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https://www.readbyqxmd.com/read/28429249/are-there-moral-differences-between-maternal-spindle-transfer-and-pronuclear-transfer
#1
César Palacios-González
This paper examines whether there are moral differences between the mitochondrial replacement techniques that have been recently developed in order to help women afflicted by mitochondrial DNA diseases to have genetically related children absent such conditions: maternal spindle transfer (MST) and pronuclear transfer (PNT). Firstly, it examines whether there is a moral difference between MST and PNT in terms of the divide between somatic interventions and germline interventions. Secondly, it considers whether PNT and MST are morally distinct under a therapy/creation optic...
April 20, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28424633/psychopathological-aspects-in-childhood-hematopoietic-stem-cell-transplantation-hsct-the-perception-of-parents-and-adolescents
#2
Silvia Zanato, Annalisa Traverso, Marta Tremolada, Francesco Sinatora, Alessio Porreca, Giorgio Pozziani, Nicoletta Di Florio, Fabia Capello, Antonio Marzollo, Manuela Tumino, Chiara Cattelan, Giuseppe Basso, Chiara Messina
Background: Data about psychosocial sequelae of childhood Hematopoietic Stem Cell Transplantation (HSCT) are limited and the association with a specific donor type or other medical factors is largely unknown (Chang et al., 2012). The aim of the present study was to compare the psychological aspects of pediatric HSCT survivors with healthy peers. A secondary aim was to detect whether parents and children differed in the perception of mental health status. The influence of medical factors on psychological status was also examined...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28416243/psychological-interventions-for-children-with-functional-somatic-symptoms-a-systematic-review-and-meta-analysis
#3
Irma J Bonvanie, Karen H Kallesøe, Karin A M Janssens, Andreas Schröder, Judith G M Rosmalen, Charlotte U Rask
OBJECTIVE: To analyze the effectiveness of psychological treatments on symptom load and associated disability in children with functional somatic symptoms, and to explore potential moderators of effects. STUDY DESIGN: Cochrane, PubMed, PsycINFO, EMBASE, and CINAHL were searched for randomized controlled trials published in peer-reviewed journals. Randomized controlled trials studying the effect of a psychological treatment on symptom load and disability in children with functional somatic symptoms were selected...
April 14, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28411282/genomic-architecture-and-treatment-outcome-in-pediatric-acute-myeloid-leukemia-a-children-s-oncology-group-report
#4
Marijana Vujkovic, Edward F Attiyeh, Rhonda E Ries, Elizabeth K Goodman, Yang Ding, Marko Kavcic, Todd A Alonzo, Yi-Cheng Wang, Robert B Gerbing, Lillian Sung, Betsy Hirsch, Susana Raimondi, Alan S Gamis, Soheil Meshinchi, Richard Aplenc
Childhood acute myeloid leukemia (AML) is frequently characterized by chromosomal instability. Approximately 50% of patients have disease relapse, and novel prognostic markers are needed to improve risk stratification. We performed genome-wide genotyping in 446 pediatric patients with de novo AML enrolled on Children's Oncology Group (COG) studies, AAML0531 (NCT01407757), AAML03P1 (NCT00070174), and CCG2961 (NCT00003790). Affymetrix and Illumina Omni 2.5 platforms were used to evaluate copy number alterations (CNAs) and determine their associations with treatment outcome...
April 14, 2017: Blood
https://www.readbyqxmd.com/read/28407156/enhancing-care-models-to-capture-psychological-trauma
#5
Mary Suzanne Balch, Jo Loomis
Toxic levels of stress in childhood are an ongoing threat to public health. Traumatized children have special needs for health care to address their developmental, mental health, and medical problems, and mitigate risk for long-term health problems. Developmental trauma leads to increased use of medical, social, correctional, and mental health services. Longitudinal and retrospective studies link childhood trauma and adversity to academic difficulties, poor health, and low economic productivity in adulthood...
April 1, 2017: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/28401773/psychometric-properties-of-the-ndetei-othieno-kathuku-nok-scale-a-mental-health-assessment-tool-for-an-african-setting
#6
Christy A Denckla, David M Ndetei, Victoria N Mutiso, Christine W Musyimi, Abednego M Musau, Eric S Nandoya, Kelly K Anderson, Snezana Milanovic, David Henderson, Kwame McKenzie
BACKGROUND: Research suggests that psychiatric conditions in children and adolescents are highly debilitating, with sparse resources for assessment and treatment in low- and middle-income countries (LMICs). OBJECTIVES: The primary aim of this study was to evaluate the reliability, validity, and latent factor structure of an ethnographically-grounded assessment instrument for detecting common mental health complaints among rural Kenyan children and adolescents. METHODS: The Ndetei-Othieno-Kathuku Scale (NOK) was delivered to 2 282 children aged 10 to 18 years old...
April 12, 2017: Journal of Child and Adolescent Mental Health
https://www.readbyqxmd.com/read/28401334/h3-idh-wild-type-pediatric-glioblastoma-is-comprised-of-molecularly-and-prognostically-distinct-subtypes-with-associated-oncogenic-drivers
#7
Andrey Korshunov, Daniel Schrimpf, Marina Ryzhova, Dominik Sturm, Lukas Chavez, Volker Hovestadt, Tanvi Sharma, Antje Habel, Anna Burford, Chris Jones, Olga Zheludkova, Ella Kumirova, Christof M Kramm, Andrey Golanov, David Capper, Andreas von Deimling, Stefan M Pfister, David T W Jones
Pediatric glioblastoma (pedGBM) is an extremely aggressive pediatric brain tumor, accounting for ~6% of all central nervous system neoplasms in children. Approximately half of pedGBM harbor recurrent somatic mutations in histone 3 variants or, infrequently, IDH1/2. The remaining subset of pedGBM is highly heterogeneous, and displays a variety of genomic and epigenetic features. In the current study, we aimed to further stratify an H3-/IDH-wild type (wt) pedGBM cohort assessed through genome-wide molecular profiling...
April 11, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28401103/characterization-of-clonal-immunoglobulin-heavy-igh-v-d-j-gene-rearrangements-and-the-complementarity-determining-region-in-south-indian-patients-with-precursor-b-cell-acute-lymphoblastic-leukemia
#8
Natarajan Sudhakar, Thangarajan Rajkumar, Kamalalayam Raghavan Rajalekshmy, Nirmala Karunakaran Nancy
BACKGROUND: This study characterized clonal IG heavy V-D-J (IGH) gene rearrangements in South Indian patients with precursor B-cell acute lymphoblastic leukemia (precursor B-ALL) and identified age-related predominance in VDJ rearrangements. METHODS: IGH rearrangements were studied in 50 precursor B-ALL cases (common ALL=37, pre-B ALL=10, pro-B ALL=3) by polymerase chain reaction (PCR) heteroduplex analysis. Twenty randomly selected clonal IGH rearrangement sequences were analyzed using the IMGT/V-QUEST tool...
March 2017: Blood Research
https://www.readbyqxmd.com/read/28395376/-rehabilitation-of-children-and-adolescents-with-chronic-skin-diseases
#9
R Stachow, M Küppers-Chinnow, S Scheewe
Chronic skin diseases are a common indication for inpatient rehabilitation in children and adolescents. Atopic eczema and psoriasis play the most important role. But other rare congenital dermatoses such as ichthyoses or epidermolysis bullosa can also be rehabilitated. Patients with skin diseases are often considerably stigmatized and report a limited quality of life and participation. The somatic and psychosocial development of the children is also often severely affected by severe forms of the diseases. The concept of inpatient rehabilitation is, on the one hand, the development of an individually adapted topical therapy plan, which often follows a step concept and is adapted to the severity of the skin symptoms...
April 2017: Die Rehabilitation
https://www.readbyqxmd.com/read/28387946/three-sides-to-a-story-child-parent-and-nurse-perspectives-on-the-child-s-experience-during-hematopoietic-stem-cell-transplantation
#10
Christina K Ullrich, Angie Mae Rodday, Kristin M Bingen, Mary Jo Kupst, Sunita K Patel, Karen L Syrjala, Lynnette L Harris, Christopher J Recklitis, Grace Chang, Eva C Guinan, Norma Terrin, Hocine Tighiouart, Sean Phipps, Susan K Parsons
BACKGROUND: The experience of children undergoing hematopoietic stem cell transplantation (HSCT), including the ways in which different participants (ie, children, parents, and nurses) contribute to the overall picture of a child's experience, is poorly characterized. This study evaluated parent, child, and nurse perspectives on the experience of children during HSCT and factors contributing to interrater differences. METHODS: Participants were enrolled in a multicenter, prospective study evaluating child and parent health-related quality of life over the year after HSCT...
April 7, 2017: Cancer
https://www.readbyqxmd.com/read/28386950/gastrointestinal-disorders-in-curry-jones-syndrome-clinical-and-molecular-insights-from-an-affected-newborn
#11
Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS...
April 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28381331/social-and-health-determinants-of-adolescent-s-wellbeing-in-jordan-implications-for-policy-and-practice
#12
Diana H Arabiat, Abeer Shaheen, Ommaya Nassar, Mohammad Saleh, Ayman Mansour
PURPOSE: This study examined the extent to which health related aspect, health outcome, behaviour outcomes and social connectedness may predict adolescents' wellbeing at the schools of Jordan. METHODS: Using a two-stage cluster sampling technique 1166 adolescents completed the Health Behaviour of School Children survey. RESULTS: Stepwise Regression Analysis showed that the adolescents' wellbeing was predicted by academic achievements, bullying behaviour, eating habits, psycho-somatization, parent support and ease of communication with parents...
April 2, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28375941/two-tumors-in-1-what-should-be-the-therapeutic-target-pediatric-germ-cell-tumor-with-somatic-malignant-transformation
#13
Cecile Faure Conter, Brice Fresneau, Estelle Thebaud, Amandine Bertrand, Frederique Dijoud, Angelique Rome, Cecile Dumesnil, Marie Pierre Castex, Anguella Ghanem, Daniel Orbach
BACKGROUND: Germ cell tumors with somatic malignant transformation (GCT with SMT) are rare in children and poorly described. Data are missing to determine if therapies should target the GCT, the SMT compound, or both simultaneously. PATIENTS AND METHODS: A retrospective national study was conducted in the Société Française des cancers de l'Enfant (SFCE) Centers. Medical records from patients aged 0 to 18 years diagnosed with GCT with SMT between 2000 and 2015 were analyzed...
April 3, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28374655/childhood-maltreatment-in-children-born-of-occupation-after-wwii-in-germany-and-its-association-with-mental-disorders
#14
Heide Glaesmer, Philipp Kuwert, Elmar Braehler, Marie Kaiser
BACKGROUND: Children born of war are a common phenomenon of conflict. In the aftermath of World War II, more than 200,000 German occupation children (GOC) were fathered by occupation soldiers and born to local women. GOC often grew up under difficult conditions and showed high prevalence rates of mental disorders even decades later. METHODS: Experiences of childhood maltreatment and their association with Posttraumatic Stress Disorder (PTSD), depression, and somatization in GOC (N = 146) are investigated and compared with a representative birth-cohort-matched sample (BCMS) from the German general population (N = 920)...
April 4, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28371920/diffuse-intrinsic-pontine-gliomas-current-management-and-new-biologic-insights-is-there-a-glimmer-of-hope
#15
Kenneth J Cohen, Nada Jabado, Jacques Grill
Diffuse intrinsic pontine glioma (DIPG) has proven to be one of the most challenging of all pediatric cancers. Owing to a historical reticence to obtain tumor tissue for study, and based on an erroneous assumption that the biology of DIPG would mirror that of supratentorial high-grade astrocytomas, innumerable studies have been undertaken-all of which have had a negligible impact on the natural history of this disease. More recently, improvements in neurosurgical techniques have allowed for the safe upfront biopsy of DIPG, which, together with a wider use of autopsy tissue, has led to an evolving understanding of the biology of this tumor...
March 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28357155/analytical-and-clinical-validity-study-of-firststepdx-plus-a-chromosomal-microarray-optimized-for-patients-with-neurodevelopmental-conditions
#16
Charles Hensel, Rena Vanzo, Megan Martin, Sean Dixon, Christophe Lambert, Brynn Levy, Lesa Nelson, Andy Peiffer, Karen S Ho, Patricia Rushton, Moises Serrano, Sarah South, Kenneth Ward, Edward Wassman
INTRODUCTION: Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology. ARRAY DESIGN: To optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome microarray, FirstStep(Dx) PLUS (FSDX). A set of 88,435 custom probes was added to the Affymetrix CytoScanHD platform targeting genomic regions strongly associated with these conditions...
February 27, 2017: PLoS Currents
https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#17
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28324014/variation-in-the-insulin-like-growth-factor-1-gene-in-primates
#18
Peter Rotwein
Insulin-like growth factor 1 (IGF1) is a multifunctional peptide that is involved in a wide range of physiological and pathophysiological 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 through a gene expression pathway involving inducible binding of the STAT5b transcription factor to dispersed enhancer elements...
April 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28318335/the-cognitive-affective-and-somatic-empathy-scales-cases-for-children
#19
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
#20
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
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