Results 51 to 60 of about 2,017,631 (280)

Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak–Higashi Syndrome

Case Reports in Dentistry, 2021
Chédiak–Higashi syndrome (CHS), a rare autosomal recessive disorder associated with leukocyte dysfunction, is characterised by partial skin and hair albinism, immunodeficiency, and abnormal bleeding.
Kasumi Shimizu, Miho Hayashi, Nozomi Ito, Kokoro Hamada, Gaku Koizumi, Kazuto Kurohara, Naoya Arai   +6 more
doaj   +1 more source

Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation [PDF]

, 2009
Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partial albinism'). Three forms exist; GS type 2 (GS2), the most common one, is characterized by severe primary immunodeficiency with acute episodes of ...
Borroni, R, Calvieri, S, Carlesimo, M, Carrozzo, A, de Felice, C, Menichelli, A, Rossi, A   +6 more
core   +1 more source

First report of albinism for Achalinus sheni (Serpentes, Xenodermidae), with extended diagnosis of the species [PDF]

ZooKeys
Albinism is an uncommon phenomenon and inherited condition in animals characterized by a partial or complete lack of melanin. The family Xenodermidae Gray, 1849, is a group of caenophidian snakes widely distributed in South, East, and Southeast Asia ...
Yu-Hao Xu, Shuai Wang, Shun Ma, Frank T. Burbrink, Li-Fang Peng, Song Huang   +5 more
doaj   +3 more sources

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear

Pediatric Allergy and Immunology
Primary immunodeficiency diseases (inborn errors of immunity) with partial albinism are a group of autosomal recessive syndromes including Chediak Higashi Syndrome (CHS), Griscelli Syndrome type 2 (GS2), Hermansky‐Pudlak Syndromes type 2 and 10 (HPS2 ...
S. Tajik, M. Fazlollahi, Zahra Alizadeh, M. Badalzadeh, M. Houshmand, A. Razaghian, S. Bahram, Anne Molitor, R. Carapito, M. Shariat, A. Hamidieh, N. Behniafard, Babak Abdolkarimi, Tahereh Rostami, M. Moin, Z. Pourpak   +15 more
semanticscholar   +1 more source

Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]

, 2011
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A, de Berardinis, T, Di Iorio, V, FAZZI, Elisa Maria, Fecarotta, S, Fossarello, M, Galantuomo, Ms, Gargiulo, A, Iovine, A, Macaluso, C, Magli, A, Montefusco, S, Neri, A, Rossi, S, Signorini, S, Simonelli, F, Surace, Em, Testa, F   +17 more
core   +2 more sources

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

A case of partial leucism in the American Barn Owl (Tyto furcata) (Temminck, 1827), from Buenos Aires province, Argentina [PDF]

, 2014
The diverse colorations of a birds’ plumage are due to either structural colors or pigments that are synthesized in specialized cells or incorporated through the diet.
Chiale, Maria Cecilia, Pagano Luis Gerardo   +1 more
core  

Sol–Gel Derived Polymer Precursors for Stereolithography of ZrC

Advanced Engineering Materials, EarlyView.
ZrC is a critical material target for extreme temperature conditions. This report describes a protocol for preparing ZrC ceramics via stereolithography and examines the impact of the polymer matrix on carbothermal reduction and mechanical stability of 3D printed ZrC.
Charles J. Rafalko, Evelyn Wang, Michael A. Hickner   +2 more
wiley   +1 more source

Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder [PDF]

Journal of Clinical and Diagnostic Research, 2015
Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an ...
Pooja Jaiswal, Yogesh Kumar Yadav, Nilam Bhasker, Rashmi Kushwaha   +3 more
doaj   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source