[Appropriateness prescribing and doctor's professional responsibility]. / Appropriatezza prescrittiva e responsabilità professionale del medico.

The public health spending has now reached very significant levels, in this sense, the responsibility of the medical doctor assumes a significant importance in medical law. The aim of this paper is to analyze the profile of responsibilities of the medical doctor in the light of recent case law. The appropriateness of prescribing and risk assessment are, according to the authors, the real test on which to test the skill, prudence and diligence which are called prescribers. Guidelines can be a valuable tool for the professional help, knowing, however, limits application of the recommendations where to be reconciling with the prevailing protection of personal rights of the user.

The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population.

OBJECTIVE: Polycystic ovary syndrome (PCOS) is a frequent condition, affecting about 15% of women of reproductive age. Because of its familial occurrence, a multifactorial model of susceptibility, including both genetic and environmental factors, has been proposed. However, the identification of genetic factors has been elusive. DESIGN: Case-control study aimed at evaluating possible associations between functionally relevant variants of the luteinizing hormone/choriogonadotrophin receptor gene (LHCGR) and PCOS phenotype. PATIENTS: A total of 198 PCOS and 187 non-PCOS women, aged 14-35 years, of Sardinian origin, were referred to the outpatient clinic of the Department of Obstetrics and Gynaecology of the University of Cagliari (Sardinia). PCOS diagnosis was based on the Rotterdam criteria. MEASUREMENTS: We determined the genotype of ins18LQ, S291N and S312N variants at the LHCGR locus. Genotype was related to the presence or absence of PCOS and to several clinical and biochemical characteristics. RESULTS: The presence of at least one 312N allele was strongly associated with PCOS risk (OR, 2·04; 95% CI, 1·32-3·14; χ(2) , 10·47; P = 0·001). 312N homozygosity was associated with a further risk increase (OR, 2·73; 95% CI, 1·25-5·95; χ(2) , 6·65; P = 0·01). The number of ins18LQ alleles was associated with LH serum levels in controls (χ(2) , 8·04, P = 0·017). CONCLUSIONS: For the first time, we have identified a genetic variant that is strongly associated with PCOS in an isolated population. These results, if confirmed in other cohorts, may provide the opportunity to test the S312N genotype at the LHCGR locus in fertile women to assess the risk of PCOS. The avoidance of triggering factors like weight increase may improve the reproductive outcome of potentially at-risk subjects.

Could antispasmodic drug reduce pain during hysterosalpingo-contrast sonography (HyCoSy) in infertile patients? A randomized double-blind clinical trial.

OBJECTIVE: To assess the effectiveness of an antispasmodic drug, hyoscine-N-butylbromide, in reducing pain during hysterosalpingo-contrast sonography (HyCoSy). METHODS: Eight hundred and sixteen patients undergoing HyCoSy were randomized to receive 10 mg hyoscine-N-butylbromide (n = 408) or placebo (n = 408) per os, 30 min before the procedure, in a double-blind randomized controlled trial. Immediately after the procedure, the patient was asked to describe any pain experienced in comparison with pain usually suffered during the menstrual cycle, and the operator assigned a pain score between 0 and 4 as follows: 0 (no reaction or discomfort), 1 (slight pain, less than menstrual pain), 2 (moderate pain, exceeding menstrual cramps but no vasovagal reaction), 3 (vasovagal reaction or pain requiring observation in a hospital) and 4 (vasovagal reaction or pain requiring resuscitation). The primary aim was to estimate the difference in pain score, considered as a categorical value, between the active arm of the trial and the control group. The secondary aim was to evaluate if pain is related to tubal patency. RESULTS: There was no difference in pain score between the hyoscine-N-butylbromide group and the placebo group (P = 0.807). There was a negative correlation between pain and tubal patency, regardless of treatment group (P < 0.0001). CONCLUSIONS: Administration of 10 mg antispasmodic drug hyoscine-N-butylbromide does not reduce pain in patients undergoing HyCoSy.

[Hereditary erythrocyte pyruvate kinase abnormality: another kindred from Aargau Canton]. / Hereditäre Pyruvatkinase-Anomalie der Erythrozyten: eine weitere Sippe aus dem Kanton Aargau.

A Swiss family with abnormal red cell pyruvate kinase is described. In two new-born siblings the red cell defect was responsible for marked hyperbilirubinemia. At the present time both children have compensated hemolysis and are clinically healthy. The abnormal enzyme is unstable and has a decreased Hill coefficient and a decreased substrate affinity. It is different from two other enzyme variants found in the same area.

[Intermittent mandatory ventilation in the treatment of the idiopathic respiratory distress syndrome of newborns]. / Intermittierend obligate Beatmung in der Behandlung des idiopathischen Atemnotsyndroms bei Neugeborenen.

Intermittent mandatory ventilation (IMV) is a combination of CPAP and IPPV. In the newborn period it offers the following advantages compared to IPPV alone: weaning is faster, independent control of respiration is maintained and the effect on cardiac venous return is minimized. 36 patients with idiopathic respiratory distress syndrome treated by IMV were compared with 18 patients ventilated with IPPV: IMV reduced the total time on the respirator by more than 50%. Exposure to increased FIO2 and hospital stay were markedly shortened, and the incidence of complications was decreased. Intermittent mandatory ventilation represents an optimal method for stress-free and safe ventilation of newborn infants.