Central European Journal of Medicine最新文献_第6页

Sensitive quantification of mitochondrial mutation using new Taqman probes 新型Taqman探针对线粒体突变的敏感定量分析

Central European Journal of Medicine Pub Date : 2014-08-16 DOI: 10.2478/s11536-013-0325-8

Hue Truong, V. T. Nguyen, H. Nguyen, Van-Anh Pham, T. Phan

{"title":"Sensitive quantification of mitochondrial mutation using new Taqman probes","authors":"Hue Truong, V. T. Nguyen, H. Nguyen, Van-Anh Pham, T. Phan","doi":"10.2478/s11536-013-0325-8","DOIUrl":"https://doi.org/10.2478/s11536-013-0325-8","url":null,"abstract":"The A3243G mitochondrial mutation is the major cause of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). The severity of the disease is correlated with the heteroplasmy level of the mutation. Here we describe for the first time the validation of a real-time polymerase chain reaction (PCR) assay with Taqman locked nucleic acid (LNA) fluorescent (FAM for mutant, HEX for wild type) probes for quantification of heteroplasmy levels in a total of 18 family members from 5 Vietnamese MELAS patients carrying A3243G. Almost no background of FAM signals was detected in normal samples, indicating that the probes were allele-specific. Standard curves indicate sensitive detection at 0.1% mutants and high reliability with R2 > 0.985. The correlation line between measured % mutant and expected % mutant was highly reliable, with a slope of 0.993 and R2 of 0.998. All positive A3243G mutant samples pre-screened by PCR-restriction fragment length polymorphism (RFLP) were confirmed, and their heteroplasmy levels quantified to be from 3.68 to 80.85%. The heteroplasmy levels in patients were higher than in their family members and generally correlated well with the severity of their clinical symptoms. Overall, this work is the first demonstration of the application of LNA probes for sensitive and highly reliable quantification of heteroplasmy levels in human mitochondria.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-013-0325-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68852179","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: 2

Urinary incontinence in adolescent females with cystic fibrosis in Poland 波兰患有囊性纤维化的青春期女性尿失禁

Central European Journal of Medicine Pub Date : 2014-08-16 DOI: 10.2478/s11536-013-0331-x

A. Korzeniewska-Eksterowicz, I. Stelmach, W. Stelmach

{"title":"Urinary incontinence in adolescent females with cystic fibrosis in Poland","authors":"A. Korzeniewska-Eksterowicz, I. Stelmach, W. Stelmach","doi":"10.2478/s11536-013-0331-x","DOIUrl":"https://doi.org/10.2478/s11536-013-0331-x","url":null,"abstract":"ObjectivesThere have been many studies regarding urinary incontinence in cystic fibrosis females. However, no data concerning that issue was yet investigated in Poland.MethodsAn anonymous questionnaire was sent by mail to all Polish cystic fibrosis females 16 years of age and older.Results64 patients responded to the questionnaire, 44% reported having urinary incontinence. Median age of onset of incontinence was 14.5 years. There were no differences in age, Body Mass Index (BMI), Forced expiratory volume in 1 second (FEV1), Cystic Fibrosis-Related Diabetes and Percutaneous Endoscopic Gastrostomy between continent and incontinent respondents. Significant correlations between urinary incontinence and number of respiratory exacerbations, sexual activity, and constipation were observed. No relationships between frequency and severity of urinary incontinence and form of chest physiotherapy, BMI and FEV1 were identified. Most respondents declared that urinary incontinence affected their daily life and prevented them from chest physiotherapy.ConclusionsUrinary incontinence should be identified and regarded with high priority in cystic fibrosis; health professionals should be aware that it is their responsibility to actively initiate discussion with patients of that subject in early adolescence.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-013-0331-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68852270","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: 5

Long-term effects of ACE inhibitor on vascular remodelling ACE抑制剂对血管重构的长期影响

Central European Journal of Medicine Pub Date : 2014-08-16 DOI: 10.2478/s11536-013-0343-6

I. Tuleta, G. Bauriedel, S. Krämer, G. Nickenig, D. Skowasch

{"title":"Long-term effects of ACE inhibitor on vascular remodelling","authors":"I. Tuleta, G. Bauriedel, S. Krämer, G. Nickenig, D. Skowasch","doi":"10.2478/s11536-013-0343-6","DOIUrl":"https://doi.org/10.2478/s11536-013-0343-6","url":null,"abstract":"The long-term pathomorphological changes of the injured vessels under angiotensin-converting-enzyme (ACE) inhibitor are still not known. Therefore, we assessed the alternations of vascular architecture after three-month therapy with ACE inhibitor and identified new target cells for this medication. Carotid arteries of spontaneously hypertensive rats underwent balloon angioplasty. 14 days prior intervention, half of the animals was treated with ACE inhibitor. After three months of vascular trauma, the injured vessels were explored by histomorphology and immunohistochemistry for angiotensin-II receptor (AT1R), dendritic and HSP47+ cells. The neointimal growth decreased significantly only up to 28 days under ACE inhibitor. In contrast, the reductive effect of ACE inhibitor on media area persisted up to three months after intervention. A significant fraction of early neointimal cells was of a dendritic cell type. The relevant portion of these cells showed an expression of AT1R and HSP47. AT1R was present in 70% and HSP47 in 18% of all early neointimal cells in both groups. ACE inhibitor may at least temporarily diminish remodelling processes in injured vessels. The detection of AT1R on dendritic cells identifies these cells as important targets for therapeutic strategies involving modulation of the renin-angiotensin system.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-013-0343-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68852457","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

Analysis of the SMAD4 gene in asthma 哮喘患者SMAD4基因分析

Central European Journal of Medicine Pub Date : 2014-08-16 DOI: 10.2478/s11536-013-0316-9

A. Miletić, N. Petrović-Stanojević, D. Radojkovic, A. Nikolić

{"title":"Analysis of the SMAD4 gene in asthma","authors":"A. Miletić, N. Petrović-Stanojević, D. Radojkovic, A. Nikolić","doi":"10.2478/s11536-013-0316-9","DOIUrl":"https://doi.org/10.2478/s11536-013-0316-9","url":null,"abstract":"Considering the importance of the TGF-β signaling pathway for normal lung function and especially its roles in inflammation and tissue remodeling, key features of asthma pathology, it can be assumed that these molecules may harbor mutations in asthmatics. The aim of this study was to analyze the SMAD4 gene in patients with asthma. Analysis has encompassed exons 10, 11, 12 and 13 encoding the carboxy-terminal (MH2) domain of the SMAD4 protein, where mutations most frequently occur. The study included 50 patients (20 men and 30 women) with asthma aged between 17 and 73 years (average age 45.2±15.6 years). Polymerase chain reaction (PCR) was used to amplify exons 10, 11, 12 and 13 of the SMAD4 gene and the obtained PCR products were subjected to direct DNA sequencing. No nucleotide changes were found in any of the analyzed exons in either of the subjects. Based on the results of this study, it seems that mutations in the carboxy-terminal (MH2) domain of the SMAD4 are not present in asthmatic patients. Future research should be directed at the analysis of the complete gene, including regulatory elements, in order to resolve the exact role of SMAD4 in asthma.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-013-0316-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68851780","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: 1

Surgical treatment of stress urinary incontinence and vaginal prolapse for the woman with epispadia 尿道上膈压力性尿失禁和阴道脱垂的外科治疗

Central European Journal of Medicine Pub Date : 2014-08-16 DOI: 10.2478/s11536-013-0332-9

R. Aniulienė, P. Aniulis, Vitalija Druktenytė, B. Žilaitienė

{"title":"Surgical treatment of stress urinary incontinence and vaginal prolapse for the woman with epispadia","authors":"R. Aniulienė, P. Aniulis, Vitalija Druktenytė, B. Žilaitienė","doi":"10.2478/s11536-013-0332-9","DOIUrl":"https://doi.org/10.2478/s11536-013-0332-9","url":null,"abstract":"Patient K.L., 32 years old. Menses started at thirteen years old, C 5/28. Patient had two vaginal deliveries in 2004 and 2010. Dysplasia cervicis uteri CIN2-3 was diagnosed in 2007, subsequently diathermoconisation cervicis uteri was performed. The woman was born with epispadia — extrophia of urethra to abdominal wall, without pubic bone. At the age of 8 she underwent an operation in Moscow. During the operation the neck of the bladder was formed as well as urethra, which opens in vulva, place of clitoris. When she was 8 years old, her bladder capacity was 30 ml, in teenage years — 90 ml. The patient also reported history of recurrent urinary tract infections. 2011.08.02 Patient took medical advice in out patient department Kaunas university hospital with a complaint of stress urinary incontinence: when going, coughing, sneezing, doing exercises, having sex and at rest of time. Also it was the sexual intercourse problems with orgasm. She was urinating 8 times per day but none at night. Gynecological examination: absence of pubic bone, vulva is abnormal: absence of labium major and clitoris. Urethra opens into the place of clitoris. Front and back walls of vagina are moving down (POP-Q II-III stage prolapsed). Cervix of uterus is short, epithelised (after diathermoconisation). Uterus is normal in size, in retro-versio-flexio position. — without pathology. Sonography: internal genital organs without pathology. Boney, Valsalva test are positive, Ulmstein test negative. Urodynamic study revealed a bladder capacity of 134 ml, voided volume 173 ml. Pressure of detrusor — 10cmH2O. Compliancenormal, max flow rate 13,8 ml/s, voiding time 24 s. Spontaneous contractions of detrusor were not observed. Surgical treatment: 2011.10.10 TOT (tension obturator tape). Anterior and posterior colporrhaphy and perineoplastic was performed. There were no complications during and after surgery. On the 2 day after operation patient was released from hospital.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-013-0332-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68852282","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

Cytokine production by leukocytes in patients with periodontitis 牙周炎患者白细胞细胞因子的产生

Central European Journal of Medicine Pub Date : 2014-08-16 DOI: 10.2478/s11536-014-0699-2

J. Sakalauskienė, D. Giedrimienė, R. Kubilius, Alvydas Gleiznys, A. Vitkauskienė, Eglė Ivanauskienė, Kristina Puskunigyte

{"title":"Cytokine production by leukocytes in patients with periodontitis","authors":"J. Sakalauskienė, D. Giedrimienė, R. Kubilius, Alvydas Gleiznys, A. Vitkauskienė, Eglė Ivanauskienė, Kristina Puskunigyte","doi":"10.2478/s11536-014-0699-2","DOIUrl":"https://doi.org/10.2478/s11536-014-0699-2","url":null,"abstract":"In the present study, we investigated the relation between clinical parameters and levels of interleukin (IL) -4 and -5, and tumour necrosis factor-α (TNF-α) in the leukocyte incubation medium (LIM) obtained from 26 patients with chronic periodontitis (P) and 26 control group subjects (C). The levels of cytokines IL-4 and IL -5 produced by the LIM stimulated with non-opsonised E. coli were determined using the Enzyme-Linked Immunosorbent Assay (ELISA) method and the levels of TNF-α were evaluated by applying Enzyme Amplified Sensitivity Immunoassay (EASIA). TNF-α levels in stimulated LIM were strongly positively correlated with clinical parameters such as the pocket probing depths (PPD), the clinical attachment level (CAL), the bleeding on probing (BOP) and oral hygiene index (OHI), whereas the IL-4 and IL-5 levels in the analogous medium were strongly negatively correlated with the clinical parameters. IL-4 and IL-5 levels in stimulated LIM of P group patients were significantly lower, whereas TNF-α levels were significantly higher than that in analogous medium of C group subjects. These differences were associated with the severity of periodontal disease.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-014-0699-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68852815","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: 3

Editor’s preface for the special issue “ACUTE PANCREATITIS” 特刊“急性胰腺炎”编辑序言

Central European Journal of Medicine Pub Date : 2014-08-01 DOI: 10.2478/S11536-013-0346-3

J. Ramia

{"title":"Editor’s preface for the special issue “ACUTE PANCREATITIS”","authors":"J. Ramia","doi":"10.2478/S11536-013-0346-3","DOIUrl":"https://doi.org/10.2478/S11536-013-0346-3","url":null,"abstract":"Acute pancreatitis (AP) is one of the most common gastrointestinal disorders requiring acute hospitalization, with an annual incidence of 13 45 cases per 100,000 persons. Most of the cases are mild pancreatitis with low morbidity and mortality but severe AP is associated with mortality up to 30%. Many physicians are involved in the treatment of patients with AP (radiology, gastroenterology, surgery, endocrinology, ICU, ... ) and the need of multidisciplinary approach is crucial in AP. The information about AP in medical databases is large. The search “acute pancreatitis” in PubMed shows 26479 published papers. An up-to-date evidence-based treatment is needed to offer our patients the best treatment and reduce health costs but so much information sometimes does not help. The authors of this Special Issue have tried to review and update the most crucial aspects of AP: etiology, new classifications, biological and severity markers, use of antibiotics and nutrition, most recent surgical techniques, and information given in guidelines and evidence-based medicine. I thank their efforts to perform these papers. Cent. Eur. J. Med. • 9(4) • 2014 • 529 DOI: 10.2478/s11536-013-0346-3","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/S11536-013-0346-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68852506","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 markers of severity in acute pancreatitis 急性胰腺炎严重程度的生物学标志物

Central European Journal of Medicine Pub Date : 2014-08-01 DOI: 10.2478/s11536-014-0503-3

A. Pallisera, R. Jorba, J. Ramia, J. Rodríguez, H. Subirana, L. O. Zárate, J. González, S. Navarro

{"title":"Biological markers of severity in acute pancreatitis","authors":"A. Pallisera, R. Jorba, J. Ramia, J. Rodríguez, H. Subirana, L. O. Zárate, J. González, S. Navarro","doi":"10.2478/s11536-014-0503-3","DOIUrl":"https://doi.org/10.2478/s11536-014-0503-3","url":null,"abstract":"AbstractNone of the definitions of severity used in acute pancreatitis (AP) is ideal. Many of the scoring systems used to predict and measure its severity are complex, cumbersome and inaccurate.Aimto evaluate the usefulness of the most commonly used early markers for predicting severity, necrosis and mortality in patients with AP, and the need for surgery or Intensive Care Unit (ICU) admission.Material&methodsProspective study was performed from March 2009 to August 2010 based on patients diagnosed with AP seen consecutively at a secondary hospital. The early prognostic markers used were Apache II score ≥8 and Ranson’s score ≥3, RCP>120mg/l and Ht>44% in the first 24 hours.Results131 patients were prospectively enrolled. Median age was 63 years, 60% were men. The most frequent etiology of AP was biliary (68%). Fifteen patients were admitted to the ICU (11.6%) and five (3.9%) required surgery. Twelve patients (9.2%) had necrosis on CT. Four patients (3%) died, all of them in the Severe AP group. Only hematocrit>44 was predictor of mortality in univariate analysis.Conclusionhematocrit ≥ 44% was a significant predictor of mortality. The other indicators present limitations for predicting severity, necrosis and mortality, especially in the first 24 hours.","PeriodicalId":50709,"journal":{"name":"Central European Journal of Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2478/s11536-014-0503-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68853125","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: 4

Etiology of acute pancreatitis 急性胰腺炎的病因学

Central European Journal of Medicine Pub Date : 2014-08-01 DOI: 10.2478/s11536-013-0279-x

T. R. Gimenez, A. Calvo, J. G. Vicent

引用次数: 3

Evidence-based management of pancreatitis 基于证据的胰腺炎管理

Central European Journal of Medicine Pub Date : 2014-08-01 DOI: 10.2478/s11536-013-0282-2

N. Zambudio, K. Muffak, T. Villegas, A. Becerra, Y. Fundora, D. Garrote, A. Ferrón

引用次数: 0