NIH genome sequencing program targets the genomic bases of common, rare disease

(NIH/National Human Genome Research Institute) The National Human Genome Research Institute and other institutes will fund genome sequencing centers to focus on understanding the genomic bases of common and rare human diseases. The Centers for Common Disease Genomics will use genome sequencing to explore the genomics of common diseases such as heart disease, diabetes, stroke and autism. NHGRI is also funding the next phase of the Centers for Mendelian Genomics, which will investigate the genomic underpinnings of rare, inherited diseases.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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This study was aimed to evaluate the antidiabetic, dermatoprotective, neuroprotective and antioxidant activities of n-butanol extracts from leaves and flowers of Chrysanthemum fontanesii. β-carotene-linoleic acid, Galvinoxyl radical (GOR), ABTS, hydroxyl radical, reducing power, CUPRAC, O-phenanthroline and metal chelating assays were used to evaluate antioxidant capacity of the extracts. The extracts showed good antioxidant activity and were a good source of phenolics and flavonoids. The enzyme inhibitory activity of the extracts was investigated against key enzymes involved in neurodegenerative [acetylcholinesterase...
Source: Biocatalysis and Agricultural Biotechnology - Category: Biotechnology Source Type: research
Publication date: Available online 18 June 2019Source: Journal of PhysiotherapyAuthor(s): Davide G de Sousa, Lisa A Harvey, Simone Dorsch, Bronwyn Varettas, Serena Jamieson, Abby Murphy, Sarah GiaccariAbstractQuestionDoes intensive sit-to-stand training in addition to usual care improve sit-to-stand ability in people who are unable to stand up independently after stroke?DesignA multi-centre randomised controlled trial with concealed allocation, assessor blinding and intention-to-treat analysis.ParticipantsThirty patients from two Sydney hospitals,
Source: Journal of Physiotherapy - Category: Physiotherapy Source Type: research
DNA tests might identify ‘invisible population’ who are not currently seen as in dangerHundreds of thousands more adults in the UK could benefit from taking statins because their genes put them at high risk of heart disease, research suggests.Speaking on Wednesday at the UK Biobank conference in London, Prof Sir Peter Donnelly, the founder of the company Genomics Plc, warned of an “invisible population” who are not identified as at risk by current screening programmes because their blood pressure and cholesterol do not raise red flags.Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Medical research Heart disease Health Heart attack Science Society UK news Source Type: news
A 71-year-old with Stanford type B aortic dissection treated with Cook Medical (Bloomington, IN) ProForm ™ stent grafts 3 years previously was referred to the nephrology outpatient clinic for asymptomatic new-onset renal impairment. Other comorbidities were chronic hepatitis B, diabetes mellitus, and hypertension. Clinic blood pressure was 152/80 mm Hg, but physical examination was otherwise unremar kable. Serum creatinine was 142 μmol/l, urine protein-to-creatinine ratio 4.07 g/g, and glomerular hematuria was present (210 red cells) without pyuria on urine microscopy.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Make Your Diagnosis Source Type: research
The sodium-dependent glucose cotransporters (SGLT) are a family of transporters on the luminal side of proximal tubular epithelial cells. SGLT2 normally reabsorbs approximately 90% of the filtered glucose load. SGLT2 is more abundantly expressed in proximal tubular epithelial cells in patients with type 2 diabetes mellitus (DM) than in healthy individuals, leading to excessive glucose reabsorption. SGLT2 inhibitors lower blood glucose by increasing urinary glucose excretion. The glucose-lowering effect is independent of insulin ( β-cell function and insulin sensitivity) and rarely causes hypoglycemia.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Nephrology Digest Source Type: research
We appreciate the letter by Dr.  Sugiyama, which provides a potential mechanistic insight with regard to the relationship between chronic kidney disease and fracture risk.1 We agree with Dr. Sugiyama that lower estimated glomerular filtration rate is associated with a decline in physical activity, and as such, physical activity c ould be a confounder in the relationship between chronic kidney disease and bone mineral density. In our previous work, we found a 4-fold higher risk of low physical activity with chronic kidney disease, a greater magnitude than diabetes or nearly 2 decades of aging.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Letter to the Editor Source Type: research
Authors: Lasalvia P, Prieto L, Moreno M, Castrillón J, Romano G, Garzón N, Rosselli D Abstract Introduction Orphan diseases are low-prevalence conditions with chronically debilitating or life-threatening consequences. Their treatments are generally called orphan drugs (OD). Health technology assessment processes have traditionally considered cost-effectiveness analysis (CEA), when making reimbursement and pricing decisions for healthcare plans. Valuing OD with standard CEA raises important issues due to uncertain evidence, inability to meet cost-effectiveness thresholds for reimbursement and high budg...
Source: Expert Review of Pharmacoeconomics and Outcomes Research - Category: Health Management Tags: Expert Rev Pharmacoecon Outcomes Res Source Type: research
Authors: PMID: 31210351 [PubMed - in process]
Source: Eastern Mediterranean Health Journal - Category: Middle East Health Tags: East Mediterr Health J Source Type: research
Conclusions: Fasting and postprandial plasma glucose screening can replace gestational diabetes mellitus screening in women who refuse to have the glucose load test. PMID: 31210349 [PubMed - in process]
Source: Eastern Mediterranean Health Journal - Category: Middle East Health Tags: East Mediterr Health J Source Type: research
This study aimed to clarify the effectiveness of the Stepping Stones Triple P (SSTP) for mothers of developmentally delayed children.METHODS The participants were 36 mothers of children using a development support classroom after a me...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news
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