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Pediatric genetics

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https://www.readbyqxmd.com/read/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#1
Horacio Márquez-González, Diana López-Gallegos, Nataly Alejandra Pérez-Velázquez, Lucelli Yáñez-Gutiérrez
BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28212370/the-evolution-of-allogeneic-stem-cell-transplant-for-children-and-adolescents-with-acute-myeloid-leukemia
#2
Allyson Flower, Mitchell S Cairo
Survival rates in subsets of pediatric patients who have acute myeloid leukemia (AML) with favorable risk features are now greater than 90%. However, outcomes for patients with high-risk (HR) features remain unacceptably poor. As novel technologies for the identification of HR biomarkers and the detection of residual disease are developed, risk stratification and the application of allogeneic hematopoietic stem cell transplant (HSCT) are evolving. HSCT has been shown to benefit subpopulations of pediatric patients with AML, including those with HR cytogenetic translocations, genetic mutations, and/or residual disease after induction...
January 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/28208686/identification-of-autophagy-related-genes-and-their-regulatory-mirnas-associated-with-celiac-disease-in-children
#3
Sergio Comincini, Federico Manai, Cristina Meazza, Sara Pagani, Carolina Martinelli, Noemi Pasqua, Gloria Pelizzo, Marco Biggiogera, Mauro Bozzola
Celiac disease (CD) is a severe genetic autoimmune disorder, affecting about one in 100 people, where the ingestion of gluten leads to damage in the small intestine. Diagnosing CD is quite complex and requires blood tests and intestinal biopsy examinations. Controversy exists regarding making the diagnosis without biopsy, due to the large spectrum of manifesting symptoms; furthermore, small-intestinal gastroscopy examinations have a relatively complex management in the pediatric population. To identify novel molecular markers useful to increase the sensitivity and specificity in the diagnosis of pediatric CD patients, the expression levels of two key autophagy executor genes (ATG7 and BECN1) and their regulatory validated miRNAs (miR-17 and miR-30a, respectively) were analyzed by relative quantitative real-time-PCR on a cohort of confirmed CD patients compared to age-related controls...
February 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28207544/tser-polymorphism-is-not-associated-with-risk-of-pediatric-acute-lymphoblastic-leukemia-a-meta-analysis
#4
Zhaohua Qiao, Dan Lou, Li Ruan
BACKGROUND: Accumulating studies have explored the effect of thymidylate synthase enhancer region (TSER) variation on risk of pediatric acute lymphoblastic leukemia (ALL) with controversial results. Therefore, this quantitative meta-analysis was performed to assess synthetically the association of TSER variation with susceptibility to develop pediatric ALL. METHODS: The PubMed, ScienceDirect, Google Scholar, Wanfang Database, and China National Knowledge Infrastructure were systematically retrieved to obtain the published case-control studies about the relationship between TSER variation and pediatric ALL risk...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28204945/spectrum-of-mutations-in-chinese-children-with-steroid-resistant-nephrotic-syndrome
#5
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt
BACKGROUND: The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity. METHODS: Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48...
February 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28202832/-prognostic-impact-of-radiation-therapy-and-molecular-classification-of-infant-atypical-teratoid-rhabdoid-tumors
#6
Yoshihiro Otani, Tomotsugu Ichikawa, Kazuhiko Kurozumi, Takao Yasuhara, Kana Washio, Akira Shimada, Norihisa Katayama, Kuniaki Katsui, Hiroyuki Yanai, Isao Date
Atypical teratoid/rhabdoid tumor(AT/RT)is a rare and lethal childhood cancer. Although radiation therapy in children less than three years of age is generally deferred because of its neural toxicity, recent studies have shown that multimodal therapies, including radiation therapy, are effective in pediatric patients with AT/RT less than three years of age. We treated four infant AT/RT patients and investigated the impact of radiation therapy and genetic classification on the prognosis. The mean age at the time of the operation was 9...
February 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28193567/genomic-analysis-of-adult-b-all-identifies-potential-markers-of-shorter-survival
#7
Shiven Patel, Clinton C Mason, Martha J Glenn, Christian N Paxton, Sara T South, Melissa H Cessna, Julie Asch, Erin F Cobain, Dale L Bixby, Lauren B Smith, Shalini Reshmi, Julie M Gastier-Foster, Joshua D Schiffman, Rodney R Miles
B lymphoblastic leukemia (B-ALL) in adults has a higher risk of relapse and lower long-term survival than pediatric B-ALL, but data regarding genetic prognostic biomarkers are much more limited for adult patients. We identified 70 adult B-ALL patients from three institutions and performed genome-wide analysis via single nucleotide polymorphism (SNP) arrays on DNA isolated from their initial diagnostic sample and, when available, relapse bone marrow specimens to identify recurring copy number alterations (CNA)...
February 3, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28192596/integrating-next-generation-sequencing-into-pediatric-oncology-practice-an-assessment-of-physician-confidence-and-understanding-of-clinical-genomics
#8
Liza-Marie Johnson, Jessica M Valdez, Emily A Quinn, April D Sykes, Rose B McGee, Regina Nuccio, Stacy J Hines-Dowell, Justin N Baker, Chimene Kesserwan, Kim E Nichols, Belinda N Mandrell
BACKGROUND: The incorporation of genomic testing to identify targetable somatic alterations and predisposing germline mutations into the clinical setting is becoming increasingly more common. Despite its potential usefulness, to the authors' knowledge physician confidence with regard to understanding and applying genomic testing remains unclear, particularly within the realm of pediatric oncology. METHODS: Before initiating an institutional feasibility study regarding the integration of clinical genomic testing, the authors surveyed pediatric oncologists regarding their confidence around understanding of genomic testing, perceived usefulness of test results, preferences around the disclosure of germline test results, and possible risks and benefits of testing...
February 13, 2017: Cancer
https://www.readbyqxmd.com/read/28187778/whole-body-mri-in-pediatric-patients-with-cancer
#9
REVIEW
Marcos Duarte Guimarães, Julia Noschang, Sara Reis Teixeira, Marcel Koenigkam Santos, Henrique Manoel Lederman, Vivian Tostes, Vikas Kundra, Alex Dias Oliveira, Bruno Hochhegger, Edson Marchiori
Cancer is the leading cause of natural death in the pediatric populations of developed countries, yet cure rates are greater than 70% when a cancer is diagnosed in its early stages. Recent advances in magnetic resonance imaging methods have markedly improved diagnostic and therapeutic approaches, while avoiding the risks of ionizing radiation that are associated with most conventional radiological methods, such as computed tomography and positron emission tomography/computed tomography. The advent of whole-body magnetic resonance imaging in association with the development of metabolic- and function-based techniques has led to the use of whole-body magnetic resonance imaging for the screening, diagnosis, staging, response assessment, and post-therapeutic follow-up of children with solid sporadic tumours or those with related genetic syndromes...
February 10, 2017: Cancer Imaging: the Official Publication of the International Cancer Imaging Society
https://www.readbyqxmd.com/read/28187060/risk-factors-in-children-older-than-5-years-with-pneumococcal-meningitis-data-from-a-national-network
#10
Fanny Hénaff, Corinne Levy, Robert Cohen, Capucine Picard, Emmanuelle Varon, Christèle Gras Le Guen, Elise Launay
INTRODUCTION: The occurrence of meningitis in children > 5 years old may be associated with specific predisposing factors that can be anatomic, such as cerebrospinal fluid (CSF) fistula or breach, or related to genetic susceptibility or N inborn or acquired immunologic defect. This study aimed to assess the anatomical and immunologic risk factors in children > 5 years old with pneumococcal meningitis and prospectively enrolled in the French national meningitis network. METHODS: We analyzed all data for children 5 to 15 years old with a diagnosis of pneumococcal meningitis between 2001 and 2013...
December 13, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28186446/de-novo-avm-formation-following-venous-sinus-thrombosis-and-prior-avm-resection-in-adults-report-of-2-cases
#11
Siyu Shi, Raghav Gupta, Justin M Moore, Christoph J Griessenauer, Nimer Adeeb, Rouzbeh Motiei-Langroudi, Ajith J Thomas, Christopher S Ogilvy
Brain arteriovenous malformations (AVMs) are traditionally considered congenital lesions, arising from aberrant vascular development during the intrauterine period. Rarely, however, AVMs develop in the postnatal period. Individual case reports of de novo AVM formation in both pediatric and adult patients have challenged the traditional dogma of a congenital origin. Instead, for these cases, a dynamic picture is emerging of AVM growth and development, initially triggered by ischemic and/or traumatic events, coupled with genetic predispositions...
February 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#12
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28183324/identification-of-taz-mutations-in-pediatric-patients-with-cardiomyopathy-by-targeted-next-generation-sequencing-in-a-chinese-cohort
#13
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28183295/meta-analysis-of-gene-expression-in-relapsed-childhood-b-acute-lymphoblastic-leukemia
#14
Yock-Ping Chow, Hamidah Alias, Rahman Jamal
BACKGROUND: Relapsed pediatric B-acute lymphoblastic leukemia (B-ALL) remains as the leading cause of cancer death among children. Other than stem cell transplantation and intensified chemotherapy, no other improved treatment strategies have been approved clinically. Gene expression profiling represents a powerful approach to identify potential biomarkers and new therapeutic targets for various diseases including leukemias. However, inadequate sample size in many individual experiments has failed to provide adequate study power to yield translatable findings...
February 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28181694/a-genome-wide-association-study-identifies-two-sex-specific-loci-at-sptb-and-izumo3-influencing-pediatric-bone-mineral-density-at-multiple-skeletal-sites
#15
Alessandra Chesi, Jonathan A Mitchell, Heidi J Kalkwarf, Jonathan P Bradfield, Joan M Lappe, Diana L Cousminer, Sani M Roy, Shana E McCormack, Vicente Gilsanz, Sharon E Oberfield, Hakon Hakonarson, John A Shepherd, Andrea Kelly, Babette S Zemel, Struan F A Grant
Failure to achieve optimal bone mineral accretion during childhood and adolescence results in subsequent suboptimal peak bone mass, contributing to osteoporosis risk later in life. To identify novel genetic factors that influence pediatric bone mass at discrete skeletal sites, we performed a sex-stratified genome-wide association study of areal bone mineral density (BMD) measured by dual energy X-ray absorptiometry at the 1/3 distal radius, spine, total hip and femoral neck in a cohort of 933 healthy European American children...
February 9, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28180025/constitutional-epi-genetic-conditions-genetic-epigenetic-and-environmental-factors
#16
REVIEW
Laila C Schenkel, David Rodenhiser, Victoria Siu, Elizabeth McCready, Peter Ainsworth, Bekim Sadikovic
There are more than 4,000 phenotypes for which the molecular basis is at least partly known. Though defects in primary DNA structure constitute a major cause of these disorders, epigenetic disruption is emerging as an important alternative mechanism in the etiology of a broad range of congenital and developmental conditions. These include epigenetic defects caused by either localized (in cis) genetic alterations or more distant (in trans) genetic events but can also include environmental effects. Emerging evidence suggests interplay between genetic and environmental factors in the epigenetic etiology of several constitutional "epi/genetic" conditions...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#17
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28178439/juvenile-idiopathic-arthritis-in-the-era-of-international-cooperation
#18
REVIEW
Yosef Uziel
Juvenile idiopathic arthritis (JIA) is the most common chronic disease of childhood. Improved understanding of its pathogenesis has led to international cooperation in clinical studies. Multicenter, international collaborations and research facilitate rapid enrollment of enough patients to enable a variety of studies, including those of epidemiology, diagnostic and classification criteria, genetic disease predisposition, pathogenesis, outcomes, and treatment protocols. In the last 20 years, the vision of the Pediatric Rheumatology International Trial Organization (PRINTO) has become a reality of worldwide collaboration in pediatric rheumatology research, including North American and European research groups...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28177962/pediatric-cystic-nephroma-is-morphologically-immunohistochemically-and-genetically-distinct-from-adult-cystic-nephroma
#19
Yunjie Li, Bruce R Pawel, Dana A Hill, Jonathan I Epstein, Pedram Argani
The term cystic nephroma has traditionally been used to refer to 2 neoplasms, a lesion in adults that is now thought to be part of the spectrum of mixed epithelial stromal tumor (MEST) and a pediatric lesion that has been associated with mutations in the DICER1 gene. A direct detailed morphologic, immunohistochemical, and genetic comparison of these 2 lesions has not been performed. In this study, we compare the morphologic features, immunoreactivity for estrogen receptor and inhibin, and DICER1 genetic status of 12 adult cystic nephroma/MEST (median age 50...
February 7, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28177849/the-clinical-evaluation-of-infantile-nystagmus-what-to-do-first-and-why
#20
Morgan Bertsch, Michael Floyd, Taylor Kehoe, Wanda Pfeifer, Arlene V Drack
INTRODUCTION: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. METHODS: Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. DATA COLLECTED: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing...
January 2017: Ophthalmic Genetics
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