48 research outputs found

    The Pathways of Double-Strand Break Repair

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    Priapism in an otherwise healthy man with SARS-COV-2: case report and literature review

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    COVID-19 disease causes acute respiratory infection – pneumonia. It is associated with an increased risk of complications such as hypercoagulopathy, which leads to thromboses. We present a case of a young man presenting with typical SARS-CoV-2 symptoms (fever, cough, fatigue, and dyspnea), who experienced ischemic priapism, most probably due to thrombosis of penile vessels caused by the novel coronavirus infection. After prompt treatment of the priapism with punctures and irrigation, lasting penile detumescence was achieved. However, despite younger age, lack of serious comorbidities and administration of anticoagulants, priapism was followed by a fatal pulmonary embolism some days later

    Neonatal urinoma associated with ascites in a newborn with a solitary kidney

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    Fetal urinomas are often diagnosed in prenatal ultrasonography. The etiology is usually an obstructive uropathy leading to hydronephrosis and increased intrarenal pressure putting future kidney function at risk. Rupture of pyelocaliceal system in such cases may lead to retroperitoneal urinoma or urinary ascites, sepsis, uraemia, and acute renal failure. On the other hand, this may serve as “pop-off valve” mechanism decreasing intrarenal pressure and protecting from definitive kidney function loss. We present a case of a newborn girl with a retroperitoneal urinoma, ascites, uraemia, and obstruction of a solitary right kidney, which was successfully treated minimally invasively through peritoneal and retroperitoneal drainage and intubation of the right ureter with a DJ stent shortly after birth

    Functional redundancy between DNA ligases I and III in DNA replication in vertebrate cells

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    In eukaryotes, the three families of ATP-dependent DNA ligases are associated with specific functions in DNA metabolism. DNA ligase I (LigI) catalyzes Okazaki-fragment ligation at the replication fork and nucleotide excision repair (NER). DNA ligase IV (LigIV) mediates repair of DNA double strand breaks (DSB) via the canonical non-homologous end-joining (NHEJ) pathway. The evolutionary younger DNA ligase III (LigIII) is restricted to higher eukaryotes and has been associated with base excision (BER) and single strand break repair (SSBR). Here, using conditional knockout strategies for LIG3 and concomitant inactivation of the LIG1 and LIG4 genes, we show that in DT40 cells LigIII efficiently supports semi-conservative DNA replication. Our observations demonstrate a high functional versatility for the evolutionary new LigIII in DNA replication and mitochondrial metabolism, and suggest the presence of an alternative pathway for Okazaki fragment ligation

    Primary renal echinococcosis – a rare location of hydatid disease

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    Hydatid disease is a condition affecting mainly the liver or, to a lesser extent, the lungs. We present an uncommon case of a primary renal echinococcosis in a young man complaining of intermittent hematuria, dull flank pain, and palpable mass in the left lumbar and lateral abdominal area which increases its size over time. After initial self-treatment with painkillers and antibiotics, the patient was referred to a urological clinic, where the physical examination revealed a large tumour mass in the left kidney. Ultrasound showed a large multilocular renal cyst, with a CT highly suspicious for renal echinococcosis (15×12.8×24.2 cm). Serological tests confirmed presence of IgG against Echinococcus. The patient was operated using the lumbar approach and nephrectomy was performed. The man recovered completely after surgery without the need for further treatment

    Surgical treatment of urethral stricture disease – the earlier, the better

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    Introduction: Surgical treatment of urethral strictures is a constantly evolving process. There are various treatment options like internal urethrotomy (IUT) and open surgery. A variety of techniques for urethral reconstruction are available (grafts, flaps, and excision-reanastomosis). Functional results of urethral reconstructive surgery are very satisfying and with low rate of complications.Aim: We assessed the early open surgical reconstruction in comparison with the continuation with the endourological treatment – IUTs.Materials and methods: The study included 129 patients with urethral strictures referred to our center. At that time point, they had received two unsuccessful IUTs and were divided into two groups – consecutive IUT and surgical repair, which included excision and reanastomosis or augmented urethroplasty. These patients were evaluated at 12 months using urethrography and uroflowmetry. Sexual function was evaluated using the international index of erectile function questionnaire 5-IIEF. Chi-squared test for statistical analysis was used.Results: Successful outcomes (urethrography presented equal caliber and Qmax was >15 ml/sec 12 months after the procedure) were achieved in 59 (88%) of the patients using reconstructive surgery versus 26 (41.9%) of the patients with consecutive IUT (p<0.001). Mild sexual dysfunction was reported by 12 (17.9%) patients from the group with open surgery and 7 (11.3%) from the group with continuous IUT (p=0.289).Conclusions: Early open surgery seems a reasonable solution to the problem of urethral strictures as there are only a few complications from this surgery and the functional results are satisfactory. The success rate using open surgery was found to be significantly greater than that in the consecutive IUT group, whereas no differences in the complication rates regarding sexual function were observed

    Necessities in the Processing of DNA Double Strand Breaks and Their Effects on Genomic Instability and Cancer

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    Double strand breaks (DSBs) are induced in the DNA following exposure of cells to ionizing radiation (IR) and are highly consequential for genome integrity, requiring highly specialized modes of processing. Erroneous processing of DSBs is a cause of cell death or its transformation to a cancer cell. Four mechanistically distinct pathways have evolved in cells of higher eukaryotes to process DSBs, providing thus multiple options for the damaged cells. The homologous recombination repair (HRR) dependent subway of gene conversion (GC) removes IR-induced DSBs from the genome in an error-free manner. Classical non-homologous end joining (c-NHEJ) removes DSBs with very high speed but is unable to restore the sequence at the generated junction and can catalyze the formation of translocations. Alternative end-joining (alt-EJ) operates on similar principles as c-NHEJ but is slower and more error-prone regarding both sequence preservation and translocation formation. Finally, single strand annealing (SSA) is associated with large deletions and may also form translocations. Thus, the four pathways available for the processing of DSBs are not alternative options producing equivalent outcomes. We discuss the rationale for the evolution of pathways with such divergent properties and fidelities and outline the logic and necessities that govern their engagement. We reason that cells are not free to choose one specific pathway for the processing of a DSB but rather that they engage a pathway by applying the logic of highest fidelity selection, adapted to necessities imposed by the character of the DSB being processed. We introduce DSB clusters as a particularly consequential form of chromatin breakage and review findings suggesting that this form of damage underpins the increased efficacy of high linear energy transfer (LET) radiation modalities. The concepts developed have implications for the protection of humans from radon-induced cancer, as well as the treatment of cancer with radiations of high LET

    Demographical development of Bulgaria during the transitional period

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    Since 1989, Bulgaria’s population faces a decrease, originally generated by a large number of ethnic Turks who emigrated to Turkey. In the period between 1988 and 2006, the decline reached approximately 1,2 million people. An estimated 71 % of this tendency is due to emigration process.The trends in the basic demographical parameters (birth rate, death rate and natural decrease) are quite negative. According to the official data, the negative balance of migration is over 800 000 people for the period 1989-2006. During the 1990s, as a result of the emigration of many young people and because of the economic crisis (especially in the years 1997 and 1998), birth rates fell down to reach levels of 7,7‰ (1997) to 7,9‰ (1998). But it is the death rate (14,7‰ in 2006), and not the birth rate, that shows significant difference compared to most EU countries. Infant mortality rate, although lowering its value, is still too high. Another difference is detected in measuring the life expectancy, which is significantly low.The demographic crisis is not only seen on a national scale, but on a regional level as well. With few exceptions, it has spread over each of the municipalities in the country, though with varying intensity and depth.Depuis 1989, la population bulgare connaît une crise qui trouve son origine dans le départ d’une grande partie des Turcs ethniques vers la Turquie. Entre 1988 et 2006, l’effondrement démographique a atteint 1,2 millions de personnes. Près de 71% de ce mouvement est dû à l’émigration.Les indicateurs démographiques de base (taux de natalité et de mortalité, accroissement naturel) sont négatifs. D’après les données officielles, la balance migratoire pour la période 1989-2006 est négative, à hauteur de 800 000 personnes. Au cours des années 1990, l’émigration d’un grand nombre de jeunes et la crise économique (surtout en 1997 et 1998) ont conduit à une chute des taux de natalité (7,7‰ en 1997 et 7,9‰ en 1998). Mais c’est le taux de mortalité (14,7‰ en 2006) et non la natalité qui démarque la Bulgarie de la plupart des autres pays de l’UE. Le taux de mortalité infantile, bien qu’en diminution, est toujours très élevé. Une autre différence réside dans l’espérance de vie, elle aussi significativement basse.La crise démographique n’est pas seulement abordée à l’échelle nationale, mais également au niveau régional. Cette crise s’est répandue, à quelques exceptions près, dans toutes les communes du pays, avec une intensité et une profondeur variables

    Initial experience in the field of pediatric percutaneous nephrolitholapaxia in Bulgaria

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    Introduction: Pediatric urolithiasis is a very specific and challenging problem in the field of modern urology. Currently, there are three major methods for kidney stone removal: the extracorporeal shock wave lithotripsy (ESWL), the retrograde intrarenal surgery (RIRS), and the percutaneous nephrolithotomy (PCNL), the latter one proving to be an efficient and safe monotherapy of stones even with larger burden. Different sizes of nephroscopes are used (standard, mini, micro), where smaller size is logically correlated with safer profile, especially in pediatric population.Aim: To analyze the initial experience in using PCNL in children for the treatment of kidney concrements – rates of successful stone removal and registered complications.Materials and methods: Twenty-six PCNL procedures of 25 children were performed – both standard and mini. The age ofpatients, size of the stones, operating time, changes in hemoglobin levels, duration of hospital stay, and the postoperative complications were recorded, analyzed and compared to data reported in current relevant literature.Results: The mean age of patients was 9±5.2 years (15 boys and 10 girls). The average size of concrements subjected to nephrolitholapaxia was 16±0.7 mm, most of the cases being single stones. The average operative time was 150±33.4 min, and the average hospital stay was 4.1±1.5 days. The percentage of stone free children postoperatively was 94%. Complications included blood loss requiring transfusion in 1 patient (4%), postoperative urinary tract infection and fever (2 patients), and self-limiting hematuria in 16%.Conclusions: PCNL is an effective and safe alternative in the management of nephrolithiasis in children. It is a method of choice for the treatment of concretions not suitable to treat with extracorporeal lithotripsy and after a qualitative selection of patients
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