Hyperreninemic hypoaldosteronism due to aldosterone synthase (AS) deficiency is a rare condition typically presenting as salt-wasting syndrome in the neonatal period. A one-month-old Portuguese boy born to non-consanguineous parents was examined for feeding difficulties and poor weight gain. A laboratory workup revealed severe hyponatremia, hyperkaliaemia and high plasma renin with unappropriated normal plasma aldosterone levels, raising the suspicion of AS deficiency. Genetic analysis showed double homozygous of two different mutations in the CYP11B2 gene: p.Glu198Asp in exon 3 and p.Val386Ala in exon 7. The patient maintains regular follow-up visits in endocrinology clinics and has demonstrated a favourable clinical and laboratory response to mineralocorticoid therapy. To our knowledge, this is the first Portuguese case of AS deficiency reported with confirmed genetic analysis.

BackgroundIn recent years, obesity has become one of the most important public health problems in the world, with a growing prevalence in both developed and developing countries. Recent studies show that sleep disturbances, especially obstructive sleep apnoea (OSA) may be a manifestation of metabolic syndrome (MetS). Although the association of OSA with the MetS is largely attributed to obesity, the exact pathophysiological mechanisms and their individual characteristics still need to be identified. This study investigated the prevalence and severity of syndrome Z in obese women with MetS on waiting list for bariatric surgery.MethodsIn this double-center cross-sectional study, female patients aged ≥18 years, stage III severe obesity with MetS, on waiting list for bariatric surgery were recruited. The diagnosis for MetS was made according to the criteria of the national cholesterol education program, adult treatment panel III. Clinical, anthropometric, demographic, biochemistry, and sleep measurements were collected. Correlations between continuous variables with sleep parameters were performed using the Pearson correlation test or Spearman correlation test.ResultsThe mean age of 83 patients was 44.8 ± 11.2 years and mean BMI was 42.6 ± 8.1 kg/m2. There was a significant correlation between OSA and metabolic score (r = 0.336; P = 0.002), neck circumference (r = 0.218; P = 0.048), basal systolic blood pressure (r = 0.280; P = 0.01), total cholesterol (r = 0.277; P = 0.011) and abdomen circumference (r = 0.284; P = 0.009). The mean values of excessive daytime sleepiness were 10.5 ± 7 demonstrating a value considered normal for its presence. However, a high risk for OSA was observed in practically the entire population. It was observed that the prevalence of Syndrome Z (75.9%) increased significantly according to apnoea hypopnoea index (AHI) (P for trend <0.0000). A prevalence of 27.71% for mild OSA, 20.48% for moderate OSA, and 27.71% for severe OSA was observed. An association of AHI severity with all components of MetS was also observed.ConclusionsWe can conclude that syndrome Z presents a high prevalence in a female population with MetS and a considerable severity according to the presence of OSA. Therefore, patients with MetS should be investigated for the presence of sleep disorders. Trial registration The study has been registered on ClinicalTrials.gov NCT02409160 and followed the standards of The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: guidelines for reporting observational studies

flash glucose monitoring system (fGMS) is an improved subset of continuous glucose monitoring with a recognized effectiveness on glycemic control, though validation in patients with Liver Cirrhosis (LC) is lacking. To evaluate the accuracy of FGMS in patients with Type 2 Diabetes Mellitus (DM) and LC, a prospective, case-control study was performed in 61 ambulatory patients with LC and DM (LC group, n = 31) or DM (Control group, n = 30). During 14 days, patients performed 4 assessments per day of self-monitoring of blood glucose (SMBG, reference value) followed by FGMS scanning. There were 2567 paired SMBG and FGMS values used in the accuracy analysis, with an overall mean absolute relative difference (MARD) of 12.68% in the LC group and 10.55% in the control group (p < 0,001). In patients with LC, the percentage of readings within Consensus Consensus Error Grid analysis Zone A and A + B were 80.36% and 99,26%, respectively. Sensor clinical accuracy was not affected by factors such as body mass index, age, gender, Child-Pugh score or edematoascitic decompensation. This is the first study to approach FGMS clinical accuracy in LC, revealing a potential usability of this system to monitor glycemic control in this population. Type 2 Diabetes Mellitus (DM) has been considered a Public Health challenge due to its significant impact on mortality and morbidity worldwide 1. The interplay between DM or even impaired glucose tolerance and Chronic Liver Disease (CLD) is now well established in the literature 2-7. Even though DM is a well-recognized metabolic risk factor for CLD 8,9 , the liver also plays a primary role in carbohydrate metabolism, thus DM can also occur as a result of CLD progression 2,9. In fact, among patients with liver cirrhosis (LC), the prevalence of DM ranges from 7 to 60%, according to different authors 2,3,7. Moreover, DM increases the risk of cirrhosis complications and mortality by liver failure 4,6. Diagnosis and management of DM in patients with CLD can be extremely challenging 10,11. Despite the limitations described in the literature, the current options for their glycemic control monitoring are the same as the recommended for DM population in general 11,12. Glycated Hemoglobin (HbA1c) is routinely used as a standard measure for long-term glucose control 13 and estimates the average glycemic status over the last 3 months 7. This measurement frequently underestimates glycemic control in LC, probably as a result of shortened red blood cells half-life due to hypersplenism, blood loss into the gastrointestinal tract or iron deficiency 7,12-15. Fructosamine also provides an estimation of average blood glucose during the past 2 weeks 15. Since it represents stable ketoamines formed from glycated plasmatic proteins, this may be potentially altered by hypoalbuminemia and hyperbilirubinemia, commonly observed in CLD 7,16. Glycated albumin is fructosamine main fraction, therefore it has similar limitations 7. CLD-HbA1c formula suggested by Koga et al. 17 combines HbA1c with glycated albumin. Although it ...

Individuals with craniofacial deformities have a higher risk of developing oral diseases. This article discusses craniosynostosis and its oral problems. Dental treatment protocols based on general, facial, oral, and psychological aspects are offered.

Introduction: The Chronic Kidney Disease (CKD) is characterized as a clinical condition wherein the progressive loss of renal function for a period longer than months to years will lead to the onset of end-stage renal disease (ESRD). In the advanced stages of CKD, patients can only be treated with replacement therapy, dialysis or transplantation. In this context, hemodialysis (HD) presents as the main treatment option for these patients due to the lack of donors. Patients with ESRD in HD often present signs and symptoms related to pre-existing or acquired comorbidities with worsening of the disease. The most frequent are electrolytic disturbances, anemia, malnutrition, bone disease, Melittus diabetes, systemic arterial hypertension, gastrointestinal disorders, respiratory disorders, cardiovascular diseases, neurological changes and sleep disorders. Obstructive sleep apnea (OSA) presents a tenfold prevalence in patients with ESRD when compared to the general population, worsening the clinical symptoms and cardiovascular complications of this disease. The increase in the number of ESRD patients submitted to HD has assumed epidemic proportions worldwide. The causal association between sleep-disordered breathing, in particular OSA and ESRD, is still not well understood, which expands the possibility of new findings for the prevention, diagnosis and treatment of OSA, improving quality of life and reducing morbimortality. Objective: The present study involving ESRD patients undergone HD was designed with three main objectives: 1) to verify the prevalence and severity of sleep-disordered breathing; 2) to analyze the behavior of sleep apnea / hypopnea index (AHI) during the interdialitic period; 3) to verify weight gain and anthropometric measurements during the interdialitic period. A consecutive single-center cross-sectional clinical study will be performed, double-blind, non-randomized to investigate the behavior of AHI in patients with ESRD undergoing HD in the nephrology unit (UNEFRO) at the Hospital of Santa Casa de Misericordia de Avaré, (SP), Brazil. The design and conduct of this study followed the guidelines of the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement. Trial Registration: This protocol follows the STROBE (STrengthening the Reporting of OBservational studies in Epidemiology) and the study has been registered on ClinicalTrials.gov (NCT02390193).

Introduction: The Syndrome Z (SyndZ) has been drawing scientific community’s attention on the past years. It is characterized by the interaction between obstructive sleep apnea (OSA) and Metabolic Syndrome (MetS). On its turn, MetS is knew for the association with various metabolic disturbances occurring simultaneously in the same patient, those of which include central obesity, systemic hypertension (SH), glucose intolerance or insulin resitance, low serum high-density lipoprotein cholesterol (HDL), and elevated serum triglycerides. OSA is a prevalent condition all over the world, and presents potential adverse health outcomes, with a particular impact in cardiovascular diseases. Therefore, OSA and MetS present important cardiovascular risk factors, that when superimposed can mean a higher cardiovascular morbi-mortality. This associated pathogenesis has not been completely elucidated. Objectives: A pilot study to determine the prevalence and severity of SyndZ in severely obese female patients on the waiting list for bariatric surgery. Methods/Design: This cross-sectional study will be conducted with severely obese female patients, on waiting list for bariatric surgery, from the Santa Casa de Misericordia de São Paulo Hospital, in the city of Sao Paulo (Brazil). Demographic, anthropometric and clinical data will be collected, as well as blood’s biochemical analysis. The patients will also undergo standard overnight polysomnography at the Sleep Laboratory of Nove de Julho University.

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