RESUMO
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions-MLRB2 in α1(I) and MLBR 3 in α2(I)-could significantly predict DI (P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.
Assuntos
Cadeia alfa 1 do Colágeno Tipo I , Colágeno Tipo I , Dentinogênese Imperfeita , Osteogênese Imperfeita , Humanos , Colágeno Tipo I/genética , Dentinogênese Imperfeita/genética , Estudos de Associação Genética , Mutação , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genéticaRESUMO
Foram avaliadas possíveis alterações cardiorrespiratórias e no índice biespectral em cães anestesiados pelo isofluorano, associado ou não ao tramadol. Utilizaram-se 16 animais, distribuídos em dois grupos denominados GC (grupo-controle) e GT (grupo tramadol). Todos os cães foram induzidos e mantidos sob anestesia com isofluorano. Os animais do GC receberam 0,05ml/kg de solução salina a 0,9 por cento e os do GT 2mg/kg de tramadol, ambos por via intramuscular. Foram avaliados: freqüência cardíaca, pressão arterial sistólica, diastólica e média, eletrocardiografia, freqüência respiratória, saturação de oxiemoglobina, concentração de dióxido de carbono ao final da expiração, índice biespectral e recuperação da anestesia. Concluiu-se que a administração de tramadol em cães anestesiados pelo isofluorano não produz alterações nas variáveis cardiorrespiratórias, no índice biespectral e no tempo de recuperação da anestesia, porém proporciona boa qualidade de recuperação anestésica.
It was studied fortuitous cardiorespiratory and bispectral index changes in dogs anesthetized with isoflurane associated or not to tramadol. Sixteen dogswere distributed in two groups named CG (control group) and TG (tramadol group). General anesthesia was induced in all animals with isoflurane via mask. After 10 minutes, the animals of CG received 0.05ml/kg of saline solution at 0.9 percent, and TG received 2mg/kg of tramadol, both via intramuscular. It was evaluated heart rate, systolic, diastolic and mean arterial pressures; electrocardiography; respiratory rate; oxihemoglobin saturation; end tidal carbon dioxide; bispectral index and recovery of anesthesia. The administration of tramadol in dogs anesthetized with isoflurane did not produce changes in cardiorespiratory variables, bispectral index and anesthetic recovery time. In addition, this association promoted good quality of anesthetic recovery.
