Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.     

Neuroleptic malignant syndrome in the intensive therapy unit

A case of the neuroleptic malignant syndrome occurred in a 40-year-old male after administration of chlorpromazine while on an Intensive Therapy Unit. Treatment with dantrolene sodium was successful, and a muscle biopsy was examined in the recovery phase of the illness. The importance of this condition and the difficulties in establishing a diagnosis at an early stage in patients on an Intensive Therapy Unit are discussed, along with implications for treatment.     

Melatonin treatment for rhythm disorder

Abstract We tried melatonin treatment in two patients with non-24 h sleep-wake syndrome, who did not respond to treatments by vitamin B₁₂, bright light therapy, or hypnotics. In one patient, melatonin 5–10 mg improved difficulty in falling asleep and in waking, although it failed to improve the sleep-wake rhythm. In another patient, melatonin 3 mg successfully changed the sleep-wake rhythm from free-running pattern to delayed sleep phase pattern. However, melatonin re-administration after a 4-month drug-free interval failed to improve his free-running sleep-wake rhythm. These results suggest that melatonin acted as a sleep inducer in one patient and as a phase setter in the other, although the effect on the latter patient was transient.     

Development of an animal model for neuroleptic malignant syndrome: heat-exposed rabbits with haloperidol and atropine administration exhibit increased muscle activity, hyperthermia, and high serum creatine phosphokinase level

The neuroleptic malignant syndrome (NMS) is a life-threatening complication of neuroleptic treatment. To elucidate the pathogenesis of NMS, an animal model has been developed. Experimental rabbits treated with haloperidol (1 mg/kg) by intramuscular injection, were studied for the diagnostic symptoms of increased muscle rigidity, elevated body temperature, and high serum creatine phosphokinase (CPK) level. Administration of haloperidol (1 mg/kg) and atropine (0.4 mg/kg), and exposure to high ambient temperature (35°C) induced a significant increase in electromyographic activity with muscle rigidity similar to that observed in patients with NMS. Such rabbits also showed elevated body temperature and serum CPK value. In addition to the similarity of the signs and symptoms, all parameters measured (muscle rigidity, body temperature, and serum CPK level) were normalized by dantrolene treatment. The effectiveness of dantrolene in the experimental animal partially confirms the validity of this animal model for NMS. This experimental animal model for NMS may be useful to elucidate the pathogenesis of NMS.     

改良超滤对婴幼儿心脏手术输血的影响

目的　观察改良超滤技术在婴幼儿体外循环心血管手术中对输血及术后出血的影响。方法　 6 0例接受体外循环下心血管手术的先天性心脏病患儿 ,均分为对照组 (不接受任何超滤 )、常规超滤组 (CUF组 )和改良超滤组 (MUF组 )。观察术中库血用量、血浆用量、血球压积的变化及术后2 4h出血量 ,并用SSPS/PC进行统计学处理。结果　MUF组库血用量、血浆用量、术后 2 4h出血量显著低于对照组和CUF组 (P <0 0 1) ,且滤出水量明显多于CUF组 (P <0 0 1)。结论　在婴幼儿心血管手术中 ,改良超滤可有效排出体内水分 ,提高血球压积 ,明显减少输血及术后出血 ,是节约用血的重要手段之一。     

Mirizzi综合征的影像学诊断

目的:探讨Mirizzi综合征的发病机理、临床表现、影像学诊断及术前诊断的重要价值.方法:查阅了大量的相关资料文献,进行对比、分析、总结归纳.结果:Mirizzi综合征是胆道系统感染的一种特殊类型,临床少见,极易造成漏诊和误诊,在术中造成不必要的胆道损伤和胆总管探查,影像学检查在诊断此综合征方面有较多的独特优势.结论:Mirizzi综合征术前可以通过影像学检查尤其是超声检查明确诊断.     

Sideropenic Dysphagia综合征膜性蹼26例分析

目的 :研究SideropenicDysphagla (S -D)综合征膜性蹼产生的机制。方法 :回顾分析S -D综合征2 6例的临床资料。结果 :影像学检查显示膜性蹼在颈段食道前壁呈 2mm深的模样陷凹。血液学检查为缺铁性低血红蛋白性贫血改变。结论 :缺铁性贫血是S -D综合征的原因 ,铁剂治疗有效     

Treatment of gingival lichen with free palatal grafts

BACKGROUND: Recalcitrant gingival erythematous lichen planus/lichenoid lesions comprise a considerable therapeutic problem. The objective of this study was to evaluate the therapeutic effect of grafting keratinized oral palatal mucosa to the sites of gingival lichen. METHODS: In 12 patients 20 grafts were transplanted to buccal gingival lesions. Mean age of the patients was 59.8 +/- 7.1 years (range 46-71 years). The mean observation time was 32 +/- 32.7 months (range 5-97 months). RESULTS: On a 4-point clinical grade scale (0-3), 12 (60%) transplants showed complete healing grade 3, six (30%) grade 2 and two (10%) grade 1. CONCLUSIONS: Using oral mucosal grafts from the palatal mucosa for the treatment of recalcitrant erythematous gingival lichen planus/lichenoid lesions seems to be a promising treatment modality.     

肠易激综合征Manning诊断标准的评价

目的 评价Manning标准诊断肠易激综合征(IBS)的真实性。方法 采用自行设计的调查表对499例对象进行调查。结果 1．随着Manning标准中结合指标数的增多，IBS组与非溃疡性消化不良及溃疡性结肠炎组鉴别的灵敏度及其95％CI明显下降，特异度及其95％CI明显上升，同时阳性预测值、阳性似然比及阴性似然比也明显上升。2．符合Manning标准中二项以上结合指标，IBS组就具有较好与健康对照组鉴别的灵敏度及其95％CI、特异度及其95％CI。结论 Manning标准中需要3项以上结合指标可较好地使IBS与非溃疡性消化不良或溃疡性结肠炎鉴别；2项以上结合指标可较好地使IBS与健康人鉴别。     

Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature

We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome.