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Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu, Jean-Baptiste Poline, Eva Loth, Roberto Toro, Gunter Schumann, Patricia Conrod, Zdenka Pausova, Celia Greenwood, Tomas Paus, Thomas Bourgeron, Sébastien Jacquemont
Importance;: Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because most of them are too rare to be studied individually using association studies. Objective: To measure and estimate the effect sizes of recurrent and nonrecurrent CNVs on IQ. Design, Setting, and Participants: This study identified all CNVs that were 50 kilobases (kb) or larger in 2 general population cohorts (the IMAGEN project and the Saguenay Youth Study) with measures of IQ...
March 21, 2018: JAMA Psychiatry
Despina Apostolopoulou, Olga S Kaxira, Angeliki Hatzaki, Kanaris P Panagopoulos, Konstantinos Alexandrou, Alexander Stratoudakis, Panagoula Kollia, Vassiliki Aleporou
INTRODUCTION: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify...
January 1, 2018: Cleft Palate-craniofacial Journal
Naama Gershy, Sarah A O Gray
OBJECTIVE: The aim of this study is to examine the role of parental emotion regulation (ER) and parental mentalization as possible contributors to hostile and coercive parenting in families of children with ADHD. METHOD: Seventy-four Israeli families (64 mothers and 48 fathers) seeking parent training for child ADHD completed measures during the intake session. Measures included parental ER; parental mentalization; hostile, coercive, and submissive parenting; and child symptoms...
March 1, 2018: Journal of Attention Disorders
Manu Jamwal, Anu Aggarwal, Man Updesh Singh Sachdeva, Prashant Sharma, Pankaj Malhotra, Arindam Maitra, Reena Das
Overhydrated stomatocytosis is a rare autosomal dominant disorder known to cause variably severe haemolytic anaemia due to heterozygous mutations in the RHAG gene. We report a 26-year-old man with recurring jaundice, splenohepatomegaly and mild chronic haemolytic anaemia with significant stomatocytosis. Extensive haemolytic work-up including flow cytometry for eosin-5'-maleimide and CD47 expression levels was carried out. Targeted resequencing revealed two probably causative heterozygous mutations in RHAG (Leu336Ser and Ile149Met) and one heterozygous mutation in ANK1 (Glu1046Lys) ...
March 20, 2018: Journal of Clinical Pathology
Anthony J Scholer, Munim Ali Khan, Aastha Tandon, Kenneth Swan, Ravi J Chokshi
In today's medical community, when people say the name Herman Boerhaave, most assimilate it to Boerhaave syndrome. His influence on medicine is seen every day in hospitals around the world. His methodologies revolutionized medical education and the way physicians approach the examination of patients. It has been said that during the Age of Reason, he was the "Bearer of the Enlightenment of Medicine." He is a forgotten father of medicine. To preserve medical history, educators should give students a brief summary of the contributors to medicine to remind us how much of their lives they gave to further medical knowledge...
March 1, 2018: American Surgeon
Lucy A Stephenson, Katherine Beck, Paula Busuulwa, Camilla Rosan, Carmine M Pariante, Susan Pawlby, Vaheshta Sethna
Childhood sexual abuse (CSA) is a worldwide problem with severe long-term consequences. A history of CSA can impact the childbearing experience of mothers and fathers; affecting their mental health, parenting skills and compromising infant development. Nonetheless, the perinatal period offers huge opportunity for intervention and hope. This literature review collates evidence for perinatal psychosocial interventions targeting both mothers and fathers who are survivors of CSA. Publications dating from 1970 to June 2016 were searched using Medline, Maternity and Infant Health, PsychINFO, PsychArticles, PubMed and the International Bibliography of the Social Sciences (IBSS)...
March 17, 2018: Child Abuse & Neglect
Hisayoshi Morioka, Osamu Itani, Maki Jike, Sachi Nakagome, Yuichiro Otsuka, Takashi Ohida
OBJECTIVE: To identify risk factors at birth that are predictive of subsequent injury among preschool children. METHODS: Retrospective analysis of population-based birth cohort data from the "Longitudinal Survey of Babies Born in the 21st Century" was performed from 2001 through 2007 in Japan (n = 47,015). The cumulative incidence and the total number of hospitalizations or examinations conducted at medical facilities for injury among children from birth up to the age of 5 years were calculated...
March 19, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
María L Pardo Campos, Mariel Musso, Ana Keselman, Laura Gruñeiro, Ignacio Bergadá, Ana Chiesa
INTRODUCTION: Congenital hypothyroidism (CH), as any chronic disease, has an impact on the parent-child relationship and on the child's resources to cope with conflicting situations. OBJECTIVES: To describe parenting styles according to the perception of children with CH and their coping strategies. POPULATION AND METHODS: Children aged 9-10 years who had CH detected by newborn screening and had received adequate treatment and a group without CH (control group)...
April 1, 2018: Archivos Argentinos de Pediatría
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
Pedro Caballero-Campo, Wingka Lin, Rhodel Simbulan, Xiaowei Liu, Sky Feuer, Annemarie Donjacour, Paolo F Rinaudo
In Western society, couples increasingly delay parenthood until later in life. Overall, studies have focused on the reproductive performance of older parents or the impact of advanced maternal age on pregnancy outcomes, but few studies have examined how advanced paternal age (APA) affects offspring health. The aim of this study was to investigate the impact of increasing paternal age on offspring reproductive performance and long-term metabolic health in a mouse model. Here, the same adult B6D2F1/J male mice were mated at 4, 12, and 18 months of age with 6- to 10-week-old naturally cycling CF1 females to generate 3 offspring cohorts conceived at increasing paternal ages PA4, PA12, and PA18...
April 2018: Reproductive Sciences
Omotayo Bernard, Roger C Gibson, Affette McCaw-Binns, Jody Reece, Charlene Coore-Desai, Sydonnie Shakespeare-Pellington, Maureen Samms-Vaughan
BACKGROUND: Antenatal depression is associated with adverse maternal and infant well-being. However, compared to postpartum depression, it has been less frequently explored globally or in Jamaica. This study aimed to determine the prevalence of, and factors associated with, antenatal depressive symptoms among Jamaican women in order to inform policy and build interventions that could improve their management and reduce their negative consequences. METHODS: This secondary analysis of data from the second Jamaican Birth Cohort Study (JA-Kids Birth Cohort) included 3,517 women enrolled during pregnancy...
2018: PloS One
Martina Bjorkman Nyqvist, Seema Jayachandran
No abstract text is available yet for this article.
May 2017: American Economic Review
Ana Fonseca, Bárbara Nazaré, Maria Cristina Canavarro
OBJECTIVE: This study aimed to investigate the effect of one's attachment representations on one's and the partner's caregiving representations. BACKGROUND: According to attachment theory, individual differences in parenting and caregiving behaviours may be a function of parents' caregiving representations of the self as caregiver, and of others as worthy of care, which are rooted on parents' attachment representations. Furthermore, the care-seeking and caregiving interactions that occur within the couple relationship may also shape individuals' caregiving representations...
March 19, 2018: Journal of Reproductive and Infant Psychology
Konstantinos Laios, Marilita M Moschos
Antonio Scarpa (1752-1832) is known in the history of medicine as a distinguished anatomist and surgeon. Apart from his anatomical studies that established him and especially in clinical anatomy, he focused also his interest on ophthalmology, therefore he was considered as the "father of ophthalmology in Italy". His study on ocular cancer is of particular interest, because he not only reviewed older approaches on this issue enriching them with his own clinical observations but his study served as a bridge connecting the previous tradition to the scientific study of ocular cancer which began at the second third of 19th century...
January 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
Chelsea L Derlan, Adriana J Umaña-Taylor, Kimberly A Updegraff, Laudan B Jahromi
The current study examined mothers' reports of coparenting relationship dynamics (i.e., conflict, communication) within and between mother-father and mother-grandmother subsystems from 10 months post-partum to 5 years post-partum among 178 Mexican-origin teen mothers ( M age = 16.78 years; SD = 1.00). Specifically, within subsystems, more frequent mother-father coparenting conflict was associated with less frequent mother-father coparenting communication from 10 months to 5 years post-partum, and more frequent mother-father coparenting communication was associated with less frequent mother-father conflict from 3 to 4 years post-partum...
April 2018: Journal of Marriage and the Family
L Dell'Osso, M Corsi, C Gesi, C A Bertelloni, G Massimetti, D Peroni, A Bonuccelli, A Orsini, C Carmassi
Increasing literature has shown the usefulness of a dimensional approach to mental disorders, particularly when exploring subjects exposed to traumatic experiences such as a severe illness in one's child. Recent evidence suggests an increased vulnerability in subjects with autism spectrum symptoms to develop post-traumatic stress symptoms. The aim of the present study was to evaluate the presence of adult autism subthreshold spectrum in a sample of parents of children with epilepsy and its impact on post-traumatic stress spectrum symptoms in the same study sample...
February 12, 2018: Comprehensive Psychiatry
E C Sattler, O K Steinlein
BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Fibrofolliculomas usually occur between ages 35 and 45 years, while the risk for kidney cancer increases steadily with age, starting in young adulthood...
March 16, 2018: BMC Medical Genetics
Jin-Won Noh, Jin Hee Jung, Jeong Eun Park, Jung Hwa Lee, Kang Hee Sim, Jumin Park, Min Hee Kim, Ki-Bong Yoo
[Purpose] The purpose of the present study was to assess the relationship between age of onset and risk factors including family history and life style in Korean population with type 2 diabetes mellitus (T2D). [Subjects and Methods] Subjects with T2D patients who received outpatient care for blood sugar control were randomly sampled at 13 general hospitals and 969 subjects were included. Cox proportional hazard models were used to confirm associations between age of onset and risk factors including family history and life style in Korean population with T2D...
February 2018: Journal of Physical Therapy Science
Anna Gassman-Pines, Ann T Skinner
This study examined the relation between mothers' and fathers' psychological acculturation and parenting behaviors in two samples of Mexican immigrant families. The middle childhood sample included 47 mothers, 38 fathers and 46 children in families with children age 9 - 12, and the early childhood sample included 185 mothers and 155 fathers in families with children age 2 - 6. In both samples, compared to families in which fathers reported feeling connected only to Latino culture, fathers who reported feeling connected to both Latinos and Americans engaged in fewer aversive and withdrawn interactions and more warm interactions with children...
2018: Journal of Family Issues
C E Willis, S Reid, C Elliott, M Rosenberg, A Nyquist, R Jahnsen, S Girdler
BACKGROUND: The need to identify strategies that facilitate involvement in physical activity for children and youth with disabilities is recognised as an urgent priority. This study aimed to describe the association between context, mechanisms and outcome(s) of a participation-focused physical activity intervention to understand what works, in what conditions, and how. METHODS: This study was designed as a realist evaluation. Participant recruitment occurred through purposive and theoretical sampling of children and parents participating in the Local Environment Model intervention at Beitostolen Healthsports Centre in Norway...
March 15, 2018: BMC Pediatrics
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