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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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
Publication date: 13 August 2019Source: Cell Reports, Volume 28, Issue 7Author(s): Cornelia N. Stacher Hörndli, Eleanor Wong, Elliott Ferris, Kathleen Bennett, Susan Steinwand, Alexis Nikole Rhodes, P. Thomas Fletcher, Christopher GreggSummaryComplex ethological behaviors could be constructed from finite modules that are reproducible functional units of behavior. Here, we test this idea for foraging and develop methods to dissect rich behavior patterns in mice. We uncover discrete modules of foraging behavior reproducible across different strains and ages, as well as nonmodular behavioral sequences. Modules differ in ...
Source: Cell Reports - Category: Cytology Source Type: research
This study’s purpose was to describe the results of SCC as well as GFS for PWS patients with early-onset scoliosis (EOS). Methods: PWS patients were identified from 2 international multicenter EOS databases. Scoliosis, kyphosis, spine height (T1-S1), right/left hemithoracic heights/widths (RHTH, LHTH, RHTW, LHTW) were measured pretreatment, postoperation, and at 2-year follow-up. Complications were recorded. Results: Overall, 23 patients with 2-year follow-up were identified. Pretreatment; patients treated with SCC (n=10) had mean age of 1.8±0.6 years; body mass index (BMI), 16±1.5 kg/m2; s...
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Scoliosis Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31397880 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Abstract Children with Prader-Willi syndrome (PWS) and autism spectrum disorder (ASD) present with challenges in social cognitive ability, Research comparing PWS to ASD is important given the implication of 15q11-q13 region in the biology of autism. However, recent findings question the accuracy of relying solely on parent report in behavioral characterization. Thus, this study examined social cognition in an observable pretend play task and by parent report in 50 preschool children (ages 3-5) with PWS, by subtype, compared to ASD. Behaviorally, the paternal deletion subtype expressed overall higher functioning, w...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Source: Developmental Neurorehabilitation - Category: Neurology Authors: Source Type: research
Publication date: Available online 25 July 2019Source: Trends in Pharmacological SciencesAuthor(s): Sung Eun Wang, Yong-hui JiangPrader-Willi syndrome (PWS) is a neurobehavioral and epigenetic disorder caused by the deficiency of paternally expressed genes in the chromosome 15q11-q13. This unique molecular defect renders PWS an exciting opportunity to explore epigenetic therapy. Here, we briefly highlight recent findings from small molecule screening and CRISPR/Cas9-mediated epigenome editing that offer promising therapeutic options along with the challenges that remain in developing a successful epigenetic therapy for PWS in humans.
Source: Trends in Pharmacological Sciences - Category: Drugs & Pharmacology Source Type: research
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Med Students Commentary Source Type: news
In conclusion, we did not confirm a role ofNIPA1 repeat length as a modifier of theC9orf72 ALS disease risk.
Source: Neurological Sciences - Category: Neurology Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
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