Abstract Introduction Childhood trauma has been suggested to be involved in susceptibility to bipolar disorder (BP). However, it remains unclear whether the occurrence of childhood trauma is differently distributed in subthreshold bipolar disorder (SBP). Objective To assess childhood trauma in young adults with SBP, as compared to young adults with BP and population controls (PC). Method This was a cross-sectional, population-based study. The Mini International Neuropsychiatric Interview (MINI) was used to define the groups with BP (subjects with a lifetime or current manic episode or lifetime or current hypomania with a history of a depressive episode), SBP (subjects with a history of hypomanic episode without lifetime or current depressive episode), and subjects without mood disorders (PC). Childhood trauma was assessed using de Childhood Trauma Questionnaire (CTQ). We investigated differences regarding childhood trauma across the three groups (BP, SBP and PC). Result Except for sexual abuse, all subtypes of childhood trauma remained associated with the BP group as compared to PC. Additionally, when we compared SBP and BP, significant differences were found only for emotional abuse. No significant differences were found in relation to childhood trauma between the SBP and PC groups after adjusting for confounding factors. Conclusion These findings suggest that investigating childhood trauma, with a particular focus on emotional abuse, could be considered a preventive measure and potentially improve the prognosis.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
OBJECTIVE: To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. METHODS: Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration. RESULTS: The major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of cardiac valve lesions; 5) there was no statistically significant difference between the mean distances obtained on the 6-minute walk test; 6) there was splenic enlargement; 7) there was an increase in gamma-glutamyltransferase levels; 8) the urinary concentration of glycosaminoglycans remained unchanged. CONCLUSIONS: In general, echocardiographic findings were the only variable with deterioration and possible immediate clinical consequences. Although a 12-month period is too short to detect changes in most variables related to mucopolysaccharidosis II, its progressive nature should be taken into account when evaluating the efficiency of treatment protocols.
OBJETIVO: Avaliar a progressão da mucopolissacaridose II, durante um período de 12 meses, em 11 pacientes brasileiros. MÉTODOS: Onze pacientes brasileiros com mucopolissacaridose II foram avaliados prospectivamente no Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre. As avaliações realizadas na visita inicial e na de 12 meses foram: anamnese, exame físico, ressonância nuclear magnética abdominal, ecocardiograma, teste da caminhada em 6 minutos, audiometria, exames bioquímicos séricos e dosagem uriná- ria de glicosaminoglicanos. RESULTADOS: Os principais achados relativos à comparação entre as duas visitas foram: 1) dois pacientes apresentaram retardo de crescimento; 2) dois pacientes apresentaram variação negativa em relação ao peso; 3) um paciente apresentou variação de obesidade para sobrepeso; 4) três pacientes desenvolveram alargamento do ventrículo esquerdo; destes, dois aumentaram o número de lesões nas valvas cardíacas; 5) não foi encontrada diferença estatística significativa entre a média das distâncias percorridas no teste da caminhada em 6 minutos; 6) houve aumento do volume esplênico; 7) ocorreu aumento dos níveis de gamaglutamiltransferase; 8) não houve alteração dos níveis urinários de glicosaminoglicanos. CONCLUSÕES: De uma maneira geral, a única variável que apresentou, no período estudado, piora com potencial repercussão clínica imediata foram os achados ecocardiográficos. Embora o período de 12 meses seja curto para medir alterações na maioria dos parâmetros comprometidos na mucopolissacaridose II, sua natureza progressiva deve ser levada em conta na avaliação da eficácia dos protocolos de tratamento para essa condição.