Ocular findings in familial adenomatous polyposis

Background: Retinal pigment epithelium (RPE)lesions are predictive congenital phenotypic markersfor familial adenomatous polyposis (FAP). Thisprospective screening study aims at assessing theincidence and significance of these lesions in FAPpatients and their family members.Methods: Sixty-two members from three familiesincluding five patients with the diagnosis of FAP havebeen ophthalmologically surveyed. All RPE lesions weredocumented with fundus photography and fluoresceinangiography was performed in 13 subjects.Sigmoidoscopy and/or radiological examination wereperformed annually in 9 family members with typicalRPE lesions during 4 years to allow early diagnosis ofFAP.Results: Typical RPE lesions were present infive FAP patients and 15 family members.Telangiectatic dilatations in the retinal peripherywith small dot-like hemorrhages were detected in 6subjects from 3 families These lesions wereparticularly evident on fluorescein angiography.Annual colon analysis showed polyps in 3 out of 9subjects who were positive for RPE lesions.Conclusion: RPE lesions are valuable as aclinical marker in predicting FAP. The co-existingperipheral vascular alterations which have not beenreported before, are probably related to FAP.     

低位无肛术术中完整保留瘘口组织的必要性和可行性

目的探讨低位肛门直肠畸形术术中保留瘘口组织的必要性和可行性。方法对67例无肛前庭及会阴瘘患儿的临床资料进行回顾性分析。其中女童无肛前庭瘘59例,男童无肛会阴瘘8例。年龄3个月~16岁,平均10个月。患儿多以排便困难或肛门位置异常就诊。4例无肛前庭瘘患儿曾在婴儿期行瘘口后切术。患儿均采用完整保留瘘口的前矢状入路肛门成形术治疗。结果患儿术后3及6个月常规来院复诊,最长随访8年。65例(97.0%)患儿会阴部矢状切口一期愈合,会阴及肛门外观良好;另2例(男、女各1例)术中直肠破损患儿,自修补处穿孔导致会阴部矢状切口感染(占直肠破损修补术的40%),最终形成直肠会阴瘘,但肛门外观良好。67例均采用肛门功能临床评分标准评估患儿排便功能,64例(95.5%)患儿排便功能良好,总评分为5~6分;另3例(男1例,女2例)顽固便秘,需开塞露协助排便。结论低位无肛术中完整保留瘘口组织非常必要。     

Spectral characteristics of early receptor potential in congenital red-green color blindness

The spectral response curve (amplitude versus wavelength) of the R₂ of the early receptor potential (ERP) was studied in normal, protan, and deutan subjects. The R₂ amplitude peaked at 520nm in most normal subjects. The R₂ at long wavelengths was smaller than normal in protans and larger than normal in deutans when the maximum amplitudes were normalized to 100% at the peak. The ratio of the R₂ amplitude at 460 nm to that at 600 nm clearly differed between protans and deutans. The ERP and the rapid off-response, which is mainly due to the cessation of the late receptor potential, were recorded in the same subjects. The ratio of the sensitivity of the rapid off-response at 500 nm to that at 600 nm was correlated with the ratio of the R₂ amplitude at 460 nm to that at 600nm (correlation coefficient, 0.823, p < 0.001). This study, in conjunction with our previous study, indicates that the abnormality is in the outer segments of the cones in protans and deutans.     

Long-term results of open reduction for residual subluxation in congenital dislocation of the hip: A new open reduction method involving 360° circumferential capsulotomy

We report satisfactory results with a new operative treatment, conducted via an extensive anterolateral approach, involving 360 degree circumferential capsulotomy, for residual subluxation in congenital dislocation of the hip (CDH). Long-term radiographic results of this procedure (group A) were compared retrospectively with the results of partial capsulotomy (group B), which preserved the posteroinferior joint capsule. The mean center edge angle in group A (22.5°) was greater than that in group B (16.0°). Satisfactory results were achieved in 11 of 15 hips (73%) (Severin class I or II) in group A, and in 5 of 12 hips (42%) in group B. These results suggest that whole circumferential capsulotomy can remove obstacles to complete reduction, and that acetabular development can be expected in hips reduced by the procedure, without the performance of innominate osteotomy. We believe that our technique is a useful alternative for the treatment of residual subluxation in CDH.     

Successful triplet pregnancy in a patient with a unicornuate uterus with a cavitary communicating rudimentary horn

In a patient with primary infertility, ovulation was inducedby monitored stimulation with human menopausal gonadotrophins(HMG) because of polycystic ovarian disease. Infertility work-uphad shown a unicornuate uterus with a cavitary communicatingrudimentary horn. The husband showed a varicocele-related moderateoligoasthenoterato-zoospermia. A triplet pregnancy occurredin a third HMG ovulation induction cycle combined with intra-uterineinsemination of the husband's washed semen. The pregnancy wascarefully monitored, and measures to prevent premature deliverywere taken. Because of the patient's obvious discomfort in thepresence of premature labour, Caesarean section was performedat 33 weeks gestation and three healthy infants were delivered.This is the first report of a successful triplet pregnancy ina women with a unicornuate uterus. The reproductive and obstetricoutcome of this condition in general, and in the case of multiplepregnancy, is discussed.     

Clinical analysis of congenital bile duct dilatation: Experience with 160 patients over a 7-year period

From July 1989, to June 1996, 160 patients with congenital bile duct dilatation (CBD) were treated at our institution. The incidence of CBD at our institution has increased annually. In approximately 90% of patients with CBD there was associated anomalous arrangement of the pancreaticobiliary ductal system, and we concluded that this was one of the main causes of CBD. Pediatric endoscopic retrograde cholangiopancreatography was first introduced to China in 1989, and has been successfully performed in 90.2% of 92 patients at our institution. We found that age at diagnosis was closely related to the subtype, complications, and mortality of CBD. The subtype also correlated with the presenting symptoms. One hundred and forty-seven of the 160 patients underwent surgery. Of these 147 patients, 136 (92.5%) were cured with normal liver function and 9 (6.1%) improved with liver impairment. Two patients died, one of postoperative pneumonia and one of liver failure. We conclude that early radical surgery and careful postoperative follow-up are essential in the prevention of CBD complications such as cholangitis, pancreatitis, biliary stones, and development of carcinoma. This article is based on a special lecture delivered before the 19th meeting of the Japanese Society of Pancreatico-biliary Maljunction, on September 14, 1996, in Tokyo     

Recurrence risk for major congenital heart defects in Sweden: A registry study

During the period 1981–1986, 1605 infants presenting a major congenital heart defect (CHD) were identified in Sweden. Using the personal identification numbers of the mothers, 1507 of them could be linked to the Medical Birth Registry and two controls were selected for each infant. For this total of 4521 infants, 2686 postoccurrence sibs born during the period 1981–1989 were identified from the Medical Birth Registry. The tendency to have one or more sibs was higher among cases than among controls and was correlated to the life status of the proband. This tendency did not vary according to the type of CHD when controlling for life status. The prevalence at birth of CHD was almost four times higher among sibs of CHD infants than among sibs of normal infants. The tendency to have a sib with an extracardiac malformation did not differ between CHD probands and normal probands. The importance of only including births occurring after the proband when evaluating recurrence risks is stressed. © 1994 Wiley-Liss, Inc.     

Early parental adjustment to visible congenital disfigurement

Summary When a baby is born with a visible disfigurement, then parents need to adjust to the loss of the anticipated 'perfect' child and thus accept their baby. The impact of the birth on the parents is described in the context of a measure which identifies areas of potential difficulty. The two groups studied were parents of children with cleft palates and parents of children with congenital hand deficit. A wide range of adjustment was found. There was no significant difference between the two groups in terms of their overall adjustment, but there were individual differences in adjustment which did not relate to the severity or type of anomaly. The only significant variable found to relate to parental adjustment was perceived family support.