Zinner syndrome is a rare congenital malformation of the mesonephric duct comprising of seminal vesicle cyst, ipsilateral renal agenesis, and ejaculatory duct obstruction. Clinical presentation varies with perineal pain, painful ejaculation, hematospermia and infertility common presenting complaints. Here, we present a case of Zinner syndrome in a 35-year-old male with a rare clinical presentation of only abdominal discomfort. The purpose of this case report is to highlight the challenging clinical presentation of Zinner syndrome and the use of imaging modalities in diagnosing the condition.

• Klíčová slova
• Challenging clinical presentation, Ejaculatory duct obstruction, Role of MRI, Urology triad, Zinner syndrome,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• Klíčová slova
• OBSTETRICAL FORCEPS *,
• MeSH
• ambulantní zařízení * MeSH
• gynekologie * MeSH
• lidé MeSH
• poloha plodu koncem pánevním * MeSH
• porodnické kleště * MeSH
• těhotenství MeSH
• vedení porodu * MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

AIMS: The study analysed post-acute COVID-19 symptoms and the pulmonary function test (PFT) results in patients surviving the native strain of the virus. METHODS: The study was prospective; the inclusion criteria were positive PCR test for SARS-CoV-2 and age 18-100. Exclusion criteria were active respiratory infection, known or suspicious pre-existing pulmonary disease, cardiac failure, recent or acute pulmonary embolism, anaemia, and neuromuscular diseases. The recruitment period was 1st March 2020 - 25th December 2020. The initial examination was performed 4-12 weeks after the disease onset. All subjects underwent physical examination, anamnesis, chest x-ray and PFT. RESULTS: The study involved 785 subjects (345 male) mean age 53.8 (SD 14.6). The disease severity groups were: mild (G1), moderate (G2) and severe/critical (G3). Anosmia was present in the acute disease phase in 45.2% of G1 patients, but only in 4.5% of G3 patients. Dyspnoea occurred frequently in more severe groups (40%, 51.8% and 63.7% for G1, G2 and G3 respectively), while cough and fatigue showed no relationship to disease severity. Females were more likely to experience persistent symptoms. PFT results were significantly decreased in more severe groups compared to the mild COVID-19 patients, diffusing capacity was 86.3%, 79% and 68% of predicted values in G1, G2 and G3 respectively. CONCLUSION: Anosmia during the acute phase was associated with mild disease, persisting dyspnoea was more frequent after more severe COVID-19. Females tended to have persisting symptoms in post-acute phase more frequently. PFT results showed decrease with disease severity.

• Klíčová slova
• COVID-19, clinical presentation, post-acute phase, pulmonary function tests,
• MeSH
• anosmie MeSH
• COVID-19 * komplikace   diagnóza   MeSH
• dospělí MeSH
• dyspnoe etiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• prospektivní studie MeSH
• respirační funkční testy MeSH
• SARS-CoV-2 MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Vaccines currently in the clinical use contain adjuvants stimulating preferably Th2 type of immune response associated with the production of specific antibodies, mostly of neutralizing isotypes. This kind of immune response is effective only against some types of pathogens and has limited effect against tumors and many viruses where parallel activation of antigen-specific humoral and cell-mediated immunity is required. One of the main objectives of the current vaccine research is the development of approaches leading to the induction of antigen-specific CD8(+) T cell response including cytotoxic T lymphocyte (CTL). Induction of antigen-specific CD8(+) T cell response to exogenously delivered antigen requires their cross-presentation by antigen presenting cells, especially dendritic cells. The cross-presentation principles seem to be crucial for effective activation of CTL. In this paper, we discuss some approaches to employing heat shock proteins for induction of antigen-specific CD8(+) T cells in the context of cross-presentation and cross-priming principles.

• Klíčová slova
• Cross-presentation, Dendritic cells, Heat shock protein (hsp),
• MeSH
• aktivace lymfocytů MeSH
• CD8-pozitivní T-lymfocyty imunologie   MeSH
• cytotoxicita imunologická MeSH
• dendritické buňky imunologie   transplantace   MeSH
• lidé MeSH
• nádory imunologie   terapie   MeSH
• nepřímá aktivace * MeSH
• proteiny teplotního šoku imunologie   MeSH
• protinádorové vakcíny * MeSH
• virové nemoci imunologie   terapie   MeSH
• virové vakcíny * MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• proteiny teplotního šoku MeSH
• protinádorové vakcíny * MeSH
• virové vakcíny * MeSH

This report describes an unusual case of 35 year old man with endotracheal mesenchymoma. He was treated for two years as asthmoid bronchitis or asthma without any favourable result. The diagnosis was established by x-ray tomography and the patient was referred to the surgical treatment. The tumour was removed and the trachea was reconstructed. Postoperative course was very good. The patient is doing well without recurrence many years following the operation.

• MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• lidé MeSH
• mezenchymom diagnóza   MeSH
• nádory průdušnice diagnóza   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of patients with MDS. Digital droplet polymerase chain reaction profiling of a selected cohort of 375 male patients lacking MDS disease-defining mutations or established World Health Organization (WHO) disease classification identified 28 patients (7%) with UBA1 p.M41T/V/L mutations. Using targeted sequencing of UBA1 in a representative MDS cohort (n = 2027), we identified an additional 27 variants in 26 patients (1%), which we classified as likely/pathogenic (n = 12) and of unknown significance (n = 15). Among the total 40 patients with likely/pathogenic variants (2%), all were male and 63% were classified by WHO 2016 criteria as MDS with multilineage dysplasia or MDS with single-lineage dysplasia. Patients had a median of 1 additional myeloid gene mutation, often in TET2 (n = 12), DNMT3A (n = 10), ASXL1 (n = 3), or SF3B1 (n = 3). Retrospective clinical review, where possible, showed that 82% (28/34) UBA1-mutant cases had VEXAS syndrome-associated diagnoses or inflammatory clinical presentation. The prevalence of UBA1 mutations in patients with MDS argues for systematic screening for UBA1 in the management of MDS.

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mutace * MeSH
• myelodysplastické syndromy * genetika   diagnóza   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ubikvitin aktivující enzymy * genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• UBA1 protein, human MeSH Prohlížeč
• ubikvitin aktivující enzymy * MeSH

Free-text forms of medical guidelines that are used in medical care are often cumbersome and difficult to memorize. Therefore a system that is able to present guidelines in a user-friendly manner has been designed. Guidelines are at first formalized by means of the popular GLIF3 model. Subsequently, the GLIF3 model is coded in XML. The system uses patient data and an XML-coded GLIF3 model graph evaluating the conditions of decision steps. If some conditions cannot be evaluated, (due to the unavailability of required data items), the system stops and highlights a branch from the root of the decision tree to the final step. Then, the user can input missing data into the system so that the system can continue to provide visualization. Thus, the presentation of guidelines is data-driven, making its use easier. The visualization system and the Electronic Health Record can be integrated in a system that can, during examination of a patient, suggest subsequent medical actions according to medical guidelines. Such a system has been designed and is now under development.

• MeSH
• interinstitucionální vztahy MeSH
• lidé MeSH
• programovací jazyk MeSH
• směrnice pro lékařskou praxi jako téma * MeSH
• systémy pro podporu klinického rozhodování * MeSH
• uživatelské rozhraní počítače MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

OBJECTIVE: A retrospective analysis of medical records during years 2007-2011 considers maternal and fetal outcome in patients with breech presentation terminated by vaginal delivery versus caesarean section (CS). DESIGN: Retrospective analysis. SETTING: Department of Gynecology and Obstetrics, Jessenius Faculty of Medicine, Comenius University, Martin, Slovak Republic. METHODS: Authors devided patients with breech presentation of fetus (n = 299) to groups of single pregnancies terminated in term (n = 197), before term (n = 67) and to group of multiple pregnancies (n = 35). All groups were devided according to the way of termination of pregnancy by vaginal delivery, by acute CS and by planned CS. Main followed parameters: parity, gestational week, Apgar score, birth weight, birth length, fetal gender, indications for CS, mortality and neonatal morbidity, umbilical artery pH, convulsions, admit to neonatal intensive care unit, intubation of neonate, intracranial bleeding, cervical spine and peripheral nerve injuries. RESULTS: Total cohort of breech deliveries was 299. In the group of single pregnancies in term was 19.8% terminated by vaginal delivery (n = 39), 32.5% deliveries by acute CS (n = 64). The most common indication was fetal hypoxia (43.8%). By planned CS was terminated 47.7% deliveries (n = 94). The most common indication for CS was footling presentation (54.3%). Severe neonatal morbidity was rare and without significant difference according to the type of termination of pregnancy. Neonatal outcome was comparable in the group of preterm deliveries(n = 67) terminated by vaginal delivery or by CS. All neonatal deaths were associated with extreme prematurity and not with type of termination of gravidity. CONCLUSION: Clinical outcomes between vaginal breech deliveries and breech deliveries terminated by CS in term in singleton pregnancies were not significant different. Mortality of neonates delivered by preterm delivery was associated with severe prematurity.

• MeSH
• dospělí MeSH
• gestační stáří MeSH
• incidence MeSH
• lidé MeSH
• novorozenec nedonošený * MeSH
• novorozenec MeSH
• poloha plodu koncem pánevním epidemiologie   MeSH
• předčasný porod epidemiologie   etiologie   MeSH
• retrospektivní studie MeSH
• těhotenství MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH

Tumor protein p53 (TP53) is the most frequently mutated gene in cancer1,2. In patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high-risk disease3,4, rapid transformation to acute myeloid leukemia (AML)5, resistance to conventional therapies6-8 and dismal outcomes9. Consistent with the tumor-suppressive role of TP53, patients harbor both mono- and biallelic mutations10. However, the biological and clinical implications of TP53 allelic state have not been fully investigated in MDS or any other cancer type. We analyzed 3,324 patients with MDS for TP53 mutations and allelic imbalances and delineated two subsets of patients with distinct phenotypes and outcomes. One-third of TP53-mutated patients had monoallelic mutations whereas two-thirds had multiple hits (multi-hit) consistent with biallelic targeting. Established associations with complex karyotype, few co-occurring mutations, high-risk presentation and poor outcomes were specific to multi-hit patients only. TP53 multi-hit state predicted risk of death and leukemic transformation independently of the Revised International Prognostic Scoring System (IPSS-R)11. Surprisingly, monoallelic patients did not differ from TP53 wild-type patients in outcomes and response to therapy. This study shows that consideration of TP53 allelic state is critical for diagnostic and prognostic precision in MDS as well as in future correlative studies of treatment response.

• MeSH
• alely MeSH
• analýza přežití MeSH
• fenotyp MeSH
• frekvence genu MeSH
• kohortové studie MeSH
• lidé MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• myelodysplastické syndromy diagnóza   genetika   mortalita   terapie   MeSH
• nádorový supresorový protein p53 genetika   MeSH
• nestabilita genomu genetika   MeSH
• prognóza MeSH
• variabilita počtu kopií segmentů DNA genetika   MeSH
• výsledek terapie MeSH
• ztráta heterozygozity genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• nádorový supresorový protein p53 MeSH
• TP53 protein, human MeSH Prohlížeč

OBJECTIVE: Late presentation of the patients with human immunodeficiency virus (HIV) infection is associated with less favourable treatment responses, more accelerated clinical progression, and a higher mortality risk. Although HIV prevalence is low in Turkey, it is steadily increasing and the information about late presentation among HIV-positives is limited. We aimed to analyze the status of late presentation among HIV-positive patients in Turkey. METHODS: All newly diagnosed HIV/AIDS patients from 2003 to 2016 were enrolled in this study by five dedicated centres in Istanbul, Turkey. Demographic data, CD4+ counts, and HIV RNA were collected from medical records and were transferred to a HIV database system. Late pre- sentation was defined as presentation for care with a CD4 count < 350 cells/mm3 or presentation with an AIDS-defining event, regardless of the CD4 cell count. A medical literature search was done for the analysis of late presentation in Turkey. RESULTS: The cohort included 1,673 patients (1,440 males, median age 35 years). Among them, 847 (50.6%) had an early diagnosis, with a CD count of more than 350 cells/mm3. The remaining 826 were late presenters. Among late presenters, 427 (25.5% of all, 51.7% of late presenters) presented with advanced HIV disease. Late presenters were more elderly and less educated. The gender seemed comparable between groups. Late presentation was more likely among married patients. Early presenters were more likely among homosexuals, those diagnosed in screening studies, and in lower HIV-RNA viral load category. There has been a decreasing trend among late presenters in 2011-2016 when compared to 2003-2011 period. CONCLUSION: Current data suggest that half of HIV-infected patients present late in Turkey. In our cohort, those presented late were more elderly, less educated, married and had heterosexual intercourse. On admission, late presenters had more HIV-related diseases and were more likely in higher HIV-RNA category. In the cohort, men having sex with men were less likely late presenters. Efforts to reduce the proportion of late presentation are essential for almost every country. The countries should identify the risk factors of late presentation and should improve early diagnosis and presentation for HIV care.

• Klíčová slova
• acquired immunodeficiency syndrome, human immunodeficiency virus infection, late presentation,
• MeSH
• dospělí MeSH
• heterosexualita statistika a číselné údaje   MeSH
• HIV infekce * diagnóza   epidemiologie   MeSH
• lidé MeSH
• opožděná diagnóza * MeSH
• počet CD4 lymfocytů metody   MeSH
• rizikové faktory MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Turecko MeSH