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https://www.readbyqxmd.com/read/28534022/mental-health-problems-in-parents-of-children-with-congenital-heart-disease
#1
REVIEW
Gerasimos A Kolaitis, Maya G Meentken, Elisabeth M W J Utens
This review will provide a concise description of mental health problems in parents of children with a (non-syndromic) congenital heart disease (CHD) during different stressful periods. Predictors of these problems and also implications for clinical practice will be mentioned. Having a child with CHD can be very stressful for parents, who have to face overwhelming emotions and also extra physical, financial, and other practical challenges. Parental distress has been reported in 30-80% of parents and appears not to be related to severity of CHD...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28525381/the-cell-of-origin-dictates-the-temporal-course-of-neurofibromatosis-1-nf1-low-grade-glioma-formation
#2
Anne C Solga, Joseph A Toonen, Yuan Pan, Patrick J Cimino, Yu Ma, Guillaume A Castillon, Scott M Gianino, Mark H Ellisman, Da Yong Lee, David H Gutmann
Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs). Since many OPGs occur in the context of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome, we have previously employed Nf1 genetically-engineered mouse (GEM) strains to study the pathogenesis of these low-grade glial neoplasms. In the light of the finding that human and mouse low-grade gliomas are composed of Olig2+ cells and that Olig2+ oligodendrocyte precursor cells (OPCs) give rise to murine high-grade gliomas, we sought to determine whether Olig2+ OPCs could be tumor-initiating cells for Nf1 optic glioma...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28525374/the-effect-of-rapamycin-nvp-bez235-aspirin-and-metformin-on-pi3k-akt-mtor-signaling-pathway-of-pik3ca-related-overgrowth-spectrum-pros
#3
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata, Naoki Hanada, Tsuyoshi Morishita, Seiji Mizuno, Nobuaki Wakamatsu
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3CA, was established as PIK3CA-related overgrowth spectrum (PROS). In this study, we report a Japanese female diagnosed with PROS, who presented with hyperplasia of the lower extremities, macrodactyly, multiple lipomatosis, and sparse hair. Sequencing and mutant allele frequency analysis of PIK3CA from affected tissues revealed that the patient had a heterozygous mosaic mutation (c...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28525196/-burnout-syndrome-among-generalist-medical-doctors-of-douala-region-cameroon-can-physical-activities-be-a-protective-factor
#4
S H Mandengue, L J Owona Manga, M Y Lobè-Tanga, P B Assomo-Ndemba, S Nsongan-Bahebege, C Bika-Lélé, F Ngo Sack, A K Njamnshi, S L Etoundi-Ngoa
BACKGROUND: This study aimed to evaluate and document the importance of Burnout syndrome among generalist medical doctors (GMD) since no investigation have been carried in Cameroon. METHODS: Cross-sectional study including 85 GMD using a self-administered questionnaire on socio-demographic characteristics, socioprofessional conditions, Maslach Burnout Inventory - Human Services Survey (MBI-HSS) to evaluate burnout, and Ricci-Gagnon physical activities level metrics...
2017: Revue Médicale de Bruxelles
https://www.readbyqxmd.com/read/28523733/the-development-of-cognitive-empathy-and-concern-in-preschool-children-a-behavioral-neuroscience-investigation
#5
Jean Decety, Kimberly L Meidenbauer, Jason M Cowell
This developmental neuroscience study examined the electrophysiological responses (EEG and ERPs) associated with perspective taking and empathic concern in preschool children, as well as their relation to parental empathy dispositions and children's own prosocial behavior. Consistent with a body of previous studies using stimuli depicting somatic pain in both children and adults, larger early (~200 ms) ERPs were identified when perceiving painful versus neutral stimuli. In the slow wave window (~800 ms), a significant interaction of empathy condition and stimulus type was driven by a greater difference between painful and neutral images in the empathic concern condition...
May 18, 2017: Developmental Science
https://www.readbyqxmd.com/read/28515774/complexity-and-algorithms-for-copy-number-evolution-problems
#6
Mohammed El-Kebir, Benjamin J Raphael, Ron Shamir, Roded Sharan, Simone Zaccaria, Meirav Zehavi, Ron Zeira
BACKGROUND: Cancer is an evolutionary process characterized by the accumulation of somatic mutations in a population of cells that form a tumor. One frequent type of mutations is copy number aberrations, which alter the number of copies of genomic regions. The number of copies of each position along a chromosome constitutes the chromosome's copy-number profile. Understanding how such profiles evolve in cancer can assist in both diagnosis and prognosis. RESULTS: We model the evolution of a tumor by segmental deletions and amplifications, and gauge distance from profile [Formula: see text] to [Formula: see text] by the minimum number of events needed to transform [Formula: see text] into [Formula: see text]...
2017: Algorithms for Molecular Biology: AMB
https://www.readbyqxmd.com/read/28512190/hematopoietic-origin-of-langerhans-cell-histiocytosis-and-erdheim-chester-disease-in-adults
#7
Paul Milne, Venetia Bigley, Chris M Bacon, Antoine Néel, Naomi McGovern, Simon Bomken, Muzlifah Haniffa, Eli L Diamond, Benjamin H Durham, Johannes Visser, David Hunt, Harsha Gunawardena, Mac Macheta, Kenneth L McClain, Carl Allen, Omar Abdel-Wahab, Matthew Collin
Langerhans cell histiocytosis (LCH) and Erdheim Chester Disease (ECD) are rare histiocytic disorders induced by somatic mutation of MAP kinase pathway genes. BRAF(V600E) mutation is the most common mutation in both conditions and also occurs in the hematopoietic neoplasm hairy cell leukemia (HCL). It is not known if adult LCH or ECD arise from hematopoietic stem cells (HSC) nor which potential blood borne precursors lead to the formation of histiocytic lesions. In this study, BRAF V600E allele-specific PCR was used to map the neoplastic clone in 20 adults with LCH ECD and HCL...
May 16, 2017: Blood
https://www.readbyqxmd.com/read/28511584/a-pilot-intervention-designed-to-address-behavioral-factors-that-place-overweight-obese-young-children-at-risk-for-later-life-obesity
#8
Leigh Small, Leroy Thacker, Heather Aldrich, Darya Bonds-McClain, Bernadette Melnyk
The purpose of this pilot randomized controlled trial (RCT) was to intervene with parents of overweight/obese 4- to 8-year-old children to improve child internalizing and externalizing behaviors. Parent-child dyads ( N = 60) were randomly assigned to treatment or comparison conditions. Parents attended four intervention sessions at their child's primary health care office over 3 months. Child behaviors were assessed at 0, 3, 6, and 12 months post intervention. Parental beliefs in their skills/abilities increased in the experimental group parents, but there was no statistical difference between groups at any time...
May 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28508604/for-debate-growth-hormone-treatment-of-infants-born-small-for-gestational-age-should-be-started-at-or-before-the-first-year-of-age
#9
Zvi Laron, Tamar Laron-Kenet, Gil Klinger
Children born small for gestational age without early catch-up of somatic growth and head circumference subsequently remain short and suffer from various degrees of neurocognitive and psychological impairment. Based upon the role of growth hormone (GH) and insulin-like growth factor-I on early brain growth and maturation, we propose that GH treatment of these infants be instituted prior to their 2nd birthday.
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28498917/the-new-genomics-what-molecular-databases-can-tell-us-about-human-population-variation-and-endocrine-disease
#10
Peter Rotwein
Major recent advances in genetics and genomics present unique opportunities for enhancing our understanding of human physiology and disease predisposition. Here I demonstrate how analysis of genomic information can provide new understanding of endocrine systems, using the human growth hormone (GH) signaling pathway as an illustrative example. GH is essential for normal postnatal growth in children, and plays important roles in other biological processes throughout life. GH actions are mediated by the GH receptor, primarily via the JAK2 protein tyrosine kinase and the STAT5B transcription factor, and inactivating mutations in this pathway all lead to impaired somatic growth...
May 11, 2017: Endocrinology
https://www.readbyqxmd.com/read/28494505/genome-wide-analysis-of-somatic-copy-number-alterations-and-chromosomal-breakages-in-osteosarcoma
#11
Jan Smida, Hongen Xu, Yanping Zhang, Daniel Baumhoer, Sebastian Ribi, Michal Kovac, Irene von Luettichau, Stefan Bielack, Valerie B O'Leary, Christine Leib-Mösch, Dmitrij Frishman, Michaela Nathrath
Osteosarcoma (OS) is the most common primary malignant bone tumor in children and adolescents. It is characterized by highly complex karyotypes with structural and numerical chromosomal alterations. The observed OS-specific characteristics in localization and frequencies of chromosomal breakages strongly implicate a specific set of responsible driver genes or a specific mechanism of fragility induction. In this study, a comprehensive assessment of somatic copy number alterations (SCNAs) was performed in 160 OS samples using whole-genome CytoScan High Density arrays (Affymetrix, Santa Clara, CA)...
May 11, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28486439/branched-chain-and-aromatic-amino-acids-in-relation-to-behavioral-problems-among-young-inuit-from-nunavik-canada-a-cohort-study
#12
Audray St-Jean, Salma Meziou, Cynthia Roy, Pierre Ayotte, Gina Muckle, Michel Lucas
BACKGROUNDObesity and insulin resistance are linked with mood disorders, and elevated concentrations of branched-chain (BCAAs) and aromatic amino acids (AAAs). Our study aimed to prospectively assess the relationship between childhood plasma BCAAs and AAAs and behavioral problems in young Inuit from Nunavik.METHODSWe analyzed data on 181 children (mean age 11.4 years at baseline) involved in the Nunavik Child Development Study. Plasma BCAA and AAA concentrations were measured in childhood (2005-2010). BCAA/AAA tertiles - the ratio of total BCAAs to AAAs-were considered as a surrogate categorical independent variable...
May 9, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28478841/somatic-mutation-a-cause-of-biliary-atresia-a-hypothesis
#13
Alexandre Fabre, Céline Roman, Bertrand Roquelaure
Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary atresia. This is a rare disease with a stable incidence over the years although with sizeable ethnic variations. This stability suggests that environmental factors have in fact only a slight influence. During the search for etiologies, twin studies have often helped disentangle the genetic from the environmental. For this condition, twin studies have mainly demonstrated a lack of concordance between twins (either monozygotic or dizygotic), ruling out Mendelian, infectious or toxic causes...
May 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28476187/early-age-acute-leukemia-revisiting-two-decades-of-the-brazilian-collaborative-study-group
#14
REVIEW
Maria S Pombo-de-Oliveira, Francianne Gomes Andrade
The understanding of leukemogenesis in early-age acute leukemia (EAL) has improved remarkably. Initiating somatic mutations detected in dried neonatal blood spots (DNBS) and in cord blood samples of affected children with leukemia have been proven to be acquired prenatally. However, to date, few epidemiological studies have been carried out exploring EAL that include infants and children 13-24 months of age at the diagnosis. Maternal exposure to transplacental DNA-damaging substances during pregnancy has been suggested to be a risk factor for EAL...
November 2016: Archives of Medical Research
https://www.readbyqxmd.com/read/28459608/the-influence-of-comorbid-asthma-on-the-severity-of-symptoms-in-children-with-attention-deficit-hyperactivity-disorder
#15
Adrienne P Borschuk, Casey Rodweller, Cynthia F Salorio
OBJECTIVE: The current study examined the association between asthma and attention-deficit hyperactivity disorder (ADHD) symptoms in a clinical pediatric sample. METHODS: Demographic and neuropsychological data for children with a billing diagnosis of ADHD were extracted from a clinical database. Families completed standard rating scales. Seventy-one patients with a co-morbid asthma diagnosis were identified and matched by age to a group of 71 patients with only ADHD...
May 1, 2017: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/28459165/gender-invariance-and-psychometric-properties-of-the-nonproductive-thoughts-questionnaire-for-children
#16
Natália Kocsel, Kata Mónok, Edina Szabó, Antony Morgan, Melinda Reinhardt, Róbert Urbán, Zsolt Demetrovics, Gyöngyi Kökönyei
Perseverative cognitions-rumination and worry-can contribute to mental and somatic health problems in adolescence. Girls usually report stronger rumination or worry than boys even in earlier years across the development age spectrum. Our aim was to test the gender invariance and psychometric properties of the Nonproductive Thoughts Questionnaire for Children (NPTQ-C). Study 1 involved 1,572 students (mean age = 15.39 years, SD = 2.26; 49% boy) recruited representatively from local schools. We applied confirmatory factor analysis (CFA) to test the measurement model of perseverative cognitions...
April 1, 2017: Assessment
https://www.readbyqxmd.com/read/28456909/patients-and-parents-views-regarding-supportive-care-in-childhood-cancer
#17
L J A Tenniglo, E A H Loeffen, L C M Kremer, A Font-Gonzalez, R L Mulder, A Postma, M C Naafs-Wilstra, M A Grootenhuis, M D van de Wetering, W J E Tissing
PURPOSE: Intensive therapies in pediatric malignancies increased survival rates but also occurrence of treatment-related morbidities. Therefore, supportive care fulfills an increasingly important role. In planning development of guidelines with incorporation of shared decision making, we noticed that little is known about the needs and preferences of patients and their parents. Our goals were therefore to investigate (1) which supportive care topics patients and parents regard as most important and (2) the preferred role they wish to fulfill in decision making...
April 29, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28452721/ilven-complete-remission-after-administration-of-topical-corticosteroid-case-review
#18
U Wollina, G Tchernev
Inflammatory linear verrucous epidermal nevus (ILVEN) is a relatively rare disorder with an onset at early age, consisting of pruritic linear papules and/or plaques and histologic features resembling psoriasis or lichenoid dermatitis. The disease is a version of mosaicism caused by somatic mutations. ILVEN belongs to the heterogeneous group of congenital hamartomas of embryonal ectodermal origin, as a variant of verrucous epidermal nevus, representing approximately 5% of all epidermal nevi, with predominance in females and with general therapeutic resistance...
February 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28450750/environmental-influences-on-ovarian-dysgenesis-developmental-windows-sensitive-to-chemical-exposures
#19
REVIEW
Hanna Katarina Lilith Johansson, Terje Svingen, Paul A Fowler, Anne Marie Vinggaard, Julie Boberg
A woman's reproductive health and ability to have children directly affect numerous aspects of her life, from personal well-being and socioeconomic standing, to morbidity and lifespan. In turn, reproductive health depends on the development of correctly functioning ovaries, a process that starts early during fetal life. Early disruption to ovarian programming can have long-lasting consequences, potentially manifesting as disease much later in adulthood. A growing body of evidence suggests that exposure to chemicals early in life, including endocrine-disrupting chemicals, can cause a range of disorders later in life, such as those described in the ovarian dysgenesis syndrome hypothesis...
April 28, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28450403/pathways-to-genetic-parenthood-for-same-sex-couples
#20
Timothy F Murphy
Researchers are pursuing various ways to synthesise human male and female gametes, which would be useful for people facing infertility. Some people are unable to conceive children with their partner because one of them is infertile in the sense of having an anatomical or physiological deficit. Other people-in same sex couples-may not be individually infertile but situationally infertile in relation to one another. Segers et al have described a pathway towards synthetic gametes that would rely on embryonic stem cells, rather than somatic cells...
April 27, 2017: Journal of Medical Ethics
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