keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric genetics

keyword
https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#1
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28534114/pediatric-hypothyroidism-diagnosis-and-treatment
#2
Ari J Wassner
Thyroid hormone has important physiologic functions in nearly every organ system. The critical role of thyroid hormone in growth and in physical and neurologic development lends particular importance to the prompt diagnosis and appropriate treatment of hypothyroidism in infants and children. Congenital hypothyroidism is common and has potentially devastating neurologic consequences. While the approach to diagnosis and treatment of severe congenital hypothyroidism is well established, data continue to emerge about the genetic causes, clinical significance, and prognosis of the milder forms of congenital hypothyroidism that are increasingly being diagnosed by newborn screening...
May 22, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28533356/loss-of-function-mutations-in-the-cables1-gene-are-a-novel-cause-of-cushing-s-disease
#3
Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya Lodish, Nathan Pankratz, Aurélio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M Kay, Aggeliki Dimopoulou, Stephane Gaillard, Mario Neou, Jerome Bertherat, Guillaume Assié, Chiara Villa, James L Mills, Jacques Drouin, Constantine A Stratakis
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations...
May 22, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28533310/mutations-of-map2k1-are-frequent-in-pediatric-type-follicular-lymphoma-and-result-in-erk-pathway-activation
#4
Janine Schmidt, Joan Enric Ramis-Zaldivar, Ferran Nadeu, Blanca Gonzalez-Farre, Alba Navarro, Caoimhe Egan, Ivonne Aidee Montes-Mojarro, Teresa Marafioti, Jose Cabeçadas, Jon van der Walt, Stefan Dojcinov, Andreas Rosenwald, German Ott, Irina Bonzheim, Falko Fend, Elias Campo, Elaine S Jaffe, Itziar Salaverria, Leticia Quintanilla-Martinez
Pediatric-type follicular lymphoma (PTFL) is a B-cell lymphoma with distinctive clinico-pathological features. Recently, recurrent genetic alterations of potential importance for its pathogenesis that disrupt pathways associated with the germinal center reaction (TNFRSF14, IRF8), immune escape (TNFRSF14) and anti-apoptosis (MAP2K1) have been described. In an attempt to shed more light onto the pathogenesis of PTFL, an integrative analysis of these mutations was undertaken in a large cohort of 43 cases previously characterized by targeted next generation sequencing and copy number array...
May 22, 2017: Blood
https://www.readbyqxmd.com/read/28527290/association-of-polymorphic-variants-of-ptpn22-tnf-and-vdr-genes-in-children-with-lupus-nephritis-a-study-in-colombian-family-triads
#5
Gloria Garavito, Eduardo Egea, Luis Fang, Clara Malagón, Carlos Olmos, Luz González, Pilar Guarnizo, Gustavo Aroca, Guillermo López, Antonio Iglesias
INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability. OBJECTIVE: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28523321/autoimmune-hepatitis-with-sclerosing-cholangitis-in-a-patient-with-thiopurine-methyltransferase-deficiency-case-presentation
#6
Sorin Claudiu Man, Cristina Nicoleta Schnell, Valentina Sas, Anca Dana Buzoianu, Dan Gheban
The association between two autoimmune diseases is known in the literature as overlap syndrome. We present the case of an 18-year-old boy, diagnosed at the age of 13 with an overlap syndrome between type I autoimmune hepatitis and sclerosing cholangitis. The response to immunosuppressant therapy was hampered by azathioprine-induced toxicity causing severe pancytopenia, as a result of thiopurine methyltransferase enzyme genetic deficiency. Treatment was replaced by mycophenolate mofetil. Although the relapse rate was reduced, the disease progressed to cirrhosis...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28522693/histone-h3-3k27m-represses-p16-to-accelerate-gliomagenesis-in-a-murine-model-of-dipg
#7
Francisco J Cordero, Zhiqing Huang, Carole Grenier, Xingyao He, Guo Hu, Roger E McLendon, Susan K Murphy, Rintaro Hashizume, Oren J Becher
Diffuse Intrinsic Pontine Glioma (DIPG) is a highly aggressive pediatric brainstem tumor genetically distinguished from adult GBM by the high prevalence of the K27M mutation in the histone H3 variant H3.3 (H3F3A). This mutation reprograms the H3K27me3 epigenetic landscape of DIPG by inhibiting the H3K27-specific histone methyltransferase EZH2. This globally reduces H3K27me2/3, critical repressive marks responsible for cell fate decisions, and also causes focal gain of H3K27me3 throughout the epigenome. To date the tumor-driving effects of H3...
May 18, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28521635/pathologic-characteristics-natural-history-and-prognostic-implications-of-braf-v600e-mutation-in-pediatric-papillary-thyroid-carcinoma
#8
Steven Hardee, Manju L Prasad, Pei Hui, Catherine A Dinauer, Raffaella A Morotti
The BRAF(V600E) mutation is the most common genetic aberration in papillary thyroid cancer (PTC), found in up to 68% of PTC in adults where it is associated with aggressive features. The incidence of this mutation in pediatric PTC is less frequent, reported as 0%-20% in the past and up to 63% in one recent series. Data suggest the mutation is not associated with an aggressive course in children; however, there are limited numbers of reported case series, so the prognostic implications remain poorly understood...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521628/cd36-positive-b-lymphoblasts-predict-poor-outcome-in-children-with-b-lymphoblastic-leukemia
#9
Joanna G Newton, John T Horan, Scott Newman, Michael R Rossi, Rhett P Ketterling, Sunita I Park
Objective We observed that pediatric patients with B lymphoblastic leukemia which expressed CD36 at diagnosis seemed to have worse outcome than patients whose blasts did not. Here, we describe the patient, disease characteristics, pathological, molecular, and genetic features and outcomes of patients with CD36+ B-LL compared to patients with CD36- B-LL. Methods We retrospectively reviewed all flow cytometry reports from September 2008 to December 2015 to identify patients diagnosed at our institution with CD36 expression on B lymphoblasts...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28516235/clinical-imaging-and-genotypical-features-of-three-deceased-and-five-surviving-cases-with-ada2-deficiency
#10
Sezgin Sahin, Amra Adrovic, Kenan Barut, Serdal Ugurlu, Eda Tahir Turanli, Huri Ozdogan, Ozgur Kasapcopur
Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases...
May 17, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#11
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28513610/haploinsufficiency-of-znf462-is-associated-with-craniofacial-anomalies-corpus-callosum-dysgenesis-ptosis-and-developmental-delay
#12
Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka
The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28513549/brain-rna-seq-profiling-of-the-mucopolysaccharidosis-type-ii-mouse-model
#13
Marika Salvalaio, Francesca D'Avanzo, Laura Rigon, Alessandra Zanetti, Michela D'Angelo, Giorgio Valle, Maurizio Scarpa, Rosella Tomanin
Lysosomal storage disorders (LSDs) are a group of about 50 genetic metabolic disorders, mainly affecting children, sharing the inability to degrade specific endolysosomal substrates. This results in failure of cellular functions in many organs, including brain that in most patients may go through progressive neurodegeneration. In this study, we analyzed the brain of the mouse model for Hunter syndrome, a LSD mostly presenting with neurological involvement. Whole transcriptome analysis of the cerebral cortex and midbrain/diencephalon/hippocampus areas was performed through RNA-seq...
May 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28507982/the-role-of-carrageenan-and-carboxymethylcellulose-in-the-development-of-intestinal-inflammation
#14
REVIEW
John Vincent Martino, Johan Van Limbergen, Leah E Cahill
Although the exact pathophysiology remains unknown, the development of inflammatory bowel disease (IBD) is influenced by the interplay between genetics, the immune system, and environmental factors such as diet. The commonly used food additives, carrageenan and carboxymethylcellulose (CMC), are used to develop intestinal inflammation in animal models. These food additives are excluded from current dietary approaches to induce disease remission in Crohn's disease such as exclusive enteral nutrition (EEN) using a polymeric formula...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28505279/somatic-usp8-gene-mutations-are-a-common-cause-of-pediatric-cushing-disease
#15
Fabio R Faucz, Amit Tirosh, Christina Tatsi, Annabel Berthon, Laura C Hernández-Ramírez, Nikolaos Settas, Anna Angelousi, Ricardo Correa, Georgios Z Papadakis, Prashant Chittiboina, Martha Quezado, Nathan Pankratz, John Lane, Aggeliki Dimopoulos, James L Mills, Maya Lodish, Constantine A Stratakis
Context: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric population has not been extensively assessed. Objective: We investigated the status of the USP8 gene at the somatic level in a cohort of pediatric patients with corticotroph adenomas. Design and Methods: The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric CD patients...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28504511/-intrauterine-growth-restriction-endocrinological-perspective-update-of-the-2007-version-arch-argent-pediatr-2007-105-1-71-73
#16
(no author information available yet)
Most children born with low weight or intrauterine growth restriction develop catch-up growth that allows them to reach a final height according to their genetic target height. However, in about 15% of children this growth is insufficient. In both, children who have adequate compensatory growth and therefore normal height and children who remain low in childhood, it is necessary to take into account that if puberty starts early, the final height could be compromised. Timely and appropriate intervention could improve it...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502828/premature-ovarian-insufficiency-an-adolescent-series
#17
Kallirroi Chaloutsou, Pantelis Aggelidis, Andreas Pampanos, Eleni Theochari, Lina Michala
STUDY OBJECTIVE: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents DESIGN: Retrospective notes review SETTING: Tertiary Referral Outpatient clinic for Pediatric and Adolescent Gynecology PARTICIPANTS: Adolescents with POI INTERVENTIONS: Standard POI evaluation MAIN OUTCOME MEASURES: Age and clinical symptoms at presentation, causative factor for POI, if identified. RESULTS: We identified 22 girls with POI, with a mean age of 15...
May 11, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28502440/motility-disorders-in-children
#18
REVIEW
Samuel Nurko
Gastrointestinal motility disorders in the pediatric population are common and can range from benign processes to more serious disorders. Performing and interpreting motility evaluations in children present unique challenges. There are primary motility disorders but abnormal motility may be secondary due to other disease processes. Diagnostic studies include radiographic scintigraphic and manometry studies. Although recent advances in the genetics, biology, and technical aspects are having an important impact and have allowed for a better understanding of the pathophysiology and therapy for gastrointestinal motility disorders in children, further research is needed to be done to have better understanding of the pathophysiology and for better therapies...
June 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28502191/a-novel-mutation-in-als2-associated-with-severe-and-progressive-infantile-onset-of-spastic-paralysis
#19
Huma Tariq, Shahid Mukhtar, Sadaf Naz
Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of both patients. The obligate carriers were heterozygous for the mutation and other unaffected members were homozygous for the wild type allele...
May 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28500748/epidemiology-and-genetic-diversity-of-classic-human-astrovirus-among-hospitalized-children-with-acute-gastroenteritis-in-uruguay
#20
Lfl Tort, A Lizasoain, M Victoria, C Papalardo, S Castro, E Arreseigor, P Lopez, R Colina
Classic Human Astrovirus (Classic HAstV) are one of the most important causes of pediatric acute gastroenteritis (AGE), after rotaviruses and arguably caliciviruses. The aim of this study was to determine the molecular epidemiology of Classic HAstV from 175 clinical samples, being 153 stools and 22 vomits, collected from pediatric hospitalized patients with AGE in Salto city, Uruguay, from January 2011 to December 2012. Classic HAstV were detected and genotyped by using a qualitative Retro Transcription - Polimerase Chain Reaction (RT-PCR) directed to the Open Reading Frame-2 (ORF2) region C...
May 13, 2017: Journal of Medical Virology
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"