Evaluation of IGF1/IGFBP3 Molar Ratio as an Effective Tool for Assessing the Safety of GH Therapy in Small-for-Gestational-Age, GH-Deficient and Prader-Willi Children

Conclusions: We consider IGF1/IGFBP3 molar ratio to be a useful additional parameter for assessing therapeutic safety on rGH, keeping values within the normal range for age and pubertal stage. PMID: 30759961 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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I took Step 1 early June of this year (2020), and today my attending pimped me on Prader Willi/Fragile X syndrome and I was like ".....whaaaat? What is genetic dizordurzz". I literally remembered nothing. Is it normal to lose the Step 1 details this quickly? I did fine on Step, but it appears to be a cram-and-dump type exam.
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Medical Students - MD Source Type: forums
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder in which hyperphagia (excessive appetite) is a hallmark feature. Understanding how weight changes over time in this population is important for...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This study aimed to describe the oral health status of a patient diagnosed with PWS. A girl, aged 4 years and diagnosed with PWS when she was aged 2 years, presented to the oral pathology clinic with all the inherent characteristics such as hyperphagia, obesity, short stature, speech, and language disorders.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: 20190193 Source Type: research
This study compared responses to a physical activity intervention in bone parameters and remodeling markers in youth with PWS (n = 45) and youth with non-syndromic obesity (NSO; n = 66). Measurements occurred at baseline (PRE) and after 24 weeks (POST) of a home-based active games intervention with strengthening and jumping exercises (intervention group = I) or after a no-intervention period (control group = C). Dual x-ray absorptiometry scans of the hip and lumbar spine (L1-L4) determined BMD and bone mineral content (BMC). Bone markers included fasting bone-specific alkaline phosphatase (BAP) and C-terminal telopeptide o...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease. Hashimoto's thyroiditis is characterized by the presence of thyroid-specific autoantibodies, more commonly anti-thyroperoxidase antibodies in the serum and the typical inhomogeneous echostructure of the thyroid on a thyroid ultrasound examination. Hashimoto's thyroiditis can for a long time be accompanied by normal thyroid function and hypothyroidism can only progressively be established. Graves' disease is much less frequent in childhood and adolescence...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
In conclusion, this group of paediatric patients with PWS had impaired cardiac autonomic balance due to reduced parasympathetic modulation during SWS. This result could imply an underlying increased cardiovascular risk in PWS even during early age and independent of obesity. PMID: 32812310 [PubMed - as supplied by publisher]
Source: Journal of Sleep Research - Category: Sleep Medicine Authors: Tags: J Sleep Res Source Type: research
Contributors : Aaron Gordon ; Daniel H GeschwindSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusCYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is over-expressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been rigorously studied due to its loss in 15q11.2 deletion, Prader-Willi and Angelman syndrome, the effects of CYFIP1 over-expression, as is observed in patients with CYFIP1 duplication are less well understood. Here, we developed a mouse model of human CYFIP1 overexpression (CYFIP1 OE)...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Over the years, important insight on the neurocircuitry of psychiatric symptoms have emerged from side effects recorded during deep brain stimulation (DBS). We have recently treated obesity in Prader Willi syndrome (PWS) using lateral hypothalamic region (LH) DBS[1, 2] and noticed that two out of four patients developed stimulation-induced hypomania/mania.
Source: BRAIN STIMULATION: Basic, Translational, and Clinical Research in Neuromodulation - Category: Neurology Authors: Source Type: research
Condition:   Prader-Willi Syndrome Interventions:   Drug: Somatropin;   Drug: Placebo Sponsors:   Erasmus Medical Center;   Pfizer;   Foundation for Prader-Willi Research;   Prader-Willi Fonds Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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