Results 51 to 60 of about 4,184 (265)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Comparison of Conjunctival Autograft and Primary Excision for The Surgical Treatment of Primary Pterygium

Boğaziçi Tıp Dergisi, 2019
INTRODUCTION[|]This study is an evaluation of the postoperative results of the conjunctival autograft (CA) and primary excision (PE) surgical techniques.[¤]METHODS[|]Primary pterygium patients who underwent PE surgery and free limbal CA surgery were ...
Ali Olgun, Aylin Ardagil Akçakaya, Dilek Güven   +2 more
doaj   +1 more source

Progression and topographic subtypes of Terrien marginal degeneration

Acta Ophthalmologica, Volume 104, Issue 1, Page 33-43, February 2026.
Abstract Purpose To report long‐term outcomes and to search for immunological and genetic risk factors in Terrien marginal degeneration (TMD). Methods Retrospective, in part prospective, hospital‐based longitudinal follow‐up study of 32 eyes of 16 Finnish patients from 2012 to 2023. Median follow‐up was 7.3 years (range, 0.3–15.2).
Minna Ruutila, Pauliina Repo, Annamari T. Immonen, Joni A. Turunen, Marja‐Liisa Lokki, A. Inkeri Lokki, Jukka Moilanen, Kari Krootila, Tero T. Kivelä   +8 more
wiley   +1 more source

Clinical Presentation of Ocular Surface Squamous Neoplasia in Kenya. [PDF]

, 2015
IMPORTANCE: There is a trend toward treating conjunctival lesions suspected to be ocular surface squamous neoplasia (OSSN) based on the clinical impression.
Burton, Matthew J, Gichuhi, Stephen, Kabiru, Joy, Macharia, Ephantus, Munene, Rhoda, Ollando, Ernest, Onyuma, Timothy, Rono, Hilary, Sagoo, Mandeep S, Wachira, Joseph, Wanyonyi, Leonard, Weiss, Helen A, Zindamoyen, Alain M'bongo   +12 more
core   +1 more source

Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
To understand the relationship between genotype and phenotype in sex chromosome aneuploidies, retrospective cytogenetic and clinical data was collected for Klinefelter Syndrome (n = 57) and Turner Syndrome (n = 92) cases from a single academic medical center from 2013 to 2022. The cohorts were divided into subcategories based on the genotype.
Stephanie A. Hart, Joel A. Morales‐Rosado, Xinxiu Xu, Ashwini K. Yenamandra   +3 more
wiley   +1 more source

Low-Dose Mitomycin C Decreases the Postoperative Recurrence Rate of Pterygium by Perturbing NLRP3 Inflammatory Signalling Pathway and Suppressing the Expression of Inflammatory Factors

Journal of Ophthalmology, 2019
A pterygium is generally believed to be a chronic inflammatory lesion caused by external stimuli that develops from the conjunctiva and grows onto the cornea. Simple bare sclera excision is the most commonly used method to treat pterygium.
Qie Guo, Xiao Li, Meng-Na Cui, Yu Liang, Xiang-Peng Li, Jun Zhao, Li-Na Wei, Xiao-Lei Zhang, Xiang Hua Quan   +8 more
doaj   +1 more source

Surgical result of pterygium extended removal followed by fibrin glue-assisted amniotic membrane transplantation

Journal of the Formosan Medical Association, 2017
To report the recurrence rate and cosmetic results of conjunctival wound edge and caruncle, and complications after pterygium extended removal followed by fibrin glue-assisted amniotic membrane transplantation.
Hsin-Yu Liu, Yuh-Fang Chen, Ta-Ching Chen, Po-Ting Yeh, Fung-Rong Hu, Wei-Li Chen   +5 more
doaj   +1 more source

Results of Conjunctival Autograft Transplantation Combined with Amniotic Membrane Transplantation Surgery in Recurrent Pterygium Cases

Acta Medica Alanya, 2021
Aim: To evaluate the results of conjunctival autograft transplantation (CAT) combined with amniotic membrane transplantation (AMT) surgery in recurrent pterygium cases.Methods: This is a retrospective interventional case series involving patients ...
Cafer Tanrıverdi, Özlem Balcı
doaj   +1 more source

A Novel Application of Injectable PRF for Superior Sulcus Hollowing

Journal of Cosmetic Dermatology, Volume 25, Issue 1, January 2026.
ABSTRACT Background Superior sulcus hollowing is a frequent esthetic concern, commonly managed with synthetic fillers or fat grafts; however, these approaches carry potential risks and costs. Injectable platelet‐rich fibrin (i‐PRF), an autologous regenerative biomaterial, has shown promise in dermatologic and dental applications, but its use for ...
Nese Arslan, Alperen Bahar, Ahmet Alp Bilgic, Şule Barman Kakil   +3 more
wiley   +1 more source

Unveiling Giant Onychomatricoma: A Diagnostic and Therapeutic Challenge

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Onychomatricoma is a rare benign tumor of the nail matrix that is often misdiagnosed due to its resemblance to other nail conditions, particularly onychomycosis. A giant variant, which affects the entire nail structure, is even more uncommon, with fewer than 20 cases documented.
Katherine Nicole Calderón Tiburcio, Winston Damian Brito, Mariel Isa Pimentel, Ana Arisleyda Núñez, Semonti Nandi   +4 more
wiley   +1 more source