Results 31 to 40 of about 460,117 (268)

Novel variant of common variable immunodeficiency [PDF]

BMJ Case Reports, 2017
A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID).
openaire   +2 more sources

Identification of five novel SCN1A variants

Frontiers in Behavioral Neuroscience, 2023
BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the severity of SCN1A disorder, ranging from the mild phenotype (genetic epilepsy with febrile seizures plus ...
Baitao Zeng, Baitao Zeng, Haoyi Zhang, Qing Lu, Qing Lu, Qingzi Fu, Qingzi Fu, Yang Yan, Yang Yan, Wan Lu, Wan Lu, Pengpeng Ma, Pengpeng Ma, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Laipeng Luo, Laipeng Luo, Bicheng Yang, Bicheng Yang, Yongyi Zou, Yongyi Zou, Yanqiu Liu, Yanqiu Liu   +24 more
openaire   +3 more sources

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

Frontiers in Pediatrics
We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia.
Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem   +10 more
doaj   +1 more source

Evidence‐Informed Multidisciplinary Consensus Guidance for the Psychosocial Care of Adolescents With High‐Risk Cancer: Recommendations From the Italian Association of Pediatric Hematology and Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with high‐risk cancer face complex developmental, psychosocial, and ethical challenges that extend beyond disease‐directed treatment. Although international recommendations exist for communication, psychosocial care, pediatric palliative care, survivorship, and shared decision‐making, these have largely evolved within ...
Johanna M. C. Blom, Dorella Scarponi, Giulia Zucchetti, Teresa Perillo, Maria Montanaro, Elisa Marconi, Chiara Rutigliano, Paolo Colavero, Paola Quarello, Marina Bertolotti, Monica Cellini, Carlo Clerici, Maurizio Mascarin, Francesca Bomben, Andrea Ferrari, the expert workgroup   +15 more
wiley   +1 more source

A novel variant in GLIS3 is associated with osteoarthritis [PDF]

Annals of the Rheumatic Diseases, 2018
Osteoarthritis (OA) is a complex disease, but its genetic aetiology remains poorly characterised. To identify novel susceptibility loci for OA, we carried out a genome-wide association study (GWAS) in individuals from the largest UK-based OA collections to date.We carried out a discovery GWAS in 5414 OA individuals with knee and/or hip total joint ...
Elisabetta Casalone, Ioanna Tachmazidou, Eleni Zengini, Konstantinos Hatzikotoulas, Sophie Hackinger, Daniel Suveges, Julia Steinberg, Nigel William Rayner, arcOGEN Consortium, Jeremy Mark Wilkinson, Kalliope Panoutsopoulou, Eleftheria Zeggini   +11 more
openaire   +4 more sources

Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
The incidence of hypomyelinating leukodystrophies is approximately 1 in every 250,000–500,000 individuals in the population. Hypomyelinating leukodystrophy-8 (HLD-8) is characterized by classical clinical features, including modest intellectual deficits ...
Shalesh Rohatgi, Pranit Khandait, Satish Nirhale, Prajwal Rao, Pravin Naphade   +4 more
doaj   +1 more source

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Molecular Genetics & Genomic Medicine, 2022
Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Seyedeh Helia Sadat Fatemi, Peyman Eshraghi, Mahmoud Ghanei, Tayebeh Hamzehloei   +3 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Biomedical Papers, 2017
Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak   +10 more
doaj   +1 more source