1,721,016 research outputs found
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
No full textReiner et al. (1995b) reported on the existence of a gene with a coding region virtually identical to LIS1, the gene responsible for Miller-Dieker lissencephaly. This gene, LIS2, was mapped to chromosome 2p11.2, and a related pseudogene, LIS2P, was mapped to 2q13→q14. By sequencing genomic clones that were mapped by means of 2p and 2q-only hybrids, we now demonstrate the existence of two LIS1 processed pseudogenes mapping to 2p11.2 and 2q13 (PAFAH1P1 and PAFAH1P2, respectively). The two sequences appear to lie within larger paralogous regions and share a 98.6% degree of identity. Comparative mapping data by cytogenetic analysis on great apes indicate that the duplication of the genomic region comprising the LIS1 pseudogenes occurred in humans. We also demonstrate that the cDNA sequence shown as part of the LIS2 gene and marking its chromosome 2 specificity belongs to the 3' untranslated region of a different gene (C1orf6) that we mapped to 1q21 by FISH analysis
A PNA-mediated clamping PCR for routine detection of KRAS mutations in colorectal carcinoma
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Carcinoma showing thymus-like differentiation (CASTLE): a case report
No full textINTRODUTION: Carcinoma showing thymus-like differentiation (CASTLE) is a rare malignant thyroid cancer. We report a case of CASTLE treated with surgery and adjuvant external neck radiation therapy.MATERIALS AND METHODS: We experienced a case of CASTLE in a 63-year-old man, who presented with a neck mass due to enlarged and hard thyroid gland, most notably in the right lobe, without palpable cervical nodes.RESULTS: Total thyroidectomy was performed for both diagnostic and therapeutic purposes. Histologic examination of the specimen showed a "thymus like" thyroid cancer; the tumor, partially circumscribed, lobulated, involved both lobes, and in more points reached the capsule of the organ and infiltrated perithyroid muscle tissue. After immunohistochemical assay (CK19 +, CK20 -, thyroglobulin -, calcitonin -, CD5 +, CD117 +), a diagnosis of CASTLE was made.DISCUSSION: CASTLE is a rare, malignant tumour of the thyroid gland, with histopathological features similar to squamous cell carcinoma, but with a more favourable prognosis. Preoperative diagnosis is difficult. CASTLE is usually cured surgically with total thyroidectomy and selective neck dissection, followed by radiotherapy.CONCLUSIONS: Surgery and radiotherapy are effective to manage thyroid CASTLE tumors
Neck node dissection in thyroid cancer. A review
Full text linkI carcinomi della tiroide metastatizzano frequentemente ai linfonodi cervicali e poichè il trattamento chirurgico standard prevede la tiroidectomia totale con linfoadenectomia secondo l'istotipo del tumore, scopo della nostra revisione della letteratura è valutare i potenziali rischi e benefici della linfoadenectomia associata alla tiroidectomia totale.
Pazienti e metodi. Sono state valutate le differenze tra la linfoadenectomia profilattica e terapeutica in termini di morbidità post-operatoria, recidiva e sopravvivenza.
Discussione. Ad oggi non c'è concordanza sul trattamento dei pazienti con metastatsi ai linfonodi cervicali, specialmente in quelli con neoplasie tiroidee differenziate. Considerando che la dissezione linfonodale del collo può aiutare a ridurre la recidiva locale, specialmente davanti a carcinomi midollari della tiroide, controversie rimangono comunque sul tipo di linfoadenectomia da eseguire. Sono descritte linfoadenectomie profilattiche e dissezioni solo nei pazienti sintomatici, la tecnica “node-picking” e quella del linfonodo sentinella, che possono essere utilizzate in sinergia. Va ricordato però il rischio di danno iatrogenico alle strutture nervose (nervo laringeo inferiore e nervo accessorio spinale) specie nei reinterventi.
Conclusioni. L’estensione della linfoadenectomia laterocervicale e l'esperienza del chirurgo sono fondamentali nel determinismo del rischio chirurgico stesso e nella incidenza di recidive e la decisione di eseguire una linfoadenectomia deve considerare i potenziali vantaggi e svantaggi, poiché lesioni nervose sono spesso causate da tecnica inadeguata o da poca esperienza dell'équipe chirurgica. Siamo certi che una profonda conoscenza anatomo-chirurgica delle regioni del collo sia fondamentale per potere eseguire in sicurezza la dissezione dei linfonodi del collo, indipendendentemente dall'istotipo della neoplasia
Voriconazole in the management of invasive aspergillosis in two patients with acute myeloid leukemia undergoing stem cell transplantation
No full textGoing Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Linkage analysis in informative families for the identification of disease genes in the post-genoma era | L{'}analisi di linkage in famiglie informative per l{'}identificazione di geni malattia nell{'}era post-genoma
No full textDuring the last few years, the identification and characterization of disease genes has become the main approach to understanding the role of specific genes in the pathogenesis of inherited disorders. Several strategies have been developed to identify novel disease genes. As the Human Genome Project finishes off the sequence of the human genome and the 30000-35000 genes estimated to be present in our genome are identified, the "positional candidate gene approach" will be the elective strategy in the correlation of a gene with a specific clinical phenotype. In the positional candidate gene approach, the genetic mapping of a locus is the first step for searching a disease gene. In fact, when a new disease gene is assigned to a specific locus in the genome, it will be easy to search in the database the genes isolated from the same region which will be candidate as responsible for the disorder. In this respect, the collection of informative families with recurrence of specific genetic disorders in one hand and the genetic mapping of these inherited diseases on the other hand assume a relevant importance in order to identify new disease genes
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