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Pediatric genetics

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https://www.readbyqxmd.com/read/29148915/the-frequency-of-mutations-in-quinolone-resistance-determining-regions-and-plasmid-mediated-quinolone-resistance-in-shigella-isolates-recovered-from-pediatric-patients-in-tehran-iran-an-overlooked-problem
#1
Sajad Yaghoubi, Reza Ranjbar, Mohammad Mehdi Soltan Dallal, Mohammad Hasan Shirazi, Mohammad Kazem Sharifi-Yazdi
Fluoroquinolone (FQ) resistance in clinical isolates of Shigella species has been increasing reported in recent years. This study was carried out to find the mutations within the quinolone resistance-determining regions (QRDRs) and the prevalence of plasmid-mediated quinolone resistance (PMQR) determinants among the clinical isolates of Shigella sp. in Tehran, Iran. A total of 50 Shigella isolates were collected from five teaching therapeutic centers in Tehran, Iran and analyzed for antibiotic susceptibility over a period of 20 months from July 2015 to January 2017...
November 17, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/29141802/examining-the-contributions-of-environmental-quality-to-pediatric-multiple-sclerosis
#2
Amy M Lavery, Amy T Waldman, T Charles Casper, Shelly Roalstad, Meghan Candee, John Rose, Anita Belman, Bianca Weinstock-Guttman, Greg Aaen, Jan-Mendelt Tillema, Moses Rodriguez, Jayne Ness, Yolanda Harris, Jennifer Graves, Lauren Krupp, Leslie Benson, Mark Gorman, Manikum Moodley, Mary Rensel, Manu Goyal, Soe Mar, Tanuja Chitnis, Teri Schreiner, Tim Lotze, Benjamin Greenberg, Ilana Kahn, Jennifer Rubin, Emmanuelle Waubant
BACKGROUND: Multiple sclerosis (MS) is a presumed autoimmune disease caused by genetic and environmental factors. It is hypothesized that environmental exposures (such as air and water quality) trigger the innate immune response thereby activating a pro-inflammatory cascade. OBJECTIVE: To examine potential environmental factors in pediatric MS using geographic information systems (GIS). METHODS: Pediatric MS cases and healthy controls were identified as part of an ongoing multicenter case-control study...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#3
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#4
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#5
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29140942/minority-pediatric-patients-with-inflammatory-bowel-disease-demonstrate-an-increased-length-of-stay
#6
Edward L Barnes, Bharati Kochar, Millie D Long, Christopher F Martin, Michael D Kappelman
BACKGROUND: Genetic and other biological factors may lead to differences in disease behavior among children with inflammatory bowel disease of different races, which may be further modified by disparities in care delivery. Using the Kids' Inpatient Database, we aimed to evaluate differences in the management of pediatric patients with inflammatory bowel disease by race, focusing on length of stay (LOS). METHODS: We performed a cross-sectional analysis using 2000 to 2012 data from the Kids' Inpatient Database, a nationally representative database...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#7
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29135578/when-prevention-of-mother-to-child-hiv-transmission-fails-preventing-pretreatment-drug-resistance-in-african-children
#8
Seth C Inzaule, Raph L Hamers, Job Calis, Ragna Boerma, Kim Sigaloff, Clement Zeh, Peter Mugyenyi, Sulaimon Akanmu, Tobias F Rinke de Wit
: The scale-up of antiretroviral prophylaxis to prevent mother-to-child transmission of HIV has significantly reduced new pediatric infections in sub-Saharan Africa. However, among infants who become HIV-infected despite prevent mother-to-child transmission, more than 50% have drug-resistant HIV. Given high levels of resistance, WHO recommends the use of protease inhibitors as part of first-line pediatric antiretroviral therapy (ART) to optimize treatment response, but costs and logistic challenges restrict access...
November 10, 2017: AIDS
https://www.readbyqxmd.com/read/29135293/-from-the-hallervorden-spatz-eponym-to-the-molecular-terminology
#9
Ferenc Garzuly
INTRODUCTION AND AIM: A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. The author analyze the reasons for this change. METHOD: Professional activities of Hallervorden and Spatz during and after the Nazi euthanasia program are presented. Also, the scientific efforts that led to the discovery of the genetic background of the disease and ultimately to its new name are highlighted...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29132164/mutational-spectrum-of-fanconi-anemia-associated-myeloid-neoplasms
#10
Mwe Mwe Chao, Kathrin Thomay, Gudrun Goehring, Marcin Wlodarski, Victor Pastor, Brigitte Schlegelberger, Detlev Schindler, Christian Peter Kratz, Charlotte Niemeyer
Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected...
November 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29131922/prenatal-and-postnatal-genetic-testing-why-how-and-when
#11
Joan M Stoler
There have been major advances in genetic testing especially over the last 10 years. We have advanced from looking at simple chromosomes under a microscope to more sophisticated analysis of the DNA makeup of chromosomes and from testing a single gene to sequencing almost all of our genetic material. Similarly, in the field of prenatal testing we have made great strides in screening and diagnostic testing in the hope of detecting significant abnormalities in the fetus while decreasing the risk to the pregnancy...
November 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29131920/congenital-hyperinsulinism
#12
Elena Minakova, Alison Chu
Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy. Evaluation of hypoglycemia in the illustrative case presented in this article led to genetic testing identifying recessive mutations in the potassium channel subunits of the beta-islet pancreatic cells. Potassium channel defects are often refractory to medical therapies, so near-total pancreatectomy is usually indicated; however, genetic mutations leading to metabolic dysregulation within the beta-islet pancreatic cells are usually responsive to medical therapy...
November 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29131700/integrated-risk-stratification-using-minimal-residual-disease-and-sentinel-genetic-alterations-in-pediatric-acute-lymphoblastic-leukemia
#13
Stephen P Hunger
No abstract text is available yet for this article.
November 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29131699/genotype-specific-minimal-residual-disease-interpretation-improves-stratification-in-pediatric-acute-lymphoblastic-leukemia
#14
David O'Connor, Amir Enshaei, Jack Bartram, Jeremy Hancock, Christine J Harrison, Rachael Hough, Sujith Samarasinghe, Claire Schwab, Ajay Vora, Rachel Wade, John Moppett, Anthony V Moorman, Nick Goulden
Purpose Minimal residual disease (MRD) and genetic abnormalities are important risk factors for outcome in acute lymphoblastic leukemia. Current risk algorithms dichotomize MRD data and do not assimilate genetics when assigning MRD risk, which reduces predictive accuracy. The aim of our study was to exploit the full power of MRD by examining it as a continuous variable and to integrate it with genetics. Patients and Methods We used a population-based cohort of 3,113 patients who were treated in UKALL2003, with a median follow-up of 7 years...
November 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29128061/the-genetics-of-pediatric-nonalcoholic-fatty-liver-disease
#15
REVIEW
Nidhi P Goyal, Jeffrey B Schwimmer
Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease in children. Severe fibrosis and cirrhosis are potential consequences of pediatric NAFLD and can occur within a few years of diagnosis. Observations suggest that genetics may be a strong modifying factor in the presentation, severity, and natural history of the disease. There is increasing interest in determining at-risk populations based on genetics in the hope of finding genotypes that correlate to NAFLD phenotype. Ultimately, the hope is to be able to tailor therapeutics to genetic predispositions and decrease disease morbidity in children with NAFLD...
February 2018: Clinics in Liver Disease
https://www.readbyqxmd.com/read/29125853/whole-genome-dna-methylation-characteristics-in-pediatric-precursor-b-cell-acute-lymphoblastic-leukemia-bcp-all
#16
Radosław Chaber, Artur Gurgul, Grażyna Wróbel, Olga Haus, Anna Tomoń, Jerzy Kowalczyk, Tomasz Szmatoła, Igor Jasielczuk, Blanka Rybka, Renata Ryczan-Krawczyk, Ewa Duszeńko, Sylwia Stąpor, Krzysztof Ciebiera, Sylwia Paszek, Natalia Potocka, Christopher J Arthur, Izabela Zawlik
In addition to genetic alterations, epigenetic abnormalities have been shown to underlie the pathogenesis of acute lymphoblastic leukemia (ALL)-the most common pediatric cancer. The purpose of this study was to characterize the whole genome DNA methylation profile in children with precursor B-cell ALL (BCP ALL) and to compare this profile with methylation observed in normal bone marrow samples. Additional efforts were made to correlate the observed methylation patterns with selected clinical features. We assessed DNA methylation from bone marrow samples obtained from 38 children with BCP ALL at the time of diagnosis along with 4 samples of normal bone marrow cells as controls using Infinium MethylationEPIC BeadChip Array...
2017: PloS One
https://www.readbyqxmd.com/read/29125655/25-hydroxyvitamin-d-autoantigenic-and-total-antibody-concentrations-results-from-a-danish-case-control-study-of-newly-diagnosed-patients-with-childhood-type-1-diabetes-and-their-healthy-siblings
#17
Steffen Ullitz Thorsen, Christian B Pipper, Jesper Johannesen, Henrik Bindesbøl Mortensen, Flemming Pociot, Jannet Svensson
BACKGROUND: B cells have recently entered the stage as an important accessory player in type 1 diabetes (T1D) etiopathogenesis. Experimental studies suggest regulatory functions of vitamin D on B cells. However, only a few human studies, with considerable methodological limitations, have been conducted within this field. OBJECTIVE: Our objective was to investigate if higher 25-hydroxyvitamin D (25(OH)D) concentrations were inversely associated with β-cell autoantigens glutamic acid decarboxylase (isoform 65) (GADA) and insulinoma associated antigen-2A (IA-2A)...
November 10, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/29124525/heterogeneity-in-retinoblastoma-a-tale-of-molecules-and-models
#18
REVIEW
Sonya Stenfelt, Maria K E Blixt, Charlotta All-Ericsson, Finn Hallböök, Henrik Boije
Retinoblastoma, an intraocular pediatric cancer, develops in the embryonic retina following biallelic loss of RB1. However, there is a wide range of genetic and epigenetic changes that can affect RB1 resulting in different clinical outcomes. In addition, other transformations, such as MYCN amplification, generate particularly aggressive tumors, which may or may not be RB1 independent. Recognizing the cellular characteristics required for tumor development, by identifying the elusive cell-of-origin for retinoblastoma, would help us understand the development of these tumors...
November 9, 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/29121256/malignant-testicular-germ-cell-tumors-in-postpubertal-individuals-with-androgen-insensitivity-prevalence-pathology-and-relevance-of-single-nucleotide-polymorphism-based-susceptibility-profiling
#19
M Cools, K P Wolffenbuttel, R Hersmus, B B Mendonca, J Kaprová, S L S Drop, H Stoop, A J M Gillis, J W Oosterhuis, E M F Costa, S Domenice, M Y Nishi, L Wunsch, C A Quigley, G T'Sjoen, L H J Looijenga
STUDY QUESTION: What is the prevalence of malignant testicular germ cell tumors (TGCT) and its precursors, (pre-) germ cell neoplasia in situ (GCNIS), in late teenagers and adults who have androgen insensitivity syndrome (AIS) and the impact of an individual's genetic susceptibility to development of TGCT? SUMMARY ANSWER: No GCNIS or TGCT was diagnosed, but pre-GCNIS was identified in 14 and 10% of complete and partial AIS patients, respectively, and was associated with a higher genetic susceptibility score (GSS), with special attention for KITLG (rs995030) and ATFZIP (rs2900333)...
November 7, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29119932/relevance-of-cyp2c9-function-in-valproate-therapy
#20
Katalin Monostory, Andrea Nagy, Katalin Toth, Tamas Budi, Adam Kiss, Mate Deri, Gabor Csukly
Genetic polymorphisms of drug metabolizing enzymes can substantially modify the pharmacokinetics of a drug and eventually its efficacy or toxicity; however, inferring a patient's drug metabolizing capacity merely from his or her genotype can lead to false prediction. Non-genetic host factors (age, sex, disease states) and environmental factors (nutrition, co-medication) can transiently alter the enzyme expression and activities resulting in genotype-phenotype mismatch. Although valproic acid is a well-tolerated anticonvulsant, pediatric patients are particularly vulnerable to valproate injury that can be partly attributed to the age-related differences in metabolic pathways...
November 9, 2017: Current Neuropharmacology
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