Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency [PDF]
MedicinaBackground and Objectives: Severe combined immunodeficiency (SCID) represents a group of rare and potentially fatal monogenic disorders arising from pathogenic variants in a broad spectrum of genes.
Evangelos Bakaros +13 more
doaj +2 more sources
Diagnostic and Predictive Utility of Plasma Phosphoethanolamine Levels in Depressive Disorder: A Naturalistic Observational Study. [PDF]
Int J Methods Psychiatr ResABSTRACT Objectives Plasma phosphoethanolamine (PEA) has been proposed as a potential biomarker for depressive disorder. To further assess its diagnostic utility and relevance across psychiatric conditions, we conducted a larger observational study in a psychiatric primary care setting.
Kawamura N +6 more
europepmc +2 more sources
Validation of the SCID-hu Thy/Liv mouse model with four classes of licensed antiretrovirals. [PDF]
, 2007 BackgroundThe SCID-hu Thy/Liv mouse model of HIV-1 infection is a useful platform for the preclinical evaluation of antiviral efficacy in vivo.
A Adachi +67 more
core +8 more sources
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. [PDF]
, 2015 Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary ...
Candotti, Fabio +6 more
core +2 more sources
Diagnostic value of the Dutch version of the MCclean Screening instrument for BPD (MSI-BPD) [PDF]
, 2015 Borderline personality disorder (BPD) often goes unrecognized, and therefore a short but accurate screening tool is desired. The present study investigated the psychometric properties of the 10-item McLean Screening Instrument for BPD (MSI-BPD) in 159 ...
Andre, JA +2 more
core +2 more sources
Adequate screening of youngsters for depressive characteristics [PDF]
, 2013 Introduction. In order to set up an effective early-detection of depressive symptoms in youngsters, the current study aims to investigate whether two measure moments of the Children's Depression Inventory (CDI) improve screening and whether a multi ...
Braet, Caroline +4 more
core +2 more sources
Regulated progression of B lymphocyte differentiation from cultured fetal liver. [PDF]
, 1987 Lymphoid fetal liver cultures (LFLC) are long-term, nontransformed cultures of early B lymphoid lineage cells which appear developmentally blocked at the pre-B stage in vitro.
Denis, KA, Dorshkind, K, Witte, ON
core +2 more sources
Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]
, 2017 BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...
Aleman, M +3 more
core +1 more source
Immunological Emergency in Neonate: Case Report and Role of Early Screening
American Journal of Perinatology Reports, 2018 Healthy looking newborns may have severe combined immunodeficiency (SCID), and neonatologists frequently are the first physicians to encounter these patients.
Veronica Mugarab Samedi +3 more
doaj +1 more source
Congenital Athymia: Unmet Needs and Practical Guidance
Therapeutics and Clinical Risk Management, 2023 Evey Howley,1 E Graham Davies,1 Alexandra Y Kreins1,2 1Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 2Infection, Immunity and Inflammation Research & Teaching Department, University
Howley E, Davies EG, Kreins AY
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