A5076741414- Biochemical and Molecular Research
- Gout, Hyperuricemia, Uric Acid
- Cytomegalovirus and herpesvirus research
- HIV/AIDS drug development and treatment
- Pneumocystis jirovecii pneumonia detection and treatment
- Alcohol Consumption and Health Effects
- Adenosine and Purinergic Signaling
- Neonatal Health and Biochemistry
- Metabolism and Genetic Disorders
- Case Reports on Hematomas
- Eosinophilic Disorders and Syndromes
- Neurogenetic and Muscular Disorders Research
- Porphyrin Metabolism and Disorders
- Liver Disease Diagnosis and Treatment
- Renal Diseases and Glomerulopathies
- Adolescent and Pediatric Healthcare
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Trypanosoma species research and implications
- Inflammasome and immune disorders
- Blood Pressure and Hypertension Studies
- Oral and Craniofacial Lesions
- Parasitic Infections and Diagnostics
- Urticaria and Related Conditions
- Kidney Stones and Urolithiasis Treatments
- DNA Repair Mechanisms
Centre for Biomedical Network Research on Rare Diseases
2015-2024
Instituto de Salud Carlos III
2015-2024
Hospital La Paz Institute for Health Research
2010-2024
Creighton University
2023
Hospital Universitario La Paz
2011-2023
Vanda Pharmaceuticals (United States)
2004-2019
University of Delaware
2019
Universidad Autónoma de Madrid
1995-2013
Universidad Centroccidental Lisandro Alvarado
2002
University of Vermont
2001
Thirty-five patients (23 males) with asymptomatic hyperuricemia for at least two years underwent two-dimensional ultrasonography of knees and ankles. Urate deposits (tophi) in tendons, synovium, other soft tissues were detected 12 (34%). Increased vascularity (inflammation) was evident 8 these (23%). Tophi more frequently found than ankles especially prevalent the distal patellar tendon. The presence tophi unrelated to known duration (mean, 5 years). Ultrasonography allows detection...
Introduction Abbreviations used in this article: APRT, adenine phosphoribosyltransferase, ATP, adenosine triphosphate, DNA, deoxyribonucleic acid, GMP, guanosine monophosphate, HPRT, hypoxanthine-guanine IMP, inosine PCR, polymerase chain reaction, PRPP, phosphoribosylpyrophosphate, RNA, ribonucleic acid The enzyme phosphoribosyltransferase (E.C.2.4.2.8., HPRT) plays a crucial role uric synthesis and purine metabolism. This catalyzes the conversion of hypoxanthine guanine to monophosphate...
Gout, which is commonly associated with hyperuricemia, affects 0.2% of the population. Hyperuricemia has a heterogeneous etiology that may be due to either over production and/or reduced renal clearance, urate. In order identify mechanisms underlying excretion urate, we undertook positional cloning studies familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder characterized by hyperuricaemia, low fractional and chronic failure interstitial fibrosis. The FJHN...
Autosomal dominant tubulo-interstitial kidney disease due to
The incidence of cervical cancer in Paraguay is among the highest world, with human papillomavirus (HPV) being a necessary factor for cancer. Knowledge about HPV infection indigenous women limited. This cross-sectional study analyzed frequency and other genital infections Paraguayan Department Presidente Hayes.This included 181 sexually active without lesions. They belonged to following ethnicities: Maká (n = 40); Nivaclé 23); Sanapaná 33); Enxet Sur 51) Toba-Qom 34). detection gynecological...
The aim of this study was to examine whether serum urate-associated genetic variants are associated with early-onset gout.Participants gout in the Genetics Gout Aotearoa available genotyping were included (n = 1648). Early-onset defined as first presentation <40 years age. Single nucleotide polymorphisms (SNPs) for 10 loci most strongly urate genotyped. Allelic association SNPs tested using logistic regression an unadjusted model and a adjusted sex, body mass index, tophus presence, flare...
Background and Study Aims: Capsule endoscopy is a new, noninvasive diagnostic technique which enables visualization of the mucosa small intestine in physiological conditions without need to subject patient external radiation. Wireless capsule video contraindicated patients with cardiac pacemaker. However, on basis characteristics radiofrequency band used by endoscopic capsule, together series other factors, it possible that patient's use pacemaker should not be contraindication endoscopy....
Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or non-syndromic sensorineural deafness (DFN2, 304500). All are recessively inherited and males affected display variable degree of central peripheral neuropathy. We applied whole exome sequencing three-generation family with optic atrophy followed...
Objective. Primary gout has been associated with single-nucleotide polymorphisms (SNP) in several tubular urate transporter genes. No study assessed the association of reabsorption and secretion gene SNP a single cohort documented primary patients carefully subclassified as normoexcretors or underexcretors. Methods. Three (SLC22A12/URAT1, SLC2A9/GLUT9, SLC22A11/OAT4) 2 (SLC17A1/NPT1 ABCG2/BRCP) were studied 104 300 control subjects. The into underexcretors according to their serum 24-h...
Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine–guanine phosphoribosyltransferase (HGprt), an enzyme involved in salvage synthesis purines. To compensate this deficiency, there acceleration de novo purine biosynthetic pathway. Most studies have failed to find any consistent abnormalities nucleotides cultured cells obtained from patients. Recently, it has been shown that 5-aminoimidazole-4-carboxamide riboside...
Phase I study to assess the effects of single oral doses 100, 200, and 300 mg/day sodium tungstate (OXO-001) in healthy women childbearing age. A randomized, double-blind, dose-finding, placebo-controlled phase was conducted weight (body mass index [BMI] 18.5-24.9 kg/m2) overweight (BMI 25 ≥30 volunteers who received OXO-001 or placebo during a menstrual cycle (maximum 28 days). Data recorded were adverse events (AEs), vital signs, electrocardiogram (ECG), laboratory tests, pharmacokinetics...
Objetivos Comparar el tiempo de progresión (TP) prediabetes a diabetes mellitus tipo 2 (DMT2) según la prescripción metformina, grado control del paciente y uso betabloqueantes (BB) diuréticos tiazídicos. Material métodos Estudio multicéntrico cohortes retrospectivo que incluyó pacientes diabéticos con diagnóstico previo prediabetes. Mediante revisión fuentes documentales, se analizó si existió edad, sexo, IMC, actividad física, dieta, glucémico, seguimiento por parte enfermería, tiazídicos...