Results 181 to 190 of about 97,595 (299)

Kawasaki Disease in a Child With Trisomy 18 Treated With Initial Combination Therapy, Including Cyclosporine. [PDF]

Case Rep Pediatr
Sahara Y, Yagi N, Watanabe Y, Aoki K, Iwaku T, Tominaga M, Ikeda H.   +6 more
europepmc   +1 more source

Hemophagocytic Lymphohistiocytosis Triggered by Legionella pneumophila and SARS‐CoV‐2 Infection in GATA2 Deficiency

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Germline GATA2 deficiency predisposes to bone marrow failure, myeloid neoplasia, and immune dysregulation. The syndrome is often complicated by infection with intracellular pathogens and viruses, autoimmunity, and inflammation. Hemophagocytic lymphohistiocytosis (HLH) is a rare occurrence that can present further management challenges.
Harry Wilson, Nuno Borges, Matthew Collin, Callum Wright   +3 more
wiley   +1 more source

Prenatal genetic testing and potential consequences. [PDF]

Med Genet
Jauch SF, Klaritsch P.
europepmc   +1 more source

Chronic lymphocytic leukemia with IGH::BCL3‐translocation is characterized by a homogeneous and distinct genetic and epigenetic landscape

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Approximately 1% of chronic lymphocytic leukemia (CLL) cases harbor a translocation juxtaposing the immunoglobulin heavy chain (IGH) and B‐cell lymphoma 3 (BCL3) loci. Aiming at comprehensive molecular characterization of IGH::BCL3‐positive B‐cell neoplasms, we here investigated samples from 84 patients using fluorescence in situ hybridization
Cosima Drewes, Cristina López, Juan Emilio Martinez‐Manjón, Nnamdi Okeke, Billy Jebaraj, Susanne Bens, Björn Brändl, Martin J. S. Dyer, Barbara Eichhorst, Anja Fischer, Kirsten Fischer, Sandra Robrecht, Michael Hallek, Selina Glaser, Sina Hillebrecht, Sandrine Jayne, Helene Kretzmer, Anja Mottok, Franz‐Josef Müller, Christof Schneider, Ole Ammerpohl, Coral del Val, Stephan Stilgenbauer, Eugen Tausch, Reiner Siebert   +24 more
wiley   +1 more source

Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities. [PDF]

PLoS One
Fu G, Hu S.
europepmc   +1 more source

Transoral Robotic Lingual Tonsillectomy for Pediatric Obstructive Sleep Apnea

The Laryngoscope, Volume 136, Issue 5, Page 2332-2339, May 2026.
ABSTRACT Objectives Our objective was to investigate the safety and efficacy of transoral robotic surgery (TORS) lingual tonsillectomy (LT) with and without epiglottopexy and to compare it with non‐robotic approaches for children with obstructive sleep apnea (OSA).
Daniel J. Campbell, Daron Excel, W. Jack Palmer, Heather C. Nardone, Douglas R. Johnston   +4 more
wiley   +1 more source

Survival in infants with trisomy 18, palliative care and ethical reflections: a single center considerations. [PDF]

Ital J Pediatr
Caggiano S, Persia S, D'Amore F, Macchiaiolo M, Fornari M, Clemente V, Paglietti MG, Schiavino A, Butera G, Filippelli S, Zucaro L, Cutrera R.   +11 more
europepmc   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Mid-Atlantic Ethics Committee Newsletter, Spring 2018 [PDF]

, 2018

core   +1 more source

Analysis of copy number variations and candidate genes in recurrent pregnancy loss. [PDF]

PeerJ
Wang L, Yang L, Li S, Liu X, Tang P.
europepmc   +1 more source