Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.

CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient's parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.

Artificial light at night may increase the predation pressure in a salt marsh keystone species.

Artificial light at night (ALAN) has the potential to alter ecological processes such as the natural dynamics of predator-prey interactions. Although understanding of ALAN effect on faunal groups has increased in recent years, few studies have explicitly tested for direct consequences of ALAN on predator-prey systems. Here, we evaluated the effect of ALAN on juvenile mortality due to cannibalism and general predation of the South American intertidal burrowing crab Neohelice granulata, a key ecosystem engineer of salt marshes. For this, we conducted tethering and crab enclosure experiments for both night and day periods during successive tidal floods in a semidiurnal tidal regime. Both experimental approaches were deployed simultaneously in the field and they lasted four consecutive days during new moon nights. ALAN was simulated by a white LED lamp (30W) with a solar panel as a source of power in five separated areas selected as replicates. For general predation, juvenile survival under ALAN was 44% lower than during the daytime and 61% lower than under natural dark conditions. For cannibalism, juvenile survival under ALAN and during the daytime was similar and about 30% lower than under natural dark conditions. We also found that the abundance of adult male crabs (cannibals) under ALAN was nearly five times higher than at natural dark conditions. Our field experiments provide evidence that ALAN can increase the mortality of juvenile crabs and is at least partially driven by cannibalistic interactions.

RNAIII inhibiting peptide (RIP) inhibits agr-regulated toxin production.

Staphylococcal enterotoxins (SEs) are emetic toxins that cause food poisoning. SEs also function as powerful pyrogenic toxin superantigens that stimulate non-specific T-cell proliferation. Together with the hemolysins, SEs have been largely implicated as virulence factors in multiple infection models. Recent biochemical and genetic analyses have demonstrated that production of some of these toxins is partially regulated by quorum sensing mechanisms where proteins and peptides activate the accessory gene regulator (agr). Because toxin production is central to bacterial pathogenesis, therapeutic strategies alternative to antibiotics, and based on rational interference of the quorum sensing systems involved, are currently being developed. This approach would lead to repression of toxin production and, thus, to disease prevention. Here we provide evidence to conclude that synthetic analogs of the RNAIII inhibiting peptide (RIP) and antibodies to its target molecule TRAP function in vitro as efficient suppressors of agr-regulated exotoxin production by Staphylococcus aureus.