Croatian Medical Journal最新文献_第10页

Interleukin-2 gene methylation levels and interleukin-2 levels associated with environmental exposure as risk biomarkers for preterm birth. 白细胞介素-2基因甲基化水平和与环境暴露相关的白细胞介蛋白-2水平是早产的风险生物标志物。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Aleksandra Fučić, Jelena Knežević, Jure Krasić, Denis Polančec, Nino Sinčić, Nada Sindičić Dessardo, Mirta Starčević, Vedrana Guszak, Marcello Ceppi, Marco Bruzzone

{"title":"Interleukin-2 gene methylation levels and interleukin-2 levels associated with environmental exposure as risk biomarkers for preterm birth.","authors":"Aleksandra Fučić, Jelena Knežević, Jure Krasić, Denis Polančec, Nino Sinčić, Nada Sindičić Dessardo, Mirta Starčević, Vedrana Guszak, Marcello Ceppi, Marco Bruzzone","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To compare interleukin-2 levels (IL-2) and IL-2 gene site 1 methylation levels between preterm newborns (PN) and full-term newborns (FN) and investigate their association with the environmental exposure of their mothers during pregnancy.Methods: IL-2 and IL-2 gene site 1 methylation levels were assessed in 50 PN and 56 FN. Newborns' mothers filled in questionnaires about their living and occupational environments, habits, diets, and hobbies.Results: The mothers of PN were significantly more frequently agrarian/rural residents than the mothers of FN. PN had significantly higher IL-2 levels, and significantly lower methylation of IL-2 gene site 1 levels than FN.Conclusion: IL-2 levels, hypomethylation of the IL-2 gene site 1, and the mother's rural residence (probably due to pesticide exposure) were predictive biomarkers for preterm birth. For the first time, we present the reference values for the methylation of IL-2 gene site 1 in PN and FN, which can be used in the clinical setting and biomonitoring.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Markers of cardiac injury in patients with liver cirrhosis. 肝硬化患者心脏损伤的标志物。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Stjepan Šimić, Tomo Svaguša, Ivica Grgurević, Sanda Mustapić, Marko Žarak, Ingrid Prkačin

{"title":"Markers of cardiac injury in patients with liver cirrhosis.","authors":"Stjepan Šimić, Tomo Svaguša, Ivica Grgurević, Sanda Mustapić, Marko Žarak, Ingrid Prkačin","doi":"","DOIUrl":"","url":null,"abstract":"Liver cirrhosis is an increasing public health problem and a major cause of morbidity and mortality. Accordingly, cirrhotic cardiomyopathy, a frequently underdiagnosed condition, is becoming a growing health problem. In the last 20 years, cardioselective biomarkers have been investigated for their diagnostic and prognostic properties for numerous conditions. The aim of this article is to review the literature on the relationship between the most commonly used cardioselective biomarkers (cardiac troponins I and T, N-terminal pro-B-type natriuretic peptide, brain natriuretic peptide, and heart-type fatty-acid binding protein) and the presence, functional stage, and clinical outcomes of liver cirrhosis. Elevated plasma levels of these biomarkers have been reported in patients with liver cirrhosis, and there is mounting evidence on their predictive value for clinical outcomes in this disease. In addition, elevated plasma levels of these biomarkers have been reported in patients before, during, and after liver transplantation, but in fewer studies. Due to their predictive value for clinical outcomes, we advocate the use of these markers in patients with liver cirrhosis and cirrhotic cardiomyopathy, as well as in candidates for liver transplant.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Time to treat the climate and nature crisis as one indivisible global health emergency. 是时候将气候和自然危机视为一个不可分割的全球卫生紧急事件了。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Kamran Abbasi, Parveen Ali, Virginia Barbour, Thomas Benfield, Kirsten Bibbins-Domingo, Stephen Hancocks, Richard Horton, Laurie Laybourn-Langton, Robert Mash, Peush Sahni, Wadeia Mohammad Sharief, Paul Yonga, Chris Zielinski

引用次数: 0

Hospitalists: the missing link in complex patient care. 住院医师：复杂病人护理中缺失的环节。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Aleksandar Džakula, Karmen Lončarek, Leif Hass, Dorja Vočanec

引用次数: 0

Increased carotid intima-media thickness is associated with higher odds of unfavorable outcomes in adults without advanced vascular diseases presenting with non-severe COVID-19 pneumonia: a nested case-control study. 颈动脉内膜-中膜厚度增加与非严重新冠肺炎肺炎的无晚期血管疾病成年人不良结局的几率较高相关：一项嵌套病例对照研究。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Miljenko Crnjaković, Sabina Deveđija, Gorana Vukorepa, Stela Rutović, Davor Sporiš, Vladimir Trkulja

{"title":"Increased carotid intima-media thickness is associated with higher odds of unfavorable outcomes in adults without advanced vascular diseases presenting with non-severe COVID-19 pneumonia: a nested case-control study.","authors":"Miljenko Crnjaković, Sabina Deveđija, Gorana Vukorepa, Stela Rutović, Davor Sporiš, Vladimir Trkulja","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To evaluate the association between carotid intima-media thickness (CIMT) at hospital admission and unfavorable outcomes in adults without advanced vascular diseases presenting with non-severe COVID-19 pneumonia to assess the feasibility of evaluating CIMT as a risk stratification aid in this setting.Methods: This proof-of-concept nested case-control study enrolled consecutive non-vaccinated adults free of advanced vascular diseases presenting with verified non-severe COVID-19 pneumonia between December 2020 and June 2021. CIMT was measured at admission, and patients were managed in line with the national Ministry of Health guidelines. Those who died or required mechanical ventilation (MV) during the index hospital stay were considered cases and were matched (entropy balancing, exact matching) on a set of covariates to survivors not requiring MV (controls). Frequentist and Bayesian logistic models were fitted to the case status.Results: The study enrolled 207 patients: 27 (13%) cases and 180 controls. All were retained in the analysis after entropy balancing, while 27 cases were exactly matched to 99 controls. Higher CIMT at the proximal internal carotid artery (both left and right) was consistently associated with higher odds of being a case: all odds ratio point-estimates were ≥1.50 with lower limits of the 99% confidence intervals/credibility intervals ≥1.00 with two-sided probabilities of OR>1.00 greater than 99.5%. The susceptibility of the estimates to unmeasured confounding was low.Conclusion: This study supports the feasibility of CIMT as a risk stratification aid in adults free of advanced vascular disease presenting with non-severe COVID-19 pneumonia.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The growing importance of genetics in human reproduction and development. 遗传学在人类生殖和发展中日益重要。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Davor Ježek

引用次数: 0

Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report. 一个常染色体显性遗传性听力损失家族中发现的TECTA c.6183G>T变体的临床相关性：一例报告。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Ivona Sansović, Ana-Maria Meašić, Ljubica Odak, Mijana Kero

{"title":"Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.","authors":"Ivona Sansović, Ana-Maria Meašić, Ljubica Odak, Mijana Kero","doi":"","DOIUrl":"","url":null,"abstract":"Missense variants in the α-tectorin gene (TECTA) cause autosomal dominant (DFNA8/A12) non-syndromic hearing loss (ADNSHL) and account for a considerable number of ADNSHL cases. According to genotype-phenotype correlation studies, missense variants in the zona pellucida (ZP) domain of α-tectorin predominantly cause mid-frequency HL. Here, we report on clinical exome sequencing results in a large family with early-onset, sensorineural, moderate-to-severe mid-frequency HL. We identified one heterozygous c.6183G>T variant near the ZP domain of TECTA segregating in five family members. This variant was previously reported as a variant of uncertain significance in a family with ADNSHL. On the basis of specific segregation in the currently studied family and the general guidelines of the American College of Medical Genetics and Genomics, we argue that the TECTA c.6183G>T variant should be considered a likely pathogenic cause of ADNSHL. This report adds to the knowledge on the rare c.6183G>T missense variant, which affects the immediate vicinity of the ZP domain in TECTA. Our findings highlight the importance of clinical evaluation in patients with familial HL and of studying family segregation when assessing the pathogenicity of a variant.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Does switching from coated colchicine to compressed colchicine improves treatment response in patients with familial Mediterranean fever? 从包被秋水仙碱改为压缩秋水仙碱是否能改善家族性地中海热患者的治疗反应？

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Nimet Öner, Elif Çelikel, Zahide Ekici Tekin, Vildan Güngörer, Tuba Kurt, Müge Sezer, Nilüfer Tekgöz, Cüneyt Karagöl, Serkan Coşkun, Melike Mehveş Kaplan, Merve Cansu Polat, Banu Çelikel Acar

{"title":"Does switching from coated colchicine to compressed colchicine improves treatment response in patients with familial Mediterranean fever?","authors":"Nimet Öner, Elif Çelikel, Zahide Ekici Tekin, Vildan Güngörer, Tuba Kurt, Müge Sezer, Nilüfer Tekgöz, Cüneyt Karagöl, Serkan Coşkun, Melike Mehveş Kaplan, Merve Cansu Polat, Banu Çelikel Acar","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To evaluate the treatment response to compressed colchicine tablets in familial Mediterranean fever (FMF) patients with resistance or intolerance to coated colchicine. The secondary aim was to determine the demographic and clinical characteristics of responders to compressed colchicine.Methods: We retrospectively reviewed the medical records of 1574 pediatric patients with FMF treated at Ankara Bilkent City Hospital. Sixty-one patients did not respond to coated colchicine and were switched to compressed colchicine. In these patients, the number of attacks and the International Severity Score for FMF (ISSF) during the 6 months before and 3, 6, 9, 12, and 24 months after switching from coated colchicine to compressed colchicine were recorded.Results: Twelve of 61 patients (19.7%) who were switched to compressed colchicine due to intolerance responded to treatment. Of the 49/61 patients (80.3%) who were switched due to uncontrolled attacks and persistent subclinical inflammation, 25 responded to treatment. The frequency of attacks and ISSF decreased after switching. At the end of the two-year follow-up, 42 patients responded to compressed colchicine, and 19 patients received compressed colchicine plus interleukin-1-targeting drugs.Conclusions: Compressed colchicine was shown to be a useful treatment option before initiating biological agents in non-responders to coated colchicine, especially those with side effects.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pathohistological features of the aging human lacrimal gland. 衰老人泪腺的病理组织学特征。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Koraljka Hat, Snježana Kaštelan, Ana Planinić, Danko Muller, Davor Ježek

{"title":"Pathohistological features of the aging human lacrimal gland.","authors":"Koraljka Hat, Snježana Kaštelan, Ana Planinić, Danko Muller, Davor Ježek","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To assess sex-related differences in the pathohistological features of the human lacrimal gland and to investigate age-related and sex-related differences in stereologically measured volume density of the secretory tissue, connective tissue, and fat.Methods: We performed an observational analysis of acinar atrophy, periacinar fibrosis, periductal fibrosis, ductal dilation, ductal proliferation, fatty infiltration, and lymphocyte infiltration of hematoxylin and eosin-stained lacrimal gland samples from 81 cornea donors. Stereological analysis of the volume density of the secretory tissue, connective tissue, and fat was performed on samples from 66 donors.Results: Up to 69% of all samples showed degenerative changes. Female samples had a higher frequency of all observed degenerative changes, except ductal dilation. While acinar atrophy was significantly more prevalent in women, ductal dilation was significantly more prevalent in men. Stereological analysis indicated lower portions of acini and higher portions of connective tissue and fat, as well as a more pronounced age-related progression of degenerative changes in female samples.Conclusion: Female lacrimal glands are more susceptible to degeneration, and this susceptibility could play an important role in the higher incidence of dry eye disease in older women. A further stereological analysis using more samples from younger age groups is needed to elucidate age-related and sex-related differences in the structure of the human lacrimal gland and their impact on dry eye disease.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report. 遗传性新型KMT5B变体引起的神经发育障碍：病例报告。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2023-10-31

Ljubica Odak, Katarina Vulin, Ana-Maria Meašić, Lara Šamadan, Ana Tripalo Batoš

{"title":"Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.","authors":"Ljubica Odak, Katarina Vulin, Ana-Maria Meašić, Lara Šamadan, Ana Tripalo Batoš","doi":"","DOIUrl":"","url":null,"abstract":"Neurodevelopmental disorders are a large group of disorders that affect ~ 3% of children and represent a serious health problem worldwide. Their etiology is multifactorial and includes genetic, epigenetic, and environmental causes. Mounting evidence shows the importance of genetic causes, especially genes involved in the central nervous system development. As recently discovered, the KMT5B gene is related to abnormal activities of the enzymes that regulate histone activity and gene expression during brain development. Pathogenic KMT5B gene variants lead to autosomal dominant, intellectual developmental disorder 51 (OMIM # 617788). Also, reports on patients with additional features suggest that the KMT5B gene alterations lead to multisystem involvement. Here, we report on a male patient with a severe neurodevelopmental disorder caused by a novel KMT5B gene variant inherited from his mother. The patient had severe intellectual disability, absent speech, marked autistic behavior, attention deficit hyperactivity disorder, and different clinical features, including thoracic scoliosis, dysmorphic facial features, and tall stature. In contrast, his mother, with the same KMT5B variant, had mild intellectual disability and some autistic traits (stereotype hand movement). We elucidated pathogenetic mechanisms that could influence phenotype characteristics. Our findings emphasize the importance of a comprehensive clinical and molecular approach to these patients in order to provide optimal health care.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0