Results 71 to 80 of about 3,467 (169)

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

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

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

Kasus Pterigium Di Poliklinik Mata Rsup Prof. Dr. R. D. Kandou Manado Periode Januari – Desember 2011 [PDF]

, 2013
: Pterygium is a triangular-shaped tissue growth fibrovascular that grows from the conjunctiva to the cornea in the area interpalpebra. Pterygium of the conjunctiva grows wings shaped in accordance with bulbi.Prevalence pterygium Perdami Clinical ...
Rares, L. (Laya), Saerang, J. S. (J), Yumte, M. (Margaretha)   +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

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

Inferior limbal-conjunctival autograft transplantation for recurrent pterygium

Indian Journal of Ophthalmology, 2000
Purpose: To study the safety and efficacy of inferior limbal-conjunctival autograft (LCAT) transplantation in the surgical management of recurrent pterygium. Methods: Prospective non-comparative case series.
Wong Angus, Rao Srinivas, Leung Alfred, Poon Agnes, Lam Dennis   +4 more
doaj  

Corneal and Scleral Dellen after an Uneventful Pterygium Surgery and a Febrile Episode

Case Reports in Ophthalmology, 2014
Introduction: We describe a patient with corneal and scleral dellen, which occurred after an uneventful pterygium excision without adjunctive therapy and a subsequent febrile episode. Case Report: A 43-year-old woman presented with a history of recurrent
Massimo Accorinti, Marta Gilardi, Marco Giubilei, Daniele De Geronimo, Ludovico Iannetti   +4 more
doaj   +1 more source

The Role of Decorin in the Ocular Surface: Structure, Function, and Therapeutic Potential

Proteoglycan Research, Volume 3, Issue 3, July 2025.
ABSTRACT The ocular surface, comprising the cornea, conjunctiva, and sclera, relies on a complex extracellular matrix (ECM) for structural support and functional integrity. Decorin (DCN), a small leucine‐rich proteoglycan, a key ECM component involved in collagen fibrillogenesis, growth factor modulation, and cellular regulation, is essential for ...
Kartik Goel, Anil Tiwari, Shruti Rathore, Swati Sood, Virender S. Sangwan, Rajiv R. Mohan   +5 more
wiley   +1 more source

Health Technology Assessment zur medizinischen Wirksamkeit und Kosten-Effektivität der Phototherapeutischen Keratektomiemit dem Excimerlaser bei rezidivierenden Erosionen, Hornhautdystrophien, Hornhautdegenerationen und oberflächlichen Hornhautnarben [PDF]

, 2005
Hintergrund und Fragestellung: Die phototherapeutische Keratektomie mit dem Excimer-Laser (PTK) wird bei rezidivierenden Hornhauterosionen, oberflächlichen Hornhautdystrophien, zentralen Hornhautdegenerationen, oberflächlichen Hornhautnarben und ...
Hessel, Franz, Laube, T., Schnell-Inderst, P., Wasem, Jürgen   +3 more
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