Results 181 to 190 of about 54,030 (246)

Modeling the Influence of Large Particles on Optical Properties of Nuclear Cataracts: Insights from Enhanced LOCS III-Based Computational Analysis. [PDF]

Diagnostics (Basel)
Lee CH, Chen YJ, Chuang YC, Woo GC, Lin FC, Huang SY.   +5 more
europepmc   +1 more source

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

Evaluation of Social Media Short-Form Video Content for Patient Education on Vision-Threatening Diseases. [PDF]

J Ophthalmol
Patel RH, Mothy D, Boinpally N, Choudhry HS, Bhavsar P, Khouri AS.   +5 more
europepmc   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Content Analysis of a Congenital Cataract Social Media Support Group. [PDF]

Clin Ophthalmol
Zhou A, Kraus CL.
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Risk of adverse events in elotuzumab-treated patients with multiple myeloma: a systematic review and meta-analysis. [PDF]

Ann Med
Yan Z, Dong H, Du Y, Li D, Liu L.
europepmc   +1 more source

Comparison of Piezoelectric and High‐Speed Drills for Frontal Beak Osteotomy in Endoscopic Sinus Surgery—Exploratory Study

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction Frontal beak reduction is a critical and challenging step in endoscopic sinus surgery (ESS) for chronic rhinosinusitis (CRS). Traditional high‐speed drills can risk thermal injury and soft tissue trauma, whereas piezoelectric surgery uses ultrasonic vibrations for selective bone cutting and may improve surgical precision.
Łukasz Skrzypiec, Kornel Szczygielski, Agnieszka Brociek‐Piłczyńska, Dariusz Jurkiewicz, Marta Aleksandra Kwiatkowska   +4 more
wiley   +1 more source

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes. [PDF]

Am J Med Genet A
Haanpää MK, Haldeman-Englert CR, Hietala M, Tanverdi MS, Koty PP, Brightman D, Dosunmu E, Tibrewal S, Kaur S, Kaur A, Verma RK, de Alba Campomanes AG, Utz V, Slavotinek AM, Curry C.   +14 more
europepmc   +1 more source

Economic burden of type 2 diabetes management in France according to clinical characteristics

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aim We sought to investigate the treatment, medication patterns, and economic burden of type 2 diabetes (T2D) in France. Materials and Methods This was a descriptive retrospective cross‐sectional study of a representative sample of adults in the national healthcare system claims database in 2022.
Bruno Guerci, Christèle Blanc‐Bisson, Eric Vicaut, Gérard De Pouvourville, Bruno Detournay, Corinne Emery, Isabelle Bureau, Taos Ihaddadene‐Salzgeber, Fleur Levrat‐Guillen, Jean‐Pierre Riveline   +9 more
wiley   +1 more source