately lead to loss or significantly decreased visual function, this report describes a potential technique to aid such patients in maximizing the use of the vision that remains. PURPOSE: The aim of this study was to demonstrate the applicability of utilizing sports vision training to improve objective and subjective visuomotor function in a low-vision patient. CASE REPORT: A 37-year-old woman with Usher syndrome presented with reduced central visual acuity and visual field...
May 17, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#2
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#3
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29769102/securitizing-hiv-aids-a-game-changer-in-state-societal-relations-in-china
#4
Catherine Yuk-Ping Lo
BACKGROUND: China has experienced unprecedented economic growth since the 1980s. Despite this impressive economic development, this growth exists side by side with the human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) and severe acute respiratory syndrome (SARS) crises and the persisting deficiencies in public health provision in China. Acknowledging the prevailing health problems, the Chinese government has encouraged the development of health non-governmental organizations (NGOs) to respond to the health challenges and address the gaps in public health provision of the government...
May 16, 2018: Globalization and Health
https://www.readbyqxmd.com/read/29718797/cep250-mutations-associated-with-mild-cone-rod-dystrophy-and-sensorineural-hearing-loss-in-a-japanese-family
#5
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29655801/analysis-of-intragenic-ush2a-copy-number-variation-unveils-broad-spectrum-of-unique-and-recurrent-variants
#6
Christina A Austin-Tse, Diana L Mandelker, Andrea M Oza, Heather Mason-Suares, Heidi L Rehm, Sami S Amr
Given that all forms of Usher syndrome (USH) present with hearing loss in advance of retinal disease, the syndromic nature of the disorder is rarely appreciated when critical management decisions are being made. As a result, molecular diagnostics are crucial in guiding the management of USH patients. While 11 genes have been associated with USH, the USH2A gene is one of the largest contributors. Approximately 20% of suspected USH probands that undergo USH2A sequencing at our laboratory receive an inconclusive result due to the identification of a monoallelic disease-causing variant in USH2A...
April 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29625443/comprehensive-molecular-screening-in-chinese-usher-syndrome-patients
#7
Tengyang Sun, Ke Xu, Yanfan Ren, Yue Xie, Xiaohui Zhang, Lu Tian, Yang Li
Purpose: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. Methods: A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29605349/utility-of-whole-exome-sequencing-in-the-diagnosis-of-usher-syndrome-report-of-novel-compound-heterozygous-myo7a-mutations
#8
Khushnooda Ramzan, Mohammed Al-Owain, Rozeena Huma, Selwa A F Al-Hazzaa, Sarah Al-Ageel, Faiqa Imtiaz, Moeenaldeen Al-Sayed
Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to a genetic diagnosis. Usher syndrome is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without vestibular dysfunction and retinitis pigmentosa...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29572253/inframe-deletion-of-human-espn-is-associated-with-deafness-vestibulopathy-and-vision-impairment
#9
Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin
BACKGROUND: Usher syndrome (USH) is a neurosensory disorder characterised by deafness, variable vestibular areflexia and vision loss. The aim of the study was to identify the genetic defect in a Pakistani family (PKDF1051) segregating USH. METHODS: Genome-wide linkage analysis was performed by using an Illumina linkage array followed by Sanger and exome sequencing. Heterologous cells and mouse organ of Corti explant-based transfection assays were used for functional evaluations...
March 23, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29551606/sd-oct-imaging-as-a-valuable-tool-to-support-molecular-genetic-diagnostics-of-usher-syndrome-type-1
#10
Radka Kremlikova Pourova, Jana Paderova, Jana Copikova, Bohdan Kousal, Lubica Dudakova, Petra Liskova
A girl with profound congenital deafness and balance problems was found at 3.5 years of age to be a carrier of two novel compound heterozygous mutations in MYO7A that were predicted to be disease-causing. She also carried one known pathogenic mutation and one rare variant in USH2A. Fundus examination performed at 4.75 years revealed one small peripheral pigment deposit in the right eye, indicating probable retinal degeneration. Spectral domain optical coherence tomography (SD-OCT) showed a loss of photoreceptors throughout the macular area, except for the foveolar region, clearly confirming a diagnosis of Usher syndrome type 1...
March 15, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29534264/-the-usher-syndrome-a-human-ciliopathy
#11
Uwe Wolfrum, Kerstin Nagel-Wolfrum
The human Usher syndrome (USH) is a complex, rare disease manifesting in its most common form of inherited deaf-blindness. Due to the heterogeneous manifestation of the clinical symptoms, three clinical types (USH1-3) are distinguished according to the severity of the disease pattern. For a correct diagnosis, in addition to the auditory tests in early newborn screening, ophthalmological examinations and molecular genetic analysis are important. Ten known USH genes encode proteins, which are from heterogeneous protein families, interact in functional protein networks...
March 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29534263/-ciliopathies
#12
Christina Gerth-Kahlert, Samuel Koller
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome...
March 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29496713/cardiac-channelopathies-recognition-treatment-management
#13
Kathleen T Hickey, Amir Elzomor
The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death. Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families...
2018: AACN Advanced Critical Care
https://www.readbyqxmd.com/read/29490346/the-genetics-of-usher-syndrome-in-the-israeli-and-palestinian-populations
#14
Ayat Khalaileh, Alaa Abu-Diab, Tamar Ben-Yosef, Annick Raas-Rothschild, Israela Lerer, Yahya Alswaiti, Itay Chowers, Eyal Banin, Dror Sharon, Samer Khateb
Purpose: Usher syndrome (USH) is the most common cause for deaf-blindness. It is genetically and clinically heterogeneous and prevalent in populations with high consanguinity rate. We aim to characterize the set of genes and mutations that cause USH in the Israeli and Palestinian populations. Methods: Seventy-four families with USH were recruited (23 with USH type 1 [USH1], 33 with USH2, seven with USH3, four with atypical USH, and seven families with an undetermined USH type)...
February 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29478614/brain-cancer-genomics-and-epigenomics
#15
Tenley C Archer, Soma Sengupta, Scott L Pomeroy
Classically, brain cancers have been graded and diagnosed based on histology and risk stratified by clinical criteria. Recent advances in genomics and epigenomics have ushered in an era of defining cancers based on molecular criteria. These advances have increased our precision of identifying oncogenic driving events and, most importantly, increased our precision at predicting clinical outcome. For the first time in its history, the 2016 revision of the WHO Classification of Tumors of the Central Nervous System included molecular features as tumor classification criteria...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29469763/unusually-extensive-scalp-ulcerations-manifested-in-pemphigus-erythematosus
#16
Neha Chandan, Eden P Lake, Lawrence S Chan
Senear-Usher Syndrome, or pemphigus erythematosus, is an autoimmune skin blistering disorder with an overlapping clinical presentation of pemphigus foliaceus and lupus erythematosus. Lesions typically involve the scalp, face, and upper chest or back. This case study focuses on a patient who presentedwith progressive scalp ulcers, hyperpigmentation, and eroded plaques with overlying hemorrhagic crust. Pemphigus erythematosus was diagnosedwith direct immunofluorescence, demonstrating immunoglobulin G and complement deposition both intercellularly and at the dermoepidermal junction...
January 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29449008/tardive-dyskinesia-out-of-the-shadows
#17
REVIEW
Robert A Hauser, Daniel Truong
The approvals of the first two medications, valbenazine and deutetrabenazine, to treat tardive dyskinesia have ushered in a new era in neuropsychiatric care. Tardive syndromes are defined as delayed onset, persistent movement disorders or sensory phenomena that occur in association with exposure to dopamine receptor blocking agents (DRBAs). Their underlying pathophysiology remains to be fully elucidated, but clinicians can conceptualize tardive syndromes as persistent dopamine supersensitivity states. Tardive syndromes can potentially cause distress, disfigurement, embarrassment, and dysfunction, and are often permanent...
June 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#18
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29430167/the-genetic-dissection-of-myo7a-gene-expression-in-the-retinas-of-bxd-mice
#19
Ye Lu, Diana Zhou, Rebecca King, Shuang Zhu, Claire L Simpson, Byron C Jones, Wenbo Zhang, Eldon E Geisert, Lu Lu
Purpose: Usher syndrome (US) is characterized by a loss of vision due to retinitis pigmentosa (RP) and deafness. US has three clinical subtypes, but even within each subtype, the severity varies. Myosin VIIA, coded by Myo7a , has been identified as one of the causal genes of US. This study aims to identify pathways and other genes through which Myo7a interacts to affect the presentation of US symptoms. Methods: In this study, we used the retinal tissue of BXD recombinant inbred (RI) mice to examine the expression of Myo7a and perform genetic mapping...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29421825/insulin-leptin-axis-cardiometabolic-risk-and-oxidative-stress-in-elderly-with-metabolic-syndrome
#20
Daniela Gradinaru, Husseina Khaddour, Denisa Margina, Anca Ungurianu, Claudia Borsa, Cristina Ionescu, Gabriel-Ioan Prada, Joshua Usher, Yahya Elshimali
Insulin and leptin have an overlapping anorexigenic action as well as opposite effects on glucose and lipid metabolism. The study focuses on the biochemical and clinical relevance of new indices of insulin-leptin axis utilized in the study of the relationships between leptinemia, insulin sensitivity and oxidative stress, in elderly subjects with metabolic syndrome. We conducted clinical studies on elderly people with metabolic syndrome versus control subjects by creating new insulin-adipogenic indices, namely Insulin-to-Leptin Ratio (ILR) and Insulin-Adipogenic Resistance index (IAR-index)...
February 8, 2018: Experimental and Clinical Endocrinology & Diabetes
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