Effect of growth hormone therapy in children with prader-willi syndrome - our first experiences.

EFFECT OF GROWTH HORMONE THERAPY IN CHILDREN WITH PRADER-WILLI SYNDROME - OUR FIRST EXPERIENCES. Acta Clin Croat. 2018 Dec;57(4):744-755 Authors: Stipančić G, Požgaj Šepec M, La Grasta Sabolić L Abstract - Prader-Willi syndrome (PWS) is the most common cause of morbid obesity in childhood. It is the consequence of the lack of expression of genes on the paternally inherited 15q11.2-q13 region. Hyperphagia, obesity, short stature, psychomotor retardation and deterioration of behavior predominate in clinical presentation. Recombinant human growth hormone (rhGH) therapy, along with restriction of caloric intake, has become the mainstay in the management of PWS patients. Anthropometric parameters (height, body mass index (BMI)), therapy effect on carbohydrate and lipid metabolism, and occurrence of side effects were monitored in four children with PWS treated with rhGH for ≥2 years at doses of up to 1 mg/m2/day. During the follow-up, the height standard deviation score (SDS) increased in comparison with baseline values, and after ≥2 years of treatment with rhGH it was within the reference range for the general children population. BMI SDS decreased after the first year of treatment, but thereafter increased again; still, the level of BMI SDS was much better in comparison with most children with PWS of the same age and gender. RhGH therapy had no negative effect on glucose and lipid metabolism, nor caused any other adverse effect. Therapy inclu...
Source: Acta Clinica Croatica - Category: General Medicine Tags: Acta Clin Croat Source Type: research

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Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening o...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
This study was designed to investigate the miRNA-gene regulatory networks involved in causing these phenotypic differences. Using the post-group as a reference, we systematically identified and annotated the differentially expressed (DE) miRNAs and genes in the colon and liver of the pre-group in the 2nd and 4th weeks after GM inoculation. Most of the significantly enriched GO terms and KEGG pathways were observed in the liver and were in the 2nd week after GM transplantation. We screened 23 key genes along with their 73 miRNA regulators relevant to the host phenotype changes and constructed a network. The network containe...
Source: Frontiers in Microbiology - Category: Microbiology Source Type: research
gs This paper reports on the successful management of hyperphagia (exaggerated hunger) in a 14yr-old female with Prader–Willi syndrome (PWS). This child was diagnosed with PWS, (maternal uniparental disomy) at 18 months due to developmental delay, hypertonia, weight gain and extreme eating behaviour. Treatment of a supplement for appetite suppression commenced at 2 years of age. This single-case records ingestion of an Indian cactus succulent Caralluma fimbriata extract (CFE) over 12 years, resulting in anecdotal satiety, free access to food and management of weight within normal range. CFE was administered i...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research
AbstractPrader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000 –1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, sle...
Source: Reviews in Endocrine and Metabolic Disorders - Category: Endocrinology Source Type: research
Abstract Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000-1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, ...
Source: ENDOCR REV - Category: Endocrinology Authors: Tags: Rev Endocr Metab Disord Source Type: research
(University of Connecticut) A new collaboration between UConn Health and the Foundation for Prader-Willi Research will create a centralized, high quality biobank of stem cells to help researchers better understand Prader-Willi syndrome, a rare genetic disease that may hold insights into obesity, developmental delays, autism spectrum disorders, and many other conditions.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Publication date: January–February 2019Source: Obesity Research &Clinical Practice, Volume 13, Issue 1Author(s): Kellie L. Fusco, Gary Wittert, Philip A. Game
Source: Obesity Research and Clinical Practice - Category: Eating Disorders & Weight Management Source Type: research
Authors: Bedogni G, Grugni G, Tringali G, Tamini S, Marzullo P, Sartorio A Abstract We have recently shown that population-specific formulae are required to estimate fat-free mass (FFM) from bioelectrical impedance analysis (BIA) in obese women with Prader-Willi syndrome (PWS) matched by age and percent fat mass (FM) to non-PWS women. The present cross-sectional study was aimed at developing generalised BIA equations that could be used in PWS subjects independently of sex and FM. We used dual-energy X-ray absorptiometry to measure FFM and BIA to measure whole-body impedance at 50 kHz (Z50) in 34 women and 21...
Source: International Journal of Food Sciences and Nutrition - Category: Nutrition Tags: Int J Food Sci Nutr Source Type: research
CASE: Charles is a 10-year-old African-American male who presents to the Developmental Behavioral Pediatrics Clinic for evaluation of his learning. His primary care provider (PCP) was concerned that his developmental delays were negatively affecting his ability to engage in his homeschooling curriculum and also that his mother seemed unaware of the severity of his delays. Neuropsychological evaluation had been recommended by the PCP several times in the past, but the family declined. At one point, the PCP had considered potential child protective services (CPS) referral for medical neglect because of missed appointments ...
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: Challenging Case Source Type: research
In this study, a machine learning approach was used to predict brain age based on grey matter (GM) and white matter (WM) maps derived from structural neuroimaging data using T1-weighted magnetic resonance imaging (MRI) scans. Brain-predicted age difference (brain-PAD) scores, calculated as the difference between chronological age and brain-predicted age, are designed to reflect deviations from healthy brain aging, with higher brain-PAD scores indicating premature aging.Two separate adult cohorts underwent brain-predicted age calculation. The main cohort consisted of PWS (n = 20; age mean 23.1 years, range 19.8–...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
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