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https://www.readbyqxmd.com/read/28335020/znhit3-is-defective-in-peho-syndrome-a-severe-encephalopathy-with-cerebellar-granule-neuron-loss
#1
Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K Lehtinen, Jorma J Palvimo, Anna-Elina Lehesjoki
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. ZNHIT3 encodes a nuclear zinc finger protein previously implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334147/variations-in-acetylcholinesterase-activity-within-human-cortical-pyramidal-neurons-across-age-and-cognitive-trajectories
#2
Monica Janeczek, Tamar Gefen, Mehrnoosh Samimi, Garam Kim, Sandra Weintraub, Eileen Bigio, Emily Rogalski, M-Marsel Mesulam, Changiz Geula
We described an extensive network of cortical pyramidal neurons in the human brain with abundant acetylcholinesterase (AChE) activity. Emergence of these neurons during childhood/adolescence, attainment of highest density in early adulthood, and virtual absence in other species led us to hypothesize involvement of AChE within these neurons in higher cortical functions. The current study quantified the density and staining intensity of these neurons using histochemical procedures. Few faintly stained AChE-positive cortical pyramidal neurons were observed in children/adolescents...
March 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333529/the-long-arm-of-childhood-preschool-associations-with-adolescent-health
#3
Terri J Sabol, Lindsay Till Hoyt
The current study examines the extent to which participation in preschool at age 4 is associated with blood pressure, body mass index, and awakening cortisol at age 15. We capitalize on data from the National Institute of Child Health and Human Development Study of Early Child Care and Youth Development to examine differences in adolescent health among children who attended preschool, parental care, or home-based care at age 4 (n = 742). Using quasi-experimental methods, we found that preschool participation was associated with multiple positive health outcomes in adolescence...
April 2017: Developmental Psychology
https://www.readbyqxmd.com/read/28333284/revisiting-the-mutant-prevention-concentration-to-guide-dosing-in-childhood-tuberculosis
#4
Devan Jaganath, H Simon Schaaf, Peter R Donald
The mutant prevention concentration (MPC) is a well-known concept in the chemotherapy of many bacterial infections, but is seldom considered in relation to tuberculosis (TB) treatment, as the required concentrations are generally viewed as unachievable without undue toxicity. Early studies revealed single mutations conferring high MICs of first- and second-line anti-TB agents; however, the growing application of genomics and quantitative drug susceptibility testing in TB suggests a wide range of MICs often determined by specific mutations and strain type...
March 9, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28333130/age-of-complementary-foods-introduction-and-risk-of-anemia-in-children-aged-4-6-years-a-prospective-birth-cohort-in-china
#5
Fenglei Wang, Huijuan Liu, Yi Wan, Jing Li, Yu Chen, Jusheng Zheng, Tao Huang, Duo Li
Age of complementary foods introduction is associated with childhood anemia, but the ideal age for the introduction of complementary foods to infants is a continuing topic of debate. We examined the longitudinal association between complementary foods introduction age and risk of anemia in 18,446 children from the Jiaxing Birth Cohort, who had detailed complementary feeding records at 3 and 6 months of age and had hemoglobin concentrations measured at 4-6 years. Early introduction of complementary foods at 3-6 months of age was significantly associated with a higher risk of anemia (odds ratio = 1...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332441/changes-in-carotid-artery-intima-media-thickness-during-the-cardiac-cycle-a-comparative-study-in-early-childhood-mid-childhood-and-adulthood
#6
Kuna Rueb, Jonathan Mynard, Richard Liu, Melissa Wake, Peter Vuillermin, Anne-Louise Ponsonby, Diana Zannino, David P Burgner
BACKGROUND: Carotid intima-media thickness (CIMT), an ultrasonographic marker of cardiovascular risk, is increasingly used in adults and children. The choice of specific images used to quantify CIMT from a cine sequence is often based on image quality rather than on a consistent point in the cardiac cycle. This methodological study quantified the imprecision that may be introduced by variation of CIMT during the cardiac cycle. PATIENTS AND METHODS: Data from four-year-olds, 11 to 12-year-olds, and adults (n=30 each age group) were selected retrospectively from two population-derived studies...
March 23, 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28331499/qualitative-reflections-casa-s-trauma-and-attachment-group-tag-program-for-youth-who-have-experienced-early-developmental-trauma
#7
Chandra K Ashton, Anna O'Brien-Langer, Karin Olson, Peter H Silverstone
OBJECTIVE: We demonstrated previously that the Trauma and Attachment Group (TAG) program for youth in middle childhood significantly improved caregiver/child attachment relationships, reduced children's symptoms of attachment trauma, and increased the caregiver's ability for self-reflection. Here we examine the perspectives of both those administering and those taking part in this intensive dyad-based group intervention. METHODS: Utilizing an ethnographic design we collected and analyzed qualitative data obtained through a focus group and interviews with program facilitators, as well as interviews with participating caregivers...
2017: Journal of the Canadian Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28331056/monitoring-of-childhood-all-using-bcr-abl1-genomic-breakpoints-identifies-a-subgroup-with-cml-like-biology
#8
Lenka Hovorkova, Marketa Zaliova, Nicola C Venn, Kirsten Bleckmann, Marie Trkova, Eliska Potuckova, Martina Vaskova, Jana Linhartova, Katerina Machova Polakova, Eva Fronkova, Walter Muskovic, Jodie E Giles, Peter J Shaw, Gunnar Cario, Rosemary Sutton, Jan Stary, Jan Trka, Jan Zuna
We used the genomic breakpoint between BCR and ABL1 genes for the DNA-based monitoring of minimal residual disease (MRD) in 48 patients with childhood acute lymphoblastic leukemia (ALL). Comparing the results with standard MRD monitoring based on immunoglobulin/T-cell receptor (Ig/TCR) gene rearrangements and with quantification of IKZF1 deletion, we observed very good correlation for the methods in a majority of patients; however, over 20% of children (25% [8/32] with minor and 12.5% [1/8] with Major-BCR-ABL1 variants in the consecutive cohorts) had significantly (>1 log) higher levels of BCR-ABL1 fusion than Ig/TCR rearrangements and/or IKZF1 deletion...
March 22, 2017: Blood
https://www.readbyqxmd.com/read/28329808/lifecourse-activity-participation-from-early-mid-and-later-adulthood-as-determinants-of-cognitive-aging-the-lothian-birth-cohort-1921
#9
Alan J Gow, Alison Pattie, Ian J Deary
Objectives: To examine potential sensitive periods for activity participation across adulthood to reduce cognitive decline and to determine whether associations persist after accounting for the lifetime stability of cognitive ability. Method: The Lothian Birth Cohort 1921 is a longitudinal study of cognitive aging. Participants were born in 1921 and most completed a mental ability test at the age of 11 years. Cognitive assessments were completed at mean ages 79 (N = 550), 83 (N = 321), 87 (N = 235), and 90 years (N = 129)...
October 7, 2016: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/28329641/differences-in-incidence-and-persistence-of-atopic-dermatitis-by-race-ethnicity
#10
M Blomberg, S L Rifas-Shiman, Ca Jr Camargo, D R Gold, J P Thyssen, A A Litonjua, M W Gillman, M M Asgari, E Oken
BackgroundMost studies on racial disparities in childhood atopic dermatitis (AD) did not consider persistent AD or account for differences in vitamin D status.MethodsAmong 1418 children recruited from a Massachusetts HMO into the pre-birth Project Viva cohort, we examined associations of child's race/ethnicity with maternal report of child's AD diagnosis by annual questionnaires. We used multivariable logistic regression adjusted for socio- demographics (maternal education, household income, smoking exposure, parental atopy, breastfeeding duration, child sex) and cord blood 25-hydroxyvitamin D, to estimate odds ratios (OR) of incident AD by early childhood (median age 3...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329160/maternal-microchimerism-predicts-increased-infection-but-decreased-disease-due-to-p-falciparum-during-early-childhood
#11
Whitney E Harrington, Sami B Kanaan, Atis Muehlenbachs, Robert Morrison, Philip Stevenson, Michal Fried, Patrick E Duffy, J Lee Nelson
BACKGROUND: A mother's infection with placental malaria (PM) can affect her child's susceptibility to malaria, although the mechanism remains unclear. The fetus acquires a small amount of maternal cells and DNA known as maternal microchimerism (MMc), and we hypothesized that PM increases MMc and that MMc alters risk of P. falciparum malaria during infancy. METHODS: In a nested cohort from Muheza, Tanzania, we evaluated the presence and level of cord blood MMc in offspring of women with and without PM...
March 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28328688/prioritizing-the-care-of-critically-ill-children-in-south-africa-how-does-screen-perform-against-other-triage-tools
#12
Bhakti Hansoti, Peter Hodkinson, Lee Wallis
OBJECTIVE: Childhood mortality remains unacceptably high. In low-resource settings, children with critical illness often present for care. Current triage strategies are time consuming and require trained health care workers. To address this limitation, our team developed a simple subjective tool, SCREEN (Sick Children Require Emergency Evaluation Now), which is easy to administer, to identify critically ill children. This article presents the development of the SCREEN program and evaluates its performance when compared with other commonly implemented triage tools in low-resource settings...
March 21, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28328011/when-emotional-pain-becomes-physical-adverse-childhood-experiences-pain-and-the-role-of-mood-and-anxiety-disorders
#13
Natalie J Sachs-Ericsson, Julia L Sheffler, Ian H Stanley, Jennifer R Piazza, Kristopher J Preacher
OBJECTIVE: We examined the association between retrospective reports of adverse childhood experiences (ACEs) and painful medical conditions. We also examined the mediating and moderating roles of mood and anxiety disorders in the ACEs-painful medical conditions relationship. METHOD: Ten-year longitudinal data were obtained from the National Comorbidity Surveys (NCS-1, NCS-2; N = 5001). The NCS-1 obtained reports of ACEs, current health conditions, current pain severity, and mood and anxiety disorders...
March 22, 2017: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28327649/adiposity-in-childhood-brain-tumors-a-report-from-the-canadian-study-of-determinants-of-endometabolic-health-in-children-candecide-study
#14
Kuan-Wen Wang, Russell J de Souza, Adam Fleming, Sheila K Singh, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Katrin Scheinemann, Lehana Thabane, M Constantine Samaan
Children with brain tumors (CBT) are at high risk of cardiovascular diseases and type 2 diabetes compared to the general population. Recently, adiposity has been reported to be more informative for cardiometabolic risk stratification than body mass index (BMI) in the general population. The goal of this study is to describe the adiposity phenotype in CBT, and to establish adiposity determinants. We recruited CBT (n = 56) and non-cancer controls (n = 106). Percent body fat (%FM), waist-to-hip ratio (WHR) and waist-to-height ratio (WHtR) were measured to determine total and central adiposity, respectively...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28327259/prevalence-of-enamel-developmental-defects-and-relationship-with-early-childhood-caries-in-trinidad
#15
Rahul S Naidu, June H Nunn
PURPOSE: The purpose of this study was to describe the prevalence of developmental defects of enamel (DDE) and their relationship with early childhood caries (ECC) among preschool children in Trinidad. METHODS: A cross-sectional oral health survey of 251 three- to five-year-old preschool children was undertaken in central Trinidad. The decayed, missing, and filled primary teeth (dmft) index and the DDE index were used to measure visible caries experience and enamel developmental defects, respectively...
September 15, 2016: Journal of Dentistry for Children
https://www.readbyqxmd.com/read/28327185/economic-evaluation-of-interventions-delivered-by-primary-care-providers-to-improve-neurodevelopment-in-children-aged-under-5%C3%A2-years-protocol-for-a-scoping-review
#16
Karen M Edmond, Natalie A Strobel, Kimberley McAuley, Elizabeth Geelhoed, Lisa Hurt
BACKGROUND: Frequently cited benefit-cost ratios suggest that interventions to improve neurodevelopment have high economic returns when implemented during pregnancy and early childhood. However, there are many challenges when primary care providers implement these interventions at scale, and it is unclear how many research studies or programmes have examined cost-effectiveness and which methods were used. There are no current scoping or systematic reviews which have assessed economic evaluations of interventions delivered by primary care providers to improve child neurodevelopment...
March 21, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28327104/characterizing-early-child-growth-patterns-of-height-for-age-in-an-urban-slum-cohort-of-bangladesh-with-functional-principal-component-analysis
#17
Yin Zhang, Jianhui Zhou, Feiyang Niu, Jeffrey R Donowitz, Rashidul Haque, William A Petri, Jennie Z Ma
BACKGROUND: Early childhood is a critical stage of physical and cognitive growth that forms the foundation of future wellbeing. Stunted growth is presented in one of every 4 children worldwide and contributes to developmental impairment and under-five mortality. Better understanding of early growth patterns should allow for early detection and intervention in malnutrition. We aimed to characterize early child growth patterns and quantify the change of growth curves from the World Health Organization (WHO) Child Growth Standards...
March 21, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28326653/the-impact-of-childhood-maltreatment-on-the-differential-efficacy-of-cbasp-versus-escitalopram-in-patients-with-chronic-depression-a-secondary-analysis
#18
Paul Bausch, Thomas Fangmeier, Ingo Zobel, Dieter Schoepf, Sarah Drost, Knut Schnell, Henrik Walter, Mathias Berger, Claus Normann, Elisabeth Schramm
Childhood maltreatment (CM) has been indicated as a predictor of a differential response to antidepressant treatment with psychotherapy compared to medication. In this secondary analysis, we investigated whether the presence of CM results in a differential indication for the Cognitive Behavioral Analysis System of Psychotherapy (CBASP) or escitalopram plus clinical management (ESC). Sixty patients with chronic depression were randomized to either 22 sessions of CBASP or ESC over the course of 8 weeks of acute and 20 weeks of extended treatment at 2 German treatment sites...
March 21, 2017: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28326606/physical-activity-sedentary-time-and-bone-strength-from-childhood-to-early-adulthood-a-mixed-longitudinal-hr-pqct-study
#19
Leigh Gabel, Heather M Macdonald, Lindsay Nettlefold, Heather A McKay
Bone strength is influenced by bone geometry, density, and bone microarchitecture, which adapt to increased mechanical loads during growth. Physical activity (PA) is essential for optimal bone strength accrual; however, less is known about how sedentary time influences bone strength and its determinants. Thus, our aim was to investigate the prospective associations between PA, sedentary time, and bone strength and its determinants during adolescence. We used HR-pQCT at distal tibia (8% site) and radius (7% site) in 173 girls and 136 boys (aged 9 to 20 years at baseline)...
March 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28326533/dysregulated-fear-social-inhibition-and-respiratory-sinus-arrhythmia-a%C3%A2-replication-and-extension
#20
Kristin A Buss, Elizabeth L Davis, Nilam Ram, Michael Coccia
Behavioral inhibition indicates increased risk for development of social anxiety. Recent work has identified a pattern of dysregulated fear (DF), characterized by high fear in low-threat situations, that provides a more precise marker of developmental risk through early childhood. This study tested a new longitudinal sample of children (n = 124) from ages 24 to 48 months. Replicating prior findings, at 24 months, we identified a pattern of fearful behavior across contexts marked by higher fear to putatively low-threat situations...
March 21, 2017: Child Development
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