Hypertrophy of the inferior olivary nucleus. A clinico-pathological observation

The clinico-pathological findings in a 61-year-old man, who suffered from branchial and skeletal myoclonus, appearing six months after a brainstem infarction are reported. Of all the drugs which are usually thought to be effective in the treatment of myoclonus, only valproic acid brought some relief. The necropsy revealed bilateral hypertrophy of the olives, together with bilateral pontine tegmental and rubral infarctions, without involvement of the olivary pathway.     

Circulating intercellular adhesion molecule-1 and E-selectin in acute ischemic stroke.

Exposure of endothelia to hypoxia followed by reperfusion, results in increased leukocyte activation and extravasation. These leukocytes potentiate ischemic neuronal damage. Extravasation of leukocytes is guided by adhesion molecule interactions on inflammatory and endothelial cells. Circulating adhesion molecules rapidly appear in peripheral blood. Commercially available ELISA kits were used to determine serum levels of E-selectin and intercellular adhesion molecule-1 (ICAM-1) in 36 patients at 1, 3, and 14 days after acute ischemic stroke. E-selectin levels were nonsignificantly increased at day 1, and decreased thereafter, reaching significantly lower values at day 14 in the stroke patients. ICAM-1 levels were similar in stroke patients at each sampling period, and did not differ from those of controls. Our data on ICAM-1 are in line with those of a recently published study. The decreasing circulating E-selectin may stem from endothelial cell damage, alterations in cytokine interactions, or unknown factors.     

Carpal tunnel syndrome: role of carpal canal size

Carpal canal size was examined as a risk factor associated with carpal tunnel syndrome in the workplace. Seven of 14 electricians had symptomatic carpal tunnel syndrome. On measuring cross-sectional areas by CT, affected workers had a cross-sectional area of 1.75 +/- 0.21 cm2; control values were 2.53 +/- 0.15 cm2 (p less than 0.05). Individuals with a subclinical syndrome had an area of 1.83 +/- 0.22 cm2, similar to the symptomatic group. Wrist circumference was not a predictor of smallest carpal canal area. Unusual bony and soft tissue structures within the carpal canal were easily identified with CT.     

Influence of bacterial cell concentration and inorganic anions on lysis of Streptococcus mutans BHT by salivary lysozyme

The aim of this work was to study the influence of bacterial cell concentrations and inorganic anions on lysis of Streptococcus mutans BHT by human salivary lysozyme (HSL). HSL was partly purified from saliva by ion exchange chromatography. The bacteria were grown in a synthetic medium containing ³H-thymidine to monitor DNA release. The experiments demonstrated that release ³H-thymidine was dependent on the bacterial cell concentration and an apparent K_m-value corresponding to approximately 2.9 × 10⁸ cells/ml was calculated. The influence of I^?, Br^?, Cl^?, F^?, HCO₃^? and SCN^? on bacteriolysis was studied. All anions tested were slightly inhibitory on the action of HSL. The inhibition varied from 7 to 76% depending on the ion and ionic strength. The order of addition of HSL and sodium chloride caused different lytic responses. This was reflected by the amount of HSL adsorbed by the bacteria.     

Sequence, haplotype, and association analysis of ADRbeta2 in a multiethnic asthma case-control study

RATIONALE: The comprehensive evaluation of gene variation, haplotype structure, and linkage disequilibrium is important in understanding the function of beta2-adrenergic receptor gene (ADRbeta2) on disease susceptibility, pulmonary function, and therapeutic responses in different ethnic groups with asthma. OBJECTIVES: To identify ADRbeta2 polymorphisms and haplotype structure in white and African American subjects and to test for genotype and haplotype association with asthma phenotypes. METHODS: A 5.3-kb region of ADRbeta2 was resequenced in 669 individuals from 429 whites and 240 African Americans. A total of 12 polymorphisms, representing an optimal haplotype tagging set, were genotyped in whites (338 patients and 326 control subjects) and African Americans (222 patients and 299 control subjects). RESULTS: A total of 49 polymorphisms were identified, 21 of which are novel; 31 polymorphisms (frequency > 0.03) were used to identify 24 haplotypes (frequency > 0.01) and assess linkage disequilibrium. Association with ratio (FEV1/FVC)2 for single-nucleotide polymorphism +79 (p < 0.05) was observed in African Americans. Significant haplotype association for (FEV1/FVC)2 was also observed in African Americans. CONCLUSIONS: There are additional genetic variants besides +46 (Gly16Arg) that are important in determining asthma phenotypes. These data suggest that the length of a poly-C repeat (+1269) in the 3' untranslated region of ADRbeta2 may influence lung function, and may be important in delineating variation in beta-agonist responses, especially in African Americans.     

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

Malik S, Kakar N, Hasnain S, Ahmad J, Wilcox ER, Naz S. Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF6 mutations in 12 of 16 unrelated families segregating VWS from Pakistan. The three newly identified mutations include a frameshift (c.568delG) and two missense mutations c.295G>A (p.G99S) and c.1219T>C (p.S407P). Recent functional studies on IRF6 and the three‐dimensional structure of IRF5 carboxy (C) terminus, a protein encoded by a paralog of IRF6, shed light on the p.S407P substitution. Additionally, the identification of the same mutations responsible for VWS in Pakistan, as reported in other global populations worldwide, marks these residues as mutational hotspots and indicates their essential role in structural stability or function of IRF6. This is the first study of VWS in Pakistan and we estimate that 1 in 100 patients with CL with or without CP (CL/P) are affected in the Pakistani population predominantly from the Punjab area.     

横断面调查在抗菌药物管理PDCA中的应用

目的：探讨将横断面调查应用于抗菌药物管理PDCA中的成效。方法：通过2012年连续4次横断面调查收集资料,应用于抗菌药物管理PDCA循环的计划与检查环节。结果：调查的8项指标中6项有显著改善（P〈0．01）,其余两项无显著改善（P〉0．05）。结论：将横断面调查应用于抗菌药物管理PDCA的各个环节,能改善抗菌药物临床合理应用状况,是提高抗菌药物管理质量行之有效的方法。