Results 91 to 100 of about 74,884 (346)

Epidemiological and clinical aspects of ear nose and throat sensorineural emergencies in the Yaoundé reference hospital

The Pan African Medical Journal, 2016
INTRODUCTION: sensorineural emergencies (SNE) are rare clinical situations. Few patients consult early explaining subsequent difficulty in having accurate data and management.
Franéois Djomou, Yves Christian Andjock Nkouo, Eko David Mindja, Choffor Nchinda, Luc Meka, Emilia Mbamyah-Lyonga, Alexis Ndjolo   +6 more
doaj   +1 more source

Expansion of the Phenotype of You‐Hoover‐Fong Syndrome and Possible Increased Risk of Cancer

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT You‐Hoover‐Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have
Alessandro De Falco, Fabiola De Gregorio, Massimo Eraldo Abate, Chiara Paolella, Vincenzo Nigro, Iris Scala, Nicola Brunetti‐Pierri   +6 more
wiley   +1 more source

Assessment of Hearing Defect in Oral Submucous Fibrosis: A Cross-Sectional Study

Journal of Orofacial Sciences
Introduction: This study was designed to assess the hearing defect in oral submucous fibrosis and compare the hearing defect in different stages of oral submucous fibrosis (OSMF) and also the hearing defect in the control group.
Garikapati Anoop, Nunsavathu Purnachandra Rao Naik, Yalamanchili Samata, Saranu Sethu Manjusha, Chennupati Tejaswi   +4 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 2007
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Brain, C, Dillon, MJ, Richards, A   +3 more
core   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Defining attention from an auditory perspective

WIREs Cognitive Science, Volume 14, Issue 1, January/February 2023., 2023
In settings with multiple sources, attention acts to mediate what object (estimate of an external, physical source) gets processed in detail. Attention depends on bottom‐up salience of the competing sources, top‐down volitional focus of the observer, and object‐based perceptual organization of the sensory inputs both over time and across different ...
Abigail L. Noyce, Jasmine A. C. Kwasa, Barbara G. Shinn‐Cunningham   +2 more
wiley   +1 more source

The Treatment of Idiopathic Sudden Sensorineural Hearing Loss Using Phle-botomy: A Prospective, Randomized, Double-Blind Clinical Trial

Acta Medica Iranica, 2009
This randomized clinical trial aimed to assess the efficacy of phlebotomy on improvement of hearing loss. 71 patients with sudden sensorineural hearing loss were enrolled in this randomized clinical trial study. They were divided into two groups: group A
Fatholah Behnoud, Mohammad Taghi Goodarzi   +1 more
doaj  

Hearing loss in Takayasu's arteritis: a role for hyperbaric oxygen therapy? [PDF]

, 2017
In the scientific community, there is growing interest regarding associated symptoms in Takayasu’s arteritis (TA), an autoimmune condition that mainly affects the medium and large arteries.
de Vincentiis, Marco, Greco, Antonio, Ralli, Massimo   +2 more
core   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]

, 2015
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina, de Groot, John CMJ, Frijns, Johan HM, Huisman, Margriet A, Locher, Heiko, van Iperen, Liesbeth   +5 more
core   +2 more sources