Results 241 to 250 of about 633,963 (350)

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study. [PDF]

Orphanet J Rare Dis
Renous AS, Damaj L, Gorce M, Barth M, Bedu A, Sacaze E, Lamireau D, Laroche-Raynaud C, Pasquier L, Maakaroun-Vermesse Z, Tardieu M, Labarthe F.   +11 more
europepmc   +1 more source

Immediate Therapeutic Response to Vigabatrin in Lissencephaly‐Related Epileptic Spasms due to TUBA1A R402H Variant

American Journal of Medical Genetics Part A, EarlyView.
Toru Nagata, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Mitsuhiro Kato, Tomoyuki Akiyama, Toshiki Takenouchi   +6 more
wiley   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown, Allison D'Aguilar, Quinn Hurshman, Rebekah NailorZee, Timothy P. York, George Capone, Ananda B. Amstadter, Colleen Jackson‐Cook   +7 more
wiley   +1 more source

Prognostic value of global longitudinal strain in hypertrophic cardiomyopathy: A systematic review and meta‐analysis

Clinical Cardiology, Volume 45, Issue 12, Page 1184-1191, December 2022., 2022
Abstract Background As previously reported, impairment of left ventricular global longitudinal strain (LVGLS) is associated with myocardial fibrosis, arrhythmias, and heart failure in hypertrophic cardiomyopathy (HCM) patients. Hypothesis This study aimed to estimate the association between LVGLS measured by echocardiography and major adverse ...
Ying Yang, Dong Wu, Hui Wang, Yanting Wang   +3 more
wiley   +1 more source

An Association between MEFV Mutation and ANCA-Associated Vasculitis Involving the Central Nervous System and Lungs: Causality Under Scrutiny. [PDF]

Eur J Case Rep Intern Med
Villander Barros de Oliveira Sá M, Brito A, Baié M, Pacheco F, Vasconcelos L.   +4 more
europepmc   +1 more source

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report. [PDF]

Biomedica
Fernandes-Pineda M, Zea-Vera AF.
europepmc   +1 more source

Editorial: Inborn Errors of Immunity (IEI) breaking immune homeostasis and tolerance: a key role for T regulatory cells. [PDF]

Front Immunol
De Rosa V, Sogkas G, Bacchetta R.
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Prevalence of pathogenic variants of inborn errors of immunity in critically ill children admitted to the pediatric intensive care unit for sepsis: A Moroccan cohort study. [PDF]

Tunis Med
Aissaoui O, Moundir A, Drissi Boughanbour A, El Bakkouri J, Benhsaien I, Ailal F, Chlilek A, Jouanguy E, Casanova JL, Bousfiha AA.   +9 more
europepmc   +1 more source

Metabolic alterations in human pulmonary artery smooth muscle cells treated with PDGF‐BB

Animal Models and Experimental Medicine, EarlyView.
Metabolic abnormalities are considered to play a key regulatory role in vascular remodeling of pulmonary arterial hypertension. We analyzed the metabolome in the culture supernatants of human pulmonary artery smooth muscle cells (PASMC) during the malignant proliferation phenotype transition via a targeted metabolomics method. Significant and extensive
Meng‐Jie Zhang, Jie‐Jian Kou, Hong‐Da Zhang, Xin‐Mei Xie, Yun‐Feng Zhou, Ping Yuan, Xiao‐Bin Pang, Lu‐Ling Zhao, Jing Qiu, Yang‐Yang He   +9 more
wiley   +1 more source