Results 71 to 80 of about 4,184 (265)

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Excisão de Pterígio Primário com Autotransplante Conjuntival e Cola Biológica [PDF]

, 2011
Introdução: O Pterígio é uma patologia frequente e o seu tratamento cirúrgico é consensualmente aceite. Diferentes opções cirúrgicas e variantes estão descritas: enquanto alguns métodos caíram em desuso pela sua elevada taxa de recidiva, outros foram ...
Alves, N, Candelária, P, Maduro, V, Paixão, A, Trincão, F   +4 more
core  

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa [PDF]

, 2017
BACKGROUND: Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and ...
Birkeland, Butali, Butali, Desmyter, Dixon, Fakhouri, Ferreira de Lima, Ghassibe, Kondo, Kwa, Leslie, Malik, Marazita, Medeiros, Mossey, Neiswanger, Nopoulos, Peyrard-Janvid, Rahimov, Rorick, Rutledge, Sarode, Vieira, Weinberg, Wu-Chou, Yeetong, Zucchero   +26 more
core   +3 more sources

Stridor Misleading as Asthma: Unveiling Case of Shabbir Syndrome in an Atopy‐Prone 2.5 Years Old Pakistani

Respirology Case Reports, Volume 13, Issue 11, November 2025.
Laryngo‐onycho‐cutaneous syndrome (LOCS), or Shabbir's syndrome, linked to mutations in the LAMA3 gene, is predominantly observed in children from Punjabi families. We present the case of a 2.5‐year‐old male with LOCS who was initially misdiagnosed with asthma due to progressive hoarseness and stridor.
Nabeel Ahmad, Ali Gohar, Abdul Rehman Shahid Khan, Armaghan Hanif, Rohail Sani, Khizra Saeed, Masab Ali, Muhammad Husnain Ahmad, Fida Hussain   +8 more
wiley   +1 more source

Recurrent atypical fibroxanthoma of the limbus [PDF]

, 2013
Author version made available in accordance with the publisher's policy.We report an unusual presentation of recurrent atypical fibroxanthoma of the limbus.
Brennan, Catriona, Craig, Jamie E, Ullrich, Katja, Wells, Jane   +3 more
core   +1 more source

Dermatologic Conditions Associated With Various Types of Popular Nail Cosmetics: A Systematic Review of Existing Literature and Future Recommendations

Journal of Cosmetic Dermatology, Volume 24, Issue 10, October 2025.
ABSTRACT Introduction Enthusiasm for manicures is at a high amongst young populations and has led to a growth in nail cosmetology in the last decade. Reviewing the known nail and cutaneous adverse outcomes associated with manicures can improve counseling for safe usage. Aims To provide a comprehensive review of cutaneous disorders reported with various
Kiran Javaid, Sonam Mistry, Madeline Tchack, Noah Musolff, Bassem Rafiq, Babar Rao   +5 more
wiley   +1 more source

Efectividad del tratamiento biorregulador en comparación al manejo convencional para la remisión del pterigión [PDF]

, 2017
El Pterigión es un proceso fibrovascular hiperplásico y angiogénico que invade la córnea, tratado generalmente con cirugía cuya principal complicación es la recidiva.
Lazo Rivas, Armando Ernesto, Ramírez Velasco, Karla Mariela, Valencia Torres, José Eduardo   +2 more
core  

Topical fl uorouracil after surgery for ocular surface squamous neoplasia in Kenya: a randomised, double-blind, placebo-controlled trial [PDF]

, 2014
Background Ocular surface squamous neoplasia (OSSN) is an aggressive eye tumour particularly aff ecting people with HIV in Africa. Primary treatment is surgical excision; however, tumour recurrence is common. We assessed the eff ect of fl uorouracil 1%
Gichuhi, Stephen, Macharia, Ephantus, Kabiru, Joy, M’bongo Zindamoyen, Alain, Rono, Hilary, Ollando, Ernest, Wachira, Joseph, Munene, Rhoda, Maina, John, Onyuma, Timothy, S Sagoo, Mandeep, A Weiss, Helen, J Burton, Matthew   +12 more
core   +3 more sources

Topical Mitomycin C Application Following Surgical Excision in Canine Oral Papilloma: A Case Report

Veterinary Medicine and Science, Volume 11, Issue 4, July 2025.
Topical application of mitomycin C after surgical excision in a canine oral papilloma case significantly enhanced mucosal recovery and reduced recurrence. This approach demonstrates potential as an adjuvant therapy in oral papillomatosis management. ABSTRACT Canine oral papillomatosis, caused by canine papilloma virus 1, is a benign condition primarily
Jungyeon Yong, Myeongjee Kwon, Haerin Yoon, Sungin Lee, Kyung‐Mee Park   +4 more
wiley   +1 more source

Evidence on the Use of Topical Ciclosporin for Ocular Surface Disease: A Systematic Review and Meta‐Analysis

Clinical &Experimental Ophthalmology, Volume 53, Issue 5, Page 470-492, July 2025.
ABSTRACT Background To identify evidence on the use of topical CsA for ocular surface diseases (OSD). Methods A literature search was conducted following the preferred reporting items for systematic reviews and meta‐analyses (PRISMA) through June 2023 via Cochrane Central Registries, Clinical Trials Registry, Grey literature and citation searching ...
Ngozi C. Chidi‐Egboka, Leo Fan, Maria Qureshi, Chameen Samarawickrama, Fiona Stapleton, Tanya Trinh, Maria Markoulli, Elsie Chan, Jern Yee Chen, Jason Holland, Stephanie L. Watson   +10 more
wiley   +1 more source