Congenital healed cleft lip

Congenital “healed” cleft lip (CHCL) is an unusual anomaly including a paramedian “scar” of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and “collapsed” nostril. Twenty-five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America. Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family. The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery. CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre-occurrence of CHCL in two families suggests a familial predisposition to this phenomenon. © 1995 Wiley-Liss, Inc.     

Congenital esophageal stenosis presenting as noncardiac,esophageal chest pain

Summary A case of a 31-year-old female with congenital esophageal stenosis presenting with symptoms of chest pain caused by esophageal dysmotility is described. The involved segment in congenital esophageal stenosis has a characteristic thickening of the muscularis propria layer, as seen by EUS examination. In these patients, symptoms of dysphagia can be managed with esophageal dilation and noncardiac esophageal chest pain responds to pharmacotherapy with diltiazem.The opinions and assertions contained herein are the private ones of the authors and are not to be construed as official policy or reflecting the views of the Army or the Department of Defense.     

Symptomatic liver cyst: Special reference to surgical management

We conducted a retrospective study of 14 patients with symptomatic liver cysts to evaluate current therapeutic interventions for this condition. Abdominal pain (n = 7) or abdominal mass (n = 5) were the most frequent presentations. Three patients also had renal cyst. Percutaneous aspiration with ethanol sclerotheraphy was carried out in 4 patients and all cysts so treated diminished in size, with relief of the symptoms. One patient was treated by aspiration only and re-retension occurred. Cystectomy was performed in 2 patients, unroofing in 5, and fenestration in 2 patients. All patients gained relief of symptoms, with no recurrence of symptoms. Computed tomography revealed that the cysts were diminished or were no longer observable after all the treatments. Our experience indicates that unroofing, fenestration, and cystectomy are safe and suitable procedures for treatment of the condition. Ethanol sclerotherapy may be a feasible alternative to surgical intervention in selected patients. Received for publication on July 23, 1997; accepted on Dec. 25, 1997     

Volume of tarsal bones in congenital clubfoot

To elucidate the growth of the tarsal bones in congenital clubfoot, relative to the growth of these bones in the unaffected feet and compared to growth in the feet of normal volunteers, we used a computed tomography (CT) scanner to measure the volume of all tarsal bones. The subjects of the study were 10 adults (7 men and 3 women) with unilateral congenital clubfoot (average age 20 years and 1 month). As controls, we examined 11 healthy volunteers. We calculated the ratio of the volume of each tarsal bone to the total bone volume and the ratio of the volume of each tarsal bone in clubfoot to the corresponding bone in the unaffected foot. The volume ratio of each tarsal bone was compared between clubfeet and unaffected feet because the differences of each tarsal bone ratio between the normal foot group and unaffected foot group were not significant. In the clubfeet (n=10), the talus and the medial cuneiform bones were smaller than those in the unaffected feet (n=10) but the cuboid bone was larger. The growth of the navicular did not differ from as that in unaffected feet. Our results suggested hypoplasia on the medial side of the foot in adult patients with congenital clubfoot. The 3 patients who had undergone medial release showed particularly marked hypoplasia of the medial side. In congenital clubfoot cases with severe deformities who had undergone wide soft-tissue release operations, there were clear growth suppressions in the talus and the medial cuneiform. We could not determine whether the cause of the growth suppression was the hypoplastic nature of tarsal bones themselves or the surgical obstacles to tarsal bone growth.     

Ultrastructural Observations of The Anterior Chamber Angle Tissues in Congenital Glaucoma

Eighteen trabeculectomy specimens of congenital glaucoma were examined by light and transimssion electron microscopy. The results showed that the primary anomalies in congenital glaucoma included the developmental defects of trabecular meshwork, excessive collagen fibrils in the trabecular matrix, shifting forward of ciliary muscle fibres and persistent mesenchymal tissues in the anterior-chamber angle. The authors also pointed out the importance of the secondary lesions of the trabecular meshwork in the pathogenesis of congenital glaucoma. Eye Science 1994; 10:50-56.     

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。     

血小板活化状态在先天性心脏病中的作用

目的：研究血小板的活化状态在先天性心脏病中的作用。方法：采用流式细胞术测定P选择素的表达作为血小板活化的特异性指标，患者分为非紫绀组32例、紫绀组9例、健康对照组12例．研究先天性心脏病患者血小板活化功能的变化。结果：与健康对照组相比，非紫绀组和紫绀组先天性心脏病患者P选择素的表达均明显升高，紫绀组尤为显著。结论：先天性心脏病患者存在血小板的活化状态，紫绀型先天性心脏病更明显，这可能是引起这些患者止血功能异常的原因之一。     

自身免疫性感音神经性聋豚鼠的子代内耳生理功能研究

目的 :观察自身免疫性感音神经性聋 (ASHL)母豚鼠所产子代内耳生理功能的变化 ,探讨针对内耳的自身免疫因素对子代内耳生理功能的影响及其改变特点。方法 :同种内耳抗原 (CIEAg)持续免疫孕豚鼠 ,采用耳蜗电图 (记录cAP、CM )和眼震电图仪 (记录自发性眼震和冷热空气试验 )测试母鼠和子鼠的听觉和前庭功能 ,并检测血清特异性体液免疫反应。结果 :ASHL模型母豚鼠所产子鼠血清中发现有特异性抗体水平升高 ,部分 (3 /9)出现听觉损伤。非ASHL母鼠和对照组母鼠所产子代未见明显异常。结论 :ASHL雌鼠所产子代可出现感音神经性聋 ,其内耳损伤和功能障碍极可能与针对内耳组织的自身免疫反应 (尤其是体液免疫 )有关 ,从而提示内耳自身免疫因素可能为部分先天性非遗传性感音神经性聋的病因之一。     

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.     

双腔右心室(附四例报告)

本文对我院1983～1985年经手术证实的4例双腔右心室病例,进行了分析讨论。本病除右心导管检查发现肺动脉与右心室有压力阶差移行曲线、右心造影时心腔内显示充盈缺损、超声心动图等检查有助于诊断外,X线心脏平片、心电图、临床症状、体征均无特异性的诊断价值。认为,由于本病多合并室缺,因此对室缺修补时,应常规探查右心室腔,以免漏诊。另外,对本病与法乐氏四联症的鉴别作了较详细的讨论。