Results 71 to 80 of about 1,137,601 (187)

Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding) [PDF]

Journal of Clinical and Diagnostic Research, 2013
Inherited bleeding disorders contribute significantly to the incidence and prevalence of Heavy Menstrual Bleeding (HMB), and contrary to popular belief can present any time during the reproductive years of a woman’s life.
Amita Ray, Sujoy Ray, Jose John Matthew
doaj   +1 more source

The Hermansky–Pudlak Syndrome

Medicine, 1985
Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency.
RONALD A. DEPINHO, KAREN L. KAPLAN
openaire   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Raghad N. Shihab, Rusul Thabit Hamid, Mostafa Neissi, Javad Mohammadi‐Asl, Motahareh Sheikh‐Hosseini, Elaheh Nekouei   +5 more
wiley   +1 more source

Adaptor protein complexes and intracellular transport

Bioscience Reports, 2014
The AP (adaptor protein) complexes are heterotetrameric protein complexes that mediate intracellular membrane trafficking along endocytic and secretory transport pathways. There are five different AP complexes: AP-1, AP-2 and AP-3 are clathrin-associated
Sang Yoon Park, Xiaoli Guo
doaj   +1 more source

Electron micrograph of platelets and chest computed tomography scans in patients with Hermansky-Pudlak syndrome.

, 2018
Representative whole-mount electron micrographs of platelets from a patient with Hermansky-Pudlak syndrome (A) and normal platelets (B) are shown (bar = 1 micrometer). Normal platelets contain delta granules (arrows), and platelets from patients with HPS
Ye Cui (2273386), Kevin J. O’Brien (3147789), Steven D. Nathan (355595), Ivan O. Rosas (315478), Jean M. Connors (4971772), Philip C. Camp Jr. (4971781), Melissa A. Merideth (4971778), Bernadette R. Gochuico (355593), Vladislav Speransky (4971766), William A. Gahl (169534), Todd L. Astor (4971769), Souheil El-Chemaly (705219), Merte Lemma (4971775), Gerald L. Weinhouse (4971784), Hilary J. Goldberg (3097875)   +14 more
core   +1 more source

HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION – REVIEW ARTICLE AND CASE REPORT

Slovenska pediatrija, 2022
Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised.
Urška Berden, Lidija Kitanovski, Darja Urlep   +2 more
doaj   +1 more source

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab

, 2006
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the triad of oculocutaneous albinism, platelet dysfunction and accumulation of ceroidlike pigment in ...
TUNCER, Murat, ERDAMAR, Sibel, Cosgun, Süleyman, Dobrucali, AHMET MERİH, ERZIN, Yusuf, Tasyurekli, Mustafa   +5 more
core   +2 more sources

The Interconnected World of Dermatology and Ophthalmology

JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das, Prajwal Pudasaini   +4 more
wiley   +1 more source