转甲蛋白Glu54Lys突变所致家族性淀粉样多发性神经病1例

目的：探讨转甲蛋白Glu54Lys突变引起的家族性淀粉样多发性神经病（FAP）的临床表现和神经病理特点.方法：分析1例Glu54Lys突变所致的FAP患者的临床及腓肠神经病理特点,并与文献所报道的5例病例进行比较分析.结果：转甲蛋白Glu54Lys突变引起的FAP患者起病年龄为26－33岁,病程3－4年进展,临床表现为多发性感觉运动周围神经病,尤以自主神经症状为突出表现.患者同时可伴有玻璃体混浊和心肌肥厚.结论：转甲蛋白Glu54Lys突变引起的FAP起病早,临床症状严重,预后较差.组织病理和基因检测有助于FAP的诊断.     

临床诊断眼咽远端型肌病1例及文献复习

目的:探讨眼咽远端型肌病(OPDM)的临床表现、肌肉病理和分子遗传学特征.方法:报道1例临床疑似OPDM患者的临床和肌肉病理资料,对患者及其亲属共3名行多聚腺嘌呤结合蛋白核1(pabpnl)基因突变分析,并结合文献报道病例予以比较.结果:患者24岁起病,表现双侧眼外肌麻痹、声音嘶哑.肌肉病理显示个别肌纤维萎缩为主的肌源性损害,pabpnl基因检测无异常GCG重复序列扩增.结论:OPDM起病早,早期仅表现眼外肌及咽喉肌群麻痹,pabpnl基因GCG重复序列无异常扩增.     

The impact of inflammation on bone mass in children

Bone is a dynamic tissue. Skeletal bone integrity is maintained through bone modeling and remodeling. The mechanisms underlying this bone mass regulation are complex and interrelated. An imbalance in the regulation of bone remodeling through bone resorption and bone formation results in bone loss. Chronic inflammation influences bone mass regulation. Inflammation-related bone disorders share many common mechanisms of bone loss. These mechanisms are ultimately mediated through the uncoupling of bone remodeling. Cachexia, physical inactivity, pro-inflammatory cytokines, as well as iatrogenic factors related to effects of immunosuppression are some of the common mechanisms. Recently, cytokine signaling through the central nervous system has been investigated for its potential role in bone mass dysregulation in inflammatory conditions. Growing research on the molecular mechanisms involved in inflammation-induced bone loss may lead to more selective therapeutic targeting of these pathological signaling pathways.     

McArdle病的诊断

目前已知的糖原累积病至少可分为16种类型,McArdle病(肌肉磷酸化酶缺乏症)为少数仅影响肌肉的糖原累积病,有其特征性的临床表现。前臂缺血试验有较高的敏感性和特异性,但明确诊断还需酶学的生化检查。基因学的检测有利于对该病进一步的认识。     

Bile salts induce resistance to apoptosis through NF-kappaB-mediated XIAP expression

Apoptosis plays a critical role in intestinal mucosal homeostasis. We previously showed that the bile salt taurodeoxycholate has a beneficial effect on the intestinal mucosa through an increase in resistance to apoptosis mediated by nuclear factor (NF)-kappaB. The current study further characterizes the effect of bile salts on intestinal epithelial cell susceptibility to apoptosis and determines if the X-linked inhibitor of apoptosis protein (XIAP) regulates bile salt-induced resistance to apoptosis. Exposure of normal intestinal epithelial cells (IEC-6) to the conjugated bile salts taurodeoxycholate (TDCA) and taurochenodeoxycholate (TCDCA) resulted in an increase in resistance to tumor necrosis factor (TNF)-alpha and cycloheximide (CHX)-induced apoptosis, and NF-kappaB activation. Treatment with TDCA and TCDCA resulted in an increase in XIAP expression. Specific inhibition of NF-kappaB by infection with an adenoviral vector that expresses the IkappaBalpha super-repressor (IkappaBSR) prevented the induction of XIAP expression and the bile salt-mediated resistance to apoptosis. Treatment with the specific XIAP inhibitor Smac also overcame this increase in enterocyte resistance to apoptosis. Bile salts inhibited formation of the active caspase-3 from its precursor procaspase-3. Smac prevented the inhibitory effect of bile salts on caspase-3 activation. These results indicate that bile salts increase intestinal epithelial cell resistance to apoptosis through NF-kappaB-mediated XIAP expression. Bile salt-induced XIAP mediates resistance to TNF-alpha/CHX-induced apoptosis, at least partially, through inhibition of caspase-3 activity. These data support an important beneficial role of bile salts in regulation of mucosal integrity. Decreased enterocyte exposure to luminal bile salts, as occurs during starvation and parenteral nutrition, may have a detrimental effect on mucosal integrity.     

Cyclin E表达失调导致人类结肠癌染色体不稳定

目的:研究Cyclin E的表达失调对人类结肠癌细胞系DLD1染色体稳定性的影响．方法:建立四环素调控的Cyclin E稳定表达的细胞系DLD1tTA—Cyclin E．Western blot检测Cyclin E表达．Cyclin E持续稳定表达1,3,5,7和14 d后,对细胞进行DAPI染色,在荧光显微镜下计数CIN细胞的百分比．结果:Western blot显示,Cyclin E表达在96 h后达最高峰．Cyclin E表达关闭的DLD1细胞中．CIN细胞的百分比波动在0．97％-1．22％之间(t =3．81,P>0．01);而Cyclin E持续表达1,3,5,7和14 d后的DLD1细胞中,CTN细胞的百分比分别为2．41％,3．63％,3．92％,6．17％和8．34％(t= 4．77,P<0．01)．结论:Cyclin E的表达失调可导致DLD1结肠癌细胞非整倍体数染色体的形成,也是造成结肠癌CIN的重要因素．     

尘螨变应原疫苗治疗变应性鼻炎的临床观察

常年性变应性鼻炎是特应性个体接触致敏原后由IgE介导的以介质释放为开端的，有多种免疫活性细胞和细胞因子等参与的鼻黏膜慢性炎症反应性疾病。变应性鼻炎的免疫治疗是世界卫生组织推荐使用的惟一对因治疗的手段。尘螨是一种世界性的过敏原，在我国也是引起变应性鼻炎发作的主要致敏原之一。2004年10月至2006年2月，在我院确诊为常年性变应性鼻炎患者应用螨变应原疫苗——阿罗格（Allergovit）进行免疫治疗，观察1年后临床症状、体征、血清细胞因子（白介素4、5）的变化，以了解其治疗效果。现报告如下。     

Regulation of tight junction proteins and bladder epithelial paracellular permeability by an antiproliferative factor from patients with interstitial cystitis

PURPOSE: Previous reports have suggested that the bladder epithelial barrier may be compromised in interstitial cystitis (IC). Antiproliferative factor (APF) is a small glycoprotein made specifically by bladder epithelial cells in patients with IC that induces changes in expression of certain epithelial cell proteins and profoundly inhibits cell growth. Therefore, we confirmed the increased permeability and decreased tight junction formation of bladder epithelial cell monolayers grown from biopsies in patients with IC compared to cells from normal controls. We then determined the effect of APF on the permeability of normal bladder epithelial cell monolayers and the expression of tight junction proteins. MATERIALS AND METHODS: Permeability was determined by measuring the C-mannitol and H-inulin flux between cells in confluent monolayers on Transwell culture plates (Corning, Corning, New York). Tight junction formation was assessed by immunofluorescence microscopy and the expression of specific proteins was determined by Western blot. RESULTS: APF treatment caused significant increases in the paracellular permeability of normal bladder epithelial cell monolayers and the attenuation of tight junctions compared to mock APF, similar to changes seen in IC cells. APF treatment also decreased expression of the tight junction proteins zonula occludens-1 and occludin. CONCLUSIONS: Because of its apparent effects on bladder epithelial cell tight junctions and paracellular permeability in vitro, APF may contribute to the leakiness of the bladder epithelial barrier seen in IC.     

日本血吸虫病常用诊断方法应用价值的评估Ⅲ Kato-Katz法低估疫区人群血吸虫感染率的分析与评价

目的现场评估KatoKatz法不同检测粪样次数和涂片数的居民血吸虫感染检出率与低估率。方法采用＂3检27片＂Kato-Katz法对鄱阳湖区1个血吸虫病流行村人群进行连续3年的粪检,并以此为金标准,评估不同检测粪样数和Kato-Katz片数的血吸虫感染检出率与低估率。结果血吸虫感染的检出率随粪检Kato片数的增加而增加,低估率则逐渐降低。1检3片Kato-Katz法对人群感染的低估率达40.98%～50.80%,即使增加到6张Kato片,低估率仍为30%左右（25.48%～32.39%）。观察区人群2008-2010年的粪检阳性率分别为10.96%、8.54%和3.73%,各年间差异较大,但各Kato片的低估率接近。1检3片、6片、9片法分别和3检3片、6片、9片法的阳性率之间,2检6片与1检6片、3检6片法的阳性率差异均无统计学意义。结论在相同Kato片检测数下,血吸虫感染者的阳性检出率主要取决于Kato片数而不是粪检次数。在血吸虫病低流行状态下,＂1检3片＂KatoKatz法对血吸虫病疫情的低估率较大。为提高KatoKatz法敏感性,宜首先考虑增加Kato片数而不是粪检次数。     

Clinical and pathological features in 15 Chinese patients with calpainopathy

Background: Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium‐activated, neutral protease (calpain‐3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features. Methods: Sixty‐six muscle biopsies were selected for combined Western blotting of dysferlin and calpain‐3 after immunohistochemical staining. Clinical and pathological parameters of 15 confirmed calpainopathy cases were determined. Results: The diagnosis of calpainopathy in 15 Chinese patients was confirmed by Western blot analysis. Fourteen subjects had progressive proximal muscle weakness; 1 presented with bilateral distal muscle atrophy of the lower extremities. Scapular winging was observed in 12 patients (80%), and joint contractures were found in 10 others (66.7%). Histopathological studies showed a high prevalence of lobulated fibers (66.7%). Conclusions: Chinese patients with calpainopathy share some common clinical and pathological features with the reported characteristics of non‐Chinese patients. Muscle Nerve, 2011