Results 121 to 130 of about 74,421 (224)

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core  

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, EarlyView.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Hearing loss in Adult Women with Turner Syndrome [PDF]

, 2013
L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner.
Andreu Castelo-Branco, Camil, Salas Puig, Francisco Javier, Santamaria Cano, Joan, Tercero Uribe, Ana Isabel, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina   +5 more
core  

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Cochlear Implantation after Kidney Transplantation

International Journal of Organ Transplantation Medicine, 2012
Patients with chronic renal failure may develop sensorineural hearing loss. Cochlear implantation has rarely done after organ transplantation. Herein, we report on a 33-year-old kidney transplantation recipient who underwent cochlear implantation for her
B Hasehmi, H Bahrani Fard, Z Zandifra
doaj  

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Clinical Genetics, EarlyView.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann   +4 more
wiley   +1 more source

Barakat syndrome presenting as isolated sensorineural hearing loss

Otolaryngology Case Reports
Barakat syndrome is a rare autosomal dominant disease caused by haplo-insufficiency of transcription factor GATA3 on chromosome 10p14. It is characterized by a triad of hypoparathyroidism, sensorineural hearing loss, and renal disease with high ...
Angela S. Zhu, Danielle Reny Larrow, Michael S. Cohen   +2 more
doaj   +1 more source

A Cross‐Sectional Study Exploring Patient Experiences, Unmet Needs and Desired Support in Those With Olfactory Dysfunction

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Smell and taste disorders (SATDs) are frequently overlooked despite growing prevalence. They profoundly impact quality of life. Effective therapies for SATDs remain scarce. This survey aimed to assess patient views surrounding the support available at the time of onset of SATDs, and what further support is needed.
William Ansley, Gabija Klyvyte, Mehmet Ergisi, Natalia Glibbery, Lois Camp, Prajakta Choudari, Mohammed Jawad, Tharsika Myuran, Nikki Garner, Jane Vennik, Lorenzo Stafford, Felix Naughton, Duncan Boak, Carl Philpott   +13 more
wiley   +1 more source

Assessment of the incidence of sensorineural hearing loss among infants admitted to neonatal intensive care unit in health centers of Golestan University of Medical Sciences, Iran [PDF]

, 2014
Materials and methods: In this prospective cohort study, 870 neonates were recruited by nonrandom sampling method. After filling in the demographic and clinical check lists, automated auditory brainstem response (AABR) was performed for neonates at the ...
Alaee, E., Fouladinejad, M., Sirati, M.
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Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source