Results 61 to 70 of about 11,478 (246)

Differential in vitro infection of neural cells by astroviruses [PDF]

, 2019
Encephalitis remains a diagnostic conundrum in humans as over 50% of cases are managed without the identification of an etiology. Astroviruses have been detected from the central nervous system of mammals in association with disease, suggesting that this
Janowski, Andrew B, Klein, Robyn S, Wang, David   +2 more
core   +2 more sources

A Review of Primary Immune Deficiency Disorders

European Medical Journal Allergy & Immunology, 2020
This scenario-based review of primary immunodeficiency diseases (PIDD) discusses the differential diagnosis, usual presentations, work-up, and treatment of children with the most commonly encountered immune disorders.
Talin Darian, Joudeh B. Freij, Divya Seth, Pavadee Poowuttikul, Elizabeth Secord   +4 more
doaj  

X-linked agammaglobulinemia and isolated growth hormone deficiency

The Turkish Journal of Pediatrics, 1998
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan, T Patiroğlu, M Kendirci, S Kurtoğlu   +3 more
doaj  

Monogenic Common Variable Immunodeficiency (Mo‐CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort

European Journal of Immunology, Volume 55, Issue 3, March 2025.
A mutation was identified in 47% of the CVID‐enrolled patients and, in the majority, it was not related to CVID according to the IUIS classification, leading to a diagnostic metamorphosis of this pathological entity. The Mo‐CVID Score could help clinicians prioritize genetic analysis in pediatric CVID patients. The image was created with BioRender.com.
Federica Barbati, Lorenzo Lodi, Silvia Boscia, Martina Cortimiglia, Elisa Calistri, Francesca Quaranta, Laura Maggi, Alessio Mazzoni, Boaz Palterer, Francesco Annunziato, Chiara Azzari, Silvia Ricci   +11 more
wiley   +1 more source

Oral management of a patient with down syndrome and agammaglobulinemia: a case report

BMC Oral Health, 2020
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto, Kohsuke Imai, Yoshio Ohyama, Haruhisa Fukayama, Osamu Shinozuka   +4 more
doaj   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Molecular diagnostics of primary immunodeficiencies in Sverdlovsk region

Медицинская иммунология, 2021
The article presents the results of the work performed by the laboratory of molecular diagnostics at the Medical Center “Health Care of Mother and Child” for the diagnosis of primary immunodeficiency in Sverdlovsk region over 5 years.
S. S. Deryabina, O. V. Lagutina, I. A. Tuzankina, E. V. Vlasova, M. A. Bolkov   +4 more
doaj  

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing ...
Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk   +14 more
wiley   +1 more source

Chapter Three. EED library as a basis for systematic reviews [PDF]

, 2016
3.1 Defining Systematic Review Question Priorities 3.2 Determining Relevance to the Systematic Review 3.3 Acquisition of References and Copyright Fair Use Compliance 3.4 Documenting Relevance to the Systematic Review 3.5 Data Extraction for the ...
Denno, Donna M, Musser, Christine A, Nelson, Zakia C, Tarr, Phillip I, VanBuskirk, Kelley M   +4 more
core   +1 more source

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan

Pediatrics International, Volume 67, Issue 1, January/December 2025.
Abstract Purpose Severe combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer.
Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu‐Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui‐Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh, Amit Rawat, Surjit Singh, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama   +17 more
wiley   +1 more source