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Prader-Willi syndrome

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https://www.readbyqxmd.com/read/29666169/impact-of-transitional-care-on-endocrine-and-anthropometric-parameters-in-prader-willi-syndrome
#1
Anne-Cécile Paepegaey, Muriel Coupaye, Asma Jaziri, Florence Menesguen, Béatrice Dubern, Michel Polak, Jean-Michel Oppert, Maithe Tauber, Graziella Pinto, Christine Poitou
CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity, and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n=31) or not (n=64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team...
April 17, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29643790/a-case-of-fundus-oculi-albinoticus-diagnosed-as-angelman-syndrome-by-genetic-testing
#2
Yurie Fukiyama, Masahiro Tonari, Junko Matsuo, Hidehiro Oku, Jun Sugasawa, Shuichi Shimakawa, Tohru Ogihara, Nobuhiko Okamoto, Tsunehiko Ikeda
Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29619043/first-case-report-of-prader-willi-like-syndrome-in-colombia
#3
Estephania Candelo, Max M Feinstein, Diana Ramirez-Montaño, Juan F Gomez, Harry Pachajoa
Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29590610/a-transcriptomic-signature-of-the-hypothalamic-response-to-fasting-and-bdnf-deficiency-in-prader-willi-syndrome
#4
Elena G Bochukova, Katherine Lawler, Sophie Croizier, Julia M Keogh, Nisha Patel, Garth Strohbehn, Kitty K Lo, Jack Humphrey, Anita Hokken-Koelega, Layla Damen, Stephany Donze, Sebastien G Bouret, Vincent Plagnol, I Sadaf Farooqi
Transcriptional analysis of brain tissue from people with molecularly defined causes of obesity may highlight disease mechanisms and therapeutic targets. We performed RNA sequencing of hypothalamus from individuals with Prader-Willi syndrome (PWS), a genetic obesity syndrome characterized by severe hyperphagia. We found that upregulated genes overlap with the transcriptome of mouse Agrp neurons that signal hunger, while downregulated genes overlap with the expression profile of Pomc neurons activated by feeding...
March 27, 2018: Cell Reports
https://www.readbyqxmd.com/read/29579119/high-levels-of-caregiver-burden-in-prader-willi-syndrome
#5
Nathalie Kayadjanian, Lauren Schwartz, Evan Farrar, Katherine Anne Comtois, Theresa V Strong
OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The characteristics of PWS can be difficult for caregivers to cope with and are likely to cause significant and long- term caregiver burden. The current study examined burden in 142 caregivers of children and adults with PWS living in the US using the Zarit Burden Interview (ZBI)...
2018: PloS One
https://www.readbyqxmd.com/read/29553044/neonatal-features-of-the-prader-willi-syndrome-the-case-for-making-the-diagnosis-during-the-first-week-of-life
#6
Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M Guftar Shaikh, Malcolm Donaldson
OBJECTIVE: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. METHODS: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. RESULTS: Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29548648/genetic-factors-in-sleep-disordered-breathing
#7
REVIEW
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29532505/venovenous-extracorporeal-membrane-oxygenation-in-an-adult-patient-with-prader-willi-syndrome-a-nutrition-case-report
#8
Stacy Pelekhaty, Jay Menaker
Prader-Willi Syndrome (PWS) is a genetic condition that results in a constellation of symptoms and typically results in hyperphagia and obesity in adulthood. Critically ill adults with PWS present a unique challenge to the nutrition professional, particularly when they require support modalities such as extracorporeal membrane oxygenation (ECMO). The purpose of this case study is to review the nutrition care of a critically ill adult patient with PWS who required venovenous ECMO. The patient was successfully managed with a hypocaloric, high-protein approach, which did not result in the diagnosis of malnutrition during his hospitalization...
March 12, 2018: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/29530929/separate-roles-for-med12-and-wnt-signaling-in-regulation-of-oxytocin-expression
#9
Emma D Spikol, Eric Glasgow
Transcriptional control of oxytocinergic cell development influences social, sexual, and appetite related behaviors, and is implicated in disorders such as autism and Prader-Willi syndrome. Mediator 12 (Med12) is a transcriptional coactivator required for multiple facets of brain development including subsets of serotonergic and dopaminergic neurons. We surveyed hormone gene expression within the hypothalamo-pituitary axis of med12 mutant zebrafish embryos with a focus on oxytocin ( oxt ) expression. Some transcripts, such as oxt , vasopressin ( avp ) and corticotrophin releasing hormone ( crh ) are undetectable in the med12 mutant, while others are upregulated or downregulated to varying degrees...
March 12, 2018: Biology Open
https://www.readbyqxmd.com/read/29527494/grey-matter-volume-and-cortical-structure-in-prader-willi-syndrome-compared-to-typically-developing-young-adults
#10
Katherine E Manning, Roger Tait, John Suckling, Anthony J Holland
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29510967/treatment-with-growth-hormone-in-the-prader-willi-syndrome
#11
Eugènia Moix Gil, Olga Giménez-Palop, Assumpta Caixàs
INTRODUCTION: The Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of expression of the paternal alleles in región 15q11.2-q13. Obesity and hormonal deficiencies, especially of growth hormone (GH), are the most important signs from the therapeutic viewpoint. Recombinant GH (rGH) is effective in children and represents the mainstay in treatment; by contrast, little evidence in available in adult patients. OBJECTIVE: To review the reported evidence on the beneficial and adverse effects of treatment with rGH in children and adults...
March 3, 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29506955/chronic-diazoxide-treatment-decreases-fat-mass-and-improves-endurance-capacity-in-an-obese-mouse-model-of-prader-willi-syndrome
#12
Jocelyn M Bischof, Rachel Wevrick
Excess fat mass is a cardinal feature of Prader-Willi syndrome (PWS) that is recapitulated in the Magel2-null mouse model of this genetic disorder. There is a pressing need for drugs that can prevent or treat obesity in children with PWS. Recently, a clinical study of a controlled release form of the benzothiadiazine derivative diazoxide demonstrated improved metabolic parameters and decreased fat mass in obese children and adults with PWS. We tested whether chronic diazoxide administration can reduce fat mass and improve metabolism in mice lacking MAGEL2, a gene inactivated in PWS...
February 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29496979/hormonal-metabolic-and-skeletal-phenotype-of-schaaf-yang-syndrome-a-comparison-to-prader-willi-syndrome
#13
John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf
BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature...
March 1, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29491038/preclinical-efficacy-and-safety-of-the-novel-anti-diabetic-anti-obesity-metap2-inhibitor-zgn-1061
#14
Bryan F Burkey, Niel C Hoglen, Philip Inskeep, Margaret Wyman, Thomas E Hughes, James E Vath
Methionine aminopeptidase 2 (MetAP2) inhibition is a promising approach to treating diabetes, obesity, and associated metabolic disorders. Beloranib, a MetAP2 inhibitor previously investigated for treatment of Prader-Willi syndrome, was associated with venous thrombotic adverse events likely resulting from drug effects on vascular endothelial cells (ECs). Here, we report the pharmacological characterization of ZGN-1061, a novel MetAP2 inhibitor being investigated for treatment of diabetes and obesity. Four weeks of subcutaneous administration of ZGN-1061 to diet-induced obese (DIO) insulin-resistant mice produced a 25% reduction in body weight, primarily due to reduced fat mass, that was comparable to beloranib...
February 28, 2018: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29485929/ventilatory-responses-during-submaximal-exercise-in-children-with-prader-willi-syndrome
#15
Adam M Hyde, Robert G McMurray, Frank A Chavoya, Daniela A Rubin
PURPOSE: Prader-Willi syndrome (PWS) is a genetic neurobehavioral disorder presenting hypothalamic dysfunction and adiposity. At rest, PWS exhibits hypoventilation with hypercapnia. We characterized ventilatory responses in children with PWS during exercise. METHODS: Participants were children aged 7-12 years with PWS (n = 8) and without PWS with normal weight (NW; n = 9, body mass index ≤ 85th percentile) or obesity (n = 9, body mass index ≥ 95th percentile)...
February 27, 2018: Pediatric Exercise Science
https://www.readbyqxmd.com/read/29470292/rectal-picking-masquerading-as-inflammatory-bowel-disease-in-prader-willi-syndrome
#16
Parisa Salehi, Dale Lee, Lusine Ambartsumyan, Natalie Sikka, Ann O Scheimann
Prader-Willi syndrome (PWS) is a genetic syndrome in which individuals have multisystem medical challenges. Gastroenterological difficulties in the syndrome include decreased vomiting, constipation, delayed gastric emptying, delayed colonic transit, dysphagia, increased choking, and increased risk of gastric dilation and rupture. In addition, self-injurious behavior such as rectal picking may be present and severe enough to lead to rectal ulceration and bleeding. Many patients have extensive gastroenterological workup and treatment before their ultimate diagnosis of severe rectal picking...
February 21, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29460526/analysis-of-saliva-samples-in-patients-with-prader-willi-syndrome
#17
M Boccellino, D Di Stasio, R Serpico, A Lucchese, A Guida, G Settembre, M Di Domenico, A Rizzo
Patients affected by Prader-Willi Syndrome (PWS) usually show orofacial dysfunction, poor oral hygiene, severe tooth wear, generalized caries and thick sticky saliva. The aim of this study was to evaluate molecular/ionic changings in PWS patients compared to controls, as well as unstimulated salivary flow rate (SFR); 7 patients with a mean age of 20.0±5.45 years were enrolled in the study group (PWS group) and 5 patients with a mean age of 22.6±3.05 years, in the control group. Results showed a greater Na+ (p=0...
January 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29441128/chromosomal-microarray-analysis-in-the-genetic-evaluation-of-279-patients-with-syndromic-obesity
#18
Carla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Ae Kim, Debora Romeo Bertola, Fernando Kok, Luis Garcia-Alonso, Celia Priszkulnik Koiffmann
Background: Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29437709/prader-willi-syndrome-a-nest-for-premature-coronary-artery-disease
#19
Diogo Rodrigues Brás, Pedro Semedo, Bruno Cordeiro Piçarra, Renato Fernandes
Individuals affected by Prader-Willi syndrome (PWS) may show increased risk for coronary artery disease (CAD), which probably relates, at least, with high burden of cardiovascular risk factors.A 27-year-old man with PWS, obesity, hypertension, diabetes mellitus and dyslipidaemia attended the emergency department with complaints of flu-like condition and chest pain. The ECG revealed a mild ST-segment elevation in inferior leads, followed by positive myocardial necrosis biomarkers. Attending to the high cardiovascular risk profile, ST-segment elevation in inferior territory and wall motion abnormalities, a coronary angiogram was performed...
February 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29437285/three-siblings-with-prader-willi-syndrome-caused-by-imprinting-center-microdeletions-and-review
#20
Samantha N Hartin, Waheeda A Hossain, Nicolette Weisensel, Merlin G Butler
Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 15 with the majority of individuals having the 15q11-q13 region deleted. Examples of familial PWS have been reported but rarely. To date 13 families have been reported with more than one child with PWS and without a 15q11-q13 deletion secondary to a chromosome 15 translocation, inversion, or uniparental maternal disomy 15...
February 13, 2018: American Journal of Medical Genetics. Part A
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