Results 41 to 50 of about 1,654,437 (300)

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
PARISI, Pasquale, Alberto Verrotti, PAOLINO, MARIA CHIARA, CASTALDO, Rosa, Filomena Ianniello, FERRETTI, ALESSANDRO, Francesco Chiarelli, VILLA, MARIA PIA   +7 more
core   +1 more source

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

Unveiling the hidden dance: SPP1 + macrophages identified in ulcerative colitis reveal crosstalk with CHI3L1 + fibroblasts

Journal of Translational Medicine
Background Ulcerative colitis (UC) is a chronic inflammatory bowel disease characterized by persistent inflammation of the colon. The specific cause of UC is still not fully understood, but this condition is believed to arise from a combination of ...
Peiwen Zhou, Tongyu Tang, Pingwei Zhao, Quan Wang, Xintong Hu, Junzhuo Si, Tianshi Yang, Shuai Zhou, Wenyan An, Yanfang Jiang   +9 more
doaj   +1 more source

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

BMC Medical Genomics, 2023
Background The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in human fetuses.
Meiying Cai, Nan Guo, Meimei Fu, Yuqing Chen, Bin Liang, Yanting Que, Qingqiang Ji, Hailong Huang, Liangpu Xu, Na Lin   +9 more
doaj   +1 more source

Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objectives: To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMCs cases detected during prenatal diagnosis at The ...
Shuang Hu, Xiangdong Kong
doaj   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan

BMC Genomic Data
Objective To determine CGG repeat numbers in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene among 1,146 women of childbearing age in Northeast Sichuan, China, and to describe regional carrier prevalence. Methods A total of 1146 cases of women of
Liping Chen, Xuemei Zhang, Yi Song, Li Chen, Yongjun He, Yang Li, Yan Cai, Qi Shi   +7 more
doaj   +1 more source

Clinical features of Tropheryma Whipplei in pediatric pneumonia: an mNGS and tNGS-based case-control study

Frontiers in Cellular and Infection Microbiology
IntroductionTropheryma whipplei (TW), which causes Whipple disease, has recently been associated with respiratory diseases, particularly pneumonia.
Yijia Pan, Na Du, Yong Liu, Ming Wu, Sijia Hao, Yulu He, Yanfang Jiang   +6 more
doaj   +1 more source

COL5A1 Variants Cause Aortic Dissection by Activating TGF‐β‐Signaling Pathway

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Aortic dissection (AD) is one of the most life‐threatening cardiovascular diseases that exhibit high genetic heterogeneity. However, it is unclear whether variants within the COL5A1 gene can cause AD.
Peng Chen, Bo Yu, Zongzhe Li, Yanghui Chen, Yang Sun, Dao Wen Wang   +5 more
doaj   +1 more source