Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population by Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren

“…It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA), and deafness. The natural history of WS is variable, even within the same family and with the same variant.ObjectiveTo report the phenotypes of five patients of Druze origin, all carrying the same autosomal recessive pathogenic variant in the WFS1 gene.Patients & methodsFive patients belonging to three core families were enrolled. …”
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De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome by Zhixin Jiang, Yinan Zhang, Jingbin Yan, Fengwen Li, Xinqian Geng, Huijuan Lu, Xiaoer Wei, Yanmei Feng, Congrong Wang, Weiping Jia

“…The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. …”
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A Neurophysiological Study of Musical Pitch Identification in Mandarin-Speaking Cochlear Implant Users by Jieqing Cai, Yimeng Liu, Minyun Yao, Muqing Xu, Hongzheng Zhang

“…Music perception in cochlear implant (CI) users is far from satisfactory, not only because of the technological limitations of current CI devices but also due to the neurophysiological alterations that generally accompany deafness. Early behavioral studies revealed that similar mechanisms underlie musical and lexical pitch perception in CI-based electric hearing. …”
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Impaired network organization in mild age‐related hearing loss by Zhaopeng Tong, Chunhua Xing, Xiaomin Xu, Jin‐Jing Xu, Yuanqing Wu, Richard Salvi, Xindao Yin, Fei Zhao, Yu‐Chen Chen, Yuexin Cai

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Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome by Linjun Chen, Lin Wang, Lei Chen, Fangyuan Wang, Fei Ji, Wei Sun, Hui Zhao, Weiju Han, Shiming Yang

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Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the l... by Cinzia Marchica, Faisal Zawawi, Dania Basodan, Rosie Scuccimarri, Sam J. Daniel

“…Abstract Background Muckle-Wells syndrome (MWS) is a rare auto-inflammatory disease characterized by the presence of recurrent urticaria, deafness and amyloidosis. Progressive sensorineural hearing loss (SNHL) is reported to occur in up to 85% of patients occurring in the second and third decades and as early as the first decade in patients with a more severe phenotype, thus potentially having a significant impact on a child’s development. …”
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Dissociation between Cerebellar and Cerebral Neural Activities in Humans with Long-Term Bilateral Sensorineural Hearing Loss by Xiao-Min Xu, Yun Jiao, Tian-Yu Tang, Jian Zhang, Chun-Qiang Lu, Ying Luan, Richard Salvi, Gao-Jun Teng

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Involvement of Cholesterol Metabolic Pathways in Recovery from Noise-Induced Hearing Loss by Na Sai, Xi Shi, Yan Zhang, Qing-qing Jiang, Fei Ji, Shuo-long Yuan, Wei Sun, Wei-Wei Guo, Shi-Ming Yang, Wei-Ju Han

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Serum NFL and neuropsychological performance over ∼8 years in women with and without HIV: a longitudinal repeated measures studyResearch in context by Deborah R. Gustafson, Xuantao Li, Alison E. Baird, Henrik Zetterberg, Kaj Blennow, Jinbing Zhang, Amanda Blair Spence, Pauline Maki, Anjali Sharma, Kathleen Weber, Recai Yucel

“…The MWCCS is funded primarily by the National Heart, Lung, and Blood Institute (NHLBI), with additional co-funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute on Aging (NIA), National Institute of Dental and Craniofacial Research (NIDCR), National Institute of Allergy and Infectious Diseases (NIAID), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Mental Health (NIMH), National Institute on Drug Abuse (NIDA), National Institute of Nursing Research (NINR), National Cancer Institute (NCI), National Institute on Alcohol Abuse and Alcoholism (NIAAA), National Institute on Deafness and Other Communication Disorders (NIDCD), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute on Minority Health and Health Disparities (NIMHD), and in coordination and alignment with the research priorities of the National Institutes of Health, Office of AIDS Research (OAR). …”
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