Results 191 to 200 of about 1,225,648 (255)

Hypertension in Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Al-Khader Abdullah
doaj  

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski, H. Jeffrey Kim, Carmen C. Brewer, Sophia Martinez, Caroline Rieger, Elena Cho, David H. McDermott, Philip M. Murphy   +7 more
wiley   +1 more source

Molecular Biomarkers in Meniere's Disease: A Scoping Review of Current Evidence

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Meniere's disease is a complex chronic inner ear condition that is characterized by vertigo, tinnitus, aural fullness, and progressive hearing loss. Currently, diagnostic strategies remain symptom‐driven, and treatments focus on management of discrete episodes rather than targeting underlying pathophysiology.
Hamza Kamran, Zaharadeen Jimoh, Tariq Issa, Nahla A. Gomaa   +3 more
wiley   +1 more source

Genetic Testing in Movement Disorders: Riding the Wave Without Being Swept Under

Movement Disorders, EarlyView.
Alessio Di Fonzo, Francesca Magrinelli
wiley   +1 more source

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Autosomal Dominant Osteopetrosis

SSRN Electronic Journal, 2022
Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates.
Polgreen, Lynda E., Imel, Erik A., Econs, Michael J.   +2 more
openaire   +5 more sources

Autosomal Dominant Osteopetrosis

Clinical Orthopaedics and Related Research, 1993
Autosomal dominant osteopetrosis is radiographically characterized by universal osteosclerosis, primarily involving the axial skeleton, and by symmetrical affections of the long bones without modeling defects. Based on standard radiographs, it is possible to describe two different subtypes with different clinical, biochemical, and histologic ...
J, Bollerslev, L, Mosekilde
openaire   +2 more sources