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Objective:To report 8 cases of hereditary spastic paraplegia type 35 (SPG35) in Chinese mainland, summarize the clinical and genetic features of this disease.Methods:Eight probands with SPG35, admitted in Shanghai Jiao Tong University Affiliated Sixth People′s Hospital and Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from September 2006 to June 2021, were collected in detail. Physical examination, cranial imaging examination and whole exome sequencing were conducted, followed by Sanger sequencing and family co-segregation. In addition, the recent advances in clinical, genetic and pathogenesis studies of the disease were also reviewed.Results:Among all of the 8 patients, 7 had juvenile-onset and 1 was adult-onset. The clinical phenotype of 2 cases was pure spastic paraplegia. The other 6 cases presented with complicated form, which was characterized by not only motor dysfunction, but also cognitive impairment and dysphagia, etc. Genetic testing revealed a total of 13 fatty acid 2-hydroxylase (FA2H) gene (NM_024306) mutations, of which 6 were reported and 7 were newly reported in this study.Conclusions:SPG35 is an autosomal recessive neurodegenerative disease with highly phenotypic heterogeneity, with the causative gene as FA2H. The genotype-phenotype correlations in SPG35 are not clear.
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Objective:To evaluate the value of conventional ultrasound, shear wave elastic parameters and immunohistochemistry in predicting axillary lymph node metastasis of breast cancer.Methods:The ultrasonographic features and pathological results of 172 masses in 152 breast cancer patients who underwent surgery in the First Affiliated Hospital of Shihezi University Medical College from May to October 2020 were analyzed retrospectively. The patients were divided into metastatic group and non-metastatic group according to the status of axillary lymph nodes. The conventional ultrasound characteristics, shear wave velocity (SWV) and immunohistochemical indexes (ER, PR, HER-2, Ki-67) of 2 groups of breast cancer masses were analyzed. Finally, the parameters with statistically significant difference between groups were selected and the Logistic regression model was established.Results:There were significant differences in the aspect ratio, calcification, SWVmean and HER-2 expression between metastatic group and non-metastatic group (all P<0.05). A prediction model was constructed with aspect ratio >1, calcification, high SWVmean and HER-2(+ ). The area under receiver operating characteristic curve (AUC) of the subjects was 0.891, which was larger than the single parameter (all P<0.05), and was in good agreement with pathological results (Kappa=0.731). Conclusions:The joint prediction model can be used to predict the status of lymph nodes, and the axillary lymph node metastasis is more likely to occur in breast cancer with the aspect ratio >1, calcification, high SWVmean and HER-2(+ ).
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The skin is the largest organ comprised of three main layers: epidermis, dermis and subcutaneous tissue. Characteristic microscopic and ultrastructural alterations are present in certain skin structures, such as nerve fibers, blood vessels and sweat glands, not only in vasculitis, but in several other metabolic neurologic diseases. In recent years, advances in immunohistochemistry and electron microscopy have made these dermatopathological changes identifiable and clear-cut. It was then recognized that such pathological feature could be present in many tissues in addition to those nerve systems clinically affected. Skin biopsy has become a recognized diagnostic procedure for peripheral neuropathy and central nervous system diseases. This article reviews the dermatopathology in neurological disorders under light and electron microscope to promote application of skin biopsy in clinical diagnosis for neurologist.
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Objective To evaluate the expression of transient receptor potential melastatin 7(TRPM7)in cholangiocarcinoma and its correlation with prognosis.Methods The expressions of TRPM7 were detected by SP immunohistochemical in 49 cases of cholangiocarcinoma,7 cases of benign bile duct lesions and 36 cases of adjacent histologically noncancerous bile duct tissues,and to analysis its relationship with the clinical pathological characteristics of cholangiocarcinoma.Results The positive expression rate of TRPM7 in cholangiocarcinoma was 77.6%(38/49),which was higher than that in benign bile duct lesions(0,0/7)and adjacent his-tologically noncancerous bile duct tissues(2.8%,1/36),the difference was statistically significant(P 0.05).Kaplan-Meier analysis showed that increased expression of TRPM7 was associated with shorted overall survival (P <0.05).Cox regression analysis showed that the expression level of TRPM7 was significantly associated with prognosis and an independent risk factor for prognosis(P <0.05 ). Conclusion TRPM7 plays an important role in the tumorigenesis progression,invasion,and metastasis of cholangiocarcinoma,and is an important factor for prognosis in patients with cholangiocarcinoma.
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<p><b>OBJECTIVE</b>To evaluate the published data on association between present/null polymorphism of glutathione S-transferase M1 (GSTM1) and breast cancer risk in Chinese population in order to abttain a more precise and comprehensive estimation of the relationship.</p><p><b>METHODS</b>A meta-analysis was performed to investigate the association between GSTM1 polymorphism and susceptibility to breast cancer in Chinese population by searching Pubmed, Embase, Cochrane library, CNKI, VIP, Wanfang and CBD database. The data were screened according to the inclusion and exclusion criteria, and extracted, and the quality of included studies was evaluated. The pooled odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using RevMan 5.2 and Stata 12.0 software. Publication bias and sensitivity analysis were also assessed.</p><p><b>RESULTS</b>A total of 15 case-control studies involving 5,176 cases and 5 890 controls were included in the meta-analysis. The results showed that individuals with GSTM1 null genotype harbored a significantly increased risk of breast cancer compared to that with GSTM1 non-null genotype in Chinese population (OR=1.34, 95%CI=1.12-1.60, P=0.002). The subgroup analysis by region revealed that the individuals with GSTM1 null genotype were significantly associated with an increased risk of breast cancer in southern and northern China populations (southern: OR=1.14, 95%CI=1.01-1.28, P=0.03; northern: OR=2.65, 95%CI=2.04-3.34, P<0.01).</p><p><b>CONCLUSION</b>The current meta-analysis demonstrates that the GSTM1 polymorphism is significantly associated with susceptibility to breast cancer in Chinese population, and the GSTM1-deficit may increase the risk of breast cancer.</p>
Subject(s)
Female , Humans , Asian People , Genetics , Breast Neoplasms , Genetics , Case-Control Studies , China , Confidence Intervals , Gene Deletion , Genetic Predisposition to Disease , Genotype , Glutathione Transferase , Genetics , Odds Ratio , Polymorphism, GeneticABSTRACT
Objective To observe the THP for locally advanced breast cancer in recent efficacy and toxicity. Methods 32 patients with locally advanced breast cancer received chemotherapy: THP 50mg/m~2 , intravenous injection; day 1: CTX600mg/m 5 - FU500mg/m~2, ivgtt on day 1 and day 8,for a period of 21 days. Results 73% had efficiency,with small heart poisonous side effects. Conclusion New adjuvant chemotherapy with THP - containing regimen for the treatment of locally advanced breast cancer has a higher efficacy, and adverse reactions can be tolerated.