Results 41 to 50 of about 31,332 (279)

Audio-vestibular symptoms in systemic autoimmune diseases [PDF]

, 2018
Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss
Adelchi, Croce, D'AGUANNO, VITTORIO, DE VINCENTIIS, Marco, DE VIRGILIO, ARMANDO, DI STADIO, Arianna, GRECO, Antonio, LONGO, Lucia, RALLI, MASSIMO   +7 more
core   +1 more source

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

Genetics and Molecular Biology, 2003
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads.
Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +3 more
doaj   +1 more source

Perrault Syndrome – A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder.
Sampathkumar Geethalakshmi, Veerasigamani Narendrakumar   +1 more
doaj   +1 more source

RNA microarray analysis in prenatal mouse cochlea reveals novel IGF-I target genes: implication of MEF2 and FOXM1 transcription factors [PDF]

, 2010
Background: Insulin-like growth factor-I (IGF-I) provides pivotal cell survival and differentiation signals during inner ear development throughout evolution.
Hortensia Sanchez-Calderon, Isabel Varela-Nieto, Jose G. Pichel, Lourdes Rodriguez-de la Rosa, Marta Milo, Matthew Holley, Rafael Linden   +6 more
core   +7 more sources

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Indian Journal of Endocrinology and Metabolism, 2012
Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein.
Mohd Ashraf Ganie, Imran Ali, A G Ahangar, Mohd Maqbool Wani, Sanjeed Ahmed, Manzoor Ahmed Bhat, Sulaiman Seth, Syed Mudasir   +7 more
doaj   +1 more source

Sudden hearing loss as an early detector of multiple sclerosis: a systematic review [PDF]

, 2018
To evaluate whether Sudden Sensorineural Hearing Loss (S-SNHL) may be an early symptom of Multiple Sclerosis (MS). A systematic review was conducted using the following keywords: "Multiple sclerosis, hearing loss, sudden hearing loss, vertigo, tinnitus ...
Bernitsas, E, Di Stadio, A, Dipietro, L, Greco, A, Meneghello, F, Minni, A, Ralli, M, Stabile, M R   +7 more
core   +1 more source

Wolfram syndrome: A rare mimic of type 1 diabetes mellitus

CHRISMED Journal of Health and Research, 2016
Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM), optic atrophy, and deafness.
Manish Gutch, Krishna Kumar Sahani, Annesh Bhattacharjee, Sukriti Kumar, Shobhit Shakya   +4 more
doaj   +1 more source

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. [PDF]

PLoS ONE, 2012
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing.
Shin-ichi Usami, Shin-ya Nishio, Makoto Nagano, Satoko Abe, Toshikazu Yamaguchi, Deafness Gene Study Consortium   +5 more
doaj   +1 more source

Advances in Microfluidic Cochlea‐On‐A‐Chip

Advanced Science, EarlyView.
This review systematically examines diverse cell sources for inner ear organoids and outlines stepwise induction protocols. Furthermore, it discusses current applications and prospective developments of cochlea‐on‐a‐chip technologies in areas such as deafness modeling, mechanistic studies, and drug evaluation, with particular focus on gene‐therapy drug
Tian Shen, Shanying Han, Weiwei He, Wen Yang, Xinghua Tang, Xiaolong Zhao, Xinghong Liu, Zhenhua Shao, Lin Cheng, Yu Zhao, Jiangang Fan   +10 more
wiley   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source