Results 41 to 50 of about 427,618 (269)

Stressful Events Reported by Childhood Cancer Survivors and Community Controls From the St. Jude Lifetime (SJLIFE) Cohort: A Mixed Method Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Characterizing stressful events reported by childhood cancer survivors experienced throughout the lifespan may help improve trauma‐informed care relevant to the survivor experience. Methods Participants included 2552 survivors (54% female; 34 years of age) and 469 community controls (62% female; 33 years of age) from the St.
Megan E. Ware, Colter K. Clayton, Fang Wang, Sedigheh Mirzaei, Kyla Shelton, Tara M. Brinkman, Victoria Willard, Katianne M. Howard Sharp, Kevin Krull, Lindsay F. Schwartz, Melissa M. Hudson, Gregory T. Armstrong, Kirsten K. Ness, Rachel T. Webster   +13 more
wiley   +1 more source

Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency

Frontiers in Pediatrics, 2023
BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis.Case presentationWe report ...
Kena Wang, Biao Zou, Fan Chen, Jianling Zhang, Zhihua Huang, Sainan Shu   +5 more
doaj   +1 more source

Unheard and Under‐Supported: Health‐Related Quality of Life in Children, Adolescents, and Young Adults With Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
Abstract Background Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy affecting millions of individuals worldwide. The clinical expression and psychosocial burden of SCD vary widely across geographical, cultural, and healthcare system contexts, underscoring the need for setting‐specific approaches to assessment.
Desiré Fantasia, Giulia Reggiani, Elizabeth J. Maran, Maria Elisa Delle Fave, Ilaria Baido, Anna Chiara Frigo, Maria Paola Boaro, Raffaella Colombatti   +7 more
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

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7

Frontiers in Genetics, 2023
Background and purpose: Intellectual disability-7 (MRD7) is a subtype disorder of intellectual disability (MRD) involving feeding difficulties, hypoactivity, and febrile seizures at an age of early onset, then progressive intellectual and physical ...
Cheng Huang, Haiyan Luo, Baitao Zeng, Chuanxin Feng, Jia Chen, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu   +9 more
doaj   +1 more source

Imaging of High‐Risk Neuroblastoma: Recommendations From SIOPEN Radiology and Nuclear Medicine Specialty Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neuroblastoma is the most common extracranial solid tumor in early childhood. Its clinical behavior is highly variable, ranging from spontaneous regression to fatal outcome despite intensive treatment. The International Society of Pediatric Oncology Europe Neuroblastoma Group (SIOPEN) Radiology and Nuclear Medicine Specialty Committees ...
Annemieke Littooij, Catia Olianti, Herve Brisse, Pier Luigi Di Paolo, Maria Garganese, Tejas Kapadia, Jurgen Schaefer, Hugh Wallace, Simon Wan, Bart de Keizer, Irmina Sefic Pasic, Julian Rogasch   +11 more
wiley   +1 more source

Clinical and Genetic Analysis of a Patient with CMT4J

Neurology International, 2022
We report the clinical and genetic analysis of a patient with a rare form of an autosomal recessive genetic neuropathy, Charcot Marie Tooth (CMT) disease type 4J.
Leema Reddy Peddareddygari, Raji P. Grewal   +1 more
doaj   +1 more source

Results of the Childhood Cancer and Leukaemia Group's United Kingdom Relapsed Wilms Tumour Trial

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The United Kingdom relapsed Wilms tumour (UKW‐R) trial aimed to improve the historically low survival rates after relapse of Wilms tumour (WT) through a prospective national risk‐stratified protocol. The trial also evaluated efficacy and toxicity of high‐dose melphalan.
Sucheta J. Vaidya, Veronica Moroz, Juliet Hale, Vesna Pavasovic, Rachel Hobson, Patricia Sartori, Daniel Saunders, Mark Powis, Gordan M. Vujanic, Stephen Baker, Kathy Pritchard‐Jones   +10 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

Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest

Frontiers in Genetics, 2022
Background: This study aims to describe clinical and diagnostic phenotype and identify pathogenic variants of a female with unknown causes of infertility.Methods: Clinical assessment was performed for the phenotype diagnosis. Whole-exome sequencing (WES)
Liwei Sun, Liwei Sun, Keya Tong, Keya Tong, Weiwei Liu, Weiwei Liu, Yin Tian, Yin Tian, Sheng Yang, Sheng Yang, Danni Zhou, Danni Zhou, Dongyun Liu, Dongyun Liu, Guoning Huang, Guoning Huang, Jingyu Li, Jingyu Li   +17 more
doaj   +1 more source