A case of mixed connective tissue disease developed into overlap syndrome of progressive systemic sclerosis, systemic lupus erythematosus, polymyositis and Sj?gren's syndrome

We encountered a patient who developed an overlap syndrome of progressive systemic sclerosis (PSS), systemic lupus erythematosus (SLE), polymyositis (PM) and Sj?gren's syndrome (SjS) while we were treating her for mixed connective tissue disease (MCTD). This 42-year-old woman had been photosensitive since 18 years of age. In 1986, Raynaud's phenomenon, swollen hands and arthralgia appeared; therefore, we started to treat this patient based on a diagnosis of MCTD. At that time, her anti-RNP antibody titer was 82,920, but she was negative to anti-Sm antibody. In 1988, she was admitted to our hospital with chief complaints of aggravation of polyarthralgia and myalgia. On physical examination, she showed difficulty in opening her mouth, systemic dermal sclerosis, a decrease in muscular strength and rales. In laboratory tests, her myogenic enzyme level was increased, and she was found to be positive to LE cells, antinuclear antibody, anti-DNA antibody, anti-ENA antibody and anti-SSA antibody. Furthermore, histological features clearly corresponding to those of PSS were found by skin biopsy, myogenic changes by electromyography, evidence of chronic inflammation of the salivary glands by lip biopsy, and proliferative changes in the mesangium were detected by renal biopsy. The concept of MCTD, especially the differences from overlap syndrome, is vague. Therefore we need further study about many cases. Since there have been no reports on cases having sufficient evidence of the development of the overlap syndrome of PSS, SLE, PM and SjS during a course of MCTD, our patient would provide very useful data contributing to the study of MCTD.     

Leiomyosarcoma of the spermatic cord. A case report and a brief review of literature

A case of leiomyosarcoma of the spermatic cord, occurring in a 79-year-old male patient, is reported. The tumor was resected with high inguinal ligation and orchiectomy. It was located at the scrotal part of the spermatic cord on the left side and was shown to have originated from the spermatic duct using the dissecting method. Histologically, it was identical to leiomyosarcoma showing a typical morphological appearance of smooth muscle cell tumor in the conventional histochemical preparations as well as a focal positive reaction to antidesmin antibody, a marked nuclear pleomorphism, and abundant mitotic figures. The patient had been untroubled for six months after the resection of the tumor. Leiomyosarcoma arising in spermatic cord is quite rare.     

Association of defensin beta-1 gene polymorphisms with asthma

BACKGROUND: Defensins are antimicrobial peptides that may take part in airway inflammation and hyperresponsiveness. OBJECTIVE: We characterized the genetic diversity in the defensin beta-1 (DEFB1) locus and tested for an association between common genetic variants and asthma diagnosis. METHODS: To identify single nucleotide polymorphisms (SNPs), we resequenced this gene in 23 self-defined European Americans and 24 African Americans. To test whether DEFB1 genetic variants are associated with asthma, we genotyped 4 haplotype-tag SNPs in 517 asthmatic and 519 control samples from the Nurses' Health Study (NHS) and performed a case-control association analysis. To replicate these findings, we evaluated the DEFB1 polymorphisms in a second cohort from the Childhood Asthma Management Program. RESULTS: Within the NHS, single SNP testing suggested an association between asthma diagnosis and a 5' genomic SNP (g.-1816 T>C; P = .025) and intronic SNP (IVS+692 G>A; P = .054). A significant association between haplotype (Adenine, Cytosine, Thymine, Adenine [ACTA]) and asthma ( P = .024) was also identified. Associations between asthma diagnosis and both DEFB1 polymorphisms were observed in Childhood Asthma Management Program, a second cohort: g.-1816 T>C and IVS+692 G>A demonstrated significant transmission distortion ( P = .05 and .007, respectively). Transmission distortion was not observed in male subjects. The rare alleles (-1816C and +692A) were undertransmitted to offspring with asthma, suggesting a protective effect, contrary to the findings in the NHS cohort. Similar effects were evident at the haplotype level: ACTA was undertransmitted ( P = .04) and was more prominent in female subjects ( P = .007). CONCLUSION: Variation in DEFB1 contributes to asthma diagnosis, with apparent gender-specific effects.     

Allergic conversion of protective mucosal immunity against nasal bacteria in patients with chronic rhinosinusitis with nasal polyposis

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Directed differentiation of telencephalic precursors from embryonic stem cells

We demonstrate directed differentiation of telencephalic precursors from mouse embryonic stem (ES) cells using optimized serum-free suspension culture (SFEB culture). Treatment with Wnt and Nodal antagonists (Dkk1 and LeftyA) during the first 5 d of SFEB culture causes nearly selective neural differentiation in ES cells ( approximately 90%). In the presence of Dkk1, with or without LeftyA, SFEB induces efficient generation ( approximately 35%) of cells expressing telencephalic marker Bf1. Wnt3a treatment during the late culture period increases the pallial telencephalic population (Pax6(+) cells yield up to 75% of Bf1(+) cells), whereas Shh promotes basal telencephalic differentiation (into Nkx2.1(+) and/or Islet1/2(+) cells) at the cost of pallial telencephalic differentiation. Thus, in the absence of caudalizing signals, floating aggregates of ES cells generate naive telencephalic precursors that acquire subregional identities by responding to extracellular patterning signals.     

A study of human interstitial lung diseases with special reference to immune complexes and hyaline membrane

To evaluate the pathogenetic roles of immune complexes and alveolar hyaline membrane in idiopathic interstitial pneumonia (IIP), immunohistological and ultrastructural studies of the kidney and lung were performed in 23 cases of IIP, 19 cases of autoimmune diseases, 17 cases of interstitial pneumonia other than IIP, and 11 cases of bronchopneumonia as a control group. None of the cases of IIP or interstitial pneumonia other than IIP showed immune complexes in the alveolar and glomerular capillary walls. On the other hand, one case of SLE was positive for IgG and components of complement along the alveolar and glomerular capillary walls. The alveolar hyaline membrane in the present cases revealed immunoglobulins as well as components of complement, which were poorly soluble in chaotropic solution or acidic buffer. These results indicate that circulating immune complexes play a minor role in the pathogenesis of IIP and other types of interstitial pneumonia, and that there is no relationship between immune complex deposition in alveoli and the alveolar hyaline membrane. It is necessary to further investigate factors other than immune complexes involved in alveolar tissue damage and to clarify the significance of the hyaline membrane in the processes occurring from acute changes to pulmonary fibrosis in IIP.     

太空发育鸡胚的前庭感受器细胞形态学研究

为了探讨太空微重力对鸡胚前庭感觉上皮细胞的形态发育的影响 ,选取在航天飞机 (STS-2 9)发育鸡胚和地面发育鸡胚各两只 ,利用计算机显微测量技术分别测量椭圆囊和球囊的毛细胞、支持细胞核的切面面积、周长、形状系数。太空发育鸡胚的球囊支持细胞核的切面面积、周长显著大于地面组 ,形状系数无差异 ;太空发育鸡胚的椭圆囊支持细胞核的切面面积、周长、形状系数以及椭圆囊和球囊毛细胞的切面面积、周长与地面发育鸡胚相比无明显差异。微重力可能对球囊支持细胞核的体积发育有影响 ,对椭圆囊和球囊的毛细胞以及椭圆囊支持细胞核的形态发育无影响。     

Rapid detection of Epstein-Barr virus DNA by loop-mediated isothermal amplification method.

BACKGROUND: The loop-mediated isothermal amplification (LAMP) method is a novel technique for the amplification of specific DNA sequences. OBJECTIVES: To establish the LAMP method for amplifying Epstein-Barr virus (EBV) DNA and to examine its reliability for the detection of EBV DNA in clinical specimens. STUDY DESIGN: Sera from 108 patients, who were initially suspected of primary EBV infection, were tested by the EBV LAMP method, and the results were compared with those of the real-time PCR assay. Serological examination was regarded as the standard diagnostic method. RESULTS: To diagnose primary EBV infection, the sensitivity of LAMP was 86.4% and the specificity was 100%. The sensitivity of the real-time PCR assay was 84.1% and the specificity was 98.4%. Longitudinal analysis showed that the detection rate of EBV DNA in serum by the LAMP method decreased with time in accordance with the decrease of the EBV load. EBV DNA could not be detected in serum 40 days after onset of symptoms. CONCLUSIONS: These results indicate that the sensitivity and specificity of the LAMP method are comparable to those of real-time PCR and that detecting EBV DNA in serum by this method is potentially useful for diagnosing primary EBV infection.