We present a case with a partial duplication 5p11-->5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed.

Drug safety issues pose serious health threats to the population and constitute a major cause of mortality worldwide. Due to the prominent implications to both public health and the pharmaceutical industry, it is of great importance to unravel the molecular mechanisms by which an adverse drug reaction can be potentially elicited. These mechanisms can be investigated by placing the pharmaco-epidemiologically detected adverse drug reaction in an information-rich context and by exploiting all currently available biomedical knowledge to substantiate it. We present a computational framework for the biological annotation of potential adverse drug reactions. First, the proposed framework investigates previous evidences on the drug-event association in the context of biomedical literature (signal filtering). Then, it seeks to provide a biological explanation (signal substantiation) by exploring mechanistic connections that might explain why a drug produces a specific adverse reaction. The mechanistic connections include the activity of the drug, related compounds and drug metabolites on protein targets, the association of protein targets to clinical events, and the annotation of proteins (both protein targets and proteins associated with clinical events) to biological pathways. Hence, the workflows for signal filtering and substantiation integrate modules for literature and database mining, in silico drug-target profiling, and analyses based on gene-disease networks and biological pathways. Application examples of these workflows carried out on selected cases of drug safety signals are discussed. The methodology and workflows presented offer a novel approach to explore the molecular mechanisms underlying adverse drug reactions.

Background: The global prevalence of postpartum depression is about 20%. This disease has serious consequences for women, their infants, and their families. The aim of this randomized clinical trial was to analyze the effectiveness and safety of a moderate-intensity aerobic water exercise program on postpartum depression, sleep problems, and quality of life in women at one month after delivery. Methods: This was a multi-center, parallel, randomized, evaluator blinded, controlled trial in a primary care setting. Pregnant women (14–20 weeks gestational age) who had low risk of complications and were from five primary care centers in the area covered by the obstetrics unit of Son Llatzer Hospital (Mallorca, Spain) were invited to participate. A total of 320 pregnant women were randomly assigned to two groups, an intervention group (moderate aquatic aerobic exercise) and a control group (usual prenatal care). One month after birth, sleep quality (MOS sleep), quality of life (EQ-5D), and presence of anxiety or depression (EPDS) were recorded. Findings: Women in the intervention group were less likely to report anxiety or depression on the EQ5D (11.5% vs. 22.7%; p < 0.05) and had a lower mean EPDS score (6.1 ± 1.9 vs. 6.8 ± 2.4, p < 0.010). The two groups had no significant differences in other outcomes, maternal adverse events, and indicators of the newborn status. Conclusion: Moderate-intensity aquatic exercise during pregnancy decreased postpartum anxiety and depressive symptoms in mothers and was safe for mothers and their newborns.

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.