Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females

XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of the cAMP-dependent serine threonine protein kinase gene family. Abnormal interchange can occur anywhere on Xp/Yp proximal to SRY. We can show that abnormal interchange happens particularly frequently between PRKX and PRKY. In a collection of 26 XX males and four XY females, between 27 and 35% of the interchanges take place between PRK homologues but at different sites within the gene. PRKY and PRKX are located far from the pseudoautosomal region where XY exchange normally takes place. The unprecedented high sequence identity and identical orientation of PRKY to its homologous partner on the X chromosome, PRKX, explains the high frequency of abnormal pairing and subsequent ectopic recombination, leading to XX males and XY females and to the highest rate of recombination outside the pseudoautosomal region.      

Video laparoscopic cholecystectomy in a female patient with cholelithiasis in Steinert's myotonic dystrophy

Steinert's disease (SD) is a rare (3-5/100000) myotonic myopathy responsible for chronic restrictive respiratory insufficiency and dilatative myocardiopathy. The authors report the case of a 52-years-old female patient with SD who underwent laparoscopic cholecystectomy for cholelithiasis. Postoperative course was uneventful and the patient was discharged after 4 days. Laparoscopic surgery was effective and safe in the treatment of this pathology.     

Mothers' reports of infant crying and soothing in a multicultural population

OBJECTIVES: To investigate the prevalence of infant crying and maternal soothing techniques in relation to ethnic origin and other sociodemographic variables. DESIGN: A questionnaire survey among mothers of 2-3 month old infants registered at six child health clinics in Amsterdam, the Netherlands. SUBJECTS: A questionnaire on sociodemographic characteristics and crying behaviour was completed for 1826 of 2180 (84%) infants invited with their parents to visit the child health clinics. A questionnaire on soothing techniques was also filled out at home for 1142 (63%) of these infants. RESULTS: Overall prevalences of "crying for three or more hours/24 hour day" "crying a lot", and "difficult to comfort" were 7.6%, 14.0%, and 10.3%, respectively. Problematic infant crying was reported by 20.3% of the mothers. Of these infants, only 14% met all three inclusion criteria. Problematic crying occurred less frequently among girls, second and later born children, Surinamese infants, and breast fed infants. Many mothers used soothing techniques that could affect their infant's health negatively. Shaking, slapping, and putting the baby to sleep in a prone position were more common among non-Dutch (especially Turkish) mothers than among Dutch mothers. Poorly educated mothers slapped their baby more often than highly educated mothers. CONCLUSIONS: Mothers' reports of infant crying and soothing varied sociodemographically. Much harm may be prevented by counselling parents (especially immigrants) on how and how not to respond to infant crying. Health education should start before the child's birth, because certain soothing techniques could be fatal, even when practised for the first time.     

Sleeping position for infants and cot death in The Netherlands 1985-91

Until the early 1970s the traditional sleeping position for Dutch infants was not prone. After a much publicised lecture in October 1987 on the possible relation between sleeping prone and cot death, the fairly new habit of placing infants prone is being replaced by more traditional positions. The decrease in the prevalence of the prone sleeping position has been documented in six studies. Since 1987 the incidence of registered cot deaths has decreased from 1.04/1000 live births in 1986 to 0.44 in 1991; the real decrease of sudden unexpected death in infancy, however, is greater.     

Elevated short chain fatty acid concentrations in anaerobic small bowel contamination

Viable bacteria were identified and counted, and short chain fatty acid concentrations measured in small intestinal fluid from 74 fasting children. In nine children with anaerobic small bowel contamination, individual and total short chain fatty acid concentrations were significantly higher than the remainder of the group (p less than 0.01). Using 100 mumol/l as the upper reference limit for total short chain fatty acid concentration, the sensitivity and specificity as a test for anaerobic small bowel contamination was 89% and 98%, respectively. Measuring luminal short chain fatty acid concentrations in proximal small intestinal fluid is an accurate method for detecting anaerobic small bowel contamination in children.     

Pulmonary function in infants with cystic fibrosis: the effect of antibiotic treatment

Since 1982 all infants born within the East Anglian Regional Health Authority have been screened for cystic fibrosis. Between April 1985 and April 1992 infants identified in this way have been entered into a randomised prospective controlled trial of antibiotic prophylaxis. Approximately half the infants received continuous oral flucloxacillin and the remainder received antibiotics when clinically indicated. Infants underwent tests of respiratory function at 3-4 months and at 1 year of age. Measurements of thoracic gas volume and airway conductance were made with an infant whole body plethysmograph, and maximum expiratory flow by the 'squeeze' technique. A total of 73 tests was performed of 42 infants. To facilitate comparisons, measurements were expressed as scores. The mean values of the scores for the two groups of infants fell within normal limits. There was no difference between the treatment groups at either age. A reduction in airways conductance was observed between the two tests.     

兔膝关节腔注射^32P-磷酸铬胶体后外周血淋巴细胞染色体畸变率的变化

目的观察32P-磷酸铬胶体注入兔类风湿关节炎模型膝关节腔后对外周血淋巴细胞染色体畸变率的影响。方法9只新西兰兔随机分成3组,A组3只为正常对照;B组3只为模型对照;C组3只诱导成模型1周后,右膝关节腔内各注射32P-胶体磷酸铬44.4MBq。3组均在C组核素注射后2个月时经耳缘静脉采血,其中C组另在核素注射前、注射后3d时采血。经培养后比较各组分裂中期淋巴细胞染色体畸变率的变化。结果A、B、C3组外周血淋巴细胞染色体观察均未见双着丝粒,无着丝粒断片率3组无明显差异(P>0.05)。C组各时间点外周血淋巴细胞染色体观察也未发现双着丝粒,无着丝粒断片率也无明显差异(P>0.05)。结论关节腔注射实验剂量的32P-磷酸铬胶体,兔外周血淋巴细胞畸变率的波动在正常范围内,说明放射性滑膜切除术是一种安全的治疗方法。