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Biomedical subjects

F Carinci

Publications and source records attributed to F Carinci.

At least 73 records · Page 4Linked to original sources

Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (CL+/-P) is a congenital orofacial anomaly that derives from an embryopathy with failure of nasal process and palatal shelves fusion. CL+/-P is one of the most common malformations, affecting 1/700-1/1000 live births among Caucasians. Early investigations have suggested that a clefting gene may be located on the short arm of chromosome 6 (6p), as well as in other regions. In this study, we analyzed a large sample of families by using eight PCR markers that map on chromosome region 6p23-p24. The admixture test, as implemented in the HOMOG program, was significant when tested against multipoint data (alpha = 0.60, P value 0.00004); the lod score calculated, assuming heterogeneity, was 3.60 at 1 cM telomeric to D6S259. Taken together these data demonstrate the presence of a locus for CL+/-P in the 6p23 chromosome region.

Chromosomes, Human, Pair 6↗

Patterns of care an Italian diabetic population. The Italian Study Group for the Implementation of the St Vincent Declaration, Società Italiana di Diabetologia, Associazione Medici Diabetologi.

We set out to describe patterns of care of an Italian diabetic population, with reference to the recommendations of the St Vincent Declaration. We investigated different aspects of care received by 2707 patients, of whom 2196 in the charge of 35 Diabetes Outpatient Clinics (DOCs) and 511 cared for by 49 General Practitioners (GPs). Data were collected by interviewing the patients, their physicians and by reviewing medical records. Our data show that diabetes care in Italy differs in many aspects from the recommendations of the St Vincent Declaration. Glycated haemoglobin measurement was lacking in 50% of the patients in the charge of GPs and in 15% of those attending DOCs. While the control of cardiovascular risk factors was satisfactory, information on albumin excretion was not available in one third of the patients. Overall, 79% of the patients had had an eye examination in the previous 12 months. More than one-third of the patients had not received adequate information on different aspects of care, with wide variations according to the setting of care. Forty-two per cent of the patients attending DOCs and 14% of those cared for by GPs practised blood glucose self-monitoring; similarly, insulin therapy self-management was performed by 50% and 19% of the patients attending DOCs and GPs, respectively. Our data call for vigorous efforts aimed at improving the awareness of the potential for reducing major diabetic complications. Therefore, it is essential to promote the incorporation of clearly defined clinical practice guidelines at each level of care.

Aged↗

Apert's syndrome: differential in vitro production of matrix macromolecules and its regulation by interleukins.

During embryonic development, variations in the composition of the extracellular matrix (ECM) macromolecules influence bone tissue differentiation. We present novel findings on the in vitro phenotypic expression of periosteal fibroblasts obtained from patients affected by Apert's syndrome, a rare craniofacial malformation, and the effects that interleukins (ILs) induce on the phenotype. Apert fibroblasts synthesized greater quantities of glycosaminoglycans (GAGs) and intracellular type I collagen, and also produced more type III collagen and fibronectin. The amount of hyaluronic acid (HA) secreted by Apert fibroblasts was much higher than that secreted by normal fibroblasts, but, as the absolute values of heparan sulphate (HS), chondroitin sulphate (CS) and dermatan sulphate (DS) also rose in Apert media, the HA-sulphated GAG ratio was similar in the media obtained from both populations. Both ILs triggered elevations of HA in normal cells, although relative percentage secretion remained unaltered, but significantly reduced HA secretion by Apert cells. IL-1 significantly increased CS in normal and Apert media, whereas IL-6 enhanced HS and DS in media of both populations. HA-sulphated GAG ratio decreased in Apert media after IL treatment. Both ILs boosted fibronectin production by Apert fibroblasts, whereas IL-1 increased type III but not type I collagen. Taken together, these data demonstrate that the synthesis and secretion of ECM macromolecules are markedly altered in Apert fibroblasts. The fact that treatment with ILs further modifies the Apert phenotype suggests that ILs may be implicated in the pathophysiology of the malformations during skull morphogenesis.

Acrocephalosyndactylia↗

Role of interactions between psychological and clinical factors in determining 6-month mortality among patients with acute myocardial infarction. Application of recursive partitioning techniques to the GISSI-2 database. Gruppo Italiano per lo Studio della Sopravvivenza nell' Infarto Miocardico.

BACKGROUND: Clinical and epidemiological studies support the hypothesis that ischaemic cardiovascular diseases are consistently associated with psychological, social and behavioural factors. Nevertheless, the joint effect of clinical characteristics and psychological variables in determining the prognosis of acute myocardial infarction survivors has been seldom investigated. METHODS AND RESULTS: In the framework of the GISSI-2 trial, the impact of psychological factors on 6-month mortality and their interaction with clinical features was included as an ad hoc research project. Overall, 2449 patients were evaluated, 63 of whom died during the study period. All patients undertook a self-administered questionnaire (Cognitive Behavioural Assessment Hospital Form), investigating 16 psychological dimensions relative to three areas (state variables, vital exhaustion, trait variables). The impact of psychological variables on prognosis and their interaction with clinical variables were investigated by using a tree-growing technique (RECursive Partitioning and AMalgamation-RECPAM) applied to survival analysis. This statistical method allowed the identification of three separate classes, characterized by different prognoses: Class I (presence of vital exhaustion), Class II (concomitance of no vital exhaustion, depression and low levels of anxiety) and Class III (all other patients). After adjusting for the clinical variables, Class I was associated with an intermediate prognosis (hazard ratio [HR] = 2.2; 95% confidence intervals [CI], 1.2-4.0) and Class II to the worst (HR = 3.2; 95% CI = 1.6-6.2), as compared to Class III. High levels of neuroticism and extroversion were associated with a better prognosis. When clinical and psychological variables were simultaneously investigated by RECPAM, Type A behaviour was shown to be an important risk predictor among patients with better clinical conditions, i.e. those eligible for exercise test (HR = 2.6, 95% CI = 1.2-5.5). Finally, a striking difference in the impact of the most predictive clinical variables (exercise test ineligibility, late and early ventricular failure) was found among patients with and without vital exhaustion. CONCLUSIONS: This study shows that acute myocardial infarction survivors are heterogeneous with respect to 6-month mortality according to their psychological profile. More important, the impact of these variables appears comparable to that of very well known clinical risk predictors. The availability of a large study population, together with the use of innovative statistical techniques, allowed us to identify subgroups of patients for whom the joint action of clinical and psychological characteristics has been clearly documented. This suggests the need for incorporating psychological evaluation in the care of acute myocardial infarction patients.

Cohort Studies↗

Site-dependent survival in cancer of the oral cavity.

A series of 100 patients affected by primary squamous cell carcinoma of the oral cavity treated at the Ear, Nose, and Throat Clinic of Ferrara from January 1980 to December 1989 was considered in this retrospective study. Data set was classified according to Union Internationale Contre le Cancer staging system. Results showed a crude survival rate at 5 years of 54%. Tumor site of origin and N, adjusted for sex and age of patients were the most important prognostic variables for survival rate. T stage and therapy did not achieve a significant value in the correlation with survival rate when used as covariates in multivariate analysis. The present study demonstrates that survival decreases the closer the tumor origin is to the inner sites of the mouth and in relation to N status. In cases with these characteristics, multimodality treatment protocols are useful in improving survival.

Adult↗

Primary malignancies of the nasal fossa and paranasal sinuses: comparison between UICC classification and a new staging system.

There is not a general accepted classification for tumor of nasal cavity and paranasal sinuses, and furthermore, there is a lack in the most commonly used T staging, the Union Internationale Contre Cancer (UICC) and the American Joint Committee on Cancer systems, which offer a classification strictly for tumors of the maxillary antrum. A new T staging (NTS) has been proposed: It is applicable to neoplasms arising from the mucosa of nasal fossa and all paranasal sinuses. To evaluate the advantages of NTS, a retrospective analysis of 54 cases of paranasal sinus cancers in patients admitted between 1983 and 1993 was undertaken. Tumors were staged according to UICC and to NTS systems, and then a statistical comparison was performed. Univariate analysis stratified according with T stage, tumors origin, and treatment modalities demonstrated different survival rates in both systems. Multivariate analysis showed a higher risk of death into the T4 category coded according with NTS with respect to UICC system. We concluded that NTS offers some advantages: (1) It presents a general view of the maxillofacial cavities; (2) it prognosticates successfully for T stage (1-4); (3) it gives significant improvement in detecting the risk of death for T4 when compared with the UICC system.

Adult↗

Meta-analysis, clinical trials, and transferability of research results into practice. The case of cholesterol-lowering interventions in the secondary prevention of coronary heart disease.

OBJECTIVE: To evaluate, in the comprehensive scenario of "evidence-based" medicine, the transferability of the results of published randomized clinical trials and meta-analyses on cholesterol-lowering interventions to clinical practice. METHOD: Overview of randomized clinical trials on cholesterol-lowering interventions in the secondary prevention of coronary heart disease. RESULTS: The present overview on secondary prevention of coronary heart disease included 34 trials with cholesterol-lowering interventions in 24968 individuals. There was a 12.5% mortality in the group that was allocated active intervention and a 17.2% mortality in the control group (risk reduction, 13%; 95% confidence interval, -19% to -6%). Coronary and cardiovascular odds of deaths were significantly reduced. No clear association was found between noncoronary mortality and cholesterol-lowering interventions. Baseline total cholesterol levels had no clear influence on total mortality. Intermediate (10%-20%) and high ( > 20%) total cholesterol reductions were associated with similar reductions in the odds of death (-23% and -30%, respectively). No conclusion could be reached for patients who were less represented in the studies (ie, women and elderly persons). Patients with more complicated baseline clinical conditions (eg, congestive heart failure) had little nonsignificant benefit from cholesterol-lowering interventions. CONCLUSIONS: The effect of cholesterol-lowering interventions at least in the secondary prevention of coronary heart disease can be considered as established, but the transferability of such results to real-life patients remains the critical, unanswered question.

Anticholesteremic Agents↗

A meta-analysis of trials on aldose reductase inhibitors in diabetic peripheral neuropathy. The Italian Study Group. The St. Vincent Declaration.

Peripheral neuropathy is one of the most common and disabling long-term sequelae of diabetes mellitus. Aldose reductase inhibitors (ARIs) have been proposed and are increasingly used in many countries for the prevention and treatment of diabetic neuropathy. The aim of this study was to review existing evidence on the effectiveness of ARIs in the treatment of peripheral diabetic neuropathy, with particular reference to the type and clinical relevance of the end point used and to the consistency of results across studies. Thirteen randomized clinical trials (RTCs) comparing ARIs with placebo, published between 1981 and 1993 were included in the meta-analysis. Nerve conduction velocity (NCV) was the only end point reported in all trials. Treatment effect was thus evaluated in terms of NCV mean difference in four different nerves: median motor, median sensory, peroneal motor, and sural sensory. A statistically significant reduction in decline of median motor NCV was present in the treated group as compared to the control group (mean 0.91 ms-1; 95% CI 0.41-1.42 ms-1). For peroneal motor, median sensory, and sural sensory nerves results did not show any clear benefit for patients treated with ARIs. When the analysis was limited to trials with at least 1-year treatment duration, a significant effect was present for peroneal motor NCV (mean 1.24 ms-1; 95% CI 0.32-2.15 ms-1) and a benefit of borderline statistical significance was also present for median motor NCV (mean 0.69 ms-1; 95% CI-0.07-1.45 ms-1). A heterogeneous picture emerged when looking at the results of different studies and serious inconsistencies were also present in the direction of treatment effects among nerves in the same studies. Although the results of 1-year treatment on motor NCV seem encouraging, the uncertainty about the reliability of the end-point employed and the short treatment duration do not allow any clear conclusion about the efficacy of ARIs in the treatment of peripheral diabetic neuropathy.

Aldehyde Reductase↗

Effects of interleukins on Crouzon fibroblast phenotype in vitro. Release of cytokines and IL-6 mRNA expression.

In Crouzon's syndrome, the cranial morphogenic processes are altered due to the early fusion of the facial and basal cranial bones. Evidence that Crouzon fibroblasts have an altered phenotype which is modulated by interleukin 1 (IL-1) and interleukin 6 (IL-6) is provided. [3H]Thymidine incorporation and cell count studies showed that Crouzon fibroblasts have an accelerated proliferation rate. [3H]Glucosamine incorporation studies, followed by chromatography analysis of culture medium samples, revealed that the various classes of glycosaminoglycans (GAG) secreted into the medium were differently distributed in Crouzon and normal fibroblasts. Crouzon fibroblasts secreted less total GAG, particularly hyaluronic acid (HA) and heparan sulfate (HS), but a relatively greater quantity of chondroitin sulfate. Type I and III collagen were raised in Crouzon fibroblast medium whereas the concentration of fibronectin was lower than in normal cells. Interleukin treatment induced changes in cell growth and neosynthesis of extracellular matrix macromolecules. Both IL-1 and IL-6 stimulated proliferation of Crouzon fibroblasts, whereas only IL-6 increased [3H]thymidine incorporation in normal cells. IL-1 provided a drop in HA and a rise in GAG sulfates in normal fibroblasts, but caused an opposite effect in Crouzon fibroblasts. Type I collagen and fibronectin secretions are differently modulated by the cytokines in the two populations. Moreover, level of IL-1 able to stimulate [3H] thymidine incorporation into mouse thymocytes, and level of IL-1 receptor antagonist (IL-1ra), as determined by ELISA, were higher in pathological than in normal fibroblasts. Also evidence that levels of IL-1 alpha and IL-6 proteins measured by ELISA and also IL-6 mRNA expression are enhanced in Crouzon fibroblasts is provided. These novel data suggested that, in Crouzon's syndrome, the modifications in the relative concentrations of the extracellular matrix (ECM) components associated with the abnormal cytokine networks may alter the balance of the microenvironment where the morphogenic events take place.

Adolescent↗

Epidemiology and determinants of blood glucose self-monitoring in clinical practice.

The aim of this study was to describe the epidemiology of self-monitoring of blood glucose and to identify specific characteristics of those subgroups of diabetic patients treated with insulin that are most likely to monitor their blood glucose according to medical recommendations. Data were collected on 1384 insulin-treated patients, enrolled from 35 diabetic outpatient clinics and 49 general practitioners' offices between December 1993 and June 1994. Seventeen Italian regions out of 20 were included in the study. Our data show that 418 (31%) diabetic patients treated with insulin had never practised blood glucose self-monitoring. In addition, only 242 patients (18.2%) self-monitored their glycemia with a mean frequency of at least once a day (29.7% among insulin-dependent diabetes mellitus (IDDM) and 13.9%, among insulin-treated non-insulin-dependent diabetes mellitus (NIDDM-IT) patients). Patients' characteristics associated with a higher probability of practising blood glucose self-monitoring were age below 50 years, being treated at a diabetic outpatient clinic, hypertension, need of three or more insulin injections per day, history of hypoglycemic episodes, ability to self-manage insulin doses. Our study calls for vigorous efforts aimed at promoting the incorporation of clearly-defined educational programs at each level of care, in order to improve the motivation and self-care of diabetic patients. Furthermore, studies are necessary to identify subgroups of diabetic patients that truly need to self-monitor blood glycemia, and to assess the efficacy of the practice of self-monitoring of blood glucose in improving metabolic control and reducing acute and long-term diabetic complications.

Aged↗

Validation of a computerised measurement system for guided routine evaluation of cardiovascular autonomic neuropathy.

A study for evaluating the use of the Cardionomic system was conducted in six Italian Centres for Diabetes. Cardionomic is a portable computerised system that is used for a guided step-by-step performance of several cardiovascular tests for autonomic neuropathy (heart rate and blood pressure). It has been compared to the traditional method using an electrocardiograph. In this study, which involved 74 diabetic patients, 392 cardiovascular tests were conducted with the electrocardiograph and 392 were done using the portable system. The results were compared to the results obtained with the ECG assuming the latter as the standard ones. All the indices of validity that were investigated (sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, negative likelihood ratio) indicate that the proposed system is reliable. Because it saves a considerable amount of time and is also easy to use, it represents a valid alternative for the routine screening of autonomic neuropathy.

Adult↗

Cancer of the nasal cavity and paranasal sinuses: a new staging system.

This study proposes a new staging system for cancer of the paranasal sinuses on the basis of two concepts. The first concept is that the nasal cavity and the paranasal sinuses form a single unit. Consequently, the mucosa of each sinus may give rise to tumors. The histopathologic variation will be the same for all these cavities. The second concept is that the staging of these tumors depends both on the nature of the neoplastic cells and on the specific bone boundaries which surround the anatomic site and subsites. We analyzed 61 cases and we emphasize the need for a differential analysis of T4 tumors depending on which adjacent region is involved.

Adenocarcinoma↗

Ultrastructural and histochemical features of the ground substance in cyclosporin A-induced gingival overgrowth.

The overgrowth-affected gingiva of patients treated with cyclosporin A after kidney transplant was examined with ultrastructural and histochemical methods to evaluate the involvement of connective tissue. Gingival overgrowth has the same clinical signs as local edema. The ultrastructural study showed that the dimensional increase was largely due to increased production of amorphous ground substance by fibroblasts, possibly resulting from an increased release of histamine by mast cells. The histochemical data revealed that the affected tissues contained higher levels of glycosaminoglycans and that cyclosporin A induced comparably high levels of glycosaminoglycans in in vitro cultures of fibroblasts obtained from normal gingiva. The combination of ultrastructural and histochemical data, therefore, strongly suggests that the response of the connective tissue in gingival overgrowth cannot be ignored and may be the main cause of the observed pathological condition.

Alcian Blue↗

The efficacy of tolrestat in the treatment of diabetic peripheral neuropathy. A meta-analysis of individual patient data.

OBJECTIVE: The aim of this meta-analysis was to review the existent evidence on the effectiveness of tolrestat in the treatment of diabetic peripheral neuropathy. RESEARCH DESIGN AND METHODS: Individual patient data on 738 subjects from the three randomized clinical trials published on this topic were analyzed using changes in motor nerve conduction velocities (NCVs) as endpoints. Nerves investigated included median, ulnar, tibial, and peroneal. RESULTS: The pooled analysis of NCV taken as a continuous measurement showed a significant treatment effect, the magnitude of this benefit being approximately equal to 1 m/s for all the nerves investigated. When looking at the proportion of patients experiencing a loss of NCV of at least 1 or 2 m/s in at least two out of the four nerves investigated, it emerged that treatment reduced by > 40% the risk of such outcomes after adjusting for patients' characteristics. The odds ratios relative to the placebo group were 1.82 (1.30-2.52) and 1.70 (1.15-2.48) for a decrease of 1 and 2 m/s, that is, placebo-treated patients have an 82 and 70% increased risk for a loss of nerve function of 1 and 2 m/s, respectively. No statistically significant difference in treatment effect emerged after stratification according to baseline motor NCV and glycated hemoglobin levels. CONCLUSIONS: After a treatment duration ranging between 24-52 weeks, patients treated with tolrestat had a reduced risk for developing nerve function loss compared with placebo-treated patients. Future long-term trials are needed to evaluate the impact of the treatment on more clinically meaningful endpoints such as the development of foot complications.

Aldehyde Reductase↗

A comprehensive assessment of the avoidability of long-term complications of diabetes. A case-control study. SID-AMD Italian Study Group for the Implementation of the St. Vincent Declaration.

OBJECTIVE: To identify and quantify risk factors for the development of long-term diabetic complications (i.e., critical limb ischemia, amputation, chronic renal failure [creatinine > 3 mg/dl], dialysis treatment, proliferative retinopathy, blindness), with particular emphasis on those variables that, being related to quality of care, can be considered avoidable. RESEARCH DESIGN AND METHODS: We designed a case-control study that enrolled 886 patients with long-term diabetic complications and 1,888 control subjects without complications from 35 diabetic outpatient clinics and 49 general practitioners offices during a 6-month period. Selected socioeconomic, pathophysiologic, self-care, health care, and lifestyle information were collected for all patients. RESULTS: A logistic regression analysis showed that several factors are related to the development of major diabetic complications. Among patient characteristics, male sex (odds ratio [OR] = 1.8, 95% CI 1.4-2.3) and age (OR = 1.7, 95% Cl 1.2-2.4 for patients between 50 and 69 years of age as opposed to those younger than 50 years of age) were associated with an increased risk of complication. Among clinical variables, the type and the duration of diabetes were the most important predictors of diabetic complications. The presence of hypertension was also associated with the development of diabetic complications, particularly when it was poorly controlled by treatment (OR = 3.1, 95% CI 2.3-4.3). Patients who needed help to reach a health care facility and those who did not regularly attend such a facility were at higher risk of developing complications (OR = 1.5, 95% CI 1.2-1.9; OR = 1.7, 95% CI 1.3-2.2, respectively). Educational aspects were also related to the outcome: patients who did not receive any kind of educational intervention had an increased risk of developing complications (OR = 4.1, 95% CI 1.7-9.7), while self-management of insulin therapy had a protective effect (OR = 0.6, 95% CI 0.5-0.8). The summary attributable risk related to avoidable risk factors (i.e., uncontrolled hypertension, poor compliance with visit scheduling, inadequate diabetes education, no self-management of insulin treatment) was 0.39. CONCLUSIONS: Our data suggest that, by removing avoidable risk factors, the number of diabetic complications considered could be reduced by more than one-third. The case-control methodology represents an efficient way of monitoring clinical practice and relating it to important outcomes. It can be of help for policy makers in identifying the more effective strategies and in tailoring specific interventions aimed at improving the quality of the care delivered to diabetic patients.

Adult↗

[Psychological characteristics of patients with infarction: results of the GISSI-2. Italian Group for the Study of Survival in Myocardial Infarction (GISSI)].

OBJECTIVE: To provide a thorough psychological examination of patients with documented myocardial infarction (MI) enrolled in a multicenter randomized clinical trial (GISSI-2). The psychosocial variables examined include: state variables (anxiety, health-related fears, depression), psychophysical well-being in the three months preceding the acute event (depressive mood, impaired sense of well-being, perceived stress) and trait variables (Type-A Behavior (TAB), neuroticism, introversion/extroversion, social anxiety and feelings of guilt in interpersonal relationships). POPULATION AND SETTING: A total of 2705 patients (12.5% females) admitted to 166 Italian Coronary Care Units. METHODS: Patients were administered the CBA-H, a standardized questionnaire with dichotomous responses (true/false), for a total of 152-item grouped into 16 scales. For each scale, the frequency of scores above cut-off values was computed and compared to patients' clinical and sociodemographic profile. RESULTS: Over one third of all patients scored above the clinical cut-off for anxiety and health-related fears, and 15% showed a depressive pattern. Forty percent of patients reported depressive mood and a diminished sense of well-being in the past three months preceding MI, and more than half perceived themselves as stressed. About one third of the sample overtly exhibited TAB traits and half reported neuroticism scores in the clinical range. One half of our sample could be identified as extrovert, and 14% as introverted. Feelings of guilt and social anxiety were registered respectively in 40% and 12% of the sample. A worse psychological profile was associated to female gender, older age, lower education, living alone and a worse cardiac asset. CONCLUSION: The study has documented the association between clinical, sociodemographic and psychological variables in a large sample of patients with IMA. While the impact of psychological variables upon patients' clinical outcome is to be evaluated, these data may be helpful in promoting the comprehensive and effective care of IMA patients.

Aged↗

[A case of hemifacial oculo-oral anomalies].

In the present work is described a female with an incomplete oral duplication. The occurrence of a supernumerary mouth is rare. Moreover, these cases present other anomalies that make each one relatively unique. In this context, in fact, the patient presented an association of oral manifestation and ocular anomalies. From a pathogenetic point of view, maxillary duplication probably arises from a partial doubling of growth centers around the stomodeal plate.

Abnormalities, Multiple↗