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Competing Interests: Conflict of interest: None declared.

Background: NPHS2 gene variants are associated with focal segmental glomerulosclerosis (FSGS) and steroid-resistant nephrotic syndrome (SRNS). In this study, the prevalence of NPHS2 variants p.R229Q, p.A242V, and p.R138Q was investigated in patients with familial or sporadic FSGS., Materials and Methods: The sample consisted of 40 children and 70 adults diagnosed with FSGS confirmed by renal biopsy. Clinical and laboratory parameters were evaluated. Genotyping for the three single nucleotide polymorphisms (SNPs) was performed by real-time polymerase chain reaction: two variants in exon 5 (p.R229Q and p.A242V) and one in exon 3 (p.R138Q). Variants were correlated with ethnicity, clinical presentation, treatment response, and renal outcomes., Results: Among the 40 children analyzed, 20% had familial and 80% sporadic FSGS and among adults, 4.3% had familial and 95.7% sporadic FSGS, respectively. Overall, SRNS was found in 70% of adults and 90% in children. Among children, variants were detected in 2 (5%) with sporadic FSGS, p.R229Q and p.A242V in 1 each. Among adults, variants were present in 9 (12.9%) patients, all with sporadic FSGS, p.R229Q in 4 and p.A242V in 5. No patient had the p.R138Q variant. Among adults, a trend of higher proteinuria at the end of follow-up (p = 0.06) was found in patients carrying a variant. There was no significant association between NPHS2 variants with the clinical presentation, dependence on immunosuppressive treatment, or renal outcomes. Regarding ethnicity, all patients carrying the p.R229Q variant were White, while 67% of carriers of the p.A242V variant were Black., Conclusion: In these patients with familial or sporadic FSGS, the prevalence of p.R229Q and p.A242V variants in children was 5% and in adults 12.9%. More studies of patients with FSGS could better define a strategy for genetic analysis and therapeutic management.

Background: Risk stratification for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) is based on different algorithms proposed by the 2011 ACCF/AHA and 2014 ESC guidelines., Objective: To analyze the 2014 ESC model for SCD risk stratification and primary prevention ICD (implantable cardioverter defibrillator) in HCM in comparison to the North American guideline., Methods: An HCM cohort was evaluated and the ESC HCM-Risk SCD score was calculated. Agreement of ICD recommendations criteria between the two guidelines was analyzed with Kappa coefficient. P<0.05 was adopted for the statistical analysis., Results: In 90 consecutive patients followed for 6±3 years, the mean calculated ESC risk score was 3.2±2.5%. The risk predictors that have mainly contributed to the score calculation in the low (1.88% [1.42-2.67]), intermediate (5.17% [4.89-5.70]) and high-risk (7.82% [7.06-9.19]) categories were: maximal left ventricular wall thickness (1.60% [1.25-2.02]; 3.20% [3.18-3.36]; 4.46% [4.07-5.09]), left atrial diameter (0.97% [0.83-1.21]; 1.86% [1.67-2.40]; 2.48% [2.21-3.51]) and age (-0.91% [0.8-1.13]; -1.90% [1.12-2.03]; -2.34% [1.49-2.73]). The European model decreased the ICD recommendations in 32 (36%) patients. Among the 43 (48%) individuals with class IIa recommendation under the 2011 ACCF/AHA guideline, 8 (18%) were downgraded to class IIb and 24 (56%) to class III. Low agreement was found between the two systems: Kappa=0.355 and p=0.0001. In 8 (9%) patients with SCD or appropriate shock, 4 (50%) met class IIa indication with the 2011 ACCF/AHA guideline, but none achieved this class of recommendation with the 2014 ESC model., Conclusion: Low agreement was found between the two strategies. The novel ESC model decreased the ICD recommendations, especially in those with class IIa recommendation, but left unprotected all patients with SCD or appropriate shock. (Arq Bras Cardiol. 2020; 115(2):197-204).

Objective: to evaluate the main risk factors for postoperative complications in patients undergoing appendectomy for acute appendicitis., Methods: we retrospectively analyzed 1241 patients undergoing open or laparoscopic appendectomy. Patients were allocated to four groups: Group 1, without postoperative complications, and Groups 2, 3, and 4, with postoperative complications defined according to their severity, following Clavien-Dindo classification (I, II, and ≥III, respectively)., Results: patients aged ≥38.5 years had more severe complications (p<0.0001). Patients in Group 1, without postoperative complications, had, for the most part, a laparoscopic approach. Groups 2, 3, and 4 underwent, predominantly, to an open surgery (p<0.0001). In cases of acute appendicitis, the odds ratio (OR) for complications was 3.09, 3.04, and 12.41 for Groups 2, 3, and 4, respectively (p<0.0001). Anesthetic risk, duration of the procedure, and length of hospital stay were related to a higher risk and severity of complications., Conclusion: the main predicting factors of postoperative complications in patients operated for acute appendicitis were: age ≥38.5 years, conventional or open surgical access, complicated appendicitis, ASA≥2, and surgical time >77 minutes.