Clinical follow-up of a pregnant woman with cor triatriatum

Cor triatriatum (CT) is a rare congenital cardiac anomaly that usually becomes symptomatic in the first years of life. If the condition is not associated with other cardiac defects, and depending on the degree of communication between the upper chamber and left atrium (LA), patients may reach adulthood. We report a case of an asymptomatic, adult, female patient with CT diagnosed by transthoracic echocardiogram (TTE) and followed-up during pregnancy.     

Investigations of the estrogen (ER-ICA-test) and the progesterone receptor in the prostate and prostatic carcinoma on immunohistochemical basis

Summary Estrogen (ER) and Progesterone receptors (PR) were demonstrated immunohistochemically on frozen sections from 11 prostatectomy and 7 cystoprostatectomy specimens in the nuclei of various cell types. The periglandular fibrocytes and smooth muscle cells were extensively positive, the interglandular stromal cells were only partly so. Normal basal cells stained focally positive, hyperplastic basal cells stained extensively. The glandular secretory epithelium and atrophic glands were negative. The same findings were obtained in hyperplastic nodules. Both ER and PR also occurred in the urothelium of central prostatic ducts and of the prostatic urethra. The fibrous stroma around the ejaculatory ducts and seminal vesicles was extensively positive while the epithelium was negative. The smooth musculature of the seminal vesicles was only partly positive. On large field sections, the ER as well as the PR were numerically equally distributed throughout the inner zone of the prostate and the prostate proper. 12 prostatic carcinomas (G I–G III) were ER- and PR-negative. Estrogens may contribute to nodular hyperplasia by triggering a stromal proliferation with a secondary inductive epithelial growth. Obviously they do not act directly on prostatic carcinoma but inhibit growth via the hypophyseal-testicualr axis. The biological significance of the PR in the prostate is unknown.     

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Restrictive dermopathy (RD) is a lethal condition caused by biallelic loss-of-function mutations in ZMPSTE24, whereas mutations preserving residual enzymatic activity of the ZMPSTE24 protein lead to the milder mandibuloacral dysplasia with type B lipodystrophy (MADB) phenotype. Remarkably, we identified a homozygous, presumably loss-of-function mutation in ZMPSTE24 [c.28_29insA, p.(Leu10Tyrfs*37)] in two consanguineous Pakistani families segregating MADB. To clarify how lethal consequences are prevented in affected individuals, functional analysis was performed. Expression experiments supported utilization of two alternative translation initiation sites, preventing complete loss of protein function consistent with the relatively mild phenotypic outcome in affected patients. One of these alternative start codons is newly formed at the insertion site. Our findings indicate that the creation of new potential start codons through N-terminal mutations in other disease-associated genes should generally be taken into consideration in the variant interpretation process.     

How robust is the relationship between neural processing speed and cognitive abilities?

Individual differences in processing speed are consistently related to individual differences in cognitive abilities, but the mechanisms through which a higher processing speed facilitates reasoning remain largely unknown. To identify these mechanisms, researchers have been using latencies of the event-related potential (ERP) to study how the speed of cognitive processes associated with specific ERP components is related to cognitive abilities. Although there is some evidence that latencies of ERP components associated with higher-order cognitive processes are related to intelligence, results are overall quite inconsistent. These inconsistencies likely result from variations in analytic procedures and little consideration of the psychometric properties of ERP latencies in relatively small sample studies. Here we used a multiverse approach to evaluate how different analytical choices regarding references, low-pass filter cutoffs, and latency measures affect the psychometric properties of P2, N2, and P3 latencies and their relations with cognitive abilities in a sample of 148 participants. Latent correlations between neural processing speed and cognitive abilities ranged from −.49 to −.78. ERP latency measures contained about equal parts of measurement error variance and systematic variance, and only about half of the systematic variance was related to cognitive abilities, whereas the other half reflected nuisance factors. We recommend addressing these problematic psychometric properties by recording EEG data from multiple tasks and modeling relations between ERP latencies and covariates in latent variable models. All in all, our results indicate that there is a substantial and robust relationship between neural processing speed and cognitive abilities when those issues are addressed.