RESUMO
BACKGROUND/OBJECTIVE: Data on IgG4-related disease (IgG4-RD) come almost exclusively from cohorts from Asia, Europe, and North America. We conducted this study to describe the clinical presentation, phenotype distribution, and association with sex, ethnicity, and serological markers in a large cohort of Latin American patients with IgG4-RD. METHODS: We performed a multicenter medical records review study including 184 Latin American IgG4-RD patients. We assigned patients to clinical phenotypes: group 1 (pancreato-hepato-biliary), group 2 (retroperitoneal/aortic), group 3 (head and neck-limited), group 4 (Mikulicz/systemic), and group 5 (undefined). We focused the analysis on how sex, ethnicity, and clinical phenotype may influence the clinical and serological presentation. RESULTS: The mean age was 50.8 ± 15 years. Men and women were equally affected (52.2% vs 48.8%). Fifty-four patients (29.3%) were assigned to group 1, 21 (11.4%) to group 2, 57 (30.9%) to group 3, 32 (17.4%) to group 4, and 20 (10.8%) to group 5. Male sex was associated with biliary tract (odds ratio [OR], 3.4; 95% confidence interval [CI], 1.36-8.26), kidney (OR, 3.4; 95% CI, 1.28-9.25), and retroperitoneal involvement (OR, 5.3; 95% CI, 1.45-20). Amerindian patients presented more frequently with atopy history and gallbladder involvement. Group 3 had a female predominance. CONCLUSIONS: Latin American patients with IgG4-RD were younger, and men and women were equally affected compared with White and Asian cohorts. They belonged more commonly to group 1 and group 3. Retroperitoneal and aortic involvement was infrequent. Clinical and serological features differed according to sex, ethnicity, and clinical phenotype.
Assuntos
Doença Relacionada a Imunoglobulina G4 , Adulto , Idoso , Etnicidade , Feminino , Humanos , Imunoglobulina G , América Latina , Masculino , Pessoa de Meia-Idade , FenótipoRESUMO
Gene mutations influencing melanocytes also impact on physiological and behavioural functions. In this study, we investigated their association with four different coat colours in the Pura Raza Español (PRE) horse using morphological traits and molecular datasets. Four different subpopulations were identified according to individual coat colour: grey, bay, chestnut and black. Coat colour significantly associated with morphological measurements. Observed and expected heterozygosity values were low in grey compared with the other three subpopulations, suggesting the presence of unique ancestral alleles probably arisen by genetic drift and selection mechanism effects. Nei's distance demonstrated a clear division among subpopulations, the grey being the most divergent group. Gene flow estimates were similar, showing the lowest values in grey. Divergence times among subpopulations assessed with the average square distance suggested that grey was the original PRE population which diverged from bay, chestnut and black. Our results also demonstrated a clear morphological differentiation according to coat colour. The close genetic structure of bay and chestnut PRE subpopulations and the clear differences in most morphological traits of grey and chestnut PRE mares would suggest the pleiotropic effect of genomic regions determining coat colour in horses. However, further analysis including genomic information would be necessary to elucidate the mechanisms involved.
Assuntos
Cor , DNA/genética , Variação Genética , Cor de Cabelo/genética , Cavalos/anatomia & histologia , Cavalos/genética , Alelos , Animais , Conjuntos de Dados como Assunto , Feminino , Fluxo Gênico/genética , Deriva Genética , Pleiotropia Genética/genética , Heterozigoto , Masculino , Repetições de Microssatélites/genética , Característica Quantitativa Herdável , Seleção Genética/genéticaRESUMO
Se presenta el caso de un paciente masculino de ocho años y ocho meses de edad con diagnóstico de sarcoma de Ewing en el fémur izquierdo en estadio IIA. Se le dió quimioterapia, y se le hizo resección en bloque y colocación de fijador externo tipo Ilizarov, con transportación ósea para llenar el defecto intercalar. A la fecha del informe (24 de mayo, 1990), se completó la transportación ósea planeada de 11 centímetros. Hay datos radiográficos de corticalización del callo óseo neoformado y clínicamente el paciente se encuentra en buenas condiciones generales, realiza marcha con muletas y presenta cierto grado de limitación de la mobilidad de la cadera y rodilla. No hay pruebas de metástasis pulmonares por TAC. Continúa recibiendo quimioterapia.