Results 41 to 50 of about 442,293 (268)

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity

Medicine Science, 2021
The aim of this study was to determine the prevalence of leptin (LEP), leptin receptors (LEPR), melanocortin-4-receptor (MC4R), proopiomelanocortin (POMC), single-minded 1 (SIM1), and SH2B1 gene variations in Turkish children and adolescents, and to ...
Ayberk Turkyilmaz, Oguzhan Yarali, Erdal Kurnaz, Atilla Cayir   +3 more
doaj   +1 more source

The Combined Effect of Obesity and Contraceptive Use on Pulmonary Embolism in Adolescent Females Residing in the United States

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Combined oral contraceptive (COC) use in obese adult women dramatically increases the relative risk of developing a pulmonary embolism (PE). The risk of a PE in obese adolescent females taking contraceptives is currently unknown. The purpose of this investigation was to determine the effect of body mass index (BMI) and contraceptive
John Puetz, Joanne Salas
wiley   +1 more source

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

Journal of Pediatrics: Clinical Practice
We present a case of X-linked thrombocytopenia (XLT) with a novel WAS gene variant expressing a normal amount of Wiskott-Aldrich syndrome protein (WASp) in lymphocytes. XLT usually decreases WASp expression not only in platelets, but also in lymphocytes.
Serena Hamanaka, MD, Toru Uchiyama, MD, PhD, Tadashi Kaname, MD, PhD, Motohiro Matsui, MD, Hiroshi Yoshihashi, MD, Atsushi Makimoto, MD, PhD, Yuki Yuza, MD, Akira Ishiguro, MD   +7 more
doaj   +1 more source

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Frontiers in Pediatrics, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai   +13 more
doaj   +1 more source

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +1 more source

Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene

Frontiers in Pediatrics, 2022
Cystic fibrosis (CF) is a rare disease in the Japanese. The most common CFTR variant in Japanese CF patients is a large heterozygous deletion that can easily avoid detection by standard gene sequencing methods. We herein report a novel large heterozygous
Mayumi Kawase, Mayumi Kawase, Masato Ogawa, Masato Ogawa, Takayuki Hoshina, Masumi Kojiro, Miyuki Nakakuki, Satoru Naruse, Hiroshi Ishiguro, Koichi Kusuhara   +9 more
doaj   +1 more source

Identification of a novel alpha1-antitrypsin variant

Respiratory Medicine Case Reports, 2017
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells.
Camille de Seynes, C. Ged, H. de Verneuil, N. Chollet, M. Balduyck, C. Raherison   +5 more
openaire   +3 more sources

Feasibility and Safety of Somato‐Cognitive Coordination Therapy for Cerebellar Ataxia Following Pediatric Brain Tumor Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cerebellar ataxia after pediatric brain tumor treatment can cause persistent gait, balance, and speech impairment, yet no established rehabilitation strategy exists. Somato‐cognitive coordination therapy (SCCT) is a virtual reality–guided intervention designed to promote sensorimotor integration through visually constrained reaching
Masanobu Takeuchi, Takashi Matsuzawa, Jun Yamanishi, Masahiro Yoshitomi, Junji Ikeda, Shin‐Ichi Tsujimoto, Yasuteru Yamaguchi, Norio Shiba, Dhroov Pathare, Ayumi Kato, Masahiko Hara   +10 more
wiley   +1 more source