Results 131 to 140 of about 47,680 (217)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Human versus AI in audiological practice: A comparative evaluation of ChatGPT and physician treatment decisions in idiopathic sudden sensorineural hearing loss. [PDF]

PLoS One
Caragli V, Pellegrino M, Pingani L, Galeazzi GM, Soloperto D, Genovese E, de Filippis C, Marioni G, Franz L.   +8 more
europepmc   +1 more source

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Statement of Retraction: MiR-106a facilitates the sensorineural hearing loss induced by oxidative stress by targeting connexin-43. [PDF]

Bioengineered
europepmc   +1 more source

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report. [PDF]

BMC Pediatr
Sadek AA, Aladawy MA, Hassan K, Mansour TMM, Naser M, Elmoursy MM, Hedewy S, Hagag A, Mohamed KR, Abdelkreem E.   +9 more
europepmc   +1 more source

Robotic‐Assisted Electrode Array Insertion Improves Stability of Acoustic Hearing Thresholds

The Laryngoscope, Volume 136, Issue 7, Page 3146-3154, July 2026.
This study evaluated the impact of robotic‐assisted electrode array insertion on rates of delayed‐onset hearing loss (DOHL). DOHL occurred in 22 of 60 subjects (37%) in the manual cohort compared with 2 of 29 subjects (7%) in the robotic‐assisted cohort, representing a statistically significant reduction (p = 0.002).
Uzair A. Khan, Rachel A. Scheperle, Grant Podhajsky, Meggan J. Lind, Camille C. Dunn, Alexander D. Claussen, Bruce J. Gantz, Marlan R. Hansen   +7 more
wiley   +1 more source

From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring. [PDF]

Diseases
Kovacevic G, Cirkovic S, Petrovic G, Stanojevic M, Lalic T, Ilic N, Ostojic S, Siljic M, Alimpic B, Tesic M, Ilic P, Krstic J, Cirkovic J, Sarajlija A.   +13 more
europepmc   +1 more source

Recurrent Maxillary Ameloblastoma Presenting as an External Auditory Canal Mass

The Laryngoscope, Volume 136, Issue 7, Page 3221-3224, July 2026.
Ameloblastoma with temporal bone involvement is exceedingly rare, with no prior reports of external auditory canal presentation. This case report demonstrates successful multidisciplinary management with extensive skull base resection and adjuvant radiation therapy, emphasizing the role of proton therapy in achieving tissue‐sparing treatment and long ...
Bailey H. Duhon, Adel K. El‐Naggar, Jeffrey N. Myers, William H. Morrison, Franco DeMonte, Paul W. Gidley   +5 more
wiley   +1 more source

Coexistence of Proteinase 3 (PR3)-Positive Granulomatosis With Polyangiitis and Genetically Confirmed Alport Syndrome in a 31-Year-Old Female Patient: A Diagnostic and Management Challenge. [PDF]

Cureus
Valdes L, Ludena A, Pantoja Miranda JC, Ortiz J, Angly S.   +4 more
europepmc   +1 more source

Aging and Hearing with Vestibular Schwannoma Beyond Presbycusis: A Large Cross‐Sectional Audiometric and Volumetric Study

OTO Open, Volume 10, Issue 3, July-September 2026.
Abstract Objective To identify predictors of auditory function in treatment‐naïve vestibular schwannomas (VS) while accounting for age‐related hearing loss, investigating baseline volumetrics and audiometrics in a pre‐intervention stereotactic radiosurgery (SRS) cohort. Study Design Cross‐sectional study.
Sami Barrit, Mejdeddine Al Barajraji, Salim El Hadwe, Jérome R. Lechien, Daniele Morelli, Cécile Renier, Nicolas Massager   +6 more
wiley   +1 more source