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.     

Influence of the COVID-19 Pandemic on the Lifestyles of Health Sciences University Students in Spain: A Longitudinal Study

The COVID-19 pandemic has significantly impacted daily activities worldwide. University students may have experienced substantial changes in daily living as a result of restrictions on university attendance. The return to normalcy may take a long time, and understanding the influence that shifts in daily routines have had on the lifestyles of university students may inform approaches to support overall well-being. We analyzed changes in the lifestyles of students enrolled at a health sciences university during the COVID-19 pandemic. This longitudinal study took place at the Faculty of Medicine and Nursing in the University of the Basque Country in Spain, and the final sample consisted of 113 nursing students, 109 medical students, and 45 physiotherapy students. Our results demonstrate changes in lifestyles of university students during the pandemic. MedDiet adherence scores and the percentage of students with high adherence increased during the pandemic. This increase was due to the increased consumption of vegetables and nuts. In terms of physical activity, the practice of moderate and intense physical activity was maintained. These results provide important information for both public health authorities and educational institutions to guide strategies to maintain the well-being of students and enhance opportunities for young adults to lead a healthy lifestyle.     

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.     

Appropriateness of total hip joint replacement.

OBJECTIVE: To evaluate the appropriateness of the use of total hip joint replacements. DESIGN: Observational study of consecutive patients with a diagnosis of hip osteoarthritis and who had undergone total hip arthroplasty over a 1-year period from seven hospitals. MAIN MEASURES: The appropriateness of the use of hip replacement was judged by explicit criteria developed by a panel of experts using RAND methodology. The length of hospital stay during the admission and complications were recorded 6 months post-operatively. Patients were also surveyed 6 months after discharge to determine whether they believed they had recovered or their satisfaction with the intervention. Appropriateness results of this study were compared with a previous study performed with the same criteria 4 years previously. RESULTS: In total, 784 patients participated in the study. Indications for surgery were considered necessary in 52.2% of cases, appropriate in 21.3%, uncertain in 21.4%, and inappropriate in 5.1%. Differences were found in the rates of appropriateness exclusively from one hospital. At 6 months after discharge, differences between centres were found for the proportion of patients that reported they had recovered from surgery (range 57.7-24.8%) and in the length of hospital stay during admission (range 10-16 days). Improvement in the appropriateness rates were found for all participant hospitals during both periods. CONCLUSIONS: We identified a low percentage of inappropriate indications and differences in some outcomes between centres. Compared with previously, there has been improvement in the use of this technique, although both periods are not methodologically comparable.     

The marine toxin dinophysistoxin-2 induces differential apoptotic death of rat cerebellar neurons and astrocytes.

Diarrhetic shellfish poisoning (DSP) toxins of algal origin are frequent contaminants of coastal waters and seafood. The potential risk for human health due to the continuous presence of these toxins in food has not been clearly established. We have used cerebellar primary cultures to investigate the effects of the DSP toxin dinophysistoxin-2 (DTX-2) on central nervous system neurons and glial cells. Exposure to DTX-2 produced neurotoxicity at concentrations starting at 2.5 nM, characterized first by disintegration of neurites and later by cell death. DTX-2-induced neurodegeneration required long exposures (at least 20 h), involved DNA fragmentation and condensation and fragmentation of chromatin, typical hallmarks of apoptosis, and required the synthesis of new proteins. The concentration that reduced by 50% the maximum neuronal survival after 24 h exposure to DTX-2 (EC50(24)) was approximately 8 nM. Morphology and viability of glial cells remained unaffected up to at least 15 nM DTX-2. Higher concentrations of the toxin caused strong shrinkage of glial cell bodies and retraction of processes, and a significant reduction of glial cell viability. Glial toxicity by DTX-2 involved typical apoptotic condensation and fragmentation of chromatin. Compared to neurons, the effect on glial cells was a much shorter process, and extensive glial degeneration and death occurred after 7 h exposure to DTX-2 (EC50(7) approximately 50 nM; EC50(24) approximately 30 nM). Although further experiments are needed to confirm these toxic actions in vivo, our in vitro data suggest that chronic exposure to amounts of DSP toxins below the current safety regulatory limits may represent a risk for human health that should be taken into consideration.     

Social Factors Associated with the Knowledge About HIV of the Immigrants from China, Latin America, the Maghreb and Senegal in the Basque Country (Spain)

The objective of this study was to identify the social factors that explain the differences in knowledge with regards to HIV/AIDS among immigrants in the Basque Country (Spain). We conducted a cross-sectional study based on information obtained in the Basque Health Survey for 754 immigrants from: 86 China, 368 Latin America, 237 the Maghreb and 74 Senegal. Odds ratios (95% CI) were calculated from logistic regression models to measure the degree of association between inadequate knowledge regarding transmission, prevention and places where HIV testing is offered, and the independent variables. We found that this inadequate knowledge is associated with place of birth, sex, a lower level of education, immigration status, difficulties in understanding Spanish, and not receiving advice about AIDS in primary care. These findings indicate that initiatives must be developed to promote equity in the provision of healthcare through clinical guidelines, including details of the specific needs of different groups of immigrants and considering gender issues.