ECG patterns to predict pulmonary arterial hypertension in patients with severe tricuspid regurgitation.

INTRODUCTION: Echocardiographic evaluation of tricuspid regurgitation (TR) velocity is a key measure in screening for pulmonary hypertension. Based on its value and additional features of right ventricle overload patients are classified into low, intermediate or high probability of pulmonary hypertension which transfers into decisions of further invasive evaluation. However, in the presence of severe TR echocardiography underestimates pulmonary artery pressure and therefore pulmonary hypertension may be overlooked in some patients. Accordingly, in the present study we aimed to assess the role of electrocardiography in predicting the presence of pulmonary arterial hypertension (PAH) in patients with severe TR. RESULTS: We analysed 83 consecutive patients with severe TR who were diagnosed in our centre between February 2008 and 2021 and who underwent right heart catheterization. Of them 58 had PAH while 25 had isolated TR (iTR). We found that the following ECG criteria supported the diagnosis of PAH as opposed to the diagnosis of iTR: R:SV1 > 1.0, max RV1 or 2 + max S I or aVL -SV1 > 6 mm, SI/RI > 1 in I. For these parameters using ROC analysis we found that the optimal thresholds suggesting the presence of pulmonary hypertension were: R:SV1 > 1.5 (AUC = 0.74, p = 0.0004, sensitivity 57.1%,specificity of 85%), max RV1 or 2 + max S I or aVL - SV1 > 3 mm (AUC = 0.76, p < 0.0001, sensitivity 91.4%, specificity of 60%) and for SI:RI > 0.71 (AUC = 0.79, p < 0.0001, sensitivity 82.5%,specificity of 70.8%). Presence of atrial fibrillation predicted iTR with 76% sensitivity and 81% specificity. CONCLUSIONS: ECG analysis can improve the diagnostic process for patients with severe TR. The presence of atrial fibrillation facilitates the diagnosis of isolated tricuspid regurgitation (iTR), while increased values of R:SV1, R:SI, and increased max RV1 or 2 + max SI or aVL - SV1 favor the diagnosis of TR secondary to PAH.

Crohn's Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes.

The genetic background and the determinants influencing the disease form, course, and onset of inflammatory bowel disease (IBD) remain unresolved. We aimed to determine the NOD2 gene haplotypes and their relationship with IBD occurrence, clinical presentation, and onset, analyzing a cohort of 578 patients with IBD, including children, and 888 controls. Imaging or endoscopy with a histopathological confirmation was used to diagnose IBD. Genotyping was performed to assess the differences in genotypic and allelic frequencies. Linkage disequilibrium was analyzed, and associations between haplotypes and clinical data were evaluated. We emphasized the prevalence of risk alleles in all analyzed loci in patients with Crohn disease (CD). Interestingly, c.2722G>C and c.3019_3020insC alleles were also overrepresented in ulcerative colitis (UC). T-C-G-C-insC, T-C-G-T-insC, and T-T-G-T-wt haplotypes were correlated with the late-onset form of CD (OR = 23.01, 5.09, and 17.71, respectively), while T-T-G-T-wt and C-C-G-T-wt were prevalent only in CD children (OR = 29.36, and 12.93, respectively; p-value = 0.001). In conclusion, the presence of c.3019_3020insC along with c.802C>T occurred as the most fundamental contributing diplotype in late-onset CD form, while in CD children, the mutual allele in all predisposing haplotypes was the c.2798 + 158T. Identifying the unique, high-impact haplotypes supports further studies of the NOD2 gene, including haplotypic backgrounds.

European context of the diversity and phylogenetic position of SARS-CoV-2 sequences from Polish COVID-19 patients.

To provide a comprehensive analysis of the SARS-CoV-2 sequence diversity in Poland in the European context. All publicly available (n = 115; GISAID database) whole-genome SARS-Cov-2 sequences from Polish samples, including those obtained during coronavirus testing performed in our COVID-19 Lab, were examined. Multiple sequence alignment of Polish isolates, phylogenetic analysis (ML tree), and multidimensional scaling (based on the pairwise DNA distances) were complemented by the comparison of the coronavirus clades frequency and diversity in the subset of over 5000 European GISAID sequences. Approximately seventy-seven percent of isolates in the European dataset carried frequent and ubiquitously found haplotypes; the remaining haplotype diversity was population-specific and resulted from population-specific mutations, homoplasies, and recombinations. Coronavirus strains circulating in Poland represented the variability found in other European countries. The prevalence of clades circulating in Poland was shifted in favor of GR, both in terms of the diversity (number of distinct haplotypes) and the frequency (number of isolates) of the clade. Polish-specific haplotypes were rare and could be explained by changes affecting common European strains. The analysis of the whole viral genomes allowed detection of several tight clusters of isolates, presumably reflecting local outbreaks. New mutations, homoplasies, and, to a smaller extent, recombinations increase SARS-CoV-2 haplotype diversity, but the majority of these variants do not increase in frequency and remains rare and population-specific. The spectrum of SARS-CoV-2 haplotypes in the Polish dataset reflects many independent transfers from a variety of sources, followed by many local outbreaks. The prevalence of the sequences belonging to the GR clade among Polish isolates is consistent with the European trend of the GR clade frequency increase.

Colorectal carcinoma in the course of inflammatory bowel diseases.

BACKGROUND: Colorectal cancer (CRC) and inflammatory bowel disease (IBD) are the most prevalent diseases of the digestive system, and their association is unequivocal. A long-standing inflammatory process is one of the causes of sporadic as well as inherited cancers as it impacts on malignant transformation in a wide variety of neoplastic diseases, including colorectal cancer. METHODS: An extensive publication search was performed in Medline and PubMed database. The keywords: colorectal carcinoma, inflammation, Crohn disease, ulcerative colitis and inflammatory bowel disease were used. RESULTS: The nucleotide-binding oligomerization domain-containing protein 2 (NOD2) and toll like receptor (TLR) signaling pathways are clearly involved in the inflammatory process and are therefore implicated in the transformation of normal colonic mucosa to premalignant and malignant disease. Focal sites of inflammation could significantly increase the risk of initiation and development of cancer. Altered inflammatory activity is likely to be a result of either a disturbance of intestinal bacterial flora or an inadequate cellular response to it. Additionally, increasing the level of inflammation-related factors may also interfere with the control of cellular proliferation. CONCLUSIONS: This review shows an overview of the genetic and environmental factors that appear to influence both the occurrence of IBD and CRC with particular reference to NOD2 and TLRs as well as pro- and anti-inflammatory cytokines associated with tumor initiation and progression (encompassing both tumor invasion and metastases), as they constitute potential targets for therapeutic intervention.

QT Interval Prolongation and QRS Voltage Reduction in Patients with Liver Cirrhosis.

BACKGROUND: Liver cirrhosis is associated with functional abnormalities of the cardiovascular system with co-existing electrocardiographic (ECG) abnormalities. OBJECTIVES: The aim was to analyze ECG changes in patients with cirrhosis, to evaluate whether alcoholic etiology of cirrhosis and ascites has an impact on ECG changes. MATERIAL AND METHODS: The study involved 81 patients with previously untreated alcoholic cirrhosis (64 patients with ascites, classes B and C according to the Child-Pugh classification; and 17 without ascites, categorized as class A); 41 patients with previously untreated cirrhosis due to chronic hepatitis C (HCV--30 patients with ascites, classes B and C; and 11 without ascites, class A); 42 with alcoholic steatohepatitis and 46 with alcoholic steatosis. The control group consisted of 32 healthy volunteers. Twelve-lead ECG recordings were performed and selected parameters were measured. RESULTS: Significantly longer QT and QTc intervals and lower QRS voltage were found in patients with alcoholic and HCV cirrhosis compared to the controls. Significantly lower QRS voltage was found in subjects with ascites than in those without ascites. Removal of ascites significantly increased QRS voltage. CONCLUSIONS: In cirrhosis, irrespective of etiology, ECG changes involved prolonged QT and QTc intervals and reduced QRS voltage. Prolonged QT and QTc intervals were not related to the severity of cirrhosis or to the presence of ascites. However, low QRS voltage was associated with the presence of ascites. Removal of ascites reverses low QRS voltage.

[Serum iron parameters in chronic liver diseses]. / Parametry gospodarki zelazem w przewleklych chorobach watroby.

UNLABELLED: Iron is an essential micronutrient of almost all organisms, which is involved in many metabolic processes. Disorders of serum iron balance that relate mainly to its deficiency are frequently observed in patients with liver diseases. The aim of the study was the evaluation of serum iron parameters in patients with different chronic liver diseases and analysis of the relationships between serum level of iron, ferritin and transferrin in women and men in groups examined. MATERIAL AND METHODS: The study includes 424 patients: 151 with alcoholic liver cirrhosis (ALC), 53 with nonalcoholic fatty liver disease (NAFLD), 54 with autoimmune hepatitis (AIH), 19 patients with hepatocellulare cancer (HOC), 34 with primary biliaris cirrhosis (PBC), 39 with chronic HCV hepatitis, 48 with chronic HBV hepatitis, 15 with primary sclerosans cholangitis (PSC) and 11 patients with hemochromatosis. Forty two healthy volunteers were the control group. RESULTS: The highest mean serum level of iron was observed in patients with hemochromatosis and was 278.56 +/- 25.04 mg/dl. The mean level of iron was statistically significant different in patients with HCC in comparison to the patients with ALC (p = 0.0000), with AIH (p = 0.0108) and NAFLD (p = 0.00768). The mean level of ferritin was statistically significantly higher among patients with hemochromatosis (p = 0.0000), with ALC (p = 0.0037) and NAFLD (p = 0.0442) than in the controls. Patients with AIH, HCC, HCV infection, PSC and hemochromatosis showed higher serum level of transferin than the controls (p = 0.0000). The mean level of iron and ferritin was lowerin women than in men in the patients with ALC (p = 0.0088, p = 0.0018 respectively). The mean level of ferritin was significantly lower in men than in women among patients with NAFLD. (p = 0.0065). There were no statistically significant differences in the mean level of examined parameters between the sexes. CONCLUSION: Reduced serum level of iron is observed in chronic liver diseases. Elevated ferritin level is typical for patients with ALC and NAFLD. Differences in the level of iron, ferritin and transferin between men and women concemrn the patients with ALC while among patients with NAFLD only ferritin level differences are found.

[Evaluation of alpha-fetoprotein concentration in patients with chronic liver diseases]. / Ocena stezenia alfa-fetoproteiny u pacjentów z przewleklymi schorzeniami watroby.

UNLABELLED: Alpha-fetoprotein (AFP) is a tumor marker used in clinical diagnosis and for monitoring the course of treatment. Serum concentration of AFP in excess of several hundred ng/ml is nearly 100 percent positive predictive value for hepatocellular carcinoma. The aim of this study was evaluation of AFP serum concentration in patients with different chronic liver diseases and the relationship between the concentration of AFP and gender in the studied groups of patients. MATERIAL AND METHODS: The study includes 359 patients: 72 with autoimmune hepatitis, 27 with cancer metastatic to the liver, 53 with nonalcoholic fatty liver disease, 207 with liver cirrhosis and 40 healthy volunteers as control group. The concentration of AFP was examined in all patients. RESULTS: The highest AFP concentration occurred in the patients with autoimmune hepatitis, with metastatic liver cancer and with liver cirrhosis 16.81 +/- 5.49 ng/ml, 9.67 +/- 1.48 ng/ml i 8.42 +/- 2.73 ng/ml (p < 0.001 compared to the control group) respectively. Considering the classification of cirrhosis according to Child-Pugh Score the mean concentrations of AFP were: in Class A - 7.03 +/- 2.29 ng/ml, B - 7.59 +/- 2.45 ng/ml i C - 10.02 +/- 2.40 ng/ml. There were no statistically significant differences in the mean AFP concentrations between the patients with nonalcoholic fatty liver disease and the control group. Also showed no differences in the average concentration of AFP in men and women in study groups of patients (p > 0.05). CONCLUSIONS: Elevated serum AFP concentration typically up to several ng/ml is observed in autoimmune hepatitis, metastatic liver cancer and liver cirrhosis. Concentration of AFP correlates with the severity of liver cirrhosis. Simple steatosis of liver as one of the forms of nonalcoholic fatty liver disease is characterized by normal serum concentration of AFP. No relationship between AFP concentration and gender in patients with chronic liver disease is observed.

The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis.

INTRODUCTION:  Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis. OBJECTIVES:  The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without any digestive organ damage, and controls. We also sought to investigate whether the frequency of this mutation differs between women and men, and whether the mutation is associated with the age of patients at first diagnosis of chronic pancreatitis. PATIENTS AND METHODS:  The study included 207 patients: 67 with alcoholic chronic pancreatitis, 35 with nonalcoholic chronic pancreatitis, 43 alcoholics with no damage to digestive organs, and 62 healthy volunteers who served as controls. The N34S mutation of the SPINK1 gene was detected with the polymerase chain reaction. RESULTS:  The N34S mutation of the SPINK1 gene occurred in 15 of 207 patients (7.25%). The mutation was most frequent in patients with alcoholic chronic pancreatitis (10 patients, 16.39%) and was more frequent compared with the control group (2 patients, 3.23%) (P = 0.047). There were no statistically significant differences between the other groups: patients with nonalcoholic chronic pancreatitis (2 patients, 5.71%), alcoholics without digestive organ damage (1 patient, 2.33%), and controls. The mutation was more frequent in men than in women (P = 0.043). There were no differences between patients with and without the mutation in terms of the age at first diagnosis of chronic pancreatitis (P >0.05). CONCLUSIONS:  The N34S mutation of the SPINK1 gene seems to be significantly correlated with alcoholic chronic pancreatitis.