Results 61 to 70 of about 15,704 (225)

Prise en charge psychologique d'un cas du syndrome de Prader Willi: cas d'une jeune fille marocaine

The Pan African Medical Journal, 2019
Le syndrome de Prader Willi est une maladie génétique rare qui se manifeste par l'apparition d'une hyperphagie avec un risque d'obésité morbide, des difficultés d'apprentissage et des troubles du comportement, voire des troubles psychiatriques majeurs. L'
Lamyaa Benchikhi, Hind Nafiaa, Abdelaaziz Zaroual, Abderrazzak Ouanass   +3 more
doaj   +1 more source

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

Arquivos de Neuro-Psiquiatria, 2006
Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY ...
Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto   +2 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Obesity management in Prader–Willi syndrome: current perspectives [PDF]

, 2018
Antonino Crinò,1 Danilo Fintini,2 Sarah Bocchini,1 Graziano Grugni3 1Autoimmune Endocrine Diseases Unit, 2Endocrinology Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome; 3Division of Auxology, Italian ...
Grugni G, Fintini D, Bocchini S, Crinò A   +3 more
core  

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

Orphanet Journal of Rare Diseases, 2019
Background In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those improvements were made.
Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud, Maithé Tauber   +11 more
doaj   +1 more source

A Factor‐Analytic Approach for Psychometric Properties of the Repetitive Behaviors Questionnaire‐3 (RBQ‐3) for Turkish Population

Autism Research, EarlyView.
ABSTRACT Restricted and repetitive behaviors (RRBs) are one of the diagnostic criteria for autism spectrum disorders (ASD), as well as being found in the general population. The current study aims to explore the psychometric properties of the Turkish self‐report and informant‐report forms of the Repetitive Behaviors Questionnaire‐3 (RBQ‐3) for ...
Volkan Avşar, Hatice Şengül Erdem, Asiye Şengül Avşar   +2 more
wiley   +1 more source

Height loss with age in adults with Prader-Willi syndrome may result in artifactual increases in BMI

Scientific Reports
Modest decreases in height occur during normal aging, but usually have only a minimal effect on BMI (body mass index). Height loss may result from vertebral fractures, disc collapse, kyphosis, and/or scoliosis.
Harry J. Hirsch, Harel Arzi, Fortu Benarroch, Varda Gross-Tsur   +3 more
doaj   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development

Epilepsia, EarlyView.
Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW [PDF]

, 2018
Objective: To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early diagnoses and follow-up.
Hamilton Cabral Menezes-Filho (5884745), Celia Priszkulnik Koiffmann (5884733), Paula Lage Pasqualucci (5884715), Simone Sakura Ito (5884721), Durval Damiani (4829520), Larissa Baldini Farjalla Mattar (5884727), Leticia Azevedo Soster (5884739), Jorge David Aivazoglou Carneiro (5884742), Caroline Buff Gouveia Passone (5884712), Ruth Rocha Franco (4829526)   +9 more
core   +1 more source

Hyperphagia and impulsivity: use of self-administered Dykens’ and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity

Orphanet Journal of Rare Diseases
Background The determinants of early-onset obesity ( International Obesity Task Force [IOTF] 30) of different etiologies (hypothalamic obesity [HO], intellectual disability with obesity [IDO], common polygenic obesity [CO]) were prospectively included ...
Lara Arnouk, Hélène Chantereau, Sophie Courbage, Patrick Tounian, Karine Clément, Christine Poitou, Béatrice Dubern   +6 more
doaj   +1 more source