Results 121 to 130 of about 47,990 (266)

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Psychiatric and Neurodevelopmental Outcomes in Swedish Children With Hearing Loss due to Congenital Cytomegalovirus Infection: A Cross‐Sectional Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To investigate parent‐reported psychiatric, neurodevelopmental and adaptive functioning outcomes in children with congenital cytomegalovirus (cCMV)‐related sensorineural hearing loss. Methods Parents of children aged 5–12 years were recruited nationwide in Sweden into three groups: children with congenital cytomegalovirus‐related ...
A. Michel Sandström, E. Karltorp, U. Löfkvist   +2 more
wiley   +1 more source

Sensory Neuroscience—Charting the Course From Molecular Mechanisms to Clinical Translation

Sensory Neuroscience, EarlyView.
Renjie Chai
wiley   +1 more source

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

Clinical Endocrinology, EarlyView.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park, Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu‐seon Noh, Hye young Jin, Eun Byul Kwon, Hye Jin Lee, Young‐Jun Seo, Young Suk Shim, Su Jin Kim, Ji‐Eun Lee, Nan Young Kim, Sangkyoon Hong, Min Jae Kang, Il Tae Hwang   +15 more
wiley   +1 more source

Hearing Outcomes During Induction Therapy in ANCA-Associated Vasculitis: Applicability of Sudden Sensorineural Hearing Loss Criteria. [PDF]

J Clin Med
Kaczmarczyk MS, Krzywdzińska S, Rozbicki P, Usowski J, Jadczak M, Jurkiewicz D, Sobol M, Niemczyk S, Głuch E, Leśniak K.   +9 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Sudden sensorineural olfactory loss: a structured narrative review and proposal for a standardised terminological framework. [PDF]

Front Surg
Al-Bar MH.
europepmc   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Persistent auditory hallucinations despite hearing aid use in bilateral sensorineural hearing loss without evidence of psychosis. [PDF]

SAGE Open Med Case Rep
Elhusein B, Willis N, Ahmed S, De Tubino Scanavino M.   +3 more
europepmc   +1 more source

Significance of Systemic Immune‐Inflammation and Inflammatory Response Indices in Vestibular Neuritis

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction This study investigated the relationship between vestibular neuritis and various systemic inflammatory indices—namely, neutrophil‐to‐lymphocyte ratio (NLR), platelet‐to‐lymphocyte ratio (PLR), monocyte‐to‐lymphocyte ratio (MLR), systemic immune‐inflammation index (SII), and systemic inflammation response index (SIRI) and the ...
Tuğba Tulacı, Mustafa Utku Akbaş, Hasan Çanakçı, Tarık Yetişir, Kamil Gökçe Tulacı, Haşmet Yazıcı, Gulendam Kayıkçı, Omer Hizli   +7 more
wiley   +1 more source