Results 221 to 230 of about 5,715,596 (356)

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

A contemporary overview of severe community-acquired bacterial infections in pediatric intensive care units. [PDF]

Ann Intensive Care
Levy M, Mary A, Cour Andlauer F, Rousseaux J, Berthomieu L, Brehin C, Bechet S, Sierra-Colomina M, Aupiais C, Angoulvant F, Launay E, Dubois D, Cohen R, Leteurtre S, CAPRICE Study Group, Levy C, Javouhey E.   +16 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Assessment of Electronic Clinical Monitoring Systems in the Pediatric Intensive Care Unit: Prospective Concordance Study. [PDF]

JMIR Form Res
Pham D, Tachinardi P, Bulgarelli L, Dos Reis Lucena W, Mendonca E, Rogerson C.   +5 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Pediatric intensive care follow-up in Germany is rarely established and highly heterogeneous: a nationwide survey of 20 PICUs. [PDF]

Mol Cell Pediatr
Goretzki SC, Biedermann R, Brenner S, Daniels A, Dohna-Schwake C, Fiedler K, Fortmann I, Fuchs H, Giese S, Heimann K, Härtel C, Hort S, Irlbeck S, Lampe S, Lieftüchter V, Masjosthusmann K, Merker M, Overberg D, Reiss I, Sentner CP, Soler Wenglein J, Heuvel IVD, Vierzig A, Warncke G, Westhoff JH, Mand N, Bruns N, Section of Pediatric Intensive Care, Emergency Medicine of the German Interdisciplinary Association of Intensive Care, Emergency Medicine (DIVI).   +29 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Antifungal Stewardship in the Pediatric Intensive Care Unit: Time is of the Essence. [PDF]

Infect Drug Resist
Chorafa E, Iosifidis E, Tzika C, Papathanasiou AI, Roilides E.   +4 more
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Prevalence and magnitude of muscle loss in the pediatric intensive care unit assessed by ultrasound: a systematic review and meta-analysis. [PDF]

J Pediatr (Rio J)
Nazaré MA, Carvalho ONAMLF, Ferraz DD, Martinez BP.   +3 more
europepmc   +1 more source