Perthes-Like Disease Masquerading Non-Classical MPS

Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.

Membrane-active properties of alpha-MSH analogs: aggregation and fusion of liposomes triggered by surface-conjugated peptides.

Reaction of the melanotropin hormone analogs [Nle(4),D-Phe(7)]-alpha-MSH and [Nle(4),D-Phe(7)]-alpha-MSH(4-10), which were extended at their N-terminus by a thiol-functionalized spacer arm, with preformed liposomes containing thiol-reactive (phospho)lipid derivatives resulted in the aggregation of the vesicles and in a partial leakage of their inner contents. This aggregation/leakage effect, which was only observed when the peptides were covalently conjugated to the surface of the liposomes, was correlated with the fusion of the vesicles as demonstrated by the observed decrease in resonance energy transfer between probes in a membrane lipid mixing assay. A limited fusion was confirmed by monitoring the mixing of the liposome inner contents (formation of 1-aminonaphthalene-3,6,8-trisulfonic acid/p-xylene bis(pyridinium bromide) complex). The membrane-active properties of the peptides could be correlated with changes in the fluorescence emission spectra of their tryptophan residue, which suggested that after their covalent binding to the outer surface of the liposomes they can partition within the core of the bilayers. A blue shift of 10 nm was observed for [Nle(4),D-Phe(7)]-alpha-MSH which was correlated with an increase in fluorescence anisotropy and with changes in the accessibility of the coupled peptide as assessed by the quenching of fluorescence of its tryptophan residue by iodide (Stern-Volmer plots). These results should be related to the previously described capacity of alpha-MSH, and analogs, to interact with membranes and with the favored conformation of these peptides which, via a beta-turn, segregate their central hydrophobic residues into a domain that could insert into membranes and, as shown here, trigger their destabilization.

Intervenção educativa em unidade básica de saúde: trabalhando com pacientes hipertensos e familiares

Hipertensão arterial, entidade clínica multifatorial, é conceituada como síndrome caracterizada pela presença de níveis tensionais elevados, associados a alterações metabólicas e hormonais e a fenômenos tróficos (hipertrofias cardíaca e vascular). Portanto, trata-se de plano de ação por meio de uma ação educativa que tem como objetivo melhorar o controle da hipertensão arterial pelos pacientes e o envolvimento dos familiares. A intervenção será realizada na Unidade Básica de Saúde Iraci Lula Mendes, município de Espinosa, Minas Gerais. Para fundamentação do tema buscou-se informações em bancos de dados utilizando-se os Descritores em Ciências da Saúde (DeCS)/BVS: Hipertensão; Hipertensão Arterial; Atenção Primária à Saúde; Atenção Básica; Estratégia Saúde da Família; e Promoção da Saúde. Além de consultas em outras fontes como Sociedade Brasileira de Hipertensão, VI Diretrizes Brasileiras de Hipertensão e Ministério da Saúde. A operacionalização da intervenção passará por dois momentos. Primeiro momento, aplicação de um questionário mediante assinatura de termo de consentimento, aos 450 hipertensos cadastrados na UBS que atenderam aos critérios de inclusão para participarem das atividades e, segundo momento, realização de grupos operativos direcionados aos pacientes e capacitação dos familiares. Os grupos serão conduzidos por meio de técnicas participativas, interativas e acolhedoras, e terão como objetivo estimular o controle da hipertensão pelos pacientes por meio do autocuidado