Results 51 to 60 of about 427,618 (269)

Exploring Preferences for a Digital Single‐Session Intervention for Adolescent Siblings of Youth With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Adolescent siblings of children with cancer are at elevated risk for psychosocial problems. Unfortunately, various barriers such as limited family time and resources, conflicting schedules, and psychosocial staffing constraints at cancer centers hinder sibling access to support.
Christina M. Amaro, Sarah Silver, Prishi Patel, Meredith K. Reffner Collins, Kimberly S. Canter, Stephanie Fooks‐Parker, Michael Amylon, Shawna V. Hudson, Jessica L. Schleider, Melissa A. Alderfer, Katie A. Devine   +10 more
wiley   +1 more source

Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study

Frontiers in Genetics, 2022
Background:PAX2 is a nuclear transcription factor gene that is highly conserved among species. Variants within PAX2 could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about
Hua-Ying Xiong, Hua-Ying Xiong, Yong-Qi Shi, Yong-Qi Shi, Cheng Zhong, Cheng Zhong, Qin Yang, Qin Yang, Gaofu Zhang, Gaofu Zhang, Haiping Yang, Haiping Yang, Daoqi Wu, Daoqi Wu, Yaxi Chen, Qiu Li, Qiu Li, Mo Wang, Mo Wang   +18 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome

Molecular Genetics & Genomic Medicine
Background Marfan syndrome (MFS) is a complex genetic systemic connective tissue disorder. It is well known that genetic factors play a critical role in the progression of MFS, with nearly all cases attributed to variants in the FBN1 gene.
Djouhayna Dougarem, Yi‐Xiao Chen, Yi‐Na Sun, He‐Feng Huang, Qiong Luo   +4 more
doaj   +1 more source

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

Frontiers in Neurology, 2022
Background and PurposeInfantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical phenotypes of neurodegeneration.
Yongyi Zou, Haiyan Luo, Huizhen Yuan, Kang Xie, Yan Yang, Shuhui Huang, Bicheng Yang, Yanqiu Liu   +7 more
doaj   +1 more source

Efficacy and Tolerability of Topotecan/Cyclophosphamide/Dinutuximab in Relapsed and Refractory High‐Risk Neuroblastoma: A Multi‐Institutional Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Chemoimmunotherapy with irinotecan, temozolomide, and dinutuximab (I/T/DIN) has emerged as first‐line therapy for relapsed/refractory (r/r) high‐risk neuroblastoma (HRNB) in North America. Topotecan and cyclophosphamide (T/C) are often used in combination with dinutuximab in the setting of lack of response, progression, or incomplete ...
Benjamin J. Lerman, Madeleine King, Rajen Mody, Sara‐Jane Onyeama, Araz Marachelian, Thomas Cash, Sara M. Federico, Meaghan Granger, Ami V. Desai, Suzanne Shusterman, Jennifer H. Foster, Elizabeth Sokol, Chelsee Greer, Keri Streby, Holly J. Meany, Kieuhoa T. Vo, Margaret E. Macy, Rochelle Bagatell   +17 more
wiley   +1 more source

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

Frontiers in Endocrinology
Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function ...
Ayano Onishi, Yoshinari Obata, Tomoaki Hayakawa, Makoto Fujiwara, Yasuhisa Ohata, Yuri Tamura, Satoshi Kawata, Kosuke Mukai, Kazuyuki Miyashita, Kenichi Yamamoto, Kenichi Yamamoto, Kenichi Yamamoto, Takuo Kubota, Atsunori Fukuhara, Atsunori Fukuhara, Iichiro Shimomura   +15 more
doaj   +1 more source

Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant

Frontiers in Pediatrics, 2021
Nodular lymphoid hyperplasia (NLH) is a lymphoproliferative disease caused by non-clonal expansion of lymphoid cells in the gut mucosa. Little is known about the pathogenesis of NLH, which is often disregarded as an insignificant or para-physiologic ...
Antonio Marzollo, Antonio Marzollo, Silvia Bresolin, Silvia Bresolin, Davide Colavito, Alice Cani, Paola Gaio, Luca Bosa, Claudia Mescoli, Linda Rossini, Federica Barzaghi, Giorgio Perilongo, Alberta Leon, Alessandra Biffi, Mara Cananzi   +14 more
doaj   +1 more source

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy, Elizabeth L. Seashore, W. Susan Cheng, Shondra Clay, Jessica A. Casas, Jennifer H. Foster   +5 more
wiley   +1 more source

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source