Pub Date : 2021-05-25DOI: 10.26420/austinjpathollabmed.2021.1033
H. Chen, Y. Zhang, J. Huang, F. Yang, T. Guo, Y. Mao, C. Liu, L. Cheng, Y. Li, Y. Wang
Background and Aim: Alcoholic Liver Disease (ALD), caused by longterm heavy alcohol consumption, is influenced by genetic factors. Studies have illustrated the overlapping genetic mechanism in Nonalcoholic Fatty Liver Disease (NAFLD) and ALD. Recently, a number of Genome-Wide Association Studies (GWAS) have demonstrated several SNPs were strongly associated with NAFLD. The aim of present study is to evaluate the association between these NAFLD-associated SNPs and ALD in Chinese Han population. Methods: Nine SNPs were selected and genotyped in a cohort of 507 patients with ALD and 645 healthy controls by using MassARRAY iPLEX system. Alleles and genotypes analysis of SNPs were performed in logistic regression. The association between SNP and the level of liver serum biomarkers was tested in chi-square test and linear regression model. Results: Our data confirmed that rs2281135 A-allele in PNPLA3 and rs3761472 G-allele in SAMM50 were significantly associated with increased risk of ALD (P = 1.93×10-12, OR [95% CI] = 1.82 [1.54-2.15]; P = 2.08×10-16, OR [95% CI] = 1.06 [1.04-1.08], respectively). The genotypes of rs2281135 were associated with ALD in additive, dominant and recessive genetic model (P = 1.24×10-11, P = 1.46×10-7, P = 2.07×10-9, respectively). In addition, rs2281135 was found to be associated with serum elevated levels of ALT (P = 5.0×10-3), AST (P = 0.03), ALP (P = 0.02), GGT (P = 0.03) in patients with ALD. Conclusions: The present study confirmed that PNPLA3 common variant rs2281135 was significantly associated with ALD in Chinese male Han population.
背景与目的:酒精性肝病(ALD)是由长期大量饮酒引起的，受遗传因素的影响。研究表明非酒精性脂肪性肝病(NAFLD)和ALD的遗传机制重叠。最近，一些全基因组关联研究(GWAS)表明，一些snp与NAFLD密切相关。本研究的目的是评估这些nafld相关snp与中国汉族人群ALD之间的关系。方法:采用MassARRAY iPLEX系统，从507例ALD患者和645例健康对照中选择9个snp进行基因分型。对snp的等位基因和基因型进行logistic回归分析。采用卡方检验和线性回归模型检验SNP与肝脏血清生物标志物水平的相关性。结果:我们的数据证实，PNPLA3中rs2281135 a等位基因和SAMM50中rs3761472 g等位基因与ALD风险增加显著相关(P = 1.93×10-12, OR [95% CI] = 1.82 [1.54-2.15];P = 2.08×10-16, OR [95% CI]分别= 1.06[1.04-1.08])。rs2281135基因型与ALD存在显性、显性和隐性遗传关系(P = 1.24×10-11, P = 1.46×10-7, P = 2.07×10-9)。此外，rs2281135与ALD患者血清ALT (P = 5.0×10-3)、AST (P = 0.03)、ALP (P = 0.02)、GGT (P = 0.03)水平升高相关。结论:本研究证实PNPLA3共同变异rs2281135与中国男性汉族人群ALD存在显著相关性。
{"title":"Association of Common Variant Rs2281135 of PNPLA3 with Alcohol-Related Cirrhosis in Chinese Han Males","authors":"H. Chen, Y. Zhang, J. Huang, F. Yang, T. Guo, Y. Mao, C. Liu, L. Cheng, Y. Li, Y. Wang","doi":"10.26420/austinjpathollabmed.2021.1033","DOIUrl":"https://doi.org/10.26420/austinjpathollabmed.2021.1033","url":null,"abstract":"Background and Aim: Alcoholic Liver Disease (ALD), caused by longterm heavy alcohol consumption, is influenced by genetic factors. Studies have illustrated the overlapping genetic mechanism in Nonalcoholic Fatty Liver Disease (NAFLD) and ALD. Recently, a number of Genome-Wide Association Studies (GWAS) have demonstrated several SNPs were strongly associated with NAFLD. The aim of present study is to evaluate the association between these NAFLD-associated SNPs and ALD in Chinese Han population. Methods: Nine SNPs were selected and genotyped in a cohort of 507 patients with ALD and 645 healthy controls by using MassARRAY iPLEX system. Alleles and genotypes analysis of SNPs were performed in logistic regression. The association between SNP and the level of liver serum biomarkers was tested in chi-square test and linear regression model. Results: Our data confirmed that rs2281135 A-allele in PNPLA3 and rs3761472 G-allele in SAMM50 were significantly associated with increased risk of ALD (P = 1.93×10-12, OR [95% CI] = 1.82 [1.54-2.15]; P = 2.08×10-16, OR [95% CI] = 1.06 [1.04-1.08], respectively). The genotypes of rs2281135 were associated with ALD in additive, dominant and recessive genetic model (P = 1.24×10-11, P = 1.46×10-7, P = 2.07×10-9, respectively). In addition, rs2281135 was found to be associated with serum elevated levels of ALT (P = 5.0×10-3), AST (P = 0.03), ALP (P = 0.02), GGT (P = 0.03) in patients with ALD. Conclusions: The present study confirmed that PNPLA3 common variant rs2281135 was significantly associated with ALD in Chinese male Han population.","PeriodicalId":8579,"journal":{"name":"Austin Journal of Pathology & Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82724676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-05-08DOI: 10.26420/austinjpathollabmed.2021.1032
X. Guannan, G. Xiujuan, L. Xin, Z. Yujue, L. Zhaoyong, C. Ximeng, L. Fengzhen
Stroke is an acute cerebrovascular event associated with brain tissue injury, representing the most common cause of death. Thrombolysis and recanalization are the principal treatment modalities for ischemic stroke. Some patients experience cerebral ischemia-reperfusion injury following treatment. A previous study established that sesamol is effective in reducing risk factors for stroke. Here, we aimed to investigate the protective effect of sesame phenol on cerebral ischemia-reperfusion injury. A total of 72 SD rats were randomly divided into a sham group, cerebral ischemia-reperfusion (MCAO) group, cerebral ischemia-reperfusion with low dose sesame phenol (MCAO+sesamol A) group and cerebral ischemia-reperfusion with high dose sesame phenol (MCAO + sesamol B) group. After cerebral ischemia had been induced for 2h and reperfusion conducted for 24h, the volume of cerebral infarction, the degree of cerebral edema and the neurological deficit scores were tested. The results showed sesamin improved the neurological deficit score in a dose-dependent manner, reduced the volume of cerebral infarction, degree of cerebral edema. Prophylactic treatment with sesame phenol provided neuroprotective effects on cerebral ischemia-reperfusion injury.
{"title":"Protective Effects of Sesamol on the Brains of Rats with Focal Cerebral Ischemia-Reperfusion Injury","authors":"X. Guannan, G. Xiujuan, L. Xin, Z. Yujue, L. Zhaoyong, C. Ximeng, L. Fengzhen","doi":"10.26420/austinjpathollabmed.2021.1032","DOIUrl":"https://doi.org/10.26420/austinjpathollabmed.2021.1032","url":null,"abstract":"Stroke is an acute cerebrovascular event associated with brain tissue injury, representing the most common cause of death. Thrombolysis and recanalization are the principal treatment modalities for ischemic stroke. Some patients experience cerebral ischemia-reperfusion injury following treatment. A previous study established that sesamol is effective in reducing risk factors for stroke. Here, we aimed to investigate the protective effect of sesame phenol on cerebral ischemia-reperfusion injury. A total of 72 SD rats were randomly divided into a sham group, cerebral ischemia-reperfusion (MCAO) group, cerebral ischemia-reperfusion with low dose sesame phenol (MCAO+sesamol A) group and cerebral ischemia-reperfusion with high dose sesame phenol (MCAO + sesamol B) group. After cerebral ischemia had been induced for 2h and reperfusion conducted for 24h, the volume of cerebral infarction, the degree of cerebral edema and the neurological deficit scores were tested. The results showed sesamin improved the neurological deficit score in a dose-dependent manner, reduced the volume of cerebral infarction, degree of cerebral edema. Prophylactic treatment with sesame phenol provided neuroprotective effects on cerebral ischemia-reperfusion injury.","PeriodicalId":8579,"journal":{"name":"Austin Journal of Pathology & Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84257094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-05-03DOI: 10.26420/AUSTINJPATHOLLABMED.2021.1031
S. Elaouni, S. Jebli, S. Sassi, Z. Bernoussi, A. Jahid, F. Zouidia, K. Znati
Cardiac smooth muscle tumors are rare; three different clinical settings for these tumors have been reported, including benign metastasizing leiomyoma from the uterus, primary cardiac leiomyoma and leiomyosarcoma, and intravenous cardiac extension of pelvic leiomyoma, which is the most common. We present a case of a 56-year-old woman with a benign metastasizing leiomyoma to the heart without associated pulmonary localization 15 years after endoscopic vaginal myomectomy of polymyomatous uterus. Immunohistochemical stains for H-Caldesmon, Desmin, and estrogen, progesterone receptors were positive, indicating a smooth muscle tumor of uterine origin. To our knowledge, this is only the fifth reported case of benign metastasizing leiomyoma to the heart with histological proof and the first case of earlier onset cardiac metastasis without pulmonary metastasis localization. It illustrates that benign metastasizing leiomyoma should be included in the differential diagnosis of cardiac tumors in patients with a history of surgery uterine leiomyoma perfectly benign.
{"title":"Benign Metastatic Leiomyoma: Unusual Heart Location","authors":"S. Elaouni, S. Jebli, S. Sassi, Z. Bernoussi, A. Jahid, F. Zouidia, K. Znati","doi":"10.26420/AUSTINJPATHOLLABMED.2021.1031","DOIUrl":"https://doi.org/10.26420/AUSTINJPATHOLLABMED.2021.1031","url":null,"abstract":"Cardiac smooth muscle tumors are rare; three different clinical settings for these tumors have been reported, including benign metastasizing leiomyoma from the uterus, primary cardiac leiomyoma and leiomyosarcoma, and intravenous cardiac extension of pelvic leiomyoma, which is the most common. We present a case of a 56-year-old woman with a benign metastasizing leiomyoma to the heart without associated pulmonary localization 15 years after endoscopic vaginal myomectomy of polymyomatous uterus. Immunohistochemical stains for H-Caldesmon, Desmin, and estrogen, progesterone receptors were positive, indicating a smooth muscle tumor of uterine origin. To our knowledge, this is only the fifth reported case of benign metastasizing leiomyoma to the heart with histological proof and the first case of earlier onset cardiac metastasis without pulmonary metastasis localization. It illustrates that benign metastasizing leiomyoma should be included in the differential diagnosis of cardiac tumors in patients with a history of surgery uterine leiomyoma perfectly benign.","PeriodicalId":8579,"journal":{"name":"Austin Journal of Pathology & Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90514050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-19DOI: 10.26420/AUSTINJPATHOLLABMED.2021.1028
Stavros K Archondakis
Objective: This study aims to present the experience of the implementation of the Bethesda system for reporting thyroid cytopathology in Alpha Prolipsis Medical Laboratories, a private medical laboratory located in Athens, Greece. Methods: 617 FNAs, performed since 2017, were included in the study. Reports were issued according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Aspirates were prepared with both conventional and liquid based cytology methods and were evaluated by two board certified cytopathologists. Diagnostic reproducibility and accuracy were evaluated. In 106 of these cases the cytological diagnosis was histologically confirmed. Results: Out of the 533 cases cytologically diagnosed as benign, 7 false negative results were obtained by FNA, whereas out of the 37 cytological diagnoses of probably or definitively malignant tumors one case was found histologically to be follicular adenoma. In this trial, the diagnostic accuracy of FNA was 96.7%, the specificity 94% and the sensitivity 87%. Conclusions: Our results show that FNA is a valuable examination technique in the preoperative evaluation of thyroid nodules. The integration of the 2017 Bethesda System for Reporting Thyroid Cytopathology is effective with an overall accuracy around 92%.
{"title":"Pre-Operative Cytological Evaluation of Thyroid Nodules According to the 2017 Bethesda System","authors":"Stavros K Archondakis","doi":"10.26420/AUSTINJPATHOLLABMED.2021.1028","DOIUrl":"https://doi.org/10.26420/AUSTINJPATHOLLABMED.2021.1028","url":null,"abstract":"Objective: This study aims to present the experience of the implementation of the Bethesda system for reporting thyroid cytopathology in Alpha Prolipsis Medical Laboratories, a private medical laboratory located in Athens, Greece. Methods: 617 FNAs, performed since 2017, were included in the study. Reports were issued according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Aspirates were prepared with both conventional and liquid based cytology methods and were evaluated by two board certified cytopathologists. Diagnostic reproducibility and accuracy were evaluated. In 106 of these cases the cytological diagnosis was histologically confirmed. Results: Out of the 533 cases cytologically diagnosed as benign, 7 false negative results were obtained by FNA, whereas out of the 37 cytological diagnoses of probably or definitively malignant tumors one case was found histologically to be follicular adenoma. In this trial, the diagnostic accuracy of FNA was 96.7%, the specificity 94% and the sensitivity 87%. Conclusions: Our results show that FNA is a valuable examination technique in the preoperative evaluation of thyroid nodules. The integration of the 2017 Bethesda System for Reporting Thyroid Cytopathology is effective with an overall accuracy around 92%.","PeriodicalId":8579,"journal":{"name":"Austin Journal of Pathology & Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78945791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-19DOI: 10.26420/AUSTINJPATHOLLABMED.2021.1029
Stavros K Archondakis
Objective: The objective of this study was examine the feasibility of developing a proficiency testing scheme for cytology labs wishing to be accredited according to ISO 15189:2012, by using videos captured by static telecytological applications. Methods: The current study was carried out on 252 adequate specimens of 157 patients, retrospectively selected from the department’s registry. In all cases, surgical excision followed the initial cytological diagnosis. Three diagnostic categories of cytological reports were used. All cases were confirmed by histological diagnosis of surgical specimens. One representative video from each case was transferred via file transfer protocol to password-protected accounts for remote review by 3 independent cytopathologists. In addition to diagnosis, reviewers commented on overall digital video quality. Contributor’s and reviewer’s diagnoses were collected, recorded and statistically evaluated. Results: Statistical evaluation of cytological diagnoses detected no significant difference in diagnostic accuracy between the diagnoses proffered on the basis of precaptured videos and conventional slides. The overall interobserver agreement was ranging from substantial to almost perfect. Conclusions: Videos production by static telecytology applications can be used as an alternative method for cytological diagnosis validation. It is a prompt and valid method for quality assessment and proficiency testing and can be integrated into daily workflow. Pre-captured videos can improve significantly small cytology departments’ quality indices. Precaptured videos can also be used for teleconsultation and second opinion purposes and improve the performance of the already existing static telecytology stations.
{"title":"Implementation of Precaptured Videos of Thyroid Fine-Needle Aspiration Cytology Specimens for External Quality Control Purposes","authors":"Stavros K Archondakis","doi":"10.26420/AUSTINJPATHOLLABMED.2021.1029","DOIUrl":"https://doi.org/10.26420/AUSTINJPATHOLLABMED.2021.1029","url":null,"abstract":"Objective: The objective of this study was examine the feasibility of developing a proficiency testing scheme for cytology labs wishing to be accredited according to ISO 15189:2012, by using videos captured by static telecytological applications. Methods: The current study was carried out on 252 adequate specimens of 157 patients, retrospectively selected from the department’s registry. In all cases, surgical excision followed the initial cytological diagnosis. Three diagnostic categories of cytological reports were used. All cases were confirmed by histological diagnosis of surgical specimens. One representative video from each case was transferred via file transfer protocol to password-protected accounts for remote review by 3 independent cytopathologists. In addition to diagnosis, reviewers commented on overall digital video quality. Contributor’s and reviewer’s diagnoses were collected, recorded and statistically evaluated. Results: Statistical evaluation of cytological diagnoses detected no significant difference in diagnostic accuracy between the diagnoses proffered on the basis of precaptured videos and conventional slides. The overall interobserver agreement was ranging from substantial to almost perfect. Conclusions: Videos production by static telecytology applications can be used as an alternative method for cytological diagnosis validation. It is a prompt and valid method for quality assessment and proficiency testing and can be integrated into daily workflow. Pre-captured videos can improve significantly small cytology departments’ quality indices. Precaptured videos can also be used for teleconsultation and second opinion purposes and improve the performance of the already existing static telecytology stations.","PeriodicalId":8579,"journal":{"name":"Austin Journal of Pathology & Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81646322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-02-06DOI: 10.26420/AUSTINJPATHOLLABMED.2019.1022
Ghazal Ma
Hepatospenic T-cell Lymphoma (HSTL) is rare & an aggressive type of extranodal lymphoma, the disease represent 1-2% of all peripheral T-cell lymphoma [1]. Its incidence might be underestimated, because the disease may mimic other conditions & the diagnosis is sometimes difficult to be established. It has been seen in patients receiving long-term immunosuppressive therapy, following AML or EBV positive lymphoproliferative disorders or during pregnancy. Several cases were reported recently in patients with crohns disease treated with azathioprine & anti-tumor necrosis factor agent infliximab. We present here peculiar scenario of young male adult known case of sickle cell disease patient whose been diagnosed with gammadelta-T-cell lymphoma, after quite long history of unexplained organomegaly & fever.
{"title":"Novel Hepatosplenic T-Cell Lymphoma in Young Adult with Sickle Cell Disease","authors":"Ghazal Ma","doi":"10.26420/AUSTINJPATHOLLABMED.2019.1022","DOIUrl":"https://doi.org/10.26420/AUSTINJPATHOLLABMED.2019.1022","url":null,"abstract":"Hepatospenic T-cell Lymphoma (HSTL) is rare & an aggressive type of extranodal lymphoma, the disease represent 1-2% of all peripheral T-cell lymphoma [1]. Its incidence might be underestimated, because the disease may mimic other conditions & the diagnosis is sometimes difficult to be established. It has been seen in patients receiving long-term immunosuppressive therapy, following AML or EBV positive lymphoproliferative disorders or during pregnancy. Several cases were reported recently in patients with crohns disease treated with azathioprine & anti-tumor necrosis factor agent infliximab. We present here peculiar scenario of young male adult known case of sickle cell disease patient whose been diagnosed with gammadelta-T-cell lymphoma, after quite long history of unexplained organomegaly & fever.","PeriodicalId":8579,"journal":{"name":"Austin Journal of Pathology & Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84681971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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