Search results for " data"
showing 10 items of 7516 documents
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1999
Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…
Type of surgical treatment and recurrence of oral leukoplakia: A retrospective clinical study
2017
Background: Oral leukoplakia (OL) is the most typical potentially malignant disorder of the oral mucosa. We aimed to evaluate the clinical outcome of oral leukoplakia treated with several types of lasers and with the use of quantic molecular resonance (QMR) lancet, in terms of recurrence rate. Material and Methods: Eighty-seven previously untreated OL (52 occurring in females and 35 in males, mean age of 59.4 ± 13.9 years) were consecutively submitted to surgical treatment at University Hospital of Parma, Italy, and Hospital de Valongo, Portugal, (1999 to 2012). Interventions were subclassified into 5 groups according to the instrument used for the surgical removal of OL (cold blade – 17; N…
Population-based case-control study of essential tremor.
1998
Current epidemiologic data on the association between environmental factors and essential tremor (ET) are scanty. In a population-based case-control study we investigated the relationship between some putative risk factors and ET. In the present study, we included all subjects identified during a door-to-door prevalence survey in a Sicilian community, affected by ET, and alive on 1 November 1987 (n=31). Of the 31 prevalent cases of ET, we were able to contact 28 subjects. Twenty-eight controls were randomly selected from the general population and matched to each case for age and sex. Exposure variables were investigated by interviewing the patients and their controls or close relatives, us…
A systematic approach to medical decision-making of uncommon clinical pictures: A case of ulcerative skin lesions by palm tree thorn injury and a one…
2005
In clinical practice, the clinician is challenged with symptoms and/or signs at times apparently insoluble by diagnostic and/ or therapeutic means. We propose that in these cases, we have to use an EBM approach in which evidence may be looked up in every available clinical report and bibliographic databases are used for searching that evidence. We report on a case of ulcerative skin lesions apparently insoluble by expert dermatologists following a conventional diagnostic and therapeutic process. We use this case report for illustrating a systematic approach to resolve diagnostic and therapeutic questions using a bibliographic database search (like MEDLINE and EMBASE). Both a systematic appr…
Influence of social factors on avoidable mortality: a hospital-based case-control study.
2005
Objective. The effect of socioeconomic factors on avoidable mortality at an individual level is not well known, since most studies showing this association are based on aggregate data. The purpose of this study was to determine socioeconomic differences between those patients who die of avoidable causes and those who do not die. Methods. A matched case-control study was carried out regarding in-hospital avoidable mortality (Holland's medical care indicators) that occurred in a university hospital serving a Spanish-Mediterranean population during a 30-month period. Results. We studied 82 cases of death from avoidable causes and 300 controls matched on medical care indicators and age. The var…
Influenza vaccination coverage among medical residents: An Italian multicenter survey
2014
Although influenza vaccination is recognized to be safe and effective, recent studies have confirmed that immunization coverage among health care workers remain generally low, especially among medical residents (MRs). Aim of the present multicenter study was to investigate attitudes and determinants associated with acceptance of influenza vaccination among Italian MRs. A survey was performed in 2012 on MRs attending post-graduate schools of 18 Italian Universities. Each participant was interviewed via an anonymous, self-administered, web-based questionnaire including questions on attitudes regarding influenza vaccination. A total of 2506 MRs were recruited in the survey and 299 (11.9%) of t…
Biopsy Sampling in Upper Gastrointestinal Endoscopy: A Survey from 10 Tertiary Referral Centres Across Europe.
2021
Background: Guidelines give robust recommendations on which biopsies should be taken when there is endoscopic suggestion of gastric inflammation. Adherence to these guidelines often seems arbitrary. This study aimed to give an overview on current practice in tertiary referral centres across Europe. Methods: Data were collected at 10 tertiary referral centres. Demographic data, the indication for each procedure, endoscopic findings, and the number and sampling site of biopsies were recorded. Findings were compared between centres, and factors influencing the decision to take biopsies were explored. Results: Biopsies were taken in 56.6% of 9,425 procedures, with significant variation between …
Analysis of thiamine transporter genes in sporadic beriberi
2014
Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…
The epidemiology of mumps in Italy.
2008
In Italy, although vaccination has been recommended for a number of years, vaccination coverage for mumps is still sub-optimal. The objective of the present study was to evaluate the seroprevalence of mumps antibodies in the Italian population, stratified by age, gender and geographical area. The proportion of individuals positive for mumps antibodies remained stable in the age classes 0–11 months and 1 year (25.4% and 30.8%, respectively) and showed a continuous increase after the second year of life. The percentage of susceptible individuals was higher than 20% in persons 2–14 years of age and exceeded 10% in persons 15–39 years of age. No statistically significant differences were observ…
Five-year retrospective italian multicenter study of visceral leishmaniasis treatment.
2014
ABSTRACT The treatment of visceral leishmaniasis (VL) is poorly standardized in Italy in spite of the existing evidence. All consecutive patients with VL admitted at 15 Italian centers as inpatients or outpatients between January 2004 and December 2008 were retrospectively considered; outcome data at 1 year after treatment were obtained for all but 1 patient. Demographic characteristics, underlying diseases, diagnostic procedures, treatment regimens and outcomes, as well as side effects were recorded. A confirmed diagnosis of VL was reported for 166 patients: 120 (72.3%) immunocompetent, 21 (12.6%) patients with immune deficiencies other than HIV infection, and 25 (15.1%) coinfected with HI…