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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutati…
2007
Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reactio…
Dietary polyunsaturated fatty acids may increase plasma LDL-cholesterol and plasma cholesterol concentrations in carriers of an ABCG1 gene single nuc…
2011
Abstract Background ABCG1 mediates cellular cholesterol transport, but there is very little known about the influence of ABCG1 polymorphisms on human plasma lipoprotein cholesterol concentrations or on the interactions of these polymorphisms with diet. Objective Our objective was to investigate whether interactions between PUFA intake and ABCG1 polymorphisms modulate associations with plasma total cholesterol (TC), LDL- and HDL-cholesterol in two Spanish populations. Methods We grounded our investigation on two general population-based studies: the Hortega study (population A) and the Pizarra study (population B). Participants included 1178 individuals (50.0% women, age range 21–85 years) a…
Posterior tibial tendon dysfunction: Clinical and magnetic resonance imaging findings having histology as reference standard.
2017
Abstract Objective To investigate the correlation between MRI, clinical tests, histopathologic features of posterior tibial tendon (PTT) dysfunction in patients with acquired adult flatfoot deformity surgically treated with medializing calcaneal osteotomy and flexor digitorum longus tendon transposition. Materials and methods Nineteen patients (11 females; age: 46 ± 15 year, range 18–75) were pre-operatively evaluated using the single heel rise (HR) and the first metatarsal rise (FMR) sign tests. Two reviewers graded the PTT tears on a I–III scale and measured the hindfoot valgus angle on the pre-operative MRI of the ankle. The specimens of the removed portion of PTT were histologically ana…
Maintenance of marginal bone support and soft tissue esthetics at immediately provisionalized OsseoSpeed implants placed into extraction sites: 2-yea…
2012
Background Placement of implants into extraction sockets targets the maintenance of peri-implant hard and soft tissue structures and the support of a natural and esthetic contour. The main advantages of immediate implant insertion in comparison with delayed implant placement protocols are as follows: a reduced treatment time, less number of sessions, and, thus, the less invasive procedure. This study examines the clinical performance (survival rate, marginal bone levels and Pink Esthetic Score [PES]) of OsseoSpeed™ implants placed into extraction sockets with immediate provisionalization in the anterior maxilla after a follow-up of at least 12 months. Methods Twenty patients received a tota…
Clinical and esthetic outcome with immediate insertion and provisionalization with or without connective tissue grafting in presence of mucogingival …
2017
Background Recessions following immediate implant insertion are frequently reported in the literature. Data regarding implant installation in presence of mucogingival recessions are rare. Purpose This study observes soft tissue level changes following immediate implant insertion and provisionalization of implants with or without connective tissue grafts in the anterior maxilla in patients with initial mucogingival recession within a follow-up period between one and eight years. Materials and methods Twenty-six patients with marginal gingival recessions, which were designated for extraction and immediate implant insertion in the anterior zone of the maxilla (13-23), were included. Out of a l…
Survival rates and bone loss after immediate loading of implants in fresh extraction sockets (single gaps). A clinical prospective study with 4 year …
2016
Background The aim of this prospective study was to report the outcome of treatment with implants inserted after tooth extraction and immediately loaded. Material and Methods Fifty-six patients with single tooth loss were treated with 116 IPX Galimplant® implants with internal connections and a sandblasted, acid-etched surface. All implants were placed after tooth extraction using a flapless approach without bone regeneration, and they were then immediately loaded with cemented acrylic prostheses. After a period of three months, definitive cemented ceramic prostheses were placed. Patients were examined throughout a total of 4 years of follow-up. Marginal bone loss and survival rates were ev…
Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
2008
AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed < 19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The f…
Functional polymorphism in the neuropeptide Y gene promoter (rs16147) is associated with serum leptin levels and waist-hip ratio in women
2013
<b><i>Objective:</i></b> The neuropeptide-Y (NP-Y) gene is a strong candidate gene in the pathophysiology of obesity-linked behavior, and several single-nucleotide polymorphisms of NP-Y have already been linked to body weight and appetite. However, the results from current studies remain inconclusive. The aim of the present study was to test whether a certain functional genetic variant (SNP rs16147) in the NP-Y promoter gene is associated with serum leptin levels and body fat distribution. <b><i>Method:</i></b> We genotyped and measured the serum leptin levels of the NP-Y rs16147 polymorphism in 1,097 Caucasian subjects in the context of a pop…
DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population
2005
Introduction: Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. Haplotype D, notably characterised by the presence of a G→A substitution at nucleotide 113, was associated with susceptibility to Crohn’s disease (CD) whereas an extended haplotype A conferred protection. Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population. Patients and methods: A total of 374 CD, 305 ulcerative colitis (UC), and 294 healthy controls (HC) were studied. Ge…
Increased Neural Activity in Mesostriatal Regions after Prefrontal Transcranial Direct Current Stimulation and L-DOPA Administration
2019
Dopamine dysfunction is associated with a wide range of neuropsychiatric disorders commonly treated pharmacologically or invasively. Recent studies provide evidence for a nonpharmacological and noninvasive alternative that allows similar manipulation of the dopaminergic system: transcranial direct current stimulation (tDCS). In rodents, tDCS has been shown to increase neural activity in subcortical parts of the dopaminergic system, and recent studies in humans provide evidence that tDCS over prefrontal regions induces striatal dopamine release and affects reward-related behavior. Based on these findings, we used fMRI in healthy human participants and measured the fractional amplitude of low…