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Objectives: The aim of this epidemiological research is to evaluate the prevalence of genetic diseases and malformative syndromes in paediatric population living in the Macerata county., Material and Methods: All the data were collected through a careful analysis of a specific questionnaire sent to all the family paediatricians., Results: 23,379 children living in Macerata county, aged 0 to 9 years, were evaluated (93.8% of all this paediatric population). Among those were found N 400 cases of genetic diseases and malformative syndromes: Malformations Tot.N. 255 cases (63.3% of the reported cases); Malformative Syndromes Tot. N. 55 cases (27.8% of the reported cases); Endocrinology and Metabolic Diseases Tot. N. 41 cases (10.3% of the reported cases); Osteochondrodysplasia Tot. N. 22 cases (5.7% of the reported cases); Other Tot. N. 28 cases (7.0% of the reported cases); Male population was found more affected than female: M/F ratio = 1.4. The analysis of the data showed an increasing trend in detecting these pathological conditions, consistent with the increase in geographic altitude (3 areas considered): 0-100 meter = 0.88%; 100-600 m.a.s. = 1.34%; over 600 m.a.s. = 1.88%., Conclusion: The knowledge of the number of children affected by genetic and malformative diseases in the Macerata county is relevant in order to establish a Genetic Service with the aim to better support the medical assistance of these patients and counselling service for the families.

Leptospirosis is a world-wide diffused anthropozoonosis due to many strains of Leptospira. Initial symptoms may be mild, although in many cases severe systemic symptoms, including high fever, hypotension, etc. may be present since the beginning. In these latter circumstances, the diagnosis of leptospirosis can be very difficult because of the complexity of clinical picture especially when the history is lacking or incomplete. A case report of a 45 year-old man admitted to the hospital after severe jaundice and fever of unknown origin associated to altered mental status, renal failure and hypoxemia is presented. Because of the presence of septic shock and severe respiratory failure, the patient was transferred to the intensive care unit. The diagnostic hypothesis, based on clinical history, was confirmed by laboratory tests (leptospiral IgM antibodies detection). Therapeutical approach with the use of selected antibiotics (penicillin 24,000,000 U for day) and therapy of septic shock led to improvement of the patient's clinical conditions who was then transferred to a regular medical ward.

Goal of the Study: To evaluate the use of the laryngeal mask during general anesthesia., Study Design: We prospectively studied patients undergoing surgery with general anesthesia in spontaneous breathing., Environment: Urologic and general surgical ward, with standard monitoring equipment., Patients: We studied consecutively 100 patients (ASA 1-3, 80 males, 20 females, age 64 +/- 15 years, range 19-98 years); 59 patients had a preexisting cardiopulmonary or metabolic disease. Monitoring included ECG, the arterial pressure (noninvasive), the CO2 capnography (EtCO2), the pulsossimetry (SpO2), the respiratory rate (RR) and the tidal volume/kg (TVi). The double product (DP = heart rate X systolic arterial pressure) was used as an index of cardiac stress. These parameters were recorded at 10-minute intervals throughout the procedure., Results: The heart rate, the systolic arterial pressure remained stable during the anesthesia, whereas the DP significantly decreased at t10, t20, t30 and t40. The EtCO2 decreased slightly (from 41 +/- 6 to a 36 +/- 4 mmHg; p.n.s.), SpO2 did not change (from 97 +/- 2% to 96 +/- 2%; p:n.s.). The RR significantly increased at t30 and t40 and the TVi significantly increased during the first hour. No relevant complications have been reported., Conclusions: Anesthesia with laryngeal mask was not associated with any detrimental cardiovascular and respiratory effect.

Malignant hyperthermia may appear during surgery. It has at least three features: 1) an anesthesiological trigger, usually the association of halothane and succinylcholine; 2) rapid increase in body temperature; 3) widespread muscle hypertonia. The literature is reviewed in an assessment of the physiopathological mechanism underlying the syndrome, with particular reference to the part played by calcium. Experimental data are cited and their similarity with the clinical, laboratory, anatomical, and histopathological picture in man is discussed. A detailed account is also given of two personal cases. Lastly, questions associated with the prevention and treatment of malignant hyperthermia are examined.