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Usher syndrome

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
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
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
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
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
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
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...
February 5, 2018: Journal of the Neurological Sciences
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
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
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
Ling Cheng, Hongsong Yu, Yan Jiang, Juan He, Sisi Pu, Xin Li, Li Zhang
Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. In view of the high phenotypic and genetic heterogeneity in USH, performing genetic screening with traditional methods is impractical. In the present study, we carried out targeted next-generation sequencing (NGS) to uncover the underlying gene in an USH family (2 USH patients and 15 unaffected relatives). One hundred and thirty-five genes associated with inherited retinal degeneration were selected for deep exome sequencing...
January 5, 2018: Oncotarget
Yelda Asad, Sajjad Ahmad, Thanyada Rungrotmongkol, Kara E Ranaghan, Syed Sikander Azam
The bacterium Providencia stuartii, is associated with urinary tract infections and is the most common cause of purple urine bag syndrome. The increasing multi-drug resistance pattern shown by the pathogen and lack of licensed vaccines make treatment of infections caused by P. stuartii challenging. As vaccinology data against the pathogen is scarce, an in silico proteome based Reverse Vaccinology (RV) protocol, in combination with subtractive proteomics is introduced in this work to screen potential vaccine candidates against P...
January 31, 2018: Journal of Molecular Graphics & Modelling
James E Andruchow, Peter A Kavsak, Andrew D McRae
This article synthesizes current best evidence for the evaluation of patients with suspected acute coronary syndrome (ACS) using high-sensitivity troponin assays, enabling physicians to effectively incorporate them into practice. Unlike conventional assays, high-sensitivity assays can precisely measure blood cardiac troponin concentrations in the vast majority of healthy individuals, facilitating the creation of rapid diagnostic algorithms. Very low troponin concentrations on presentation accurately rule out acute myocardial infarction (AMI) and enable the discharge of approximately 20% of patients after a single test, whereas an additional 30%-40% of patients can be safely discharged after short-interval serial sampling in as little as 1 or 2 hours...
February 2018: Canadian Journal of Cardiology
Alix Trouillet, Elisabeth Dubus, Julie Dégardin, Amrit Estivalet, Ivana Ivkovic, David Godefroy, Diego García-Ayuso, Manuel Simonutti, Iman Sahly, José A Sahel, Aziz El-Amraoui, Christine Petit, Serge Picaud
Usher syndrome type 1 (USH1) is a major cause of inherited deafness and blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is characterized by a secondary cone degeneration following the rod loss. The development of treatments to prevent retinal degeneration has been hampered by the lack of clear evidence for retinal degeneration in mutant mice deficient for the Ush1 genes, which instead faithfully mimic the hearing deficit. We show that, under normal housing conditions, Ush1g-/- and Ush1c-/- albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors...
January 31, 2018: Scientific Reports
Katelin A Schneider, Leena H Shewade, Nicolas Buisine, Laurent M Sachs, Daniel R Buchholz
Previous work identified a transcribed locus, Str. 34945, induced by the frog stress hormone corticosterone (CORT) in Xenopus tropicalis tails. Because thyroid hormone had no influence on its expression, Str. 34945 was dubbed the first "CORT-only" gene known from tadpoles. Here, we examine the genomic annotation for this transcript, hormone specificity, time course of induction, tissue distribution, and developmental expression profile. The location of Str. 34945 on the X. tropicalis genome lies between the genes ush1g (Usher syndrome 1G) and fads6 (fatty acid desaturase 6)...
January 12, 2018: General and Comparative Endocrinology
Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Damme, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben-Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon
PurposeWe aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome.MethodsWhole-exome and genome sequencing were performed in five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and sensorineural hearing loss. Functional analysis of the wild-type and mutant proteins was performed in human fibrosarcoma cells.ResultsWe identified a homozygous founder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG)...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ying Jia, Xiaoge Li, Dong Yang, Yi Xu, Ying Guo, Xin Li
The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c...
January 2018: International Journal of Pediatric Otorhinolaryngology
Daniz Kooshavar, Masoumeh Razipour, Morteza Movasat, Mohammad Keramatipour
BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. METHODS: Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands...
January 2018: International Journal of Pediatric Otorhinolaryngology
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity...
2017: SAGE Open Medical Case Reports
Liheng Shi, Janet Ya-An Chang, Fei Yu, Michael L Ko, Gladys Y-P Ko
L-type voltage-gated calcium channels (LTCCs) regulate tonic neurotransmitter release from sensory neurons including retinal photoreceptors. There are three types of LTCCs (Cav1.2, Cav1.3, and Cav1.4) expressed in the retina. While Cav1.2 is expressed in all retinal cells including the Müller glia and neurons, Cav1.3 and Cav1.4 are expressed in the retinal neurons with Cav1.4 exclusively expressed in the photoreceptor synaptic terminals. Mutations in the gene encoding Cav1.4 cause incomplete X-linked congenital stationary night blindness in humans...
2017: Frontiers in Molecular Neuroscience
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