Search results for "familia."
showing 10 items of 1006 documents
Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy
2017
Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lo…
The role of the prefrontal cortex in familiarity and recollection processes during verbal and non verbal recognition memory: a rTMS study.
2010
Neuroimaging and lesion studies have documented the involvement of the frontal lobes in recognition memory. However, the precise nature of prefrontal contributions to verbal and non-verbal memory and to familiarity and recollection processes remains unclear. The aim of the current rTMS study was to investigate for the first time the role of the DLPFC in encoding and retrieval of non-verbal and verbal memoranda and its contribution to recollection and familiarity processes. Recollection and familiarity processes were studied using the ROC and unequal variance signal detection methodologies. We found that rTMS delivered over left and right DLPFC at encoding resulted in material specific later…
Discrimination of tonal and atonal music in congenital amusia: The advantage of implicit tasks
2016
International audience; Congenital amusia is a neurodevelopmental disorder of music perception and production, which has been attributed to a major deficit in pitch processing. While most studies and diagnosis tests have used explicit investigation methods, recent studies using implicit investigation approaches have revealed some unimpaired pitch structure processing in congenital amusia. The present study investigated amusic individuals' processing of tonal structures (e.g., musical structures respecting the Western tonal system) via three different questions. Amusic participants and their matched controls judged tonal versions (original musical excerpts) and atonal versions (with manipula…
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area
2016
Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations. We performed a multi-center observational study on symptomatic ATTR patients prescribed to receive Tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years. Sixty-one (42 males) patients were recruited. Only 28 % of enrolled subjects h…
Sex-dependent changes in the pulmonary vasoconstriction potential of newborn rats following short-term oxygen exposure
2012
Chronic exposure to supplemental oxygen (O(2)) induces lung damage and mortality in a sex-dependent manner. The effect of short-term hyperoxia on the newborn pulmonary vasculature is unknown but is, however, of clinical significance in the neonatal resuscitation context. We hypothesize that short-term hyperoxia has a sex-dependent effect on the pulmonary vasculature.Following 1-h 100% O(2) exposure, the pulmonary arteries and lung tissues of newborn rats were evaluated.Superoxide dismutase 3 (SOD3) expression in female pups' lungs was increased as compared with that in the lungs of male pups. As compared with air-treated pups, the response of male pups to thromboxane was increased by O(2), …
Statin utilization and lipid goal attainment in high or very-high cardiovascular risk patients: insights from Italian general practice
2018
Background and aims: Statin utilization and lipid goal achievement were estimated in a large sample of Italian patients at high/very-high cardiovascular (CV) risk. Methods: Patients aged â¥18 years with a valid low-density lipoprotein cholesterol (LDL-C) measurement in 2015 were selected from the IMS Health Real World Data database; non-high-density lipoprotein cholesterol (non-HDL-C) was assessed in those with available total cholesterol measurements. Index dates were defined as the last valid lipid measurement in 2015. Patients were hierarchically classified into mutually exclusive risk categories: heterozygous familial hypercholesterolemia (primary and secondary prevention), atheroscler…
The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia – A post-h…
2015
AbstractObjectiveLomitapide (a microsomal triglyceride transfer protein inhibitor) is an adjunctive treatment for homozygous familial hypercholesterolaemia (HoFH), a rare genetic condition characterised by elevated low-density lipoprotein-cholesterol (LDL-C), and premature, severe, accelerated atherosclerosis. Standard of care for HoFH includes lipid-lowering drugs and lipoprotein apheresis. We conducted a post-hoc analysis using data from a Phase 3 study to assess whether concomitant apheresis affected the lipid-lowering efficacy of lomitapide.MethodsExisting lipid-lowering therapy, including apheresis, was to remain stable from Week −6 to Week 26. Lomitapide dose was escalated on the basi…
Drug use, family support and related factors in university students. A cross-sectional study based on the uniHcos Project data
2019
Objective: To assess the prevalence of illegal drug use in college students on any previous occasion, during the previous year and the previous month, and to analyze the relationship between illegal drug use and family support and other factors. Methods: A cross-sectional study using data from students participating in the uniHcos project (n = 3767) was conducted. The prevalence and age of onset of consumption of cannabis, non-prescription sedatives, stimulants and depressants was evaluated. Polyconsumption was also assessed. The independent variables were: family support, age, residence, and employment status. To determine the factors related to drug use multivariate logistic regression mo…
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene
2001
We found familial dysalbuminemic hyperthyroxinemia (FDH) in a 5-month-old boy with congenital hypothyroidism (CH) who had a blood thyrotropin (TSH) level of 479 mU/L but normal total serum thyroxine (T4) and higher than normal total triiodothyronine (T3) levels. Thyroid hormone substitution began at 5 weeks of age when T4 and T3 concentrations were below normal. Until the age of 5 months, treatment with levothyroxine was suboptimal on the basis of high serum TSH levels despite above-normal T4 levels. FDH was confirmed by isoelectric focusing and testing of other family members. DNA analysis of the patient revealed R218H, a mutation in the serum albumin gene associated with FDH, which was al…
Familial Mediterranean fever as an unusual cause of acute scrotum.
2001
Correct preoperative diagnosis is the crucial step in the management of acute scrotum. With the adjunct of color Doppler ultrasound, torsion of testicular appendages, epidydimitis and orchitis as the more common nonsurgical causes are differentiated reliably from testicular torsion or incarcerated inguinal hernia. Less frequently, acute scrotal swelling is the initial symptom of systemic disorders. Leukemic infiltration of the testis or scrotal involvement in vasculitis