Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

The association of RASopathies [Noonan syndrome (NS) and Noonan-related syndromes] and autoimmune disorders has been reported sporadically. However, a concomitant evaluation of autoimmune diseases and an assessment of multiple autoantibodies in a large population of patients with molecularly confirmed RASopathy have not been performed. The clinical and laboratory features were analyzed in 42 RASopathy patients, the majority of whom had NS and five individuals had Noonan-related disorders. The following autoantibodies were measured: Anti-nuclear antibodies, anti-double stranded DNA, anti-SS-A/Ro, anti-SS-B/La, anti-Sm, anti-RNP, anti-Scl-70, anti-Jo-1, anti-ribosomal P, IgG and IgM anticardiolipin (aCL), thyroid, anti-smooth muscle, anti-endomysial (AE), anti-liver cytosolic protein type 1 (LC1), anti-parietal cell (APC), anti-mitochondrial (AM) antibodies, anti-liver-kidney microsome type 1 antibodies (LKM-1), and lupus anticoagulant. Six patients (14%) fulfilled the clinical criteria for autoimmune diseases [systemic lupus erythematous, polyendocrinopathy (autoimmune thyroiditis and celiac disease), primary antiphospholipid syndrome (PAPS), autoimmune hepatitis, vitiligo, and autoimmune thyroiditis]. Autoimmune antibodies were observed in 52% of the patients. Remarkably, three (7%) of the patients had specific gastrointestinal and liver autoantibodies without clinical findings. Autoimmune diseases and autoantibodies were frequently present in patients with RASopathies. Until a final conclusion of the real incidence of autoimmunity in Rasopathy is drawn, the physicians should be alerted to the possibility of this association and the need for a fast diagnosis, proper referral to a specialist and ultimately, adequate treatment. (c) 2012 Wiley Periodicals, Inc.

K-41(n, gamma)K-42 thermal and resonance integral cross section measurements

We measured the K-41 thermal neutron absorption and resonance integral cross sections after the irradiation of KNO3 samples near the core of the IEA-R1 IPEN pool-type research reactor. Bare and cadmium-covered targets were irradiated in pairs with Au-Al alloy flux-monitors. The residual activities were measured by gamma-ray spectroscopy with a HPGe detector, with special care to avoid the K-42 decay beta(-) emission effects on the spectra. The gamma-ray self-absorption was corrected with the help of MCNP simulations. We applied the Westcott formalism in the average neutron flux determination and calculated the depression coefficients for thermal and epithermal neutrons due to the sample thickness with analytical approximations. We obtained 1.57(4) and 1.02(4) b, for thermal and resonance integral cross sections, respectively, with correlation coefficient equal to 0.39.

O efeito do status de sobrevivência sobre gastos com internações hospitalares públicas no Brasil em uma perspectiva temporal

As projeções de gastos com saúde apontam para um crescimento considerável das despesas em decorrência do envelhecimento populacional. No entanto, estudos mostram que os gastos se concentram no fim da vida e, dessa forma, projeções que não levam em conta variáveis de proximidade à morte tendem a superestimar as projeções. O objetivo deste trabalho é analisar a magnitude dos gastos com internações públicas no Brasil por status de sobrevivência, e identificar se existe uma relação entre despesas com internações para indivíduos próximos à morte e idade à morte. O banco de dados empregado é oriundo do Sistema de Informações Hospitalares do DATASUS - SIH/DATASUS - para o período de 1995 a 2007 no Brasil. Foi analisada a evolução dos gastos totais e a tendência dos gastos por grupo etário para aqueles pacientes que tiveram como motivo de saída do hospital a alta (sobreviventes) ou o óbito (pacientes terminais). A fim de analisar o efeito do status de sobrevivência sobre os gastos com internações no futuro, simulamos projeções de gastos em 2050, desagregados entre gastos de sobreviventes e gastos relacionados à morte. Os resultados mostram que o padrão de gastos por status de sobrevivência no Brasil é crescente por grupo etário para o grupo de sobreviventes, e decrescente para os indivíduos que faleceram. Também se verificou que a razão de gastos mortos/sobreviventes diminui com a idade. A simulação da projeção de gastos com internações para 2050 mostra que quando se considera apenas o perfil etário dos gastos médios em 2007, há um crescimento de mais de 380% nos gastos com internações em 2050 quando comparado a 2007, mas quando os gastos são projetados segundo o status de sobrevivência, o crescimento não passa de 70%. Projeção retrospectiva para 2007 mostra que o efeito do envelhecimento é menor quando o efeito da proximidade à morte é levado em consideração. Os resultados parecem indicar que os gastos hospitalares serão afetados mais por um aumento no número absoluto de idosos do que por um aumento da longevidade.

Doppler-guided hemorrhoidal artery ligation with rectal mucopexy technique: initial evaluation of 42 cases

The treatment of hemorrhoidal disease (HD) by conventional hemorrhoidectomy is associated with significant morbidity, mainly represented by the postoperative pain and the late return to daily activities. Doppler-guided hemorrhoid artery ligation (DGHAL) is a minimal-invasive surgical treatment for HD that has been used as an alternative method in order to reduce these inconveniences. OBJECTIVE: To analyze the initial results of the DGHAL technique associated with rectal mucopexy in the treatment of HD. METHODS:Forty-two patients with stage I, III and IV hemorrhoids who were submitted to DGHAL were analyzed from December 2010 to August 2011. Eleven patients (26%) were stage II; 21 (50%), stage III; and 10 (24%), stage IV HD. All patients were operated by the same surgeon under spinal anesthesia and using the same equipment and technique to perform the procedure. The 42 patients underwent ligation of six arterial branches followed by rectal mucopexia by uninterrupted suture. Nine patients needed concomitant removal of perianal skin tag. In the postoperative, the following parameters were evaluated: pain, tenesmus, bleeding, itching, prolapse, mucus discharge and recurrence. The mean postoperative follow-up lasted four months (one to nine months). RESULTS: Tenesmus was the most common postoperative complaint for 85.7% of patients followed by pain, in 28.6%, perianal burning, in 12.3%, mucus discharge and perianal hematoma in 4.7%. Two patients had severe postoperative bleeding and required surgical haemostasis, one of which needed blood transfusion. Ninety-five percent of the patients declared to be satisfied with the method. CONCLUSION: Even though DGHAL has complications similar to those of other surgical methods, its results present less postoperative pain, allowing faster recovery and return to work. Studies with more cases and a longer follow-up are still necessary to assess the late recurrence.

Differential effects of undernourishment on the differentiation and maturation of rat enteric neurons

The colocalization, number, and size of various classes of enteric neurons immunoreactive (IR) for the purinergic P2X2 and P2X7 receptors (P2X2R, P2X7R) were analyzed in the myenteric and submucosal plexuses of control, undernourished, and re-fed rats. Pregnant rats were exposed to undernourishment (protein-deprivation) or fed a control diet, and their offspring comprised the following experimental groups: rats exposed to a normal diet throughout gestation until postnatal day (P)42, rats protein-deprived throughout gestation and until P42, and rats protein-deprived throughout gestation until P21 and then given a normal diet until P42. Immunohistochemistry was performed on the myenteric and submucosal plexuses to evaluate immunoreactivity for P2X2R, P2X7R, nitric oxide synthase (NOS), choline acetyltransferase (ChAT), calbindin, and calretinin. Double-immunohistochemistry of the myenteric and submucosal plexuses demonstrated that 100% of NOS-IR, calbindin-IR, calretinin-IR, and ChAT-IR neurons in all groups also expressed P2X2R and P2X7R. Neuronal density increased in the myenteric and submucosal plexuses of undernourished rats compared with controls. The average size (profile area) of some types of neurons in the myenteric and submucosal plexuses was smaller in the undernourished than in the control animals. These changes appeared to be reversible, as animals initially undernourished but then fed a normal diet at P21 (re-feeding) were similar to controls. Thus, P2X2R and P2X7R are present in NOS-positive inhibitory neurons, calbindin- and calretinin-positive intrinsic primary afferent neurons, cholinergic secretomotor neurons, and vasomotor neurons in rats. Alterations in these neurons during undernourishment are reversible following re-feeding