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Biomedical subjects

R De Marco

Publications and source records attributed to R De Marco.

At least 19 recordsLinked to original sources

Improvement in quality of life and activity limitations in migraine patients after prophylaxis. A prospective longitudinal multicentre study.

Improved health-related quality of life (HRQOL) and reduced activity limitations are prime objectives of migraine therapy, but no data on the effect of preventive treatments on these outcomes are available. We monitored changes in HRQOL using the Short Form 36 (SF-36) and headache-related activity limitations using the Migraine Disability Assessment Score (MIDAS) in 141 consecutive migraine without aura patients on prophylaxis. A total of 102 patients completed the 3-month study. Mean (SD) number of headache days/month dropped from 8.0 (3.7) to 5.0 (2.3) (P < 0.001). Mean monthly consumption of acute drugs reduced from 7.4 (3.5) to 4.4 (3.1) (P < 0.001). MIDAS total score reduced (improved) significantly. All SF-36 scale scores increased (improved), most significantly. This first study to assess prospectively the impact of prophylaxis on HRQOL and daily activities in a large series indicates that migraine prophylaxis has the potential to reduce the global burden of migraine on individuals and society.

Activities of Daily Living↗

Increase in diagnosed asthma but not in symptoms in the European Community Respiratory Health Survey.

BACKGROUND: Information on the epidemiology of asthma in relation to age is limited and hampered by reporting error. To determine the change in the prevalence of asthma with age in young adults we analysed longitudinal data from the European Community Respiratory Health Survey. METHODS: A self-administered questionnaire was completed by 11 168 randomly selected subjects in 14 countries in 1991-3 when they were aged 20-44 years and 5-11 years later from 1998 to 2003. Generalised estimating equations were used to estimate net change in wheeze, nocturnal tightness in chest, shortness of breath, coughing, asthma attacks in the last 12 months, current medication, "diagnosed" asthma, and nasal allergies. RESULTS: Expressed as change in status per 10 years of follow up, subjects reporting asthma attacks in the previous 12 months increased by 0.8% of the population (95% CI 0.2 to 1.4) and asthma medication by 2.1% (95% CI 1.6 to 2.6), while no statistically significant net change was found in reported symptoms. Reported nasal allergies increased, especially in the youngest age group. CONCLUSIONS: As this cohort of young adults has aged, there has been an increase in the proportion treated for asthma but not in the proportion of those reporting symptoms suggestive of asthma. Either increased use of effective treatments has led to decreased morbidity among asthmatic subjects or those with mild disease have become more likely to label themselves as asthmatic.

Adult↗

Direct correlation between human herpesvirus-8 seroprevalence and classic Kaposi's sarcoma incidence in Northern Sardinia.

The human herpesvirus-8 (HHV-8) has been associated with the development of Kaposi's sarcoma. A high incidence of classic Kaposi's sarcoma has been described in Sardinia, an island West of Italy's mainland. Different seroepidemiological analyses have reported that prevalence of HHV-8 infection varies worldwide: a high HHV-8 seroprevalence has been shown in Italy. The present survey was carried out to evaluate the correlation between HHV-8 infection and classic Kaposi's sarcoma incidence in northern Sardinia. Blood samples were collected from 226 healthy donors born and resident in five different areas of North Sardinia. Seroprevalence to HHV-8 was determined searching antibodies to viral lytic proteins by immunofluorescence in sera diluted at 1:10. Classic Kaposi's sarcoma incidence data spanning a period of 23 years were examined in the areas studied. The present screening revealed that seroprevalence was 35%, within a range of 15.3-46.3% in the five areas, although it should be considered that the seroprevalence to HHV-8 can be established more accurately by the combined use of different assays. Age emerged as an important risk factor. Indeed, subjects aged > 50 years showed a higher seroprevalence to HHV-8 as compared with younger individuals. A strong direct correlation between HHV-8 prevalence and classic Kaposi's sarcoma incidence has been also observed. The wide diffusion of HHV-8 in Sardinia appears to represent an important factor in the high incidence of classic Kaposi's sarcoma reported in the island. However, additional co-factors, such as age, sex, genetic traits, or viral strain pathogenicity, are likely to play a role in the development of the disease.

Adult↗

CT features of malignant mucinous cystic tumors of the pancreas.

This study is aimed at evaluating which pre-operative findings at CT are prevailingly associated with histologically malignant appearance of mucinous cystic tumor (MCT) of the pancreas. The CT examinations of 52 female patients affected with pathologically proved MCT were retrospectively evaluated by two radiologists, blinded to the histopathological assessment of the biologic behavior (either benign or malignant). A multivariate logistic regression analysis was performed in order to identify the most important features associated with the malignant nature of MCT. Calcifications in the wall and/or in the septa, thick wall, and septations resulted in the most important features associated with malignancy. The simultaneous presence of all these radiological signs constitutes an almost "certain" marker of malignancy, being the risk equal to 0.95, whereas the simultaneous presence of at least two of them entails a risk of malignancy ranging from 0.56 to 0.74, according to the type of morphological features. On the other hand, the absence of the mentioned radiological features entails a negligible risk of malignancy (0.02). Mucinous cystic tumors characterized by multilocular macrocystic architecture, with thick wall and calcifications in the wall and/or the septa, present the highest risk of malignancy, and advocate prompt surgical intervention. When those signs are absent, the probability of malignancy is lower. In this case a non-operative management is possible.

Adult↗

Electrochemical impedance spectroscopy and X-ray photoelectron spectroscopy study of the response mechanism of the chalcogenide glass membrane iron(III) ion-selective electrode in saline media.

The response mechanism of the iron(III) chalcogenide glass membrane ion-selective electrode (ISE) in saline media has been studied using electrochemical impedance spectroscopy (EIS) and X-ray photoelectron spectroscopy (XPS). EIS equivalent circuits and XPS surface compositions for the FeIII ISE are consistent with the presence of two surface films probably comprising a outer surface layer (OSL) and an Fe-deficient modified surface layer (MSL), along with a low-frequency charge-transfer impedance that is attributable to the reduction of Fe3+. In accordance with literature data for the conductivity of low-bearing iron(III) chalcogenide glasses, a high-impedance MSL is internally consistent with XPS data for an Fe-deficient MSL. It is evident that the impedance of the MSL diminishes on exposure to solutions containing Fe3+, and this finding is consistent with the ion exchange of Fe3+ within the MSL. Likewise, the charge-transfer impedance also decreases at elevated levels of Fe3+, demonstrating that Fe3+ is a participant in the reversible charge-transfer reaction occurring at the electrolyte/electrode interface. The kinetics of charge transfer are facilitated by Fe chelating agents (e.g., citrate, salicylate, EDTA, etc.) due presumably to the complexation of the products of the charge transfer process (possibly Fe2+). It is shown unequivocally that the response of the FeIII ISE in saline buffers is independent of pH, demonstrating that the ISE is responding directly to Fe3+, not H+. A mechanism involving a combination of charge transfer and ion exchange of FeIII, at the electrode diffusion layer, has been proposed to explain the 30 mV/decade slope of the FeIII ISE.

Chalcogens↗

Measuring contrast sensitivity in patients with Graves' ophthalmopathy complicated by ocular hypertension and suspect glaucoma or dysthyroid optic neuropathy.

The present study compares contrast sensitivity functions of patients with uncomplicated Graves' ophthalmopathy, patients with ophthalmopathy and elevated intraocular pressure or suspect glaucoma, and patients with dysthyroid optic neuropathy (DON). Aim of the study was to investigate the clinical potential for the contrast sensitivity functions (CSF) in distinguish between the groups. Contrast sensitivity measurements were obtained from twenty-seven subjects with endocrine ophthalmopathy. Group I included patients with uncomplicated ophthalmopathy (n=20 eyes); group II included patients with ophthalmopathy, intraocular pressure > or = 24 mmHg with and without early visual field defects, and no evidence of apical crowding on coronal computed tomography scan (n=14 eyes); group III included patients with DON (n=12 eyes). Contrast thresholds were determined for stationary and 6.87 Hz phase-alternating gratings at eight spatial frequencies from 0.18 to 15.7 c/deg. Data from each group was compared with data from age-matched normal subjects. Observers with uncomplicated ophthalmopathy had normal CSFs. Eyes affected with DON showed contrast sensitivity disruption at overall intermediate-high spatial frequencies. Eyes with elevated intraocular pressure or suspect glaucoma had pronounced sensitivity loss in the low frequency range (0.18-0.70 c/deg) as compared to eyes with DON. This study shows that CSF detects visual function abnormalities noninvasively in patients with complicated Graves' ophthalmopathy. Results also indicate that the clinical potential for CSF in distinguish between patients suffering from ophthalmopathy complicated by ocular hypertension or suspect glaucoma and patients with DON improves when a temporal modulation of 6.87 Hz and gratings of low spatial frequency (< 1 c/deg) are used.

Adult↗

Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation.

Malignant autosomal recessive (AR) osteopetrosis represents an absolute indication for bone marrow transplantation (BMT). Over the last 15 years, almost 100 BMTs for osteopetrosis have been reported. The median age at transplant of most patients is 4 months. Very few cases of mild AR osteopetrosis have been described. Here, we report the good outcome of two cases of mild AR osteopetrosis with a follow-up of 5 and 6 years, respectively, after an HLA-identical sibling transplant undergone at 5 and 12 years of age, respectively. At the time of BMT, severe visual impairment was present in both children. Bone biopsy demonstrated hypermineralization with virtual obliteration of the medullary spaces, rare microfoci of hematopoiesis and marked deficiency in osteoclastic activity. Successful engraftment was complicated by hypercalcemia, controlled by a combination of bisphosphonate, phosphate infusions, vigorous hydration and calcitonin. Following BMT, radiological and histological findings showed extensive bone resorption with marked augmentation of the osteoclasts in normalized marrow. No improvement was observed in visual acuity, despite complete remodeling of skeletal abnormalities. We conclude that allogeneic BMT is the only chance of curing mild AR osteopetrosis.

Biopsy↗

Autonomic dysfunction in children with Hirschsprung's disease.

During embryogenesis, two different transmembrane receptors, Ret and Ednrb, together with their ligands, respective, GDNF and endothelin-3, are involved in the migration and differentiation of enteric ganglion cells, sympathetic neurons and melanocytes from the neural crest. Mutations in these genes have been found in a number of human and murine neurocristopathies, including Hirschsprung's disease. RET and GDNF knockouts suggest that they are involved in a correct autonomic nervous system formation. The aim of this study is the evaluation of the autonomic nervous system in patients with Hirschsprung's disease. Seventeen children (mean age: 8.6 years) with Hirschsprung's disease and 19 age- and sex-matched control children (mean age: 9.9 years) underwent pupillary and cardiovascular testing of sympathetic adrenergic and cholinergic function and cardiovagal cholinergic function. Seven of 17 patients with Hirschsprung's disease were affected by autonomic dysfunction. Three of seven patients had evidence of sympathetic denervation, two showed a parasympathetic dysfunction, whereas the remaining two had dysfunction of both sympathetic and parasympathetic tests. Our data in a small number of patients with Hirschsprung's disease show that a subset of these patients exhibits measurable autonomic dysfunction. A RET mutation has been found in one of them. As for the absence of the enteric ganglion cells, autonomic dysfunction in these subjects seems to be polygenic.

Adolescent↗

Continuous flow methods for evaluating the response of a copper ion selective electrode to total and free copper in seawater.

This work describes the development of an instrument for measuring free and total copper in seawater by continuous flow analysis (CFA) with an Orion copper (II) ion selective electrode (CuISE). Sample analysis times are reduced considerably by using an extrapolation technique based on the fitting of an empirical mathematical expression to the electrode time-response curve enabling a prediction of the final equilibrium potential. CuISE measurements in seawater samples containing nanomolar levels of total copper can be very time consuming, and this predictive approach significantly reduces sample analysis time, and improves sample throughput. The time taken to measure pCu in seawater to a precision of +/- 0.1, using conventional potentiometry, varies considerably depending on the condition of the electrode membrane but can be reduced by a factor of 3-6 (typically from 60 to 10 min) by using the extrapolation technique in conjunction with CFA. Details are given of the protocols used for preconditioning the CuISE. The system can be used as a portable instrument for field measurements or for shipboard measurements of free copper in seawater. Extrapolated equilibrium potentials are within +/- 0.5 mV of true steady state values.

Chemistry Techniques, Analytical↗

Presence of bilateral limbal dermoids and choroidal osteomas in a family with inherited limbal dermoids.

We report a case of bilateral limbal dermoids and bilateral choroidal osteomas in a 14-year-old girl with no extraocular anomalies. Histopathological examination of a limbal lesion confirmed the clinical diagnosis of dermoid. Computerized tomography and ultrasonography were compatible with a diagnosis of choroidal osteoma. Limbal dermoids were present in the patient's mother, in a brother with Down syndrome, and in an aunt with no choroidal osteoma. The present pedigree is compatible with autosomal dominant inheritance of bilateral limbal dermoids. The same gene may be involved in the pathogenesis of ocular choristomas in same patients.

Adolescent↗

The role of occupation and a past history of malaria in the etiology of classic Kaposi's sarcoma: a case-control study in north-east Sardinia.

A case-control study was performed to determine the role of rural factors including occupation and previous malaria exposure in the development of classic Kaposi's sarcoma (CKS) in a high incidence area of Europe. The occurrence of CKS association with other malignancies was also examined. The results showed that the risk of having CKS was significantly increased in subjects farming cereals, while a previous history of malaria did not influence the risk of developing CKS. A near-significant increase in associated tumours was found.

Aged↗

Inadequate antiasthma drug use in the north of Italy.

A multicentre survey of prevalence, determinants and management of asthma (the European Community Respiratory Health Survey (ECRHS)) has shown that the ratio of subjects declaring current use of antiasthmatic drugs to those reporting asthma attacks in the previous 12 months was particularly low (0.54) in the north of Italy. In this study, we used a standardized clinical interview to gather a more detailed insight into the issue of asthma undertreatment in the north of Italy. A total of 1,104 subjects were interviewed, 116 of whom had been defined as asthmatic by the family doctor. Fifty subjects had current asthma and 66 had a history of previous asthma. A considerable percentage (26%) of subjects with current asthma were not being treated with antiasthmatic therapy. Even when only patients with severe asthma were considered, the percentage of untreated patients was still high (21%). Forty two per cent of subjects used inhaled beta2-agonists alone, 28% inhaled steroids plus beta2-agonists, 2% inhaled steroids alone and 2% other drugs. Only 19% of the asthmatics on treatment, 85% of whom had more severe asthma, received daily treatment. Only 65% of the subjects who had received antiasthmatic drug prescriptions declared they had taken all the drugs prescribed; this percentage was 74% when respiratory symptoms were worsening. Of the patients with past asthma, 18% had taken antiasthmatic drugs. Most of these patients were those who had had more severe asthma. In conclusion, antiasthmatic drugs are underused in the north of Italy, at least in part due to low compliance.

Adult↗

Classical Kaposi's sarcoma in north-east Sardinia: an overview from 1977 to 1991.

The incidence of classical Kaposi's sarcoma in 1977-91 was studied in north-east Sardinia. In this period, 160 new cases were observed in a defined area, of which 124 were in males. This represented a standardised incidence of the disease of 1.58/100,000 inhabitants per year (2.43 for males and 0.77 for females). This is the highest incidence of classical Kaposi's sarcoma so far recorded. The incidence increased with age, particularly after the age of 70 in males.

Adult↗

Visual dysfunction in patients with mitochondrial myopathies. I. Electrophysiologic impairments.

Seventeen patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia underwent electroretinography and visual evoked potential testing to checkerboard-reversal stimuli to investigate subclinical visual dysfunction. Seven patients (41%) had impaired Snellen visual acuity that was never less than 0.6. Thirteen patients (76%) showed electroretinographic and/or visual evoked potential alterations, whereas six (35%) showed impairment on both tests. Two patients showed delayed VEP P100 latency without fundus, electroretinographic or visual acuity anomalies. Visual dysfunctions were not related to age at onset and course of the disease.

Adolescent↗

Visual dysfunction in patients with mitochondrial myopathies. II. Contrast sensitivity function.

Contrast sensitivity function with stationary and temporally modulated (8 Hz) black and white vertical sinusoidal gratings was investigated in 11 patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia. To evaluate contrast sensitivity function results, the contrast sensitivity versus spatial frequency experimental data for each subject were fitted with a second-order polynomial, and the coefficients of the best-fitting function from normal and patient groups were compared. Patients with progressive external ophthalmoplegia, as a group, showed a decreased sensitivity at the intermediate spatial frequencies (i.e., around 1.4 c/deg) with stationary gratings and through a wider range of spatial frequencies with temporally modulated gratings. These findings were confirmed by analyzing contrast sensitivity functions from each individual. The study showed that contrast sensitivity function detects visual function abnormalities noninvasively in a number of patients with mitochondrial progressive external ophthalmoplegia with unaffected Snellen visual acuity.

Adult↗