Results 11 to 20 of about 462 (99)

Diagnosis and Management of Paradoxical Cerebrospinal Rhinnorhea in Mondini’s Dysplasia [PDF]

Indian Journal of Otolaryngology and Head and Neck Surgery
Lekhaa Mohanraj
exaly   +2 more sources

Advances in pig models of human diseases

Animal Models and Experimental Medicine, Volume 5, Issue 2, Page 141-152, April 2022., 2022
Animal models of human diseases play an important role in the research of medical field. In the current review, we attempt to summarize the advances of the pig models for human cardiovascular diseases, metabolic diseases, neurodegenerative diseases, and some other genetic diseases. We also discuss the areas that need to be improved.
Naipeng Hou, Xuguang Du, Sen Wu
wiley   +1 more source

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Laryngoscope Investigative Otolaryngology, Volume 7, Issue 2, Page 540-563, April 2022., 2022
Abstract Objective Establish anatomical considerations, audiological outcomes, and optimal management in patients with branchiootic/branchiootorenal syndrome (BO/BOR). Methods Databases reviewed: Medline, Pubmed, Embase, Web of Science, Cochrane Collection, and ClinicalTrials.gov.
Kirsty Biggs, Gemma Crundwell, Christopher Metcalfe, Jameel Muzaffar, Peter Monksfield, Manohar Bance   +5 more
wiley   +1 more source

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

Molecular Genetics &Genomic Medicine, Volume 10, Issue 2, February 2022., 2022
Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next‐generation sequencing help significantly alleviate social and economic problems. We elaborated a custom SureSelectQXT panel for Next Generation Sequencing of the coding sequences of 42 genes involved in isolated hearing impairment or along with defects
Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Mehdi Hasnaoui, Amal Souissi, Nabil Idriss, Hajer Aloulou, Imen Chabchoub, Bayen Maâlej, Dorra Driss, Saber Masmoudi   +10 more
wiley   +1 more source

[Retracted] A Retrospective Study of Recurrent Bacterial Meningitis in Children: Etiology, Clinical Course, and Treatment

Computational and Mathematical Methods in Medicine, Volume 2022, Issue 1, 2022., 2022
Objectives. Recurrent bacterial meningitis (RBM) is a rare but life‐threatening disease. This study aims to analyze the clinical features, potential causes, and therapeutic outcomes of RBM in children. Methods. This article retrospectively reviews the clinical characteristics, etiologies, and treatments in children with RBM hospitalized in Hebei ...
Xin Li, Hua-Zhang Liu, Ling-yu Pang, Xin Wen, Su-Zhen Sun, Osamah Ibrahim Khalaf   +5 more
wiley   +1 more source

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

Laryngoscope Investigative Otolaryngology, Volume 6, Issue 5, Page 1196-1207, October 2021., 2021
Abstract Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive medical evaluation to determine the underlying etiology and help guide treatment and counseling. In this article, we review the indications and rationale for medical evaluation of pediatric bilateral SNHL, including history and physical examination ...
Suat Kılıç, Malek H. Bouzaher, Michael S. Cohen, Judith E. C. Lieu, Margaret Kenna, Samantha Anne   +5 more
wiley   +1 more source

Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next‐generation sequencing

Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021
We successfully identified pathogenic and likely pathogenic variants in 3 Chinese families with two nonsyndromic deaf children in succession by targeted NGS. Families who have had a deaf child or families with a family history of deafness should do genetic counseling before giving birth again.
Caixia Xiao, Shuang Liu, Hongyue Wang, Yibing Ding, Yaqiu Chen, Haiyan Liu   +5 more
wiley   +1 more source

Recurrent Streptococcus pneumoniae meningitis and Mondini dysplasia: Association or causation?

Journal of Infection and Public Health, 2019
Mondini dysplasia is a developmental disorder of the inner ear structures and it is a rare cause of recurrent bacterial meningitis in children. A 10-year-old boy presented with acute febrile encephalopathy and right ear pain. In the past, he had suffered
Indar K. Sharawat, Ananthanarayanan Kasinathan, Guru P. Peruri, Arushi G. Saini, Naveen Sankhyan, Akshay K. Saxena, Paramjeet Singh   +6 more
doaj   +1 more source

An early diagnosis of Mondini-like dysplasia in the Emergency Department at the first episode of bacterial meningitis

Emergency Care Journal, 2019
Mondini-like dysplasia is a rare congenital inner ear malformation (IEM) and the most common anomaly associated with recurrent bacterial meningitis in children.
Jeong Ho Kang, Sung Wook Song, Sung Kgun Lee, Seo Young Ko, Ji Hwan Bu   +4 more
doaj   +1 more source

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Journal of Translational Medicine, 2011
Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu   +9 more
doaj   +1 more source