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https://www.readbyqxmd.com/read/28324014/variation-in-the-insulin-like-growth-factor-1-gene-in-primates
#1
Peter Rotwein
Insulin-like growth factor 1 (IGF1) is a multifunctional peptide that is involved in a wide range of physiological and patho-physiological processes in many animal species, ranging from somatic growth in children to metabolism, and tissue regeneration and repair in adults. The IGF1 gene is under multifactorial regulation in the few species in which it has been studied, with major control being exerted by growth hormone (GH) through a gene expression pathway involving inducible binding of the STAT5b transcription factor to dispersed enhancer elements...
January 18, 2017: Endocrinology
https://www.readbyqxmd.com/read/28318335/the-cognitive-affective-and-somatic-empathy-scales-cases-for-children
#2
Adrian Raine, Frances R Chen
Although the assessment of empathy has moved from general empathy to differentiating between cognitive and affective empathy, no instruments have assessed somatic (motor) empathy, and none have separated positive from negative affect empathy. The main objective of this study was to develop a 30-item self-report cognitive, affective, and somatic empathy scale (CASES) with positive and negative affect components for use with children and adolescents. A community sample of 428 male and female 11-year-olds completed the CASES together with validity questionnaires and were assessed on IQ...
March 20, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28302745/current-status-and-future-potential-of-transcatheter-interventions-in-congenital-heart-disease
#3
Damien P Kenny, Ziyad M Hijazi
Percutaneous therapies for congenital heart disease have evolved rapidly in the past 3 decades. This has occurred despite limited investment from industry and support from regulatory bodies resulting in a lack of specific device development. Indeed, many devices remain off-label with a best-fit approach often required, spurning an innovative culture within the subspecialty, which had arguably laid the foundation for many of the current and evolving structural heart interventions. Challenges remain, not least encouraging device design focused on smaller infants and the inevitable consequences of somatic growth...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28297628/genetic-basis-of-acute-lymphoblastic-leukemia
#4
Ilaria Iacobucci, Charles G Mullighan
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, and despite cure rates exceeding 90% in children, it remains an important cause of morbidity and mortality in children and adults. The past decade has been marked by extraordinary advances into the genetic basis of leukemogenesis and treatment responsiveness in ALL. Both B-cell and T-cell ALL comprise multiple subtypes harboring distinct constellations of somatic structural DNA rearrangements and sequence mutations that commonly perturb lymphoid development, cytokine receptors, kinase and Ras signaling, tumor suppression, and chromatin modification...
March 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28297620/germline-genetic-predisposition-to-hematologic-malignancy
#5
Elissa Furutani, Akiko Shimamura
Development of hematologic malignancies is driven by mutations that may be somatic or germline. Availability of next-generation DNA sequencing technologies has facilitated the development of individualized diagnostic evaluations and tailored treatment strategies. Until now, such personalized medical approaches have largely centered on prognostic stratification and treatment strategies informed by acquired somatic mutations. The role of germline mutations in children and adults with hematologic malignancies was previously underappreciated...
March 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28293324/mother-father-differences-in-postnatal-psychological-distress-and-its-determinants-in-iran
#6
Hassan Mahmoodi, Farzaneh Golboni, Haidar Nadrian, Moradali Zareipour, Shayesteh Shirzadi, Reza Ghanei Gheshlagh
AIM: The aim of this study was to investigate the mother-father differences in Postnatal Psychological Distress (PPD) and its determinants among the parents with 8-weeks old children. MATERIALS AND METHODS: In this cross-sectional study, applying simple random sampling, 306 postnatal parents with an 8-weeks old infant in Saqqez County, Iran, were invited to answer the General Health Questionnaire-28 (GHQ-28) items through the telephone interview. Fifty-eight subjects declined to participate in the study (Response Rate = 81...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28278599/mediators-of-treatment-outcomes-for-anxious-children-and-adolescents-the-role-of-somatic-symptoms
#7
Amy E Hale, Golda S Ginsburg, Grace Chan, Philip C Kendall, James T McCracken, Dara Sakolsky, Boris Birmaher, Scott N Compton, Anne Marie Albano, John T Walkup
Cognitive behavioral therapy (CBT) and selective serotonin reuptake inhibitors are effective treatments for pediatric anxiety disorders. However, the mechanisms of these treatments are unknown. Previous research indicated that somatic symptoms are reduced following treatment, but it is unclear if their reductions are merely a consequence of treatment gains. This study examined reductions in somatic symptoms as a potential mediator of the relationship between treatment and anxiety outcomes. Participants were 488 anxious youth ages 7-17 (M = 10...
February 26, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28273428/mechanical-biochemical-and-dietary-determinants-of-the-functional-model-of-bone-development-of-the-radius-in-children-and-adolescents
#8
Izabella Atena Ludwa, Bareket Falk, Wendy E Ward, Kimberley L Gammage, Panagiota Klentrou
This study examined the degree to which various mechanical, biochemical and dietary factors are related to non-weight bearing bone properties in 172 healthy peri-pubertal children (11.7±2.0 years). Dominant radial speed of sound (rSOS) was measured by transaxial quantitative ultrasound at distal radius. Potential modulating factors included somatic maturity offset (years from age of peak height velocity), grip strength, forearm lean cross-sectional area (CSA), physical activity, nutritional intake and amino-terminal cross-linking propeptide (NTx), reflecting bone resorption...
March 8, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28270343/comprehensive-neuropsychological-evaluation-of-children-and-adolescents-with-sickle-cell-anemia-a-hospital-based-sample
#9
Samantha Nunes, Nayara Argollo, Marivania Mota, Camilo Vieira, Eduardo Pondé de Sena
BACKGROUND: Individuals with sickle cell anemia may suffer symptomatic or silent cerebral infarcts leading to neurocognitive complications. This study investigated the cognitive and intellectual performance of children and adolescents with sickle cell anemia. METHODS: The socioeconomic status, clinical aspects and behavioral profile of 15 young individuals with sickle cell anemia were evaluated. The Wechsler Intelligence Scale for Children, the Developmental Neuropsychological Assessment Test, and the Child Behavior Checklist were applied...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28260349/somatic-structural-variations-in-pediatric-brain-tumors-an-update
#10
Zhengwei Li, Qingzeng Sun, Yingchun Shi
Pediatrics brain tumours are the second most frequent malignancy in children, and the most common cause of cancer-related deaths in both the 0-14-year and the 15-24-year age group. Although, pediatrics high-grade glioma (pHGG) is a histologically similar tumour to that arising in adults, these are distinct biological diseases, differing in copy number profiles and driver genetic alterations. Recent sequencing initiatives have conclusively shown the existence of subgroups of HGG marked by distinct driver mutations, which are significantly enriched in young children (H3F3A K27M), teenagers and young adults (H3F3A G34R/V), and middle- aged adults (IDH1/2)...
March 3, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28258341/low-near-infrared-spectroscopic-somatic-oxygen-saturation-at-admission-is-associated-with-need-for-lifesaving-interventions-among-unplanned-admissions-to-the-pediatric-intensive-care-unit
#11
Binod Balakrishnan, Mahua Dasgupta, Kim Gajewski, Raymond G Hoffmann, Pippa M Simpson, Peter L Havens, Sheila J Hanson
To investigate the association between low near infrared spectroscopy (NIRS) somatic oxygen saturation (<70%) at admission and the need for lifesaving interventions (LSI) in the initial 24 h of a PICU admission. Retrospective chart review of all unplanned admissions to the pediatric intensive care unit (PICU) with NIRS somatic oxygen saturation data available within 4 h of admission, excluding admissions with a cardiac diagnosis. LSI data were collected for the first 24 h after admission. Hemodynamic parameters, laboratory values, illness severity scores and diagnoses were collected...
March 3, 2017: Journal of Clinical Monitoring and Computing
https://www.readbyqxmd.com/read/28256570/recurrent-bcor-internal-tandem-duplication-and-bcor-or-bcl6-expression-distinguish-primitive-myxoid-mesenchymal-tumor-of-infancy-from-congenital-infantile-fibrosarcoma
#12
Teresa Santiago, Michael R Clay, Sariah J Allen, Brent A Orr
Primitive myxoid mesenchymal tumor of infancy is a rare sarcoma that preferentially affects infants. It can be locally aggressive and rarely metastasizes, but the long-term outcome of children with this tumor is mostly unknown. Histologically, it is characterized by primitive cells with abundant myxoid stroma. Internal tandem duplication of B-cell CLL/lymphoma 6 (BCL6)-interacting co-repressor (BCOR) exon 15 has recently been described in clear cell sarcoma of kidney, central nervous system high-grade neuroepithelial tumor with BCOR alteration, and primitive myxoid mesenchymal tumor of infancy...
March 3, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28252630/-pharmacoepidemiological-study-of-the-course-of-influenza-and-other-acute-respiratory-viral-infections-in-risk-groups
#13
V A Bulgakova, A A Poromov, A I Grekova, N Yu Pshenichnaya, E P Selkova, N I Lvov, I A Leneva, I V Shestakova, V V Maleev
AIM: To identify risk factors (RFs) for the development of bacterial complications and the prolonged course of influenza and other acute respiratory viral infections (ARVIs) among inpatients treated in Russian healthcare facilities in the post-pandemic period; to determine the clinical presentation of the disease (flu-like syndrome) in risk-group people and to evaluate the efficacy of antiviral therapy with arbidol (umifenovir). MATERIAL AND METHODS: The investigators retrospectively analyzed randomly selected medical records of inpatients with influenza and other ARVI in 88 hospitals from 50 regions of the Russian Federation: those of 3532 and 1755 patients in the 2010-2011 and 2014-2015 seasons, respectively, by applying parametric and nonparametric statistical methods...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28245953/-well-being-in-adulthood-of-patients-with-chronic-conditions-in-childhood-the-gedepac-2-questionnaire
#14
H Mellerio, A Dumas, S Guilmin-Crépon, C Loirat, C Lévy-Marchal, V Audard, F de Vathaire, C Alberti
BACKGROUND: In France, chronic diseases affect 3 million children. In children with chronic conditions, long-term somatic outcome has been well described, but little is known about the psychosocial aspects of well-being. METHODS: Our aim was to build a self-administered questionnaire of global well-being in adults who had a chronic disease since or during childhood using a multidimensional and nonspecific approach. The questionnaire was constructed by a multidisciplinary group (epidemiologists, clinicians, sociologist, statistician)...
February 25, 2017: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/28235832/one-thousand-somatic-snvs-per-skin-fibroblast-cell-set-baseline-of-mosaic-mutational-load-with-patterns-that-suggest-proliferative-origin
#15
Alexej Abyzov, Livia Tomasini, Bo Zhou, Nikolaos Vasmatzis, Gianfilippo Coppola, Mariangela Amenduni, Reenal Pattni, Michael Wilson, Mark Gerstein, Sherman Weissman, Alexander E Urban, Flora M Vaccarino
Few studies have been conducted to understand post-zygotic accumulation of mutations in cells of the healthy human body. We reprogrammed 32 skin fibroblast cells from families of donors into human induced pluripotent stem cell (hiPSC) lines. The clonal nature of hiPSC lines allows a high-resolution analysis of the genomes of the founder fibroblast cells without being confounded by the artifacts of single-cell whole-genome amplification. We estimate that on average a fibroblast cell in children has 1035 mostly benign mosaic SNVs...
February 24, 2017: Genome Research
https://www.readbyqxmd.com/read/28230829/genetic-effects-in-children-exposed-in-prenatal-period-to-ionizing-radiation-after-the-chornobyl-nuclear-power-plant-accident
#16
Ye I Stepanova, V Yu Vdovenko, Zh A Misharina, V I Kolos, L P Mischenko
AIM: To study the genetic effects in children exposed to radiation in utero as a result of the Chornobyl nuclear power plant accident accounting the total radiation doses and equivalent radiation doses to the red bone marrow. MATERIALS AND METHODS: Incidence of minor developmental anomalies was studied in children exposed to radiation in utero (study group) and in the control group (1144 subjects surveyed in total). Cytogenetic tests using the method of differential G-banding of chromosomes were conducted in 60 children of both study and control groups (10-12-year-olds) and repeatedly in 39 adolescents (15-17-year-olds)...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28222777/identification-of-somatic-and-germ-line-dicer1-mutations-in-pleuropulmonary-blastoma-cystic-nephroma-and-rhabdomyosarcoma-tumors-within-a-dicer1-syndrome-pedigree
#17
Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S Pitiot, Marta G Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay, Milagros Balbín
BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples...
February 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28208214/pathogenesis-of-enuresis-towards-a-new-understanding
#18
REVIEW
Tryggve Nevéus
Enuresis was historically viewed as a primarily psychiatric disorder, but this understanding has changed dramatically since the end of the last century, when it became clear that somatic factors, such as nocturnal polyuria as a result of vasopressin deficiency, nocturnal detrusor overactivity and high arousal thresholds, all play a crucial role in enuresis pathogenesis. It has also become clear that enuresis is inherited in the majority of cases, although the correlation between genotype and enuretic phenotype is not straightforward...
February 16, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28202519/correlates-of-prenatal-and-early-life-tobacco-smoke-exposure-and-frequency-of-common-gene-deletions-in-childhood-acute-lymphoblastic-leukemia
#19
Adam J de Smith, Maneet Kaur, Semira Gonseth, Alyson A Endicott, Steve Selvin, Luoping Zhang, Ritu Roy, Xiaorong Shao, Helen M Hansen, Alice Y Kang, Kyle M Walsh, Gary V Dahl, Roberta McKean-Cowdin, Catherine Metayer, Joseph L Wiemels
Tobacco smoke exposure has been associated with risk of childhood acute lymphoblastic leukemia (ALL). Understanding the relationship between tobacco exposures and specific mutations may yield etiologic insights. We carried out a case-only analysis to explore whether prenatal and early-life tobacco smoke exposure influences the formation of leukemogenic genomic deletions. Somatic copy-number of 8 genes frequently deleted in ALL (CDKN2A, ETV6, IKZF1, PAX5, RB1, BTG1, PAR1 region, and EBF1) was assessed in 559 pre-treatment tumor samples from the California Childhood Leukemia Study...
February 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28194276/a-case-report-of-concurrent-embryonal-rhabdomyosarcoma-and-diffuse-large-b-cell-lymphoma-in-an-adult-without-identifiable-cancer-predisposition
#20
M D Mathias, M V Ortiz, H Magnan, S R Ambati, E K Slotkin, A J Chou, M F Walsh, K Offit, C Moskowitz, A Kentsis, L H Wexler
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma. Rhabdomyosarcoma, the most common soft tissue sarcoma of childhood. makes up less than 1% of solid malignancies in adults with around 400 new cases each year in the United States. They have not previously been reported concurrently. CASE PRESENTATION: A 37 year old woman presented with painful enlarging leg mass. Biopsy of the mass was consistent with embryonal rhabdomyosarcoma...
2017: Biomarker Research
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