2 型糖尿病家系患者PON2 基因9 Ser311C→G 多态性的研究*

目的:研究黑龙江地区汉族人2型糖尿病家系的PON2基因9 Ser311C→G多态性,探讨其与2型糖尿病发病的关系。方法:应用聚合酶链式反应-限制性内切酶长度多态性(PCR-RFLP)技术,对来自于黑龙江地区120个2型糖尿病家系中的210例2型糖尿病患者及319例正常对照的PON2基因9 Ser311→Cys(C→G)位点进行基因分型。结果:PON2基因9 Ser311C→G三种基因型在病例组和对照组间整体分布没有统计学意义(P=0.610,df=2);各基因型及等位基因在病例组和对照组间分布没有统计学意义(P>0.05)。结论:PON2基因9 Ser311C→G多态性与黑龙江地区汉族人2型糖尿病无关,PON2基因可能不是中国人2型糖尿病发病的相关易感基因。     

Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).

A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.     

BOLD钉治疗桡骨小头骨折的临床疗效分析

目的:报告BOLD钉治疗Mason II型、未累及桡骨颈的Mason III型桡骨小头骨折的临床疗效。方法:自2009年3月至2012年2月对25例Mason II型,12例Mason III型桡骨小头骨折均采用切开复位BOLD钉内固定。结果:所有患者术后均获得随访12-24个月,平均随访14个月,肘关节功能评分:Mason II型平均分94分(88-98分),其中,优20例,良3例,可2例,差0例,优良率92%;Mason III型平均分91分(80-95分)其中,优9例,良1例,可2例,差0例,优良率83.3%。结论:BOLD钉治疗Mason II型及未累及桡骨颈的Mason III型桡骨小头有手术操作简单,固定稳定,允许早期活动等优点,可以作为这类骨折治疗的新选择。     

Immunohistochemical diagnosis of abdominal and lymph node tuberculosis by detecting Mycobacterium tuberculosis complex specific antigen MPT64

Background

Epstein-Barr virus has been proved to be associated with many of the human malignancy including gastric carcinoma, one of the most important human malignancies in the world. There has been no study about the presence of EBV in gastric adenocarcinoma in Iran.

Methods

We examined the presence of EBV in 273 formalin fixed paraffin-embedded cases of gastric carcinoma from Cancer institute of Tehran University, from 1969 to 2004. In situ hybridization of EBV-encoded small RNA-1 (EBER-1) was conducted. The strain of positive cases was examined by means of polymerase chain reaction and/or restriction fragment length polymorphism analysis.

Results

We found 9 (3%; 95% CI = 1–5%) EBV positive cases. The gender difference was not statisticaly significant. The proportion of EBV-GC cases in diffuse type was higher than intestinal type (OR = 0.08; 95% CI = 0.002–0.64). EBV-GC cases had no relation with age, location and invasion. Six out of 9 EBV-GC cases were born during the period between 1928 and 1930. All 9 cases were Type A. Prototype F was seen in 6 out of 8 cases. Type "i" was found in 8 cases and type I in 1 case. XhoI+ and XhoI- polymorphism accounted 6 and 3 of the cases, respectively.

Conclusion

Our study is the first to describe the frequency of EBV-GC in Iran and the Middle East, highlighting a very low prevalence with specific clinicopathologic features. The predominance of EBV-GC birth year in a fixed period, suggests that EBV infection or other events at early childhood may be related to the development of EBV-GC later in the life. The predominance of the type "i" and XhoI+ cases are contradictory to other studies in Asia and is similar to what is reported from Latin American countries.     

Tinea capitis by Microsporon gypseum

Summary Scalp involvement byM. gypseum was found in 22 children (15 boys and 7 girls), ranging from 1 till 12 years of age, most cases coming from urban areas. Kerion-like manifestation was observed in 9 cases, the rest presenting the superficial form of tinea capitis infection. The main type of hair invasion was ecto-endothrix, but endothrix type was also observed in 4 cases with favus-like aspect. The parasitised hair exhibited no fluorescence. The soil was proved to be the source of contamination in 40 % of the cases, where a trauma had favoured the transmission of the causative agent.     

Membrane Lipids, Selectively Diminished in Alzheimer Brains, Suggest Synapse Loss as a Primary Event in Early-Onset Form (Type I) and Demyelination in Late-Onset Form (Type II)

Abstract: Major membrane lipids were quantified in frontal (Brodmann area 9) and temporal (Brodmann areas 21 and 22) cortices, caudate nucleus, hippocampus, and frontal white matter of 12 cases with Alzheimer's disease (AD) type I (early onset), 21 cases with AD type II (late onset), and 20 age-matched controls. The concentration of gangliosides—a marker for axodendritic arborization—was reduced to 58–70% of the control concentration in all four gray areas (p < 0.0001) and to 81 % in frontal white matter (p < 0.01) of AD type I cases, whereas it was only significantly reduced in temporal cortex (p < 0.01), hippocampus (p < 0.05), and frontal white matter (p < 0.05) in AD type II cases. The concentration of phospholipids was also significantly reduced (p < 0.01–0.0001) in all four gray areas of AD type I cases but in no area of AD type II cases. The loss of cholesterol was only 50% of the corresponding phospholipid diminution in AD type I. These results suggested a pronounced loss of nerve endings in AD type 1. The characteristic membrane lipid disturbance in AD type II was a loss of myelin lipids. This is the first time a fundamental biochemical difference has been shown between the two major forms of AD.     

脂蛋白酯酶基因HindIII和PvuII位点多态与中国人2型糖尿病的关联及meta分析

目的：探讨脂蛋白脂酶基因HindIII（rs320）和PvuII（rs285）位点多态与中国人2型糖尿病的相关性。方法：采用聚合酶链反应-限制性片段长度多态性方法,对919个湖北地区汉人（包括2型糖尿病患者481人,健康对照438人）脂蛋白脂酶基因内含子6PvuII和内含子8HindIII位点多态进行基因分型和关联分析,同时对中国大陆人群的相关研究进行meta分析。结果：HindIII和PvuII位点湖北汉族2型糖尿病人和正常人的基因型和等位基因频率均无显著差异。5个研究包括2型糖尿病患者1252例,健康对照1075例的PvuII位点meta分析表明该位点与中国人2型糖尿病无显著相关性（P=0.39）;9个研究包括2型糖尿病患者1515例,健康对照1022例的HindIII位点meta分析表明该位点与中国人2型糖尿病也无相关性（P=0.14）。结论：脂蛋白脂酶基因HindIII和PvuII位点多态与中国人2型糖尿病的发生无关。     

Nonketotic hyperglycinemia: clinical and metabolic aspects

The molecular nature of the glycine cleavage system was investigated in 16 patients with nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied. It was undetectable or extremely low in the neonatal type of NKH, whereas there was some residual activity in the infantile type of NKH. Thus the clinical phenotypes do seem to relate to the degree of the defect in the glycine cleavage system. In the neonatal type, a specific defect in P protein was found in 9 cases and a specific defect in T protein in 2 cases. In the infantile type, a partial defect in T protein was found in 2 cases. Differential diagnosis between NKH and ketotic hyperglycinemia is described. A feasibility of prenatal diagnosis of NKH by chorionic villus biopsy is provided.     

The expression of a novel estrogen receptor, GPR30, in epithelial ovarian carcinoma and its correlation with MMP-9

The aim of the present study is to investigate the expression of a novel estrogen receptor, G protein-coupled receptor 30 (GPR30) and its correlation with matrix metalloproteinases-9 (MMP-9) in epithelial ovarian cancer (EOC). Ovary tissues were obtained from 39 female patients, including 30 cases of EOC and 9 cases of benign ovarian tumor. Four normal ovary tissues were used as control. Immunohistochemical staining was used to detect the expressions of GPR30 and MMP-9. Chi square test, Fisher's exact test and Spearman's rank correlation analysis were used for statistical analysis. The results showed that GPR30 overexpression rate in EOC cases was significantly higher than those in benign ovarian tumor and normal ovary cases. Whereas MMP-9 overexpression rate in EOC cases was significantly higher than that in normal ovary cases, without any difference to that in benign ovarian tumor cases. To demonstrate the relationship between GPR30 and clinicopathological variables of EOC, we further analyzed the pathology type, FIGO stage and age of patients sampled in our study. The analysis showed there were significant differences of GPR30 overexpression rate among various pathology types and different FIGO stages (P<0.05), and no significant difference of both GPR30 and MMP-9 among three age groups (P>0.05). Moreover, GPR30 expression was positively correlated with MMP-9 (r(s)=1.000, P=0.002). These results suggest that GPR30 may be involved in the invasion and metastasis of EOC, being a potential index of EOC early diagnosis and malignancy grade prediction.     

Enteroviral aseptic meningitis in Japan, 1981-1991. A report of the National Epidemiological Surveillance of Infectious Agents in Japan.

In Japan, aseptic meningitis cases due to enterovirus infections increase every summer in various degrees with an incidence peak usually in July. During the past 11 years from 1981 through 1991, a total of 8,595 enterovirus isolations from aseptic meningitis cases were reported from 54 participating laboratories. Eight enterovirus types caused large epidemics; more than 100 isolations of each type from aseptic meningitis cases were reported for every epidemic year of the respective type. They were coxsackievirus (C) types B3 and B5, echovirus (E) types 4, 6, 7, 9, 18 and 30. Among these, the highest meningitis-associating frequency was reported for E30, representing 82.6% of the total isolations reported for the type during this period, followed by E4, 71.1%. The frequencies of E9, E7, E6 and CB5 were in a range from 54.5% to 44.4%, while that of E18 was 37.7% and that of CB3 21.0%. During the epidemics, enterovirus-associated meningitis was most frequently reported among children of 4-7 years of age. High frequencies were also shown in infants less than 1-year of age in some types. A total of 4,240 enteroviruses were isolated from cerebrospinal fluid of aseptic meningitis cases, representing 49.3% of the cases with enterovirus isolation.     

非小细胞肺癌组织MMP-2、MMP-9的表达与组织学类型及临床分期的关系

目的:探究非小细胞肺癌组织基质金属蛋白酶-2(MMP-2)、基质金属蛋白酶-9(MMP-9)的表达及其与患者组织学类型及其临床分期的关系。方法:选取2014年1月至2017年1月于我院进行就诊并确诊为非小细胞肺癌的96例患者为实验组,另选取30例肺良性病变患者为对照组,使用免疫组织化学的方法检测患者肺癌组织或肺良性病变组织中MMP-2、MMP-9的表达,并分析MMP-2、MMP-9的表达与患者组织学类型及临床分期之间的关系。结果:非小细胞肺癌组织MMP-2及MMP-9表达水平显著高于肺良性病变组织(P0.05)。非小细胞肺癌鳞癌组织MMP-2、MMP-9表达明显高于腺癌和腺鳞癌(P0.05),而鳞癌与腺鳞癌组织MMP-2、MMP-9表达相比差异无统计学意义(P0.05)。随着非小细胞肺癌临床分期的增加,癌组织MMP-2及MMP-9表达逐渐上升,各分期比较差异均具有统计学意义(P0.05)。结论:MMP-2、MMP-9在非小细胞肺癌组织中的表达水平明显上调,以鳞癌最高,且与临床分期显著相关,提示其对组织学类型、临床分期、病情评估和预后判断均具有一定的参考意义。     

高频超声对乳腺导管内乳头状瘤的诊断价值分析

目的探讨高频彩色多普勒超声对导管内乳头状瘤的诊断价值。方法回顾性分析36例39个病变经手术和病理证实为导管内乳头状瘤的超声图像表现及特征,并与病理结果比较。结果高频超声对Ⅰ型导管内乳头状瘤的诊断准确率为92.8%,Ⅱ型为90.9%,Ⅲ型为50%,Ⅳ型为80%,Ⅴ型为60%。结论高频多普勒超声可作为导管内乳头状瘤首选的检查方法之一。     

Distribution of the carcinoembryonic antigen CEA in gastric lesions. Immunohistochemical testing of three novel monoclonal antibodies

Three mouse monoclonal antibodies MAB (CEA 12-140-1, -2 and -4) raised against different CEA epitopes were tested in 32 gastric adenocarcinomas (18 intestinal type and 14 diffuse type) and 34 gastric lesions with severe and moderate dysplasia. The MAB stained 13, 11 and 13 out of the 14 diffuse carcinomas and 11, 13 and 13 out of the 18 intestinal carcinomas. The dysplastic lesions were positive in 9, 9 and 6 out of 34 cases. Less than half of the cases with metaplastic epithelium adjacent to the carcinomas were also positive for MAB. All MAB showed the same pattern of reactivity without cross-reactivity. Their cumulative staining rate corresponded closely to that of polyclonal CEA antiserum, but the MAB stained more cells. The reactivity was confined to intracytoplasmic vacuoles in diffuse carcinomas and appeared diffusely in the cytoplasm or limited to the cell membrane in intestinal type of carcinomas. Our findings do not indicate CEA to be a reliable marker for malignant transformation in gastric mucosa.     

Trend of adenovirus type 7 infection, an emerging disease in Japan. A report of the National Epidemiological Surveillance of Infectious Agents in Japan

The program of the National Epidemiological Surveillance of Infectious Diseases under the auspices of the Ministry of Health and Welfare started in 1981 apprehended in 1995 emergence of adenovirus type 7 in Japan. We analyzed the reported data of type 7 comparing with those of type 3, both belonging to the same subgenus B, and the following results were obtained: After 1981, the main serotypes in the reports of adenovirus isolation/detection were types 3, 2, and 1 in this order. The reports of isolation of adenovirus type 7 used to be extremely few, however, suddenly increased in 1995. In 1997, reports of isolation of adenovirus type 3 decreased and those of type 7 acquired the third place after those of types 2 and 3. Type 7 infection occur almost every month, but most frequently during May-September. The ages of cases from which type 7 was isolated were 0-4 years accounting for 55%, 5-9 years 35%, teens 6.3% and adults 4.0%, being similar proportions to those yielding type 3. Clinical diagnoses of cases yielding adenovirus type 7 were pharyngo-conjunctival fever (PCF) and influenza-like illness, these two accounting for half. The symptoms were severe, being characterized by higher maximum body temperature during the feverish period and severe pneumonia. Encephalitis and arthro-muscular pain were seen in only type 7-infected cases, although such cases were few.     

Genetic markers of pathogenicity of conditionally pathogenic enterobacteria isolated from children with diarrheal diseases

In the process of examination of 89 children from different age groups with diarrheal disease caused by bacteria from Enterobacteriaceae family 89 microorganisms were isolated including Klebsiella spp. (37 isolates), Citrobacter spp. (9 isolates), Enterobacter spp. (17 isolates), Hafnia alvei (1 isolate), Morganella morganii (11 isolates), Proteus spp. (14 isolates). Presence of genes associated with pathogenicity islands (PAIS): hlyA, hlyB (hemolysin), sfaG (fimbria antigen type S), cnf1 (cytotoxic necrotizing factor 1), estB (heat-stable enterotoxin B)were studied in these cultures by PCR. It was found that 32.6% of examined isolates had fragments of PAIS's genes--hlyA was detected in 9 cases (10.1%), hlyB--in 10 cases (11.2%), sfaG --in 8 cases (9%), cnf1--in 9 cases (10.1%), and estB--in 3 cases (3.4%). Positive correlation between genetic determinants hlyB and cnf1 as well as hlyA and sfaG was found while estB was not associated with other genes. Weak positive correlation between presence of sfaG and resistance to tetracycline and chloramphenicol was detected. Factors coded by revealed determinants of PAIS can play a role in the development of diarrheal syndrome.     

Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features

Background

Medulloblastoma is the most common malignant brain tumor in children. Despite recent improvements in cure rates, prediction of disease outcome remains a major challenge and survivors suffer from serious therapy-related side-effects. Recent data showed that patients with WNT-activated tumors have a favorable prognosis, suggesting that these patients could be treated less intensively, thereby reducing the side-effects. This illustrates the potential benefits of a robust classification of medulloblastoma patients and a detailed knowledge of associated biological mechanisms.

Methods and Findings

To get a better insight into the molecular biology of medulloblastoma we established mRNA expression profiles of 62 medulloblastomas and analyzed 52 of them also by comparative genomic hybridization (CGH) arrays. Five molecular subtypes were identified, characterized by WNT signaling (A; 9 cases), SHH signaling (B; 15 cases), expression of neuronal differentiation genes (C and D; 16 and 11 cases, respectively) or photoreceptor genes (D and E; both 11 cases). Mutations in β-catenin were identified in all 9 type A tumors, but not in any other tumor. PTCH1 mutations were exclusively identified in type B tumors. CGH analysis identified several fully or partly subtype-specific chromosomal aberrations. Monosomy of chromosome 6 occurred only in type A tumors, loss of 9q mostly occurred in type B tumors, whereas chromosome 17 aberrations, most common in medulloblastoma, were strongly associated with type C or D tumors. Loss of the inactivated X-chromosome was highly specific for female cases of type C, D and E tumors. Gene expression levels faithfully reflected the chromosomal copy number changes. Clinicopathological features significantly different between the 5 subtypes included metastatic disease and age at diagnosis and histology. Metastatic disease at diagnosis was significantly associated with subtypes C and D and most strongly with subtype E. Patients below 3 yrs of age had type B, D, or E tumors. Type B included most desmoplastic cases. We validated and confirmed the molecular subtypes and their associated clinicopathological features with expression data from a second independent series of 46 medulloblastomas.

Conclusions

The new medulloblastoma classification presented in this study will greatly enhance the understanding of this heterogeneous disease. It will enable a better selection and evaluation of patients in clinical trials, and it will support the development of new molecular targeted therapies. Ultimately, our results may lead to more individualized therapies with improved cure rates and a better quality of life.     

Cantú syndrome is caused by mutations in ABCC9

Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in ABCC9 were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism. All mutations were missense, and several mutations affect Arg1154. This mutation hot spot lies within the second type 1 transmembrane region of this ATP-binding cassette transporter protein, which may suggest an activating mutation. ABCC9 encodes the sulfonylurea receptor (SUR) that forms ATP-sensitive potassium channels (K(ATP) channels) originally shown in cardiac, skeletal, and smooth muscle. Previously, loss-of-function mutations in this gene have been associated with idiopathic dilated cardiomyopathy type 10 (CMD10). These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies.     

肝硬化合并肝肾综合征的临床特点分析

目的探讨肝硬化合并肝肾综合征的临床特点。方法分析患者的病因,Child-Pugh肝功能分级及肝肾综合征的诱因,比较Ⅰ型、Ⅱ型肝肾综合征发病前后的血肌酐、血钠和尿量变化。结果肝肾综合征的发病率为8.46%;全部为肝硬化患者;其中大量腹水者14例,自发性腹膜炎或其他部位感染者11例,上消化道出血者9例,大量放腹水(2 000 ml/次)而未采取补充有效血容量5例,中等量以下腹水且无上述诱因者14例,肝移植失败后诱发肝肾综合征1例。Child-Pugh B级5例,Child-Pugh C级49例。结论肝功能储备状态差;大多数患者发病前有诱因,血肌酐值明显升高,尿量减少明显,血钠减少。     

Imaging Findings of Primary Splenic Lymphoma: A Review of 17 Cases in Which Diagnosis Was Made at Splenectomy

Purpose

This study sought to characterize the imaging features of primary splenic lymphoma (PSL).

Materials and Methods

Pathological and imaging data from 17 patients with primary splenic lymphoma initially diagnosed at splenectomy were retrospectively analyzed. Pretreatment computed tomography (CT) imaging was available for 16 patients, and magnetic resonance imaging (MRI) data were available for 4 patients. Splenic lymphoma imaging data were categorized based on the gross pathological presentation in the following manner: type 1, homogeneous enlargement; type 2, miliary nodules; type 3, multifocal masses of varying size; and type 4, solitary large mass.

Results

Of the 17 patients with PSL, 16 cases were non-Hodgkin lymphoma, and of these, 9 cases were diffuse large B cell lymphomas (DLBCL) and 4 cases were splenic marginal zone B-cell lymphoma (SMZL). Imaging showed the following types of PSL presentation: 1 case of type 1, 0 cases of type 2, 4 cases of type 3, and 12 cases of type 4. There was evidence of necrosis in 12 cases (70.6%), and there was evidence of mild enhancement in enhanced CT in 14 cases and in enhanced MRI in 3 cases. Prior to surgery, PSL was considered possible in 8 patients.

Conclusion

The most frequent histological subtype was DLBCL, followed by SMZL. In both CT and MRI, PSL generally presents as a solitary mass or masses rather than as splenomegaly. In addition, necrosis and mild enhancement are commonly observed, and splenectomy may be required to confirm the diagnosis.