ABSTRACT
Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it is important to understand the cellular consequences of this extra marker, as well the factors that contribute to their maintenance or elimination through successive cell cycles and phenotypic impact. The study of chromosomal mosaicism provides a natural model to characterize the effect of aneuploidy on genome stability and compare cells with the same genetic background and environment exposure, but differing in the presence of sSMC. Here, we report the functional characterization of different cell lines from two familial patients with mosaic sSMC derived from chromosome 12. We performed studies of proliferation dynamics, stability, and variability of these cells using fluorescent in situ hybridization (FISH), sister chromatid exchanges (SCE), and conventional staining. We also quantified the telomere-related genomic instability of sSMC cells using 3D telomeric profile analysis by quantitative-FISH. sSMC cells exhibited differences in the cell cycle dynamics compared to normal cells. First, the sSMC cells exhibited lower proliferation index and higher frequency of SCE than normal cells, associated with a higher level of chromosomal instability. Second, sSMC cells exhibited more telomeric-related genomic instability. Lastly, the differences of sSMC cells distribution among tissues could explain different phenotypic repercussions observed in patients. These results will help in our understanding of the sSMC stability, maintenance during cell cycle, and the cell cycle variables involved in the different phenotypic manifestations.
ABSTRACT
Few data are available in the literature concerning the efficacy of standard hysteroscope disinfection procedures to prevent hepatitis B transmission. The aim of the present study was to determine the risk of hepatitis B virus (HBV) transmission during hysteroscopy among anti-HBc-seropositive women. Serum and hysteroscopic samples were collected from 62 women after diagnostic hysteroscopy. All samples were tested for serologic HBV markers. Polymerase chain reactions (PCR) were carried out to amplify regions C and S of the viral genome and only samples amplified by both pairs of primers were considered to be positive. Anti-HBc was repeatedly reactive in 48 (77 percent) of 62 serum samples, and HBsAg was detected in 8 (13 percent). At least one HBV serologic marker was found in 49 (79 percent) samples. Only one sample was HBsAg positive and anti-HBc negative. HBV-DNA was detected by PCR in 7 serum samples but in only 3 hysteroscopic samples obtained just after hysteroscopy. It is noteworthy that high levels of anti-HBc IgM were detected in one HBsAg-negative patient who showed an HBV-DNA-positive hysteroscopic sample. An elevated sample/cut-off ratio for anti-HBc IgM suggests recent infection and reinforces the need for testing for HBsAg and anti-HBc before hysteroscopy, since acute hepatitis B can be clinically asymptomatic. Viral DNA was not detected in any hysteroscopic samples collected after washing and disinfecting procedures with glutaraldehyde. We conclude that HBV-DNA can be found in the hysteroscope soon after hysteroscopy, but standard disinfecting procedures are effective in viral removal.
Subject(s)
Humans , Female , Disinfection , Hepatitis B , Hepatitis B Antibodies , Hepatitis B virus , Hysteroscopy , Biomarkers , DNA, Viral , Risk FactorsABSTRACT
O clínico deve estar ciente das diferentes formas de tratamento para a impacçäo de caninos superiores. Uma revisäo das técnicas cirúrgicas, bem como das indicaçöes para cada caso, é o objetivo deste trabalho. Um dos aspectos a se destacar é o da participaçäo de vários profissionais, considerando o diagnóstico e o tratamento
Subject(s)
Humans , Male , Female , Cuspid , Orthodontics, Corrective , Tooth, Impacted/diagnosis , Tooth, Impacted/surgery , Tooth, Impacted/therapyABSTRACT
Durante 1978 e 1982, 522 pacientes submeteram-se à laparoscopia na Clínica Ginecológica da Universidade de Säo Paulo. Da análise dos resultados obtidos, os autores concluíram que a laparoscopia é recurso propedêutico indispensável para o diagnóstico de certas ginecopatias e sobretudo na investigaçäo da esterilidade. Em 244 pacientes com presumível ginecopatia, 69 (28,3%) tinham pelvis normal. Nas demais 175 (71,7%) a laparoscopia permitiu o diagnóstico correto, seja por visäo direta ou biópsia laparoscópica. Em 43 mulheres referindo algia pélvica crônica e exame ginecológico normal, 18 (41,9%) eram portadoras de ginecopatias compatíveis com a sintomatologia. De 183 pacientes com esterilidade,somente 20 (10,9%) tinham achados laparoscópicos normais.. Em 163 (89,1%), pôde-se diagnosticar fator tubário (35%) endometriose pélvica (5,5%) e esterilizaçäo prévia (13,6%). Das 95 pacientes submetidas à esterilizaçäo, 68 (71,6%) tinham enfermidades sistêmicas graves, indicando-se esterilizaçäo tubária por via laparoscópica. O índice de falha, neste grupo, foi de 2,1%. Näo se registraram óbitos e tampouco graves complicaçöes na presente casuística