keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric genetics

keyword
https://www.readbyqxmd.com/read/28448514/a-new-gtf2i-braf-fusion-mediating-mapk-pathway-activation-in-pilocytic-astrocytoma
#1
Tajana Tešan Tomić, Josefin Olausson, Annica Wilzén, Magnus Sabel, Katarina Truvé, Helene Sjögren, Sándor Dósa, Magnus Tisell, Birgitta Lannering, Fredrik Enlund, Tommy Martinsson, Pierre Åman, Frida Abel
Pilocytic astrocytoma (PA) is the most common pediatric brain tumor. A recurrent feature of PA is deregulation of the mitogen activated protein kinase (MAPK) pathway most often through KIAA1549-BRAF fusion, but also by other BRAF- or RAF1-gene fusions and point mutations (e.g. BRAFV600E). These features may serve as diagnostic and prognostic markers, and also facilitate development of targeted therapy. The aims of this study were to characterize the genetic alterations underlying the development of PA in six tumor cases, and evaluate methods for fusion oncogene detection...
2017: PloS One
https://www.readbyqxmd.com/read/28448325/combined-spinal-epidural-anesthesia-with-dexmedetomidine-based-sedation-for-multiple-corrective-osteotomies-in-a-child-with-osteogenesis-imperfecta-type-iii-a-case-report
#2
Anju Gupta, Geeta Kamal, Nishkarsh Gupta, Anil Aggarwal
Osteogenesis imperfecta (OI) is a rare disabling genetic connective tissue disorder. General anesthesia in these patients is associated with increased risks. Regional anesthesia is favored wherever feasible, but there are limited reports of use of a sole regional technique in OI in pediatric patients. Moreover, combined spinal-epidural anesthesia has never been described previously. We are reporting the use of combined spinal-epidural anesthesia for a prolonged surgery (multiple osteotomies) of lower limbs in a 10-year-old wheelchair-bound child with OI type III...
April 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28446316/-prognostic-value-of-recurrent-molecular-genetics-and-epigenetics-abnormity-in-t-lymphoblastic-lymphoma-leukemia-review
#3
Wei Guan, Yu Jing, Li Yu
T lymphoblastic lymphoma / leukemia is a strong invasive and has a high incidence of various molecular genetic abnormalities. The NOTCH1 / FBXW7 mutation is one of the most common mutations, and related with good prognosis in T-LBL / ALL. PTEN mutation, a poor prognostic factor, could be overcome by NOTCH1 mutations in pediatric patients to some extent. Patients with MLL gene abnormality and loss of heterozygosity 6q have worse prognosis than those with normal karyotype. The incidence of MLL gene abnormality, RUNX1 mutation and DNMT3A mutation in early precursor T-lymphoblastic leukemia was higher than that of other mature subtypes, which could be used as risk stratification factors...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28445285/association-between-vitamin-d-receptor-bsmi-polymorphism-and-bone-mineral-density-in-pediatric-patients-a-meta-analysis-and-systematic-review-of-observational-studies
#4
Li Bao, Mingzhi Chen, Yong Lei, Zemin Zhou, Huiping Shen, Feng Le
BACKGROUND: Vitamin D and the vitamin D receptor (VDR) are important in the metabolic processes that affect bone mineral density (BMD). However, the effect of VDR BsmI polymorphism on BMD in pediatric patients is still unclear. METHODS: Eligible studies were identified from the following electronic databases: PubMed, Embase, the Cochrane Library, and the Chinese CNKI and Wanfang databases before October 1, 2016. Data were extracted from the eligible studies, and associations between VDR BsmI polymorphism and BMD in pediatric patients were estimated with weighted mean differences (WMDs) and 95% confidence intervals (CIs)...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445187/the-effects-of-inherited-nudt15-polymorphisms-on-thiopurine-active-metabolites-in-japanese-children-with-acute-lymphoblastic-leukemia
#5
Takaya Moriyama, Rina Nishii, Ting-Nien Lin, Kentaro Kihira, Hidemi Toyoda, Nersting Jacob, Motohiro Kato, Katsuyoshi Koh, Hiroto Inaba, Atsushi Manabe, Kjeld Schmiegelow, Jun J Yang, Hiroki Hori
Thiopurines [e.g. mercaptopurine (MP)] are widely used as chemotherapeutic agents in the treatment of pediatric acute lymphoblastic leukemia with dose-limiting hematopoietic toxicity. Recently, germline variants in NUDT15 have been identified as a major genetic cause for MP-related bone marrow suppression, and there is increasing interest in the clinical implementation of NUDT15 genotype-guided MP dose individualization. Therefore, we sought to evaluate the effects of NUDT15 on thiopurine metabolism and identify pharmacologic markers to inform NUDT15 genotype-guided MP dosing...
April 25, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#6
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442130/autoinflammatory-diseases-in-pediatric-dermatology-part-1-urticaria-like-syndromes-pustular-syndromes-and-mucocutaneous-ulceration-syndromes
#7
S Hernández-Ostiz, L Prieto-Torres, G Xirotagaros, L Noguera-Morel, Á Hernández-Martín, A Torrelo
Monogenic autoinflammatory diseases are a heterogeneous emergent group of conditions that are currently under intensive study. We review the etiopathogenesis of these syndromes and their principal manifestations. Our aim is to propose a classification system based on the clinicopathologic features of typical skin lesions for routine clinical use in dermatology. Our focus is on diagnosis in pediatric practice given that this is the period when the signs and symptoms of these syndromes first appear. In Part 1 we discuss the course of urticaria-like syndromes, which include cryopyrin-associated periodic conditions and hereditary periodic fever syndromes...
April 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28440249/innovations-in-pediatric-cataract-surgery
#8
Sudarshan Kumar Khokhar, Ganesh Pillay, Esha Agarwal, Manish Mahabir
Advances in technology have made surgery in children safer and faster. The management of pediatric cataract has made rapid progress in the past decade with the availability of safer anesthesia, newer technique's, more predictable intraocular lens (IOL) power calculation, a better understanding of neurobiology, genetics, amblyopia management, improved IOL designs for preventing visual axis opacification, and adjuvant postoperative care. Modern vitrectomy machines with minimally invasive instruments, radiofrequency, diathermy, and plasma blades help immensely in complicated cases...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28439216/pediatric-obesity-and-cardiometabolic-disorders-risk-factors-and-biomarkers
#9
E Levy, A K Saenger, M W Steffes, E Delvin
Obesity remains the most prevailing disorder in childhood males and females worldwide. Its high prevalence markedly predisposes children to insulin resistance, hypertension, hyperlipidemia and liver disorders while enhancing the risk of type 2 diabetes and cardiovascular diseases. In this review, the relationship of obesity with genetic and environmental factors will be described and the underlined causes will briefly be reported. As obesity in children constitutes an increasingly health concern, important potential biomarkers have been discussed for the diagnosis, treatment and follow-up of the wide range of overweight-related complications...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28432815/immunoassays-for-the-quantification-of-alk-and-phosphorylated-alk-support-the-evaluation-of-on-target-alk-inhibitors-in-neuroblastoma
#10
Elizabeth R Tucker, Jennifer R Tall, Laura S Danielson, Sharon Gowan, Yann Jamin, Simon P Robinson, Udai Banerji, Louis Chesler
Targeted inhibition of Anaplastic Lymphoma Kinase (ALK) is a successful approach for the treatment of many ALK-aberrant malignancies, however the presence of resistant mutations necessitates both the development of more potent compounds and pharmacodynamic methods with which to determine their efficacy. We describe immunoassays designed to quantitate phosphorylation of ALK, and their use in preclinical models of neuroblastoma, a pediatric malignancy in which gain-of-function ALK mutations predict a poor overall outcome to conventional treatment...
April 22, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28431179/mirna-regulation-in-gliomas-usual-suspects-in-glial-tumorigenesis-and-evolving-clinical-applications
#11
Heather Ames, Marc K Halushka, Fausto J Rodriguez
In recent years, an increasing role for noncoding small RNAs (miRNA) has been uncovered in carcinogenesis. These oligonucleotides can promote degradation and/or inhibit translation of key mRNAs. Recent studies have also highlighted a possible role for miRNAs in adult and pediatric brain tumors, including high- and low-grade gliomas, medulloblastoma, ependymoma, and neoplasms associated with neurofibromatosis type 1. Gliomas represent the most common category of primary intraparenchymal brain tumors, and, for example, manipulation of signaling pathways, through inhibition of PTEN transcription appears to be an important function of miRNA dysregulation through miR-21, miR-106b, and miR-26a...
April 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28429405/child-body-mass-index-genotype-and-parenting-in-the-prediction-of-restrictive-feeding
#12
K K Bost, M Teran-Garcia, S M Donovan, B H Fiese
BACKGROUND: Restrictive feeding is implicated in pediatric obesity, and caregivers increase controlling feeding practices on the basis of higher child weight status. However, few studies have examined how child genetic and parenting characteristics together impact restrictive feeding. OBJECTIVES: We examined whether child body mass index (BMI) status predicts caregiver use of restrictive feeding and if this association is moderated by (i) caregiver strategies to manage their children's distress and (ii) child variations in the catechol-O-methyltransferase (COMT) gene (Val(158) Met, rs4680)...
April 21, 2017: Pediatric Obesity
https://www.readbyqxmd.com/read/28427357/haplotype-of-non-synonymous-mutations-within-il-23r-is-associated-with-susceptibility-to-severe-malaria-anemia-in-a-p-falciparum-holoendemic-transmission-area-of-kenya
#13
Elly O Munde, Evans Raballah, Winnie A Okeyo, John M Ong'echa, Douglas J Perkins, Collins Ouma
BACKGROUND: Improved understanding of the molecular mechanisms involved in pediatric severe malarial anemia (SMA) pathogenesis is a crucial step in the design of novel therapeutics. Identification of host genetic susceptibility factors in immune regulatory genes offers an important tool for deciphering malaria pathogenesis. The IL-23/IL-17 immune pathway is important for both immunity and erythropoiesis via its effects through IL-23 receptors (IL-23R). However, the impact of IL-23R variants on SMA has not been fully elucidated...
April 20, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28426273/preclinical-development-of-bcg-hiva-2auxo-int-harboring-an-integrative-expression-vector-for-a-hiv-tb-pediatric-vaccine-enhancement-of-stability-and-specific-hiv-1-t-cell-immunity
#14
Aakash Mahant, Narcís Saubi, Yoshiki Eto, Núria Guitart, Josep M ª Gatell, Tomáš Hanke, Joan Joseph
One of the critical issues that should be addressed in the development of a BCG-based HIV vaccine is genetic plasmid stability. Therefore, to address this issue we have considered using integrative vectors and the auxotrophic mutant of BCG complemented with a plasmid carrying a wild-type complementing gene. In this study, we have constructed an integrative E. coli-mycobacterial shuttle plasmid, p2auxo.HIVA(int), expressing the HIV-1 clade A immunogen HIVA. This shuttle vector employs an antibiotic resistance-free mechanism for plasmid selection and maintenance...
April 20, 2017: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#15
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28422826/idiopathic-hypoparathyroidism-with-extensive-intracranial-calcification-in-children-first-report-from-saudi-arabia
#16
Naglaa M Kamal, Hamed A Alghamdi, Abdulrahman A Halabi, Ayman A Bakkar, Ali Algarni, Abdullah Alharbi, Abdulla A Alharthi, Rawan A Alharbi, Laila M Sherief
RATIONALE: Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases worldwide. PATIENT CONCERNS: An 11-year-old Saudi male child presented with tetany with otherwise normal neurological and other body system examination diagnoses severe hypocalcemia for differential diagnosis. INTERVENTIONS: Further investigations revealed hyperphosphatemia and undetectable serum intact parathyroid hormone...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28421887/preferences-for-the-return-of-individual-results-from-research-on-pediatric-biobank-samples
#17
Kurt D Christensen, Sarah K Savage, Noelle L Huntington, Elissa R Weitzman, Sonja I Ziniel, Phoebe L Bacon, Cara N Cacioppo, Robert C Green, Ingrid A Holm
Discussions about disclosing individual genetic research results include calls to consider participants' preferences. In this study, parents of Boston Children's Hospital patients set preferences for disclosure based on disease preventability and severity, and could exclude mental health, developmental, childhood degenerative, and adult-onset disorders. Participants reviewed hypothetical reports and reset preferences, if desired. Among 661 participants who initially wanted all results (64%), 1% reset preferences...
April 2017: Journal of Empirical Research on Human Research Ethics: JERHRE
https://www.readbyqxmd.com/read/28419081/prepubertal-children-born-large-for-gestational-age-have-lower-serum-dheas-concentrations-than-those-with-a-lower-birth-weight
#18
Henrikki Nordman, Raimo Voutilainen, Leena Antikainen, Jarmo Jääskeläinen
BACKGROUND: Children born small for gestational age (SGA) have higher serum dehydroepiandrosterone sulfate (DHEAS) concentrations than children born appropriate for gestational age (AGA). The overall metabolic risk associated with birth weight is U-shaped, but it is not known if children born large for gestational age (LGA) have elevated serum DHEAS levels. METHODS: A cohort of 49 LGA, 56 AGA, and 23 SGA children were studied at 5-8 years of age. Anthropometric data at birth, at the age of two years, and at examination were recorded...
April 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#19
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28414188/a-case-of-splenomegaly-in-cbl-syndrome
#20
Rachel R Coe, Margaret L McKinnon, Maja Tarailo-Graovac, Colin J Ross, Wyeth W Wasserman, Jan M Friedman, Paul C Rogers, Clara D M van Karnebeek
INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features...
April 13, 2017: European Journal of Medical Genetics
keyword
keyword
26463
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"