Bardet –Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

In this study, we identified two unrelated Japanese patients with clinical diagnoses of BBS associated with compound heterozygousSCLT1 mutation. Patient 1 was a 10-year-old girl, and patient 2 was a 22-year-old man. Both the patients showed severe renal dysfunction in childhood, RP, mild intellectual disability, short stature, and truncal obesity, without oral aberrations and polydactyly. Patient 2 also had hypogonadism. We identified two missense variants inSCLT1, c.[1218G  >  A] and [1631A >  G], in both the patients by next-generation sequencing. Subsequent cDNA analysis revealed that c.1218G >  A affected exon 14 skipping inSCLT1. To date,SCLT1 has been reported as the causative gene of oral –facial–digital syndrome type IX, and Senior–Løken syndrome. The phenotypes of both the present patients were compatible with BBS. These results highlightSCLT1 as an additional candidate for BBS phenotype in an autosomal recessive manner.
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research

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Publication date: Available online 31 May 2020Source: Mental Health and Physical ActivityAuthor(s): J.E. King, H. Jebeile, S.P. Garnett, L.A. Baur, S.J. Paxton, M.L. Gow
Source: Mental Health and Physical Activity - Category: Psychiatry & Psychology Source Type: research
The objective of this study is to provide an overview of the available hypotheses on the aetiology of Blount’s disease since its first description and assessment of the available level of evidence, the quality of evidence and the occurrence of bias supporting these individual hypotheses. A systematic search according to the PRISMA statement was conducted using PubMed, MEDLINE, EMBASE and the Cochrane Library using a broad combination of terminology to ascertain a complete selection. Proper MESH search criteria were formulated and the bibliographic search was limited to English and Dutch language articles. Articles wi...
Source: Journal of Pediatric Orthopaedics B - Category: Orthopaedics Tags: Leg & Foot Source Type: research
Publication date: Available online 1 June 2020Source: Pregnancy HypertensionAuthor(s): Osasumwen Asemota, Lennox Bryson, Joshua Fogel
Source: Pregnancy Hypertension: An International Journal of Womens Cardiovascular Health - Category: OBGYN Source Type: research
Conclusion: The burden of disease (BD) increased by 1.6% from 1990 to 2015. The main causes were migraine, CVD, and NE. ADD and NSC doubled the DALY in this period. These diseases represent a significant cause of disability attributable to the increase in the life expectancy of our population among other factors. Priority actions should be taken to prevent and treat these causes.RESUMEN Introducci ón: Los indicadores de carga de la enfermedad evalúan el impacto que producen las enfermedades en una población. Integran la mortalidad y discapacidad en un solo indicador. Esto permite fijar prioridades para...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Conclusions There was a cumulative effect of the form of physical activity on the occurrence of HBP. Classifying active subjects at work or at home as inactive persons by relying only on the leisure form can lead to methodological errors. (Arq Bras Cardiol. 2020; 114(5):755-761)
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
Conclusions There was a cumulative effect of the form of physical activity on the occurrence of HBP. Classifying active subjects at work or at home as inactive persons by relying only on the leisure form can lead to methodological errors. (Arq Bras Cardiol. 2020; 114(5):755-761)
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
The model relied on body mass index and obesity data collected in a 2011 study that tracked weight patterns among more than 15,500 children, from kindergarten through 5th grade.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Authors: Naskar C, Grover S, Sharma A, Padhy SK Abstract The present study aimed to compare the symptom profile, psychological correlates, public stigma, quality of life and disability of patients with somatic symptom disorder attending the psychiatric outpatient services and those who refuse to attend the psychiatry outpatient services. For this, patients were recruited from both Psychiatry outpatient services (N = 62) and Rheumatology outpatient services (N = 41). Participants were assessed on Screening for Somatoform Disorders Instrument, Beck's Depression Inventory, Somatosensory Amp...
Source: Asian Journal of Psychiatry - Category: Psychiatry Tags: Asian J Psychiatr Source Type: research
Scientists use kirigami techniques to create a sole with pop-up, high-friction spikesThe Japanese art of paper cutting and folding, or kirigami, has led to mind-bending 3D structures from 2D sheets, including spectacular pop-up designs. But now researchers have been getting to grips with the technique for a very down-to-earth reason: creating non-slip shoes.Scientists have revealed they have developed a kirigami-inspired sole, where tiny spikes pop up from its surface as the shoe is bent during walking. The team found the spikes enhance grip, which could help prevent potentially fatal falls.Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Technology Science Life and style World news Source Type: news
Scientists have linked to ALK Gene to thinness. Researchers found deactivating gene led to weight loss in mice and fruit flies.Read more on sciencespacerobots.com
Source: HealthNewsBlog.com - Category: Consumer Health News Tags: diet obesity Source Type: blogs
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