- MeSH
- Ascites drug therapy therapy MeSH
- Liver Cirrhosis drug therapy therapy MeSH
- Humans MeSH
- Check Tag
- Humans MeSH
BACKGROUND: Transjugular intrahepatic portosystemic shunts (TIPSs) have become a widely accepted tool in the treatment of patients with symptomatic portal hypertension. The aim of our study was to assess the value of cardiac markers before and after TIPS insertion for the prediction of one-year mortality in cirrhotic patients. METHODS: The study population consisted of 55 patients (38 men and 17 women, aged 55.6 ± 8.9 y, range 37-74) with liver cirrhosis treated with transjugular portosystemic shunting. Biochemical markers were measured before and 24 h after TIPS. High-sensitivity cardiac troponin T (hs-cTnT) was tested by high-sensitivity immunoassay for Elecsys analyser (Roche Diagnostics). Concentrations of creatine kinase MB isoenzyme, myoglobin (MYO), glycogenphosphorylase BB isoenzyme (GPBB) and heart type of fatty acid binding protein (FABP) were measured by the Evidence Investigator protein biochip system (Randox Laboratories). RESULTS: In patients before TIPS insertion, hs-cTnT was increased above the cut-off (0.014 μg/L) in 39.2% of patients. Higher hs-cTnT and FABP concentrations were associated with poor survival in patients before TIPS (hs-cTnT: P = 0.018; FABP: P = 0.016). Twenty-four hours after the TIPS procedure, we found a significant elevation in serum GPBB in comparison with preprocedural values (P < 0.001). There was an association between postprocedural concentrations of cardiac markers (MYO, hs-cTnT, FABP) and overall survival. CONCLUSIONS: Measurement of cardiac markers, mainly hs-cTnT and FABP, may be useful for mortality prediction in cirrhotic patients after TIPS. Cardiac markers are better mortality predictors than other risk factors such as age, gender or Child-Pugh score.
- MeSH
- Biomarkers blood metabolism MeSH
- Adult MeSH
- Liver Cirrhosis blood diagnosis metabolism mortality surgery MeSH
- Middle Aged MeSH
- Humans MeSH
- Multivariate Analysis MeSH
- Myocardium metabolism MeSH
- Prognosis MeSH
- ROC Curve MeSH
- Aged MeSH
- Portasystemic Shunt, Transjugular Intrahepatic * MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
INTRODUCTION: Liver cirrhosis is associated with hyperdynamic circulation which can result in heart failure. Transjugular intrahepatic portosystemic shunt (TIPS) due to increase of cardiac output is a stressful stimulus for cardiovascular system. Therefore, new methods for early detection of heart failure are needed. Transmitral flow is a marker of diastolic dysfunction. AIM: To analyze short- and long-term effect of TIPS procedure on transmitral flow. MATERIAL AND METHODS: 55 patients (38 men and 17 women, 55.6 ± 8.9 years) with liver cirrhosis treated with TIPS were enrolled in the study. Echocardiography was performed before, 24 h, 7, 30 and 180 days after the procedure. During 6 month follow up 22 patients died. Results. Left ventricle end-diastolic diameter was increasing during the follow-up [baseline: 47 (44.7-51.2) mm, day 7: 50 (46.5-51.3) mm, p < 0.05; day 30: 49.5 (46.7-55.2) mm, p < 0.01; 6 months: 52.5 (48.3-55.2) mm, p < 0.01)]. The peak early filling velocity (E) was significantly increasing [before: 75.5 (60.5-87.3) cm/s, 24 h: 88 (74.3-109.7), p < 0.01; day 7: 89 (81.5-105) p < 0.01; 1 month: 94 (82.7-108.5) p < 0.01; 6 month: 91 (80.1-120.2) p < 0.01]. Peak late atrial filling velocity (A) significantly increased within 24 h after the procedure: 85.1 (76.2-99.5) vs. 91.2 (81.5-104.5) cm/s, p < 0.05. The E/A ratio was increasing during the follow up (baseline: 0.88, 24 h after: 0.89, 1 week: 1.0, 30 days: 1.13, 6 month: 1.06 p < 0.01). CONCLUSION: Hemodynamic changes following TIPS procedure can be monitored using echocardiography. Transmitral flow analysis can serve as a useful tool for evaluating of diastolic function in these patients.
- MeSH
- Echocardiography, Doppler, Color MeSH
- Time Factors MeSH
- Adult MeSH
- Ventricular Function, Left MeSH
- Hemodynamics * MeSH
- Liver Cirrhosis complications mortality physiopathology surgery MeSH
- Kaplan-Meier Estimate MeSH
- Middle Aged MeSH
- Humans MeSH
- Mitral Valve physiopathology ultrasonography MeSH
- Predictive Value of Tests MeSH
- Chi-Square Distribution MeSH
- Aged MeSH
- Heart Failure etiology physiopathology MeSH
- Stroke Volume MeSH
- Portasystemic Shunt, Transjugular Intrahepatic adverse effects mortality MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Charcot-Marie-Tooth neuropathies (CMT) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. Selection of candidate disease genes for mutation analysis is sometimes difficult since more than 40 genes and loci are known to be associated with CMT neuropathies. Hence a Czech family Cz-CMT with demyelinating type of autosomal dominant CMT disease was investigated by genome-wide linkage analysis by means of single-nucleotide polymorphism (SNP) arrays. Among 35 regions with linkage, five carried known CMT genes. In the final result a novel early growth response 2 - missense mutation c.1235 A>G, p.Glu412Gly was found. Surprisingly, the more severely affected proband carried an additional heterozygous myelin protein zero variant p.Asp246Asn detected previously, which may modify the phenotype. However, this MPZ variant is benign in heterozygous state alone, because it is also carried by the patient's healthy father.
- MeSH
- Genome-Wide Association Study MeSH
- Charcot-Marie-Tooth Disease ethnology genetics MeSH
- Phenotype * MeSH
- Genetic Linkage * MeSH
- Polymorphism, Single Nucleotide genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation genetics MeSH
- Early Growth Response Protein 2 genetics MeSH
- Severity of Illness Index MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
INTRODUCTION: The study investigates the potential for producing medical components via Selective Laser Melting technology (SLM). The material tested consisted of the biocompatible titanium alloy Ti6Al4V. The research involved the testing of laboratory specimens produced using SLM technology both in vitro and for surface roughness. The aim of the research was to clarify whether SLM technology affects the cytocompatibility of implants and, thus, whether SLM implants provide suitable candidates for medical use following zero or minimum post-fabrication treatment. Areas covered: The specimens were tested with an osteoblast cell line and, subsequently, two post-treatment processes were compared: non-treated (as-fabricated) and glass-blasted. Interactions with MG-63 cells were evaluated by means of metabolic MTT assay and microscope techniques (scanning electron microscopy, fluorescence microscopy). Surface roughness was observed on both the non-treated and glass-blasted SLM specimens. Expert Commentary: The research concluded that the glass-blasting of SLM Ti6Al4V significantly reduces surface roughness. The arithmetic mean roughness Ra was calculated at 3.4 µm for the glass-blasted and 13.3 µm for the non-treated surfaces. However, the results of in vitro testing revealed that the non-treated surface was better suited to cell growth.
- MeSH
- Cell Line MeSH
- Lasers * MeSH
- Humans MeSH
- Osteoblasts cytology metabolism MeSH
- Surface Properties MeSH
- Materials Testing * MeSH
- Titanium pharmacology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C > T (p.P44S) in the FA2H gene in the 30-year-old patient presenting with spastic paraplegia. The patient originated form the Czech minority in Romania. The patient manifests typical clinical signs for SPG35 (youth onset gait impairment, progressive spastic paraparesis on lower limbs, dysarthria, white matter changes in MRI).
- MeSH
- Adult MeSH
- Genes, Recessive MeSH
- Homozygote MeSH
- Humans MeSH
- Mutation * MeSH
- Mixed Function Oxygenases genetics MeSH
- Pedigree MeSH
- Spastic Paraplegia, Hereditary genetics pathology MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Recently described Alkuraya-Kučinskas syndrome (ALKKUCS) clinically presented with severe congenital hydrocephalus, severe brain hypoplasia and other multiple malformations has been described in only few families worldwide to date. ALKKUCS is caused by biallelic pathogenic variants in the KIAA1109 gene with autosomal recessive inheritance. We describe two brothers of Roma origin born with severe congenital hydrocephalus, brain hypoplasia and other clinical findings corresponding with ALKKUCS. Using WES two novel pathogenic variants c.359-1G>A and c.14564_14565del in compound heterozygous status in the KIAA1109 gene were found in both brothers. We consider that the number of healthy heterozygous carriers of pathogenic variants in KIAA1109 could be higher than it is known and pathogenic variants in KIAA1109 could be more frequent cause of congenital hydrocephalus and severe brain dysplasias.
- MeSH
- Alleles MeSH
- Exons MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease * MeSH
- Genetic Variation * MeSH
- Genetic Association Studies * methods MeSH
- Hydrocephalus diagnosis genetics MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Abnormalities, Multiple diagnosis genetics MeSH
- Mutation MeSH
- Proteins genetics MeSH
- Pedigree MeSH
- Siblings * MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Geographicals
- Czech Republic MeSH
