Search results for "Aberration"
showing 10 items of 293 documents
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 …
Exploring the atomic structure of 1.8 nm monolayer-protected gold clusters with aberration-corrected STEM
2017
Abstract Monolayer-protected (MP) Au clusters present attractive quantum systems with a range of potential applications e.g. in catalysis. Knowledge of the atomic structure is needed to obtain a full understanding of their intriguing physical and chemical properties. Here we employed aberration-corrected scanning transmission electron microscopy (ac-STEM), combined with multislice simulations, to make a round-robin investigation of the atomic structure of chemically synthesised clusters with nominal composition Au 144 (SCH 2 CH 2 Ph) 60 provided by two different research groups. The MP Au clusters were “weighed” by the atom counting method, based on their integrated intensities in the high …
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…
Moderate ovarian stimulation does not increase the incidence of human embryo chromosomal abnormalities in in vitro fertilization cycles.
2012
A high chromosomal abnormalities rate has been observed in human embryos derived from in vitro fertilization (IVF) treatments. The real incidence in natural cycles has been poorly studied, so whether this frequency may be induced by external factors, such as use of gonadotropins for ovarian stimulation, remains unknown.We conducted a prospective cohort study in a University-affiliated private infertility clinic with a comparison between unstimulated and stimulated ovarian cycles in the same women. Preimplantation genetic screening by fluorescence in situ hybridization was performed in all viable d 3 embryos.The primary objective was to compare the incidence of embryo chromosomal abnormaliti…
Visual and optical performance with hybrid multifocal intraocular lenses
2010
During the past years, the wish to become independent of spectacles has been growing among cataract and presbyopic patients due to many factors, such as the increase in near visual demands, the aesthetic need for a spectacle-free image and ageing of refractive surgery patients, among others. This review assesses recently published studies that analyse visual and optical performance through different metrics of eyes implanted with multifocal intraocular lenses (IOLs), particularly hybrid IOL designs. The published evidence suggests that hybrid multifocal IOLs provide very good outcomes in a number of visual and optical performance parameters. Patients implanted with this type of IOL obtain a…
Acs aberāciju un gaismas izkliedes ietekme uz redzes kvalitāti.
2020
Darbs ir uzrakstīts angļu valodā 66 lapām. Tā satur 33 attēlus, 3 tabulas, 8 grafiki un 121 atsauces uz literatūras avotiem. Mērķis. Izpētīt saistību starp cilvēka redzi un acs iekšējo gaismas izkliedi un mēģināt saprast, vai intraokulārā gaismas izkliede ietekmē acs aberācijas. Izpētīta Strehl koeficientu normalitāte. Metodes. Redzes asumu un jutīgumu pret kontrastu novērtē parastā stāvoklī un ar 3 dažādiem izkliedes filtriem 10 jaunu un veselīgu acu grupai. Pašizveidota modeļa acs viļņu frontes kļūdas tiek izmeklētas ar izkliedes filtriem un bez tiem. Rezultāti. Redzes asums un jutība pret kontrastu ir sliktāka, ja izkliedēšanas filtri tiek novietoti subjekta acu priekšā (p <.05). VA iete…
Concentration-Dependent Protection by Ethanol Extract ofPropolis against γ
2011
[EN] Radioprotection with natural products may be relevant to the mitigation of ionizing radiation-induced damage in mammalian systems; in this sense, propolis extracts have shown effects such as antioxidant, antitumoral, anti-inflammatory, and immunostimulant. We report for the first time a cytogenetic study to evaluate the radioprotective effect, in vitro, of propolis against radiation-induced chromosomal damage. Lymphocytes were cultured with increasing concentrations of ethanol extract of propolis (EEP), including 20, 40, 120, 250, 500, 750, 1000, and 2000 ¿g mL-1 and then exposed to 2 Gy ¿-rays. A significant and concentration-dependent decrease is observed in the frequency of chromoso…