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Biomedical subjects

S Gentile

Publications and source records attributed to S Gentile.

At least 19 recordsLinked to original sources
PubMed2007

Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.

Several studies have suggested that iron metabolism may be involved in the pathogenesis of migraine. Using a case-control design, we performed an association study in a cohort of Italian migraine patients to evaluate whether a particular allele or genotype of the haemochromatosis gene (HFE) would modify the occurrence and clinical features of the disease. We genotyped 256 migraine patients and 237 healthy age-, sex- and ethnicity-matched controls for the C282Y and H63D polymorphisms of the HFE gene. Phenotype and allele frequencies of both polymorphisms were similarly distributed in migraine patients and controls. The patients carrying the DD genotype of the H63D polymorphism showed a later age at onset of the disease and an increased number of migraine attacks. Our data suggest that the HFE gene is not a major disease gene for migraine. However, the H63D polymorphism of the HFE gene may be considered a modifying genetic factor in migraine.

Adult↗
PubMed2005

Prolonged prothrombin time, Factor VII and activated FVII levels in chronic liver disease are partly dependent on Factor VII gene polymorphisms.

BACKGROUND: Prothrombin time is a benchmark for functional assessment in cirrhosis and Factor VII levels (FVII), crucial in determining the prothrombin time, are genetically determined. METHODS: We have evaluated the prothrombin time, a number of haemostatic variables synthesised by the liver (FII, FV, FVII and activated FVII, AT and fibrinogen) and two polymorphisms of the FVII gene (5'F7 and 353R/Q) in: (a) patients with liver cirrhosis (n=118), (b) patients with chronic hepatitis (n=102) and (c) controls (n=100). RESULTS: By one-way analyses of variance, the prothrombin time and the mean levels of the FII, FV, FVIIc, FVIIa, and AT were statistically different between cirrhotics, chronic hepatitis patients and controls. The allele frequency of the FVII polymorphisms did not differ between the three groups. Those rare patients (4.6%) who were homozygous for the type 2 alleles had markedly reduced FVIIc and FVIIa levels. The analysis carried out taking into account Child class versus FVII genotype showed that the mean FVIIc levels were comparable for different genotypes within each Child's class, with the exception of the patients homozygous for the type 1 allele. CONCLUSION: Our findings help to explain the not infrequent finding of a severely prolonged prothrombin time in patients who are otherwise in a good functional class.

Alleles↗
PubMed2005

Insulin sensitivity is impaired in patients with migraine.

Several studies have shown the presence of a comorbidity between migraine and vascular diseases, like hypertension and stroke. The mechanisms of this comorbidity are unknown. Impaired insulin sensitivity has recently emerged as a risk factor for hypertension and stroke. We evaluated insulin sensitivity in 30 young, nonobese, nondiabetic, normotensive migraine patients and in 15 healthy controls. During the OGTT, glucose plasma concentrations were significantly higher in migraineurs than in controls. Insulin sensitivity, as measured by ISI-stumvoll and OGIS-180 indexes, was significantly altered in migraine. Our data show that insulin sensitivity is impaired in migraine and suggest a role for insulin resistance in the comorbidity between migraine and vascular diseases.

Adult↗
PubMed2005

[Medical emergency care units in France].

UNLABELLED: The objective of this article is to take inventory of the different medical emergency care units in France as of June 30, 2003, and to describe their main characteristics. METHODOLOGY: A telephone survey was conducted which posed questions based on a standard questionnaire to the Regional Unions of Liberal Doctors, the County Advisory Boards of the Medical Orders, and the directors and managers of the existing emergency care units. RESULTS: 97 medical safe houses were inventoried, 46 of which were operational and 51 which were in development. The Ile-de-France region is the region with the highest concentration of these units either operating or under construction. A large majority of the emergency care units were created since the year 2000, and half of them are located within health care centres and the other half into separate cells either close or distant from existing health care centres. More than half of them have no other staff aside from doctors, whilst the others comprise a spectrum of personnel including secretaries, nurses, and social assistants amongst others. More than half of the doctors are paid at the cost of each consultation and per treatment and do not have a technical platform at their disposal. Usually, these emergency care units are open all night during the week and on the weekends. One-third of them collaborate with the emergency centre and ambulance service (those who respond to calls to 15) and three-quarters of them are funded by the city's Assistance Fund for the Quality of Care. CONCLUSION: It would seem advantageous that a Charter for operation and management of these establishments be drafted and implemented in order standardise these types of structures and that their supervisors implement a national and regional follow-up mechanism for the establishments in order to better evaluate the evolution in terms of health care organisation, in particular with respect to raising the level and capacity of response.

Community Health Centers↗
PubMed2004

A randomized controlled trial of amantadine plus interferon-alpha2a vs. interferon-alpha2a alone in naive patients with chronic hepatitis C randomized according to the early virological response to interferon-alpha2a monotherapy.

BACKGROUND: An early virological response to interferon-alpha treatment is a strong predictor of sustained response, but it has never been exploited to stratify patients in clinical trials. AIM: To evaluate the efficacy of amantadine plus interferon-alpha compared with interferon-alpha alone in naive patients with chronic hepatitis C who were randomized on the basis of the early virological response to interferon-alpha. METHODS: One hundred and eighty-one patients received recombinant interferon-alpha2a (3 MU three times weekly) for 2 months and 164 were evaluated for early (i.e. month 2) virological response. Hepatitis C virus (HCV) RNA-negative patients (n = 66) were randomized to receive 3 MU of interferon-alpha three times weekly, with or without amantadine (200 mg/day); HCV RNA-positive patients (n = 98) were randomized to receive 6 MU of interferon-alpha three times weekly, with or without amantadine (200 mg/day). HCV RNA-positive patients at 6 months discontinued treatment, and all others completed 12 months. RESULTS: At month 6, HCV RNA-negative patients made up 54.2% of the interferon + amantadine group and 42.0% of the monotherapy group (P = 0.07). At month 12, HCV RNA-negative patients made up 38.5% of the interferon + amantadine group and 28.4% of the monotherapy group (N.S.). The sustained virological response rates were 21.6% and 20.9%, respectively (N.S.). CONCLUSION: The addition of amantadine does not enhance the sustained virological response to interferon-alpha in naive patients with chronic hepatitis C; however, an additive effect of amantadine occurs in the first 6 months, mainly in patients without an early response to monotherapy. Early response to interferon-alpha is a strong predictor of sustained virological response.

Adolescent↗
PubMed2004

Headache attributed to spontaneous low CSF pressure: report of three cases responsive to corticosteroids.

The therapy of headache attributed to spontaneous low CSF pressure (previously defined as spontaneous intracranial hypotension) is still a matter of debate. Epidural blood patch is considered the most effective treatment. However, pharmacological strategies may be considered before blood patch. We report three patients with headache attributed to spontaneous low CSF pressure that were successfully treated with oral prednisone. Additional studies may be useful to prove the effectiveness of corticosteroids in this syndrome.

Adrenal Cortex Hormones↗
PubMed2004

[Attitude and behavior of health services users in the face of real or perceived emergencies].

OBJECTIVES: To perform an opinion poll of users of normal health care, excluding emergency care, and also to identify populations which have required emergency care and to clarify the parameters which influence user decisions. METHODS: A transversal descriptive survey of users of Primary Medical Assurance Centres (Caisse Primaire d'Assurance Maladie) in the catchment area of the Hôpital Nord in Marseilles, France, on a given day (7 days in total). Data were gathered using a standardised questionnaire based on the following topics: socio-demographic profile of interviewed participants, patient attitude toward general practitioners' care, the reaction to a situation felt to be urgent and for which they resorted to emergency services. RESULTS: Interpretation of the results from 253 completed questionnaires demonstrated that users are mainly young, underprivileged, females, but who are not excluded from the health care system (good social security cover and marked presence of a family doctor). User behaviour differs according to the moment at which the problem arises (working hours, outside working hours) and depending on the degree of urgency perceived. ARISE OF DEMAND: In the most of cases, the patient consults emergency services for himself/herself. He/She takes the decision without prior consultation with a physician, within one hour of the problem arising, whether the problem is perceived as urgent or life-threatening, and arrived there under his/her own means. The main reason given is the access to emergency services without appointment and the principal medical reasons were for injuries and pain. CONCLUSION: This study demonstrates that users have a coherent approach depending on physician's consulting hours and according to user's perception of the emergency. On the other hand it is clear that users lack information concerning available after-hours care and the physicians night-duty organisation.

Adult↗
PubMed2003

[The major trends of the French accreditation process. A review of the first 182 reports published].

OBJECTIVES: To reply to the following questions: what is the status of the accreditation process and what are the general trends pointed out by the experts-visitors ? METHODS: A study was conducted on the 182 accreditation reports regarding health centres, published by the Anaes from June 2000 to July 2002. A reading scale was developed and data was registered in the database. Statistical analysis first described the hospitals (legal status, location, size, number of sites, presence or lack of technical devices, emergency units, and consultations) and then matched them with the specific parameters of the accreditation process (date of involvement, date of audit, date of the accreditation deliberation, number of experts and visitors and number and type of decisions. RESULTS: The results underlined the most frequent decisions among the 10 referentials of the accreditation process. The patients' case reports and the management of quality and prevention predominated. Recent French laws and the decision of the Anaes to apply these themes in their strategic orientation can explain this. COMMENTS: The large hospital size and multi-sites organisation appeared to be negative elements and justify the apprehension felt by the 'major hospitals'.

Accreditation↗
PubMed2003

[Effects of a subanaesthetic dose of ketamine on emotional and behavioral state in healthy subjects].

Schizophrenic patients suffer from positive (delusions, hallucinations) and negative signs (social withdrawal) as well as emotional disturbance that included quantitative (blunted affect) and qualitative impairments (discordance of emotional level). Ketamine, a phencyclidine derivative, is a non competitive N-methyl-D-aspartate (NMDA) glutamate receptor antagonist. In healthy subjects its administration induces some positive symptoms (perceptual distortions.), negative symptoms (emotional deficit, apathy, social withdrawal) and cognitive changes (memory impairments and perseverations) that resemble some aspects of the symptoms of schizophrenia. A double blind cross over, placebo controlled was performed in 12 normal subjects with 2 sessions separated by one week of wash-out to determine ketamine-induced effects on behavioral and emotional responses. During each session, subjects received either ketamine or placebo (saline) infusion. A subanesthetic dose of ketamine (0,5 mg/kg) was administered by constant perfusion over 60 min. Behavioral and cognitive responses were assessed using positive and negative symptoms scales (BPRS, items from SAPS and SANS), vigilance and mood visual analog scale, subjective feelings using the Addiction Research Center Inventory (ARCI) and the Profile of Mood States (POMS). Using Philippot's method, emotions were elicited by films segments which induce a diversity of predictable emotions (fear, anger, sadness, joy, disgust and neutral state) and emotional responses were assessed by the Differential Emotions Scale (DES Izard). Low dose of ketamine induced significant effects on 7-items BPRS score (positive and negative items) and significant effects on positive and negative symptoms from SANS and SAPS. This was associated with emotional blunting of visually-induced responses that resemble aspects of schizophrenic emotional impairments. Ketamine impaired ARCI subscales (benzedrine subscale, pentobarbital-chlorpromazine subscale and LSD subscale). The recent findings of ketamine's pharmacology and imaging studies allow to draw several hypothesis related to neurotransmitter systems (glutamate, dopamine, serotonin interactions) and cerebral areas (particularly prefrontal cortex, anterior cingulate cortex, hippocampus) underlying some of these ketamine-induced effects.

Adult↗
PubMed2003

Validation of the French 'multidimensional fatigue inventory' (MFI 20).

Fatigue has become an important symptom in research and also for clinical diagnosis and follow up. Many physical illnesses, in particular chronic ones such as cancer, are highly associated with fatigue. Various questionnaires for measuring fatigue have been developed, but currently no validated questionnaire exists in French language. We selected the 'Multidimensional Fatigue Inventory' (MFI) which has been validated in its English version and then translated into French by the designers. This study describes the validation step of the French version of MFI and presents the psychometric properties of this instrument. A sample of 225 patients was divided into three groups 'Tired' (82 subjects), 'Moderately tired' (36) and 'Not tired' (107). The analysis of the structure validity found four dimensions: 'General Fatigue', 'Mental Fatigue', 'Reduced Activities' and 'Motivation'. The convergent validity showed highly significant correlation (P < 0.001) with a visual analogue scale. The French MFI has been able to distinguish patients with different fatigue levels. Cronbach's alpha measurement of the scale and the subscales are good, cronbach alpha > 0.70. The reproducibility and sensitivity to change in patients who were followed up one month later show satisfactory results. This validation study of the French version of MFI shows that this instrument is valid for clinical application and allows different dimensions of fatigue to be assessed which is of particular interest for physicians, especially for cancer carers, where fatigue assessment is an important aspect of the follow up.

Adolescent↗
PubMed2003

Cloning and characterization of an ionotropic glutamate receptor subunit expressed in the squid nervous system.

In this paper we describe the cloning of a putative ionotropic glutamate receptor subunit, SqGluR, and its distribution in the nervous system of the squid. A full-length cDNA was assembled from a cDNA library of the stellate ganglion/giant fibre lobe complex of Loligo opalescens. The deduced amino acid sequence of the mature SqGluR displayed 44-46% amino acid identity with mammalian GluR1-GluR4 and 53% with Lym-eGluR1 from Lymnaea stagnalis. In situ hybridizations in adult squid confirmed that the SqGluR mRNA is abundant in giant fibre lobe neurons, in large, presumptive motor neurons of the stellate ganglion proper and in the supraoesophageal and optic lobes of the central nervous system. In newborn squid, SqGluR mRNA expression was detected throughout the nervous system but not elsewhere. A synthetic peptide corresponding to the last 15 amino acids of the SqGluR C-terminus was used to generate polyclonal antibodies, which were used for immunoblot analysis to demonstrate widespread expression in the squid central and peripheral nervous systems. Injection of the synthetic peptide into the postsynaptic side of the giant synapse inhibited synaptic transmission.

Amino Acid Sequence↗
PubMed2003

Weight gain profiles of new anti-psychotics: public health consequences.

Anti-psychotic medications are an important therapeutic option for many individuals with schizophrenia. Recently, a growing interest has been observed on weight gain, which is now a well-known adverse effect of many anti-psychotics. As obesity is frequently a comorbid condition with schizophrenia, patients with schizophrenia are inherently at increased risk of developing obesity-related conditions such as cardiovascular disease and type 2 diabetes. The consequences of excessive weight gain (obesity) associated with anti-psychotic drugs are likely to include adverse effects on health, social burden and poor compliance or even discontinuation of therapy by the patients. In this article, we focus on different aspects of weight gain induced by anti-psychotics. This review comprises the following sections: (i) the pharmacological basis of anti-psychotic-induced weight gain and metabolic effects with a review of all anti-psychotics that can be used in patients with schizophrenia; (ii) the clinical impact of the body weight gain (morbidity, psychatric consequences, mortality); (iii) the management of obesity (identification of risk factors including pharmacogenetics, diet, behavioural therapies, pharmacological approach). An understanding of these aspects is important for those who prescribe anti-psychotics in order to provide the patient the best therapeutic management.

Antipsychotic Agents↗
PubMed2003

Hypnic headache syndrome: association of the attacks with REM sleep.

We describe the polysomnographic data of two patients with nocturnal headache attacks fulfilling the clinical criteria for hypnic headache syndrome. Two overnight polysomnographic studies were performed in each patient. Four nocturnal headache attacks were captured, all emerging from the REM phase of sleep. Our findings suggest a close relationship between the REM phase of sleep and the appearance of hypnic headache attacks.

Female↗