High initial efficacy of full-spectrum therapy for nocturnal enuresis in children and adolescents

OBJECTIVE: To investigate the initial efficacy and predictive factors of full-spectrum therapy in the treatment of children and young adolescents with nocturnal enuresis (NE). PATIENTS AND METHODS: Combined therapy for NE comprises an enuresis alarm, bladder training, motivational therapy and pelvic floor muscle training, and is more effective than each of the components alone or than medical intervention. A total of 60 children and adolescents (aged 4-20 years) with NE were treated once a week with full-spectrum therapy for a maximum of 6 months. RESULTS: Overall the therapy was successful (14 consecutive dry nights) in 52 of 60 patients. At 30 days the cure rate was 33%, after 60 days 72% and after 98 days, 87%. The remaining 13% did not achieve 14 consecutive dry nights; seven patients improved, having fewer dry nights/week. One patient discontinued the treatment because of lack of motivation. In children with an initial maximum bladder capacity less than normal for age, the capacity increased from 53% of the normal maximum bladder capacity in week 1 to 88% at the end of treatment. Neither age, gender, sleep arousal, bladder capacity, family history and pathophysiological profile had any association with the success rate. CONCLUSION: The short-term success rate of full-spectrum therapy for NE is high. Age, gender, sleep arousal, bladder capacity, family history and pathophysiological profile of enuresis are unrelated to the success of the intervention.     

Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]

We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. CASE REPORT: Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. CONCLUSION: Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis.     

Does sucralfate reduce early side effects of pelvic radiation? A double-blind randomized trial.

STUDY AND METHODS: A double-blind placebo-controlled study randomized 108 patients to investigate the effect of sucralfate on gastrointestinal side effects of pelvic radiation. RESULTS: Overall, pelvic radiation with the administered doses and fields and performed according to nowadays technical standards, was well tolerated. Comparison of the mean scores and the peak reactions for radiotherapy discomfort, diarrhoea and number of stools per day in the 80 evaluable patients showed no statistically significant difference between sucralfate and placebo. CONCLUSION: Based on these results, the use of sucralfate can not be recommended as standard practice.     

Handedness, criminality, and sexual offending

A very large database was used to investigate whether men with a history of criminality and/or sexual offending have a higher incidence of nonright-handedness (NRH) relative to a control sample of nonoffender men. The sample (N>8000) comprised interviews by investigators at the Kinsey Institute for Sex and Reproduction in Indiana. The general offender group and a subsample of sex offenders (e.g. pedophiles) had a significantly higher rate of NRH relative to the control (nonoffender) men. In addition, evidence was found that the general criminality/NRH relationship might result from increased educational difficulties that some nonright-handers experience. In contrast, education was unrelated to the handedness/pedophilia relationship, suggesting that there may be a different mechanism underlying the handedness/pedophile relationship than the handedness/(general) criminality relationship. Finally, as a cautionary note, it is stressed that the effects are small and that NRH should not be used as a marker of criminality.     

Relapsing spontaneous pneumopericardium and pneumothorax with proven pleuropericardial defect. A case report.

A pneumopericardium was seen in a 25-year-old man each time he developed a right-sided pneumothorax. The chest roentgenograms were suggestive of a pleuropericardial defect. This was confirmed by subsequent thoracotomy.