Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

BACKGROUND: Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature. Scoliosis and growth hormone insufficiency are also prevalent in PWS.There is extensive documentation of the endocrine and metabolic phenotypes for PWS, but not for SYS. This study served to investigate the hormonal, metabolic and body composition phenotype of SYS and its potential overlap with PWS. METHODS: In nine individuals with SYS (5 female/4 male; aged 5-17 years), we measured serum ghrelin, glucose, insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein 3, follicle-stimulating hormone, luteinising hormone, thyroid-stimulating hormone, free T4, uric acid and testosterone, and performed a comprehensive lipid panel. Patients also underwent X-ray and dual-energy X-ray absorptiometry analyses to assess for scoliosis and bone mineral density. RESULTS: Low IGF-1 levels despite normal weight/adequate nutrition were observed in six patients, suggesting growth hormone deficiency similar to PWS. Fasting ghrelin levels were elevated, as seen in individuals with PWS. X-rays revealed scoliosis >10° in three patients, and abnormal bone mineral density in six patients, indicated by Z-scores of below -2 SDs. CONCLUSION: This is the first analysis of the hormonal, metabolic and body composition phenotype of SYS. Our findings suggest that there is marked, but not complete overlap between PWS and SYS.

Developing Eco-Friendly 3D-Printing Composite Filament: Utilizing Palm Midrib to Reinforce High-Density Polyethylene Matrix in Design Applications.

Designers actively pursue the use of novel materials and concepts in furniture and interior design. By providing insights into their processing behavior and suitability for 3D-printing processes, this research helps to highlight the potential of using waste materials to create more environmentally friendly and sustainable 3D-printing filaments that can be used in furniture and interior design. Furthermore, the study evaluates the effect of incorporating palm midrib nanoparticles (DPFNPs) to reinforce a high-density polyethylene (HDPE) matrix with different loadings such as 10, 20, 30, 40, and 50 wt.%. The composites were extruded into filaments using a manual extruder, which was then utilized to fabricate 3D-printed specimens using a 3D-printing pen. The effect of adding DPFNPs on the composite's chemical, thermal, and mechanical properties was evaluated, with a particular focus on how these modifications influence the melt flow rate (MFR) and, subsequently, the material's printability. The results revealed that HDPE and filament composites presented similar FTIR spectra. On the other hand, the filament composites presented an increase in the thermal stability and a decrease in the mechanical strength with increasing DPFNP content in the HDPE matrix. The filaments were successfully printed using a 3D-printing pen. Thus, using DPFNPs in the HDPE matrix presents a low-cost alternative for filament production and may expand 3D-printing applications in interior and furniture design with more sustainable materials. Future work will delve into optimizing these composites for improved printability and assessing their recyclability, aiming to broaden their applications in 3D printing and beyond.

Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome.

15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We assessed the ability of the EEG analysis algorithm Brain Network Analysis (BNA) to measure cognitive function in 15q13.3 deletion patients, and to differentiate between patient and control groups. EEG data was collected from 10 individuals with 15q13.3 microdeletion syndrome (14-18 years of age), as well as 30 age-matched healthy controls, as the subjects responded to Auditory Oddball (AOB) and Go/NoGo cognitive tasks. It was determined that BNA can be used to evaluate cognitive function in 15q13.3 microdeletion patients. This analysis also significantly differentiates between patient and control groups using 5 scores, all of which are produced from ERP peaks related to late cortical components that represent higher cognitive functions of attention allocation and response inhibition (P < 0.05).