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1.
BMC Infect Dis ; 24(1): 281, 2024 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-38439047

RESUMEN

BACKGROUND: The evolution of SARS-CoV-2 has been observed from the very beginning of the fight against COVID-19, some mutations are indicators of potentially dangerous variants of the virus. However, there is no clear association between the genetic variants of SARS-CoV-2 and the severity of COVID-19. We aimed to analyze the genetic variability of RdRp in correlation with different courses of COVID-19. RESULTS: The prospective study included 77 samples of SARS-CoV-2 isolated from outpatients (1st degree of severity) and hospitalized patients (2nd, 3rd and 4th degree of severity). The retrospective analyses included 15,898,266 cases of SARS-CoV-2 genome sequences deposited in the GISAID repository. Single-nucleotide variants were identified based on the four sequenced amplified fragments of SARS-CoV-2. The analysis of the results was performed using appropriate statistical methods, with p < 0.05, considered statistically significant. Additionally, logistic regression analysis was performed to predict the strongest determinants of the observed relationships. The number of mutations was positively correlated with the severity of the COVID-19, and older male patients. We detected four mutations that significantly increased the risk of hospitalization of COVID-19 patients (14676C > T, 14697C > T, 15096 T > C, and 15279C > T), while the 15240C > T mutation was common among strains isolated from outpatients. The selected mutations were searched worldwide in the GISAID database, their presence was correlated with the severity of COVID-19. CONCLUSION: Identified mutations have the potential to be used to assess the increased risk of hospitalization in COVID-19 positive patients. Experimental studies and extensive epidemiological data are needed to investigate the association between individual mutations and the severity of COVID-19.


Asunto(s)
COVID-19 , SARS-CoV-2 , Humanos , Masculino , SARS-CoV-2/genética , COVID-19/epidemiología , Genotipo , Estudios Prospectivos , Estudios Retrospectivos , Pacientes Ambulatorios , ARN Polimerasa Dependiente del ARN
2.
Pancreatology ; 22(6): 713-718, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35773178

RESUMEN

BACKGROUND: Genetic alterations in digestive enzymes have been associated with chronic pancreatitis (CP). Recently, chymotrypsin like elastase 3B (CELA3B) emerged as a novel risk gene. Thus, we evaluated CELA3B in two European cohorts with CP. METHODS: We analyzed all 8 CELA3B exons in 550 German non-alcoholic CP (NACP) patients and in 241 German controls by targeted DNA sequencing. In addition, we analyzed exons 6 and 7 by Sanger sequencing and the c.129+1G>A variant by melting curve analysis in 1078 further German controls. As replication cohort, we investigated up to 243 non-German European NACP patients and up to 1665 controls originating from Poland, Hungary, and Sweden. We assessed the cellular secretion and the elastase activity of recombinant CELA3B variants. RESULTS: In the German discovery cohort, we detected a splice-site variant in intron 2, c.129+1G>A, in 9/550 (1.64%) CP patients and in 5/1319 (0.38%) controls (P=0.007, OR=4.4, 95% CI=1.5-13.0). In the European replication cohort, this variant was also enriched in patients (9/178 [5.06%]) versus controls (13/1247 [1.04%]) (P=0.001, OR=5.1, 95% CI=2.1-12.0). We did not find the two previously reported codon 90 variants, p.R90C and p.R90L. CONCLUSIONS: Our data indicate that CELA3B is a susceptibility gene for CP. In contrast to previous reports suggesting that increased CELA3B activity is associated with CP risk, the splice-site variant identified here is predicted to cause diminished CELA3B expression. How reduced CELA3B function predisposes to pancreatitis remains to be elucidated.


Asunto(s)
Quimotripsina , Elastasa Pancreática/genética , Pancreatitis Crónica , Quimotripsina/genética , Predisposición Genética a la Enfermedad , Humanos , Mutación , Elastasa Pancreática/metabolismo , Pancreatitis Crónica/metabolismo
3.
Pancreatology ; 22(5): 564-571, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35589511

RESUMEN

OBJECTIVE: Non-alcoholic chronic pancreatitis (NACP) frequently develops in the setting of genetic susceptibility associated with alterations in genes that are highly expressed in the pancreas. However, the genetic basis of NACP remains unresolved in a significant number of patients warranting a search for further risk genes. DESIGN: We analyzed CUZD1, which encodes the CUB and zona pellucida-like domains 1 protein that is found in high levels in pancreatic acinar cells. We sequenced the coding region in 1163 European patients and 2018 European controls. In addition, we analyzed 297 patients and 1070 controls from Japan. We analyzed secretion of wild-type and mutant CUZD1 from transfected cells using Western blotting. RESULTS: In the European cohort, we detected 30 non-synonymous variants. Using different prediction tools (SIFT, CADD, PROVEAN, PredictSNP) or the combination of these tools, we found accumulation of predicted deleterious variants in patients (p-value range 0.002-0.013; OR range 3.1-5.2). No association was found in the Japanese cohort, in which 13 non-synonymous variants were detected. Functional studies revealed >50% reduced secretion of 7 variants, however, these variants were not significantly enriched in European CP patients. CONCLUSION: Our data indicate that CUZD1 might be a novel susceptibility gene for NACP. How these variants predispose to pancreatitis remains to be elucidated.


Asunto(s)
Proteínas de la Membrana , Pancreatitis Crónica , Zona Pelúcida , Células Acinares/metabolismo , Western Blotting , Predisposición Genética a la Enfermedad , Humanos , Proteínas de la Membrana/genética , Pancreatitis Crónica/genética , Pancreatitis Crónica/patología , Zona Pelúcida/metabolismo , Zona Pelúcida/patología
4.
Int J Mol Sci ; 23(5)2022 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-35269667

RESUMEN

Betulin and its derivatives, 28-propyne derivative EB5 and 29-diethyl phosphonate analog ECH147, are promising compounds in anti-tumor activity studies. However, their effect on kidney cells has not yet been studied. The study aimed to determine whether betulin and its derivatives-EB5 and ECH147-influence the viability and oxidative status of human renal proximal tubule epithelial cells (RPTECs). The total antioxidant capacity of cells (TEAC), lipid peroxidation product malondialdehyde (MDA) level, and activity of antioxidant enzymes (SOD, CAT, and GPX) were evaluated. Additionally, the mRNA level of genes encoding antioxidant enzymes was assessed. Cisplatin and 5-fluorouracil were used as reference substances. Betulin and its derivatives affected the viability and antioxidant systems of RPTECs. Betulin strongly reduced TEAC in a concentration-dependent manner. All tested compounds caused an increase in MDA levels. The activity of SOD, CAT, and GPX, and the mRNA profiles of genes encoding antioxidant enzymes depended on the tested compound and its concentration. Betulin showed an cisplatin-like effect, indicating its nephrotoxic potential. Betulin derivatives EB5 and ECH147 showed different impacts on the antioxidant system, which gives hope that these compounds will not cause severe consequences for the kidneys in vivo.


Asunto(s)
Antioxidantes , Cisplatino , Antioxidantes/farmacología , Cisplatino/farmacología , Células Epiteliales , Humanos , Peroxidación de Lípido , Estrés Oxidativo , ARN Mensajero/genética , Superóxido Dismutasa/genética , Triterpenos
5.
Cent Eur J Immunol ; 47(3): 275-279, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36817264

RESUMEN

Introduction: The aim of the study was to assess the epidemic situation among veterinarians of the Swietokrzyskie Voivodeship, Poland, in relation to the control group. Material and methods: The research was divided into 3 stages. Stage I involved the selection of subjects. In stage II, flow cytometry for immunophenotyping was performed and the percentage of the sub-population of CD4 cells and CD8 cells was assessed. Stage III involved collection of nasopharyngeal swab samples in order to determine the canine coronavirus CR-CoV mRNA with the rT-PCR method. Results: The percentage of the CD4 and CD8 lymphocyte subpopulation in relation to the total lymphocyte population in veterinarians did not differ statistically from the percentage in the control group. The CD4/CD8 ratio in the group of veterinarians was on average 1.93, and 2.04 in the control group. There was no statistically significant difference between the groups, p = 0.591. Canine CR-CoV mRNA was not detected in any of the veterinarians or in the control group. Conclusions: None of the veterinarians had a significant increase in T lymphocytes, which could be an effective defense against SARS-CoV-2.

6.
Pancreatology ; 21(8): 1434-1442, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34538581

RESUMEN

PURPOSE: Loss of function variants of the transient receptor potential cation channel, subfamily V, member 6 (TRPV6) have been recently associated with chronic pancreatitis (CP) in Japanese, German and French patients. Here, we investigated the association of TRPV6 variants with CP in independent European cohorts of early-onset CP patients from Poland and Germany. PATIENTS AND METHODS: We enrolled 152 pediatric CP patients (median age 8.6 yrs) with no history of alcohol/smoking abuse and 472 controls from Poland as well as 157 nonalcoholic young CP patients (median age 20 yrs) and 750 controls from Germany. Coding regions of TRPV6 were screened by Sanger and next generation sequencing. Selected, potentially pathogenic TRPV6 variants were expressed in HEK293T cells and TRPV6 activity was analyzed using ratiometric Ca2+ measurements. RESULTS: Overall, we identified 10 novel (3 nonsense and 7 missenses) TRPV6 variants in CP patients. TRPV6 p.V239SfsX53 nonsense variant and the variants showing significant decrease in intracellular Ca2+ concentration in HEK293T cells (p.R174X, p.L576R, p.R342Q), were significantly overrepresented in Polish patients as compared to controls (6/152, 3.9% vs. 0/358, 0%; P = 0,0007). Nonsense TRPV6 variants predicted as loss of function (p.V239SfsX53 and p.R624X) were also significantly overrepresented in German patients (3/157; 2.0% vs 0/750; 0%, P = 0.005). CONCLUSIONS: We showed that TRPV6 loss of function variants are associated with elevated CP risk in early-onset Polish and German patients confirming that TRPV6 is a novel CP susceptibility gene.


Asunto(s)
Pancreatitis Crónica , Adulto , Canales de Calcio/genética , Niño , Alemania/epidemiología , Células HEK293 , Humanos , Pancreatitis Crónica/genética , Polonia/epidemiología , Canales Catiónicos TRPV/genética , Adulto Joven
7.
Graefes Arch Clin Exp Ophthalmol ; 259(3): 653-659, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32944817

RESUMEN

PURPOSE: (1) To assess the thickness of the central choroid (BM-CSI) in swept-source optical coherence tomography (SS-OCT) examination of lamellar macular holes (LMHs). (2) To establish correlations between the thickness of the central choroid (BM-CSI) in the LHM and the parameters of best-corrected visual acuity and reading vision in patients with LMH. METHODS: This prospective case-control study assessed a group of 30 patients (30 eyes) with LMHs and a control group of 45 patients (90 eyes). The thickness of the central choroid (BM-CSI) was measured with an SS-OCT device. The average choroidal thickness in the fovea was defined as average thickness in the central area of 1000 µm in diameter, according to the Early Treatment Diabetic Retinopathy Study (ETDRS). The results were correlated with best-corrected visual acuity (BCVA), and reading vision. RESULTS: The average choroidal thickness in the study group (SG) with LMH was 160.34 µm (SD = 77.1), whereas in the control group (CG), it was 225.11 µm (SD = 93.8). The difference of 64.77 µm was statistically significant (p < 0.05). The BCVA was within the range between 0.7 (logMAR) and 0.1 (logMAR), with an average of 0.36 (logMAR) (SD = 0.23). Reading vision was within the range between - 0.2 (logMAR) and 0.3 (logMAR), with an average of 0.27 (logMAR) (SD = 0.12). A significant correlation between BCVA and the choroid (BM-CSI) was found. The correlation coefficient is average (r = 0.44) and positive. With better BCVA, a significantly thicker choroid (BM-CSI) can be observed. No significant correlation between BM-CSI and reading vision was found. The correlation coefficient value is minor (r = - 0.289), whereas lower values of BM-CSI can be observed with worse reading vision. CONCLUSION: We suggest that the choroid may take part in the pathogenesis of LMH development. Its significant thinning may be responsible for the ischemic degenerative mechanism degenerating outer layers of retina, apart from tractional mechanism.


Asunto(s)
Perforaciones de la Retina , Estudios de Casos y Controles , Coroides , Humanos , Estudios Prospectivos , Tomografía de Coherencia Óptica , Agudeza Visual
8.
BMC Womens Health ; 21(1): 196, 2021 05 11.
Artículo en Inglés | MEDLINE | ID: mdl-33975572

RESUMEN

BACKGROUND: The increased metabolic activity required to sustain breastfeeding and its associated milk production helps to reduce maternal fat stores accumulated during pregnancy. This study aims to assess the association between breastfeeding duration and fatness indices in middle-aged women. METHODS: The analysis was carried out in a group of 7500 parous 55.5 ± 5.3 year old women included body mass index, body fat percentage, and waist-to-height ratio. The likelihood of excessive weight or obesity in relation to total breastfeeding time using multivariate logistic regression analyses. RESULTS: An analysis of adjusted odds ratios did not show significant associations between breastfeeding duration and the risk of excessive weight and obesity in premenopausal women. After menopause, women who gave birth to 2 children and breastfed 1-6 and > 12 months had a lower risk of abdominal obesity (OR 0.70; 95% CI 0.50-0.99; p = 0.042; and OR 0.68; 95% CI 0.47-0.98; p = 0.039). Women who gave birth to 3 or more children and breastfed for 1-6 months, also showed a lower risk of overweight (OR 0.52; 95% CI 0.27-0.99; p = 0.047), compared to those ones that have never breastfed. There was no relationship found between the duration of lactation and the risk of excessive body fat. CONCLUSION: Breastfeeding may have some beneficial, long-term effect on the risk of excessive weight and abdominal obesity in women.


Asunto(s)
Lactancia Materna , Sobrepeso , Índice de Masa Corporal , Niño , Femenino , Humanos , Lactancia , Persona de Mediana Edad , Obesidad/epidemiología , Sobrepeso/epidemiología , Embarazo , Factores de Riesgo
9.
Pol J Pathol ; 72(2): 124-129, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34706519

RESUMEN

The key pro-proliferative pathway, based on EGFR-KRAS/BRAF-myc, is seen as the main goal of personalized therapy in rectal cancer. The objective of the study is to assess the EGFR immunoreactivity in rectal cancer and to estimate its relationship with the clinical outcome, especially as a predictor of poor outcomes. Patients: applying exclusion criteria, 102 patients with stage I-IV rectal cancer, who had undergone scheduled surgery during the period 2005-2011, were included in the study. There was a follow-up study with a span of 5 years from the date of the surgery. Immunohistochemistry using EGFR (EGFR Ab10, Clone111.6) was performed to detect an overexpression of the targeted receptor. Digital analysis of positive reactions of membranes was performed utilizing VisiopharmTM. The degree of EGFR intensity (log OR 0.854, OR 2.35, 95% Cl: 1.14-4.85, p = 0.021) is a significant factor in the prognosis of death within 2 years of surgery. The OS curve showed a significant decrease after 40 months from the date of surgery in the cases where EGFR had a high expression. The ROC curve for the cancer stage, according to the UICC classification and EGFR expression, in order to predict a 2-year RFS, reached a high specificity value (ROC = 0.81, p = 0.0408). Immunohistochemical EGFR expression is inexpensive, specific and broadly available.


Asunto(s)
Factor de Crecimiento Epidérmico , Neoplasias del Recto , Receptores ErbB , Estudios de Seguimiento , Humanos , Pronóstico , Neoplasias del Recto/cirugía
10.
Pancreatology ; 20(7): 1262-1267, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32859544

RESUMEN

BACKGROUND: The G-protein-coupled receptor Class C Group 6 Member A (GPRC6A) is activated by multiple ligands and is important for the regulation of calcium homeostasis. Extracellular calcium is capable to increase NLRP3 inflammasome activity of the innate immune system and deletion of this proinflammatory pathway mitigated pancreatitis severity in vivo. As such this pathway and the GPRC6A receptor is a reasonable candidate gene for pancreatitis. Here we investigated the prevalence of sequence variants in the GPRC6A locus in different pancreatitis aetiologies. METHODS: We selected 6 tagging SNPs with the SNPinfo LD TAG SNP Selection tool and the functional relevant SNP rs6907580 for genotyping. Cohorts from Germany, further European countries and China with up to 1,124 patients and 1,999 controls were screened for single SNPs with melting curve analysis. RESULTS: We identified an association of rs1606365(G) with alcoholic chronic pancreatitis in a German (odds ratio (OR) 0.76, 95% confidence interval (CI) 0.65-0.89, p = 8 × 10-5) and a Chinese cohort (OR 0.78, 95% CI 0.64-0.96, p = 0.02). However, this association was not replicated in a combined cohort of European patients (OR 1.18, 95% CI 0.99-1.41, p = 0.07). Finally, no association was found with acute and non-alcoholic chronic pancreatitis. CONCLUSIONS: Our results support a potential role of calcium sensing receptors and inflammasome activation in alcoholic chronic pancreatitis development. As the functional consequence of the associated variant is unclear, further investigations might elucidate the relevant mechanisms.


Asunto(s)
Pancreatitis/genética , Receptores Acoplados a Proteínas G/genética , Adulto , Anciano , Pueblo Asiatico , ADN/genética , Europa (Continente) , Femenino , Predisposición Genética a la Enfermedad , Variación Genética , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Persona de Mediana Edad , Pancreatitis Alcohólica/genética , Polimorfismo de Nucleótido Simple , Receptores Sensibles al Calcio/genética , Factores de Riesgo , Transducción de Señal/genética , Población Blanca
11.
Int J Vitam Nutr Res ; 90(5-6): 514-526, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30967104

RESUMEN

Research conducted in recent years provides more and more evidence that diet can have a significant impact on male fertility. The aim of the study was to analyze the relationship between diet, energy balance and fertility in men. A comprehensive literature search of published studies in various languages, was carried out in electronic databases. The direct analysis included 96 works published between 2008 and 2018, including 12 randomized controlled trials and 23 systematic reviews and meta-analyses. A strong adherence to a healthy dietary pattern is positively correlated with total sperm count, progressive motility and total motile sperm count (all p < 0.05). However, attention is drawn to the fact that foods that are considered "healthy" can sometimes contain a significant amount of pollution, which negatively affect the semen parameters. An adequate intake of antioxidants or their supplementation have been quite effective in the prevention and treatment of male infertility. The improvement of pregnancy rate after antioxidant therapy ranged in various studies from 11% to 41%. An important problem, however, may be choosing the right dose of the supplement or finding an appropriate combination of antioxidants that may be more effective than any single antioxidant. The normalization of men's body weight is beneficial for the quality of sperm and the concentration of male reproductive hormones. Further, long-term studies require the assessment of the impact of drastic weight loss after bariatric surgery on male fertility.


Asunto(s)
Infertilidad Masculina , Análisis de Semen , Estudios Transversales , Dieta , Femenino , Fertilidad , Humanos , Lenguaje , Masculino , Embarazo , Recuento de Espermatozoides , Motilidad Espermática/fisiología , Espermatozoides/química , Espermatozoides/fisiología
12.
Int J Mol Sci ; 21(21)2020 Oct 24.
Artículo en Inglés | MEDLINE | ID: mdl-33114460

RESUMEN

Understanding the importance of oral microbiota in human health and disease also leads to an expansion of the knowledge on functional, metabolic, and molecular alterations directly contributing to oral and systemic pathologies. To date, a compelling number of studies have documented the crucial role of some oral cavity-occurring microbes in the initiation and progression of cancers. Although this effect was noted primarily for Fusobacterium spp., the potential impact of other oral microbes is also worthy of investigation. In this study, we aimed to assess the effect of Enterococcus faecalis, Actinomyces odontolyticus, and Propionibacterium acnes on the proliferation capability and mechanical features of gingival cells and cell lines derived from lung, breast, and ovarian cancers. For this purpose, we incubated selected cell lines with heat-inactivated bacteria and supernatants collected from biofilms, cultured in both anaerobic and aerobic conditions, in the presence of surgically removed teeth and human saliva. The effect of oral bacteria on cell population growth is variable, with the highest growth-promoting abilities observed for E. faecalis in relation to human primary gingival fibroblasts (HGF) and lung cancer A549 cells, and P. acnes in relation to breast cancer MCF-7 and ovarian cancer SKOV-3 cells. Notably, this effect seems to depend on a delicate balance between the pro-stimulatory and toxic effects of bacterial-derived products. Regardless of the diverse effect of bacterial products on cellular proliferation capability, we observed significant alterations in stiffness of gingival and lung cancer cells stimulated with E. faecalis bacteria and corresponding biofilm supernatants, suggesting a novel molecular mechanism involved in the pathogenesis of diseases in oral cavities and tooth tissues. Accordingly, it is proposed that analysis of cancerogenic features of oral cavity bacteria should be multivariable and should include investigation of potential alterations in cell mechanical properties. These findings corroborate the important role of oral hygiene and root canal treatment to assure the healthy stage of oral microbiota.


Asunto(s)
Actinomyces/fisiología , Cavidad Pulpar/microbiología , Enterococcus faecalis/fisiología , Encía/citología , Neoplasias/microbiología , Propionibacterium acnes/fisiología , Células A549 , Biopelículas , Fenómenos Biomecánicos , Línea Celular , Línea Celular Tumoral , Proliferación Celular , Encía/microbiología , Calor , Humanos , Antígeno Ki-67/metabolismo , Células MCF-7 , Neoplasias/metabolismo
13.
Contemp Oncol (Pozn) ; 24(1): 67-74, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32514240

RESUMEN

Gastric cancer (GC) is one of the most common malignant cancers worldwide. Intraperitoneal dissemination is the typical mechanism of the formation of metastases in GC. The diagnosis of the presence of intraperitoneal free cancer cells (IFCCs) is treated equally to the M (metastasis) category according to the 8th edition of the TNM classification by the American Joint Committee on Cancer. IFCCs are cells which have detached from the primary tumour through exfoliation into the peritoneal cavity. The source of IFCCs may be iatrogenic due to improper surgical technique during resection of the tumour and may lead to intraperitoneal dissemination. Cytological examination of peritoneal lavage is considered as a gold standard in the confirmation of the presence of IFCCs; however, its sensitivity is very low. In order to increase the sensitivity and reliability of the examination, molecular biology techniques should be applied. In the case of detection of the presence of IFCCs in patients with GC, the patient should be qualified for chemotherapy, or possibly the use of hyperthermic intraperitoneal chemotherapy should be considered.

14.
Contemp Oncol (Pozn) ; 24(4): 247-251, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33531872

RESUMEN

The p21 participates in the regulation of DNA repair and replication, and modulation of apoptosis as well. After DNA damage, the p53-dependent induction of p21 results in cell cycle arrest or could trigger cell apoptosis. The objective of the study was the assessment of p21 immunoreactivity in rectal cancer and the estimation of relationships with clinical outcome especially as predictor of poor outcome. While applying the ruling in and out criteria, 102 patients were incorporated to the study, with stage I-IV rectal cancer who had undergone surgery in a planned mode during 2005-2011. The follow-up covered 5 years period from surgery date. Conventional immunohistochemistry were performed using antibody against p21 (p21WAF1 (Clone H252) to detect overexpression targeted receptor. The analysis showed no statistically significant differences in the survival curves of patients in groups with immunoreactivity of p21 protein at 0; 1; 2; 3 (p = 0.6453 in the log-rank test), also is not a significant risk factor for death (HR = 0.915, p = 0.7842) and for tumor dissemination (HR = 0.94, p = 0.9426). Our study leads to the conclusion that the probability of survival does not depend on p21 expression and do not authorize the importance of p21 immunoreactivity in the detection and monitoring of rectal cancer treatment.

15.
Pancreatology ; 19(4): 531-534, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31036489

RESUMEN

OBJECTIVES: It has previously been reported in a European case-control study with patients from Germany and France that CEL-HYB1, a hybrid allele of the carboxyl ester lipase (CEL) gene and its pseudogene CELP, increases susceptibility to chronic pancreatitis (CP). Here, we aimed to replicate this finding in Polish pediatric patients with CP. METHOD: The distribution of the CEL-HYB1 allele in a CP pediatric cohort (n = 147, median age at CP onset 7.6 years) with no history of alcohol/smoking abuse was compared with ethnically matched healthy controls (n = 500, median age 46 years). Screening was performed using long-range PCR followed by agarose gel-electrophoresis. RESULTS: We observed no significant difference in the carrier frequency of the CEL-HYB1 allele between CP patients (7/147, 4.8%) and controls (12/500, 2.4%; P = 0.16). CONCLUSIONS: This study found no statistically significant association between CEL-HYB1 and chronic pancreatitis in a cohort of Polish pediatric CP patients.


Asunto(s)
Lipasa/genética , Pancreatitis Crónica/epidemiología , Pancreatitis Crónica/genética , Adolescente , Edad de Inicio , Alelos , Portador Sano , Estudios de Casos y Controles , Niño , Preescolar , Estudios de Cohortes , Femenino , Frecuencia de los Genes , Humanos , Lactante , Masculino , Polonia/epidemiología , Reacción en Cadena de la Polimerasa
16.
Pancreatology ; 18(5): 477-481, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29884332

RESUMEN

BACKGROUND/OBJECTIVES: Acute pancreatitis (AP) is one of the most common gastrointestinal disorders often requiring hospitalization. Frequent aetiologies are gallstones and alcohol abuse. In contrast to chronic pancreatitis (CP) few robust genetic associations have been described. Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP. METHODS: We screened 1462 AP patients and 3999 controls with melting curve analysis for SNPs rs10273639 (PRSS1-PRSS2), rs7057398 (RIPPLY), and rs12688220 (MORC4). Calculations were performed for the overall group, aetiology, and gender sub-groups. To examine genotype-phenotype relationships we performed several meta-analyses. RESULTS: Meta-analyses of all AP patients depicted significant (p-value < 0.05) associations for rs10273639 (odds ratio (OR) 0.88, 95% confidence interval (CI) 0.81-0.97, p-value 0.01), rs7057398 (OR 1.27, 95% CI 1.07-1.5, p-value 0.005), and rs12688220 (OR 1.32, 95% CI 1.12-1.56, p-value 0.001). For the different aetiology groups a significant association was shown for rs10273639 (OR 0.76, 95% CI 0.63-0.92, p-value 0.005), rs7057398 (OR 1.43, 95% CI 1.07-1.92, p-value 0.02), and rs12688220 (OR 1.44, 95% CI 1.07-1.93, p-value 0.02) in the alcoholic sub-group only. CONCLUSIONS: The association of CP risk variants with different AP aetiologies, which is strongest in the alcoholic AP group, might implicate common pathomechanisms most likely between alcoholic AP and CP.

17.
Mol Biol Rep ; 45(5): 1055-1065, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30008141

RESUMEN

The spreading mechanisms of antibiotic resistance are related to many bacterial and environment factors. The overuse of antibiotics is leading to an unceasing emergence of new multidrug resistant strains. This problem also concerns uropathogenic Escherichia coli strains, which is the most common pathogen causing urinary tract infections. The aim of this study was the genetic analysis of antibiotic resistance in comparison to the phenotypic background of E. coli strains. The characterized collection of E. coli strains isolated 10 years ago from the urine samples of patients with urinary tract infections was used for antimicrobial susceptibility testing (the disc diffusion method) and analysis of antibiotic resistance genes (PCR reaction, sequencing). Additionally, the presence of ESBL strains was analyzed. Fourteen genes were associated with resistance to beta-lactams, aminoglycosides, sulfonamides and quinolones. The genetic analysis revealed that blaTEM-1 and sul2 were present in almost all of the studied strains. Other drug-resistance genes were very rare or non-existent. Otherwise, the phenotypic resistance to fluoroquinolones was well correlated with the genotypic background of the studied bacteria. The presence of particular genes and specific mutations indicate a high bacterial potential to multidrug resistance. On the other hand, it needs to be emphasized that the standard disk diffusion test for the routine antimicrobial susceptibility analysis is still the best way to estimate the current situation of bacterial drug-resistance.


Asunto(s)
Farmacorresistencia Bacteriana/genética , Farmacorresistencia Bacteriana Múltiple/genética , Escherichia coli Uropatógena/genética , Antibacterianos/farmacología , Escherichia coli/genética , Infecciones por Escherichia coli/microbiología , Femenino , Antecedentes Genéticos , Humanos , Masculino , Pruebas de Sensibilidad Microbiana , Infecciones Urinarias/microbiología , Orina/microbiología , Toma de Muestras de Orina/métodos
18.
BMC Pregnancy Childbirth ; 18(1): 465, 2018 Dec 03.
Artículo en Inglés | MEDLINE | ID: mdl-30509248

RESUMEN

BACKGROUND: The aim of this study was to describe the dietary patterns in pregnant women and determine the association between diet factors, pre-pregnancy body mass index, socio-demographic characteristics and gestational weight gain. METHODS: The analysis was conducted on a group of 458 women. Cut-off values of gestational weight gain adequacy were based on recommendations published by the US Institute of Medicine and were body mass index-specific. Logistic regression analysis was used to assess the risk of the occurrence of inadequate or excessive gestational weight gain. Dietary patterns were identified by factor analysis. RESULTS: Three dietary patterns characteristic of pregnant women in Poland were identified: 'unhealthy', 'varied' and 'prudent'. The factor associated with increased risk of inadequate gestational weight gain was being underweight pre-pregnancy (OR = 2.61; p = 0.018). The factor associated with increased risk of excessive weight gain were being overweight or obese pre-pregnancy (OR = 7.00; p = 0.031) and quitting smoking (OR = 7.32; p = 0.019). The risk of excessive weight gain was decreased by being underweight pre-pregnancy (OR = 0.20; p = 0.041), being in the third or subsequent pregnancy compared to being in the first (OR = 0.37; p = 0.018), and having a high adherence to a prudent dietary pattern (OR = 0.47; p = 0.033). CONCLUSIONS: Women who were overweight or obese pre-pregnancy and those who quit smoking at the beginning of pregnancy should be provided with dietary guidance to prevent excessive gestational weight gain.


Asunto(s)
Dieta/estadística & datos numéricos , Ganancia de Peso Gestacional , Obesidad/epidemiología , Cese del Hábito de Fumar/estadística & datos numéricos , Delgadez/epidemiología , Adolescente , Adulto , Índice de Masa Corporal , Estudios Transversales , Dieta Saludable , Análisis Factorial , Femenino , Número de Embarazos , Humanos , Modelos Logísticos , Oportunidad Relativa , Sobrepeso/epidemiología , Polonia/epidemiología , Embarazo , Factores de Riesgo , Encuestas y Cuestionarios , Adulto Joven
19.
Med Sci Monit ; 24: 7633-7645, 2018 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-30361469

RESUMEN

BACKGROUND The aim of this study was to assess the possible relationship between sitting time and physical activity and the risk of occurrence of metabolic syndrome and its components. Analyses were conducted in the whole sample, and with stratification according to BMI. We have formulated a hypothesis that individuals with different BMIs have different responses to metabolic health modifiers such as physical activity and sitting time. MATERIAL AND METHODS Altogether, the data from 10 367 participants from urban and rural areas, aged 37-66 years were used in the study (7479 of whom were overweight or obese). The definition of metabolic syndrome devised by the IDF Joint Interim Statement criteria using an ethnic-specific cut-off point for waist circumference as the central obesity criterion was used. RESULTS In all analyzed BMI groups, longer sitting time was only associated with abdominal obesity (all p for trend <0.05). In participants declaring low physical activity levels, the risk of metabolic syndrome and abnormal triglycerides concentration was higher compared to those declaring high physical activity, regardless of BMI (all p for trend <0.05). In the group with overweight or obesity, low physical activity was associated with a higher risk of abdominal obesity (p for trend <0.05), increased glucose concentration (p for trend <0.05), and elevated blood pressure (p for trend <0.05). In participants with a normal BMI, these associations did not occur. CONCLUSIONS Our data suggest that physical activity helps preventive metabolic syndrome and its abnormal components, especially in participants who are overweight or obese.


Asunto(s)
Ejercicio Físico/fisiología , Síndrome Metabólico/fisiopatología , Adulto , Anciano , Glucemia/análisis , Índice de Masa Corporal , Enfermedades Cardiovasculares/complicaciones , Colesterol/sangre , Femenino , Humanos , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Obesidad/complicaciones , Obesidad Abdominal/complicaciones , Sobrepeso/complicaciones , Factores de Riesgo , Conducta Sedentaria , Sedestación , Encuestas y Cuestionarios , Circunferencia de la Cintura
20.
BMC Gastroenterol ; 17(1): 13, 2017 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-28095786

RESUMEN

BACKGROUND: The aim of the study was to determine the relationship between the presence of p.G60 = polymorphism (c.180C > T; rs497078) CTRC and the incidence together with the clinical course of acute pancreatitis (AP). METHODS: Two hundred ninety-nine people suffering from AP and 417 healthy volunteers were subjected to the study. DNA was isolated from blood samples. RESULTS: CTRC p.G60 = polymorphism (c.180C > T) occurred more frequently in the AP group (p = 0.015). The CT and TT genotype was found in 27.8% of the AP patients and in 19.9% of the healthy subjects (p = 0.017). No significant correlation was found between having the CT and TT genotype and the severity of the AP clinical course. In 6 patients (2%) with the CT genotype, a SPINK1 gene mutation was found, while in the control group it was found in 3 patients (0.7%), (p > 0.05). All patients with the present SPINK1 mutation with the CT genotype had a moderate or a severe course of the disease (p = 0.0007). CONCLUSIONS: CTRC polymorphism Hetero p.G60=; c.180C > T increases the risk of an AP occurrence and together with the SPINK 1 mutation, may be responsible for a more severe course of the disease.


Asunto(s)
Quimotripsina/genética , Pancreatitis/genética , Polimorfismo Genético , Enfermedad Aguda , Proteínas Portadoras/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mutación , Índice de Severidad de la Enfermedad , Inhibidor de Tripsina Pancreática de Kazal
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