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.     

Large colloid cyst in lateral ventricle simulating brain tumour

Summary This case report describes a patient presenting with symptoms of increased intracranial pressure, whose computerized tomographic (CT) scan was highly suggestive of a large low-grade glioma invading the basal ganglia. Magnetic resonance imaging (MRI) revealed a well-demarcated space-occupying mass of increased intensity in the left lateral ventricle and adjacent white matter. Following stereotactic biopsy, which yielded a homogeneous jelly-like material, the mass was removed microsurgically and was found to be most like a colloid cyst on histological examination. Discussion focusses on the clinical and differential diagnostic implications of this very unusual combination of findings.     

巢式PCR检测先天性心脏病心脏石蜡标本中B19病毒的感染

目的：探讨微小病毒Ｂ１９与先天性心脏病（ＣＨＤ）的相关性及可能致畸机理。方法：采用病例对照研究，病例组为２９例ＣＨＤ尸解心脏组织，对照组为３０例同期非先天性畸形尸解心脏组织，应用巢式ＰＣＲ扩增Ｂ１９－ＤＮＡ，单纯疱疹病毒（ＨＳＶ），兔弓形虫（ＴＯＸ），巨细胞病毒（ＣＭＶ），结果：２９例ＣＨＤＢ１９－ＤＮＡ５例阳性，全瓿对照组为均阴性（Ｐ＝０．０２３７），ＨＳＶ，ＴＯＸ两组中均阴性，ＣＭＶ在两组中均     

四叠体池蛛网膜囊肿

目的:探讨四叠体池蛛网膜囊肿的临床特征和治疗方法。方法:对11例四叠体池蛛网膜囊肿进行了回顾性总结分析。所采用的手术方法有:①脑室分流手术;②囊肿-腹腔分流术;③囊肿切除;④囊肿切除加囊肿-脑池分流术,或囊肿部分切除(即囊肿开窗术),或囊肿切除加脑室-脑池分流术。结果:其主要临床表现以颅内压增高症和中线综合征为主。上述方法中单纯囊肿壁切除只能使部分病人的病情缓解,脑室分流或囊肿切除加脑室分流手术的疗效较好。结论:四叠体区蛛网膜囊肿常合并梗阻性脑积水,单纯囊肿切除不能解除多数病人的梗阻性脑积水。作者根据囊肿是否与蛛网膜下腔相通提出:对交通性蛛网膜囊肿采用单纯性脑室分流术,对非交通性者采用囊肿切除加脑室分流手术的治疗方法。     

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     

腹腔镜下良性卵巢囊肿手术50例探讨

目的探讨腹腔镜下卵巢囊肿手术的适应证及手术技巧.方法腹腔镜下行卵巢囊肿剥除术、卵巢-卵巢囊肿切除术和输卵管-卵巢切除术50例.结果卵巢囊肿剥除术46例（92%）,卵巢囊肿切除术2例（4%）,输卵管一卵巢切除术3例（6%）.手术时间30～120min,平均58min.术中出血＜20ml,无中转开腹者,无气栓、出血、感染等严重并发症发生.术后病理诊断：卵巢巧克力囊肿23例（46%）、良性畸胎瘤10例（20%）、卵巢冠囊肿8例（16%）、黄素囊肿5例（10%）、浆液性囊肿3例（6%）、纤维瘤1例（2%）.结论腹腔镜手术治疗良性卵巢囊肿具有微创手术的优点.     

支撑喉镜下射频加囊肿揭盖术治疗会厌囊肿的临床研究

目的探讨囊肿揭盖术、囊肿揭盖术＋射频、射频＋囊肿揭盖术治疗会厌囊肿3种术式的疗效及其优劣。方法57例随机分为3组：单纯囊肿揭盖术组、囊肿揭盖术＋射频治疗组及射频＋囊肿揭盖术组。3组均采用表面麻醉＋强化麻醉经支撑喉镜下手术。随访6-12个月，比较3组总有效率、术中出血量及手术时间。结果3种术式总有效率均为100％，差异无显著性。囊肿揭盖术＋射频治疗组、射频＋囊肿揭盖术组与对照组比较，术中出血量、手术时间的差异均有显著性；囊肿揭盖术＋射频治疗组、射频＋囊肿揭盖术组术中出血量、手术时间相比较，差异均有显著性。结论3种术式均是治疗会厌囊肿的有效方法。射频＋囊肿揭盖术具有出血更少、手术时间更短、病人痛苦更小等优点，值得临床推广应用。