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C Marini

Publications and source records attributed to C Marini.

At least 37 records · Page 2Linked to original sources
PubMed2001

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

Epilepsies affect at least 2% of the population at some time in life, and many forms have genetic determinants. We have found a mutation in a gene encoding a GABA(A) receptor subunit in a large family with epilepsy. The two main phenotypes were childhood absence epilepsy (CAE) and febrile seizures (FS). There is a recognized genetic relationship between FS and CAE, yet the two syndromes have different ages of onset, and the physiology of absences and convulsions is distinct. This suggests the mutation has age-dependent effects on different neuronal networks that influence the expression of these clinically distinct, but genetically related, epilepsy phenotypes. We found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures.

Age of Onset↗
PubMed2001

Clinical appraisal of patients and detection of serum antibodies by ELISA and CIA tests in late periods of Trichinella sp. invasion.

Results of our studies using ELISA and competitive inhibition assay (CIA) tests fully confirmed the previously experienced trichinellosis and reflected persistent stimulation of antibody production due to the antigen release from Trichinella larvae, which had survived longer and undergone gradual destruction in the muscles. The studies proved that the tests complement each other, yielding concordant results in 86.7% of cases. Due to its higher specificity, the CIA test can help in interpreting pathological signs/symptoms and in evaluating humoral response activity at late and distant in time periods following the invasion.

Adolescent↗
PubMed2001

Trichinella spp. in ostrich meat: a public health risk?

In the present work the biological behaviour of T. spiralis and T. pseudospiralis in ostriches is reported. Oral infections were performed in eight ostriches with two infective doses (10,000 and 80,000 larvae) for each species of Trichinella. On day 0, 30 and 60 p.i. blood samples were collected to assay the serum changes concerning specific muscle enzyme activities and total proteins. The immunological study, to determine specific IgG in sera, was conducted employing a monoclonal blocking ELISA. From the carcasses of sacrificed animals, samples of various muscle tissues were examined by the digestion method and by standard histopathologic procedures. The study showed a low susceptibility of the ostriches to T. pseudospiralis; preferential sites of larval distribution were muscle tissues of the legs. T. spiralis could be found in muscle tissues only when a high number of larvae were inoculated. Immunological reactivity was found only in animals infected with higher doses of T. pseudospiralis.

Animals↗
PubMed2001

Susceptibility of nutria (Myocastor coypus) to Trichinella infection: biological aspects.

Experimental infections with three different species of Trichinella in nutria in order to evaluate the susceptibility and the role of these rodents in the spreading of parasitosis in nature were carried out. The nutria is present in many italian wet areas and its distribution is expanding. The nutria meat is utilized as food in different countries and is retained responsible for trichinellosis in man. Two groups of ten animals were infected per os with 500 and 5,000 (n. 10) infective larvae of T. britovi; an additional study was arranged with two groups of animals infected with 5,000 larvae of T. spiralis and T. pseudospiralis, respectively. After 45 days, all animals were slaughtered and samples of different muscles were processed by standard artificial digestion and by routine histological methods. Serological investigations (specific IgG) have been carried out on sera samples by employing a monoclonal blocking ELISA. The animals showed a significant susceptibility to the infection with all species of tested Trichinella and immunological reactivity. Data obtained are discussed.

Animals↗
PubMed2001

Tc 99m-Sestamibi scintimammography in the differentiation of benign and malignant breast microcalcifications.

The capability of the mammography-scintimammography combination to distinguish between benign and malignant isolated clusters of breast microcalcifications is discussed. Scintimammography using Tc 99m-Sestamibi was performed in 97 women with an isolated cluster of microcalcifications on mammograms. Seventy-two women had final histopathologic diagnoses (24 cancer and 48 benign pathology). The other 25 patients had follow-up to 3 years. The results of mammography, scintimammography and mammography-scintimammography combination were divided into five groups, based on the suspicion of malignancy. The sensitivity, specificity, false negative fraction, false positive fraction, predictive positive value, predictive negative value and diagnostic accuracy were calculated varying the diagnostic threshold. The Receiver Operating Characteristic (ROC) statistical technique was employed to compare the diagnostic value of mammography to mammography-scintimammography combination. The area under the ROC curves was calculated by the Wilcoxon statistic without any hypothesis on data distribution. The detected difference between areas under the mammography ROC curve (area=0.854, standard error=0.049) and mammography-scintimammography ROC curve (area=0.897, standard error 0.033) was statistically significant (P>0.05, one tail). The area under a ROC curve represents the probability that a randomly chosen diseased or non-diseased subject could be correctly classified. From this point of view this paper demonstrates that, if properly used, scintimammography can add to mammography in the characterization of an isolated cluster of microcalcifications, even if it is not able to replace FNAB and core biopsy.

Journal Article↗
PubMed2001

Genes and olympic performance: a co-twin study.

An Olympic gold medalist in a 20 km competitive walking race and his identical twin brother, also an Olympic athlete in the same event but with inferior performance, were tested in order to obtain some further insight into the relative importance of genetic factors in modulating athletic excellence. Both twins had undergone the same strenuous, long-term training for 19 years since the age of 15 under the guidance of the same coach. An assessment of their bio-behavioural profiles at 40 years of age, i. e. 7 years after they ceased training, revealed that intrapair differences were negligible in physiological attributes but divergent in personality traits measured. Respective values for the Olympic winner and his identical counterpart were as follows: Body mass index 23.2 and 22.7, cardiac mass index 85.4 and 84.4 g x m2, squatjumping 25.3 and 27.3 cm, VO2 at running speed 9 km x h(-1) 33.1 and 33.6 ml x kg(-1) x min(-1), VO2 max 57.1 and 58.6 ml x kg(-1) x min(-1) (72.5ml x kg(-1) x min(-1) for the Olympic winner at age 22 yrs), reaction to anger 97 and 9 and anger expression 2 and 76 in percentile of the State-Trait Anger Expression Inventory. Findings suggest that although genetic constitution and years of physical training are prerequisites for making an Olympic athlete, success may be largely influenced by personality traits.

Adult↗
PubMed2001

Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review.

Ictal bradycardia is a rare, probably underestimated, manifestation of epileptic seizures whose pathophysiology is still debated. Autonomic modifications may result either from a sympathetic inhibition or from a parasympathetic activation probably due to the ictal discharge arising from or spreading to the structures of the central autonomic network. We review 60 cases of ictal bradycardia from the available literature and present three additional cases associated with left temporal lobe seizures studied by autonomic polygraphic ictal monitoring. Only 47 of the 63 reported cases were documented by simultaneous EEG and ECG recordings during an attack. About 76% of patients in whom well-localized ictal discharges were recorded had temporal or frontotemporal lobe seizures. Forty-five cases included information allowing confident localization of the side of ictal onset, and a 26 : 19 ratio of the left versus right side was evident. Simultaneous monitoring of ECG and other autonomic parameters during EEG recording in partial seizures should be performed to gain more insight into ictal semiology. Correlation of the symptoms referred to by patients with changes in autonomic parameters could avoid erroneous diagnosis of non-epileptic attacks and disclose a potentially lethal condition. Our cases confirm the preferential role of the left hemisphere in the genesis of ictal bradycardia and shed light on the relationship between suprabulbar control of autonomic function and partial epileptic seizures.

Adult↗
PubMed2001

Proportion of older people in the community as a predictor of increasing stroke incidence.

OBJECTIVES: To compare stroke incidence rates among comparable registries and to make correlations with aging of the resident populations. METHODS: This correlation study included all comparable stroke registries maintained in industrialized countries (Italy, France, United Kingdom, Denmark, Norway, United States, and Australia). Eleven community-based stroke registries with similar high proportions of radiologically confirmed diagnoses based on standard definitions were identified. Incidence rates of first-ever stroke from the prospective L'Aquila registry and from the other registries were compared after age and sex standardization to the 1996 European population. The rates were then correlated with the proportion of individuals aged 65 and over in the corresponding resident populations by means of the Poisson regression analysis. RESULTS: In the L'Aquila registry, the crude annual incidence of first-ever stroke was 281/100,000 (95% confidence interval 271-293) based on 2,515 patients included during a 3-year period. The rate standardized to the European population was 249/100,000. Standardized incidence ratios indicated a significant excess of first-ever strokes in the L'Aquila registry up to 51% with respect to most of the compared studies. A significant correlation was also found between crude (p < 0.0001) and standardized (p = 0.0012) stroke incidence rates and proportions of individuals aged 65 and over in the different populations. CONCLUSIONS: The L'Aquila experience suggests that any further aging of a population will increase the stroke occurrence for both the reasons of a direct and predictable effect of the growing proportion of elderly individuals within that population and a disproportionately increased stroke risk in the older age groups.

Adolescent↗
PubMed2001

Stroke in young adults in the community-based L'Aquila registry: incidence and prognosis.

BACKGROUND AND PURPOSE: Stroke type in the young may influence the outcome and may have a dramatic impact on the quality of life in survivors. This study aimed to evaluate the incidence and prognosis of first-ever stroke in the young and to make comparisons with older patients within a well-defined population. METHODS: All first-ever strokes occurring in the L'Aquila district, central Italy, were traced by active monitoring of inpatient and outpatient health services. Incidence rates were standardized to the 1996 European population according to the direct method. Long-term survival was estimated by the Kaplan-Meier method; outcome in survivors was evaluated by the modified Rankin scale. RESULTS: Of 4353 patients who had a first-ever stroke, 89 patients <45 years of age (55 men and 34 women) (2%) were identified in a 5-year period. Mean age+/-SD was 36.1+/-8.1 years. Twenty patients (22.5%) had a subarachnoid hemorrhage, 18 (20.2%) an intracerebral hemorrhage, and 51 (57.3%) a cerebral infarction. The corresponding proportions in patients >45 years of age were 2.4%, 13.3%, and 83.1%. Neuroimaging studies of the brain detected 14 intracranial aneurysms and 6 arteriovenous malformations in 20 of 38 patients (52.6%) with either subarachnoid (n=17) or intracerebral (n=3) hemorrhage. The crude annual incidence rate was 10.18/100,000 (95% CI, 8.14 to 12.57) and 10.23/100,000 when standardized to the 1996 European population. The 30-day case-fatality rate was 11.2% (95% CI, 6.2 to 19.4). Patients with subarachnoid hemorrhage had the highest proportion of good recovery (60%), patients with intracerebral hemorrhage had the highest mortality (44%), and patients with cerebral infarction had the highest proportion of severe disability (47%). CONCLUSIONS: Stroke patients <45 years of age showed a disproportionate cumulative high prevalence (42.7%) of subarachnoid and intracerebral hemorrhage with respect to older patients (15.7%), mainly (52.6%) due to aneurysms and arteriovenous malformations. Therefore, screening procedures and preventive strategies in the young should also be addressed to subjects at risk of subarachnoid and intracerebral hemorrhage.

Adult↗
PubMed2000

Interaction between coronary artery stenosis and coronary microcirculation in ischemic heart disease.

The hallmark of ischemic heart disease is the presence of focal obstructions in the major coronary arteries. Classically, epicardial stenoses are thought to exert their pathogenetic role mainly through a limitation on maximal flow capacity in the distal vascular bed. Ischemia is thus thought to occur whenever oxygen consumption exceeds the flow availability. Although a number of experimental studies confirmed these assumptions, the adherence of this experimental model with the clinical observations is still far from being convincing. Evidence now exists that atherosclerosis causes more profound alterations in the regulation of myocardial perfusion, besides the hydraulic effects of epicardial obstructions. These alterations affect endothelial regulation of coronary vasomotor tone both in the large arteries and in the distal microcirculation. In agreement with this experimental evidence, an abnormal response to endothelium-mediated vasodilators has been reported in patients with coronary artery disease. Moreover, several studies also reported an abnormal response of atherosclerotic coronary microcirculation to atrial pacing tachycardia and dipyridamole, which are thought to be largely endothelium independent. An even more striking observation is the finding of an intense microvascular constrictor response in the myocardium, supplied by a severely stenotic coronary artery, to pacing-induced ischemia. This observation strongly suggests that coronary microcirculation might aggravate the flow reduction imposed by the epicardial stenosis, thus playing some role in the pathogenesis of ischemia. This phenomenon might reflect the presence of a primary abnormality of coronary microcirculation in patients with coronary artery disease or the existence of a pressure-oriented regulation of vascular tone which prevent trans-stenotic pressure drop by means of a heterogeneously distributed microcirculatory vasoconstriction.

Adaptation, Physiological↗
PubMed2000

Combined intraoperative laparoscopic cholecystectomy and endoscopic retrograde cholangiopancreatography: lessons from 29 cases.

BACKGROUND: The role and timing of endoscopic retrograde cholangiopancreatography (ERCP) in patients with suspected choledocholethiasis remains a controversial subject. There have been few studies exploring the role of intraoperative ERCP. Therefore, we set out to perform a retrospective review of 29 patients who underwent combined laparoscopic cholecystectomy (LC) and intraoperative ERCP (LC/ERCP). Our objective was to assess the feasibility of a one-stage approach using intraoperative ERCP. METHODS: We identified 29 patients in whom LC/ERCP was attempted between January 1996 and November 1998 at a university-affiliated hospital with a large private faculty. Parameters reviewed included preoperative diagnosis, liver function tests (LFT), finding on transcystic cholangiogram (TCC), ERCP, stone retrieval, failure of ERCP, length of stay, morbidity, and mortality. RESULTS: Twenty-eight of 29 patients (97%) underwent successful combined LC/ERCP. Successful TCC followed by ERCP was performed in 21 of 26 patients (81%). Five TCC were technically unsuccessful; in these patients, ERCP was performed on the basis of preoperative criteria. In three patients, TCC was not attempted. Stones were successfully retrieved from 20 of 21 patients (95%) with abnormal finding on TCC, one of five patients (20%) with failed TCC, and two of three patients (67%) with ERCP but without TCC. Overall morbidity was 14%, comprising two patients with postoperative hyperamylasemia and two with cystic duct leaks. There were no deaths in the group. The mean time for the combined procedure was 173 min (range, 50-290). Mean length of hospitalization was 3.4 days, and mean postoperative stay was 2.2 days. CONCLUSIONS: LC/ERCP can be performed safely. The advantages of the combined procedures include one-stage treatment of cholelithiasis and choledocholithiasis, avoidance of unnecessary preoperative ERCP and their concomitant complications, and elimination of potential return to the operating room when postoperative ERCP is technically impossible.

Adolescent↗
PubMed2000

Colpocephaly in two siblings: further evidence of a genetic transmission.

Colpocephaly is an abnormal congenital enlargement of the occipital horns of the lateral ventricles, which has typically been associated with learning disability, seizures, and motor and visual abnormalities. This study describes familial colpocephaly in two siblings with different fathers in a Dominican family. There were no other neurological problems in their relatives. Child 1 is a 7-year-old girl, who has had partial epileptic seizures since 4 years of age. She attends a mainstream school. She has coloboma and chorioretinic atrophy in her right eye and a right microphthalmia. MRI revealed colpocephaly and hypogenesis of the corpus callosum. Her brother, aged 2 years 8 months showed a mild delay in speech acquisition. He has had three febrile convulsions and two non-febrile tonic-clonic seizures since 6 months of age. Neurological and ophthalmological examinations were normal. MRI documented colpocephaly with right occipital horn prevalence. There are only two literature reports of genetically transmitted colpocephaly hypothesised in two identical twins and in two brothers. In the children in this study, a genetic basis for colpocephaly is confirmed. We hypothesised a maternal transmission with X-linked or autosomal dominance with an incomplete penetrance model of inheritance.

Cerebral Ventricles↗
PubMed2000

Prevalence of multiple sclerosis in the L'Aquila district, central Italy.

OBJECTIVE: To estimate the prevalence of multiple sclerosis in the L'Aquila district, central Italy. METHODS: All available case sources were screened. Definite and probable cases of multiple sclerosis, classified according to the Poser criteria, were considered as prevalent cases. RESULTS: On the prevalence day, 31 December 1996, 158 patients (105 women and 53 men; ratio 2:1) affected by definite (n=131) or probable (n=27) multiple sclerosis were alive and resident in the L'Aquila district. Mean (SD) age was 38.4 (11.9) years (38.9 (11.7) years for women and 38.5 (12.3) years for men, p=0.9). The overall crude prevalence was 53.0/100 000 (95% confidence interval (95% CI)=45.4-62.0); 68.4/100 000 (95% CI=56. 5-82.8) in women, and 36.7/100 000 (95% CI=28.1-48.0) in men. The prevalence was similar (55.9/100 000) when standardised to the 1996 European population. Mean (SD) age at onset of multiple sclerosis was 29.4 (9.6) years and mean (SD) duration of the disease was 9.4 (7.4) years, without any significant difference between sexes. Mean age at onset was significantly higher in patients with the primary progressive than in those with the relapsing-remitting course (p=0. 0002, Scheffé's test). CONCLUSIONS: The prevalence found in the L'Aquila district gives support to the consideration of Italy as an area in which multiple sclerosis has been shown to have high prevalence at least in the populations that were surveyed recently.

Adolescent↗
PubMed2000

Clinical evidence for myocardial derecruitment downstream from severe stenosis: pressure-flow control interaction.

To verify the interaction between coronary pressure (CP) and blood flow (CBF) control, we studied nine candidates for angioplasty of an isolated lesion of the left anterior descending coronary artery [i.e. , percutaneous transluminal coronary angioplasty (PTCA)]. CBF (i.e., flow velocity x coronary cross-sectional area at the Doppler tip) and CP were monitored during washout of 2-5 mCi of (133)Xe after bolus injection into the left main artery before and after PTCA. Xe mean transit time (MTT) was calculated as the area under the time-activity curve, acquired by a gamma camera, divided by the dose obtained from a model fit of the Xe curve in the anterior wall. CBF response to intracoronary adenosine (2 mg) was also assessed. PTCA increased baseline CBF (from 14.5 +/- 9.4 to 20 +/- 8 ml/min, P < 0.01), coronary flow reserve (from 1.52 +/- 0.24 to 2.33 +/- 0.8, P < 0.01), and CP (from 64 +/- 9 to 100 +/- 10 mmHg, P < 0.05). MTT decreased from 89 +/- 32 to 70 +/- 19 s (P < 0.05) after PTCA; however, MTT and CBF changes were not correlated (r = -0.09, not significant). Inasmuch as MTT is the ratio of distribution volume to CBF, MTT x CBF was used as an index of perfused myocardial volume. Volume increased after PTCA from 23 +/- 18 to 56 +/- 30 ml. A direct correlation was observed between the percent increase in distal CP and percent increase in perfused volume (r = 0.91, P < 0.01). Thus low CP was not associated with exhaustion of flow reserve but, rather, with reduction of perfused myocardial volume. These data suggest that, in the presence of a severe coronary stenosis, derecruitment of vascular units occurs that is proportional to the decrease in driving pressure. Residual perfused units maintain a vasomotor tone, thus explaining the paradoxical persistence of coronary reserve.

Angioplasty, Balloon, Coronary↗
PubMed2000

[Central venous access systems in the oncologic patient].

BACKGROUND: A safe and dependable venous access is mandatory in order to perform cancer chemotherapy and monitor blood values in the neoplastic patient. Prolonged infusions of medications with sclerosing action may damage the vessel wall, inducing chemical thrombophlebitis. Furthermore, extravasation of necrotizing compounds may be a danger to the patient. The application of totally implantable venous access systems (VAS) started in 1982, in the United States of America, where at present 500,000 devices are implanted annually. In Italy such method has been introduced in a later period, with a constantly growing trend. VAS devices have evolved since their first presentation, and so have application techniques: the original surgical route has been supported by the percutaneous one, considered most appropriate by several Centers. In this study, personal experience concerning application of VAS in cancer patients is presented. METHODS: From July 1994 to February 1998, at the General Thoracic Surgery Dept. of the University of Perugia, 198 VAS have been implanted in 195 patients. During the first period all the systems have been applied by surgical cutdown of the cephalic vein (150 cases). In the last 12 month the percutaneous technique for vein puncture has been adopted in 48 patients. RESULTS: Immediate and late complications have occurred: among the former, pneumothorax, hematoma, malposition; among the latter, infection, subclavian vein thrombosis, catheter rupture. The results are analysed after an extensive review of the international literature; pros and cons of the different implantation techniques and the technical aspects useful for preventing complications are underlined.

Adult↗
PubMed2000

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30-year-old woman diagnosed as having sporadic nocturnal frontal lobe epilepsy was found to have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site-specific mutation within the second transmembrane domain of CHRNA4 in association with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in families with different ethnic backgrounds.

Adult↗
PubMed1999

Long-term prognosis of cerebral ischemia in young adults. National Research Council Study Group on Stroke in the Young.

BACKGROUND AND PURPOSE: Prognosis of ischemic stroke in young adults is reported as favorable, and transient ischemic attack (TIA) is commonly considered a benign event. We investigated long-term outcome and prognostic predictors of cerebral ischemia in patients under 45 years of age. METHODS: Three hundred thirty-three patients aged 15 to 44 years who suffered from a first-ever TIA or ischemic stroke were prospectively followed up with annual clinical evaluation or complete phone interview. End points were the composite outcome event of stroke, myocardial infarction, and vascular or nonvascular death and death from all causes. The probability of event-free survival was estimated by the Kaplan-Meier method. Univariate and multivariate estimates of hazard ratios were calculated according to the Cox proportional hazards analysis. RESULTS: An average follow-up of 96 months was available in 330 patients (99.1%). Survival was worse in patients with stroke at entry (86.5%) than in those with TIA (97.1%). Mortality in both groups was significantly higher than in the general population (standardized mortality ratio [SMR] 14.5, P<0.0001, Poisson distribution test, and SMR 7.9, P=0.002). The average annual mortality rate was higher during the first (3.94%, 95% CI 1.84 to 6. 04) than in the subsequent years. The average annual incidence rate of new stroke was higher in patients with stroke than in those with TIA at entry, and it declined from 1.56% (95% CI 0.21 to 2.91) during the first year to 0.06% (95% CI 0.04 to 0.08) at the end of the follow-up. Myocardial infarction occurred later, after the first year, with similar rates in patients with stroke and TIA at entry. The average annual rates of new stroke (2.36%), myocardial infarction (1.68%), and death (3.05%) were higher in patients with the mixed atherothrombotic and cardioembolic etiology than in the remaining patients. Male gender, age >35 years, stroke at entry, and cardiac diseases were independent predictors of the composite outcome event at the Cox regression analysis, whereas only stroke at entry and cardiac diseases predicted death from all causes. CONCLUSIONS: Stroke and TIA in young adults have severe prognostic implications, because the mortality risk was highly increased with respect to the general population. Preventive measures are strongly recommended in the presence of any unfavorable prognostic profile.

Adolescent↗