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Biomedical subjects

S Musumeci

Publications and source records attributed to S Musumeci.

At least 55 records · Page 3Linked to original sources

[Chronic idiopathic hypertransaminasemia].

The elevation of aminotransferase serum levels is frequently encountered in pediatric practice. We have retrospectively evaluated the clinical patterns of 108 patients with chronic, so called "idiopathic", alterations of aminotransferases, by sending a questionnaire to 11 Italian Pediatric Centers. The average period of follow-up was 22 months. Patients, whose ages ranged through all pediatric ages, were mostly asymptomatic and with a rather insignificant physical examination. The average rise of aminotransferases value was generally limited within 2 times the upper normal level and the highest value, during the period of follow-up, never exceeded 5 times the upper normal level. Other liver function tests did not result generally altered significant. Just 25,9% of the patients normalized aminotransferases serum level during the follow-up period. All maintained good physical status with no clinical signs of liver disease. A muscular cause of hyper-transaminasemia was excluded in all the cases. Possible infective causes (HBV and HCV) autoimmune hepatitis, Wilson disease, alfa1 antitripsine deficiency and hyperammoniemia were excluded. Ultrasound investigation did not seem to be a sensitive investigation, resulting negative in 54/82. Histologic liver examination was more informative. This evaluation, performed in 46/108 patients, showed infarct metabolic alterations (steatosis, nucleus glucogenic degeneration, cytoplasmatic clarification) in 65% of cases and inflammatory findings in only 13% of cases. In conclusion, our results suggest the opportunity to enclose liver histologic study in the diagnostic approach of children with hepatic idiopathic chronic hypertransaminasemia. This approach may address the clinician, in a more aimed way, towards further investigations.

Adolescent↗

Comparison of rest-redistribution thallium-201 imaging and reinjection after stress-redistribution for the assessment of myocardial viability in patients with left ventricular dysfunction secondary to coronary artery disease.

Thallium (Tl)-201 reinjection after stress-redistribution (RI) imaging has been proven to accurately identify ischemic and viable myocardium. Quantitative Tl-201 analysis after stress has also shown viable myocardium in most mild to moderate (51% to 85% of normal uptake) irreversible Tl-201 defects. However, if the main clinical question is whether a region is viable, and not whether there is inducible ischemia, a resting protocol may be more appropriate. The aim of this study was to determine whether rest-redistribution (RD) quantitative Tl-201 single-photon emission tomographic imaging provides the same information on viable myocardium as Tl-201 RI. Thus, 15 patients (mean age 58 +/- 9 years) with chronic coronary artery disease and left ventricular dysfunction (ejection fraction 35 +/- 8%) were studied by both RI and RD Tl-201 single-photon emission tomography. Regional Tl-201 uptake was assessed quantitatively using a 16-segment model. When Tl-201 images were classified as normal/reversible (viable) or irreversible (nonviable), RI showed viable myocardium in 145 of 240 myocardial regions (60%), whereas RD showed it in 103 of 240 myocardial regions (43%). The 2 imaging protocols provided concordant information in 176 of 240 myocardial regions (73%). Among the 64 (27%) discordant regions, 53 (22%) were viable by RI and nonviable by RD, whereas 11 (5%) were viable by RD and nonviable by RI (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Thallium-201-SPECT and 99Tc-HM-PAO SPECT imaging to study functionally cerebral supratentorial neoplasms: the biological basis of the functional imaging interpretation.

Nineteen patients with histologically diagnosed supratentorial cerebral neoplasms carried out CT and/or MRI, 201T1 SPECT and 99mTc-HM-PAO studies preoperatively. 99mTc-HM-PAO SPECT images revealed information about both tumoral perfusion and intracellular concentration of mediators converting 99mTc-HM-PAO to hydrophilic derivates (glutathione and other yet unknown factors) within viable tumoral cells while 201T1 SPECT images about permeability, extension of tumoral capillary network and viable tumoral cells presence. Basing on the different mechanisms of the tracer uptake, cerebral supratentorial tumors could be distinguished in three groups: 1) cerebral tumors presenting 201T1 very high uptake (201T1 index > 1.5) and homogeneous and high retention of 99mTc-HM-PAO (CBI > or = 1.05) (meningiomas, PRL adenoma); histologically these neoplasms presented very rich neoformed capillary network; 2) cerebral neoplasms with 201T1 high uptake (201T1 index > 1.5) and with inhomogeneous retention of 99Tc-HM-PAO (high grade gliomas amd metastasis); microscopically these tumors presented vascular proliferation, necrosis and high cellularity; 3) cerebral neoplasms characterized by 201T1 low uptake (201T1 index < 1.5) and lower retention of 99Tc-HM-PAO than cerebellum (low grade gliomas); at microscopic examination these neoplasms were characterized by absence of vascular proliferation and necrosis. These results suggest coupled 201T1/99Tc-HM-PAO SPECT is necessary to discriminate intra-axial from extra-axial tumor localization (lacking CT or MRI) and to detect the grade of malignancy of gliomas and tumor cell presence within necrotic areas.

Adult↗

[Evaluation of sensitivity and specificity of antigliadin antibodies for the diagnosis of celiac disease in childhood].

A retrospective study with the aim of evaluating sensitivity and specificity of antigliadin antibodies (AGA) was carried out. AGA values, IgA and IgG, and mucosal damage at intestinal biopsy were compared in each subject, on a sample of 245 subjects, who had undergone intestinal biopsy because of suspected coeliac disease (CD), from January 1991 to December 1993. 130 subjects (53.1%) were found to be suffering from CD, whereas the remaining 115 subjects (46.9%), who did not show any signs of the disease, were considered as controls. When we compared AGA values with mucosal damage we observed that IgA were normal in 24 (18.5%) and pathological in 106 (81.5%) coeliac patients, whereas they were normal in 107 (93%) and pathological in 8 (7%) controls. IgG values were normal in 17 (13.1%) and pathological in 113 (86.9%) coeliac patients, but normal in 75 (65.2%) and pathological in 40 (34.8%) controls. Data about AGA sensitivity related to age, showed IgA sensitivity varying from 80.4% in children under 1 year old to 70% in children over 10 years old and IgG sensitivity from 94.1% to 50%. Data about specificity related to age, showed IgA sensitivity varying from 78.7% in children under 1 year old to 100% in children over 10 years old and IgG specificity from 30.4% to 90.9%. Our results indicated that AGA-IgA had a total sensitivity or 81.5%, a total specificity of 93% and a concordance with intestinal damage of 86.9% while AGA-IgG had a total sensitivity of 86.9%, a total specificity of 65.2% and a concordance with intestinal damage of 76.7%. These data presented a modification on the basis of age, being higher in children under 3 years of age and decreasing with the increase in age. We conclude that AGA have great importance in suspect CD, but it is most important that their results are evaluated on the basis of age.

Antibodies↗

[Myocardial revascularization in aged patients: what is the surgical risk?].

There are still controversies about the surgical results of myocardial revascularization in aged population, in terms of cardiac and non-cardiac morbidity and mortality. This issue prompted us to study retrospectively 71 patients older than 75 years electively operated of coronary artery bypass grafting (CABG) from June 1990 to June 1993 (Group A). Elderly population was compared with a contemporaneous and concurrent control group of patients younger than 75 years (Group B). Patients > 75 years have been divided in successive subgroups according to the severity of coronary artery disease (3 vessel disease 67.7%, 2 vessel disease 26.7%, 1 vessel disease 5.6%), echocardiographic ejection fraction (EF > 50%: 40.8%; 50-30%: 42.2%; < 30%: 16.9%) and preoperative risk factors. Left internal thoracic artery (LITA) utilization rate was 97.1% in Group B and 57.7% in Group A (p < 0.001). Cardiopulmonary bypass circulation, aortic cross-clamping time and number of coronary anastomoses were similar in the 2 groups (2.87 +/- 0.9 versus 2.8 +/- 0.8, NS). Operative mortality rate of aged population was 4.2% while no patient of Group B died (NS). Concerning the cardiac morbidity, there were no significantly differences between the 2 groups: myocardial infarction occurred in 3 patients of Group B (4.2%) and in 5 patients of Group A (7%; NS). Atrioventricular block was also similar in the 2 groups. Non-cardiac complications occurred more frequently in the aged population group: neurologic complications in 11.2% versus 1.4% (p < 0.04), renal insufficiency in 12.6% versus 1.4% (p < 0.03) and respiratory failure in 9.8% versus 1.4% (p = 0.06). (ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗

Immune response to simultaneous administration of a recombinant DNA hepatitis B vaccine and multiple compulsory vaccines in infancy.

The reactogenicity and immunogenicity of simultaneous administration of recombinant DNA hepatitis B vaccine with diphtheria and tetanus toxoids (DT) and oral poliovirus vaccine (OPV) in 111 infants were compared with those of DT and OPV alone in a control group of 21 infants. All subjects received three doses of the vaccine according to one of three different schedules of vaccination. Reactions following simultaneous administration of vaccines were all but absent, with mild pain reported for four out of 111 subjects, compared with one of 21 in the control group. Seroconversion rates of 98-100% and high anti-HBs geometric mean titres (GMTs) were observed in all study groups after three doses of hepatitis B vaccine. Significantly higher anti-HBs were seen in Group III, where six months is allowed between the second and the third hepatitis B vaccine doses, compared with Group I and II, where only 1-2 months separate the second and third doses. A fourth dose of vaccine was needed in both these groups to obtain anti-HBs levels as high as seen in Group III after three vaccine doses at 3, 4 and 10 months of age. The immune response to DT and OPV was similar in the study groups and the control group. It is concluded that a course of 10 micrograms doses of recombinant hepatitis B vaccine given simultaneously with DT and OPV elicits a strong anti-HBs response and does not interfere with the immune response to the other antigens.

Antibodies, Viral↗

Neopterin as a marker of C hepatitis in thalassaemia major.

The authors studied serum neopterin in 106 patients with beta thalassaemia major. A good correlation was found between neopterin values and glutamic pyruvic transaminase (GPT) mean values of the last 6 months, whereas no correlation was found between neopterin values and some siderosis indexes (iron/body weight, total accumulated iron). A statistically significant correlation was found between neopterin values (greater than 10 nM/L vs. less than 10 nM/L) and histological liver findings (chronic hepatitis vs. siderosis). Neopterin values were also statistically different between splenectomized and not splenectomized patients. Moreover serum neopterin was higher in HCV-Ab positive than in HCV-Ab negative patients, and 91.6% of the HCV-Ab positive group also showed histological signs of chronic hepatitis. These data suggest that increased serum neopterin might help to identify chronic C hepatitis in thalassaemic patients.

Adolescent↗

Simultaneous administration of HB recombinant vaccine with diphtheria and tetanus toxoid and oral polio vaccine: a pilot study.

An extensive vaccination program to be used in highly endemic areas is the main strategy against the spreading of hepatitis B. The purpose of this study was the evaluation of the immune response to the recombinant HB vaccine administered singly or at the same time as other compulsory vaccines anti-diphtheria, anti-tetanus and oral anti-polio. Evidence was found of the serological efficacy both of HB vaccine and compulsory vaccines with a percentage of seroconversion of 100%. However, the infants who received HB vaccine at birth and at the age of 1 month had titers of antiHBs higher than the infants who received HB vaccine at birth and at 3 months. No difference in antibody levels of compulsory vaccines was observed among the study groups and the controls who received only compulsory vaccines. Our results suggest that HB vaccination must be encouraged and pursued in all newborns.

Diphtheria Toxoid↗

Sanfilippo syndrome type D in two adolescent sisters.

We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts indicated deficiency of N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). However, Northern blot analysis showed apparently normal mRNA encoding GlcNAc-6S sulphatase. These findings suggest that abnormal translation or premature degradation may be responsible for the enzyme defect in these cases of Sanfilippo syndrome type D.

Adolescent↗

Hypertransaminasemia as the first symptom in infant celiac disease.

Two infants admitted for evaluation of hypertransaminasemia had high levels of anti-gliadin IgA and IgG antibodies and histological changes of the duodenal mucosa typical of celiac disease. Although the cause of the liver involvement could not be exactly identified, both the hypertransaminasemia and the histological changes of the mucosa disappeared after a short period of gluten-free diet. Even though two cases are not enough for definite conclusions, the authors suggest that an unexplained increase in transaminases would require an evaluation for celiac disease.

Alanine Transaminase↗

Immune response of subjects at high risk of hepatitis B to a new genetically engineered hepatitis B vaccine administered in low doses by the intradermal route.

Fifty-eight subjects at high risk for hepatitis B were vaccinated with hepatitis B vaccine prepared by a DNA recombinant technique (Engerix B- Smith-Kline Biologicals) by the intradermal route with low doses (5 microgr) at 0, 15, 30 and 45 days on the volar surface of the arms. A positive immune response (100%) was found in all children (5 affected by thalassemia, 5 affected by sickle cell anaemia, 9 affected by neurological handicaps) and in all healthy medical staff. None showed side-effects and the small pigmented macula following vaccination disappeared after a few months. Since the World Health Organization proposed a program of mass vaccination in highly endemic areas for hepatitis B, the authors suggest that the use of the new engineered vaccine in low doses by the intradermal route could represent an effective strategy to realize this project.

Adolescent↗

Intradermal hepatitis B vaccination in thalassaemia.

Fifty six children with thalassaemia, and 118 healthy subjects, who had all been immunised with an intramuscular injection of hepatitis B vaccine (HB-VAX) into the deltoid area three years previously, were given booster doses intradermally. All responders (good = hepatitis B surface (HBs) antibody titre greater than or equal to 10 U/l; poor = HBs antibody titre less than 10 U/l) showed pronounced increase in anti-HBs titre, in many cases above 1000 U/l. We also found positive HBs antibody response after further doses (two to four) at intervals of 15 days in non-responders (those patients who formerly had shown no HBs antibody titre after the conventional schedule of vaccination). The humoral response was always preceded by a delayed tissue hypersensitivity reaction. In conclusion, vaccine against hepatitis B virus given in low doses intradermally produces an effective immune response; it is a useful method of enhancing the antibody response in exposed patients, and of vaccinating those who do not respond initially.

Antibody Formation↗

Ichthyosis and neutral lipid storage disease.

A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.

Genes, Recessive↗