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Immunodeficiency, Gastrointestinal Candidiasis, Wheat and Dairy Sensitivity, Abnormal Urine Arabinose, and Autism: A Case Study 免疫缺陷,胃肠道念珠菌病,小麦和乳制品敏感性,异常尿阿拉伯糖和自闭症:一个案例研究
Pub Date : 2010-01-31 DOI: 10.7156/V3I1P001
W. Shaw, J. Baptist, D. Geenens
A child with autism was found to have complete IgA deficiency (serum IgA <6 mg/dL; normal 33-235 mg/dL), Candidiasis of the gastrointestinal tract based on evaluation of stool testing and elevated urine arabinose, and elevated serum antibodies to wheat and dairy products. The pretreatment urinary arabinose concentration (341 mmol/mol creatinine in this child was nearly six times the mean value (60.4 mmol/mol creatinine, n=20) of normal children and over ten times the median value (31.0 mmol/mol creatinine) of normal controls. After antifungal therapy for four months, the urine was retested. At that time the urine arabinose was measured at 51 mmol/mol creatinine, a value only 15% of the baseline sample. Restriction of wheat and dairy products from the diet and antifungal therapy led to a significant decrease in autistic behaviors and increased rate of learning. The Childhood Autism Rating Scale (CARS), an observational measure of various aspects of autism, for the child has decreased from a rating of 43 (severely autistic) prior to introduction of these therapies to a value of 29 (nonautistic) after therapy.
一个自闭症儿童被发现有完全的IgA缺乏症(血清IgA <6 mg/dL;正常33-235 mg/dL),胃肠道念珠菌病(基于粪便测试和尿阿拉伯糖升高的评估,以及对小麦和乳制品的血清抗体升高)。预处理尿阿拉伯糖浓度(341 mmol/mol肌酐)是正常儿童平均值(60.4 mmol/mol肌酐,n=20)的近6倍,是正常对照中值(31.0 mmol/mol肌酐)的10倍以上。抗真菌治疗4个月后,重新检测尿液。当时尿阿拉伯糖测定值为51 mmol/mol肌酐,仅为基线样本的15%。从饮食中限制小麦和奶制品和抗真菌治疗导致自闭症行为的显著减少和学习速度的提高。儿童自闭症评定量表(CARS)是对自闭症各个方面的观察性测量,该儿童的评分从引入这些治疗之前的43分(严重自闭症)下降到治疗后的29分(非自闭症)。
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引用次数: 3
WRN protein and Werner syndrome. WRN蛋白与Werner综合征。
Pub Date : 2010-01-01 DOI: 10.7156/v3i4p205
Jianyuan Luo

Werner syndrome is an autosomal recessive disorder associated with premature aging and cancer predisposition. Cells from Werner syndrome patients show increased genomic instability and are hypersensitive to DNA damage agents. Werner syndrome is caused by mutations of the WRN gene. WRN protein is a member of RecQ DNA helicase family. It not only contains a conserved 3'-5' helicase domain as other members of the RecQ family but also contains a unique 3'-5' exonuclease domain. WRN recognizes specific DNA structures as substrates which are intermediates of DNA metabolism. WRN interacts with many other proteins, which function in telomere maintenance, DNA replication, and DNA repair through different pathways.

沃纳综合征是一种常染色体隐性遗传病,与早衰和癌症易感性相关。来自维尔纳综合征患者的细胞表现出增加的基因组不稳定性,并且对DNA损伤剂极度敏感。Werner综合征是由WRN基因突变引起的。WRN蛋白是RecQ DNA解旋酶家族的成员。它不仅像RecQ家族的其他成员一样包含一个保守的3'-5'解旋酶结构域,而且包含一个独特的3'-5'外切酶结构域。WRN识别特定的DNA结构作为底物,是DNA代谢的中间体。WRN与许多其他蛋白质相互作用,这些蛋白质通过不同的途径在端粒维持、DNA复制和DNA修复中发挥作用。
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引用次数: 7
Helping Mother Die 帮助母亲死去
Pub Date : 2010-01-01 DOI: 10.7156/v3i1p039
P. Triffletti
There are days you will always remember. December 5, 2009 my mother called and told me her friends commented she looked sick. She was jaundiced. I had just seen her on Thanksgiving and she seemed to be herself. She ate the Thanksgiving meal and appeared to have her usual appetite. She also had enjoyed one of our favorite family pastimes with her grandchildren, playing the card game whist. There was a cacophony of laughter coming from the dining room that night for hours as she masterfully played her high bids to victory. During November she was still doing all of her usual  activities: line dancing and playing cards at the local senior centers, bowling, ballroom dancing, and singing in the church choir.  That is why the phone call that night was somewhat surprising. She had been calling me in the past month with some non specific gastrointestinal complaints that she attributed to her metformin medication. After she consulted with her doctors, she was feeling improved without the medication during the past 2 weeks. Painless jaundice, though, made me very suspicious that she had a serious problem. My instincts would be proven correct.
有些日子你会永远记得。2009年12月5日,我妈妈打电话给我,告诉我她的朋友说她看起来病了。她得了黄疸病。我刚刚在感恩节见到她,她看起来很正常。她吃完感恩节大餐,似乎又恢复了往常的食欲。她还喜欢和她的孙子们一起玩惠斯特纸牌游戏,这是我们最喜欢的家庭娱乐之一。那天晚上,餐厅里传来一阵刺耳的笑声,持续了好几个小时,因为她娴熟地打出了她的高出价。11月期间,她还在做她所有的日常活动:在当地老年中心跳排舞和打牌,打保龄球,跳交际舞,在教堂唱诗班唱歌。这就是为什么那天晚上的电话有些令人惊讶。在过去的一个月里,她一直打电话给我,说她有一些非特异性的胃肠道不适,她认为这是她服用二甲双胍引起的。在咨询医生后,她在过去的两周内没有服药,感觉有所改善。然而,无痛性黄疸使我非常怀疑她有严重的问题。我的直觉将被证明是正确的。
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引用次数: 0
Fasting Triglyceride Concentrations are Associated with Early Mortality Following Antiretroviral Therapy in Zambia. 在赞比亚,空腹甘油三酯浓度与抗逆转录病毒疗法后的早期死亡率有关。
Pub Date : 2010-01-01 DOI: 10.7156/v3i2p079
Julius N Ngu, Douglas C Heimburger, Donna K Arnett, Christopher K Nyirenda, Dara Potter, Isaac Zulu, Claire N Bosire, Shashwatee Bagchi, Jiatao Ye, Benjamin H Chi, Edmond K Kabagambe

BACKGROUND: In developing countries, 8 to 71% of patients initiating highly active antiretroviral therapy (HAART) die within the first year of treatment. Apart from baseline CD4 count, viral load, hemoglobin, BMI and stage of the disease, there may be other variables that contribute to AIDS-related mortality. We investigated the potential role of nutrition, lipids and insulin resistance-related phenotypes in predicting early mortality. METHODS: We recruited 210 HAART-naïve HIV/AIDS patients in Lusaka, Zambia. Dietary intake, anthropometric measurements, fasting serum insulin, glucose, and lipid profiles were assessed at baseline. Mortality was assessed after 90 days of follow-up. We used logistic regression models to identify variables associated with mortality. RESULTS: The mean±SD for age, BMI and CD4 count at baseline were 34±7.4 y, 20±3 kg/m(2) and 138±52 cells/μL, respectively. Sixteen patients (7.6%) died during follow-up. Triglyceride concentrations were associated with increased mortality [odds ratio (OR) for 1 mmol/L increase in triglyceride concentration=2.51; 95% CI: 1.34-4.71]. This association remained significant (OR=3.24; 95% CI: 1.51-6.95) after adjusting for age, gender, smoking, alcohol use, total cholesterol, BMI, CD4 count and n3 fatty acid intake. Apart from higher n3 fat intake which was inversely associated with mortality (survivors: 1.81±0.99% total energy/day vs. non-survivors 1.28±0.66% energy/day, P=0.04), there were no other macronutrients associated with mortality. CONCLUSION: Triglyceride concentrations at the time of initiating HAART are independently associated with increased risk for early mortality. If this association is confirmed in larger studies, assessment of triglycerides could become part of routine care of HIV patients initiating HAART in developing countries.

背景:在发展中国家,开始接受高效抗逆转录病毒疗法(HAART)的患者中有 8% 至 71% 在治疗第一年内死亡。除了基线 CD4 细胞计数、病毒载量、血红蛋白、体重指数和疾病阶段外,可能还有其他变量会导致艾滋病相关死亡率。我们研究了营养、血脂和胰岛素抵抗相关表型在预测早期死亡率方面的潜在作用。 方法:我们在赞比亚卢萨卡招募了 210 名 HAART 治疗无效的艾滋病毒/艾滋病患者。基线评估包括饮食摄入、人体测量、空腹血清胰岛素、葡萄糖和血脂概况。随访 90 天后对死亡率进行了评估。我们使用逻辑回归模型来确定与死亡率相关的变量。 结果:基线年龄、体重指数和 CD4 细胞数的平均值(±SD)分别为 34±7.4 y、20±3 kg/m(2) 和 138±52 cells/μL。16名患者(7.6%)在随访期间死亡。甘油三酯浓度与死亡率增加有关[甘油三酯浓度增加 1 mmol/L 的几率比(OR)=2.51;95% CI:1.34-4.71]。在对年龄、性别、吸烟、饮酒、总胆固醇、体重指数、CD4 细胞数和 n3 脂肪酸摄入量进行调整后,这种相关性仍然很明显(OR=3.24;95% CI:1.51-6.95)。除了较高的 n3 脂肪摄入量与死亡率成反比外(幸存者:1.81±0.99% 总能量/天 vs. 非幸存者 1.28±0.66% 能量/天,P=0.04),其他宏量营养素均与死亡率无关。 结论:开始接受 HAART 治疗时的甘油三酯浓度与早期死亡风险增加有独立关联。如果这种关联在更大规模的研究中得到证实,那么对甘油三酯的评估可能会成为发展中国家开始接受 HAART 治疗的 HIV 患者常规护理的一部分。
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引用次数: 0
A Giant Atypical Neurofibroma in the Right Thoracic Cavity of a 57-Year-Old Man: A Case Report with Review of the Literature 57岁男性右胸腔巨大非典型神经纤维瘤1例并文献复习
Pub Date : 2009-10-31 DOI: 10.7156/V2I4P135
Rongjun Guo, Frank Chen, R. Heffner
Intrathoracic neurogenic tumors are not uncommon, but presentation as a giant mass in the thoracic cavity is rare. Although several cases of intrathoracic giant malignant peripheral nerve sheath tumor have been reported, only one case of intrathoracic giant benign neurofibroma appears in the literature. In this report, we describe a very rare case of atypical giant neurofibroma in the right thoracic cavity. The patient was a 57 year old African American man, who developed sudden cardiac arrest and passed away in the emergency room. At autopsy, a huge encapsulated firm tumor was found in the right thoracic cavity, attached to the vertebral bodies and superficially adherent to the upper and middle lobes of the right lung. This giant mass weighed 2140 grams and measured 31 x 30 x 5.5 cm. Microscopically, the tumor consisted of interweaving fascicles of spindle cells with scattered atypical nuclei. Immunohistochemical studies showed that tumor cells were focally positive for S100, and negative for SMA, desmin, calretinin, Pan CK, CK5/6, EMA, CD99, CD34 and p53. The overall morphological and immunohistochemical features were diagnostic of an atypical neurofibroma. [N A J Med Sci. 2009;2(4):135-138.]
胸内神经源性肿瘤并不罕见,但在胸腔内表现为巨大肿块是罕见的。虽然有几例胸内巨大恶性周围神经鞘瘤的报道,但文献中只报道了一例胸内巨大良性神经纤维瘤。在此报告中,我们描述了一例非常罕见的右胸腔非典型巨大神经纤维瘤。患者是一名57岁的非裔美国人,他突发心脏骤停,在急诊室去世。尸检发现右胸腔内有一巨大的包裹性硬瘤,附着于椎体,浅表贴附于右肺上叶和中叶。这个庞然大物重达2140克,尺寸为31 x 30 x 5.5厘米。镜下,肿瘤由纺锤形细胞交织成束状,分散有非典型细胞核。免疫组化研究显示肿瘤细胞局灶性S100阳性,SMA、desmin、calretinin、Pan CK、CK5/6、EMA、CD99、CD34和p53阴性。整体形态学和免疫组织化学特征是非典型神经纤维瘤的诊断。[J] .中华医学杂志,2009;2(4):135-138。
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引用次数: 2
Amplification of Complete HIV-1 Envelope Genes from Purified CD4+ T Cell Populations 纯化CD4+ T细胞群中HIV-1包膜基因的扩增
Pub Date : 2009-10-31 DOI: 10.7156/V2I4P123
Y. Jiao, Juan Li, Wei Hua, Yanqing Gao, Tong Zhang, Hao Wu
Polymerase chain reaction (PCR) amplification of full-length HIV-1 envelope genes directly from uncultured clinical samples or from plasma of HIV patients using RT-PCR or from peripheral blood mononuclear cells (PBMC) DNA extracts of HIV patients is difficult. As HIV mainly infected CD4 positive cells, this paper first describes a sensitive method for the amplification of full-length HIV-1 envelope genes from purified CD4+ cells, and compares this method with other, less effective, procedures. This method were suitable for amplification of HIV-1 envelope genes directly from clinical samples especially from those of low viral load.
用RT-PCR直接从未培养的临床样本或HIV患者血浆或HIV患者外周血单个核细胞(PBMC) DNA提取物中扩增全长HIV-1包膜基因是困难的。由于HIV主要感染CD4阳性细胞,本文首先描述了一种从纯化的CD4+细胞中扩增全长HIV-1包膜基因的灵敏方法,并与其他效率较低的方法进行了比较。该方法适用于直接从临床样品中扩增HIV-1包膜基因,特别是从低病毒载量的样品中。
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引用次数: 0
Brief Communication: Erythema Migrans in Lyme Disease 简要交流:莱姆病的移行性红斑
Pub Date : 2009-10-31 DOI: 10.7156/V2I4P130
Grace Perez-Lirio
JD is a 44 year old White male who was seen in urgent care because of painful swelling behind his left knee for 2 days. He described the area as red and itchy for which he applied aquaphor. He had no history of insect bites or trauma and had no associated symptoms like fatigue, fever, chills, headache, dizziness, rhinorrhea, sore throat, cough, shortness of breath, abdominal pain, nausea, vomiting, muscle aches or joint aches. He had an uncomplicated vasectomy 1 week prior and otherwise had no health issues. His family history was unremarkable. He was not on any medications, both prescribed and over the counter. He never smoked or used illicit drugs. He consumed a drink or two of beer a week. He is married with 2 children, lives in a western suburb ofMassachusetts. He works as a software engineer and is otherwise very active. He is a volunteer for his son’s boys scout troop and just came from outdoor camping inNew Hampshire....
JD是一名44岁的白人男性,因左膝后疼痛肿胀2天而被送往紧急护理中心。他形容这个地方又红又痒,他用了一种比喻。患者无虫咬史或外伤史,无疲劳、发热、寒战、头痛、头晕、鼻漏、喉咙痛、咳嗽、呼吸急促、腹痛、恶心、呕吐、肌肉痛或关节痛等相关症状。他在一周前做了一个简单的输精管结扎手术,除此之外没有任何健康问题。他的家族史平平无奇。他没有服用任何药物,无论是处方药还是非处方药。他从不吸烟或使用违禁药物。他每周喝一两杯啤酒。他已婚,有两个孩子,住在马萨诸塞州的西郊。他是一名软件工程师,在其他方面非常活跃。他是他儿子童子军的志愿者,刚从新罕布什尔州的户外露营回来....
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引用次数: 0
Quality Control of Chinese Medicine Based on Technology Innovation 基于技术创新的中药质量控制
Pub Date : 2009-10-31 DOI: 10.7156/V2I4P152
J. Wan, S. Li, Yi-Tao Wang, Jing Liu, J. Kang
With the aim to promote the establishment of international standardization of Chinese medicine (CM), the key scientific techniques, including the selection of the markers, preparation of reference chemical compounds, and the optimization of evaluation methods for standardization of quality control of CM, were discussed and explored in the present paper. A systematic strategy was used to develop the quality control of several CMs attributed to “Huo xue hua yu” and “Fu zheng gu ben”. The key techniques and approaches being used included computational clustering analysis of chromatographic data, biochromatographic technique for identification of biological active compound, the combination of different separation techniques for preparation of reference compound, the application of Pressurized Liquid Extraction (PLE) technique for raw herbal sample preparation, and the optimization of quality control analytical techniques. The results showed that the strategy is feasible for the quality control of CM.
为了促进中药国际标准化的建立,本文对中药标准化质量控制的关键科学技术,包括标记物的选择、标准化合物的制备、评价方法的优化等进行了探讨和探讨。采用系统的策略,对“活血花玉”和“扶正谷本”几种中药进行了质量控制。采用的关键技术和方法包括色谱数据的计算聚类分析、生物色谱技术鉴定生物活性化合物、不同分离技术的组合制备标准化合物、加压液体萃取(PLE)技术在药材原料药样品制备中的应用以及质量控制分析技术的优化。结果表明,该策略对中药质量控制是可行的。
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引用次数: 0
Brief Communication: Perinatal Transmission of Hepatitis B and Prevention Strategy 简讯:乙型肝炎围产期传播及预防策略
Pub Date : 2009-10-31 DOI: 10.7156/V2I4P127
Mph Daryl T.-Y. Lau, S. Holder
Hepatitis B is a disease of global significance.  The World Health Organization (WHO) estimates that this virus currently infects 350 million people worldwide, and over three quarters of those affected are of Asian ethnicity. 1 Hepatitis B is an important cause of progressive liver failure or liver cancer, complications that kill approximately 1 million people globally.  In endemic regions such as Asia and Africa, HBV infection is often acquired early in life, either vertically from perinatal transmission or horizontally from contact with other infected individuals. 2 In Asia, perinatal transmissions account for at least 25% of chronic hepatitis B; moreover, the transmission rates can increase to about 90% for mothers with high serum HBV DNA titers. 2 Since HBeAg positive chronic hepatitis B is associated with higher levels of HBV replication, the perinatal transmission rates were as high as 80-90% among HBeAg-positive women compared to 10-20% among HBeAg-negative women. 3 Universal screening of all pregnant women during their pregnancy is essential to identify the ones with the highest risk of transmitting HBV to their infants.
乙型肝炎是一种全球性疾病。世界卫生组织(世卫组织)估计,目前全世界有3.5亿人感染这种病毒,其中四分之三以上是亚洲人。1乙型肝炎是导致进行性肝功能衰竭或肝癌的重要原因,这两种并发症导致全球约100万人死亡。在亚洲和非洲等流行区域,乙型肝炎病毒感染通常是在生命早期获得的,要么是通过围产期垂直传播,要么是通过与其他感染者接触水平感染。在亚洲,围产期传播至少占慢性乙型肝炎的25%;此外,对于血清HBV DNA滴度高的母亲,传播率可增加到90%左右。由于HBeAg阳性的慢性乙型肝炎与较高水平的HBV复制相关,在HBeAg阳性的妇女中,围产期传播率高达80-90%,而在HBeAg阴性的妇女中,这一比例为10-20%。3 .在所有孕妇怀孕期间进行普遍筛查对于确定将HBV传播给婴儿的风险最高的孕妇至关重要。
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引用次数: 0
Leading Causes of Death for Older Asian Americans 老年亚裔美国人的主要死亡原因
Pub Date : 2009-10-31 DOI: 10.7156/V2I4P156
D. Huo, D. Lauderdale
Asian Americans are the fastest growing population in US, but data describing their disease burden are limited. For most US health statistics, Asian Americans are grouped into a single race category. We use a unique data file to identify causes of death for persons aged 65 or older in six Asian American ethnic subgroups (Chinese, Indians, Japanese, Koreans, Filipinos, and Vietnamese). Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD–10) are ranked according to the number of deaths assigned to each cause. There are a total of 76,866 death records included in this study. The 10 leading causes of death account for 85% of all deaths for Asian Americans and the top 3 causes (heart disease, cancer, and stroke) account for 68%. The rankings and relative cause-specific mortalities varied significantly across the six Asian ethnic groups. Indians had the highest relative burden of heart disease (41.6% of all deaths), followed by Filipinos (35.6%), then the other four Asian ethnic groups (~30%). Cancer, the second leading cause of death, accounted for about 26% of all deaths for Chinese, Japanese, Koreans and Vietnamese, 21% for Filipinos and 18% for Indians. Influenza and pneumonia, chronic lower respiratory disease, diabetes, accidents (unintentional injuries), and kidney disease also ranked among the top 10 causes, but the specific ranks vary across ethnic populations. Differences in the ranking are also evident by age and sex. Because of significant heterogeneity among Asian American ethnic groups, it is more informative to calculate ethnicity-specific rankings of causes of death.
亚裔美国人是美国增长最快的人口,但描述他们疾病负担的数据有限。在大多数美国健康统计数据中,亚裔美国人被归为单一种族类别。我们使用一个独特的数据文件来确定六个亚裔美国人亚群(中国人、印度人、日本人、韩国人、菲律宾人和越南人)中65岁或以上的人的死亡原因。《国际疾病分类第十版》(ICD-10)分类的死因是根据每一死因的死亡人数进行排序的。本研究共纳入76866例死亡记录。在亚裔美国人的死亡总数中,前10大死因占85%,前3大死因(心脏病、癌症和中风)占68%。6个亚洲族裔的排名和相对死因死亡率差异很大。印度人的心脏病相对负担最高(占所有死亡人数的41.6%),其次是菲律宾人(35.6%),然后是其他四个亚洲族裔(约30%)。癌症是第二大死因,约占中国人、日本人、韩国人和越南人死亡总数的26%,菲律宾人占21%,印度人占18%。流感和肺炎、慢性下呼吸道疾病、糖尿病、事故(意外伤害)和肾脏疾病也排在前10位,但具体排名因种族而异。年龄和性别在排名上的差异也很明显。由于亚裔美国人族群之间存在显著的异质性,因此计算特定种族的死亡原因排名更能提供信息。
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引用次数: 2
期刊
North American journal of medicine & science
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