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https://www.readbyqxmd.com/read/29341473/somatic-mosaic-deletions-involving-scn1a-cause-dravet-syndrome
#1
Tojo Nakayama, Atsushi Ishii, Takeshi Yoshida, Hirosato Nasu, Keiko Shimojima, Toshiyuki Yamamoto, Shigeo Kure, Shinichi Hirose
Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. The allele frequency of the mosaic deletions estimated by multiplex ligation-dependent probe amplification and array comparative genomic hybridization was 25-40%, which was comparable to the mosaic ratio in lymphocytes and buccal mucosa cells observed by fluorescence in situ hybridization analysis...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29335375/reflections-on-telomere-dynamics-and-ageing-related-diseases-in-humans
#2
REVIEW
Abraham Aviv, Jerry W Shay
Epidemiological studies have principally relied on measurements of telomere length (TL) in leucocytes, which reflects TL in other somatic cells. Leucocyte TL (LTL) displays vast variation across individuals-a phenomenon already observed in newborns. It is highly heritable, longer in females than males and in individuals of African ancestry than European ancestry. LTL is also longer in offspring conceived by older men. The traditional view regards LTL as a passive biomarker of human ageing. However, new evidence suggests that a dynamic interplay between selective evolutionary forces and TL might result in trade-offs for specific health outcomes...
March 5, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29334851/what-are-the-psychosocial-factors-associated-with-migraine-in-the-child-comorbid-psychiatric-disorders-family-functioning-parenting-style-or-mom-s-psychiatric-symptoms
#3
Gozde Kandemir, Selma Tural Hesapcioglu, Aysegül N Citak Kurt
OBJECTIVE: Psychiatric diagnoses, parenting style, family functioning among children and adolescents with migraine, and psychiatric symptoms of their mothers were examined. METHODS: The K-SADS and other measurements were used to assess psychiatric disorders in 50 children with migraine (aged 8-18) and matched 50 controls. RESULTS: At least one psychiatric disorder was diagnosed in 56% of the migraine group. The presence of any psychiatric disorder in children (odds ratio [OR] = 2...
February 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29322178/early-genetic-diagnosis-of-neurofibromatosis-type-2-from-skin-plaque-plexiform-schwannomas-in-childhood
#4
Elisabeth Castellanos, Adrià Plana, Cristina Carrato, Meritxell Carrió, Inma Rosas, Emilio Amilibia, Francesc Roca-Ribas, Cristina Hostalot, Alicia Castillo, Andrea Ros, Ariadna Quer, Juan Luis Becerra, Hector Salvador, Conxi Lázaro, Ignacio Blanco, Eduard Serra, Isabel Bielsa
Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing...
January 10, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29321443/a-new-arena-in-cardiac-surgery-pediatric-coronary-artery-bypass-surgery
#5
Soichiro Kitamura
Prior to the 1970s, pediatric coronary artery bypass surgery (PCABS) was seldomly performed due to the lack of compelling surgical indications. The advent of coronary sequelae secondary to Kawasaki disease (KD) and the occurrence of coronary artery complications due to newly developed procedures, such as the arterial switch operation and early repair for intrinsic congenital coronary malformations, necessitated the development of PCABS. Because children grow rapidly and their life expectancy is very long, with increasing exercise capability requirements, the strategy for PCABS should differ from that for bypass surgery in adults...
2018: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29316859/biocultural-predictors-of-motor-coordination-among-prepubertal-boys-and-girls
#6
Leonardo G O Luz, João Valente-Dos-Santos, Tatiana D D Luz, Paulo Sousa-E-Silva, João P Duarte, Aristides Machado-Rodrigues, André Seabra, Rute Santos, Sean P Cumming, Manuel J Coelho-E-Silva
This study aimed to predict motor coordination from a matrix of biocultural factors for 173 children (89 boys, 84 girls) aged 7-9 years who were assessed with the Körperkoordinationtest für Kinder test battery. Socioeconomic variables included built environment, area of residence, mother's educational level, and mother's physical activity level (using the International Physical Activity Questionnaire [short version]). The behavioral domain was marked by participation in organized sports and habitual physical activity measured by accelerometers ( ActiGraph GT1M)...
February 2018: Perceptual and Motor Skills
https://www.readbyqxmd.com/read/29316344/widespread-dynamic-and-pleiotropic-expression-of-the-melanocortin-1-receptor-mc1r-system-is-conserved-across-chick-mouse-and-human-embryonic-development
#7
Anna C Thomas, Pauline Heux, Chloe Santos, Wisenave Arulvasan, Nita Solanky, Magalie E Carey, Dianne Gerrelli, Veronica A Kinsler, Heather C Etchevers
BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29315962/multiple-dicer1-related-tumors-in-a-child-with-a-large-interstitial-14q32-deletion
#8
Leanne de Kock, Dominique Geoffrion, Barbara Rivera, Rabea Wagener, Nelly Sabbaghian, Susanne Bens, Benjamin Ellezam, Dorothée Bouron-Dal Soglio, Jessica Ordóñez, Stephanie Sacharow, Jose Fernando Polo Nieto, R Paul Guillerman, Gordan M Vujanic, John R Priest, Reiner Siebert, William D Foulkes
Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13. We report the case of a male child with an approximately 5.8 Mbp 14q32.13q32.2 germ-line deletion, which included the full DICER1 locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 years: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers)...
January 9, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29298282/the-effects-of-growth-hormone-therapy-on-the-somatic-development-of-a-group-of-polish-children-with-silver-russell-syndrome
#9
Magdalena Sienko, Elżbieta Petriczko, Stanislaw Zajaczek, Agata Zygmunt-Gorska, Jerzy Starzyk, Alicja Korpysz, Jan Petriczko, Alicja Walczak, Mieczysław Walczak
OBJECTIVE: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients...
December 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29298116/somatic-activating-kras-mutations-in-arteriovenous-malformations-of-the-brain
#10
Sergey I Nikolaev, Sandra Vetiska, Ximena Bonilla, Emilie Boudreau, Suvi Jauhiainen, Behnam Rezai Jahromi, Nadiya Khyzha, Peter V DiStefano, Santeri Suutarinen, Tim-Rasmus Kiehl, Vitor Mendes Pereira, Alexander M Herman, Timo Krings, Hugo Andrade-Barazarte, Takyee Tung, Taufik Valiante, Gelareh Zadeh, Mike Tymianski, Tuomas Rauramaa, Seppo Ylä-Herttuala, Joshua D Wythe, Stylianos E Antonarakis, Juhana Frösen, Jason E Fish, Ivan Radovanovic
BACKGROUND: Sporadic arteriovenous malformations of the brain, which are morphologically abnormal connections between arteries and veins in the brain vasculature, are a leading cause of hemorrhagic stroke in young adults and children. The genetic cause of this rare focal disorder is unknown. METHODS: We analyzed tissue and blood samples from patients with arteriovenous malformations of the brain to detect somatic mutations. We performed exome DNA sequencing of tissue samples of arteriovenous malformations of the brain from 26 patients in the main study group and of paired blood samples from 17 of those patients...
January 18, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29296959/somatic-mutations-in-children-with-gata2-associated-myelodysplastic-syndrome-who-lack-other-features-of-gata2-deficiency
#11
Kevin E Fisher, Amy P Hsu, Christopher L Williams, Hadi Sayeed, Brian Y Merritt, M Tarek Elghetany, Steven M Holland, Alison A Bertuch, Maria Monica Gramatges
Approximately 10% of children with primary myelodysplastic syndrome (MDS) have germ line GATA2 mutations, leading to the proposal that all children with primary MDS and certain cytogenetic findings, including monosomy 7, be tested for germ line GATA2 mutations regardless of family history or other clinical features associated with GATA2 deficiency. In adults with familial GATA2-MDS, those with somatic mutations in ASXL1 experience rapid disease progression to acute myeloid leukemia (AML) and poor prognosis after stem cell transplantation; however, the prevalence of somatic mutations in primary pediatric GATA2-MDS is unclear...
February 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29286515/cortisol-level-as-risk-factor-for-malignant-hematologic-pathology-in-children-exposed-to-ionizing-radiation-after-chornobyl-accident
#12
V G Bebeshko, K M Bruslova, T I Pushkareva, N M Tsvietkova, L O Lyashenko, A S Sergeeva, V F Kuzmenko, S M Iatsemyrskiy, Yu M Samson, V G Boyarsky, I V Tryhlіb
OBJECTIVE: Determination of serum cortisol level in the initial period of acute leukemia in children, who exposed to ion izing radiation and other factors of Chornobyl accident, depending on their age and prognosis of disease. MATERIALS AND METHODS: The study involved 283 children residents of Kyiv, Zhytomyr and Chernihiv regions. There were 90 acute leukemia patients(AL) (ALL - 56, AML - 34), and 193 people of comparison group with anemia, leukemoid reactions and lymphadenopathy...
December 2017: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/29282338/unaffected-mosaic-c9orf72-case-rna-foci-dipeptide-proteins-but-upregulated-c9orf72-expression
#13
Philip McGoldrick, Ming Zhang, Marka van Blitterswijk, Christine Sato, Danielle Moreno, Shangxi Xiao, Ashley B Zhang, Paul M McKeever, Anna Weichert, Raphael Schneider, Julia Keith, Leonard Petrucelli, Rosa Rademakers, Lorne Zinman, Janice Robertson, Ekaterina Rogaeva
OBJECTIVE: Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small expansions (e.g., 30-90 repeats) is unknown and was investigated here. METHODS: We conducted a molecular and pathology study of a family in which the father (unaffected at age 90) carried a 70-repeat allele in blood DNA that expanded to ≈1,750 repeats in his children, causing ALS...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29280182/systematic-review-and-meta-analysis-found-higher-levels-of-behavioural-problems-in-male-left-behind-children-aged-6-11-years
#14
REVIEW
Guang-Bo Qu, Wei Wu, Ling-Ling Wang, Xue Tang, Ye-Huan Sun, Jie Li, Jun Wang
AIM: Left behind children (LBC) now account for more than one in five Chinese children and they often suffer from behavioural problems when their parents leave their rural homes to seek work in urban areas. The primary aim of this meta-analysis was to compare the incidence rates and factor scores of behavioural problems in LBC children, who now account for more than one-fifth of Chinese children, and non LBC children. METHODS: This systematic review and meta-analysis explored the children's characteristic behavioural problems using the Achenbach Child Behavior Check List...
December 27, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29279013/novel-approaches-to-diagnosis-and-treatment-of-juvenile-myelomonocytic-leukemia
#15
Franco Locatelli, Mattia Algeri, Pietro Merli, Luisa Strocchio
Juvenile myelomonocytic leukemia (JMML) is a clonal hematopoietic disorder of infancy/early childhood, resulting from oncogenic mutations in genes involved in the Ras pathway. As JMML often exhibits an aggressive course, the timing of diagnosis and treatment is critical to outcome. Areas covered: This review summarizes current approaches to diagnosis and treatment of JMML, highlighting most recent insights into genetic and epigenetic mechanisms underlying the disease, and providing an overview of novel potential therapeutic strategies...
January 3, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29278614/childhood-infections-and-subsequent-school-achievement-among-598-553-danish-children
#16
Ole Köhler-Forsberg, Holger J Sørensen, Merete Nordentoft, John J McGrath, Michael E Benros, Liselotte Petersen
BACKGROUND: Hospitalizations for infections have been associated with subsequent decreased cognitive ability, but it is uncertain if childhood infections influence subsequent scholastic achievement (SA). We aimed to estimate the association between infections during childhood and SA. METHODS: Nationwide prospective cohort-study including 598,553 children born in Denmark between 1987 and 1997 and their parents. Exposures were hospitalization for infections and treatment with anti-infective agents...
December 22, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29273662/healthcare-to-parents-of-young-terrorism-survivors-a-registry-based-study-in-norway
#17
Jon Magnus Haga, Siri Thoresen, Lise Eilin Stene, Tore Wentzel-Larsen, Grete Dyb
OBJECTIVES: To assess changes in parents' short-term and long-term primary and specialised healthcare consumption following a terrorist attack threatening the lives of their children. DESIGN: Registry-based study comparing parental healthcare service consumption in the 3 years before and the 3 years after a terrorist attack. SETTING: The aftermath of the Utøya terrorist attack. The regular, publicly funded, universal healthcare system in Norway...
December 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/29260765/-somatic-pathology-as-a-negative-factor-of-enamel-resistance-of-the-permanent-teeth
#18
N I Smolyar, N L Chukhray
According to a survey of 292 children of 7, 12 and 15 years from Lviv it was assessed the resistance of enamel of permanent teeth by various somatic diseases. Caries susceptible enamel was most frequently revealed in children with gastrointestinal diseases and allergic diseases (66.67±12.17 and 83.33±10.76%, respectively), as well as endocrine disorders (55.00±7.87%). In children with musculoskeletal system diseases caries resistant and conditionally caries resistant enamel (23.08±8.26 and 26.92±8.70%) was seen two times less than caries susceptible enamel (50...
2017: Stomatologii︠a︡
https://www.readbyqxmd.com/read/29258295/therapeutic-targeting-of-ependymoma-as-informed-by-oncogenic-enhancer-profiling
#19
Stephen C Mack, Kristian W Pajtler, Lukas Chavez, Konstantin Okonechnikov, Kelsey C Bertrand, Xiuxing Wang, Serap Erkek, Alexander Federation, Anne Song, Christine Lee, Xin Wang, Laura McDonald, James J Morrow, Alina Saiakhova, Patrick Sin-Chan, Qiulian Wu, Kulandaimanuvel Antony Michaelraj, Tyler E Miller, Christopher G Hubert, Marina Ryzhova, Livia Garzia, Laura Donovan, Stephen Dombrowski, Daniel C Factor, Betty Luu, Claudia L L Valentim, Ryan C Gimple, Andrew Morton, Leo Kim, Briana C Prager, John J Y Lee, Xiaochong Wu, Jennifer Zuccaro, Yuan Thompson, Borja L Holgado, Jüri Reimand, Susan Q Ke, Adam Tropper, Sisi Lai, Senthuran Vijayarajah, Sylvia Doan, Vaidehi Mahadev, Ana Fernandez Miñan, Susanne N Gröbner, Matthias Lienhard, Marc Zapatka, Zhiqin Huang, Kenneth D Aldape, Angel M Carcaboso, Peter J Houghton, Stephen T Keir, Till Milde, Hendrik Witt, Yan Li, Chao-Jun Li, Xiu-Wu Bian, David T W Jones, Ian Scott, Sheila K Singh, Annie Huang, Peter B Dirks, Eric Bouffet, James E Bradner, Vijay Ramaswamy, Nada Jabado, James T Rutka, Paul A Northcott, Mathieu Lupien, Peter Lichter, Andrey Korshunov, Peter C Scacheri, Stefan M Pfister, Marcel Kool, Michael D Taylor, Jeremy N Rich
Genomic sequencing has driven precision-based oncology therapy; however, the genetic drivers of many malignancies remain unknown or non-targetable, so alternative approaches to the identification of therapeutic leads are necessary. Ependymomas are chemotherapy-resistant brain tumours, which, despite genomic sequencing, lack effective molecular targets. Intracranial ependymomas are segregated on the basis of anatomical location (supratentorial region or posterior fossa) and further divided into distinct molecular subgroups that reflect differences in the age of onset, gender predominance and response to therapy...
December 20, 2017: Nature
https://www.readbyqxmd.com/read/29246335/somatic-development-in-children-with-congenital-heart-defects
#20
MULTICENTER STUDY
Martin Poryo, Laura Antonia Paes, Thomas Pickardt, Ulrike M M Bauer, Sascha Meyer, Stefan Wagenpfeil, Hashim Abdul-Khaliq
OBJECTIVES: Somatic development is impaired in children with congenital heart defects (CHDs), and head circumference seems to be a strong predictor of neurodevelopmental prognosis. The aim of this study was to generate up-to-date reference values for the somatic development (head circumference, body weight, and length/height) of children with CHDs. STUDY DESIGN: Our study population consisted of all patients included in the PAN study (Prävalenz angeborener Herzfehler bei Neugeborenen in Deutschland), which was conducted prospectively over a 3-year study period by the Competence Network for Congenital Heart Defects...
January 2018: Journal of Pediatrics
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