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.
Among the most common clinical manifestations of haemophilia are joint haemorrhages. This study aimed to verify whether repetitive ankle haemarthrosis is associated with instability of the rear foot. We evaluated haemophilic patients with repetitive bleeding in the ankles, 39 of type A and four of type B, whose mean age was 16.1 years. All presented a functional gait, without the need for motion assistance devices. The number of rear-foot and ankle haemarthrosis episodes during the 6 months prior to the study was verified from the medical records of each patient. After verifying the alignment of the rear foot of the patients, we evaluated the subjects through computerized pedobarography with the f-scan system, emphasizing the study of the trajectory of the centre of pressure (COP) with each step taken. All patients received functional orthoses according to the results of these examinations, and were re-evaluated 1 week and 6 months after being fitted. The number of haemarthrosis episodes at the rear foot and the ankle was compared with the occurrence of joint bleeding within the previous 6 months. In the first examination, the COP trajectory showed that all the 43 patients studied had some sort of instability. Six months later, a significant reduction in the frequency of spontaneous bleeding events (P<0.001) concerning the rear foot and the ankle was observed. This method of evaluation was useful to identify joint instabilities, allowing the best prescription of orthoses to improve stability in the rear foot and the ankle.
O presente trabalho refere-se à elaboração de um Manual de Orientação Sexual para pacientes portadores de lesão medular, realizado por uma Enfermeira, integrante da Equipe de Reabilitação, da Divisão de Medicina de Reabilitação do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (D.M.R.H.C.F.M.U.S.P.). Tem como finalidade principal levar esses pacientes ao conhecimento da sexualidade e também orientações para exercê-la. Além disso, constitui-se em recurso para utilização durante as Consultas de Enfermagem ou nos grupos de Educação à Saúde, qualificando, assim, a assistência prestada.
Diagnostic was suspected on hypotonia with poor suck in the neonatal period in the first case, hypotonia with history of feeding difficulty and psychomotor developmental delay in the second case and hyperphagia with obesity in the third case.Physical exam showed facial dysmorphy in 1 case, bilateral cryptorchidism in the 3 cases and obesity (BMI = 34.3) in the third case.Chromosome analysis with fluorescence in situ hybridization (FISH) confirmed the diagnosis with identification of the deletion 15q11.2 -q13 in the three cases.The average retreat was 2 years; the evolution was marked by morbid obesity (BMI=57) with hypertension and psychiatric disturbance with hyperactivity in the third case and significant weight gain at the age of 10 months in the second case. Conclusion Prader Willi must be suspected in all newborns with unexplained persistent hypotonia and confirmed by chromosome analysis. Early diagnosis is important to effective long-term management.
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