Isolated preauricular pits and tags: is it necessary to investigate renal abnormalities and hearing impairment?

We investigated the incidence and co-existence of hearing impairment and renal abnormalities in healthy children with preauricular tags and pits. Study population consists of 13,740 primary school children from routine health check. Thirty-five children with preauricular tags and pits were noted. Control group consisted of 91 patients without pits and tags, who underwent renal ultrasound and were scheduled to pediatric outpatient clinic. Urinalysis, renal ultrasound, otoacoustic emission were performed in both the groups. The prevalence of renal abnormality (1/36; 2.7%) and hearing impairment (1/36; 2.7%) in patients with preauricular tags and pits was similar to that of control group (3/91; 3.2% and 4/91; 4.3%) (P = 0.87, P = 0.64, respectively). According to our results, it is not necessary to investigate hearing or urinary abnormality in patients with preauricular tag or pit, unless there is an association of a syndrome or family history of hearing or renal impairment.     

Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma

One hundred seventy-three consecutive cases of medulloblastoma recorded in the Manchester Children's Tumour Registry from 1954 to 1989 were studied. After review of case notes, X-rays, and health surveys the clinical outcome and incidence of congenital anomaly was determined. A previously unreported association with Rubinstein Taybi syndrome was found. Evidence of a genetic syndrome or congenital anomaly was found in 6.4%. These figures provide further evidence of the higher-than-expected incidence of congenital abnormalities. © 1993 Wiley-Liss, Inc.     

The validity of sacral ratios to identify sacral abnormalities

OBJECTIVE: To test the repeatability and validity of a previously described sacral ratio measurement as a method for detecting sacral abnormalities, as the association between sacral abnormalities and neuropathic bladder is well known but the diagnosis of subtle sacral anomalies is often delayed. MATERIALS AND METHODS: Fifty sacral radiographs (from 30 patients with anorectal anomalies and 20 normal children) were viewed and reported as normal or abnormal by an expert spinal radiologist (reference standard). Sacral ratios (anteroposterior, AP, and lateral) were measured while unaware of origin by four investigators and the inter- and intra-observer variability examined. Validity was assessed by comparing individual sacral ratio values with the radiological diagnosis, using Pena's criteria for a normal sacrum (normal >/= 0.74 AP; >/= 0.77 lateral). RESULTS: Sacral ratio estimates were possible in 48 of the 50 selected radiographs. There was good repeatability of measurements and moderate variability among investigators (P > 0.1). For the 20 normal children the mean (sd) AP sacral ratio was 0.74 (0.156); in the 14 with anorectal conditions and a normal sacrum it was 0.87 (0.16) and in the 12 with an abnormal sacrum 0.64 (0.27). There was a difference (P < 0.02) among the three groups (analysis of variance) but there was wide variability in individual sacral ratios within each group, and considerable overlap of values between normal and abnormal sacra. When all sacra were defined as normal or abnormal using Pena's criteria, there was poor agreement using Cohen's kappa (AP and lateral view) with the radiological diagnosis by all four investigators. CONCLUSION: The sacral ratio has good inter- and intra-observer repeatability. The mean value for a normal AP ratio concurred with that described previously by Pena but the variability of values among similar patients was large, suggesting this single value is of limited value in discriminating a normal from an abnormal sacrum.     

颅脑外伤合并视神经损伤的临床分析

目的 :分析颅脑外伤患者中合并视神经损伤的情况 ,以利诊断、治疗。方法 :对 72 7例颅脑外伤患者中合并有视神经损伤者 3 7例进行回顾性总结 ,就其发生率 ,损伤的机理 ,临床表现 ,诊断和治疗进行了分析。结果 :72 7例颅脑外伤患者中 12 2例合并有各种眼外伤 ,包括眼球破裂 ,眶骨骨折 ,球后血肿 ,等等。合并有视神经损伤者 3 7例 ,其中视神经断裂 9例 ,视神经挫伤 2 8例 ,占 72 7例颅脑外伤的 0 44 % ,占合并有眼外伤 12 2例的 3 0 3 2 %。 18例失明 ,其余 19例均有不同程度视力障碍及视野缺损或偏盲。结论 :在颅脑外伤患者的治疗中应该重视眼科和神经外科医生的密切配合 ,抓住视神经损伤的最佳救治时机。     

四维超声成像在胎儿发育异常中的应用研究

目的以二维超声为基础,探讨3D/4D成像在检测胎儿发育异常中的应用价值。方法对妊娠中晚期的胎儿进行常规二维超声检查、记录,疑似胎儿发育异常的进行3D/4D成像、记录,采集胎儿立体、运动图像,获得形态及行为学影像资料,存入硬盘,检查完后自然回放图像与二维图像对比,据此做出诊断同时让孕妇识别其图像,增加认知度。结果58例疑似病例中,胎儿头面部异常的33例,体表肢体异常的10例,单纯内脏异常的15例。58例常规进行了胎儿头面部立体成像,获满意头面部成像53例,成像率91.3%（其中包括25例疑似体表、肢体、內脏异？±恼M访娌砍？像24例）,异常头面部成像29例,并选择性进行体表四肢立体成像,获胎儿体表肢体异常立体图像6例。同时,让孕妇识别其图像,认知度明显高于二维图像。结论3D/4D成像在产前诊断胎儿异常,特别是小器官的异常,具有形象、真实、准确而快捷的成像优势及对胎儿生命状态评价的特殊功能,是对二维显像的有益补充,同时以它立体成像的优势得到广大受检者及临床医生的认可。3D/4D成像还具备了无创性、直观性、可重复性、可回顾性的优点,具有较高的实用价值和发展空间,可以广泛应用于临床。     

Germanium myopathy: clinical and experimental pathological studies

Summary Pathological examinations were carried out on the skeletal muscle of a patient with germanium intoxication. The prominent histochemical finding was vacuolar myopathy with lipid excess, increased acid phosphatase activity and decreased cytochrome c oxidase activity. Ultrastructural lesions revealed a mitochondrial abnormality, autophagic vacuoles and accumulation of high electron-dense materials in deformed mitochondria and at the periphery of lipid droplets. Furthermore, the toxic effect of germanium on skeletal muscle was confirmed by the experimentally induced germanium myopathy, which showed autophagic degeneration, decreased cytochrome c oxidase activity and a mitochondrial abnormality with high electron-dense materials.     

硫酸铜对小鼠体细胞和生殖细胞致突变作用研究

报告了多次腹腔注射染毒硫酸铜的小鼠微核试验和精子畸形试验结果。微核试验，动物在出现中毒症状的情况下，骨髓嗜多染红细胞微核率未见增高，精子畸形试验，硫酸铜各组的精子畸形率均不高于空白对照组。     

“Y” 形及半 “Y” 形延髓梗死的临床特点及影像学对比分析

摘要： 目的 探讨 “Y” 形及半 “Y” 形延髓梗死患者的临床和影像学特点, 并对两者的临床特点进行对比分析。方法 对我院神经内科收治的11例延髓腹、 中及背三部分 （VMD） 同时发生梗死的延髓内侧梗死 （MMI） 患者进行回顾性分析。结果 11例累及VMD的MMI患者中, 6例发生双侧梗死, 呈 “Y” 形; 单侧梗死者5例, 呈半 “Y” 形。延髓 “Y” 形梗死组常见的症状和体征为饮水呛咳或吞咽困难 （6例）、 头晕或眩晕、 肢体无力、 构音障碍 （5例）、 感觉障碍 （5例）、中枢性呼吸障碍 （3例） 等。延髓半 “Y” 形梗死组常见的症状和体征为头晕或眩晕、 肢体无力、 构音障碍 （4例）、 感觉障碍 （4例） 等, 2组间吞咽困难及呼吸困难发生比例差异明显。“Y” 组和半 “Y” 组梗死存在椎动脉先天变异均较常见, 均为3例。MMI患者除呼吸衰竭者外预后可。结论 延髓 “Y” 形梗死患者出现吞咽困难及呼吸衰竭比例远高于延髓半 “Y” 形梗死患者, 一侧椎优势的椎动脉变异是VMD同时受累的MMI患者的重要解剖基础。