Results 31 to 40 of about 4,116,168 (218)

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations

Genetics Research
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang, Yali Zhao, Shuting Yang, Yongan Wang, Leilei Wang   +4 more
doaj   +1 more source

A case of placental trisomy 18 mosaicism causing a false negative NIPT result

Molecular Cytogenetics, 2017
Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, Aihua Yin   +7 more
doaj   +1 more source

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Human Genomics, 2019
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du, Aihua Yin   +7 more
doaj   +1 more source

Provider and Parent Perspectives on Prioritizing the “Asking and Monitoring” Pediatric Cancer Psychosocial Standards of Care

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Standards for Psychosocial Care for Children with Cancer and Their Families (“Standards”) are evidence‐based guidelines for psychosocial care in pediatric oncology. Care related to the three “Asking and Monitoring” Standards—Assessment of Psychosocial Needs, Assessment of Financial Needs, and Monitoring Neurocognitive Problems ...
Julia B. Tager, Natalie Koskela‐Staples, Emily M. Pariseau, Michele Scialla, Kimberly Buff, Lori Wiener, Victoria Sardi Brown, Anne E. Kazak, Kimberly S. Canter   +8 more
wiley   +1 more source

Safety and Effectiveness of a High‐Dose, Tailored Tissue Plasminogen Activator Therapy Protocol: A Joint Pediatric Hematology and Cardiac ICU Quality Improvement Initiative Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric thromboembolism is increasingly encountered in critical care. Systemic thrombolysis with tissue plasminogen activator (tPA) facilitates vessel or valve patency, yet pediatric‐specific protocols remain undefined, and safety concerns persist. Objective To evaluate the efficacy and safety of a tailored, prolonged systemic tPA
Eran Shostak, Oded Gilad, Yael Feinstein, Sigal Nakav, Ofer Schiller, Joanne Yacobovich   +5 more
wiley   +1 more source

Global Efforts to Reduce Paediatric Cancer Care Disparities in Radiotherapy: A Decade Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We present an update on the status, needs and challenges faced by paediatric imaging and radiotherapy (RT) programmes globally after a previous survey conducted by the International Atomic Energy Agency (IAEA) 10 years prior. Methods We developed and distributed a 121‐question survey to radiation oncologists, medical physicists and ...
Raymond B. Mailhot Vega, Daniel J. Indelicato, Jeanette Parkes, Natia Esiashvili, Josué Hernández Benítez, Miriam Mikhail‐Lette, Olivera Cirajc Bjelac, Daniel Berger, Eva Ciurana, Yavuz Anacak, Lisbeth Cordero‐Mendez   +10 more
wiley   +1 more source

Characteristics and outcomes of diffuse non-midline gliomas with H3F3A gene mutation in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort study

Acta Neuropathologica Communications
Diffuse gliomas with H3F3A gene mutation such as H3.3 K27M and G34R/V are infrequently found in the cerebral hemisphere. These tumors may be called histone H3 K27M-mutant diffuse non-midline gliomas (NDMG) or H3 G34-mutant diffuse hemispheric gliomas ...
Hirokazu Nakatogawa, Junya Fukai, Hiroshi Kawaji, Nobuhide Hayashi, Ema Yoshioka, Yoshinori Kodama, Kosuke Nakajo, Takehiro Uda, Yoshiki Arakawa, Shigeki Takada, Noriyuki Kijima, Kenichi Ishibashi, Takeshi Okuda, Yukihiko Sonoda, Shiro Ohue, Hideyuki Arita, Masahide Matsuda, Tadateru Fukami, Takahiro Tomita, Akihiro Inoue, Takamune Achiha, Hideki Kashiwagi, Daisuke Kanematsu, Asako Katsuma, Miho Sumida, Tomoko Shofuda, Masayuki Mano, Manabu Kinoshita, Kanji Mori, Chikanori Inenaga, Yonehiro Kanemura   +30 more
doaj   +1 more source

Prenatal diagnosis of a rare β‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α4.2)

Molecular Genetics & Genomic Medicine, 2020
Background Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare β ...
Hou Qian, Jianlin Huang, Ji Xu, Weihua Zhao, Xiufeng Ye, Wenlan Liu   +5 more
doaj   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source