Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

X‐linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype–phenotype correlations.     

Socialization Patterns and Their Associations with Unprotected Anal Intercourse,HIV, and Syphilis Among High-Risk Men Who Have Sex with Men and Transgender Women in Peru

The association of socialization patterns with unprotected anal intercourse (UAI) and HIV/STI prevalence remains underexplored in men who have sex with men (MSM) and transgender women (TW) in developing country settings. We evaluated the correlation of UAI, HIV, and syphilis with MSM/TW venue attendance and social network size among high-risk MSM and TW in Peru according to self-reported sexual identity. Frequency of venue attendance and MSM/TW social network size were lowest among heterosexual MSM and highest among TW respondents. Attendance (frequent or occasional) at MSM/TW venues was associated with increased odds of insertive UAI among heterosexual participants. Frequent venue attendance was associated with increased odds of receptive UAI among gay/homosexual, bisexual, and TW participants. Further investigation of the differing socialization patterns and associations with HIV/STI transmission within subgroups of Peruvian MSM and TW will enable more effective prevention interventions for these populations.     

Brugada Phenocopy Clinical Reproducibility Demonstrated by Recurrent Hypokalemia

Brugada phenocopies (BrP) are clinical entities that are etiologically distinct from true congenital Brugada syndrome (BrS). BrP are characterized by type 1 or type 2 Brugada electrocardiogram (ECG) patterns in precordial leads V₁–V₃; however, BrP are elicited by various underlying clinical conditions such as electrolyte disturbances, myocardial ischemia, or poor ECG filters. In this report, we describe the first case of clinically reproducible BrP which is important to the conceptual evolution of BrP.