With the aim of identifying hypertension susceptibility loci, we performed a genome wide scan in Scandinavian sib-pairs with early onset primary hypertension. To be classified as affected, a diagnosis of primary hypertension at age =50 years was required. Two hundred and forty three patients with onset of primary hypertension at 40.0+/-7.7 (mean+/-SD) years from 91 families (91 sib-ships with a mean of 2.7 and a range of 2-6 affected members per sib-ship) were genotyped with 362 microsatellite markers with a density of approximately 10 cM. Loci obtaining nominal P=0.016 (LOD score >/= 1.0) were fine mapped with additional markers. Multipoint non-parametric linkage analysis was performed using GENEHUNTER v 2.0. Using simulations, a nominal P=0.0002 was determined to be a genome wide significant evidence of linkage. In the 10 cM genome wide scan, nominal P=0.016 were found on chromosomes 1 at 81 cM (P=0.007), 2 at 115 cM (P=0.006), 3 at 108 cM (P=0.006), 14 at 45 cM (P=0.0002) and at 99 cM (P=0.001), 17 at 42 cM (P=0.015) and 19 at 89 cM (P=0.007). After fine mapping of these loci, one of the chromosome 14 loci just obtained the level of genome wide significance (P=0.0002 at 41 cM) and the chromosome 2 locus reached suggestive evidence of linkage (P=0.002 at 118 cM). Our data suggest a hypertension susceptibility locus on chromosome 14 around 41 cM. The locus on chromosome 2 is also promising as it has been implicated in hypertension and blood pressure regulation in earlier genome scans.
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http://dx.doi.org/10.1093/hmg/ddg206 | DOI Listing |
Clin Transplant
January 2025
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
Purpose: This study aimed to assess whether kidney stone burden and risk factors at the time of kidney donor evaluation were associated with a symptomatic stone event post-donor evaluation.
Methods: We identified adults evaluated at Mayo Clinic (two sites) (2000-2011) for living kidney donation and had either a personal history or radiological evidence of kidney stone disease. We analyzed demographics, stone risk factors, stone number/size, and the committee's donation decision and reasons.
Guidelines recommend risk stratification of pulmonary arterial hypertension (PAH) patients to guide management. There are currently several risk stratification scores available, which have largely been validated in various pulmonary hypertension registries in the West but not in Asia. We aim to study the performance of these different risk scores in PAH patients from a multi-ethnic Asian population.
View Article and Find Full Text PDFCureus
November 2024
Vascular and Endovascular Surgery, Glan Clwyd Hospital, Rhyl, GBR.
Background: This study aims to synthesise recent findings on the outcomes of common femoral endarterectomy (CFE) with profundoplasty, evaluating the efficacy, complications, and predictors of long-term success in patients undergoing this procedure.
Patients And Methods: This is a descriptive retrospective study assessing the outcomes of CFE with profundoplasty. All patients with chronic limb-threatening ischaemia (CLTI) who attended and underwent CFE with profundoplasty with or without iliac intervention at Glan Clwyd Hospital (Wales, United Kingdom) were studied.
Cureus
November 2024
Medical Affairs, Lupin Limited, Mumbai, IND.
Objectives The study was conducted to generate real-world data on prescription patterns and patient profiles for sitagliptin-based therapies in real-world outpatient settings across India. Method A cross-sectional, observational, multicenter, real-world prescription event monitoring (PEM) study was conducted at 1058 sites across India over six months, from 1 August 2023 to 16 January 2024. Adult type 2 diabetes patients receiving sitagliptin-based mono or combination therapies were included in the study.
View Article and Find Full Text PDFFront Immunol
December 2024
Medical Oncology, Institut de Cancérologie Strasbourg Europe (ICANS), Strasbourg, France.
Introduction: Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy by enhancing the antitumor immune response. This case describes an 80-year-old male with synchronous multiple primary malignancies (MPMs), including lung metastatic hepatocellular carcinoma (HCC), and non-small cell lung carcinoma (NSCLC), and brain metastatic urothelial carcinoma, who was treated with dual ICI therapy.
Case Presentation: The patient, with a history of diabetes, hypertension, dyslipidaemia, well-differentiated neuroendocrine duodenal tumors and micronodular exogenous cirrhosis (Child-Pugh class A), presented with a non-invasive bladder carcinoma (pT1N0M0) resected endoscopically in December 2022.
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