原生家庭干涉与夫妻离异倾向:婚姻质量的中介及伴侣支持的调节作用

目的:揭示我国文化下原生家庭干涉与夫妻离异倾向的关系,检验婚姻质量的中介及伴侣支持的调节作用。方法:采用原生家庭干涉量表、关系评估量表、婚姻不稳定性量表-简版、亲密关系支持量表对新婚至孩子小学阶段的341对夫妻进行调查。结果:(1)配偶原生家庭干涉对夫妻离异倾向均有显著正向预测作用,自身原生家庭干涉无显著作用;(2)夫妻双方婚姻质量在妻子配偶原生家庭干涉与双方离异倾向间起部分中介作用;(3)妻子伴侣支持在其配偶原生家庭干涉与双方离异倾向间起调节作用,高伴侣支持能完全缓冲妻子配偶原生家庭干涉对夫妻离异倾向的影响。结论:配偶原生家庭干涉对夫妻离异倾向有直接作用,也可通过削弱婚姻质量起作用,伴侣支持在其中起一定的缓冲作用。     

Infective endocarditis in paediatrics

Infective endocarditis is a result of infection of the endocardium, particularly of the heart valves (native or prosthetic valves). The most common causative organisms in the paediatric population are: Streptococci, Staphylococci and Enterococci. The classical signs of infective endocarditis like Roth spots, Janeway lesions, splinter haemorrhages and Osler's nodes are relatively rare in children. A high index of suspicion in a febrile child with a new murmur, detailed history, meticulous examination, repeated blood cultures, and echocardiography are essential in establishing the diagnosis. Management of infective endocarditis involves a prolonged course of antibiotics, at least for 4–6 weeks depending upon the causative organism and underlying heart condition. Complications of infective endocarditis include congestive heart failure resulting from valvular damage/regurgitation, infective emboli leading to abscesses in other organs and abnormal host immunological responses. Prophylactic antibiotics for dental and other medical procedures like genitourinary tract procedures are no longer recommended in the UK. The emphasis should be on educating children and their parents in early recognition of infective endocarditis. Children at high risk of developing endocarditis should be assessed urgently after clinical suspicion.     

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH

Chromosomal rearrangements involving the (sub)telomeres are an important cause of human genetic diseases: with the development of advanced molecular cytogenetic methods they have been identified as a major cause of mental retardation and/or congenital malformation syndromes. We identified a cryptic unbalanced de novo translocation 10p/13q by subtelomere FISH in a boy with mental and growth retardation (karyotype: 46,XY,der(10)t(10;13)(p15.1;q34)(D10S2488–,D13S296+)). Craniofacial dysmorphisms included frontal bossing, epicanthal folds, long philtrum, thin upper lip, short nose, mild retrognathy and a flat midface. In addition the patient had ASDII, a pyloric stenosis, bilateral inguinal hernias and cryptorchidism. His psychomotor development was significantly delayed. Microsatellite typing revealed the paternal origin of the two chromosomes involved in the rearrangement. By comparing our case with previously published patients with similar aberrations we conclude that the congenital malformations in our case are associated with the partial 10p deletion. The craniofacial features might be attributed to the 13q duplication. The identification of a 10p/13q translocation in our case highlights the importance of searching for cryptic subtelomeric imbalances in mentally retarded patients and helps to further delineate genotype–phenotype correlations in rare chromosomal disturbances.     

Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families

Mutations in the DYT1 gene cause idiopathic torsion dystonia (ITD) transmitted in families as an autosomal dominant trait with incomplete penetrance. The most common mutation, 946delGAG, has been observed in populations with different ethnic and geographic origins. We have investigated 40 individuals from 22 unrelated families with ITD originating from the Land of Valencia, Spain, for the presence of this mutation and we found 5 patients and 6 unaffected subjects from 4 families who were carriers of the mutation. This finding indicates that 18% of families may be diagnosed as DYT1 and that penetrance is reduced. We detected two different geographic and linguistic origins of the Valencian families. However, by haplotype analysis using D9S1260, D9S1261, D9S63 and D9S1262 as flanking markers, we demonstrated that all affected and unaffected carriers shared a common chromosome confirming identical origin of the mutation in the four families. We postulate a unique origin for the 946delGAG mutation in the Land of Valencia and, based on linguistic criterion, we propose that the mutation might have occurred at the beginning of the second millennium. Genetic analysis of another family from Castilla-La Mancha showed a different haplotype segregating with the disease, suggesting that at least two distinct mutational events for the 946delGAG mutation have occurred in Spain.     

不同时机行椎管内阻滞分娩镇痛对镇痛效果及分娩结局的影响

目的 探讨不同时机行椎管内阻滞分娩镇痛对镇痛效果及分娩结局的影响.方法 收集2018年1月至2018年12月期间福建省泉州德诚医院收治临产后要求分娩镇痛产妇252例,随机分为对照组、实验组各126例,对照组在宫口开大3～4 cm时实施镇痛,实验组在宫口开大1～2 cm时实施镇痛,比较两组的镇痛效果及分娩结局.结果 实验...     

不同年龄组妊娠高血压疾病孕妇空腹血糖正常者糖耐量试验对比研究

目的探讨不同年龄组妊娠高血压疾病孕妇空腹血糖（FPG）正常者葡萄糖耐受能力的差别。方法将妊娠高血压孕妇FPG正常者纳入观察组,正常妊娠者纳入对照组。观察组从20周岁到45周岁按每5周岁为一年龄段各设5个小组,即：≥20周岁为A组,≥25周岁为B组,≥30周岁为C组,≥35周岁为D组,≥40周岁、〈45周岁为E组。每小组各按时间顺序入选病例31、32、33、34、30例。入选对象在孕37周加1至38周时进行空腹葡萄糖耐量试验（OGTT）,然后将观察组各小组2小时血糖值（2hPG）进行比较,并与对照组35例对比分析。结果观察组各小组2hPG水平均高于对照组,而且,随着年龄增加愈加显著,其中c组与B组、D组与c组、E组与D组比较均有非常显著意义（P〈0．01）;观察组各小组2hPG升高率均高于对照组,观察组随着年龄增长2hPG升高率逐渐增加,其中E组与D组、D组与C组比较均有统计学意义（P〈0．05）。结论妊娠高血压疾病孕妇FPG正常者葡萄糖耐受能力显著下降。年龄可作为妊娠高血压疾病孕妇糖代谢障碍的预测因素。