Development of a hybrid cell for energy production.

This study focuses on the development of a new hybrid biological material to be applied in the production of electrical energy. These organo-metallic cells are constituted by cyanobacteria (Fischerella muscicola) and silver nanoparticles (AgNPs). AgNPs were obtained by green synthesis using the extract of the fruit of theBerberis halliiplant as reducing agent with two different concentrations of silver nitrate (AgNO3), 1 and 10 mM. The morphology, physicochemical and electrical properties of the cyanobacteria with and without AgNPs were evaluated. To verify the efficacy of this new material, and the effect of the medium used, Nitrofoska or BG-11, the growth kinetics was evaluated by UV-vis up tot= 63 d with and without renewal of the culture medium and O2/CO2exchange. Through morphological characterizations ofFischerella muscicolait was possible to identify the presence of an associated bacterium identified using molecular techniques asPseudomona guguanensithat could act as a supporting organism in the growth of this cyanobacteria. The studies carried out did not shown cell toxicity for the cultures that have AgNPs and on the other hand, it was observed that the hybrid cells (Cy-AgNPs) are electron carriers recording an increase of up to 57% and 18% in their electrical potential with BG-11 and Nitrofoska culture media, respectively and an increase in the anodic current peak of 6.5% of Cy-AgNPs respect to onlyF. musicola.

Homozygous Hb Stanleyville-II [alpha2 78(EF7) Asn>Lys; HBA2:c.237C>A, not C>G] associated with genotype -α 3.7/-α 3.7 in two Brazilian families.

INTRODUCTION: Several hemoglobin variants have electrophoretic behavior similar to hemoglobin S, which may lead to false diagnosis for sickle-cell disorders in newborn screening programs. A homozygous hemoglobin with S mobility was detected in two unrelated babies in Brazil. METHODS: Isoelectric focusing and high-performance liquid chromatography assays, gene sequencing, and restriction fragment length polymorphism with AfeI were used to characterize the hemoglobin. RESULTS: Hb Stanleyville-II and -α(3.7) /-α(3.7) type I deletion in the α-globin gene was diagnosed. Parents were heterozygous for both Hb Stanleyville-II and α-thalassemia. Hypochromia and microcytosis were probably due to the homozygous α-thalassemia. CONCLUSION: Stanleyville-II gene mutation is HBA2:c.237C>A, or C>G, and this information on the Globin Gene Server should be updated; AfeI test is a fast and accurate method to detect it; NBS programs should consider the possibility of Hb Stanleyville-II whenever IEF shows one band in the HbS position, and another one between S and C.

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6 percent. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2 percent was observed for the F508del mutation, and allele frequencies of 5.41, 4.50, 4.05, and 3.60 percent were found for the R1162X, G542X, 3120+1G>A, and G85E mutations, respectively. The genotypes obtained were in Hardy-Weinberg equilibrium. These data demonstrate that the 8-mutation panel studied here has extensive coverage (68 percent) for the cystic fibrosis mutations in Minas Gerais. These data improve our knowledge of cystic fibrosis in Brazil, particularly in this region. In addition, this investigation contributed to the establishment of a sensitive and population-specific mutation panel, which can be helpful for molecular diagnosis of cystic fibrosis.

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening.

The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2% was observed for the F508del mutation, and allele frequencies of 5.41, 4.50, 4.05, and 3.60% were found for the R1162X, G542X, 3120+1G>A, and G85E mutations, respectively. The genotypes obtained were in Hardy-Weinberg equilibrium. These data demonstrate that the 8-mutation panel studied here has extensive coverage (68%) for the cystic fibrosis mutations in Minas Gerais. These data improve our knowledge of cystic fibrosis in Brazil, particularly in this region. In addition, this investigation contributed to the establishment of a sensitive and population-specific mutation panel, which can be helpful for molecular diagnosis of cystic fibrosis.

Evaluación de la actividad hipotensora del Maytenus krukovii (chuchuhuasi) en rata conciente / Maytenus krukovii (chuchuhuasi) effects on blood pressure and cardiac frequency in conscious rats

Maytenus krukovii (chuchuhuasi), oriunda de la amazonía sudamericana, tradicionalmente se le atribuye acción analgesica, antiinflamatoria, afrodisíaca entre otros; investigaciones reportan acción analgésica con intermediación de receptores opiáceos, efecto antipirético, antiinflamatorio y gastroprotector. El presente estudio experimental indagó acerca de la acción sobre la presión arterial y frecuencia cardiaca del chuchuhasi en rata conciente. Se utilizaron 10 ratas albinas machos, a las que se les administró vía oral, 1000 mg/kg de extracto metanolico de chuchuhuasi, se registraron básales y controles de presión arterial y frecuencia cardiaca a las 1, 3, 4 y 24 horas, utilizando el LE 5000 Meter Pressure. Los resultados obtenidos muestran comparados con los valores basáles, actividad hipotensora del Maytenus Krukovii destacándose el máximo efecto a la hora de administración arterial sistólica (238 vs. 181 mmhg), diastolica (200 vs 129 nmhg) y media (299 vs 187 mmhg); respecto a la frecuencia cardiaca Maytenus Krukovii mostró actividad bradicárdica, siendo su máximo efecto a las 3 horas de administrar el chuchuhuasi (430 vs 386 latidos por minutos). Se concluye en que Maytenus krukovii presenta acción hipotensora y cronotropa negativa.

Maytenus krukovii (chuchuhuasi), is originary from the South America Amazonian Forest, traditionally anti-inflammatory, analgesic, aphrodisiac proporties are atributed to this plant. Research reports suggest analgesic action by intermediation of opioid receptors, antipyretic effect, antiinflammatory and gastro protective actions. The presente experimental study inquited about the action of chuchuhuasi on blood pressure and cardiac frequency on conscious rats. Ten male albino rats were administered orally with 1000 mg/kg of methanolic extract of chuchuhuasi. Basal blood pressure and cardiac frequency were registared alt hour 1, 3, 4 and 24, using LE 5000 Meter Pressure. Results obtained show comparative values regarding basal values, with hipontensive activity of Maytenus krukovii. The maximum values is detected at the first hour of administration, systolic blood pressure (238 vs. 181 mmHg), diastolic (200 vs. 129 NMHG) and media (299 vs. 187 mmHg); were obtained. Redarding cardiac frequency, Maytenus krukowii showed bradychardic activity the highest effect recorded after 3 hours (430 vs. 386 beats/minute). We conclude that Maytenus krukovii has hypotensive action and negative chronotropic effects.

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

The molecular basis of familial hypercholesterolemia (FH) in three families of Spanish descent from La Habana was investigated by the candidate gene approach. The Arg3500Gln mutation of apolipoprotein B-100 was not found. Identification of low density lipoprotein receptor (LDLR) gene haplotypes segregating with FH guided the characterisation of three point mutations by automated sequencing. One, a Val408-->Met missense mutation, a founder mutation in Afrikaner FH patients, was recurrent, being associated with a distinct DNA haplotype. The other two, Glu256-->Lys and Val776-->Met missense mutations, were novel and modified highly conserved residues. These mutations were absent in normolipidemic subjects and were associated in heterozygous carriers with twice the cholesterol levels observed in non-carriers. Noticeably, cardiovascular complications were rarely observed in older heterozygotes, even in those with the Afrikaner FH-2 mutation. These findings confirm the molecular heterogeneity of LDLR gene mutations causing FH and the variability of their expression across different populations.

Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus.

We report on linkage analysis and haplotype characterization in 12 Cuban families with autosomal dominant polycystic kidney disease (ADPK) using PKD1-linked markers. They included both standard restriction fragment length polymorphisms (26.6., BLu24, and pGGG1) as well as microsatellite polymorphisms (CW2, 16AC2.5, and SM6). All of the examined families were fully informative for genetic diagnosis and no evidence of unlinked families was found. Analysis of two recombination events places PKD1 distal to the marker BLu24 and reduces the size of the region likely to contain the disease gene by approximately 300 kb. The allele frequencies of each marker were similar in the ADPKD and normal populations.