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Background and Purpose: Congenital talipes equinovarus (clubfoot) can present in 2 forms: "syndromic", in which other malformations exist, and the more common "idiopathic" form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors., Patients and Methods: Among the 801,324 live births recorded between January 1991 and December 2004, 827 cases were registered (560 males; M/F sex ratio: 2.1). Control infants were randomly selected from a historical cohort of live births without any major congenital malformations., Results: A positive family history of clubfoot, gender, and maternal smoking were found to be risk factors for clubfoot. Patients with clubfoot were born most frequently during the period January-March. No association was found between clubfoot and reproductive history, peri-conceptional maternal drug exposure, maternal education, or ethnicity., Interpretation: Our findings emphasize the importance of birth defects surveillance programs and their usefulness in investigating potential risk factors.

Drug utilisation studies have shown wide differences, among different countries, in the prescribing behaviour in general practice. In Italy, for instance, the choice of antibiotic prescription seems to show a wider use of parental antibiotic. Aim of this study was to describe antibiotic prescribing pattern and therapeutic doses used by Sicilian general practitioners (GPs) and evaluate their prescribing attitudes regarding the use of parental ones. Each practitioner had to fill a questionnaire for each therapeutic intervention ended with an antibiotic prescription during a period of 6 months. Diagnosis and drugs were classified according to the International Classification of Diseases (ICD-10) and to Anatomical Therapeutic Chemical Classification (ATC), respectively. On 9395 prescriptions performed by 76 doctors of 25 Sicilian towns, the analysis indicated that acute respiratory symptoms represent the commonest indication (31.7%) for a medical consultation, and that Macrolides [such as azithromycin (8.8%) and clarithromycin (8.3%)], Penicillin [such as amoxycillin (7.1%%) and co-amoxiclav (8.4%)], III generation of Cephalosporins [such as cefixime (5.5%) and ceftriaxone (5.1%)] represent the most common used therapeutic groups. The choice of the route of administration was influenced by age of the patients and, more significantly, by symptoms and signs of the disease, rather than by bacteria suspected to cause the disease. In conclusion, our data clearly indicate lack of knowledge of antibacterial therapy guidelines among GPs in Sicily, as well as the need of an independent educational training in order to improve knowledge of antibiotics and to decrease the cost of the health care.

We evaluated hematological parameters in 375 Sicilian adults with Hb S trait: Hb S levels were 41.91 +/- 2.65% in males and 40.92 +/- 2.8% in females. RBC, MCV, PCV, MCH, MCHC and total hemoglobin levels were within the normal range. Only mean Hb A2 and Hb F levels were increased (Hb A2 = 2.78 +/- 0.2%; Hb F = 1.05 +/- 0.18%), although they remained inside the normal ranges when compared to healthy controls (Hb A2 = 2.48 +/- 0.19%; Hb F = 0.93 +/- 0.14%) (p less than 0.0005). We conclude that our population does not show the hematological abnormalities such as microcytosis and decreased Hb levels, observed in the Black, Indian, Saudi Arabian carriers, and that the presence of those abnormalities is probably related to the coexistence of alpha-thalassemia, rarely observed in Sicily.

A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non-Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.

Nine Sicilian children known to be deficient in glucose-6-phosphate dehyrdrogenase (G6PD) were studied to see if there were anomalies of bactericidal activity in peripheral blood phagocytes. The type of deficiency was established. The G6PD levels in the leukocyte were found to be 26% of the controls (0.094 +/- 0.03, normal controls 0.360 +/- 0.12). The Michaelis constant for NADP and glucose-6-phosphate (G6P) was lower than the control. Conversely, the utilization of the analogous 2-deoxyglucose-6-phosphate (2dG6P) and galactose-6-phosphate (Ga16P) was higher. The thermostability of the enzyme in the deficient subjects was lower and the pH optima (8 and 9.5) were different from the controls. An identical electrophoretic pattern was found in both normal and deficient subjects. The bactericidal activity in the deficient subjects was normal. There was no difference in the results of nitroblue tetrazolium (NBT) tests in either group.

This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Ga16P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.