Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

INTRODUCTION: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanism. N-acetylcysteine protects renal function in patients with kidney injuries associated with increased oxidative stress and improves viability of AAAS-knockdown adrenal cells in vitro. PATIENT AND RESULTS: A boy diagnosed with AAAS presented with short stature and increased oxidative stress in vivo assessed by increased thiobarbituric acid reactive substances (TBARS), which are markers of lipid peroxidation, and by the susceptibility of LDL to oxidation and the capacity of HDL to prevent it. A homozygous missense germline mutation (c.523G>T, p.Val175Phe) in AAAS was identified. N-acetylcysteine (600 mg orally, twice daily) decreased oxidative stress but did not change the patient's growth pattern. CONCLUSIONS: An increase in oxidative stress is reported for the first time in vivo in an AAAS patient. N-acetylcysteine was capable of decreasing TBARS levels, reducing the susceptibility of LDL to oxidation and improving the antioxidant role of HDL. The long-term effect of antioxidant treatment should be evaluated to determine the real benefit for the prevention of the degenerative process in AAAS.

[Stroke in a neurology ward: etiologies, complications and length of stay]. / Acidente vascular cerebral isquêmico em uma enfermaria de neurologia: complicações e tempo de internação.

INTRODUCTION: Purposes of this study were: evaluate complications and length of stay of patients admitted with diagnosis of ischemic stroke (IS) in the acute or subacute phase, in a general Neurology ward in São paulo, Brazil; investigate the influence of age, risk factors for vascular disease, arterial territory and etiology. METHODS: Data from 191 IS patients were collected prospectively. RESULTS: Fifty-one patients (26.7%) presented at least one clinical complication during stay. pneumonia was the most frequent complication. Mean length of stay was 16.8+-13.8 days. Multivariate analysis revealed a correlation between younger age and lower complication rates (OR=0.92-0.97, p < 0.001). presence of complications was the only factor that independently influenced length of stay (OR=4.20; CI=1.928.84; p<0.0001). CONCLUSION: These results should be considered in the planning and organization of IS care in Brazil.