Results 51 to 60 of about 10,731 (180)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Campylobacter jejuni Pericarditis: A Case Report

Acta Médica Portuguesa, 2022
Campylobacter jejuni is one of the most common causes of enteritis. In rare cases, extraintestinal infection can occur, with a handful of cases of cardiac involvement, of which the pathophysiological mechanism is unclear.
Joao Neves-Maia, Catarina Gomes, António Marinho, Rute Alves   +3 more
doaj   +1 more source

Transient B cell lymphopenia revealed by KRECs newborn screening: Post‐screening referral strategies, clinical course, and follow‐up

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Isolated low KREC and B‐cell lymphopenia in newborns often resolve spontaneously. This multicenter cohort tracked these cases via telemedicine. Repeating KREC testing on a second dry blood spot (DBS) before specialist referral reduces unnecessary immunologic evaluations.
Guarnieri Valentina, Drago Enrico, Pelosi Caterina, Boscia Silvia, Schena Francesca, Traverso Monica, Aloi Concetta, Salina Alessandro, Palmeri Serena, Cassanello Michela, Maghnie Mohamad, Astorino Valeria, Lodi Lorenzo, Azzari Chiara, Volpi Stefano, Ricci Silvia   +15 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  

Presentation of a case of Bruton type primary agammaglobulinemia in Guinea

The Pan African Medical Journal, 2020
X-linked agammaglobulinemia (XLA) is a rare genetic disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene. It is characterized by a profound deficiency of B cells and a decrease in all classes of immunoglobulins (Ig).
Kaba Condé, Hugues Ghislain Atakla, Mamadou Ciré Barry, Mohamed Lamine Condé, Malé Doré   +4 more
doaj   +1 more source

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

Immunity, Inflammation and Disease, 2023
Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia   +3 more
doaj   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Long‐Term Outcomes of Reduced‐Intensity Conditioning Hematopoietic Stem Cell Transplantation for Patients With Systemic Sclerosis With Impaired Cardiac Function

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1294-1305, June 2026.
Objective High‐intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced systemic sclerosis (SSc). The role of reduced‐intensity conditioning (RIC) before AHSCT in this population remains unclear.
Yonatan Lean, Carrie Richardson, Anthony J. Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Pharmacokinetic Model Based Sensitivity Analysis to Lower Recruitment Burden for Young Children Requiring Intravenous Immunoglobulin G Replacement

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 6, June 2026.
ABSTRACT To support a post‐marketing requirement for pharmacokinetic (PK)‐focused assessments in patients ages 2–16 years, a model‐informed drug development approach was used to overcome enrollment barriers in recruiting pediatric subjects with primary immune deficiency (PID) disorders under Age 6 in a Phase 4 pediatric study.
Todd Dumas, Shahram Mehr, Rebecca Avila, Amy Doman, Kaitlin Kestenberg, Isaac Melamed   +5 more
wiley   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, Volume 20, Issue 5, Page 1299-1322, May 2026.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source