Rotordynamics Analyses of a Modified Hydraulic Power Recovery Turbine

Case StudiesProblem Statement, Machine Information, Torsional Model & Assumption, Torsional Response & Results, Tuning Methods, Field Validation, Conclusio

Rotordynamics Analyses of a Modified Hydraulic Power Recovery Turbine

Case StudiesProblem Statement, Machine Information, Torsional Model & Assumption, Torsional Response & Results, Tuning Methods, Field Validation, Conclusio

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome. Whole-exome sequencing revealed homozygous missense and compound heterozygous mutations in INPP5K in the affected members of each family. INPP5K encodes the inositol polyphosphate-5-phosphatase K, also known as SKIP (skeletal muscle and kidney enriched inositol phosphatase), which is highly expressed in the brain and muscle. INPP5K localizes to both the endoplasmic reticulum and to actin ruffles in the cytoplasm. It has been shown to regulate myoblast differentiation and has also been implicated in protein processing through its interaction with the ER chaperone HSPA5/BiP. We show that morpholino-mediated inpp5k loss of function in the zebrafish results in shortened body axis, microphthalmia with disorganized lens, microcephaly, reduced touch-evoked motility, and highly disorganized myofibers. Altogether these data demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

PURPOSE: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. METHODS: We assembled a cohort of 23 patients with de novo and biallelic DEAF1 variants, described the genotype-phenotype correlation, and investigated the differential effect of de novo and recessive variants on transcription assays using DEAF1 and Eif4g3 promoter luciferase constructs. RESULTS: The proportion of the most prevalent phenotypic features, including intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold, were not significantly different in patients with biallelic and pathogenic de novo DEAF1 variants. However, microcephaly was exclusively observed in patients with recessive variants (p < 0.0001). CONCLUSION: We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. Because the clinical picture can be nonspecific, detailed phenotype information, segregation, and functional analysis are fundamental to determine the pathogenicity of novel variants and to improve the care of these patients

Innovation cycles and productivity gain in the maritime transport (propulsion)

Marine propulsive innovations have been evolving continually since primitive days, with each innovation disrupting the former in a shorter span of time while yielding incremental benefits. The area of discussion in propulsive innovation revolves around engines, propellers and rudders which are key components responsible for vessel propulsion and navigation. Their benefits were often qualitative subjects of increased efficiency by reducing fuel consumption and increasing horsepower generation, reduced emission levels and shorter voyage time. However, this form of expression lacks elaboration and justification as it fails to portray the extent of exponential growth in each innovation with time. Hence, this report has quantified the productivity gains for each innovation in monetary form while drawing a relation with its predecessor to visualize and compare the extent of improvement from past, present and into the future. By far, historical studies have measured productivity gains of propulsive innovation using only freight rates. As such, the author has sought other mediums of measurement for instance, savings on fuel costs and time charter hire or earnings from cargo space saved, for analytical comparison. Concluding results demanded a need for further technical research on cleaner engines that possess equal or better thermal efficiency than diesel engines, hybrid solutions, azimuth thrusters and its material as well as incorporation of block chain technology in vessel propulsion.Bachelor of Science (Maritime Studies

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

To access publisher's full text version of this article click on the hyperlink belowAttention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.Lundbeck Foundation Stanley Medical Research Institute European Research Council European Community (EC) EC Novo Nordisk Foundation Aarhus University NIH K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Norway NIMH Wellcome Trust personal Vici grant of the Netherlands Organisation for Scientific Research (NWO) European College of Neuropsychopharmacology (ECNP Network 'ADHD across the Lifespan') Stiftelsen K.G. Jebsen Copenhagen University Research Council of Norway Spanish 'Ministerio de Economia y Competitividad' Generalitat de Catalunya/AGAUR ECNP network 'ADHD across the lifespan' DFG KG Jebsen Stiftelsen Wellcome Trust Medical Research Council (MRC UK) Action Medical Research Australian National Health and Medical Research Council Australian Research Council NHMR