Molecular and experimental biology in medicine最新文献_第2页

A new case of intragenicdeletion of the TCF4 gene withoutfeatures of Pitt-Hopkins syndrome 无皮特-霍普金斯综合征特征的TCF4基因基因内缺失新病例

Molecular and experimental biology in medicine Pub Date : 2020-12-18 DOI: 10.33602/mebm.3.2.8

L. M. Pohovski, A. Bobinec, Ana-Maria Meašić, I. Sansović, I. Barišić

{"title":"A new case of intragenic\u0000deletion of the TCF4 gene without\u0000features of Pitt-Hopkins syndrome","authors":"L. M. Pohovski, A. Bobinec, Ana-Maria Meašić, I. Sansović, I. Barišić","doi":"10.33602/mebm.3.2.8","DOIUrl":"https://doi.org/10.33602/mebm.3.2.8","url":null,"abstract":"Different genomic\u0000alterations affecting the TCF4 gene are usually associated with Pitt-Hopkins\u0000syndrome (PTHS). This syndrome is a rare neurodevelopmental genetic disorder\u0000characterized by distinctive facial features, abnormal breathing, psychomotor\u0000delay and severe intellectual disability (ID). The genomic alterations include\u0000whole or partial gene deletion; balanced translocation disrupting the coding\u0000sequence of the gene; and intragenic variants. The TCF4 gene encodes a basic\u0000helix-loop-helix (bHLH) transcription factor 4. Using alternative promoters,\u0000TCF4 can be transcribed from a number of alternative initial exons, allowing\u0000for translation of variable protein isoforms containing different functional\u0000domains. Full-length TCF4 has two activation domains (AD1 and AD2) that are\u0000thought to modulate transcriptional activity, a NLS domain (nuclear\u0000localization signal) that controls subcellular localization and bHLH domain.\u0000Typical PTHS patients have aberration localized between exons 9 and 18 of the\u0000gene. On the other hand, variants affecting the first protein coding exons give\u0000rise to mild non-syndromic ID. We present a ten-year-old girl with psychomotor\u0000delay and mild ID without the typical features of PTHS. Genetic investigation\u0000using array-based comparative genomic hybridization, revealed a 73.45 kb\u0000deletion within the TCF4 gene. The deletion encompassing only exon 6\u0000(NM_001083962). This deletion was not detected in both parents. Cytogenetic\u0000analysis excluded balanced translocation disrupting the coding sequence of the\u0000gene. To the best of our knowledge, this is the first case described in\u0000literature involving only exon 6. The findings in our patients support the\u0000notion that position of the alteration in TCF4 is relevant to the phenotype.\u0000Reporting our case we want to contribute to the phenotype-genotype correlation\u0000in patients with intragenomic deletion of TCF4 gene.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"361 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131769300","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}

引用次数: 0

Cytogenomics of murine melanoma cell lines C57/B1 and B16-F0 小鼠黑色素瘤细胞系C57/B1和B16-F0的细胞基因组学研究

Molecular and experimental biology in medicine Pub Date : 2020-12-18 DOI: 10.33602/mebm.3.2.5

M. Manferrari, Martina Rinčić, T. Liehr, S. Azawi

引用次数: 0

Routine procedures and preventive measures in tissue banking and cell therapy during COVID-19 pandemic COVID-19大流行期间组织库和细胞治疗的常规程序和预防措施

Molecular and experimental biology in medicine Pub Date : 2020-12-16 DOI: 10.33602/mebm.3.2.7

M. Zekušić, Marina Bujić Mihica, Anamarija Jularić, Tamara Dolenec, M. Skoko, Ivana Vrgoc Zimic, T. Vučemilo

引用次数: 0

Comparison of three methods for detection of anti-SARS-CoV-2 antibodies 三种检测sars - cov -2抗体方法的比较

Molecular and experimental biology in medicine Pub Date : 2020-12-15 DOI: 10.33602/mebm.3.2.6

Julijana Marinac, Hana Breyer Priselac, P. Korać

{"title":"Comparison of three methods for detection of anti-SARS-CoV-2 antibodies","authors":"Julijana Marinac, Hana Breyer Priselac, P. Korać","doi":"10.33602/mebm.3.2.6","DOIUrl":"https://doi.org/10.33602/mebm.3.2.6","url":null,"abstract":"A novel positive-sense\u0000RNA virus named Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)\u0000was identified in December 2019 in China. It is a systemic disease that\u0000includes severe respiratory distress, coronavirus disease 19 (Covid-19). The\u0000primary way of transmitting this virus is person-to-person contact via respiratory\u0000droplets, but it can also be transmitted by contaminated surfaces. Symptoms\u0000range from mild to severe, and the virus spreads quickly. On 11 March 2020\u0000Covid-19 was declared a pandemic by the World Health Organization. The standard\u0000way to identify the presence of the virus is to detect its genome using\u0000real-time reverse transcriptase polymerase chain reaction (RT-PCR). It can be\u0000applied to respiratory tract samples such as nasopharyngeal swabs, sputum and\u0000bronchoalveolar lavage. In order to identify contact with the virus and\u0000immunological response of the individual, tests based on immunoassays were\u0000developed. Many of those tests were produced in short periods of time and they\u0000mostly differ on the sample that can be used (serum, plasma or whole blood), complexity\u0000and/or expense, and the class of the antibody they detect. The reliability of\u0000such tests is of high importance for epidemiological surveys as well as for the\u0000development of a vaccine. The aim of this study was to compare three\u0000commercially available immunoassay tests. Our results show that different\u0000serological tests have different sensitivity and specificity, and that the\u0000rapid option, which is the easiest to perform and has the lowest cost, provides\u0000the least reliable results.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"175 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128351269","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}

引用次数: 0

Biological features of SARS-CoV-2 and current approaches to antiviral therapy and vaccination SARS-CoV-2的生物学特性和目前抗病毒治疗和疫苗接种的方法

Molecular and experimental biology in medicine Pub Date : 2020-12-10 DOI: 10.33602/mebm.3.2.1

S. Z. Lepej, P. Korać, D. Škorić, Margarita Batovic, Paula Gršković, Valerija Begić, Suzana Harabajsa, L. Radmanić, Petra Šimičić

引用次数: 0

The role of HLA typing in rheumatic diseases HLA分型在风湿病中的作用

Molecular and experimental biology in medicine Pub Date : 2020-06-01 DOI: 10.33602/mebm.3.1.1

L. Mascaretti, E. Bevilacqua

引用次数: 0

Comparison of ELISA and chemiluminescence immunoassay methods for quantification of human Placental growth factor in serum ELISA与化学发光免疫分析法测定血清中人胎盘生长因子含量的比较

Molecular and experimental biology in medicine Pub Date : 2020-05-29 DOI: 10.33602/mebm.3.1.10

Teodora Brnjarchevska Blazhevska, K. Skeparovska, B. Ismaili, Olgica Sibinovska, Meri Kirijas, Gorjan Milanovski, Boban Dobrevski, A. Petlichkovski

{"title":"Comparison of ELISA and chemiluminescence immunoassay methods for quantification of human Placental growth factor in serum","authors":"Teodora Brnjarchevska Blazhevska, K. Skeparovska, B. Ismaili, Olgica Sibinovska, Meri Kirijas, Gorjan Milanovski, Boban Dobrevski, A. Petlichkovski","doi":"10.33602/mebm.3.1.10","DOIUrl":"https://doi.org/10.33602/mebm.3.1.10","url":null,"abstract":"Placental growth factor (PlGF) is crucial during placental development in early\u0000pregnancy. Several studies in pregnancies with complications such as\u0000preeclampsia or small for gestational age neonates find that PlGF levels are\u0000significantly lower in the first trimester, which implies that the\u0000concentration of PlGF could be used as an early screening biomarker for these\u0000conditions. This study aimed to compare the performance of chemiluminescence\u0000immunoassay (CLIA) and enzyme-linked immunosorbent assay (ELISA) for the\u0000quantification of human PlGF in serum. This is a comparative study on 88\u0000pregnant women in the first trimester subjected to measurement of PlGF in serum\u0000using two commercially available kits: Human PlGF Quantikine HS ELISA (R&D\u0000Systems) and PlGF CLIA (Snibe). The overall coefficient of correlation between\u0000the tests was 0.93. When the cut-off value of 40 pg/mL was applied, it dropped\u0000significantly to 0.50 towards the lower values, while remaining an excellent\u00000.91 in the group with higher concentrations of PlGF. While R&D Systems’s\u0000ELISA seems to have better sensitivity, it is not very convenient to use for a\u0000small number of samples. Snibe’s CLIA automated method is user-friendly, fast\u0000and powerful. Both tests show excellent performance when indicating risk-free\u0000pregnancies.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130461307","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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AML in remission, originating from MDS-RARS-T, expands the underlying JAK2 V617Fmutated clone 源自MDS-RARS-T的缓解期AML扩展了潜在的JAK2 V617Fmutated克隆

Molecular and experimental biology in medicine Pub Date : 2020-05-29 DOI: 10.33602/mebm.3.1.8

K. Tupek, Anja Leljak, Ana Livun, Ž. Prka, V. Pejsa, R. Kušec

引用次数: 0

Neoangiogenesis andmicrovascular density in myelodysplastic syndrome – a single center experience 骨髓增生异常综合征的新生血管生成和微血管密度-单中心经验

Molecular and experimental biology in medicine Pub Date : 2019-10-05 DOI: 10.33602/mebm.2.2.7

A. Skrtic, N. Gredelj-Šimec, I. Kardum‐Skelin, E. Lovrić, Darija Mužinić, S. Gašparov, S. O. Kolonić

{"title":"Neoangiogenesis and\u0000microvascular density in myelodysplastic syndrome – a single center experience","authors":"A. Skrtic, N. Gredelj-Šimec, I. Kardum‐Skelin, E. Lovrić, Darija Mužinić, S. Gašparov, S. O. Kolonić","doi":"10.33602/mebm.2.2.7","DOIUrl":"https://doi.org/10.33602/mebm.2.2.7","url":null,"abstract":"Angiogenesis has a significant part in the pathogenesis of hematological malignancies, such as leukemia and myelodysplastic syndromes (MDS). We evaluated the relationship between morphometric, morphological and clinical features of MDS. Blood vessels of 31 newly diagnosed MDS bone marrow biopsies were immunohistochemically analyzed using CD34 and compared with 8 controls and 13 chronic myelomonocytic leukemias (CMML). MDS were categorized into three risk groups: low-, intermediate- and high-risk MDS. Microvascular density (MVD) and major and minor axis length were analyzed using digital image analysis. Overall, MDS had significantly higher MVD and lower minor axis values than the control group and CMML. High-risk MDS had significantly higher MVD compared to the controls, while all MDS risk groups had lower minor axis values than the control group. Increased minor and major axis values were prognostic predictors of shorter overall survival in all MDS risk groups and CMML patients. In conclusion, angiogenesis presents one of the essential factors in MDS pathogenesis and progression characterized by descriptive marrow microvascular network transformation. The size-related features are powerful indicators of survival in MDS patients.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132605925","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}

引用次数: 0

Association ofbiomarkers in pre-invasive and invasive cervical carcinoma 浸润前和浸润性宫颈癌生物标志物的相关性研究

Molecular and experimental biology in medicine Pub Date : 2019-10-05 DOI: 10.33602/mebm.2.2.3

Kristina Meljanac Salopek, S. Jukić, D. Babić

{"title":"Association of\u0000biomarkers in pre-invasive and invasive cervical carcinoma","authors":"Kristina Meljanac Salopek, S. Jukić, D. Babić","doi":"10.33602/mebm.2.2.3","DOIUrl":"https://doi.org/10.33602/mebm.2.2.3","url":null,"abstract":"Introduction: Various reports\u0000suggest linkage of protein expression to HPV status in cervical carcinomas. The\u0000aim of this study was to determine a possible association between HPV type,\u0000protein expression and DNA content in both preinvasive (CIN III) and invasive\u0000squamous cell carcinoma (SCC) of the cervix, as well as differences between the\u0000studied groups in these parameters. Materials and methods:\u0000Sections of formalin-fixed paraffin-embedded tumor tissue from 47 cases of CIN\u0000III and 60 cases of invasive SCC of the cervix were subjected to HPV genotyping\u0000using LiPA (Line immuno-probe assay) and Flow cytometry for DNA content\u0000analysis. Also, immunohistochemical staining was performed. Obtained data were\u0000analyzed in SPSS using the Chi square test.\u0000Results: The major difference\u0000(p=0.007) between CIN III and invasive SCC of the cervix was found in DNA\u0000content - more aneuploid and tetraploid cases in invasive SCC of the cervix\u0000compared to CIN III. Although we observed a similar distribution of studied\u0000parameters in both groups, no statistically significant association was found\u0000between these parameters, except for p53 and pRb (p=0.018).\u0000Conclusion: The studied groups differ in DNA\u0000content. A significant association between analyzed parameters was observed in\u0000Invasive SCC of the cervix between p53 and pRb expression.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116694888","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}

引用次数: 0