Persistent cow's milk protein intolerance in infants: the changing faces of the same disease

Background Recent research has shown that cow's milk protein intolerance (CMPI) often persists beyond 4 years of age. Aims To evaluate the clinical and immunological characteristics of a group of infants with persistent CMPI. Patients and methods Twelve infants (6 m, 6f) with persistent CMPI were followed up from birth until a median age of 5 years. The patients underwent CMP challenge each year to evaluate CMP-tolerance. As controls we followed 26 infants (12 m, 14 f) with CMPI that resolved within 1–2 years. Results A family history of atopic disease was found in 10/12 patients with persistent CMPI and in 10/26 controls (P < 0.01). Clinical presentation changed over time: at onset symptom…

Low-density-lipoprotein peak particle size in a Mediterranean population

Background The predominance of small, dense low-density lipoprotein (LDL) particles (‘LDL phenotype B’) has been associated with a three-fold increased risk of myocardial infarction, but the feasibility of the identification of small, dense LDL as independent predictors of coronary artery disease risk in population studies remains questioned. Design We evaluated the LDL peak particle size and its relation with other established risk factors for coronary heart disease in a group of 156 randomized subjects living on the Mediterranean island of Ustica (71 males and 85 women, range of age 20–69 years), representing approximately 30% of the total population. Results The prevalence of LDL phenoty…

Prevalence of diabetes mellitus and impaired glucose tolerance in cystic fibrosis.

The aim of this study was to evaluate the prevalence of impaired glucose tolerance or diabetes mellitus in 99 patients (53 M, 46 F; mean age 10.5 +/- 6.9 years), with cystic fibrosis. Glucose tolerance was evaluated in all patients without overt diabetes using the oral glucose tolerance test (OGTT). Six patients showed a pathological OGTT and 2 patients had insulin-requiring diabetes mellitus. The mean age of the patients with impaired glucose tolerance was significantly higher than that of the subjects with normal glucose metabolism (p less than 0.0001). Patients with overt diabetes mellitus were the oldest subjects in the study group.

Diagnostic use of fructosamine assay in the control of type II diabetes mellitus.

In an attempt to evaluate the usefulness of fructosamine assay in monitoring type II diabetes, 142 diabetic patients were investigated. Fructosamine values were found to be higher in patients on insulin treatment than on oral hypoglycemic agents. In order to evaluate the metabolic control by using the correlated variations of F, Gm and HbAlc, the patients were subdivided into many control classes: mean values of fructosamine were higher in poorly controlled patients. Fructosamine however correlated better with glycemia in patients with recent variations in metabolic state than HbAlc. It was concluded that fructosamine is a good index for short-term metabolic control, and if used in an integ…

Platelet aggregation, ATP release and cytoplasmic Ca2+ movement: the effects of cloricromene.

A placebo-controlled, double-blind, randomized, cross-over study was performed in 24 healthy volunteers. 12 volunteers received Cloricromene (100mg gastroresistant capsules twice a day) for 7 days, the other volunteers received identical placebo capsules. Subsequently, after a 7-day wash-out period, at day 15, each subject received the other treatment. Blood samples were taken on days 1 and 15 (1st day of each treatment) as well as on days 7 and 21 (7th day of each treatment) before the morning drug administration and 2 and 4 hours later. Platelet aggregation and ATP secretion were studied in whole blood (WB) using ADP and collagen as stimulating agents. Ca2+ fluxes were studied in aequorin…

COMPOUND HETEROZYGOUS FH AND FDB: IDENTIFICATION OF A SICILIAN FAMILY HARBOURING THE FDB3531 MUTATION AND THE Y398X MUTATION OF THE LDL RECEPTOR GENE.

The C(-260)T gene polymorphism in the promoter of the CD14 monocyte receptor gene is not associated with acute myocardial infarction.

CD surface molecules mediates cell activation and signaling. In particular, CD14 on blood monocytes mediate monocyte/macrophage activation by lipopolysaccharide. Lipopolysaccharide and its receptor, CD14, have been implicated in atherogenesis. It has been recently shown that a C(-260)T polymorphism in the promoter of the CD14 receptor may be a risk factor for coronary artery disease. Recently this association has been questioned because no increased risk was found with the T allele, even in the homozygous state. In the present study we investigated a possible association between the C(-260)T polymorphism in the CD14 promoter and acute myocardial infarction. Two hundred and thrteen patients …

A NOVEL COMPOUND HETEROZYGOUS MUTATION OF THE LIPOPROTEIN LIPASE GENE IN A NEWBORN WITH CHYLOMICRONEMIA

Effectiveness of Enteric-Coated Preparations on Nutritional Parameters in Cystic Fibrosis

To evaluate the effectiveness of enteric-coated pancreatic enzyme supplements in comparison to conventional preparations of ingested enzyme on growth and nutritional parameters of patients with cystic fibrosis, we conducted a long-term study involving 40 patients. The data reproduced here were recorded after 6 months of therapy with powder-containing capsules or with enteric-coated products. Fat absorption was estimated by measurement of steatorrhoea with the steatocrit method. All parameters studied improved after enteric-coated pancreatic enzyme therapy, with a statistically significant increase in weight, cholesterol and haemoglobin values. Furthermore, the number of patients with positi…

Extreme thrombocytosis as a sign of coeliac disease in the elderly: case report

Increase in the number of blood platelets to over 1 000 000/mm 3 in elderly patients is generally considered secondary to a myeloproliferative or neoplastic disease. To report the case of an elderly woman hospitalized for extreme thrombocytosis associated with severe anaemia, who was found to be suffering from coeliac disease. The patient, aged 83 years, was hospitalized presenting with fatigue. Laboratory tests showed microcytic hypochromic anaemia (haemoglobin 4 g/dl) and extreme thrombocytosis (platelet count 1 400 000/mm 3 ). Physical examination was normal, with the exception of marked thinness. There was no evidence of macroscopic bleeding from the gastrointestinal or genitourinary tr…

Increased plasminogen activator inhibitor antigen levels in diabetic patients with stable angina

PAI-1 antigen, tPA antigen and thrombin - antithrombin III complexes (TAT) levels were measured in 10 males with stable angina and type-II diabetes mellitus and in 16 males with stable angina without diabetes or other risk factors (hyperfibrinogenaemia, hyperlipidaemia, diabetes, hypertension, smoking and obesity) known to increase PAI levels. Ten healthy men of equivalent age served as controls. Because only diabetics with coronary artery disease (CAD) showed a decreased fibrinolytic capacity, a second study was performed on the 16 non-diabetic CAD patients to determine whether submaximal workload induces significant changes of tPA and PAI levels. TAT levels were increased in CAD, and sign…

Lipid and Apoprotein Profile in Renal Transplant Recipients

Lipid and apoprotein profiles of renal transplant recipients were compared with that of a group of uremic patients on hemodialytic treatment. Total cholesterol, HDL-cholesterol, apo AI and apo B were higher and triglycerides, apo CII, apo CIII and apo E lower in renal transplant patients. Type IIa and IIb were the prevalent phenotypes in renal transplant recipients.

Prevalence of overweight and obesity in a rural southern Italy population and relationships with total and cardiovascular mortality: the Ventimiglia di Sicilia project.

OBJECTIVE: We investigated the prevalence of overweight and obesity and their relationships with the main cardiovascular risk factors in the population of Ventimiglia di Sicilia, a rural village in Southern Italy characterized by low cholesterol levels and by a low incidence of early coronary heart disease mortality. We related all deaths to body weight and fat distribution during an 8 y follow-up. DESIGN: Cross-sectional and prospective observational study. SUBJECTS: A total of 835 free-living individuals, 363 males and 472 females, of age between 20 and 69 y. MEASUREMENTS: In all participants body weight, waist-to-hip ratio (WHR), cardiovascular risk factors and plasma lipids were measure…

Comparison of BT-PABA test and fecal chymotrypsin measurements in normal subjects and diabetic patients

A N-benzoil-L-tyrosil-PABA test on 6h urine collection, a plasma PABA assay 2 h after administration and a fecal chymotrypsin assay were performed on 66 patients (36 controls and 30 type 2 diabetic patients on insulin therapy). All patients were hospitalized and without gastrointestinal and renal disease. The mean values of plasmatic PABA and fecal chymotrypsin were significantly lower in the diabetic group than in the controls (p less than 0.025 and p less than 0.01, respectively), although they remained within normal range. But this was not the case for PABA urinary excretion values. This may indicate a slower but more protracted PABA absorption during the third or fourth hour with the re…

Obesity and the metabolic syndrome in a student cohort from Southern Italy

Abstract Background and aim Cardiovascular (CV) risk factors present in childhood predict future CV events. Few data regarding the metabolic syndrome (MS) prevalence are available in adolescents from Mediterranean areas where obesity is becoming a social emergency. This study presents data of MS prevalence in a student cohort from southern Italy. Methods and results 1629 students between 7 and 14 years of age underwent anthropometric measurements and a blood sample was obtained to assess biochemical parameters. MS risk factors were calculated based on age and gender adjusted percentiles of parameter distributions. MS prevalence rate was 0.022 using paediatric, age-adjusted criteria; the rat…

Interleukin 6 plasma levels predict with high sensitivity and specificity coronary stenosis detected by coronary angiography

SummaryIn recent years new biomarkers able to measure the coronary atherosclerotic burden have been investigated. The aim of the present study was: i) to measure plasma levels of four biomarkers: C reactive protein (CRP), soluble intercellular adhesion molecule-1 (sICAM-1), interleukin 6 (IL-6), 8-isosprostane (8-ISO),in a series of patients undergoing coronary angiography; ii) to assess the power of the biomarkers to predict critical coronary stenosis detected by angiography. The study population consisted of a group of 438 subjects undergoing coronary angiography; 160 patients with 0, 1, 2, or 3 critical vessels were selected, and biomarkers plasma levels were measured in plasma samples o…

Two Italian kindreds carrying the Arg136--Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele.

Abstract Background and Aims: Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cy Background and Aims: 12, Cy Background and Aims: 58). Apo E2-Christchurch (Arg136→Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia. Methods and Results: This is the first report of two Italian kindreds carrying the Arg136→Ser mutation. One family is a four-generation kindred from Genoa (Liguria, Italy) with a high rate of mortality due to coronary artery disease: the proband was a 51-year-old woman with previo…

PEAK PARTICLE SIZE AND THE EXTENSION OF CORONARY ATHEROSCLEROSIS IN 71 PATIENTS THAT UNDERWENT AN ANGIOGRAPHIC EXAM

Changes in plasma lipids and low-density lipoprotein peak particle size during and after acute myocardial infarction

In summary, LDL peak particle size variations occur very early after AMI, and therefore this parameter, which may be considered a genetically determined risk factor, must be measured not before 2 to 3 months after the acute event.

Thyroid function and release of thyroid-stimulating hormone and prolactin from the pituitary in human obesity

Thyroid function, basal serum thyroid-stimulating hormone (TSH) and prolactin concentrations, and the effects of 200 micrograms TSH-releasing hormone (TRH) given intravenously on TSH (delta TSH) and prolactin (delta prolactin) were investigated in 25 euthyroid obese subjects and 20 lean controls. No significant differences in serum thyroid hormone concentrations, glucose metabolism parameters, or basal TSH and prolactin concentrations were detected between groups, but a significant (P less than 0.01) increase in delta TSH and a significant (P less than 0.01) decrease in delta prolactin were observed in obese subjects. No significant differences in basal TSH and prolactin were observed in ob…

Effects of gemfibrozil on insulin sensitivity and on haemostatic variables in hypertriglyceridemic patients.

In order to assess the efficacy of gemfibrozil on lipid and haemostatic parameters in patients with plurimetabolic syndrome, a multicenter double-blind placebo controlled, parallel study was carried out in 56 patients with primary hypertriglyceridemia and glucose intolerance. These patients had elevated PAI activity and antigen and t-PA antigen levels at rest and after venous occlusion. Gemfibrozil reduced plasma triglyceride levels (P0.001), whereas it increased free fatty acids (P0.05) and high density lipoprotein cholesterol levels (P0.05). In those patients reaching normalization of plasma triglyceride levels (triglyceride reductionor =50%) (n=15), insulin levels (P0.05) as well as the …

A novel mutation in the Lipase Maturaction Factor 1 (LMF-1)gene responsible for severe hypertriglyceridemia

Riskard 2005. New tools for prediction of cardiovascular disease risk derived from Italian population studies.

Abstract Background and aim The need to update tools for the estimate of cardiovascular risk prompted the “Gruppo di Ricerca per la Stima del Rischio Cardiovascolare in Italia” to produce a new chart and new software called Riskard 2005. Methods and results Data from 9 population studies in 8 Italian regions, for a grand total of 17,153 subjects (12,045 men and 5,108 women) aged 35–74 and for a total exposure of about 194,000 person/years were available. A chart for the estimate of cardiovascular risk (major coronary, cerebrovascular and peripheral artery disease events) in 10 years was produced for men and women aged 45–74 free from cardiovascular diseases. Risk factors employed in the est…

Hypertension and diabetes mellitus are associated with cardiovascular events in the elderly without cardiovascular disease. Results of a 15-year follow-up in a Mediterranean population

Abstract Background and aims Epidemiological prospective data on cardiovascular (CV) events in elderly subjects from Mediterranean populations are lacking. We aimed to investigate 15-year incidence of CV events and to evaluate the association with CV risk factors in an elderly Mediterranean population. Methods and results The population of a small Sicilian village were enrolled, visited and a blood sample was drawn at baseline. CV events were recorded in the 15 years of follow-up. From 1351 subjects (75% of the resident population); 315 were in the age range 65–85 years; 266 subjects free from CV disease were analysed. Seventy-seven CV events were recorded in 73 out of 266 subjects, with a …

Lipoprotein profile and high-density lipoproteins: subfractions distribution in centenarians.

In order to assess the role of HDL on longevity, we studied HDL subfraction distribution in centenarian women compared with a group of weight- and gender-matched healthy normolipidemic controls. We did not find any significant difference in the mean plasma lipid, apolipoprotein, and Lp(a) levels. On the contrary, in spite of similar HDL-cholesterol concentrations (1.32 ± 0.41 mmol/l in centenarians vs. 1.32 ± 0.25 mmol/l in controls, p = not significant), HDL&lt;sub&gt;2b&lt;/sub&gt; and HDL&lt;sub&gt;3a&lt;/sub&gt; levels were, respectively, significantly increased and significantly reduced in centenarians in comparison with controls (HDL&lt;sub&gt;2b&lt;/sub&gt; 32.4 ± 9.2% in centenarian…

Alterations in circadian rhythm of serum thyrotropin in critically ill patients.

To evaluate the 24-h pattern of serum thyrotropin (TSH) in critically ill patients, we measured serum concentrations of TSH in blood samples collected every 2 h for 24 h from nine patients (six with malignancy, two with liver cirrhosis, one with chronic renal failure), who had subnormal levels of both triiodothyronine (T3) and thyroxine (T4), in the absence of history, symptoms or signs of thyroid disease. Analysis of the data, performed using a second-order inferential statistical methodology for rhythmometry (cosinor method), demonstrated that critically ill patients still had daily oscillations of serum TSH which significantly adapted to the function approximating the circadian rhythms (…

Thrombin-antithrombin III complexes in type II diabetes mellitus.

Several studies suggest that diabetes is associated with a hypercoagulable state. Therefore determination of thrombin-antithrombin complex (TAT) could represent a sensitive parameter for specific detection of a latent activation of the clotting system. The present study documents increased plasma TAT in a heterogeneous group of non-insulin-dependent diabetic patients. The finding of increased TAT levels both in diabetic patients with vascular complications and in vascular disease patients without diabetes suggests a relationship between existing vascular disease and the hemostatic mechanism that produces augmented thrombin activity. In acute vascular occlusions the presence of diabetes seem…

Effects of gemfibrozil in hyperlipidemic patients with or without diabetes

Abstract Four hundred sixty-one hyperlipidemic men and women, aged 23 to 73 years, with (n = 200) or without (n = 261) non-insulin-dependent diabetes mellitus were included in a study designed to evaluate the efficacy and tolerability of 1,200 mg of gemfibrozil given once daily for 24 weeks. All lipid values improved significantly in both diabetic and nondiabetic patients during treatment. The number of patients with the atherogenic predictor ratio of low-density:high-density lipoprotein cholesterol (HDL-C:LDL-C) >5 decreased by 95% in both patient groups. The number of patients in the highest-risk subgroup with the combination risk factors of LDL-C:HDL-C >5 and triglyceride levels >200 mg/…

VARIABLE PHENOTYPIC ESPRESSION IN A LIPID ABSORPTION DISORDER DUE TO A MOLECULAR DEFECT IN THE SARA2 GENE

FAMILIAL HYPOBETALIPOPROTEINEMIA DUE TO APOLIPOPROTEIN B GENE MUTATIONS CAUSES INTESTINAL FAT ACCUMULATION AND LIPID MALABSORPTION.

Cystatin C levels are decreased in acute myocardial infarction

Background: Cystatin C is the most abundant protease inhibitor in the plasma. Low plasma levels have been found in patients with aortic aneurysms and they seem correlated with the extension of the aortic lesions in early aneurysms detected by ultrasonography. Methods: In this study, plasma levels of cystatin C have been investigated in patients with acute myocardial infarction (AMI), unstable angina and controls. The effect on plasma levels of the G73A polymorphism of the CST3 gene has been also evaluated. Results: Patients with acute myocardial infarction showed significantly lower levels of cystatin C compared to unstable angina and controls, but levels were nearly normal in a week after …

Immunologic and absorptive tests in celiac disease: can they replace intestinal biopsies?

The sensitivity and specificity of several immunologic and absorption tests were determined in infants with celiac disease (31 male, 39 female; median age, 2.6 years) in different phases of the disease and in a group of control subjects with chronic diarrhea of different etiologies (32 male, 28 female; median age, 1.2 years). Intestinal biopsy was performed both in the patients and in the controls as a 'gold standard' for the diagnosis. The anti-gliadin antibody (AGA) IgG values showed a sensitivity of 89% and a specificity of 47%; AGA IgA were 69% sensitive and 92% specific; anti-endomysial antibodies (EmA) were 100% sensitive and 97% specific; the xylose test was 71% sensitive and 53% spe…

CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE

INTERACTION OF THE INTRACELLULAR DOMAIN OF THE LOW DENSITY LIPOPROTEIN (LDL) RECPTOR WITH METALLOTHIONEIN2 (MT2).

Family hystory, diabetes and extension of coronary atherosclerosis are strong predictors of adverse events after PTCA: a one year follow-up study

BACKGROUND AND AIM: In this study we addressed some open questions in patients with coronary artery disease (CAD). First, we analysed which of the traditional risk factors was associated with the spreading of coronary stenosis and second, we aimed to identify if any variable was predictive of post-percutaneous transluminal coronary angioplasty (PTCA) clinical events. METHODS AND RESULTS: We collected a consecutive series of patients with CAD (n=301) and in the subgroup of patients undergoing PTCA (n=135) we performed a prospective one-year follow-up study recording cardiovascular morbidity and total mortality. According to the extension of coronary atherosclerosis, we found a significant re…

Secretin—cerulein test and fecal chymotrypsin concentration in children with intestinal giardiasis

We studied six patients with giardiasis (five males, one female), median age 3.5 yr (range 1-11) and 12 healthy control subjects (10 males, 2 females), median age 3.5 yr (range 1-10). Intestinal biopsy and a contemporaneous secretin-cerulein test were performed in all patients, and fecal chymotrypsin was also assayed. Intestinal biopsy was normal in five of the six patients with giardiasis, whereas one of the six presented a partial atrophy of the intestinal villi. The secretin-cerulein test (1 CU/kg of secretin + 75 ng/kg of cerulein) did not show any significant difference between values in the outputs of chymotrypsin, lipase, phospholipase, and bicarbonate obtained in patients and in con…

Platelet Function During Ticlopidine and Eicosapentaenoic Acid Administration in Patients with Coronary Heart Disease

Antiplatelet drugs have been reported to be useful in unstable angina. This study was designed to investigate the effects of simultaneous administration of ticlopidine and eicosapentaenoic acid (EPA) on platelet function in coronary heart disease (CHD) patients. Ticlopidine significantly reduced platelet aggregation induced by ADP and collagen with no effect on arachidonate metabolism. The aggregation responses to collagen, ADP and arachidonate were not altered significantly by EPA (as fish oil) intake whereas thromboxane A(2) formation was reduced, but not completely inhibited. Combined therapy seems to achieve a more marked degree of inhibition of aggregation together with a fall in the u…

Pituitary resistance to thyroid hormone action with preserved circadian rhythm of thyrotropin in a postmenopausal woman.

We assessed the 24-h behavior of circulating TSH and the dopaminergic control on TSH release in a postmenopausal woman, who had elevated levels of serum thyroid hormones and an inappropriately high concentration of serum TSH, indicating pituitary resistance to thyroid hormone action. The patient was found to have a daily profile of serum TSH similar to that of normal subjects, except for the persistently elevated 24 h levels, suggesting that alterations in thyroid hormone negative feedback control did not affect substantially circadian TSH rhythm. The acute administration of a dopamine antagonist drug (metoclopramide) resulted in a markedly elevated peak of serum TSH, similar both in the mo…

Deficient pulsatile thyrotropin secretion in the low-thyroid-hormone state of severe non-thyroidal illness

Custro N, Scafidi V, Gallo S, Notarbartolo A. Deficient pulsatile thyrotropin secretion in the low-thyroid-hormone state of severe non-thyroidal illness. Eur J Endocrinol 1994;130:132–6. ISSN 0804–4643. Twenty-four-hour thyrotropin (TSH) profiles in eight severely ill patients were compared with those of six healthy subjects. The profiles were assessed using the cosinor method to evaluate circadian variations and using the Pulsar algorithm to analyze episodic secretion. In the normal subjects, the typical periodicity of TSH secretion showed a mean level in the rhythm (mesor) of 2.03 mU/l, The amplitude (half the extent of rhythmic change in the cycle) was 0.58 mU/l; the acrophase (the delay…

Gastroesophageal reflux and cow's milk allergy in infants: A prospective study

Recent reports have suggested that gastroesophageal reflux in pediatric patients may be caused by food allergy.The aim of our study was to determine the frequency of the association of gastroesophageal reflux with cow's milk protein allergy in patients win the first year of life.We studied 204 consecutive patients (median age, 6.3 months) who had been diagnosed as having gastroesophageal reflux on the basis of 24-hour continuous pH monitoring and histologic examination of the esophageal mucosa.Clinical history suggested diagnosis of cow's milk allergy in 19 infants, and 93 others had positive test results (serum IgE anti-lactoglobulin, prick tests, circulating or fecal or nasal mucus eosino…

SEVERE MALABSORPTION AND DECREASED TRIGLYCERIDE RICH LIPOPROTEINS PRODUCTION IN A PROBAND CARRYING A MUTATION ENCODING FOR A TRUNCATED APOLIPOPROTEIN B100 VARIANT (APO B 34.8).

Effects of a phytosterol-enriched dairy product on lipids, sterols and 8-isoprostane in hypercholesterolemic patients: a multicenter Italian study.

Abstract Background and aims Plant sterols, added to several food sources, lower serum cholesterol concentrations. Plant sterol-induced cholesterol lowering is paralleled by a mild decrease in plasma levels of the antioxidant β-carotene, the amount of this decrease being considered clinically non-significant. Whether the effect on lipid profile of daily consumption of plant sterol-enriched low-fat fermented milk (FM) is paralleled by a concomitant variation in a reliable marker of the oxidative burden like plasma isoprostane levels is unresolved. Methods and results The effect of plant sterol consumption on plasma lipid and isoprostane levels of hypercholesterolemic patients was evaluated i…

Hypercholesterolemia and haemostatic function changes

Patients with hypercholesterolemia have elevated levels of LDL and reduced plasma concentration of HDL.

HDL Subtractions Distribution in Renal Transplant Recipients: Lack of Evidence of a Reduction of HDL&lt;sub&gt;2&lt;/sub&gt; Particles

Since the high rate of cardiovascular disease in renal transplant recipients, alterations of lipoprotein profile in such patients were extensively evaluated, but the HDL subclass profile was not completely clarified. Renal transplant recipients usually show normal to high plasma levels of HDL cholesterol, even if some investigations suggested a persistence of low HDL2 levels: this was not useful in terms of cardiovascular protection. We designed this study in order to evaluate HDL subfractions distribution in renal transplant recipients. We studied 55 renal transplant recipients, treated with prednisone, azathioprine and/or cyclosporine, and 34 healthy normolipidemics as controls. In all su…

Carotid atherosclerosis in renal transplant recipients: Relationships with cardiovascular risk factors and plasma lipoproteins

BACKGROUND: Renal transplant recipients have an increased incidence of cardiovascular disease, but less data exist about cerebrovascular atherosclerosis. In this study, we assessed the prevalence of carotid lesions as evaluated by B-mode ultrasonography in a group of renal transplant recipients, and we evaluated univariate and multivariate relationships between common risk factors and plasma lipoproteins and carotid lesions. METHODS: Fifty-seven renal transplant recipients and 113 age- and gender-matched controls underwent a complete clinical visit for the evaluation of risk factors present. In all subjects, a blood sample was collected for lipoprotein determination, and an ultrasound high-…

TERAPIA CON STATINE IN PAZIENTI SICILIANI AFFETTI DA IPERLIPIDEMIA FAMILIARE COMBINATA

Familial combined hyperlipidemia (FCHL) is the most frequent genetic hyperlipidemia. FHCL is associated with high prevalence of cardiovascular disease. In this study we selected 208 patients affected by FHCL and evaluated the efficacy of the lipid-lowering statin therapy using different statins available in the market. The results show that the percent of patients reaching the therapeutic goal ranges from 19.7 % (LDL-C <100 mg/dL) to 50.9% (LDL-C <130 mg/dL) and from 16.9 % (non HDL-C <130 mg/dL) to 46.6 % (non HDL-C <160 mg/dL) according to the different ATPIII-NCEP-guidelines cut offs. In conclusion the statin monotherapy is only partly effective in the management of FCHL therapy

I LIVELLI DI CISTATINA C SONO RIDOTTI NELL’INFARTO MIOCARDIO ACUTO. EFFETTO DEL POLIMORFISMO G73A SUI LIVELLI PLASMATICI.

Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo

The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb™-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sou…

HYPOBETALIPOPROTEINEMIA AND FATTY LIVER: WHO IS THE CULPRIT

MALABSORPTION OF FAT IN CELIAC DISEASE DURING AN ORAL FAT LOAD. KINETIC STUDY OF CHYLOMICRONS AND REMNANTS AND CORRELATION WITH THE STAGE OF THE DISEASE

Role of pancreatic impairment in growth recovery during gluten-free diet in childhood celiac disease

Abstract BACKGROUND & AIMS: Clinical significance and duration of insufficient release of pancreatic enzymes in childhood celiac disease have not been clarified. The aim of this study was to evaluate the role that pancreatic impairment plays in growth recovery and the duration of this impairment. METHODS: Forty-six patients with celiac disease who had a median age of 2.5 years were enrolled. Fecal chymotrypsin level was determined at diagnosis and then every 15 days after the beginning of a gluten-free diet in all patients. RESULTS: At diagnosis, 17 of 46 patients with celiac disease had subnormal fecal chymotrypsin values. During the gluten-free diet, a progressive reduction in the percent…

Diagnostic Accuracy of Fecal Calprotectin Assay in Distinguishing Organic Causes of Chronic Diarrhea from Irritable Bowel Syndrome: A Prospective Study in Adults and Children

AbstractBackground: Fecal calprotectin (FC) has been proposed as a marker of inflammatory bowel disease (IBD), but few studies have evaluated its usefulness in patients with chronic diarrhea of various causes. We evaluated the diagnostic accuracy of a FC assay in identifying “organic” causes of chronic diarrhea in consecutive adults and children.Methods: We consecutively enrolled 70 adult patients (30 males, 40 females; median age, 35 years) and 50 children (20 males, 30 females; median age, 3.5 years) with chronic diarrhea of unknown origin. All patients underwent a complete work-up to identify the causes of chronic diarrhea. FC was measured by ELISA.Results: In adult patients, FC showed 6…

L’ipersensibilità alimentare nell’adulto

Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…

Nutritional characteristics of a rural Southern Italy population: the Ventimiglia di Sicilia Project.

Knowledge of alimentary habits among populations permits a better definition of appropriate public health interventions. We designed the epidemiological project "Ventimiglia di Sicilia" to characterize the risk profile in a rural village with low total cholesterol levels and low early cardiovascular mortality but with a large prevalence of overweight and obesity, which previously have been significantly associated with total mortality.488 individuals of age 20 to 69 years were included in the dietary survey conducted by a seven-day food record.Alimentary habits were characterized by high consumption of total and complex carbohydrates (respectively 52.5 +/- 7.6% and 46.6 +/- 8.2% of daily en…

Pancreatic enzyme therapy in childhood celiac disease. A double-blind prospective randomized study.

The validity of pancreatic enzyme substitution therapy in the two months following diagnosis of celiac disease was investigated. Twenty patients (8 males, 12 females), mean age 14.2 months (group A) received an enzyme substitution preparation. The control group (group B) included 20 patients (9 males, 11 females), mean age 14.5 months, treated with placebo. Before starting treatment, we performed a stratification for age, weight-for-age at diagnosis, and degree of pancreatic insufficiency. The therapies were then administered randomly in double-blind fashion. On diagnosis and 30 and 60 days after commencement of a gluten-free diet with identical calorie intake in both groups, a series of an…

IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING A MUTATION IN THE LDL-R GENE AND IN THE PCSK9 GENE

UNA NUOVA MUTAZIONE DELL’INTRONE 16 (G>A a 2390 -1) DEL RECETTORE DELLE LDL RESPONSABILE DI IPERCOLESTEROLEMIA FAMILIARE. EFFETTI SULLA ESPRESSIONE DELL’mRNA DEL RECETTORE DELLE LDL

FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B: IDENTIFICATION OF A FAMILY HARBOURING THE ARG3531CYS (FDB3531) OF THE APOB GENE

Accumulation of apoE-enriched triglyceride-rich lipoproteins in patients with coronary artery disease.

Triglycerides (TGs) are vehicled by multiple particles with different abilities to promote atherosclerosis. Among plasma TG-rich lipoproteins (TRLs), subspecies may or may not contain apolipoprotein E (apoE) molecules: in this study, we evaluated the relative contribution of apoE-rich and apoE-poor TRLs to coronary atherosclerosis. We selected a group of males with premature coronary artery disease (CAD) without any of the classical nonlipid risk factors and/or high plasma lipid levels and evaluated the plasma concentration of TRL subspecies in comparison with healthy controls. Patients with CAD and controls had total cholesterol and TG levels within the normal range (despite slightly, even…

CEREBROTENDINOUS XANTHOMATOSIS: A SICILIAN FAMILY HARBOURING THE R362C MUTATION IN THE STEROL 27-HYDROXYLASE GENE

[Pathogenesis of atherosclerosis by "cholesterol" or "inflammation": a true or fictitious dilemma] Ann Ital Med Int. 2005 Apr-Jun;20(2):63-8. Review. Italian

Effectiveness of cascade filtration plasmapheresis in two patients affected by familial hypercholesterolemia

Hypercholesterolemia has been recognised as a primary risk factor for coronary heart disease. Reduction of plasma levels of total and LDL cholesterol has been shown to decrease coronary atherosclerosis. Plasmapheresis represents an useful non-pharmacological tool to treat severe hypercholesterolemias. We have evaluated the effectiveness of a system of plasmapheresis using a cascade filtration method in two young male subjects (aged 16 and 26 years) with homozygous familial hypercholesterolemia. Both showed severe coronary atherosclerosis as determined by angiography. Procedures were performed at intervals of 7 days in each case. We observed a mean reduction of plasma levels of total cholest…

Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.

Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one f…

Comparison of anti-transglutaminase ELISAs and an anti-endomysial antibody assay in the diagnosis of celiac disease: A prospective study

Abstract Background: Most studies of anti-transglutaminase (anti-tTG) assays have considered preselected groups of patients. This study compared the sensitivity, specificity, and predictive value of an immunofluorescence method for anti-endomysial antibodies (EmAs) and two anti-tTG ELISAs, one using guinea pig tTG (gp-tTG) and the other human tTG (h-tTG) as antigen, in consecutive patients investigated for suspected celiac disease (CD). Methods: We studied 207 consecutive patients (99 men, 108 women; age range, 17–84 years) who underwent intestinal biopsy for suspected CD. Patients presented with one or more of the following: weight loss, anemia, chronic diarrhea, abdominal pain, dyspepsia,…

ΒETA ARRESTIN-2: A NEW “ACTOR” IN THE LDL-R ENDOCYTOSIS?

PREVALENCE OF METABOLIC SYNDROME IN A RURAL SICILIAN POPULATION AND RELATIONS WITH CLINICAL EVENTS: THE VENTIMIGLIA HEART PROJECT.

Prevalence of high molecular weight apoprotein(a) isoforms in subjects with very low plasma levels of Lipoprotein(a)

Valore predittivo dei test sierologici nella diagnosi di malattia celiaca

In the diagnostic work-up of celiac disease (CD) the simpler enzyme-linked immunosorbent assay (ELISA) for the identification of serum anti-transglutaminase (tTG) autoantibodies could substitute the immunofluorescence technique used for the detection of anti-endomysial antibodies (EmA). However, most of the studies on anti-tTG assay have considered pre-selected groups of patients and not consecutive subjects with suspected CD. The aim of this study was to compare the sensitivity, specificity and predictive value of anti-gliadin antibodies (AGA), EmA and two anti-tTG ELISAs, one based on guinea pig (gp)-tTG and the other on human (h)-tTG as antigens, in consecutive patients investigated for …

DIFFERENCE IN THE PREVALENCE OF METABOLIC SYNDROME AND CARDIOVASCULAR RISK FACTORS AFTER 14 YEARS IN THE POPULATION OF VENTIMIGLIA DI SICILIA

THE METABOLIC SYNDROME IS A PREDICTOR OF CARDIOVASCULAR EVENTS IN A SICILIAN POPULATION. RESULT OF A 15 YEARS FOLLOW UP

Domperidone plus Magnesium Hydroxide and Aluminum Hydroxide: A Valid Therapy in Children with Gastroesophageal Reflux: A Double-Blind Randomized Study versus Placebo

To evaluate the efficacy of different drug combinations in treating severe gastroesophageal reflux (GER), we studied 80 children with GER. The patients were randomly divided into four groups: group A was treated with domperidone plus magnesium hydroxide and aluminum hydroxide, group B with domperidone plus alginate, group C with domperidone alone, and group D received placebo. At the time of diagnosis and 8 weeks after treatment the patients were clinically evaluated and underwent 24-h continuous esophageal pH monitoring. After treatment a complete regression of symptoms was observed in 16 of 20 patients in group A, in 8 of 20 in group B (A versus B, p < 0.018), in 9 of 20 in group C (A ver…

PREVALENCE OF PCSK9 VARIANTS IN A COHORT OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

Low-density lipoproteins generated during an oral fat load in mild hypertriglyceridemic and healthy subjects are smaller, denser, and have an increased low-density lipoprotein receptor binding affinity.

Triglyceride-rich lipoproteins generated during the postprandial phase are atherogenic. Large very low-density lipoproteins (LDLs) or chylomicrons (CMs) are not as atherogenic as their remnants (Rem). Small and dense LDLs are associated with cardiovascular disease. Low-density lipoprotein size is partly under genetic control and is considered as a relatively stable LDL feature. In this article, we present data on retinyl palmitate kinetics correlated with the modification of LDL features in terms of size, density, and in vitro receptor binding affinity after an oral fat load. Six nondiabetic, hypertriglyceridemic (HTG) patients and 6 healthy controls were examined. Low-density lipoprotein s…

Apolipoprotein profile in type II diabetic patients with and without coronary heart disease.

Diabetes mellitus is frequently associated with lipid metabolism abnormalities. In the present study the lipid and apolipoprotein profiles have been compared in type II diabetic subjects with (n = 30) and without (n = 30) coronary heart disease (CHD). All subjects were studied after good metabolic control had been achieved. Significant differences in plasma lipids and apolipoproteins were seen in diabetic patients with CHD in comparison with diabetics without CHD. Patients with CHD presented higher total cholesterol, triglyceride, LDL-cholesterol, apo B, apo CII and apo CIII levels and total cholesterol/HDL-cholesterol and LDL-cholesterol HDL-cholesterol ratios and lower HDL-cholesterol val…

Pancreatic enzymes in chronic renal failure and transplant patients.

The aim of the present study was to determine the frequency and degree of elevated serum levels of Total Amylase (TA), Pancreatic Amylase (PA), and Lipase (L) activity in patients with chronic renal failure (CRF) on conservative therapy; CRF on periodical hemodialysis (HD); in renal transplant (RT) and in a control Group (C). Mean values were significantly higher in all groups than Group C for TA (p < 0.005), PA (p < 0.0001) and L (p < 0.0001). A statistically significant correlation was found between TA and L vs creatininemia values in CRF patients, but only up to a certain level (creatininemia < 6 mg %) (p < 0.03 and p < 0.05), above which there was no correlation. The enzyme most frequen…

IPERCOLESTEROLEMIA AUTOSOMICA DOMINANTE IN SICILIA

ASSOCIATION OF THE PARAOXONASE-1 Q192R POLYMORPHISM WITH CORONARY ARTERY DISEASE IN AMI PATIENTS, NON AMI CAD AND HEALTHY CONTROLS.

Prevalence of biliary lithiasis in the elderly people of a small town in Sicily

The aim of the present study was to determine the prevalence of biliary lithiasis (BL) and its major associated factors in the elderly people of a small town in Sicily. All inhabitants over the age of 65 were interviewed and underwent a general physical examination, blood tests and ultrasonography of the gallbladder and biliary tracts. The final group included 328 subjects (162 men and 166 women), representing 63.1% of the population asked to participate, with a mean age of 74.3 +/- 6.8 years (range 65-95). The prevalence of BL (lithiasis in progress + subjects cholecystectomized for previous calculosis) was 18.6%. No male subject had been cholecystectomized. Prevalence was higher in women …

THE METABOLIC SYNDROME PREDICTS CARDIOVASCULAR EVENTS IN SUBJECTS WITH NORMAL GLUCOSE TOLERANCE. A 15 YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION

A novel nonsense mutation in the cept gene in italian Hyperalphalipoproteinemic subjects

Platelets, eicosanoids and aging.

Subclinical hypothyroidism resulting from autoimmune thyroiditis in female patients with endogenous depression.

Thyroid function and presence of thyroid autoantibodies were assessed in a group of 75 consecutive female patients with mood disturbances and in a group of 38 healthy women of similar age recruited as controls. Nine patients suffered from major (endogenous) depression and 66 from minor (neurotic) depression. The individual patients had normal values of circulating thyroid hormones. Nevertheless, endogenously depressed patients had total serum triiodothyronine (M±SE=1.49±0.09 nmol/l) and both total (83.9±4.3 nmol/l) and free serum thyroxine (13.9±1.1 pmol/l) lower than in the group of minor depressed and in the group of controls (p<0.01, in both comparison). The median value of serum thyrotr…

Prospective study on thyroid autoimmunity and dysfunction related to chronic hepatitis C and interferon therapy.

This study was designed to assess patients with chronic hepatitis C (CHC) for the presence of thyroid autoimmunity and dysfunction, to evaluate the risk of thyroid disorders associated with interferon (IFN) therapy, and to survey the outcome of possible treatment-related thyroid injury. Out of 104 consecutive untreated patients (30 women and 74 men; mean age, 52.7 years), 8 (7.7%) were found seropositive for thyroid autoantibodies (ThyAb), whereas seropositivity in healthy controls was 1/98 (1.3%). The relative increase in risk of developing thyroid autoimmunity associated with CHC was 760% (95% Cl, 220–1300%). No patients had abnormalities of thyroid function tests, but on IFN treatment, 3…

NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS.

Prediction of incident type 2 diabetes mellitus based on a twenty-year follow-up of the Ventimiglia heart study.

A novel algorithm to predict incident type 2 diabetes mellitus (iT2DM) is presented considering data from a 20-year prospective study in a Southern Italy population. Eight hundred and fifty-eight out of 1,351 subjects (24-85 years range of age) were selected. Incident type 2 diabetes was diagnosed in 103 patients in a 20-year follow-up. The Finnish Diabetes Risk Score (FINDRISC) and the Framingham Offspring Study simple clinical model (FOS) have been used as reference algorithms. Two custom algorithms have been created using Cox parametric hazard models followed by PROBIT analyses: the first one (VHSRISK) includes all the study subjects and the second one (VHS95RISK) evaluates separately su…

Ultrasound detection of abdominal lymphadenomegaly in subjects with hepatitis C virus infection and persistently normal transaminases: a predictive index of liver histology severity.

The indications for liver biopsy in anti-HCV-positive patients with persistently normal alanine aminotransferase levels are not clearly established. Recent studies have correlated the presence of abdominal lymphoadenomegaly with disease severity in patients with chronic hepatitis C. Our study aimed to evaluate the frequency of abdominal lymphoadenomegaly in an anti-HCV positive blood donor population with persistently normal alanine aminotransferase and the relationship of abdominal lymphoadenomegaly with the severity of liver changes.Eighty-six anti-HCV positive blood donors (58 M, 28 F) with normal alanine aminotransferase were followed up for a median of 31 months (range 12-50). To evalu…

Steatocrit test after a standard fatty meal: A new simple and sensitive test to detect malabsorption

The steatocrit test, a simple semiquantitative method for determining fat content in stool, was performed after a standard fatty meal to detect malabsorption in patients with celiac disease. Thirty-seven children (mean age 2.6 +/- 2.1 years) with total atrophy of the intestinal villi and 79 controls (mean age 3.5 +/- 2.8 years) were studied. All subjects underwent a small-bowel biopsy, a D-xylose absorption test, a rapid triglyceride absorption test, and a steatocrit determination first on an uncontrolled diet and then again after a standard fatty meal. The steatocrit test after a fatty meal did not detect any false-positive or false-negative results, while the D-xylose test showed two fals…

Beta-2-glycoprotein I is growth regulated and plays a role as survival factor for hepatocytes

Beta-2-glycoprotein I (beta(2)GPI) is mainly produced by the liver and is found in plasma partially associated to lipoproteins. Although various properties have been attributed to this protein, its physiological role remains still unclear. We investigated its expression in cultured liver cells and in regenerating liver. Expression studies in HepG2 cells demonstrate that beta(2)GPI mRNA is regulated in a cell cycle-dependent manner, with very low expression in low cycling conditions and increasing levels in proliferating cells. p21 WAF-dependent growth arrest, induced by butyrate treatment, down-regulate beta(2)GPI mRNA levels. Immunolocalization in normal rat liver shows a non-homogeneous p…

THE METABOLIC SYNDROME PREDICTS CARDIOVASCULAR EVENTS IN SUBJECTS WITH NORMAL FASTING GLUCOSE. A FIFTEEN YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION

MISSENSE MUTATION ALA34VAL IN EXON 2 OF THE LIPOPROTEIN LIPASE GENE IN A YOUNG MAN WITH CHYLOMICRONEMIA.

GLI ACIDI GRASSI SATURI ED INSATURI MODULANO L’UPTAKE DELLE LIPOPROTEINE HDL IN UN MODELLO DI CELLULE EPATICHE IN COLTURA.

Tauroursodeoxycholic acid for the treatment of chronic hepatitis: a multicentre dose-response study

Ursodeoxycholic acid (UDCA) improves the biochemical expression of chronic liver disease. Tauroursodeoxycholic acid (TUDCA) was recently shown to have more favourable metabolic properties. We designed a multicenter, randomized, controlled study, aimed at assessing the efficacy of TUDCA for the treatment of chronic hepatitis. One hundred and fifty-five patients with chronic hepatitis were randomly assigned to receive TUDCA at the daily doses of 250, 500 and 1000 mg, or no treatment for 6 months. Aminotransferase and gamma-glutamyl transpeptidase (GGT) serum levels decreased with each dose of TUDCA compared with controls (P<0.001). The 1000 mg dose was followed by more marked improvement comp…

MUTAZIONI DEL GENE DELL’APOB RESPONSABILI DI IPOBETALIPOPROTEINEMIA FAMILIARE IN SICILIA

Steatocrit test: Normal range and physiological variations in preterm and low-birth-weight full-term newborns

Gastric Emptying in Infants with Gastroesophageal Reflux: Ultrasound Evaluation before and after Cisapride Administration

The present study aimed to evaluate gastric emptying in children with gastroesophageal reflux (GER) by means of real-time ultrasonography, on the basis of measurements of the cross-sectional area of the gastric antrum. Twelve children with GER were studied (seven males, five females; age range, 3-13 months) and compared with 12 normal control children (six males, six females; age range, 3-13 months). The diagnosis of GER was confirmed by 24-h esophageal pH-monitoring. The GER patients had a significantly greater antral area than the controls at 90, 105, and 120 min after eating a standard meal (cow's milk formula, 300 ml/m2 body surface area); in addition, final gastric emptying time was si…

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…

Effects of Antihypertensive Treatment on Peripheral Flow of the Lower Limbs

The clinical pattern determined in subjects that undergo a high and prolonged pressure regime is defined as “hypertensive disease”.

Riskard 2005. New tools for prediction of cardiovascular disease risk derived from Italian population studies. Nutr Metab Cardiovasc Dis. 2005 Dec;15(6):426-40. Epub 2005 Nov 16

Le LDL generate in fase post-prandiale dopo carico grasso presentano maggiore densita’, minore size e maggiore affinita’ per il recettore

HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY.

Correlation between different degree and duration of metabolic control and thyroid hormone levels in type 1 and type 2 diabetics.

Thyroxine (T4), triiodothyronine (T3), reverse T3 (rT3) and HbA1c were assayed in 21 insulin-dependent (type 1) diabetics and in 45 non-insulin-dependent (type 2) diabetics with normal thyroid function and different levels of control, and were compared to values found in apparently healthy controls. rT3 and rT3/T3 ratio were significantly increased both in type 1 and type 2 diabetics. T3 and T4 were significantly lower in type 2 diabetics than in the controls. Significant positive correlations of HbA1c to rT3 (r = 0.63) and to rT3/T3 ratio (r = 0.53) were found in type 1, and in type 2 diabetics (HbA1c, rT3-r = 0.50), (HbA1c, rT3/T3-r = 0.37). There was no correlation between glycemia (BG),…

Fibrinogen and von Willebrand factor in type II diabetes mellitus

A hypercoagulable state may contribute to the formation of early vascular lesions in diabetes. The von Willebrand factor is required for the attachment of platelets to the subendothelium; fibrinogen is required for platelet aggregation. This study was designed to assess in type II diabetic patients plasma levels of fibrinogen and von Willebrand factor to see if these variables are associated with platelet aggregation responses to adenosine diphosphate (ADP). Fibrinogen and the von Willebrand factor were significantly increased in diabetics but only fibrinogen was significantly related to platelet aggregation for ADP. Strict metabolic control does not reduce the increased concentrations of t…

HYPERTENSION AND DIABETES MELLITUS PREDICT CARDIOVASCULAR EVENTS IN ELDERLY WITHOUT CARDIOVASCULARDISEASE. RESULTS OF FIFTEEN YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION.

Lack of association between angiotensin converting enzyme polymorphism and sporadic Alzheimer's disease

Epidemiological and pathogenetic evidences suggest a strong association between vascular risk factors and sporadic Alzheimer's disease (sAD). In agreement with the vascular hypothesis of AD, the role of various candidate genes for atherosclerosis has been investigated, leading to conflicting results. In order to clarify the significance of angiotensin-converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism in a group of patients with sAD, we conducted a case-control study including 149 cases and 149 age and sex matched controls. All subjects were genotyped for ACE and Apolipoprotein E (APOE). There were no significant differences in ACE genotype or allele frequencies between ca…

α-HYDROXYBUTYRIC DEHYDROGENASE IN THE DIAGNOSIS OF MYOCARDIAL INFARCTION

Malattia celiaca: presentazione di un caso clinico “tipico” e di un caso clinico “atipico”[Celiac disease: Presentations of a "typical" clinical case and an "atypical" clinical case]

Severe infantile colic and food intolerance: A long-term prospective study

To determine the relationship between infantile colic and cow's milk protein intolerance (CMPI) in formula-fed infants, 70 infants (38 male, 32 female) were selected, with mean age 30.2 +/- 21.4 days, with severe colic (duration of crying greater than 4 h per day for 5 days per week). In 50 of the infants in the study group (71.4%) there was a remission of symptoms when cow's milk protein (CMP) was eliminated from the diet. Two successive challenges caused the return of symptoms in all these 50 infants. There was a positive anamnesis for atopy in 9 of 50 of the patients with CMP-related colic and in 1 of 20 of those with non-CMP-related colic (p greater than 0.05). A follow-up period of 18 …

SHORT APOB TRUNCATIONS SHOW IMPAIRE CHYLOMICRON EXPORT AND ENTEROCYTE TRIGLYCERIDE ACCUMULATION. IN VIVO AND IN VITRO EVIDENCE ON A APOB 28.25 STABLE-TRANSFECTED ENTEROCYTE CELL LINE

Differential apolipoprotein(a) isoform expression in heterozygosity is an independent contributor to lipoprotein(a) levels variability

Abstract Background and methods : Lipoprotein(a) [Lp(a)] levels represent an independent risk factor for cardio- and cerebrovascular diseases. Since lipoprotein(a) levels show a wide variability even in subjects with similar apolipoprotein(a) isoforms, we investigated the contribution of apolipoprotein(a) heterozygosity to lipoprotein(a) variance. Lipoprotein(a) levels, apolipoprotein(a) isoforms identification and expression, and the correlation with other lipo-apolipoprotein parameters have been investigated in 628 subjects >18 years of age. Results : In our study, 246 subjects were found heterozygous for apolipoprotein(a) isoforms. Lipoprotein(a) levels were higher in females. About 40% …

Platelet sensitivity to prostacyclin and thromboxane production in hyperlipidemic patients

SummaryIn 13 type II hyperlipidemics (10 males and 3 females; mean age 50.2 ± 10.6 years), in 10 type IV hyperlipidemics (7 males and 3 females; mean age 51 ± 13.3 years) and in 23 healthy age-and sex-matched controls, the following parameters were measured: plasma cholesterol; plasma TG; plasma C-HDL; VLDL, separated in a preparative ultracentrifuge; C-LDL; Apo B, with immunoelectrophoretic method; platelet sensitivity to prostacyclin; TXB2 formation in PRP; TXB2 in serum.This study provides evidence for: 1. Reduced platelet sensitivity to prostacyclin, more evident in type II hyperlipidemia that provides an additional mechanism involved in increased platelet aggregation found in type II h…

Leukocyte count, diabetes mellitus and age are strong predictors of stroke in a rural population in southern Italy: an 8-year follow-up.

Stroke incidence rates in the Mediterranean area are higher compared to northern European countries. In this study, we present the 8-year prospective data from a small rural Sicilian town. This population, consisting of 1351 subjects (622 males and 729 females), is homogeneous for ethnic background with traditional healthy dietary habits and shows low cholesterol mean levels. We found that the risk of stroke was significantly associated with the record of at least one previous neurological symptom (PNS), such as lack of strength, loss of vision or speech or possible drop attacks, and high hematocrit in males, and to high body mass index (BMI) and waist-hip ratio (WHR), diabetes, hypertensio…

Liver is not the unique site of synthesis of beta 2-glycoprotein I (apolipoprotein H): evidence for an intestinal localization.

Apolipoprotein H is a protein of about 50 kilodaltons, structurally related to the regulators of the complement activation family. Its physiological function is poorly understood but it has been implicated in lipid metabolism and coagulative pathways. The major site of synthesis is thought to be the liver. Several reports indicate that apolipoprotein H is the antigen of the antiphospholipid antibodies and also behaves as an acute-phase reactant. Moreover, 40% of plasma apolipoprotein H is associated with very low-density lipoprotein, high-density lipoprotein, and postprandial chylomicrons. In this study we investigated other sites of synthesis by reverse transcription/polymerase chain react…

Use of famotidine in severe exocrine pancreatic insufficiency with persistent maldigestion on enzymatic replacement therapy. A long-term study in cystic fibrosis.

In patients with pancreatic exocrine insufficiency, the use of pancreatic enzyme does not abolish steatorrhea in some cases. We carried out a long-term prospective study in an attempt to clarify the effectiveness of the associated use of famotidine to enzymatic supplementation on fat absorption and nutritional parameters of patients with pancreatic insufficiency due to cystic fibrosis. We studied 10 patients, mean age 12.5 years, with persistent steatorrhea on enzymatic supplementation. A double-blind crossover design was used and famotidine (1 mg/kg/day) or placebo was given as adjuvant to enzymatic preparations for either of two six-month periods. A statistically significative reduction i…

MUSCLE DAMAGE AND PAIN IN HYPERCHOLESTEROLEMIC OUT-PATIENTS POPULATION ON STATIN TREATMENT.

ASSOCIAZIONE DEL POLIMORFISMO Q192R DEL GENE DELLA PARAOXONASI I (PON1) CON LA MALATTIA CORONARICA IN UN CAMPIONE DI PZ CON INFARTO MIOCARDICO, MALATTIA CORONARICA NON INFARTUALE E SOGGETTI NORMALI.

Secondary impairment of pancreatic function as a cause of severe malabsorption in intestinal giardiasis: A case report

We report the case of a 54-year-old male patient hospitalized for diarrhea and weight loss (8 kg over the previous three months). At admission, we observed pale oral and conjunctival mucosa and peripheral edema of the lower limbs. Stool frequency was 8-10 per day. Laboratory data were as follows: hemoglobin, 11 g/dL; total proteins, 4.3 g/dL; albumin, 2 g/dL; pseudocholinesterase, 1248 U/L; triglycerides, 54 mg/dL; serum cholesterol, 102 mg/dL; calcium, 7.9 mg/dL. Fecal fat was 8.2 g/24 hr. Fecal chymotrypsin (FCT) was 2.3 U/g. A duodenal probe was performed after administration of intravenous secretin and cerulein stimulation, and a contemporaneous mucosal biopsy was taken at the ligament …

INTERLEUKIN 6 PLASMA LEVELS PREDICT WITH HIGH SENSITIVITY AND SPECIFICITY CORONARY STENOSIS DETECTED BY CORONARY ANGIOGRAPHY

Increased thromboxane biosynthesis in type IIa hypercholesterolemia.

BACKGROUND Increased platelet thromboxane (TX)A2 production has been described in type IIa hypercholesterolemia. To verify the relevance of these capacity-related measurements to the actual rate of TXA2 biosynthesis in vivo, we studied the urinary excretion of its major enzymatic metabolites in 46 patients with type IIa hypercholesterolemia and 20 age-matched controls. METHODS AND RESULTS Urinary 11-dehydro-TXB2 and 2,3-dinor-TXB2 were measured by previously validated radioimmunoassays. The excretion rate of 11-dehydro-TXB2 was significantly (p less than 0.001) higher in patients (68.7 +/- 35.1 ng/hr, mean +/- SD) than in controls (22.4 +/- 9.4 ng/hr), with metabolite excretion greater tha…

Lipoprotein(a) levels in relation to albumin concentration in childhood nephrotic syndrome

have been found in patients with end-stage renal disMethods. To investigate a model of nephrotic syndrome in eases, whereas after kidney transplantation, Lp(a) levels the absence of renal failure, we studied a group of 84 children seem to decrease [7‐9]. To explain the increase of Lp(a) in different clinical stages of the disease for a period of five plasma levels in end-stage renal diseases, it has been years. We evaluated the direct relationships between lipoproteins, including Lp(a), and/or plasma albumin and proteinuria. suggested that the kidney might play a role in Lp(a) Results. Lp(a) levels were significantly higher in the subjects metabolism as a catabolic site or by producing some…

Inhibition of thromboxane biosynthesis and platelet function by simvastatin in type IIa hypercholesterolemia

Abstract Thromboxane A 2 (TXA 2 ) biosynthesis is enhanced in the majority of patients with type IIa hypercholesterolemia. Because simvastatin (a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor) was previously shown to reduce platelet aggregation and TXB 2 production ex vivo, we investigated TXA 2 biosynthesis and platelet function in 24 patients with type IIa hypercholesterolemia randomized to receive in a double-blind fashion simvastatin (20 mg/d) or placebo for 3 months. The urinary excretion of 11-dehydro-TXB 2 , largely a reflection of platelet TXA 2 production in vivo, was measured by a previously validated radioimmunoassay technique. Blood lipid levels and urinary 11-dehyd…

Thromboxane biosynthesis, neutrophil and coagulative activation in type IIa hypercholesterolemia

SummaryThromboxane (Tx) A2 biosynthesis is enhanced in the majority of patients with type IIa hypercholesterolemia. Because blood clotting activation is an important component of the inflammatory response, involved in the initiation and progression of atherosclerotic plaques, we have investigated TxA2 biosynthesis, neutrophil activation and thrombin generation in 24 patients with type IIa hypercholesterolemia.Urinary 11-dehydro-TxB2, was significantly higher (p =0.0001) in patients than in 24 sex- and age matched healthy subjects. Similarly, prothrombin fragment 1+2 (F1+2), thrombin-antithrombin III complexes and plasma elastase were significantly higher in patients than incontrols. Urinary…

Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: Effects of l-thyroxine substitution therapy

Thyroid status in humans is an important factor in the regulation of lipoprotein metabolism. There are several data on hypothyroidism in the adult population, but less information is available about congenital hypothyroidism. Since lipid metabolism at birth is substantially different from that of adults, it is not likely that the same abnormalities that occur in adult hypothyroidism are also present when this is diagnosed at early life. We studied 16 subjects with congenital hypothyroidism, seven at the time of diagnosis and also after normalization of thyroid hormone levels over a period of 2.0 +/- 1.0 months of substitution therapy with L-thyroxine (5.9 +/- 1.2 micrograms/kg/d) and nine a…

Intolerance of Cow's Milk and Chronic Constipation in Children

Background Chronic diarrhea is the most common gastrointestinal symptom of intolerance of cow's milk among children. On the basis of a prior open study, we hypothesized that intolerance of cow's milk can also cause severe perianal lesions with pain on defecation and consequent constipation in young children. Methods We performed a double-blind, crossover study comparing cow's milk with soy milk in 65 children (age range, 11 to 72 months) with chronic constipation (defined as having one bowel movement every 3 to 15 days). All had been referred to a pediatric gastroenterology clinic and had previously been treated with laxatives without success; 49 had anal fissures and perianal erythema or e…

Pancreatic insufficiency in celiac disease is not dependent on nutritional status

To determine the relationship between pancreatic secretory capacity and nutritional status in celiac patients, we studied 52 patients with celiac disease (24 males, 28 females; age range 6-36 months) and 30 healthy control subjects (14 males, 16 females; age range 6-42 months). A secretin-cerulein test was performed on all patients, and levels of serum albumin and plasma fibronectin were assayed. In addition, weight/height ratios were calculated in the celiacs, who were then divided into three groups on this basis, as follows: celiacs with weight/height ratioor = 3rd percentile; those with weight/height ratio between the 4th and 10th percentiles; and those with weight/height ratio10th perce…

PREVALENCE OF APOB VARIANTS IN A SAMPLE OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

Long-term effects of lercanidipine on the lipoprotein and apolipoprotein profile of patients with mild-to-moderate essential hypertension

Abstract The goal of this multicenter, randomized, double-masked, parallel- group study was to assess the effects of lercanidipine versus those of hydrochlorothiazide (HCTZ) on the lipoprotein and apolipoprotein profile of patients with mild-to-moderate essential hypertension. After a 2-week washout period, 52 patients (age range, 18 to 70 years) were randomly allocated to receive lercanidipine 10 mg (n = 26) or HCTZ 12.5 mg (n = 26) once a day for 24 weeks. In nonresponding patients, the dose was increased to 20 or 30 mg of lercanidipine once a day and to 25 or 37.5 mg of HCTZ once a day, after 4 and 8 weeks, respectively. To assess long-term effects, patients receiving lercanidipine enter…

CARDIOVASCULAR RISK FACTORS ANALYSIS OF PEDIATRIC MATABOLIC SYNDROME

The metabolic syndrome predicts cardiovascular events in subjects with normal fasting glucose: results of a 15 years follow-up in a Mediterranean population.

The aim of this study was to evaluate the cardiovascular (CV) risk due to the metabolic syndrome in a 15-year prospective study of a Sicilian population. In the Mediterranean area obesity is highly prevalent, but epidemiological data on the metabolic syndrome are limited. Methods and results: Among the 1351 subjects enrolled in the “Ventimiglia di Sicilia” epidemiological project, we selected 687 subjects between 35 and 75 years of age; baseline parameters were assessed and subjects have been followed for 15 years recording CV events, total and cardiovascular mortality. The metabolic syndrome was defined according to both the Adult Treatment Panel III and the International Diabetes Federati…