A Large Adnexal Tumor Caused by Enterobius Vermicularis Mimicking Malignancy.

Enterobius vermicularis usually causes trivial infections in the juvenile population. However, its extragenital presentation in adults is relatively rare. We present the case of a 64-year-old female suffering from poorly controlled diabetes and lower abdominal pain. CT scan showed a large tumorous expansion of the lower abdomen, mimicking malignancy. Perioperative findings revealed a large adnexal tumor adhering to the rectum. In addition, the histological examination uncovered a mixed inflammatory infiltrate with multiple surrounding eggs of the parasite and granulomatous reaction in the left fallopian tube and left ovarian cortex. As reported in our article, the rare ectopic sites of Enterobius vermicularis in postmenopause may become a diagnostic challenge.

Splenic abscess as a rare symptom of the extrapulmonary tuberculosis - case report.

INTRODUCTION: Extrapulmonary tuberculosis can involve any organ or tissue. It is a rare disease in the Czech Republic with an incidence rate of 0.62 cases per 100.000 persons. It affects mostly immunocompromised patients. The most common sites include lymph nodes, the urogenital system, skin, joints, bones and serous epithelium - the peritoneum, pleura, and pericardium. Splenic involvement is rare. Mycobacterium is a slow growing intracellular parasite. The diagnostic process is very difficult; microbiological diagnosis is critical. CASE REPORT: An 84 years old female patient with subcapsular splenic rupture with no trauma history as a cause of anemia. Splenic abscess was diagnosed during surgical revision and splenectomy. Tuberculosis was suspected based on subsequent histological analysis, which was confirmed after nine weeks of peritoneal fluid culture. The surgical procedure and postoperative hospitalization were not associated with any complications. The patient was referred to the respiratory clinic for further treatment. CONCLUSION: The diagnosis of extrapulmonary tuberculosis including splenic localization should always be considered. A sample from the affected tissue or effusion must be collected in the case of unclear perioperative findings and sent for complete bacteriological testing, including mycobacterial culture. If a tuberculous splenic abscess is found, the therapeutic process should involve its complete drainage in combination with long-term anti-TB medication.

[The reasons of changes in revised staging for carcinoma of the vulva]. / Duvody zmen ve stagingu karcinomu vulvy.

BACKGROUND: Review of revised staging system for vulva, explaining the changes of staging and their impact on the prognosis of disease is presented. AIM: The main objectives of a reliable staging system include an assessment of prognosis, planning treatment, and the evaluation of their outcomes. A good staging system must meet three basic characteristics: validity, reliability and practicality. Since medical research and practice in the field of oncology have shown explosive growth, the staging of vulvar cancer and some other cancers did not give a good spread of prognostic groupings. Changes based on new findings were proposed in 2008 by the FIGO Committee on Gynecologic Oncology, approved, and published a year later the changes in the staging system for carcinoma of the vulva. Stage 0 was deleted, since it represents preinvasive lesion. Stage IA remained unchanged and stage I and II were combined. The number and morphology of the involved nodes were taken into account, and the bilaterality of positive nodes has been discounted. CONCLUSION: The purpose of a good staging system is to offer a classification of the extent of gynecological cancer, in order to provide a method of conveying ones clinical experience to others for the comparison of different treatment methods. As a result of the explosion of medical research in the field of oncology, the staging of some of the gynecological cancers became outdated and did not give a good spread of prognostic groupings. According to the revised staging for carcimona of the vulva, patients are divided to groups with similar prognosis. Therefore, exchange of relevant information between oncological centers is facilitated, thus disseminating knowledge and stimulating research in other parts of the world.

Regulation of adipocyte differentiation.

Once multipotent mesenchymal cells become committed to the adipoblast lineage, adipogenesis, the process of preadipocytes differentiation into adipocytes is initiated. This process starts with a phase of exponential growth of adipoblasts. Following confluence of these adipoblasts, the cells enter into a cell cycle arrest, they re-enter the cell cycle and pass through a limited number of cell divisions, and finally differentiate into fully mature adipocytes. Adipogenesis is controlled by a complex cross-talk between positive and negative regulators, such as hormonal and nutritional stimuli, that change the activity of a selected set of transcription factors. Regulation of adipogenesis is crucial to keep the body energy balance because a limited amount of adipose tissue, lipodystrophy, or an excess of adipose tissue, such as occurs in obesity, lead to profound metabolic dysfunctions and disease.

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost all cases by homozygous intronic expansions resulting in the loss of frataxin, a mitochondrial protein conserved through evolution, and involved in mitochondrial iron homeostasis. Yeast knockout models, and histological and biochemical data from patient heart biopsies or autopsies indicate that the frataxin defect causes a specific iron-sulfur protein deficiency and mitochondrial iron accumulation leading to the pathological changes. Affected human tissues are rarely available to further examine this hypothesis. To study the mechanism of the disease, we generated a mouse model by deletion of exon 4 leading to inactivation of the Frda gene product. We show that homozygous deletions cause embryonic lethality a few days after implantation, demonstrating an important role for frataxin during early development. These results suggest that the milder phenotype in humans is due to residual frataxin expression associated with the expansion mutations. Surprisingly, in the frataxin knockout mouse, no iron accumulation was observed during embryonic resorption, suggesting that cell death could be due to a mechanism independent of iron accumulation.

zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells.

We have observed that 2 forms of zonula occludens 2 (ZO-2) protein, ZO-2A and ZO-2C, are expressed in normal human pancreatic duct cells, but only ZO-2C in pancreatic duct adenocarcinoma. We report here partial organization of the zo-2 gene. Transcription of 2 forms of ZO-2 mRNA is driven by alternative promoters P(A) and P(C). Lack of expression of ZO-2A in neoplastic cells is caused by inactivation of the downstream promoter P(A). Analysis of the promoter P(A) sequence and function in normal and neoplastic cells demonstrated that neither structural changes (mutations) nor a change in the pool of transcription factors is responsible for its inactivation. Although hypermethylation was found in a large number of cancer clones, treatment with 5-aza-2'-deoxycytidine did not fully cause the promoter function to recover. We conclude that the initial down-regulation of zo-2 promoter P(A) activity in pancreatic duct carcinomas is due to the structural or functional alteration(s) in the regulatory elements, localized outside the analyzed promoter region. Methylation of P(A) is responsible for the inactivation of the suppressed promoter at the late stages of tumor development.

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA) and which is associated with abnormal intramitochondrial iron handling. We identified the mitochondrial processing peptidase beta (MPPbeta) as a frataxin protein partner using the yeast two-hybrid assay. In in vitro assays, MPPbeta binds frataxin which is cleaved by the reconstituted MPP heterodimer. MPP cleavage of frataxin results in an intermediate form (amino acids 41-210) that is processed further to the mature form. In vitro and in vivo experiments suggest that two C-terminal missense mutations found in FRDA patients modulate interaction with MPPbeta, resulting in a slower maturation process at the normal cleavage site. The slower processing rate of frataxin carrying such missense mutations may therefore contribute to frataxin deficiency, in addition to an impairment of its function.

Conserved expression of a TASSELSEED2 homolog in the tapetum of the dioecious Silene latifolia and Arabidopsis thaliana.

To investigate the genetics of male sex determination and stamen development in the dioecious plant Silene latifolia (white campion), male-specific transcripts were isolated from developing flowers by cDNA subtraction. One of the cDNAs identified, STA1, had high DNA and amino acid sequence homology to the male sex determining gene of Zea mays (maize), TASSELSEED2. Both genes are expressed in male and not in female flowers, However, they do not share the same expression pattern. The TASSELSEED2 gene product is expressed in the gynoecium primordia of male maize flowers where it is necessary for pistil abortion. STA1 is not expressed in the gynoecium primordia of male white campion and therefore its gene product cannot perform the same function in sex determination that TASSELSEED2 performs in maize. STA1 is expressed in tapetal cells of white campion male flowers and of white campion hermaphroditic mutants. A homologous gene is also expressed in the tapetum of hermaphroditic Silene species. Tapetal expression of a homologous gene (named ATA1) was also found in Arabidopsis thaliana. The similarity in primary sequence and expression pattern of STA1 and ATA1 indicate that these genes have a conserved role in tapetum development.

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected from the pathology of the disease. Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate, including liver, kidney, brown fat and heart. We found that mouse and yeast frataxin homologues contain a potential mitochondrial targeting sequence in their N-terminal domains and that disruption of the yeast gene results in mitochondrial dysfunction. Finally, tagging experiments demonstrate that human frataxin co-localizes with a mitochondrial protein. Friedreich's ataxia is therefore a mitochondrial disease caused by a mutation in the nuclear genome.

Isolation and characterization of X chromosome-derived DNA sequences from a dioecious plant Melandrium album.

A number of X chromosome DNA sequences have been isolated from a dioecious plant, Melandrium album (syn. Silene latifolia), using chromosome microdissection followed by degenerate oligonucleotideprimed polymerase chain reaction (DOP-PCR) amplification. Six DNA clones were selected and further characterized by DNA/DNA hybridization techniques to check their copy numbers, sex-specific methylation patterns, species specificity and positions on chromosomes. These clones were moderately to highly repetitive (approximately 10(3)-10(5) copies per haploid genome) and none of them gave a positive signal on Northern blots. One of the clones yielded a sex-specific methylation pattern: its abundant non-methylated CCGG island was found only in males. All the clones also hybridized to two closely related dioecious Melandrium species (M. rubrum and M. dicline). Nucleotide sequences of two X-derived clones showed a number of internal short direct repeats; one of them strikingly resembled a plant conservative telomere sequence (TTTAGGG). None of the clones hybridized to the X chromosome only, but all were localized at the telomeric heterochromatic regions (DAPI C-bands) of both arms of a vast majority of M. album chromosomes using the fluorescence in situ hybridization (FISH) technique. However, the non-homologous arm of the Y chromosome (contrary to the arm homologous to the X chromosome, possessing the pseudoautosomal region) showed neither a DAPI C-banding-stained heterochromatin nor a FISH signal with any of the DNA probes tested, thus indicating its evolutionary diversification.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.