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BackgroundSub-optimal levels of vitamin D have been found to be highly prevalent in all age groups, with epidemiologic studies demonstrating a link between vitamin D deficiency and disease susceptibility, such as infection and cancer, and mortality rates. In adult transplant patients, it has been suggested that the immunomodulatory properties of vitamin D may have an important role in the prevention and treatment of graft-versus-host disease.ObjectiveThe objective of this study was to assess serum 25-hydroxyvitamin D levels of children and adolescents submitted to allogeneic hematopoietic stem cell transplantation. Methods: Serum 25-hydroxyvitamin D levels of 66 patients, aged 4-20 years, were assessed at three stages: before hospitalization for hematopoietic stem cell transplantation and at 30 and 180 days after hematopoietic stem cell transplantation. The control group consisted of 25 healthy children.ResultsAt the pre-hematopoietic stem cell transplantation stage, patients had lower levels of 25-hydroxyvitamin D compared to controls (25.7 ± 12.3 ng/mL vs. 31.9 ± 9.9 ng/mL; p-value = 0.01), and a higher prevalence of 25-hydroxyvitamin D deficiency (32% vs. 8%; p-value = 0.01). Prevalence increased significantly after hematopoietic stem cell transplantation (p-value = 0.01) with half of the patients having vitamin D deficiency at 180 days after transplantation. At this stage, mean serum 25-hydroxyvitamin D levels were 20.9 ± 10.9 ng/mL, a significant decline in relation to baseline (p-value = 0.01). No correlation was found between 25-hydroxyvitamin D levels and vitamin D intake, graft-versus-host disease, corticoid use or survival rates.ConclusionLow levels of 25-hydroxyvitamin D were detected even before hematopoietic stem cell transplantation and were significantly lower at 180 days after hematopoietic stem cell transplantation, thus recommending vitamin D supplementation for children and adolescents submitted to hematopoietic stem cell transplantation.

Objective: Hypoparathyroidism is characterized by parathyroid hormone deficiency and hypocalcemia. It has been demonstrated that these patients may also present psychiatric symptoms and decrease of quality of life. The aims of this study were to evaluate the presence of psychopathological symptoms in a cohort of patients with hypoparathyroidism and compare to a control group. Subjects and methods: Patients were submitted to a cross-sectional Symptom Checklist-90-R (SCL-90-R) questionnaire that evaluates psychopathological symptoms by means of the Global Severity Index (GSI), Positive Symptoms Total (PST) and Positive Symptom Distress Index (PSDI). A score based in the positive symptoms was calculated (T-score). The test group was composed of patients with hypoparathyroidism, and control by thyroidectomized patients without hypoparathyroidism. A correlation between the presence of psychological symptoms and clinical features was analyzed. Results: The study included 57 patients with a mean age of 51.1 ± 16.4 years; 20 as a control and 37, test group. There were no differences between groups regarding gender, mean age and age at diagnose. Hypoparathyroidism patients presented higher GSI index than the control group (p = 0.038). Mean T-score of the test group was as elevated as 58.2 ± 5.3 (reference range < 55). No correlation of the number of psychological symptoms to clinical and laboratorial parameters was observed. Conclusion: Patients with hypoparathyroidism attending our outpatient clinics presented an increase in the number of self-report of psychological symptoms when compared with a control group. However, no correlation with hypocalcemia and clinical parameters was observed. Future studies are necessary to evaluated if the absence of PTH play a role on it.

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Arq Bras Endocrinol Metab vol 49 nº 4 Agosto 2005 604 RESUMOA rabdomiólise tem sido motivo de publicação na literatura médica há mais de 50 anos. Nas últimas décadas, com o advento das estatinas, usadas na prevenção primária e secundária da doença cardiovascular, este assunto volta como importante complicação, muitas vezes fatal, do uso desta classe de drogas. A rabdomiólise associada ao uso das estatinas ocorre principalmente devido a associações medicamentosas. A seguir, descreveremos um caso de uma paciente em uso de altas doses de Sinvastatina, devido à doença aterosclerótica difusa, que desenvolveu quadro compatível com rabdomiólise resultando em óbito. (1) descreveram os quatro primeiros casos de vítimas que, depois de expostas a bombardeios, desenvolveram insuficiência renal aguda (IRA) resultando em óbito no decurso de uma semana. Durante a necrópsia foram encontrados, nos túbulos renais, cilindros pigmentados que, na época, não puderam ser explicados, apesar de atualmente estar claro que estavam relacionados a lesão muscular maciça. Este quadro foi mais tarde denominado rabdomiólise. Três décadas depois, novos casos de rabdomiólise foram descritos, expandindo o conhecimento sobre a etiologia do dano muscular (2).As estatinas são drogas usadas no tratamento das dislipidemias, com estudos comprovando sua ação na redução da mortalidade por doença cardiovascular (DCV). Seus benefícios são independentes de sexo ou idade, sendo usados tanto na prevenção primária quanto na secundária de DCV (3).Em 2001, o National Cholesterol Education Program (NCEP), Adult Treatment Panel III (7) divulgou novas diretrizes para o tratamento do LDL colesterol, diminuindo o seu valor-alvo, aumentando assim o número de usuários de estatina (4-10).

Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. The medecial investigation confirmed that D313Y is an alpha-galactosidase A sequence variant that causes pseudo deficient enzyme activity in plasma but not Fabry disease. Thus, clinical symptoms that prompted Fabry disease investigation could not be attributable to Fabry disease and therefore enzyme replacement therapy was not indicated.

Objective: To analyze the concordance and agreement between bioimpedance spectroscopy (BIS) and anthropometry for the diagnosis of protein energy wasting (PEW) in chronic peritoneal dialysis patients.Methods: Prospective, multi-center, observational study using multifrequency bioimpedance device (Body Composition Monitor -BCM®- Fresenius Medical Care) and anthropometry for the diagnosis of PEW as recommended by the International Society of Renal Nutrition and Metabolism (ISRNM). Cohen's kappa was the main test used to analyze concordance and a Bland-Altmann curve was built to evaluate the agreement between both methods.Results: We included 137 patients from three PD clinics. The mean age of the study population was 57.7 ± 14.9, 47.8% had diabetes, and 52.2% were male. We calculated the scores for PEW diagnosis at 3 and 6 months after the first collection (T3 and T6) and on average 40% of the study population were diagnosed with PEW. The concordance in the diagnosis of PEW was only moderate between anthropometry and BIS at both T3 and T6. The main factor responsible for our results was a low to moderate correlation for muscle mass in kilograms, with an r-squared (R2) of 0.35. The agreement was poor, with a difference of more than 10 kg of muscle mass on average and with more than a quarter of all cases beyond the limits of agreements.Conclusion: Current diagnosis of PEW may differ depending on the tools used to measure muscle mass in peritoneal dialysis patients.

Background and Aims COVID-19 is a pandemic with no end in sight. There is only one approved antiviral agent but global stocks are deemed insufficient. Despite in vitro antiviral activity, clinical trials of chloroquine and hydroxychloroquine were disappointing, and they may even impair outcomes. Chloroquine causes zebroid deposits reminiscent of Fabry disease (α-galactosidase A deficiency) and endothelial cells are key targets of COVID-19. The study aims to investigate in vitro the effect of enzyme replacement therapy (ERT) in chloroquine-induced endothelial dysfunction. Method We have explored the effect of chloroquine on cultured endothelial cells and its modulation by recombinant α-galactosidase A (agalsidase-β). Following dose-response studies, 0.5 μg/mL chloroquine was added to cultured human endothelial cells. Neutral red and Lysotracker were used to assess lysosomes. Cytotoxicity was evaluated by the 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide) - MTT assay and cell stress by assessing reactive oxygen species (ROS) and nitric oxide (NO). In endothelial cells, chloroquine induced dose-dependent cytotoxicity at in vitro test concentrations for COVID-19 therapy. Results Chloroquine significantly induced the accumulation of acid organelles (P&lt;0.05), increased ROS levels, and decreased NO production (P&lt;0.05), in vitro. These adverse effects of chloroquine on endothelial cell biology were decreased by agalsidase-β (P&lt;0.05). Conclusion Chloroquine-induced endothelial cell cytotoxicity and stress is attenuated by agalsidase-β treatment. This suggests that endothelial cell injury may contribute to the failure of chloroquine as therapy for COVID-19 and may be at least in part related to causing dysfunction of the lysosomal enzyme α-galactosidase A.