Search results for "aberrations"
showing 10 items of 192 documents
Analysis of extended genomic rearrangements in oncological research.
2007
Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two a…
Pseudo-exclusion from paternity due to maternal uniparental disomy 16.
1998
The investigation of a case of disputed paternity revealed indirect exclusion of the alleged father in the haptoglobin system and in the DNA single-locus system D16S309/Hinf I (MS205). The paternity index for the non-exclusion systems was > 10(6). Since both exclusion systems (HP and MS205) are located on chromosome 16, we investigated 10 microsatellite loci covering this chromosome with 10-20 cM resolution. Analysis of the child's chromosome showed only alleles of maternal origin and lack of inheritance of paternal alleles for five informative loci. The markers close to the centromere of chromosome 16 were heterozygous, whereas distal loci were either heterozygous or homozygous for materna…
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
2011
CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli
Genetics of hepatocellular carcinoma.
2007
The completely assembled human genome has made it possible for modern medicine to step into an era rich in genetic information and high-throughput genomic analysis. These novel and readily available genetic resources and analytical tools may be the key to unravel the molecular basis of hepatocellular carcinoma (HCC). Moreover, since an efficient treatment for this disease is lacking, further understanding of the genetic background of HCC will be crucial in order to develop new therapies aimed at selected targets. We report on the current status and recent developments in HCC genetics. Special emphasis is given to the genetics and regulation of major signalling pathways involved in HCC such …
Topoisomerase II inhibition and high yield of endoreduplication induced by the flavonoids luteolin and quercetin
2006
Luteolin and quercetin are widely distributed plant flavonoids that possess a variety of chemical and biological activities, including free-radical scavenging and antioxidant activity. Recently, both flavonoids have been reported to inhibit DNA topoisomerases I and II (topo I and topo II), a property that, together with their ability to induce DNA and chromosome damage, has made them candidate anticancer compounds. In the present study, we confirmed that both compounds are topo II inhibitors by conducting a comparative study of their effect on topo II activity from Chinese hamster ovary AA8 cells. Because interference with the function of topo II to resolve DNA entanglement at the end of re…
Immunohistochemical Study as a Tool in Differential Diagnosis of Pediatric Malignant Rhabdoid Tumor
2010
Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alter…
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
2016
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…
Loss of heterozygosity at the short arm of chromosome 3 in renal‐cell cancer correlates with the cytological tumour type
1993
A majority of renal-cell tumours retain heterozygosity at the short arm of chromosome 3. To investigate possible histopathological differences between tumours with and without such losses, we compared loss of heterozygosity data from 51 tumours with 1 histological and 2 different cytological classifications of renal-cell tumour. Using the cytological classification of Thoenes et al., we only found tumours with loss of heterozygosity in these authors' clear-cell category. Possibly, only these tumours arise by a mechanism of double loss of a tumour-suppressor gene on 3p, non-clear-cell renal tumours having a different genetic background. Alternatively, deletions may occur in all subtypes, in …
Individuālu mīksto kontaktlēcu pielietojums acs aberāciju kompensācijai
2017
Darbs uzrakstīts angļu valodā uz 63 lapām. Tas satur 46 attēlus, 1 tabulu un 53 atsauces uz literatūras avotiem. Mērķis. Novērtēt agstāko kārtu aberāciju (HOA) ietekmi uz redzes funkcijām un acs optisko kvalitāti FOOT kontaktlēcu (KL) nēsātājiem. Metodes. Tika izmērīts redzes asums gadījumos (RA), kad acī ievietotas FOOT KL un parastās gāzu caurlaidīgās KL. Tika izmērītas visas aberācijas (TA) un HOA gadījumā, kad ievietotas abu veidu lēcas. Rezultāti. FOOT KL gadījumā RA bija tāds pats kā parasto KL gadījumā, vai augstāks (p<.01). FOOT KL gadījumā TA un HOA līmenis bija tāds pats kā parasto KL gadījumā, vai mazāks (p-value < .01). Secinājumi. FOOT KL sniedz augstāku RA nekā parastās KL un …
Brancati su Pirandello e il pirandellismo
2019
Nel romanzo breve "Sogno di un valzer" uscito a puntate su “Quadrivio”, dal 5 giugno al 14 agosto 1938, Vitaliano Brancati mette in scena, tra osservazione dei luoghi e rilevamento di costume, un’umanità fuori misura, continuamente in bilico tra realtà e sogno. A Caltanissetta (Nissa) la città nel cui Istituto magistrale lo scrittore, voltate le spalle alla Roma fascista, è venuto a insegnare, personaggi non appariscenti, insignificanti, che tuttavia covano desideri, si arrovellano in domande metafisiche. Prende così forma il leitmotiv delle critica al pirandellismo che più volte con ironia sottile affiora negli scritti brancatiani. Il saggio mostra come esso si intrecci con la comicità sul…