A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene in the elder brother and the increased serum CK before and after discontinuance of the drug on suspicion of drug-induced hepatopathy in the younger sister. We report a novel pair of heterozygous mutations in the 3'-splicing site of exon 26 and the translation site of exon 28 of the dysferlin gene in two siblings, and effective treatment of their MM with dantrolene.     

生态免疫肠内营养保护肠屏障功能的研究

目的探讨生态免疫肠内营养对全身炎症反应综合征(SIRS)大鼠肠屏障功能的保护作用。方法通过尾静脉注射脂多糖(LPS)建立SIRS大鼠模型,60只雄性SD大鼠随机分为4组(标准营养组、免疫增强组、生态营养组、生态免疫组),分别给予不同构成的肠内营养剂7d,观察各组大鼠血浆D-乳酸、二胺氧化酶(DAO)以及尿乳果糖/甘露醇(L/M)比值的动态变化。结果治疗7d后,生态营养组大鼠血浆D-乳酸水平明显低于标准营养组和免疫增强组(P<0.05),但这3组均高于生态免疫组3倍或以上(P<0.01)。血浆DAO水平标准营养组显著高于其他3组(P<0.01)。注射LPS后第1天起,各组大鼠尿液L/M比值均有大幅升高,至第6天回落到注射前水平。第1天时生态免疫组尿L/M比值低于其他3组(P<0.05),第3天时标准营养组尿L/M比值显著高于另外3组(P<0.01),至第6天各组已无明显差异。结论联合应用免疫增强营养素和生态制剂的生态免疫肠内营养能更有效地保护肠屏障功能。     

Anti-inflammatory effects of hydroalcoholic extract and two biflavonoids from Garcinia gardneriana leaves in mouse paw oedema

Garcinia gardneriana (Planch. & Triana) Zappi (Clusiaceae) is widely distributed in Brazil and used in folk medicine to treat inflammation, pain, and urinary tract and other infections. However, very few studies have analyzed these therapeutic effects. In this study, the anti-inflammatory effects of the hydroalcoholic extracts from Garcinia gardneriana (HEGG) and some of its isolated biflavonoids were evaluated. The results showed that HEGG from the leaves, bark and seeds reduced carrageenan-induced mouse paw inflammation, in addition to diminishing the myeloperoxidase activity in the stimulated tissues. The reduction of neutrophil infiltration by treatment with the HEGG from leaves was confirmed by histology. The leaf extract also reduced the paw oedema evoked by bradykinin, histamine, prostaglandin E2 and 12-O-tetradecanoylphorbol acetate. However, it partially decreased substance P and compound 48/80-caused paw oedema, without any influence on the arachidonic acid-induced oedema. Both of the isolated compounds, fukugetin and GB-2a, prevented the carrageenan-induced paw oedema. In conclusion, this study showed important anti-inflammatory effects of HEGG through its interaction with different intracellular signaling pathways, without interfering with the formation of arachidonic acid (AA) metabolites. These characteristics, in addition to the wide distribution and culturing ease of the plant, confirm its popular use and highlight its promise in the development of new anti-inflammatory drugs.     

急性脑梗死诱发全身炎症反应综合征致多器官功能障碍综合征的临床研究

目的　探讨急性脑梗死 (ACI)诱发全身炎症反应综合征 (SIRS)致多器官功能障碍综合征(MODS)的发病机制 ,以及血清肿瘤坏死因子 (TNF α)、白细胞介素 (IL 1) β含量变化在ACI诱发SIRS发生、发展并向MODS转化的临床意义。方法　 6 8例ACI患者根据病情变化分为 3组 ,其中单纯性ACI(SACI组 ) 36例 ,ACI致SIRS(SIRS组 ) 32例 ,ACI致SIRS后发展为MODS(MODS组 ) 2 4例 ;应用酶联免疫吸附法 (ELISA法 )分别测定患者不同病程中血清TNF α、IL 1β值 ,并与对照组 (为 2 8名同期健康体检者 )比较。 结果　 (1) 6 8例ACI中 4 7.0 6 %发生SIRS;SIRS时 75 %发生MODS。 (2 )血清TNF α、IL 1β的含量MODS 组 >SIRS组 >SACI组 >对照组 ,各组间比较 ,差异具有极显著性 (均P <0 0 1)。MODS重症者 (积分≥ 9分 )血清TNF α、IL 1β含量高于轻症者 (积分 <9分 ) (均P <0 0 1) ;MODS死亡者血清TNF α、IL 1β含量高于存活者 (均 P <0 0 1)。结论　 (1)ACI后出现SIRS可导致MODS的发生。 (2 )患者血清TNF α、IL 1β水平异常变化可作为判断ACI致SIRS、MODS病情进展、预后及转归的一项指标     

33例肝占位性病变MRI误诊的分析

我院１９８８年以来４０００余例腹部ＭＲＩ中，发现肝占位性病变误诊３３例。所用机型为美国Ｄｉｓｏｎｉｃｓ公司０．５Ｔ超导ＭＲＩ，自旋回波序列（ＳＥ序列）、常规Ｔ１加权（Ｔ１ＷＩ）、质子加权（ＰＤＷＩ）、Ｔ２加权（Ｔ２ＷＩ），覆盖全肝。其中，ＰＨＣ误诊为ＭＨＣ５例、ＭＨＣ误诊为ＰＨＣ６例、ＰＨＣ误为ＨＨＥ５例、ＭＨＣ误诊为ＨＨＥ２例、ＨＨＥ误诊为ＰＨＣ６例、肝硬化结节误诊为ＰＨＣ２例、炎性假瘤误诊为ＰＨＣ３例、肝结核误诊为ＰＨＣ１例、ＨＣＹ误诊为ＨＨＥ３例。本文从病变的影像学特征和扫描技术方面详细探讨了误诊的原因和鉴别诊断要点。     

Proximal myotonic myopathy

Three Swedish patients with proximal muscle weakness, myotonia and lack of CTG expansion on genetical analysis are presented. Clinical neurological and neurophysiological examination and muscle biopsy were performed. There was an indication of autosomal dominant inheritance in 2 of the 3 patients. The main symptoms and clinical findings in the 3 patients were weakness of the proximal muscles, myotonia, muscle stiffness, muscle pain and muscle atrophy. Neurophysiological examination showed myotonic bursts and muscle biopsy snowed a variation of fibre sizes, an increased number of muscle fibres with centralized nuclei and scattered atrophic muscle fibres. Laboratory data showed elevated CK, GT and LD in 1 patient. Before genetical analysis was performed, all 3 patients had been diagnosed as atypical cases of myotonic dystrophy. However, the symptoms, clinical signs, laboratory data, electrophysiological and muscle biopsy findings were compatible with proximal myotonic myopathy (PROMM).     

A retrospective study of patients with the hereditary syndrome of congenital cataract,mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

The objectives of this study were to describe the course of two forms of an hereditary syndrome characterised by congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. We also sought to determine clinical, physicochemical and histopathological data which might allow early distinction between the two forms. We compared the ages at which clinical and physicochemical signs appeared in 16 patients. In 5 patients, enzyme-histochemical and ultrastructural data of skeletal muscle were available and muscle fibre composition analysed morphometrically. In any particular family only one form of the syndrome occurred. Amongst the patients who did not survive (range 14–34 years) 4 patients died in the neonatal period and 7 died at a median age of 23 years. The median age of the survivors was 19 years (range 15–42 years). Outflow obstruction of the left ventricle was noted in four deceased patients at variable times prior to death. The other deceased patients were not examined, but the cause of death was invariably heart failure. In none of the surviving patients was outflow obstruction noted. Enzyme-histochemical and ultrastructural findings were not specific for the course of the disease. In one biopsy, taken at the age of 3.5 months from a patient who survived, strong lipid accumulation was noted. Morphometric analysis showed proliferation of the mitochondria in muscle fibres, which increased during the course of the disease.     

Uveal effusion syndrome complicated by anterior ischemic optic neuropathy

We report on a case of idiopathic uveal effusion syndrome complicated by AION. To our knowledge such an association hasn't been previously described. We suggest that scleral thickening caused obstruction of vortex veins followed by uveal effusion and compression of posterior ciliary arteries within their intrascleral tract, leading to AION. Nevertheless it can't be excluded that AION was the result of mechanical compression on ciliary vessels of optic disc by choroidal detachment.     

慢性炎性脱髓鞘性多发性神经根神经病（附6例报告）

慢性炎性脱髓鞘性多发性神经根神经病(CIDP)是一种周围神经疾病。其临床特征是；(1)近端和远端肢体无力．腱反射减弱或消失：(2)脑脊液蛋白细胞分离；(3)神经传导速度减慢；(4)呈持续进展或缓解一复发病程。本文报告6例CIDP．均符合Dyck的有关诊断标准。结合文献对CIDP的临床表现、诊断、治疗和预后进行了讨论。     

核因子kappa B与体外循环相关性的研究进展

核因子kappa B(NF—κB)是许多促炎因子高表达所必需的转录因子。近年来，随着分子生物学技术的发展，NF—κB对免疫、应激和炎症反应以及淋巴细胞分化和生长的调控作用成为研究的热点。作者就NF—κB在缺血-再灌注及体外循环损伤机制中的作用作一综述，并简要介绍阻断NF-κB激活干预治疗的研究进展。