Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis

Cystic Fibrosis (CF) is the most common and severe autosomal recessive disease in Caucasian populations, with an incidence of 1 in 2500 live births. It is characterized by a generalized disturbance in exocrine glands and it is caused by over one thousand mutations at the cystic fibrosis conductance regulator gene (CFTR) mapped at 7q31. AF508 is the most frequent mutation worldwide and it consists in a deletion of the codon that encodes fenilalanine at the 508 protein's position. The aim of this study was to determine the frequency of the delta F508 mutation in Venezuelan patients with CF using the Polymerase Chain Reaction (PCR). We studied thirty patients of twenty eight families who were diagnosed with CF based on their clinical features and sweat chloride level > 60 mEq/l in two determinations. Detection of the mutation was performed from the amplification of a 98 pair of bases (pb) CF gene segment which contains the codon that encodes fenilalanine in the 508 position by PCR. This PCR product is absent in those who have the mutation. The delta F508 allelic frequency was 26.79%, distributed in six homozygous and seven compound heterozygote delta F508/X. The reminder mutations (no delta F508) represent 73.21%. The delta F508 frequency in our sample is less than the reported in European countries. On the other hand, a delta F508 frequency highly heterogeneous has been observed in Latin-American countries. This variation results from mixed populations with a different genetic background influenced by external migration and CF molecular alterations, which exists in the analyzed populations. In this study, the delta F508 mutation comes mainly from grandparents (79.41%) who were born in Mediterranean countries and Colombia, while the no delta F508 mutations come from grandparents who were born in Venezuela (79.27%) and Colombia (17.07%).     

S2 episome of maize mitochondria encodes a 130-kilodalton protein found in male sterile and fertile plants

The mitochondrial genome of the S-type male-sterile cytoplasm of maize contains two linear episomes, S1 (6397 base pairs) and S2 (5453 base pairs). The S2 episome contains two large unidentified open reading frames, URF1 (3512 base pairs) and URF2 (1017 base pairs). We have demonstrated that a polypeptide with an apparent molecular mass of 130 kDa is the gene product of URF1. This polypeptide was first detected in Coomassie blue-stained protein gels of cms-S (where cms = cytoplasmic male sterile) but not in those of cms-T, cms-C, or normal mitochondrial proteins. The protein product of a translational fusion containing the 5′ end of Escherichia coli lacZ and an internal segment from URF1 of S2 was recognized by antisera raised against the 130-kDa variant polypeptide. The mitochondria of fertile F₁ hybrids of cms-S × Ky21 (the male parent carrying nuclear fertility restoration genes) contain as much of the 130-kDa protein as is found in cms-S mitochondria of sterile plants. Spontaneous fertile cytoplasmic revertants from cms-S in a WF9 nuclear background also synthesized the 130-kDa polypeptide. Therefore, the mere presence or absence of the URF1 gene product of S2 does not determine the fertility status of maize plants, because male sterile and male fertile (nuclear restored and revertant) plants can contain equivalent amounts of the 130-kDa polypeptide.     

Hemodynamic changes during laparoscopic surgery. Preliminary study

The haemodynamic changes produced by laparoscopic surgery in children have been evaluated. A transesophageal echocardiographic study on 13 patients (7 males and 6 females, 10.8 +/- 2.7 years old) has been performed before, during and after peritoneal CO2 gas insufflation. A change on the Doppler waves pattern of the infradiaphragmatic veins along with an increase in blood flow velocity were observed. Pulmonary veins suffered minimal changes showing an increase on either the systolic pressure and on atrial contraction. Diastolic retrograde flow in aorta reflected an increase in peripheral vascular resistance. Cardiac output increased minimally. All haemodynamic changes returned to basal after gas peritoneal desufflation. These data show that laparoscopic surgery could produce important cardiac derangements in children with ventricular dysfunction or in patients presenting left ventricular outlet obstruction. In these patients laparoscopic surgery might be precluded.     

Enfermedad fúngica invasora: ¿Diagnóstico micológico convencional o molecular?

Diagnosis of invasive mycoses is a difficult challenge due to the limitations and low sensitivity of traditional microbiology methods which lead to diagnostic and therapeutic delays. The aim of this review is to summarise the state of the art of the molecular diagnosis of invasive fungal disease and to clarify its current role in the clinical practice. Conventional microbiological methods could be complemented with molecular methods in the rapid and definitive identification of fungal isolates. Biomarkers (β-glucan, galactomannan) are very useful in immunocompromised patients and have been included as probable invasive mycoses by the EORTC/MSG. Nucleic acid detection is currently used as a complementary tool for diagnosis. However, PCR can be very useful in mould invasive mycoses. Finally, the combined detection using biomarkers can improve the diagnosis. However, their applicability in the microbiology laboratory is not so easy and further studies are required for the appropriate evaluation of its clinical usefulness.     

Advances in pediatric cardiology and congenital heart diseases

This article reviews the most significant developments reported between July 2006 and July 2007 in the fields of pediatric cardiology and congenital heart disease, in diagnosis and treatment in particular. In the area of imaging techniques, the increasing clinical roles of magnetic resonance imaging, tissue Doppler imaging and three-dimensional echocardiography are highlighted, as is the application of these techniques to fetal cardiology and its repercussions. The incidence and treatment of arrhythmias in children are also discussed and, with regard to heart failure, there is an assessment of recent findings in epidemiology and diagnosis, new drugs, ventricular assist systems, and the current status of heart transplantation. In the area of interventional cardiology, present-day techniques for the closure of atrial and ventricular septal defects are reviewed and there is an assessment of early results with partially absorbable devices, percutaneous pulmonary valve implantation, and new types of stent (e.g., premounted, coated and absorbable stents). In cardiac surgery, the focus is on studies that evaluate outcome quality, the search for new biocompatible conduits, experience with new techniques for treating complex transpositions (e.g., the Nikaidoh procedure and its variants), the medium- and long-term results of treating aortic valvular disease with pulmonary autografts (i.e., the Ross and Ross-Konno procedures), and current findings on the treatment of pulmonary insufficiency after correction of either the tetralogy of Fallot or a dysfunctional Fontan circuit.     

Pericarditis secondary to the rupture of a hydatid cyst

Cardiac hydatic cysts are rare and represent 0.5 to 2% of all hydatic cysts in humans, but usually associated with fatal complications. We report a case of a male 27 years old with a hydatid cyst located in left ventricle asymptomatic until rupture. It was diagnosed by two-dimensional echocardiogram in a control.     

Acute effect of Snus on physical performance and perceived cognitive load on amateur footballers

Smokeless tobacco (Snus) is a substance that contains nicotine, which has been placed on World Anti‐Doping Agency's 2014 Monitoring Program. A proliferation of nicotine use in sport has been observed in recent years, but little is known regarding its effects, especially on football players' performance. Therefore, the aim of this study was to assess the effect of Snus on physical performance, heart rate variability, subjective activation, mental fatigue, and perceived readiness before a physical test in non‐smoker, non‐Snus user, amateur football players. Participants were administered either Snus or placebo 40 min prior to a fitness test battery (handgrip test, countermovement jump, agility test, and Yo‐Yo intermittent recovery test). Results showed that Snus intake (compared with placebo) increased perceived mental fatigue level and mental load, and reduced perceived readiness level and heart rate variability. No significant differences between the two experimental conditions were found in either performance in the physical tests or perceived physical fatigue levels. In light of these results, Snus could not be considered an ergogenic substance. On the contrary, based on the extant evidence linking mental load and fatigue with physical performance, we argue that the observed negative effects on mental fatigue, perceived readiness, and heart rate variability should be considered.     

CLEC-2 and Syk in the megakaryocytic/platelet lineage are essential for development

The C-type lectin receptor CLEC-2 signals through a pathway that is critically dependent on the tyrosine kinase Syk. We show that homozygous loss of either protein results in defects in brain vascular and lymphatic development, lung inflation, and perinatal lethality. Furthermore, we find that conditional deletion of Syk in the hematopoietic lineage, or conditional deletion of CLEC-2 or Syk in the megakaryocyte/platelet lineage, also causes defects in brain vascular and lymphatic development, although the mice are viable. In contrast, conditional deletion of Syk in other hematopoietic lineages had no effect on viability or brain vasculature and lymphatic development. We show that platelets, but not platelet releasate, modulate the migration and intercellular adhesion of lymphatic endothelial cells through a pathway that depends on CLEC-2 and Syk. These studies found that megakaryocyte/platelet expression of CLEC-2 and Syk is required for normal brain vasculature and lymphatic development and that platelet CLEC-2 and Syk directly modulate lymphatic endothelial cell behavior in vitro.