磁共振尿路造影诊断儿童先天性泌尿道畸形的意义

目的 探讨磁共振尿路造影（ＭＲＵ）技术在诊断儿童先天性泌尿道畸形中的应用价值。方法 回顾性分析２４例儿童先天性泌尿道畸形患者,采用快速自旋回波（ＴＳＥ）行ＭＲＵ检查,并与ＩＶＰ和手术结果对照。结果 ２４例中单侧性２０例,双侧性４例。ＭＲＵ的原始图象及ＭＩＰ图象清晰地显示梗阻的部位及程度,结合常规ＭＲＩ,诊断符合率达８８％。结论 ＭＲＵ这一无创性水成像技术,能显示无功能性肾脏的集合系统,并兼有无Ｘ线     

囊肿切除治疗婴儿先天性胆总管囊肿

目的探讨囊肿切除、胆道重建治疗婴儿胆总管囊肿的疗效.方法1984年6月～1999年6月共有15例婴儿先天性胆总管囊肿患儿在我科接受了囊肿切除、胆道重建手术治疗,并对这些患儿进行了随访,随访资料包括症状、体征、B超.钡餐及肝功能检查.结果随访资料完整者12例,除1例术后3个月死于肝功能衰竭外,其余11例成活的患儿生长发育均正常;2例未行套叠瓣的患儿偶有上腹疼痛,但腹痛可自行缓解,钡餐检查见钡剂返流;全组病例肝功均正常,未见胆道结石、消化道溃疡、食道下端静脉曲张.结论囊肿切除、胆道重建治疗婴儿先天性胆总管囊肿可取得满意的疗效.     

Aspects of the aetiology of congenital heart disease

A concise overview of current knowledge on the aetiology ofcongenital heart disease is provided. At present, only 10 to20% of the cases occurring in neonates can be attributed toknown risk factors. Recurrence within relatives, chromosomalanomalies, genetic disorders, maternal diseases and teratogenexposure are addressed briefly; contemporary research modelsand methods, e.g. embryology and genetics and molecular biology,are referred to. A major innovation has been the introductionof the concept of common pathogenetic pathways. Thus, differentteratogenic factors or risk-factors may affect normal developmentat an identical stage and cause similar malformations. Also,the importance of timing of an event is stressed. If the timeframe of exposure does not coincide with embryogenesis any teratogeniceffect may be missed. Large-scale epidemiological studies on fetuses and neonateswith congenital heart disease are introduced as a third modeof research on the aetiology, although this approach is notused efficiently at present; cases of intra-uterine death canbe considered a valuable source of information that needs furtherattention. Combined, the above three lines of research may proveproductive, but the design of a comprehensive research projectwould need to be handled carefully. Possibilities for preventionof the occurrence of cardiovascular malformations are reported.Through lack of knowledge of causality, at present, only secondaryprevention may be possible and hence deserves attention. However,there appears to be no provision for thorough pre-natal screeningtests for congenital heart disease in an unselected population.     

Evaluation of low dose prostaglandin E1 treatment for ductus dependent congenital heart disease

This study reports our experience with low-dose prostaglandin E₁ (PGE₁) treatment of 91 newborns with ductus dependent congenital heart disease (CHD). PGE₁ efficacy, side-effects as well as the cardiovascular and respiratory profile of the patients were analysed. PGE₁ doses > 0.02 g/kg per minute were used for only 5.3% of the total 23 656 h of treatment. The mean systolic blood pressures did not differ from the normal mean for patients with cyanotic CHD, while the diastolic values were lowered. Respiratory support was required only during 13.7% of the total treatment time. Apnoeas occurred in 21 (38%) of the 55 spontaneously breathing infants, who all had a cyanotic CHD. The incidence of apnoeas was lower during treatment with doses < 0.01 g/kg per minute.     

Study of congenital duodenal obstruction

A study of 23 neonates with congenital duodenal obstruction is reported. Their mean gestational age was 38 weeks and mean weight was 2.2 kg. Main clinical features observed were vomiting (100%), which was bilious in 74%, and epigastric fullness with visible peristalsis (74%). Plain X-ray abdomen confirmed the diagnosis in 78%. Associated congenital malformations were seen in 39% of cases. Eleven babies had an intrinsic defect, 11 had extrinsic defect and one baby had combination of intrinsic and extrinsic defect. Malrotations along with band was seen in 39% of cases. Reported mortality was 39%.     

Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There was no involvement of the eyes. Neuropathological examination of the brain of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventral pons, and secondary loss of myelin in the cerebral and cerebellar subcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinated fibers.This investigation is part of the research program Disorders of the Neuromuscular System of the University of Nijmegen     

Povidone-iodine in umbilical cord care interferes with neonatal screening for hypothyroidism

Out of 1346 newborns screened for congenital hypothyroidism, 31 non-hypothyroid infants were summoned because of a thyroid stimulating hormone (TSH) level above 10 U/ml. False-positive TSH levels were significantly more frequent in the babies treated with povidone-iodine (4.6%) than in those treated with either alcohol or triple dye (0.7%).Conclusion Iodine containing solutions should be avoided in umbilical cord care of the newborn     

深圳市一孩先天性残疾家庭的二孩同类病研究

本文对深圳市1990～1997年因独生子女先天残疾通过病残儿鉴定再生育二孩的家庭进行调查,并以同期通过鉴定的后天性残疾家庭为内对照,以农村地区一孩先天残疾未经病残儿鉴定生育二孩的家庭为外对照,了解其二孩先天残疾再发情况,尤其是同类病的再发情况,拟对独生子女病残儿医学鉴定和二胎生育指标的审批工作效果进行评价,为优生工作提供依据。研究结果表明,鉴定组一孩先天残疾家庭二孩先天残疾的患病率为5.81％,与广州市1986～1991年情况类似(5.9％),高于外省(辽宁1990～1992年为1.35％)。鉴定组二胎同类病发生率为2.8％,非鉴定组为4.55％,两组比较虽无统计学差异,但病种上却有不同,鉴定组为再发风险低的血友病、先天性共转性内斜视、脑萎缩,而非鉴定组为再发风险高的先天聋哑、进行性肌萎缩。提示病残儿鉴定工作颇有成效,避免了相当一部分遗传病家庭再次生育残疾儿,但某些环节有待进一步完善;对农村一胎先天残疾家庭生育二胎也必须纳入管理范围。     

胎儿先天性心脏病筛查方法的研究

为尽早确诊胎儿先天性心脏病(简称先心病),对200例胎儿进行B超心动图检查,发现心脏异常36例(18%),其中先心病26例(13％)。测定有高危因素的103例孕母血清风疹病毒抗体IgM,10例阳性(9.7％),其中7例胎儿有先心病(70%),其灵敏度为70％,特异度为92.3％,可做为胎儿先心病的筛查方法。两项检查合用,可提高胎儿先心病的诊断水平。同时提示胎儿超声心动图检查中增加卵圆孔直径和血流的评定可作为房间隔缺损的诊断标准。     

伴有相关疾病的先天性上斜肌麻痹及手术治疗

目的：探讨伴有相关疾病的先天性上斜肌麻痹的诊断与治疗方法,以获得满意的手术效果。方法：查清相关病的病因,排除其对眼部的影响;结合上斜肌检查,确定眼科手术方式和手术量,保证安全地实施手术。结果：使１４例伴有相关疾病的先天性上斜肌麻痹的患者安全地实施了手术,不正常的眼位和头位得到了满意矫正。结论：伴有相关疾病的先天性上斜肌麻痹是较难诊治的眼病;只要设法排除相关疾病对眼部体征的影响,选择适当的手术方式和手术量,就能获得满意的手术效果