MTA-SZTE Research Group on Artificial Intelligence
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A hasnyálmirigy áttétes daganatai – kialakulásuktól a terápiás lehetőségekig [Secondary tumors of the pancreas - from origins to therapeutic options]
Get PDFTimely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer
Get PDFBackground: Autosomal dominant genodermatoses with a predisposition for cancer make up a well-described disease group with unique cutaneous alterations in each. This should urge dermatologists to think of other consequences beyond the skin. Histological examination serves as the gold standard, and it is an effective tool for the first investigation, even nowadays in the “next-generation genetic” era. Multiple appearances of benign tumours histologically proved to be cutaneous leiomyomatosis suggest a rare disorder with germline heterozygous pathogen variant in the FH gene. The encoded fumarate hydratase is a Krebs cycle enzyme, and has a role in catalysing the transition from fumarate to malate.
Case presentation: Years before the easy accessibility of the complete genetic workup in Hungary, a yearly abdominal MRI check-up was suggested preventively for a middle-aged man with multiplex cutaneous leiomyomata. During the follow-up period papillary type 2 renal cell carcinoma was diagnosed in the left kidney at an early stage, and a successful operation saved his life without the need for aggressive chemotherapy or immunotherapy. Immunohistochemistry of tumour tissue proved FH-deficient renal cell cancer. We discuss in short the current knowledge of pathophysiology and accessible therapies regarding this aggressive malignant tumour type in the kidney, which is usually detected in the advanced stage with early metastasis. We also highlight an early sign, i.e., solitary cystic alteration in the kidney, which can be preliminarily observed before malignant transformation, which was also described in mouse models. Sanger sequencing and Multiplex-Ligation-Dependent Probe Amplification (MLPA) analysis of the FH gene was completed in the affected son of the original proband, and Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) was confirmed by demonstrating a large germline deletion in this family after years of observation.
Conclusion: Regular observation of individuals with hereditary leiomyomatosis may prevent a serious sequelae of untreatable renal malignancy
The Fraudulent and Culpable Bankruptcy in Complex Approach, with Special Regard to the Practice of the Royal Hungarian Curia
Get PDFHigh-Performance Liquid Chromatographic Separation of Stereoisomers of ß-Methyl-Substituted Unusual Amino Acids Utilizing Ion Exchangers Based on Cinchona Alkaloids
Get PDFNovel peptides based on common amino acid building blocks may serve as possible drug candidates; however, their flexible structures may require stabilization via the incorporation of conformational constraints. The insertion of unusual amino acids is a feasible option that may provide improved pharmacokinetic and pharmacodynamic properties of such peptide-type drugs. The stereochemical purity of these kinds of building blocks must be verified by an efficient separation technique, such as high-performance liquid chromatography. Here, we present and discuss the results of the stereoselective separation mechanism of ß-methylated phenylalanine (ß-MePhe), tyrosine (ß-MeTyr), 1,2,3,4-tetrahydroisoquinoline-3-carboxylic acid (ß-MeTic), and cyclohexylalanine (ß-MeCha) together with non-methylated Phe, Tyr, Tic, and Cha applying Cinchona alkaloid-based chiral stationary phases (CSPs). The studied zwitterionic CSPs acting as ion exchangers provided optimal performance in the polar ionic mode when methanol or a mixture of methanol and acetonitrile was utilized as the mobile phase together with organic acid and base additives. It was found that the basicity of small amines applied as mobile phase additives did not directly influence the chromatographic ion exchange concept. However, the size of the amines and their concentration led to a reduced retention time following the principles of ion exchange chromatography. On the basis of a systematic study of the effects of the eluent composition on the chromatographic behavior, important structure–retention and enantioselectivity relationships could be revealed. Through a temperature study, it has become evident that the composition of the eluent and the structure of analytes markedly affect the thermodynamic properties
Novel IgG and IgA autoantibodies validated in two independent cohorts are associated with disease activity and determine organ manifestations in systemic lupus erythematosus : implications for anti-LIN28A, anti-HMGN5, anti-IRF5, and anti-TGIF1
Get PDFThis study aimed to identify and validate novel autoantibodies that reflect global and organ-specific disease activity in systemic lupus erythematosus (SLE).Plasma samples were screened for IgG and IgA seroreactivity against 1609 protein autoantigens using a microarray (i-Ome Discovery; Sengenics). We determined differentially abundant autoantibodies (daAAbs) in patients with SLE vs healthy controls within a discovery (n = 196 vs n = 110; NTC02890121) and an independent validation cohort (n = 30 vs n = 83; NCT02890134) from the European PRECISESADS project. Validated daAAbs were analysed in relation to global and organ-specific disease activity using linear and logistic regression, along with daAAb target pathway enrichment analysis.We validated 89 IgG and 66 IgA daAAbs. IgG anti-LIN28A, IgG anti-HMGN5, and both isotypes for anti-IRF5 and anti-TGIF1 were associated with a SLE disease activity index 2000 score of ≥10, negatively associated with lupus low disease activity state, and highly prevalent in subgroups with active disease across organ manifestations. IgG anti-LIN28A levels exceeded the cutoff for positivity in 53% of patients with central nervous system (CNS) involvement, a prevalence higher than that observed for anti-double-stranded DNA (20%) and 47% of patients with renal activity. A cluster of IgG and IgA daAAbs against RNA-binding proteins, including anti-LIN28A, was linked to CNS involvement. IgA anti-FOSL2 was elevated uniquely in patients with musculoskeletal activity. Enriched pathways involving DNA binding and repair showed considerable overlap across manifestations.Novel IgG and IgA autoantibodies, including IgG anti-LIN28A, IgG anti-HMGN5, IgG and IgA anti-IRF5, and IgG and IgA anti-TGIF1 were associated with SLE disease activity and highly abundant across organ manifestations
A JAK gátlás biztonságossága, gyakorlati kivitelezése [Practical management of JAK inhibitors: safety considerations]
Get PDFSzócikkek az IJOTEN Internetes Jogtudományi Enciklopédia Szerzői Jog és Iparjogvédelem rovatából: Jogkimerülés a szerzői jogban és az iparjogvédelemben
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