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https://www.readbyqxmd.com/read/28523560/stem-cell-technology-for-epi-genetic-brain-disorders
#1
Renzo J M Riemens, Edilene S Soares, Manel Esteller, Raul Delgado-Morales
Despite the enormous efforts of the scientific community over the years, effective therapeutics for many (epi)genetic brain disorders remain unidentified. The common and persistent failures to translate preclinical findings into clinical success are partially attributed to the limited efficiency of current disease models. Although animal and cellular models have substantially improved our knowledge of the pathological processes involved in these disorders, human brain research has generally been hampered by a lack of satisfactory humanized model systems...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28516752/growth-hormone-treatment-and-adverse-events
#2
Yoshikazu Nishi, Toshiaki Tanaka
We compiled the major adverse events included in the Annual Research Reports of the Foundation for Growth Research published in and after 2000. We conducted a review of approximately 32,000 patients treated with growth hormone (GH) who subsequently developed leukemia and who were registered with the Foundation for Growth Research (from 1975 to December 31 1997). We performed a literature review and found that GH therapy was not associated with leukemia onset in patients with no risk factors for leukemia. We also reported the onset of diabetes mellitus (DM), scoliosis, and respiratory problems in patients with Prader-Willi syndrome who were treated with GH...
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28510708/aberrant-white-matter-microstructure-in-children-and-adolescents-with-the-subtype-of-prader-willi-syndrome-at-high-risk-for-psychosis
#3
Akvile Lukoshe, Gerbrich E van den Bosch, Aad van der Lugt, Steven A Kushner, Anita C Hokken-Koelega, Tonya White
Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder caused by loss of the paternal 15q11.2-q13 locus, due to deletion (DEL), maternal uniparental disomy (mUPD), or imprinting center defects. Individuals with mUPD have up to 60% risk of developing psychosis in early adulthood. Given the increasing evidence for white matter abnormalities in psychotic disorders, we investigated white matter microstructure in children and adolescents with PWS, with a particular emphasis on the DEL and mUPD subtypes. Magnetic resonance diffusion weighted images were acquired in 35 directions at 3T and analyzed using fractional anisotropy (FA), mean, axial, and radial diffusivity (MD, AD, RD) values obtained by tract-based spatial statistics (TBSS) in 28 children and adolescents with PWS and 61 controls...
May 16, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28506340/-endocrine-and-metabolic-features-of-female-children-with-prader-willi-syndrome-an-analysis-of-4-cases
#4
Mo-Ling Wu, Juan Li, Yu Ding, Yao Chen, Guo-Ying Chang, Xiu-Min Wang, Jian Wang, Yi-Ping Shen
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28505386/c-d-box-snornas-form-methylating-and-non-methylating-ribonucleoprotein-complexes-old-dogs-show-new-tricks
#5
REVIEW
Marina Falaleeva, Justin R Welden, Marilyn J Duncan, Stefan Stamm
C/D box snoRNAs (SNORDs) are an abundantly expressed class of short, non-coding RNAs that have been long known to perform 2'-O-methylation of rRNAs. However, approximately half of human SNORDs have no predictable rRNA targets, and numerous SNORDs have been associated with diseases that show no defects in rRNAs, among them Prader-Willi syndrome, Duplication 15q syndrome and cancer. This apparent discrepancy has been addressed by recent studies showing that SNORDs can act to regulate pre-mRNA alternative splicing, mRNA abundance, activate enzymes, and be processed into shorter ncRNAs resembling miRNAs and piRNAs...
May 15, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28503414/adult-onset-deletion-of-the-prader-willi-syndrome-susceptibility-gene-snord116-in-mice-results-in-reduced-feeding-and-increased-fat-mass
#6
Louise Purtell, Yue Qi, Lesley Campbell, Amanda Sainsbury, Herbert Herzog
BACKGROUND: The imprinted small nucleolar RNA (snoRNA) Snord116 is implicated in the aetiology of Prader-Willi syndrome (PWS), a disease associated with hyperphagia and obesity. Germline deletion of Snord116 in mice has been found to lead to increased food intake but not to the development of obesity. To determine the role of Snord116 independent of potential compensatory developmental factors, we investigated the effects of conditional adult-onset deletion of Snord116 in mice. METHODS: Deletion of Snord116 was induced at 8 weeks of age by oral administration of tamoxifen to male Snord(lox/lox); ROSA(cre/+) mice, with vehicle-treated mice used as controls...
April 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28494825/prader-willi-syndrome-background-and-management
#7
Ylenia Abdilla, Maria Andria Barbara, Jean Calleja-Agius
The imprinting disorder, Prader-Willi syndrome, is a condition associated with the gene region 15q11.2-q.13. The phenotype includes multiple characteristics, most of which are endocrine-related. An accurate diagnosis is done mostly through pre- or postnatal genetic testing. Management is mainly aimed at correcting the endocrine dysfunctions present in these patients. Genetic testing is also important to distinguish between the different causes and to calculate the recurrence risk for parents with affected children...
May 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28492577/-neuropsychological-profiles-personality-features-and-familial-relational-patterns-in-parents-of-children-with-autism-spectrum-disorders
#8
Marinella Zingale, Santina Città, Paola Occhipinti, Flaviana Elia, Serafino Buono
INTRODUCTION: The study of neuropsychological profiles and personality features of parents of persons with Autism Spectrum Disorder (ASD) has highlighted specific traits that turned out to be useful for diagnostic purposes. AIM AND METHODS: In our study, psychodiagnostic measures have been used to investigate cognitive profiles, personality features and familial relational patters in a group of parents of children with ASD associated to Intellectual Disability (ID)...
March 2017: Rivista di Psichiatria
https://www.readbyqxmd.com/read/28487784/respiratory-failure-due-to-severe-obesity-and-kyphoscoliosis-in-a-24-year-old-male-with-molecularly-confirmed-prader-willi-syndrome-in-tertiary-hospital-in-northern-tanzania
#9
Elichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, Kajiru Kilonzo, Ben C J Hamel
Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28469864/fmr1-premutation-with-prader-willi-phenotype-and-fragile-x-associated-tremor-ataxia-syndrome
#10
Verónica Martínez-Cerdeño, Mirna Lechpammer, Stephen Noctor, Jeanelle Ariza, Paul Hagerman, Randi Hagerman
This is a report of FMR1 premutation with Prader-Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28466625/paroxysmal-tonic-upward-gaze-at-adolescence-a-girl-with-prader-willi-syndrome
#11
Itai Gross, Varda Gross-Tsur
No abstract text is available yet for this article.
November 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28443951/bariatric-surgery-in-individuals-with-severe-cognitive-impairment-report-of-two-cases
#12
Everton Cazzo, Martinho Antonio Gestic, Murillo Pimentel Utrini, Felipe David Mendonça Chaim, Elaine Cristina Cândido, Luciana Bueno da Silveira Jarolavsky, Ana Maria Neder de Almeida, José Carlos Pareja, Elinton Adami Chaim
CONTEXT: Bariatric surgery has become the gold-standard treatment for refractory morbid obesity. Obesity is frequently associated with certain syndromes that include coexisting cognitive deficits. However, the outcomes from bariatric surgery in this group of individuals remain incompletely determined. CASE REPORT: A 25-year-old male with Prader-Willi syndrome, whose intelligence quotient (IQ) was 54, was admitted with a body mass index (BMI) of 55 kg/m2, associated with glucose intolerance...
April 20, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28436599/metformin-as-targeted-treatment-in-fragile-x-syndrome
#13
Angel Belle C Dy, Flora Tassone, Marwa Eldeeb, María J Salcedo-Arellano, Nicole Tartaglia, Randi Hagerman
Individuals with Fragile X Syndrome (FXS) may be affected by several comorbid conditions, both behavioral and medical. Growth findings suggest that they are at an increased risk for obesity and overeating. The Prader-Willi phenotype (PWP) of FXS occurs in less than 10% of patients but it is associated with severe hyperphagia, lack of satiation and morbid obesity. Metformin is a drug used in individuals with high risk for diabetes type 2, obesity or impaired glucose tolerance. It has had a strong safety profile in children and adults with type 2 diabetes and obesity...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28427039/low-dose-growth-hormone-treatment-in-infants-and-toddlers-with-prader-willi-syndrome-is-comparable-to-higher-dosage-regimens
#14
Elly Scheermeyer, Mark Harris, Ian Hughes, Patricia A Crock, Geoffrey Ambler, Charles F Verge, Phil Bergman, George Werther, Maria E Craig, Catherine S Choong, Peter S W Davies
OBJECTIVE: Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). DESIGN: Prospective longitudinal clinical intervention. METHODS: We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT...
March 24, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#15
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
April 19, 2017: Neurology
https://www.readbyqxmd.com/read/28402548/the-acylated-unacylated-ghrelin-ratio-is-similar-in-acromegaly-patients-during-different-treatment-regimens
#16
Ammar Muhammad, Patric J D Delhanty, Martin Huisman, Jenny A Visser, Aart Jan van der Lelij, Sebastian J C M M Neggers
Background: Data on plasma acylated ghrelin (AG) and unacylated ghrelin (UAG) levels in acromegaly are limited. High ratios of AG/UAG are linked with type 2 diabetes, obesity and hyperphagia (e.g. in Prader-Willi syndrome). Objective: To assess fasting plasma AG and UAG levels, and the AG/UAG ratio in acromegaly patients on combination treatment of long-acting somatostatin analogues and pegvisomant. As a control, we used patients controlled with pegvisomant monotherapy, and medically naïve patients with active acromegaly...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28387446/polymorphisms-in-the-srnpn-gene-are-associated-with-obesity-susceptibility-among-spanish-population
#17
David Albuquerque, Licínio Manco, Luz M González, Guillermo Gervasini, Goitzane Marcaida Benito, Juan R González, Raquel Rodríguez-López
BACKGROUND: SNRPN, which codes for the RNA-binding SmN protein, is a candidate gene for Prader-Willi syndrome. One characteristic of this neuroendocrine disorder is hyperphagia resulting in extreme obesity later in life. In this study we aim to assess whether variability within this gene could be implicated in obesity susceptibility. MATERIAL AND METHODS: A case-control study was performed including 265 unrelated patients with non-syndromic and early-onset severe obesity, belonging to high risk obesity families from Spanish ancestry; 184 healthy control individuals were included representative of the same genetic background and sex-matched...
April 7, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28387067/clinical-and-genetic-aspects-of-the-15q11-2-bp1-bp2-microdeletion-disorder
#18
M G Butler
BACKGROUND: The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader-Willi and Angelman syndromes. These syndromes were the first examples in humans of genomic imprinting and typically caused by a deletion but involving the distal chromosome 15q11-q13 breakpoint BP3 and proximally placed breakpoints BP1 or BP2 of different parental origin...
April 7, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28383347/at-home-transcranial-direct-current-stimulation-in-prader-willi-syndrome-with-severe-intellectual-disability-a-case-study
#19
Caroline Azevedo, July Silveira Gomes, Alisson Paulino Trevizol, Álvaro Machado Dias, Quirino Cordeiro
No abstract text is available yet for this article.
April 5, 2017: Journal of ECT
https://www.readbyqxmd.com/read/28371242/oxytocin-treatment-in-children-with-prader-willi-syndrome-a-double-blind-placebo-controlled-crossover-study
#20
RANDOMIZED CONTROLLED TRIAL
Jennifer L Miller, Roy Tamura, Merlin G Butler, Virginia Kimonis, Carlos Sulsona, June-Anne Gold, Daniel J Driscoll
Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. Individuals with PWS have a deficit of oxytocin producing neurons in the paraventricular nucleus of the hypothalamus. Oxytocin plays a role in regulation of feeding behaviors, social interactions, and emotional reactivity, which are all issues that significantly affect the quality of life for individuals with this syndrome...
May 2017: American Journal of Medical Genetics. Part A
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