EWSR1-SMAD3 positive fibroblastic tumor: a clinicopathological analysis / 中华病理学杂志

Objective: To investigate the clinicopathological features, immunophenotypes and molecular genetics of EWSR1-SMAD3 positive fibroblastic tumor (ESFT) with an emphasis on differential diagnosis. Methods: The clinicopathological data, immunohistochemical profiles and molecular profiles of 3 ESFT cases diagnosed at the Department of Pathology, Fudan University Shanghai Cancer Center from 2018 to 2021were analyzed. The related literature was also reviewed. Results: There were two males and one female. The patients were 24, 12 and 36 years old, respectively. All three tumors occurred in the subcutis of the foot with the disease duration of 6 months to 2 years. The tumors were presented with a slowly growing mass or nodule, accompanied with pain in 1 patient. The tumors ranged in size from 0.1 to 1.6 cm (mean, 1.0 cm). Microscopically, the tumors were located in the subcutaneous tissue with a nodular or plexiform growth pattern. They were composed of cellular fascicles of bland spindle cells with elongated nuclei and fine chromatin. One of the tumors infiltrated into adjacent adipose tissue. There was no nuclear atypia or mitotic activities. All three tumors showed prominent stromal hyalinization with zonal pattern present in one case. Focal punctate calcification was noted in two cases. The immunohistochemical studies showed that tumor cells were diffusely positive for ERG and negative for CD31 and CD34, with Ki-67 index less than 2%. Fluorescence in situ hybridization on the two tested cases identified EWSR1 gene rearrangement. The next generation sequencing analysis demonstrated EWSR1-SMAD3 fusion in all three cases. During the follow up, one patient developed local recurrence 24 months after the surgery. Conclusions: ESFT is a benign fibroblastic neoplasm and has a predilection for the foot, characterized by ERG immunoreactivity and EWSR1-SMAD3 fusion. Local recurrence might occur when incompletely excised. Familiarity with its clinicopathological features is helpful in distinguishing it from other spindle cell neoplasms that tend to occur at acral sites.

Epidemiology investigation of type 2 diabetes mellitus and its associated renal insufficiency in a community-based population in Shanghai / 中华疾病控制杂志

Objective To investigate the prevalence and related factors of type 2 diabetes mellitus(T2DM) and its associated renal insufficiency in adult residents of a community in Shanghai. Methods A total of 9 257 residents aged 20-75 years old in a community of Shanghai were selected by random cluster sampling. All participants were interviewed to complete questionnaires, physical examination, examination of blood, urine and common biochemical indicators for T2DM, renal insufficiency and other related factors. Then the SPSS 19.0 software was used for analysis. Results Of the 9 257 respondents, eligible data of 8 207 subjects were enrolled in the study. The prevalence of T2DM was 12.7% (95% CI: 12.0%-13.4%), and the prevalence of its associated renal insufficiency was 15.4% (95% CI: 12.3%-18.4%), and majority of patients (65.8%) were in the early stage. Among the T2DM patients in this survey, the prevalence of renal insufficiency in obese patients was higher than that in patient with the normal body mass index. Logistic regression analysis showed that elder (OR=1.35), central obesity (OR=1.50), hyperuricemia (OR=2.51) were independent risk factors related with renal insufficiency in T2DM patients. Conclusions Renal insufficiency has become one of the important public health problems in T2DM patients. It shows a more urgent need for early prevention and control of CKD to prevent the incidence of end-stage renal disease and related complications in T2DM patients with advanced age, obesity, and hyperuricemia.

Relationship between hyperuricemia and chronic kidney disease in adult residents of communities in the Songjiang district, Shanghai / 中华疾病控制杂志

Objective To explore the relationships between hyperuricemia (HUA)，serum uric acid (SUA) level and the chronic kidney disease (CKD) in adult residents of communities. Methods A cross-sectional study was conducted in Xinqiao town of Songjiang district, Shanghai and a total of 9 527 residents aged 20-75 years were selected by random cluster sampling. Logistic regression models were used to evaluate the association between SUA and CKD. Results Subjects were divided into five groups according to the gender-specific quintiles of SUA. The CKD prevalence in serum uric acid quintiles of male were 4.9%, 5.7%, 6.0%, 8.0% and 13.8% respectively，while of female were 12.8%, 12.7%, 11.9%, 13.3% and 18.2% respectively, increasing along with the increase of SUA among both sexes (all P420 μmol/L(male) or >360 μmol/L(female). In the unadjusted model, HUA was significantly associated with CKD of all subjects (OR=2.03, 95% CI:1.69-2.44, P<0.001), and the association was still significant (OR=2.04, 95% CI:1.68-2.49, P<0.001) after adjustment for the potential confounders. The multivariate-adjusted odds of CKD associated with HUA was 2.89 (95% CI:2.12-3.94,) and 1.98 (95% CI:1.51-2.60) for male and female, respectively. Conclusion Hyperuricemia was independently associated with the increased prevalence of CKD among community-based population living in the Songjiang district, Shanghai.

Analysis of Serum Lp(a) Levels in Patients with Different Genotypes of HCV Infection / 现代检验医学杂志

Objective To investigate whether serum Lp(a) level was related to the different genotypes of hepatitis C virus.Methods The serum and corresponding clinical data of 105 patients (male:59,female:46;average age:43.4± 19.8) infected HCV and 30 healthy controls in the Second Affiliated Hospital of Xi'an Jiaotong University from June 2016 to June 2017 were collected.HCV genotypes was detected by PCR-reverse point hybridization,all Lp(a) levels of serum were detected by using automatic biochemical analyzer AU5800 of Beckman.The comparison of the mean of the two samples was applied with t-test,analysis of variance was applied to compare among samples.Results There were 5 genotypes found in 105 patients,including 31 patients with genotype 1b of HCV infection,30 patients with genotype 2a infection,19 patients with genotype 3a infection,12 patients with genotype 3b infection,13 patients with genotype 6a infection.The serum levels of Lp(a) in patients infected with HCV (10.87±6.21 mg/L) were significantly lower than that of healthy controls (21.51± 12.99 mg/L),the difference was statistically significant (t =6.281,P＜0.000 1),meanwhile,the level of each genotype (3 b,6a,2a,3a and 1b was 12.51±6.11,9.75±5.73,12.28±7.63,9.22±4.47 和 10.37±5.75 mg/L,respectively) was lower than that of healthy controls,respectively (t =4.355,3.356,3.965,2.288 and 3.119,all P＜ 0.05),and the difference among genotypes was no statistically significant (F=1.091,P=0.365 4).Conclusion Compared with healthy controls,HCV could reduce the expression of serum Lp(a),but the serum Lp(a) levels were not associated with the genotypes of HCV.

Expression of Cyclin D2 and its clinicopathological significance in diffuse large B cell lymphoma / 临床与实验病理学杂志

Purpose To investigate the expression of Cyclin D2 in diffuse large B cell lymphoma (DLBCL) and its relationship with clinicopathological classification and prognosis. Methods (1) Immunohistochemistry (IHC) of EnVision twostep staining for CD3, CD20, CD10, BCL-6, MUM1, Ki-67 and Cyclin D2 was carried out in 79 cases of DLBCL specimens using tissue microarray constructed from tumor paraffin block.(2) The relative expression of Cyclin D2 mRNA in 79 cases of DLBCL was observed by realtime quantitative PCR (qRT-PCR) in fresh frozen tissue. The relationship between the expression of Cyclin D2 mRNA and survival rate was analyzed by Kaplan-Meier test. Results 79 patients of DLBCL were classified into26 (32.9％) case of germinal center B-cell-like (GCB) sub-types and 53 (67.1％ ) cases of nongerminal center B-cell-like(non-GCB) subtypes. Cyclin D2 protein was expressed in 2(15.4％) cases of GCB subtypes and 11 (84.6％) cases of non-GCB subtypes, respectively. The difference between the GCB subtypes and the non-GCB subtypes was statistically significant (P＜ 0.05). The expression of Cyclin D2 mRNA in non-GCB subtypes was significantly higher than that in GCB subtypes(P＜ 0.05 ). The high clinical stage and the expression of Cyclin D2 mRNA were associated with lower overall survival rate. Conclusion The detection of Cyclin D2 expression can improve the accuracy of clinicopathological classification of DLBCL. The level of Cyclin D2 mRNA may be an important reference for prognosis of DLBCL.

An analysis of donor semen quality in Chongqing Human Sperm Bank / 中华男科学杂志

<p><b>Objective</b>To evaluate the quality of the donor semen in Chongqing Human Sperm Bank and the influence of age on semen parameters.</p><p><b>METHODS</b>We collected semen samples from 899 donors in Chongqing Human Sperm Bank and divided them into five groups according to the age of the semen donors: 22－25, 26－30, 31－35, 36－40, and >40 years old. Using the Makler Counting Chamber, we measured the semen volume, percentage of progressively motile sperm (PMS), total motile sperm, sperm concentration, total sperm count per ejaculate, and percentage of morphologically normal sperm (MNS). Then, we compared the semen parameters obtained with the fifth percentile and median reference values published in the WHO Laboratory Manual for the Examination and Processing of Human Semen-5th Ed (WHO 5th Ed) and among different age groups using the Kruskall-Wallis H test.</p><p><b>RESULTS</b>The semen volume (1.8 ml), sperm concentration (25.0 × 10⁶/ml), total sperm count (100.7 × 106/ejaculate) and MNS (4.3%) in the semen samples of the 899 donors were obviously higher than the fifth percentile values published in the WHO 5th Ed, and so were the first three parameters (4.0 ml, 88.0 × 10⁶/ml, and 333.7 × 106/ejaculate) than the WHO median reference values. PMS (31.0%) and total motile (38.0%) were lower than the WHO fifth percentile values and so was MNS (11.6%) than the WHO median reference value. PMS (55.0%) and total motile sperm (61.0%), however, were coincident with the median reference values of WHO 5th Ed. Statistically significant differences were observed among the 22－25, 26－30, 31－35, 36－40 and >40 years old groups in perm concentration (88.0 ［1.0－270.0］ vs 96.0 ［5.0－335.0］ vs 100.0 ［3.0－200.0］ vs 105 ［15.0－225.0］ vs 90.0 ［22.0－159.0］ × 10⁶/ml, P < 0.05), but not in the semen volume, PMS, total sperm motility, total sperm count or MNS (P > 0.05).</p><p><b>CONCLUSIONS</b>The donor semen in Chongqing Human Sperm Bank is generally of high quality. Sperm concentration significantly increases with age but decreases in men aged >40 years.</p>

Bacterial culture of donor semen: Analysis of results / 中华男科学杂志

<p><b>Objective</b>To investigate bacterial infection and the distribution of different bacterial species in the donor semen and the influence of different bacterial counts on semen quality.</p><p><b>METHODS</b>Bacterial colonies in the semen samples from 1 126 donors were counted with the Synbiosis Protocol 3 Automatic Colony Counter and the bacterial species with a colony count ≥10⁴ cfu/ml identified with the VITEK2 Compact Automatic Biochemical Analyzer. The Makler Sperm Counting Board was used to examine the semen quality of the semen samples with a colony count = 0 cfu/ml (n = 22, group A), those with a colony count <10⁴ cfu/ml (n = 22, group B) and those with a colony count ≥10⁴ cfu/ml (n = 22, group C). Univariate analysis was employed for comparison of semen quality among different groups.</p><p><b>RESULTS</b>Among the 1 126 donor semen samples cultured, 5 (0.44%) showed mixed bacterial contamination and 993 (88.58%) showed none but with growth of a certain species of bacteria, 2.22% (22/993) with a colony count ≥10⁴ cfu/ml, mainly including Streptococcus bovis, tiny bacilli, Staphylococcus epidermis, and Staphylococcus aureus, among which gram-positive and gram-negative bacteria accounted for 95.45% (21/22) and 4.54% (1/22), respectively. Compared with group A, groups B and C manifested significantly reduced total sperm count (［567.5 ± 327.6］ vs ［421.9 ± 155.9］ and ［389.9 ± 110.6］ × 106 per ejaculate, P <0.05) and percentage of progressively motile sperm (［65.0 ± 6.5］ vs ［61.0 ± 3.5］ and ［61.6 ± 4.3］ %, P <0.05). There were no statistically significant differences among the three groups in the semen liquefaction time, semen pH value, total sperm motility or percentage of morphologically normal sperm (P > 0.05). Of the 284 randomly selected semen samples, 34 (11.97%) were found positive for Ureaplasma urealyticum (UU) and no significant difference was observed in the semen quality between the UU-positive and UU-negative samples (P> 0.05).</p><p><b>CONCLUSIONS</b>The bacteria-positive rate is high in the donor semen and the bacterial species are varied, mainly including gram-positive bacteria. Semen quality is reduced with the increased number of bacterial colonies.</p>

Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Ankylosing spondylitis (AS) is the most common rheumatic condition that is slowly progressive and predominantly affects adolescents. Pathological bone formation associated with AS is an important cause of disability. The aim of the study was to investigate the possible involvement of the genes related to endochondral ossification and ectopia ossification in genetic susceptibility to AS in a Chinese Han population.</p><p><b>METHODS</b>Sixty-eight single nucleotide polymorphisms (SNPs) from 13 genes were genotyped in discovery cohorts including 300 AS patients and 180 healthy controls. The rs10019009 in dentin matrix protein 1 (DMP1) gene shown as association with AS after multiple testing corrections in discovery cohorts was replicated in a validation independent cohort of 620 AS patients and 683 healthy controls. The rs10019009 was assessed with bioinformatics including phylogenetic context, F-SNP and FastSNP functional predictions, secondary structure prediction, and molecular modeling. We performed a functional analysis of rs10019009 via reverse transcription-polymerase chain reaction, alkaline phosphatase (ALP) activity in human osteosarcoma U 2 OS cells.</p><p><b>RESULTS</b>Interestingly, the SNP rs10019009 was associated with AS in both the discovery cohort (P = 0.0012) and validation cohort (P = 0.0349), as well as overall (P = 0.0004) in genetic case-control association analysis. After a multivariate logistic regression analysis, the effect of this genetic variant was observed to be independent of linkage disequilibrium. Via bioinformatics analysis, it was found that the amino acid change of the rs10019009 led to changes of SNP function, secondary structure, tertiary conformation, and splice mode. Finally, functional analysis of rs10019009 in U 2 OS cells demonstrated that the risk T allele of the rs10019009 increased enzymatic activity of ALP, compared to that of the nonrisk allele (P = 0.0080).</p><p><b>CONCLUSIONS</b>These results suggested that the DMP1 gene seems to be involved in genetic predisposition to AS, which may contribute to the ectopic mineralization or ossification in AS. In addition, DMP1 gene may be a promising intervention target for AS in the future.</p>

Role of RAGE in lipopolysaccharide-induced cytoskeletal changes in mouse pulmonary microvascular endothelial cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate lipopolysaccharide (LPS)-induced changes of cytoskeletal filamentous actin in primary isolated pulmonary microvascular endothelial cells (PMVECs) from wild-type and RAGE knock-out mouse.</p><p><b>METHODS</b>The lungs of wild-type and RAGE knock-out mice were digested with collagenase type I to obtain endothelial cells purified by anti-CD31-coupled magnetic beads. The PMVEC identified by factor VIII labeling were stimulated with LPS at different concentrations and the changes of filamentous actin were observed by confocal microscopy.</p><p><b>RESULTS</b>The cultured primary cells showed typical endothelial cell phenotype as examined with factor VIII labeling. LPS stimulation caused rearrangement of the cytoskeletal filament F-actin in wild-type mouse PMVECs with stress fiber formation, but such changes were not obvious in RAGE knock-out mouse PMVECs.</p><p><b>CONCLUSION</b>Mouse PMVECs of a high purity can be obtained by immune magnetic beads. RAGE is involved in LPS-induced destruction of mouse PMVEC cytoskeletons.</p>

Protective effect of lycopene against diabetic retinopathy in rats and the related mechanism / 第二军医大学学报

Objective To study the protective effect of lycopene (LP) against diabetic retinopathy (DR) in rats and its related mechanism. Methods A single dose of streptozotocin (56 mg/kg) was injected intraperitoneally in SD rats to induce diabetes retinopathy (DR), and the 20 successful DR models were equally randomized into DR group and LP treatment group. Meanwhile, 10 normal rats served as normal control group (NC). LP group received LP gavage (60 mg/kg) once a day; NC and DR groups were gavaged with equivalent saline daily for 8 weeks. The serum levels of endothelin(ET) and calcitonin gene related protein(CGRP) were detected by using radioimmunoassay (RIA), and the expression of vascular endothelial growth factor (VEGF) in the retina was determined by immunohistochemistry and Western blotting analysis. Results The serum levels of ET and expression of VEGF in the retina were significantly increased in DR groups when compared with NC group (P < 0.05), and the serum CGRP was significantly decreased (P < 0.05); Compared with DR group, LP group had significantly lower VEGF expression and ET levels and significantly higher level of CGRP (P < 0.05). Conclusion LP can protect against DR in rats by decreasing serum ET, increasing serum CGRP, and subsequent down-regulating VEGF expression.

Effect observation on use of fluoride foam in prevention of dental caries increment in primary teeth / 上海预防医学

[Objective] To observe the effect of fluoride foam on dental caries increment in primary teeth, and provide the basis for prevention and control of children's dental caries. [ Methods] Three hundred and thirty-five children were included randomly from junior classes of 4 kindergartens as experi-mental group , and another 268 children from junior classes of another 4 kindergartens as control group .The experimental group used 1.23%fluoride foam twice a year , and the control group did not have any inter-ventions.The two groups of children were followed up for 3 years, and examined for the situation of their caries detection rate and average risk of caries , and for evaluation of the effect of fluoride foam in prevention of children's dental caries . [ Results] Caries detection rate in the two groups increased with age .After 3 years, caries detection rate in control group increased by 34.05%and in experimental group increased by 22. 19%.The use of fluoride foam reduced 10.89%caries disease for experimental group .Caries detection rates were 55.62%in experimental group and 66.51%in control group .The difference in detection rate was sig-nificant between experimental group and control group (P<0.05).Average caries in experimental group was 3.4 ±4.38 after 3 years, and 4.7 ±4.80 in control group.There was a significant difference in average caries between the two groups (P<0.05). [Conclusion] Application of 1.23%fluoride foam was effective in reducing the increment of dental caries in primary teeth , and it is worth promoting in the kindergartens .

Ethnic differences on nutritional status of children under 3 years old in poor counties of the western China / 中华流行病学杂志

Objective To explore the ethnic differences on nutritional status of children under three years old,in the western areas of China and to indentify the affecting factors.Methods 14 072children under the age of three years and their mothers were recruited,using the proportion population sampling method in 45 counties in the western areas of China.Height and weight were used as the measurement on nutrition of children.Results Height and weight of children with Han,Uyghur,Tibetan and Zhuang ethnicities were all lower than the WHO standards and with differences on height and weight among them.There were also ethnic differences on the status of malnutrition.Prevalence rates of stunting were 14.7％,20.3％,26.9％ and 26.5％ for Han,Uyghur,Tibetan and Zhuang ethnicities,respectively.Prevalence rates of underweight were 6.1％,10.7％,6.8％ and 15.5％ among the Han,Uyghur,Tibetan and Zhuang ethnicities,respectively.The prevalence rates of wasting were 4.2％,5.3％,2.9％,8.9％,and of under nutrition were 19.2％,25.5％,30.3％ and 36.5％ for the Han,the Uyghur,the Tibetan and the Zhuang ethnicities,respectively.When factors as family size,years of schooling of parents,family numbers,sex,age (months),mother' s height and weight,ways of feeding and sources of family income etc.were adjusted,children with Uyghur,Tibetan,Zhuang and other ethnicities were still presented more malnutrition than the children with Han ethnicity.Conclusion There were differences on malnutrition status of children under the age of three years among the studies on different ethnicities.Undemutrition was less than nutritional status,seen in children of the Han nationality than other minority ethnicites.Ethnicity seemed to be related to differences in the nutritional status of children in western China while children of the Han nationality would be better than other minorities on nutritional status if they were in same living conditionals.

Analysis on genotype distributions and epidemiological characteristics of Yersinia pestis plague foci in Gansu province / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study the genotype distributions and epidemiological characteristics of Yersinia pestis in Gansu province.</p><p><b>METHODS</b>Primers were designed according to the confirmed 23 differential sections, to genotype the 202 Yersinia pestis DNA of Gansu province by PCR, and to analyze its distribution and epidemiological characteristics.</p><p><b>RESULTS</b>Yersinia pestis in Gansu province could be divided into eight genotypes: 1b, 5, 7, 8, 13, 26, new genotype 1 (GS1) and new genotype 2 (GS2). They were distributed in various regions. 1b, 8 and GS1 genotypes of Yersinia pestis had been identified since 1960s but the 7, 13 and 26 genotypes had not been isolated for more than 40 years while GS2 and 5 genotypes had been isolated since 1990s.</p><p><b>CONCLUSION</b>1b, 8 and GS1 genotypes of Yersinia pestis continued to be violently prevalent since 1960s but 7, 13 and 26 genotypes had not been isolated for more than 40 years while GS2 and 5 genotypes had started to be popular since 1990s.</p>

Value of cytopathology in endobronchial ultrasound-guided transbronchial needle aspiration / 中华病理学杂志

<p><b>OBJECTIVE</b>To evaluate the role of cytopathology in endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for lung tumor diagnosis and staging.</p><p><b>METHODS</b>Two-hundred consecutive cases of lung tumor with EBUS-TBNA performed during the period from April, 2009 to September, 2010 in Shanghai Cancer Hospital were retrospectively reviewed. The cytologic diagnoses were categorized as non-diagnostic, negative, suspicious and malignant. When available, cell block preparation and immunohistochemistry were performed. On the 22 positive cases diagnosed by on-site evaluation, epidermal growth factor receptor (EGFR) mutation study was carried out.</p><p><b>RESULTS</b>In the 200 cases of cytology specimens, 122 cases (69.3%) were diagnosed as malignant, 42 cases (23.9%) as benign and 12 cases (6.8%) as suspicious for malignancy. The non-diagnostic rate was 12.0% (24/200). Amongst the 200 cases studied, 140 cases (70.0%) had histologic correlation available (via core biopsy, mediastinoscopic biopsy or surgical excision). The sensitivity and specificity of EBUS-TBNA cytologic diagnoses were 94.4% and 100%, when using histopathologic findings and clinical follow-up data as gold standard. The cell block preparation and immunohistochemistry were useful in subtyping and diagnosis of extrathoracic malignancy. EGFR mutations were detected in 8 cytology samples (36.4%).</p><p><b>CONCLUSIONS</b>EBUS-TBNA is a sensitive and specific tool for diagnosis and staging of lung cancer. The cytology samples can be used for further ancillary investigations including cell block preparation, immunohistochemistry and molecular studies.</p>

Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.</p><p><b>METHODS</b>The whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH, and the CNVs was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>Two submicroscopic CNVs [del(11)(q24.1-ter)(121951443-134449216, -12.50 Mb),dup(15)(q26.3)(96889082-100215359, -3.33 Mb)] were identified and mapped by array-CGH. MLPA test confirmed both CNVs.</p><p><b>CONCLUSION</b>Del (11) (q24.1-ter) may contribute to hypoplastic left-heart syndrome of the fetus. For its high-resolution and high-accuracy, array-CGH has provided a powerful tool for detection of genomic imbalance.</p>

Detection of 9p partial trisomy using array-based comparative genomic hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect chromosomal aberrations in a child with developmental delay and speech and language disorders in order to explore the underlying genetic causes of congenital malformation, and to investigate the feasibility of array-based comparative genomic hybridization (array-CGH) for molecular genetic diagnosis.</p><p><b>METHODS</b>G-banding and array-CGH were applied to characterize the genetic abnormality in the three family members.</p><p><b>RESULTS</b>G-banding analysis revealed the affected child and the healthy mother are both carriers of inv(9)(p13q13), while the child has carried a chromosome fragment derived from chromosome 13. Array-CGH analysis indicated the derivative chromosome fragment has originated from 9p with breakpoints at around 9p13.1-p24.3.</p><p><b>CONCLUSION</b>Trisomy 9p13.1-p24.3 may be the cause of congenital malformation in the child. For its high resolution and high accuracy, array-CGH is a powerful tool for genetic analysis.</p>

Cytogenetic analysis of a complex chromosomal imbalance 14q+ in a fetus featuring multiple congenital defects / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze chromosomal imbalance in a fetus presenting with congenital heart disease and mild lateral ventriculomegaly, and to investigate the correlation between genotype and phenotype. The etiology of the fetal congenital diseases was determined, and the feasibility of array-based comparative genomic hybridization (array-CGH) application in molecular cytogenetic diagnosis was evaluated.</p><p><b>METHODS</b>Following conventional G-banding analysis, array-based comparative genomic hybridization (array-CGH) was applied to delineate the precise location and size of genomic imbalance.</p><p><b>RESULTS</b>A de novo 46, XY, -14, +der14(q31)? karyotype was identified in the fetus by G-banding analysis. Array-CGH has verified the chromosomal imbalance to be 46, XY, -14, +der(12; 14) (p13; q32.33)del(14) (q32.33→ qter).</p><p><b>CONCLUSION</b>del(14)(q32.33→ qter) is probably the predominant cause of the fetal congenital disease. For its high resolution and accuracy, array-CGH has provided a powerful tool for prenatal diagnosis and genetic counseling.</p>

Detection of chromosomal translocations involving ALK gene in anaplastic large cell lymphoma by fluorescence in-situ hybridization and its clinical significance / 中华病理学杂志

<p><b>OBJECTIVE</b>To investigate clinicopathologic features and clinical value of the chromosomal translocation involving anaplastic lymphoma kinase (ALK) in anaplastic large cell lymphoma (ALCL) by fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>A total of 55 cases, including 45 cases of ALCL and 10 reactive lymphoid hyperplasia, were collected during 1999 to 2006 in the Department of Pathology, Fudan University Shanghai Cancer Center, and Xinhua Hospital Affiliated to Shanghai Jiaotong University. All cases were studied by FISH using dual color break apart probes of ALK for detection of chromosomal translocation, compared with the previous results of immunohistochemistry (IHC) and reverse-transcriptase polymerase chain reaction (RT-PCR) for the detection of ALK aberrations.</p><p><b>RESULTS</b>The result of FISH showed that the clear red and green fluorescence signals were detected in 38 cases of ALCL, in which conspicuous split signals were observed in tumor cells in 24 cases (63.2%), suggesting the rearrangement of the ALK locus, with multiple copies of ALK gene in one case. In addition, the rearrangement of the ALK locus was not identified in 14 of 38 cases (36.8%); and the FISH results were unable to be evaluated in 7 cases, because no fluorescent signals involving ALK gene were found or signals were too weak to be analyzed. The concordance for the detection ALK aberrations in ALCL between FISH and RT-PCR, FISH and IHC were both statistically significant (P < 0.01). Chromosomal translocation involving ALK gene was not found in all 10 cases of reactive lymphoid hyperplasia.</p><p><b>CONCLUSIONS</b>ALCL is an entity of lymphoma characterized by special clinical presentation, morphology, and ALK aberrations. FISH is helpful for detection of the chromosomal translocations involving ALK in ALCL, however, the detection efficiency by FISH may be affected by storage time of the paraffin-embedded tissue; and therefore combined detection with IHC and RT-PCR could complement each other and help for differential diagnosis of ALK(+)ALCL from ALK(-)ALCL.</p>

KRAS and BRAF gene mutations in correlation with clinicopathologic features of colorectal carcinoma in Chinese / 中华病理学杂志

<p><b>OBJECTIVE</b>To retrospectively analyze KRAS and BRAF gene mutation features in Chinese colorectal cancer (CRC) and their clinicopathologic relationship.</p><p><b>METHODS</b>557 colorectal cancer cases were collected, including 325 colon cancer and 232 rectal cancer. PCR amplification and DNA sequencing were used to detect mutations in exon 2 of KRAS gene and exon 15 of BRAF gene mutation.</p><p><b>RESULTS</b>(1) KRAS mutation was found in 40.4% (225/557) colorectal cancer. The most common mutation locations were in codon 12(79.1%, 178/225) and codon 13 (20.4%, 46/225). The most common mutation types were GGT > GAT (G12D) (37.8%, 85/225), GGT > GTT(G12V) (20.0%, 45/225) in codon 12 and GGC > GAC (G13D) in codon 13 (19.6%, 44/225). These three point mutations accounted 77.3% (174/225) in total KRAS gene mutation cases. All cases showed only one of point mutation types. (2) Among 557 CRC cases, KRAS mutation was significantly higher in female (46.2%, 92/199) than in man (37.2%, 133/358; P < 0.05). KRAS gene codon 13 mutation was higher in right colon cancer (11.3%, 12/106) than that in left colon cancer (4.8%, 6/124), but it didn't show any statistical significance (P > 0.05). (3) BRAF gene mutation was 5.1% (10/197) in colorectal cancer and 8/10 were the point mutation of GTG > GAG (V600E). Eight colorectal cancer cases with GTG > GAG (V600E) were not showing KRAS gene mutation. Both two cases with mutation on codon 600 (GTG > ATG, V600M) and codon 606 (GGG > AGT, G606S) showed codon 12 mutation of KRAS gene. (4) BRAF (V600E) gene mutation was higher in female (8.5%, 6/71) than that in male (1.6%, 2/126; P = 0.05); BRAF mutation in colon cancer (8.3%, 6/72) was higher than that in rectum cancer (2.1%, 2/94), but hadn't statistical significance (P > 0.05).</p><p><b>CONCLUSIONS</b>(1) Codon 12, 13 in KRAS gene and codon 600 in BRAF gene are the most common mutation points in Chinese colorectal cancer. KRAS and BRAF mutations are mutually exclusive. (2) KRAS and BRAF gene mutation is higher in female than that in male, suggesting that RAS-RAF-MAPK signal pathway is probably related to hormones directly or indirectly. (3) There is a trend that codon 13 mutation in KRAS and codon 600 mutation in BRAF in right colon cancer are higher than that in left colon cancer, respectively, however, which needs more cases to be further verified.</p>

Psychological Status of Stroke Patients during Rehabilitation / 中国康复理论与实践

@#Objective To understand the psychological status of stroke patients during rehabilitation. Methods 58 stroke patients were detected with Symptom Checklist (SCL-90) after 2 weeks. Results All the patients presented various psychological problems with various degrees after 2 weeks. There was no difference in types and degrees of psychological problem between hemorrhagic and ischemic stroke patients (P>0.05). The scores of depression, anxiety, terror, forced and interpersonal sensitivity were higher in serious limb paralysis patients than in mild ones (P<0.01). Conclusion The incidence of psychological problem is really high in patients after stroke. The more serious limb paralysis is, the more serious psychological problem is.