The ACTN3 R577X polymorphism affects the lipid profile and the prognosis of nutritional intervention in HIV-positive patients.

The hypothesis of the present study is that the polymorphisms in the APOC3, CEPT, ACE, and ACTN3 genes can affect the outcome of nutritional intervention and the plasma lipid profile of HIV+ patients. To test the hypothesis, genetic material was collected from buccal cells, and serum was collected for biochemical analysis. Sixty-five patients were analyzed. The incorporation of protease inhibitor (PI) was more frequent in women (77% vs 33% in men). Nutritional intervention improved anthropometric parameters independent of the genotype. Patients with the RR genotype for the ACTN3 R577X polymorphism had lower glycemia (RR = 95.4 ± 6.5 mg/dL, RX = 102.6 ± 10.6 mg/dL, XX = 110.1 ± 16.3 mg/dL; P = .03) and a greater reduction in low-density lipoproteins (LDL) after intervention (LDL: RR = -23.7 ± 15.8 mg/dL, RX = 1.32 ± 5.13 mg/dL, XX = 30.21 ± 24.4 mg/dL; P = .01). Patients using PI had a negative response to dietary intervention regarding the levels of high-density lipoprotein (-2.4 ± 1.70 with PI, 2.56 ± 1.60 mg/dL without PI; P = .02), very low density lipoprotein (0.84 ± 2.73 with IP, -5.46 ± 3.37 mg/dL without PI; P = .03), and triglycerides (1.79 ± 13.22 with PI, -34.00 ± 17.67 mg/dL without PI; P = .052). This response was also independent of the genotype (P > 0.05) and suggested the need for oral lipid-lowering drugs in all HIV+ patients using PI. Our results indicate that the ACTN3 R577X polymorphism is a good predictor of both the lipid profile and the prognosis of nutritional intervention in reducing LDL in HIV+ patients.

Deoti surgical flap and sphincteroplasty for treatment of severe perineal deformity / Retalho cirúrgico de Deoti mais esfincteroplastia para tratamento de deformidade perineal grave

ABSTRACT Purpose: Anal incontinence is a very stigmatizing condition, which affects biopsychosocially the patient. It is a neglected, but quite common complication of obstetric and anorectal surgery, however it has treatment options. None of the treatment options have exceptional efficacy rates and still associated with risk of recurrence. The surgery techniques known are: anterior and posterior shortening procedure; post-anal repair; anterior elevator plasty and external sphincter plication; total pelvic floor repair and sphincter repair. None of them use a flap rotation of adipose tissue. The purpose is to propose a new surgery technique of anal sphincteroplasty, which uses flap rotation, for severe perineal deformity associated with anal incontinence. Methods: Patient with severe perineal deformity and anal incontinence treated with a new surgery technique of sphincteroplasty with flap rotation. Results: The severe perineal deformity was corrected with both esthetic and functional results. Anal continence measured by Wexner and Jorge assessment in a follow-up period of 2 years after the intervention. Pictures and video show esthetic and functional aspects. Conclusion: This is the first time that a flap rotation is used to treat a severe perineal deformity. And the technique presented promising outcomes, which allows perineum reconstruction that is similar to the original anatomy. Therefore, this technique is justified to better evaluate its efficiency and the impact on patients' prognosis.

RESUMO Objetivo: A incontinência anal é uma condição muito estigmatizante, que afeta biopsicossocialmente o paciente. É uma complicação negligenciada, mas bastante comum da cirurgia obstétrica e anorretal, no entanto, tem opções de tratamento. Nenhuma das opções de tratamento tem taxas de eficácia excepcionais e ainda está associada ao risco de recorrência. As técnicas cirúrgicas conhecidas são: procedimento de encurtamento anterior e posterior; reparação pós-anal; plástica do elevador anterior e plicatura externa do esfíncter; reparo total do assoalho pélvico e reparo do esfíncter. Nenhum deles utiliza uma rotação de retalho de tecido adiposo. O objetivo é propor uma nova técnica cirúrgica de esfincteroplastia anal, que utiliza a rotação de retalho, para deformidade perineal grave associada à incontinência anal. Métodos: Paciente com deformidade perineal grave e incontinência anal tratada com nova técnica cirúrgica de esfincteroplastia com rotação de retalho. Resultados: A deformidade perineal grave foi corrigida com resultados estéticos e funcionais. Continência anal medida pela avaliação de Wexner & Jorge em um período de seguimento de 2 anos após a intervenção. Imagens e vídeo mostram aspectos estéticos e funcionais. Conclusão: Esta é a primeira vez que uma rotação de retalho é usada para tratar uma deformidade perineal grave. E a técnica apresentou resultados promissores, o que permite a reconstrução do períneo semelhante à anatomia original. Portanto, esta técnica é justificada para melhor avaliar sua eficiência e o impacto no prognóstico dos pacientes.

Altered glucose homeostasis and hepatic function in obese mice deficient for both kinin receptor genes.

The Kallikrein-Kinin System (KKS) has been implicated in several aspects of metabolism, including the regulation of glucose homeostasis and adiposity. Kinins and des-Arg-kinins are the major effectors of this system and promote their effects by binding to two different receptors, the kinin B2 and B1 receptors, respectively. To understand the influence of the KKS on the pathophysiology of obesity and type 2 diabetes (T2DM), we generated an animal model deficient for both kinin receptor genes and leptin (obB1B2KO). Six-month-old obB1B2KO mice showed increased blood glucose levels. Isolated islets of the transgenic animals were more responsive to glucose stimulation releasing greater amounts of insulin, mainly in 3-month-old mice, which was corroborated by elevated serum C-peptide concentrations. Furthermore, they presented hepatomegaly, pronounced steatosis, and increased levels of circulating transaminases. This mouse also demonstrated exacerbated gluconeogenesis during the pyruvate challenge test. The hepatic abnormalities were accompanied by changes in the gene expression of factors linked to glucose and lipid metabolisms in the liver. Thus, we conclude that kinin receptors are important for modulation of insulin secretion and for the preservation of normal glucose levels and hepatic functions in obese mice, suggesting a protective role of the KKS regarding complications associated with obesity and T2DM.