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Pediatric genetics

Mariella G Filbin, Dominik Sturm
Gliomas are the most common primary central nervous system (CNS) neoplasms in children and adolescents and are thought to arise from their glial progenitors or stem cells. Although the exact cells of origin for most pediatric gliomas remain to be identified, our current understanding is that specific cell populations during CNS development are susceptible to particular oncogenic events during certain time windows and thus give rise to pediatric gliomas with distinct histological, molecular, and clinical features...
February 2018: Seminars in Neurology
Alexandra Colvin, Amanda F Saltzman, Jonathan Walker, Jennifer Bruny, Nicholas G Cost
Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis...
March 12, 2018: Urology
Mio Noma, Muneaki Matsubara, Chiho Tokunaga, Tomomi Nakajima, Bryan James Mathis, Hiroaki Sakamoto, Yuji Hiramatsu
BACKGROUND: Although pulmonary artery banding (PAB) is a common palliative procedure for pediatric heart malformation, there are concerns of pressure overload and concomitant immune reactions in the right ventricle causing postsurgical complications such as pericardial effusion. At this time, no clear guidelines as to potential risk factors or procedural contraindications have been widely disseminated. Therefore, a study was undertaken to examine wide-ranging factors to find potential biomarkers for postsurgical pericardial effusion formation risk...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Diana Olvera, Rachel Stolzenfeld, Joan C Marini, Michelle S Caird, Kenneth M Kozloff
Osteogenesis imperfecta (OI) is a genetic disorder characterized by altered bone quality and imbalanced bone remodeling, leading to skeletal fractures which are most prominent during childhood. Treatments for OI have focused on restoring pediatric bone density and architecture to recover functional strength and consequently reduce fragility. Though antiresorptive agents like bisphosphonates (BP) are currently the most common intervention for the treatment of OI, a number of studies have shown efficacy of sclerostin antibody (SclAb) in inducing gains in bone mass and reducing fragility in OI mouse models...
March 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Paula Marrano, Mary Shago, Gino R Somers, Paul S Thorner
Osteogenic sarcoma (OS) is the most common malignant bone tumor in children and adolescents. Despite advances in molecular genetic characterization of pediatric and adult tumors, the diagnosis of OS still depends almost entirely on light microscopy. The lack of consistent genetic changes in OS has greatly hindered the development of any diagnostic molecular test. Recently, whole-genome sequencing has shown that ~50% of cases of OS have a translocation involving the TP53 gene with breakpoints confined to the first intron...
March 14, 2018: American Journal of Surgical Pathology
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, Clara L Gaff, Susan M White
PurposeThe purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.MethodsRapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.ResultsOf 40 enrolled patients, 21 (52...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz
Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma...
January 9, 2018: Curēus
Sarah E Kohe, Christopher D Bennett, Simrandip K Gill, Martin Wilson, Carmel McConville, Andrew C Peet
The rare pediatric embryonal tumors retinoblastoma, medulloblastoma and neuroblastoma derive from neuroectodermal tissue and share similar histopathological features despite different anatomical locations and diverse clinical outcomes. As metabolism can reflect genetic and histological features, we investigated whether the metabolism of embryonal tumors reflects their similar histology, shared developmental and neural origins, or tumor location. We undertook metabolic profiling on 50 retinoblastoma, 39 medulloblastoma and 70 neuroblastoma using high resolution magic angle spinning magnetic resonance spectroscopy (1H-MRS)...
February 16, 2018: Oncotarget
Xiangpeng Chen, Baoping Xu, Jiayun Guo, Changchong Li, Shuhua An, Yunlian Zhou, Aihuan Chen, Li Deng, Zhou Fu, Yun Zhu, Chunyan Liu, Lili Xu, Wei Wang, Kunling Shen, Zhengde Xie
To identify the variations in fusion (F) protein gene of RSV in China, a molecular epidemiological study was conducted. A total of 553 RSV positive specimens were collected from 2338 pediatric patients hospitalized with community-acquired pneumonia during a multi-center study conducted during 2014-2016. A total of 252 samples (183 RSV A, 69 RSV B) were selected for F gene sequencing, and analyzed together with 142 F gene sequences downloaded from GenBank. The result showed that all the Chinese RSV A and RSV B strains could be divided respectively into three branches...
March 14, 2018: Scientific Reports
Genki Yamato, Norio Shiba, Kenichi Yoshida, Yusuke Hara, Yuichi Shiraishi, Kentaro Ohki, Jun Okubo, Myoung-Ja Park, Manabu Sotomatsu, Hirokazu Arakawa, Nobutaka Kiyokawa, Daisuke Tomizawa, Souichi Adachi, Takashi Taga, Keizo Horibe, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi
No abstract text is available yet for this article.
March 14, 2018: Blood
Adam H Lewis, Ankur Chugh, Sarah A Sobotka
A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT...
March 1, 2018: Pediatric Annals
Tamas Jilling, Namasivayam Ambalavanan, C Michael Cotten, Colin A Martin, Akhil Maheshwari, Kurt Schibler, Joshua Levy, Grier P Page
BACKGROUND: Twin studies suggest that genetic factors may account for up to 50% increased risk for necrotizing enterocolitis (NEC), but genome-wide association studies (GWAS) for NEC are lacking. METHODS: Genotyping was done on Illumina BeadChip, followed by analysis using PLINK with logistic regression under an additive model. RESULTS: Among 751 extremely low birth weight (<1000 g, >401 g) neonates, 30 had surgical NEC. 261 single nucleotide polymorphisms (SNPs) showed association with NEC at P<0...
March 14, 2018: Pediatric Research
Vo Truong Nhu Ngoc, Trinh Do Van Nga, Dinh-Toi Chu, Le Quynh Anh
Hemophilia-a bleeding disorder due to the lack of clotting factors-is mostly induced by genetic factors. Its most common type is hemophilia A. Hemorrhage in hemophilia A may occur in several different sites of the body, including those inside the oral cavity, such as mucous membrane and gum. However, only a few studies and case reports on dental issues of hemophilia A patients have been conducted. In clinical dentistry, treatment procedures are invasive, possibly leading to more severe bleeding, especially in hemophilia A cases...
March 14, 2018: Special Care in Dentistry
Ruben Jauregui, Galaxy Y Cho, Vitor K L Takahashi, Julia T Takiuti, Alexander G Bassuk, Vinit B Mahajan, Stephen H Tsang
Inherited retinal diseases (IRDs) are a major cause of incurable familial blindness in the Western world. In the pediatric population, IRDs are a major contributor to the 19 million children worldwide with visual impairment. Unfortunately, the road to the correct diagnosis is often complicated in the pediatric population, as typical diagnostic tools such as fundus examination, electrodiagnostic studies, and other imaging modalities may be difficult to perform in the pediatric patient. In this review, we describe the most significant IRDs with onset during the pediatric years (ie, before the age of 18)...
March 14, 2018: Asia-Pacific Journal of Ophthalmology
Heng Xu, Yang Shu
Treatment outcomes for acute lymphoblastic leukemia (ALL), especially pediatric ALL, have greatly improved due to the risk-adapted therapy. Combination of drug development, clinical practice, as well as basic genetic researches has brought the survival rate of ALL from less than 10% to more than 90% today, not only increasing the treatment efficacy but also limiting adverse drug reactions (ADRs). In this review, we summarized the landscape identification of ALL genetic alterations, which provided the opportunity to increase the survival rate and especially minimize the relapse risk of ALL, and highlighted the importance of the development of new technologies of genomic investigation for translational medicine...
2018: Methods in Molecular Biology
Wen Lin, Deqiang Li
Ventricular myocardial development is a well-orchestrated process involving different cardiac structures, multiple signal pathways, and myriad proteins. Dysregulation of this important developmental event can result in cardiomyopathies, such as left ventricle non-compaction, which affect the pediatric population and the adults. Human and mouse studies have shed light upon the etiology of some cardiomyopathy cases and highlighted the contribution of both genetic and environmental factors. However, the regulation of ventricular myocardial development remains incompletely understood...
March 13, 2018: Pediatric Cardiology
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
Michael D Kappelman, Aksel Lange, Rachel L Randell, Patricia V Basta, Robert S Sandler, Kristina Laugesen, Anna Byrjalsen, Tina Christensen, Trine Frøslev, Rune Erichsen
Background: Epidemiologic studies combining exposure and outcome data with the collection of biosamples are needed to study gene-environment interactions that might contribute to the etiology of complex diseases such as pediatric Crohn's disease (CD). Nationwide registries, including those in Denmark and other Scandinavian countries, provide efficient and reliable sources of data for epidemiological studies evaluating the environmental determinants of disease. We performed a pilot study to test the feasibility of collecting salivary DNA to augment registry data in established cases of pediatric CD and randomly selected, population-based controls...
2018: Clinical Epidemiology
Daniela A Braun, Jillian K Warejko, Shazia Ashraf, Weizhen Tan, Ankana Daga, Ronen Schneider, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Makiko Nakayama, David Schapiro, Jia Rao, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Hannah Hugo, Sevcan A Bakkaloglu, Jameela A Kari, Sherif El Desoky, Ghaleb Daouk, Shrikant Mane, Richard P Lifton, Shirlee Shril, Friedhelm Hildebrandt
Background: Nephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, ∼15% of childhood-onset cases do not respond to steroid therapy and are classified as steroid-resistant NS (SRNS). In ∼30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes laminin-α5, an essential component of the glomerular basement membrane. Mice with a hypomorphic mutation in the orthologous gene Lama5 develop proteinuria and hematuria...
March 9, 2018: Nephrology, Dialysis, Transplantation
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