Search results for "GENETICS"

Monitoring and use of antimycotic (micafungin) for systemic use provided by the pharmacy of Marsala Hospital, Italy

2016

Micafungin is an antimycotic drug and represents an important addition to the available therapies for the treatment of systemic fungal infections. Micafungin is used: in the treatment of invasive candidiasis, oesophageal and prophylaxis of <em>Candida</em> infections. It inhibits, in a non-competitive way, the synthesis of 1,3-β-D-glucan, a component of fungal cell wall and is rapidly distributed into the tissues. It has a high-rate respectful bond with plasma protein, which is independent from the concentration of the drug. It is metabolized through the liver, being not subject to intense metabolic transformations until the excretion. There is no evidence of systemic accumulati…

Molecular typing of Candida albicans isolates from patients and health care workers in a neonatal intensive care unit

2011

Aims:  The aim of this study was to investigate the genetic relatedness between Candida albicans isolates and to assess their nosocomial origin and the likeliness of cross-transmission between health care workers (HCWs) and hospitalized neonates in a neonatal intensive care unit (NICU). Methods:  We retrospectively analysed 82 isolates obtained from 40 neonates and seven isolates from onychomycosis of the fingers of five HCWs in a Tunisian NICU by using pulsed-field gel electrophoresis (PFGE) and randomly amplified polymorphic DNA (RAPD) analysis with CA1 and CA2 as primers. Results:  In RAPD analysis, the discriminatory power (DP) of CA1 and CA2 primers was 0·86 and 0·81, respectively. A h…

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

2021

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopat…

From transformation to chronification of migraine : pathophysiological and clinical aspects

2020

AbstractChronic migraine is a neurological disorder characterized by 15 or more headache days per month of which at least 8 days show typical migraine features. The process that describes the development from episodic migraine into chronic migraine is commonly referred to as migraine transformation or chronification. Ample studies have attempted to identify factors associated with migraine transformation from different perspectives. Understanding CM as a pathological brain state with trigeminovascular participation where biological changes occur, we have completed a comprehensive review on the clinical, epidemiological, genetic, molecular, structural, functional, physiological and preclinic…

Desmin – Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14–16 September 2001, Naarden, T…

2002

Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of…

2014

s S62 strength in the arms (pulls self to stand: 72% vs 47%) and legs (bears weight on legs: 79% vs 66%). Results were similar when patients from Taiwan, who may have been identifi ed by newborn screening and not clinical diagnosis, were excluded. Earlier initiation of ERT in classic IOPD patients appears to improve the chances of survival and leads to better retention of muscle strength and improvement of symptoms in these young patients affected most severely by Pompe disease.

Baseline data from a prospective international disease registry for Niemann-Pick disease type C

2011

Correlates of hormone replacement therapy use in Italian women, 1992-1996

1999

we analyzed the determinants of hormonal replacement therapy (HRT) use in Italy for the period 1992-1996, using data from a framework of case-control studies of colon and rectal neoplasm.a total of 1574 women aged 45-74 years were considered. This group comprised women with acute, non neoplastic, non-hormone-related diseases admitted to a network of hospitals in six areas of Italy.a total of 146 women (8.5%) reported ever HRT use. The multivariate odds ratio (OR) of ever use was 1.6 (95% CI 1.0-2.6) for women with 12 years of education or more, compared with those with7 years. The frequency of use of HRT tended to decrease with increasing parity: the OR was 0.6 for women with four or more c…

3D sonographic prenatal diagnosis of lobar holoprosencephaly associated with cebocephaly. Assessment and diagnosis with multiplanar reconstruction

2007

Sleep apnea and its role in transportation safety

2017

Obstructive sleep apnea (OSA) is a main cause of excessive daytime sleepiness and increases the risk for driving accidents, which can be normalized by treatment with continuous positive airway pressure ventilation. Since it is estimated that OSA is not diagnosed in about 80% of cases, recognition of patients at risk for driving accidents is a problem from both medical and societal points of view. Strategies to screen and identify subjects at high risk for driving accidents are under study in order to improve safety on the road, especially for commercial drivers, who show a high prevalence of OSA.