Distribuição Espacial de Mortalidade por Insuficiência Cardíaca no Brasil, 1996-2017

BackgroundHeart failure (HF) is a leading cause of mortality and morbidity worldwide, and is associated with the high use of resources and healthcare costs. In Brazil, the HF prevalence is around 2 million patients, and its incidence is of approximately 240,000 new cases per year.ObjectiveThe present investigation aimed to analyze the spatiotemporal trend of mortality caused by HF in Brazil, from 1996 to 2017.MethodsThis is an ecological study developed with secondary data on HF mortality in Brazil. During the period, 1,242,014 cases of death caused by heart failure were analyzed. The existence of spatial autocorrelation of cases was calculated using the Global Moran Index (GMI) and, when significant, the Local Moran Index, considering p<0.05. The relative risk of the clusters was calculated.ResultsThe mortality rate due to HF was diversified in all Brazilian regions, with an emphasis in the South, Southeast, and Northeast. The GMI indicated positive spatial autocorrelation (p=0.01) in all periods. Municipalities located in the South, Southeast, Northeast, and Midwest showed a higher Relative Risk for mortality from HF, and most municipalities in the North were classified as a protective factor against this cause of death.ConclusionsThe study showed a decline in mortality rates across the national territory. The highest concentration of mortality rates is in the North and Northeast regions, highlighting priority vulnerable areas in the planning and controlling strategies of health services.     

Velocardiofacial syndrome with a rare t(2;22)

Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in some specific regions in these chromosomes. Patients with DiGeorge and Velocardiofacial syndromes have a deletion on 22q11 leading to haploinsufficiency for one or more gene(s). We report a patient with velocardiofacial syndrome in which cytogenetic and fluorescence in situ hybridization analysis showed a rare t(2;22) and deletion in the 22q11 region.     

Agreement among insulin sensitivity indexes on the diagnosis of insulin resistance in polycystic ovary syndrome and ovulatory women

OBJECTIVE: The objective was to compare agreement on the diagnosis of insulin resistance (IR) among insulin sensitivity indexes in both ovulatory women and those with polycystic ovary syndrome (PCOS). STUDY DESIGN: In an observational study, the 75-g oral glucose tolerance test was performed in 105 women with PCOS and 51 ovulatory women. The insulin sensitivity indexes used were insulin quantitative sensitivity check index (QUICKI), 1/homeostasis model assessment-insulin resistance (1/HOMA-IR), area under curve for insulin (AUC-I), and the Matsuda insulin sensitivity index (COMP). For the IR diagnosis we used cut-off values described in recent publications (insulin >12 microIU/ml, 1/HOMA-IR <0.47, QUICKI < or =0.333, AUC-I > or =7000 microIU/ml 120 min, and COMP <4.75. RESULTS: Excellent agreement was assessed among insulin, QUICKI, and 1/HOMA-IR. However, the rate of IR detected by these indexes in the PCOS group (44.8-51.4%) was lower than expected. New cut-offs were then determined based on COMP results. Using these values, 1/HOMA-IR and QUICKI showed excellent agreement (kappa=0.83) with COMP. CONCLUSION: The observed agreements among insulin, QUICKI and 1/HOMA-IR were higher than 93%. Therefore, clinicians may choose any of those obtaining similar results. For clinicians who prefer COMP, but are looking for a simpler test to detect IR in PCOS women, the use of QUICKI and 1/HOMA-IR with the new cut-offs seems reasonable.     

Extended administration of the association of zidovudine plus ritonavir during rat pregnancy: maternal and fetal effects

The purpose of the study was to evaluate at term, the effects of the association of zidovudine/ritonavir administered during the entire period of rat pregnancy. Forty pregnant EPM-1 Wistar rats were divided randomly into four groups: one control (drug vehicle control, n=10) and three experimental treated with an oral solution of zidovudine/ritonavir (Exp 1 = 10/20 mg/kg bw, n = 10; Exp 2 = 30/60 mg/kg bw, n=10; Exp 3 = 90/180 mg/kg bw, n=10) from day 0 up to day 20 of pregnancy. Maternal body weights were recorded at the start of the experiment and at the 7th, 14th and the 20th day thereafter. At term (20th day) the rats were anesthetized and, upon laparotomy and hysterotomy, the number of implantations, resorptions, living fetuses, placentae and intrauterine deaths were recorded. The collected fetuses and placentae were weighed, and the concepts were examined under a stereoscopic microscope for external malformations. The maternal body gain and the mean fetal weight at term were both significantly lower (p < 0.01 and p < 0.0001, respectively) in the experimental groups compared to the control. The recorded resorptions were higher in Exp 2 and Exp 3 groups than in the control group. The other parameters were not affected. The exposure of pregnant rats at term to a 1:2 association of zidovudine plus ritonavir resulted in a significant reduction in maternal body weight gain and increased rate of fetal resorption.     

Absence of circadian salivary cortisol rhythm in women with anorexia nervosa

STUDY OBJECTIVE: To compare the cortisol levels and 24 hour salivary cortisol rhythm in patients with anorexia nervosa (AN) and normal controls. DESIGN: Prospective transversal controlled study. SETTING: Tertiary-referral University Hospital. PARTICIPANTS: Twenty-five patients aged 15 to 35 years, 13 of them with regular ovulatory cycles, and 12 with diagnosis of AN. INTERVENTIONS: Salivary and blood collection for cortisol 24-hour rhythm determination. MAIN OUTCOME: Salivary cortisol was determined at 9 am, 5 pm, and 11 pm. Seric follicle-stimulating hormone, luteinizing hormone (LH), prolactin, estradiol (E2), progesterone, dehydroepiandrosterone-S (DHEA-S), and cortisol were sampled together with the 9 am salivary sample. RESULTS: LH, E2, and DHEA-S levels were reduced in patients with AN. A correlation between salivary and serum cortisol levels was observed in the 9 am sample only in controls (r = 0.67, P = 0.01; AN: r = 0.48, P = 0.12). Cortisol rhythm was present in all control subjects, whereas it was absent in one third of AN patients. The area under the curve for the AN group with preserved rhythm was significantly higher than for the control group (Me = 6811 ng/dl/24h vs 3708 ng/dl/24 h; P = 0.034). CONCLUSION: Patients with AN have higher salivary cortisol levels when compared to normal women and some of them do not present circadian rhythm.     

Case Report of Small Cell Carcinoma of the Ovary,Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment.