CyDAS: a cytogenetic data analysis system

For statistical analyses in cancer cytogenetics, the genomic changes encoded by the karyotype must be translated into numerical codes. We developed a program, which extracts chromosomal gains and losses as well as breakpoints from the karyotype. The changes are compiled in tables according to the chromosome bands involved and/or depicted in projection to the respective chromosome ideogram. The data are ready to be integrated into further statistical analyses. The program may be run as desktop or Internet application.     

The desmoid tumor: "benign" neoplasm, not a benign disease

The desmoid tumor is a rare neoplasm which, because of its histopathologic appearance, has been traditionally considered to be benign. Despite its benign microscopic features, it has an aggressive local behavior and, if not excised adequately, has a tendency to recur locally and invade neighboring structures with significant potential for morbidity, deformity, or even death. Two cases of recurrent extraabdominal desmoid tumors are presented not only because they are highly representative of this disease, but also because they emphasize the need for aggressive surgical treatment. Also, they are unusual and challenging cases from a reconstructive standpoint. Based on this experience and on the most recent literature, we believe that this tumor, regardless of its microscopic features, should be addressed and treated as a malignancy.     

Expression of E-cadherin-catenin complex in human benign schwannomas

The Ca2+-dependent cell adhesion molecule E-cadherin has been known to express in normal and reactive Schwann cells in rodents, and to play an important role in Schwann cell-Schwann cell adhesion and maintenance of peripheral nervous tissue architecture. However, little is known about expression of E-cadherin in schwannomas. The aim of the present study was to investigate the cellular expression and localization of E-cadherin, and its associated protein, alpha E-, alpha N- and beta-catenins in human schwannomas, which are supposed to derive from Schwann cells. We tested the hypothesis that these proteins might show an altered expression/distribution in schwannoma cells which correlates with their neoplastic behavior, including sparse cell-cell contact, as seen those in meningiomas and various carcinomas. In human schwannomas, however, E-cadherin, alpha E-catenin, and beta-catenin were detected by western blotting and immunohistochemistry, whereas alpha N-catenin was not. Immunoprecipitation using anti-E-cadherin antibody resulted in alpha E-catenin forming a complex with E-cadherin. SSCP analysis revealed no mutations in the transmembrane domain or in intracellular catenin-binding site of E-cadherin. These data suggest that the E-cadherin-alpha E-catenin complex is well preserved in human schwannoma cells, which is compatible with its benign behavior, and these molecules might be used as additional cell markers of Schwann cell-derived tumors.     

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

Summary The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.     

Morphometric and meristic variation in ricefishes,genusOryzias: a comparison with cytogenetic data

Morphometric and meristic data from type and other material of ricefishes of the genusOryzias, particularly onO. latipes andO. curvinotus, were retaken to compare relationships of ricefishes indicated by morphological data with the relationships indicated by the cytogenetic analyses (Uwa, 1986). Along with morphometric and meristic characters traditionally used, two morphometric characters are useful for the classification of this genus: the relative length of the abdominal part and the relative position of the dorsal-fin origin. External anatomical data mostly agree with a classification of ricefishes based on karyology; although, like the cytogenetic data, they are not sufficient to distinguish all species, or to define monophyletic groups.Oryzias latipes is widespread in eastern Asia.Oryzias curvinotus, a name applied to ricefish from Hainan Island, is distributed more widely in southern China, including Hainan, Guangdong, Hong Kong, and Hanoi.     

The Golden-spectacled Warbler: a complex of sibling species, including a previously undescribed species

The Golden-spectacled Warbler, usually treated as a single species, Seicercus burkii , is widely distributed in mountains of southern Asia. We argue that it should be treated as five different species, one of which is described here for the first time. Two species occur in sympatry in the Himalayas. The other three species are found in eastern Asia, where all three are sympatric in China, and two of these breed sympatrically also in Vietnam. In Burma and adjacent parts of India, one of the Himalayan species is sympatric with one of the east Asian species. We describe differences in morphology, vocalizations, altitudinal distribution and habitat between these five species, as well as results from playback tests, which show that all sympatric taxa differ and appear to be reproductively isolated from each other.     

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.     

Meningioma presenting as a parapharyngeal tumor: report of a case with fine needle aspiration cytology

BACKGROUND: Meningiomas rarely extend out of their intracranial confines through skull foramina to present as cervical tumors, where they would be accessible to fine needle aspiration (FNA) and thereby create difficulties in cytodiagnosis by mimicking other, more commonly aspirated head and neck tumors. CASE: A psammomatous meningioma arising intracranially and extending through the jugular foramen presented as a mass at the angle of the jaw clinically. On FNA cytology the diagnosis was suggested, but the cytomorphologic features overlapped with those of more commonly aspirated head and neck tumors, such as acinic cell carcinoma arising primarily in a salivary gland, metastatic papillary thyroid carcinoma and paraganglioma (glomus jugulare tumor). These possibilities had to be excluded through correlation with radiologic and intraoperative findings, which showed a dural-based tumor extending through the jugular foramen to assume a parapharyngeal location. Histology of the final excision specimen confirmed a psammomatous meningioma. CONCLUSION: The possibility of meningioma should be considered in the cytologic differential diagnosis of parapharyngeal tumors, particularly since its cytomorphologic features may mimic those of some of the more commonly encountered and aspirated head and neck tumors.     

Aspiration and exfoliative cytology, including ultrastructure, of a malignant granular-cell tumor

The cytopathologic features of a malignant granular cell tumor in both exfoliative and aspiration cytopreparations included isolated cells with low nuclear-cytoplasmic ratios and abundant, diffusely granular cytoplasm. Transmission electron microscopy revealed the diagnostic secondary lysosomes in the neoplastic cells.     

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences,including SRY

Summary XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using molecular techniques, it is possible to detect Yp sequences in the majority of XX males. In this study, we could detect Y-specific sequences, including the sex-determining region of the Y chromosome (SRY), using fluorescence in situ hybridization. In 5 out of 6 previously unpublished XX males, SRY was translocated onto the terminal part of an X chromosome. This is the first report in which translocation of an SRY-bearing fragment to an X chromosome in XX males could be directly demonstrated.     

HC Forum: a web site based on an international human cytogenetic database

Familial structural rearrangements of chromosomes represent a factor of malformation risk that could vary over a large range, making genetic counseling difficult. However, they also represent a powerful tool for increasing knowledge of the genome, particularly by studying breakpoints and viable imbalances of the genome. We have developed a collaborative database that now includes data on more than 4100 families, from which we have developed a web site called HC Forum (http://HCForum.imag.fr). It offers geneticists assistance in diagnosis and in genetic counseling by assessing the malformation risk with statistical models. For researchers, interactive interfaces exhibit the distribution of chromosomal breakpoints and of the genome regions observed at birth in trisomy or in monosomy. Dedicated tools including an interactive pedigree allow electronic submission of data, which will be anonymously shown in a forum for discussions. After validation, data are definitively registered in the database with the email of the sender, allowing direct location of biological material. Thus HC Forum constitutes a link between diagnosis laboratories and genome research centers, and after 1 year, more than 700 users from about 40 different countries already exist.     

Genotyping of sex hormone-related pathways in benign and malignant human prostate tissues: data of a preliminary study

Prostate cancer (PCa) is a major health issue in Westernized countries, representing a common cause of morbidity and mortality in the elderly male population. Endogenous sex steroids, along with environmental factors (notably diet) and host immune and inflammatory responses, are likely to cooperate in the pathogenesis of the disease. Based on the assumption that a complex endocrine-inflammatory-immune interaction is primarily implicated in human PCa, we have investigated the interplay between sex steroids and inflammation in development and growth of human PCa. To this end, we have assessed nine functional single nucleotide polymorphisms (SNP)s of five genes involved in sex hormone-related pathways in both hyperplastic and malignant human prostate tissues, as well as in matched controls and in a "supercontrol" group composed of male Sicilian centenarians. In particular, the following genes were investigated: AR-OMIM313700, SRD5A2-NM-000348, CYP19-NM-031226, ERS1-NM-001122742, ERS2-NM-001040276. A significant association with PCa was found in seven out of the nine SNPs considered. Although this is a preliminary study and larger investigations are needed to confirm the role of these genes in PCa development and/or progression, our data might provide an experimental basis to develop additional or alternative strategies for prevention and treatment of PCa.     

First cytogenetic studies of the genus Heptapterus (Actinopterygii, Siluriformes): karyotype differentiation and review of cytogenetic data on the Heptapteridae family

The Neotropical fish Heptapterus mustelinus, collected in the Pindorama stream of the upper Paraná River basin (Brazil), was studied cytogenetically, verifying 54 chromosomes (26m + 18m + 4st + 6a). This diploid number has not been reported among the Heptapteridae that have been studied to date. Unlike most species of the family, there were multiple Ag-nucleolar organizer regions (NOR) and heterochromatin present in the centromeric region of most of the chromosomes of the complement, being Chromomycin A(3) (CMA(3) (+) )/4',6-diamidino-2-phenylindole (DAPI(-) ) in nine chromosomal pairs, besides the one that coincides with the Ag-NORs. The data presented in this work reveal a different path in the karyotypic evolution of H. mustelinus when compared to the others Heptapteridae genera.     

Effect of human leukocyte interferon on human lymphocytes in vitro: cytogenetic studies

Mitogen-stimulated lymphocytes from 8 healthy donors were exposed to interferon, and cytogenetic studies were preformed. The response of lymphocytes to the mitogens phytohemagglutinin (PHA), concanavalin A (con A) and pokeweed mitogen (PWM) was inhibited by interferon, whereas an increased number of structural chromosomal aberrations was not detected. Further investigations of the cytogenetic effects of interferon are needed.     

MOLE: a data management application based on a protein production data model

MOLE (mining, organizing, and logging experiments) has been developed to meet the growing data management and target tracking needs of molecular biologists and protein crystallographers. The prototype reported here will become a Laboratory Information Management System (LIMS) to help protein scientists manage the large amounts of laboratory data being generated due to the acceleration in proteome research and will furthermore facilitate collaborations between groups based at different sites. To achieve this, MOLE is based on the data model for protein production devised at the European Bioinformatics Institute (Pajon A, et al., Proteins in press).     

Aging of human skin: review of a mechanistic model and first experimental data

The physical, chemical, and biochemical factors that accelerate skin aging have been proposed to activate a self-maintained microinflammatory process, one of the expected end results of which is an imbalance in the turnover of macromolecules in the dermis. Surface peroxides are recognized as controllable factors of skin aging, and their accumulation is attributed to environmentally induced impairment of defense enzymes. Topical application of antioxidants decreases the rate at which skin elasticity and skin thickness are modified.