Results 61 to 70 of about 1,611,821 (178)

Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?

Journal of Cardiovascular Development and Disease, 2019
Hypoplastic left heart syndrome occurs in up to 3% of all infants born with congenital heart disease and is a leading cause of death in this population. Although there is strong evidence for a genetic component, a specific genetic cause is only known in ...
Paul Grossfeld, Shuyi Nie, Lizhu Lin, Lu Wang, Robert H. Anderson   +4 more
doaj   +1 more source

Therapeutic Exercise Protocol During Hospitalization in Pediatric Oncohematological Patients: Randomized Clinical Trial

Physiotherapy Research International, Volume 31, Issue 4, October 2026.
ABSTRACT Background Leukemias, lymphomas, and central nervous system tumors are among the most common pediatric cancers and may lead to motor deficits, impaired balance, reduced muscle strength, fatigue, and decreased functional capacity. Early physiotherapy during hospitalization may help prevent inactivity and support functional preservation in this ...
Cintia Freire Carniel, Bruna Cunha de Souza, Henrique Ferreira Leite, Juliana Zangirolami‐Raimundo, Rodrigo Daminello Raimundo   +4 more
wiley   +1 more source

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder

Frontiers in Psychiatry
IntroductionARHGAP32 gene (Rho GTPase Activating Protein 32) encodes a Rho GTPase activating protein, which is vital for the regulation of synaptic plasticity and cytoskeletal dynamics.
Lara Cirnigliaro, Lucia Saccuzzo, Viviana Marzà, Martina Randazzo, Maria Perdichizzi, Corrado Romano, Corrado Romano, Marco Fichera, Marco Fichera, Renata Rizzo, Rita Barone, Rita Barone   +11 more
doaj   +1 more source

Science Is a Lot of Fun: How Professor Jes Olesen Made Discoveries in Migraine

European Journal of Neurology, Volume 33, Issue 10, October 2026.
The human provocation model, cortical spreading depression during the aura and the identification of CGRP all came from one investigator following the same method for 60 years. Marking the 85th birthday of Professor Jes Olesen, Honorary Member of the EAN and founder of the European Journal of Neurology, this interview describes how each discovery was ...
Elena R. Lebedeva
wiley   +1 more source

Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

Molecular Cytogenetics, 2011
Background Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-
Zagorac Andreja, Marcun Varda Natasa, Krgovic Danijela, Kokalj-Vokac Nadja   +3 more
doaj   +1 more source

Wearable Electronic Monitoring of Vital Signs in Hospitalised Adults: A Nursing Focused Scoping Review of Clinical, Economic and Implementation Outcomes

Journal of Advanced Nursing, Volume 82, Issue 10, Page 9061-9111, October 2026.
ABSTRACT Aim To synthesise evidence on wearable devices for continuous vital signs monitoring in adult hospital inpatients, focusing on clinical effectiveness, nursing perspectives, workflow impact, patient experience and resource implications. Design Scoping review.
Sian Myfanwy Shaw, Sophie Bethan Shaw, Gillian Janes   +2 more
wiley   +1 more source

Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation

, 2012
[[abstract]]We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures.
陳持平;Chen, Chih-Ping
core  

Larry Jacobsen interview (audio)

, 2001
Interview with Larry Jacobsen, the principal of Adams Elementary School - Mr.
Jacobsen, Larry, interviewee;
core  

JACOBSEN SYDNROME – CASE REPORT

Zdravniški Vestnik, 2015
Jacobsen syndrome is a gene syndrome caused by partial deletion of the long arm of chromosome 11.About 20% of children die during the first two years of life, most commonly realated to complications from congenital heart disease, less commonly from ...
Milena Treiber, Tanja Dukić Vuković, Veronika Kropivšek   +2 more
doaj  

Clinical profile and cytogenetics of siblings with Jacobsen syndrome

Journal of Current Research in Scientific Medicine
The clinical care of patients has greatly benefited from the advancement of genetic testing. Over time, a gradual move toward a “genotype-first” strategy and growing use of genome-wide testing techniques such as chromosomal microarray analysis and next ...
Abinaya Gunalan, Priya Jose, Allen David, Peter Prasanth Kumar Kommu   +3 more
doaj   +1 more source