Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome

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Assessment of hyperphagia in Prader-Willi syndrome.

OBJECTIVE Prader-Willi syndrome (PWS), the leading known genetic cause of obesity, is characterized by intellectual disabilities, maladaptive and compulsive behaviors, and hyperphagia. Although complications of obesity resulting from hyperphagia are the leading cause of death in PWS, quantifying this drive for food has long been an unmet research need. This study provides factor-analytic and wi...

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Prader-Willi syndrome and hyperphagia: a challenge to investigate.

Prader-Willi syndrome (PWS) is a genetic disease caused by the loss of expression of genes of paternal origin in the region 15q11--q13 of chromosome 15. The main characteristics of the syndrome include neonatal hypotonia, feeding problems in infancy, characteristic facies, intellectual disability, behavioral changes, GH deficiency, hypogonadism, and hyperphagia. Hyperphagia leads to the develop...

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Dental Management of Patients with Prader Willi Syndrome

Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...

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TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader-Willi syndrome.

BACKGROUND Prader-Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hyd...

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Prader-Willi Syndrome

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...

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ژورنال

عنوان ژورنال: JCI Insight

سال: 2018

ISSN: 2379-3708

DOI: 10.1172/jci.insight.98333