Left ventricular diverticulum A scintigraphic diagnosis

This report describes the scintigraphic features of a congenital left ventricular diverticulum in a child. The types of congenital diverticula of the heart and the possible diagnostic role of nuclear imaging is discussed.     

Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin α2 deficiency in skin biopsy

We studied the immunohistochemical expression of laminin subunits α2, α1, β1 in muscle and skin biopsy samples from three patients with congenital muscular dystrophy (CMD), and from ten control patients investigated for various neuromuscular disorders. Merosin α2 chain was not detectable in the basement membrane of muscle fibers, or in the nerve endings, cutaneous nerves, and corium in the skin of the CMD patients, whereas it was clearly expressed in the skin biopsy samples from control patients, especially in the nerve endings of the arrector pili muscles. Laminin α1 chain was expressed in the corium, in the muscle fiber membranes of arrector pili muscles and in cutaneous nerve fibers, perineurium and blood vessels in controls and in CMD patients. Laminin β1 chain was faintly expressed in the corium, and a diffuse labeling was detected on arrector pili muscle with enhanced expression at nerve endings, intracutaneous nerves and capillaries, with similar findings in all biopsy specimens. For merosin-negative CMD patients, skin biopsy may provide a diagnostic alternative to muscle biopsy since merosin deficiency can be demonstrated in the skin neural structures, and in particular in the nerve endings of the arrector pili smooth muscles. Received: 29 October 1996 / Revised, accepted: 27 January 1997     

深圳市宝安区先天性畸形的前期监测研究

目的：为了解深圳市宝安区先天性畸形的发病情况和分布特征,为进一步研究提供线索和参考资料。方法：我们于1997年1月－1999年12月,对宝安区住院分娩的34613例围产儿进行了先天性畸形监测研究,对检出的269例畸形儿进行了流行病学分析。结果：宝安区先天性畸形的总发生率为77．72／万,常住和流动人口中先天性畸形的发生率分别为69．65／万、80．33／万。常住人口中先天性畸形发生率最高的镇为石岩（100．00／万）;其次为观澜（93．21／万）;最低的为光明（未监侧到）。先天性畸形的发生无性别差异,其中发病居前四位的畸形依次为：大腹儿,（Hb病）,短肢或缺肢畸形,先天性脑积水,唇裂合并腭裂。结论：尽管宝安区先天性畸形的发生率比国内外报道的要低,但发生规律有自己的特点,应引起重视和进一步研究。     

先天性心脏病体外循环术后急性肺损伤患儿磷脂酶A2和白细胞介素6的变化及相关性研究

目的探讨磷脂酶A2（PLA2）和白细胞介素6（IL-6）在婴幼儿先天性心脏病体外循环（CPB）术后发生急性肺损伤（ALI）的变化及意义。方法采用酶联免疫吸附试验（ELISA）方法对10例先天性心脏病体外循环术后急性肺损伤的婴幼儿、10例先天性心脏病体外循环术后未发生急性肺损伤的婴幼儿和10例来我院门诊健康体检婴幼儿进行白介素6检测；同时对上述3组研究对象应用酶底物显色法检测磷脂酶A2活性。结果先天性心脏病体外循环术后急性肺损伤患儿的磷脂酶A2及白介素6均较手术前及体外循环术后无肺损伤的患儿以及健康儿童明显升高，呈显著性差异，P〈0．01。结论磷脂酶如及白介素6在婴幼儿先天性心脏病体外循环术后急性肺损伤中升高，并呈正相关。在婴幼儿先天性心脏病体外循环术后急性肺损伤中，如果能及早应用磷脂酶A：抑制剂或早期干预细胞因子释放，对于阻止肺损伤的进一步发展，以免发生急性呼吸窘迫综合征（ARDS）具有重要意义。     

玻璃体视网膜手术治疗先天性视网膜劈裂及其并发症的临床分析

目的：探讨玻璃体视网膜手术治疗先天性视网膜劈裂的临床效果。方法整群选取2012年9月—2014年4月在该院进行治疗的先天性视网膜劈裂的患者37例,随机分为对照组和治疗组,对照组采用传统的手术方法进行治疗,治疗组采用玻璃体视网膜手术进行治疗,比较两组患者的临床效果。结果治疗组患者的视力提高(0.16±0.05),明显高于对照组视力提高的(0.05±0.07),两组相比差异有统计学意义(P<0.05);治疗组患者原发性和牵引性视网膜脱离并发症的发生率分别为44%和16%,明显低于对照组的58.34%和33.33%,两组相比差异有统计学意义(P<0.05)。结论玻璃体视网膜手术治疗先天性视网膜劈裂,能够有效的组织破裂症进一步恶化,利于改善患者的视力,提高患者的生活质量,值得在临床上推广使用。     

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown. However, the marked reduction of -dystroglycan glycosylation in the muscle of MDC1C and LGMD2I patients suggests a role for FKRP in dystroglycan processing. Using a polyclonal antibody raised against FKRP we now show that endogenous FKRP locates to the Golgi apparatus of neuronal, oligodendroglial, and the cardiac muscle cell line H9c2. In differentiated C2C12 myotubes and in transverse sections of normal skeletal and cardiac muscle, endogenous FKRP surrounded the myonuclei. This localisation was unaffected in the skeletal muscle of patients with MDC1C and LGMD2I carrying various FKRP mutations. These observations imply a specific role for FKRP during striated muscle, neuronal and glial development and suggest that protein mis-localisation is not a common mechanism of disease in FKRP-related dystrophies.     

Ischemic stroke in infancy,childhood, and adolescence

The authors studied 34 patients with juvenile ischemic cerebrovascular disease over a 15-year period. Of the 34 patients, 23 had intracranial occlusions attributed to cerebral thrombosis or embolism and 11 had occlusions resulting from moyamoya disease. Clinicopathological features were evaluated in the 23 cases with ischemic stroke, but not those with moyamoya disease. The cause of the arterial occlusion remained undetermined in 11 patients and was found to be an embolism based on congenital heart disease in 8, on trauma in 3, and on infection in 1. Cerebral angiography was performed in 21 patients. Of these, 17 had stenoses or occlusions corresponding to their symptoms. CT scans were performed in 10 patients; the lesion in question showed no stenosis or occlusion with cerebral angiography. With regard to prognosis, patients with unknown etiology had good outcomes compared with those with congenital heart disease. With respect to acute infantile hemiplegia, 10 patients had convulsive seizures and 4 had a history of an earlier infection. Angiography and CT scans in patients with congenital heart disease demonstrated arterial occlusive sites in the middle cerebral artery region. Three patients had abscesses after their ischemic lesions.     

The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations

The use of a comprehensive follow-up strategy to limit non-participation bias was evaluated in a population-based case-control study of orofacial clefts. Birth parents were requested to provide exposure data, and index children and parents were asked to provide blood specimens. Follow-up included telephone or postal reminders every two weeks for up to three months. Consent to participate was received from 281 (76.6%) case mothers and 246 (72.4%) case fathers. The corresponding totals for controls were 279 (54.7%) and 245 (49.8%). Evaluation of participation rates by intensity of follow-up showed that 23% of case and 18% of control families consented without reminders (first stage); 81% of cases and 83% of controls agreed following one or two reminders (second stage); and the remainder of participants consented following three or more reminders (final stage). Cumulative distributions of sociodemographic characteristics differed little between second and final stage participants. Odds ratios for maternal multivitamin use were similar between second and final stage participants, whereas those for maternal and paternal smoking tended to decline. Although follow-up measures were necessary to enroll most families, use of more than two reminders did not appear to increase the representativeness of the sample; however, termination of recruitment after only two reminders would have led to different conclusions. Future studies require data collection protocols that encourage participation from all population subgroups, and one alternative is presented.