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https://www.readbyqxmd.com/read/28938089/drug-discovery-and-chemical-biology-of-cancer-epigenetics
#1
REVIEW
Scott Ribich, Darren Harvey, Robert A Copeland
Comprehensive whole-exome sequencing, DNA copy-number determination, and transcriptomic analyses of diverse cancers have greatly expanded our understanding of the biology of many tumor types. In addition to mutations in the common cell-of-origin specific driver mutations, these studies have also revealed a large number of loss-of-function and gain-of-function mutations in chromatin-modifying proteins (CMPs). This has revealed that epigenetic dysregulation is a common feature of most pediatric and adult cancers...
September 21, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28937887/characteristics-and-associated-comorbidities-of-pediatric-dental-patients-treated-under-general-anesthesia
#2
Alexandra Delfiner, Aaron Myers, Christie Lumsden, Steve Chussid, Richard Yoon
OBJECTIVE: To describe characteristics and identify common comorbidities of children receiving dental treatment under general anesthesia at Children's Hospital of New York-Presbyterian. STUDY DESIGN: Electronic medical records of all children that received dental treatment under general anesthesia through the Division of Pediatric Dentistry from 2012-2014 were reviewed. Data describing patient characteristics (age, sex, race/ethnicity, insurance carrier, and American Society of Anesthesiologists physical status classification system), medical history, and justification for treatment were collected...
September 22, 2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28937507/programme-directors-opinions-on-medical-genetics-education-in-pediatric-residency-programmes
#3
J Austin Hamm, Michele H Nichols, Nathaniel H Robin
No abstract text is available yet for this article.
September 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28937057/outcome-of-childhood-lupus-nephritis-in-saudi-children
#4
Sulaiman Mohammed Al-Mayouf, Ali AlAmeer, Areej Alfattani, Abdullah Alsonbul
Our aim in this study is to report the long-term renal outcome of a cohort of Saudi children with systemic lupus erythematosus (SLE). All patients with childhood lupus nephritis (cLN) proved by renal biopsy seen between January 2000 and June 2015 were reviewed. The renal outcome was assessed according to serum creatinine level, protein/creatinine ratio at the last follow-up visit, and/or evidence of renal impairment during follow-up period and end-stage renal disease (ESRD). Additional outcome measures include accrual damage measured by pediatric adaptation of the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (pSDI), and death related to SLE was determined...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28934110/a-recombinant-measles-vaccine-with-enhanced-resistance-to-passive-immunity
#5
Emily Julik, Jorge Reyes-Del Valle
Current measles vaccines suffer from poor effectiveness in young infants due primarily to the inhibitory effect of residual maternal immunity on vaccine responses. The development of a measles vaccine that resists such passive immunity would strongly contribute to the stalled effort toward measles eradication. In this concise communication, we show that a measles virus (MV) with enhanced hemagglutinin (H) expression and incorporation, termed MVvac2-H2, retained its enhanced immunogenicity, previously established in older mice, when administered to very young, genetically modified, MV-susceptible mice in the presence of passive anti-measles immunity...
September 21, 2017: Viruses
https://www.readbyqxmd.com/read/28933339/incidence-and-outcome-of-lupus-nephritis-in-french-polynesia%C3%A2
#6
Antoine Delarche, Catherine Lumbroso, Alain Fournier, Ronan Delaval, Jacques Pourrat, Pascale Testevuide, Sylvie Leou, Christophe Cordonnier, Dominique Chauveau, Stanislas Faguer
OBJECTIVE: Outcomes of systemic lupus erythematosus (SLE) and lupus nephritis (LN) are highly heterogeneous among some populations because of interactions between genetic, epigenetic, environmental, and socioeconomic factors. A better characterization of social and ethnic disparities in mixed populations may thus help to develop individualized treatment regimens. MATERIALS AND METHODS: Retrospective observational study including all patients with LN diagnosed between January 1993 and January 2014 in the only Nephrology Department of French Polynesia...
September 21, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28933291/pharmacotranscriptomic-biomarkers-in-glucocorticoid-treatment-of-pediatric-inflammatory-bowel-disease
#7
Marianna Lucafò, Biljana Stankovic, Nikola Kotur, Alessia Di Silvestre, Stefano Martelossi, Alessandro Ventura, Branka Zukic, Sonya Pavlovic, Giuliana Decorti
Pharmacotranscriptomics aims to reach more accurate drug dosing based on interindividual transcriptome variations. Here, we provide an overview of RNA biomarkers that could predict the response to glucocorticoids (GCs), considered the standard for treatment of inflammatory bowel diseases (IBD), both in adult and pediatric patients. Although new biological agents are very effective in the IBD treatment, GCs are still widely used for induction of remission in IBD patients with moderate to severe disease. It is important to identify patients that are poor responders to GCs therapy, because suboptimal response is frequent and associated with various side effects...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28932552/chylothorax-after-pediatric-cardiac-surgery-complicates-short-term-but-not-long-term-outcomes-a-propensity-matched-analysis
#8
Nikoletta R Czobor, György Roth, Zsolt Prodán, Daniel J Lex, Erzsébet Sápi, László Ablonczy, Mihály Gergely, Edgar A Székely, János Gál, Andrea Székely
BACKGROUND: The occurrence of postoperative chylothorax in children with congenital heart disease is a rare and serious complication in cardiac intensive care units (ICUs). The aim of our study was to identify the perioperative characteristics, treatment options, resource utilization and long term complications of patients having chylothorax after a pediatric cardiac surgery. METHODS: Patients were retrospectively assessed for the presence of chylothorax between January 2002 and December 2012 in a tertiary national cardiac center...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#9
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28929227/genetic-predisposition-in-children-with-cancer-affected-families-acceptance-of-trio-wes
#10
Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen
A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS...
September 19, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28928611/brugada-syndrome-in-children-stepping-into-unchartered-territory
#11
REVIEW
Shashank P Behere, Steven N Weindling
Brugada syndrome (BrS) is an autosomal dominant inherited channelopathy. It is associated with a typical pattern of ST-segment elevation in the precordial leads V1-V3 and potentially lethal ventricular arrhythmias in otherwise healthy patients. It is frequently seen in young Asian males, in whom it has previously been described as sudden unexplained nocturnal death syndrome. Although it typically presents in young adults, it is also known to present in children and infants, especially in the presence of fever...
September 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28923290/use-of-adult-sensory-panel-to-study-individual-differences-in-the-palatability-of-a-pediatric-hiv-treatment-drug
#12
Julie A Mennella, Phoebe S Mathew, Elizabeth D Lowenthal
PURPOSE: The recommended first-line treatment for young children infected with HIV includes the liquid formulation of the co-formulated protease inhibitors lopinavir/ritonavir (Kaletra(®) [Abbott Laboratories, Chicago, Illinois]). Clinical reports indicate that some children readily accept the taste of Kaletra, whereas others strongly reject it, which can deter therapeutic adherence and outcomes. METHODS: As a proof-of-concept approach, a sensory panel of genotyped adults was used to document the range of individual differences in the taste and palatability (hedonics) of the liquid formulation of Kaletra and other taste stimuli, including common excipients...
September 15, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28921643/bridging-adult-experience-to-pediatrics-in-oncology-drug-development
#13
Ruby Leong, Hong Zhao, Gregory Reaman, Qi Liu, Yaning Wang, Clinton F Stewart, Gilbert Burckart
Pediatric drug development in the United States has grown under the current regulations made permanent by the Food and Drug Administration Safety and Innovation Act of 2012. Over 1200 pediatric studies have now been submitted to the US FDA, but there is still a high rate of failure to obtain pediatric labeling for the indication pursued. Pediatric oncology represents special problems in that the disease is most often dissimilar to any cancer found in the adult population. Therefore, the development of drug dosing in pediatric oncology patients represents a special challenge...
October 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28921387/analysis-of-24-genes-reveals-a-monogenic-cause-in-11-1-of-cases-with-steroid-resistant-nephrotic-syndrome-at-a-single-center
#14
Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle Baum, Ghaleb Daouk, Michael A Ferguson, Nancy Rodig, Michael J G Somers, Deborah R Stein, Asaf Vivante, Jillian K Warejko, Eugen Widmeier, Friedhelm Hildebrandt
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of end-stage renal disease (ESRD) among patients manifesting at under 25 years of age. We performed mutation analysis using a high-throughput PCR-based microfluidic technology in 24 single-gene causes of SRNS in a cohort of 72 families, who presented with SRNS before the age of 25 years. METHODS: Within an 18-month interval, we obtained DNA samples, pedigree information, and clinical information from 77 consecutive children with SRNS from 72 different families seen at Boston Children's Hospital (BCH)...
September 18, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28921168/chromosomal-abnormalities-affect-the-surgical-outcome-in-infants-with-hypoplastic-left-heart-syndrome-a-large-cohort-analysis
#15
Dala Zakaria, Xinyu Tang, Rupal Bhakta, Nahed O ElHassan, Parthak Prodhan
Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors...
September 18, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28917160/is-magnet%C3%A2-recognition-associated-with-improved-outcomes-among-critically-ill-children-treated-at-freestanding-children-s-hospitals
#16
Mallikarjuna Rettiganti, Kavisha M Shah, Jeffrey M Gossett, Joshua A Daily, Paul M Seib, Punkaj Gupta
PURPOSE: With increasing emphasis on high-quality care, we designed this study to evaluate the relationship between Magnet® recognition and patient outcomes in pediatric critical care. MATERIALS AND METHODS: Post hoc analysis of data from an existing administrative national database. We used inverse probability of treatment weighting and multivariate models to compare outcomes between two study groups after adjusting for confounding variables. RESULTS: A total of 823,634 pediatric patients from 41 centers were included...
September 5, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#17
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28913729/exome-array-analysis-identifies-etfb-as-a-novel-susceptibility-gene-for-anthracycline-induced-cardiotoxicity-in-cancer-patients
#18
Sara Ruiz-Pinto, Guillermo Pita, Miguel Martín, Teresa Alonso-Gordoa, Daniel R Barnes, María R Alonso, Belén Herraez, Purificación García-Miguel, Javier Alonso, Antonio Pérez-Martínez, Antonio J Cartón, Federico Gutiérrez-Larraya, José A García-Sáenz, Javier Benítez, Douglas F Easton, Ana Patiño-García, Anna González-Neira
PURPOSE: Anthracyclines are widely used chemotherapeutic drugs that can cause progressive and irreversible cardiac damage and fatal heart failure. Several genetic variants associated with anthracycline-induced cardiotoxicity (AIC) have been identified, but they explain only a small proportion of the interindividual differences in AIC susceptibility. METHODS: In this study, we evaluated the association of low-frequency variants with risk of chronic AIC using the Illumina HumanExome BeadChip array in a discovery cohort of 61 anthracycline-treated breast cancer patients with replication in a second independent cohort of 83 anthracycline-treated pediatric cancer patients, using gene-based tests (SKAT-O)...
September 14, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28912948/outbreak-of-fusarium-oxysporum-infections-in-children-with-cancer-an-experience-with-7-episodes-of-catheter-related-fungemia
#19
Fabianne Carlesse, Anna-Paula C Amaral, Sarah S Gonçalves, Hemilio Xafranski, Maria-Lucia M Lee, Victor Zecchin, Antonio S Petrilli, Abdullah M Al-Hatmi, Ferry Hagen, Jacques F Meis, Arnaldo L Colombo
BACKGROUND: Fusarium species are widely spread in nature as plant pathogens but are also able to cause opportunistic fungal infections in humans. We report a cluster of Fusarium oxysporum bloodstream infections in a single pediatric cancer center. METHODS: All clinical and epidemiological data related to an outbreak involving seven cases of fungemia by Fusarium oxysporum during October 2013 and February 2014 were analysed. All cultured isolates (n = 14) were identified to species level by sequencing of the TEF1 and RPB2 genes...
2017: Antimicrobial Resistance and Infection Control
https://www.readbyqxmd.com/read/28912187/pediatric-cardiomyopathies
#20
REVIEW
Teresa M Lee, Daphne T Hsu, Paul Kantor, Jeffrey A Towbin, Stephanie M Ware, Steven D Colan, Wendy K Chung, John L Jefferies, Joseph W Rossano, Chesney D Castleberry, Linda J Addonizio, Ashwin K Lal, Jacqueline M Lamour, Erin M Miller, Philip T Thrush, Jason D Czachor, Hiedy Razoky, Ashley Hill, Steven E Lipshultz
Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent...
September 15, 2017: Circulation Research
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