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1.
Mar Environ Res ; 168: 105307, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33984550

ABSTRACT

Kelps are canopy-forming brown seaweed sustaining critical ecosystem services in coastal habitats, including shelter, nursery grounds, and providing food resources to a myriad of associated species. This study modeled the fundamental niche of Laminaria abyssalis along the Brazilian continental margin, an endemic species of the South Atlantic, to anticipate potential distributional range shifts under two contrasting scenarios of future environmental changes (RCP2.6 and RCP8.5). The model for fundamental niche predictions considering the "present scenario" has shown a wider potential area than the realized niche (i.e., the area where the species actually occurs) along the Brazilian coast. In both future scenarios, the models have shown niche erosion on the northern portion of the Brazilian coast and niche gains towards the south. In both scenarios, L. abyssalis populations tend to shift to deeper regions of the reef. The restricted range of occurrence (33,000 km2), intense anthropic activities along these beds (e.g., trawling fisheries, oil/gas mining, or removal for agricultural purposes) acting synergically with global warming, may drive this ecosystem to collapse faster than kelp species' ability to adapt. We propose to classify L. abyssalis as Endangered - (EN) under IUCN criteria, and highlight that long-term monitoring of kelp beds is an urgent need to develop effective conservation initiatives to protect such rare and invaluable ecosystem.


Subject(s)
Kelp , Brazil , Ecosystem , Fisheries , Global Warming
3.
Methods Inf Med ; 55(1): 79-83, 2016.
Article in English | MEDLINE | ID: mdl-26640834

ABSTRACT

INTRODUCTION: This article is part of the Focus Theme of Methods of Information in Medicine on "Methodologies, Models and Algorithms for Patients Rehabilitation". OBJECTIVE: Identify eye gaze correlates of motor impairment in a virtual reality motor observation task in a study with healthy participants and stroke patients. METHODS: Participants consisted of a group of healthy subjects (N = 20) and a group of stroke survivors (N = 10). Both groups were required to observe a simple reach-and-grab and place-and-release task in a virtual environment. Additionally, healthy subjects were required to observe the task in a normal condition and a constrained movement condition. Eye movements were recorded during the observation task for later analysis. RESULTS: For healthy participants, results showed differences in gaze metrics when comparing the normal and arm-constrained conditions. Differences in gaze metrics were also found when comparing dominant and non-dominant arm for saccades and smooth pursuit events. For stroke patients, results showed longer smooth pursuit segments in action observation when observing the paretic arm, thus providing evidence that the affected circuitry may be activated for eye gaze control during observation of the simulated motor action. CONCLUSIONS: This study suggests that neural motor circuits are involved, at multiple levels, in observation of motor actions displayed in a virtual reality environment. Thus, eye tracking combined with action observation tasks in a virtual reality display can be used to monitor motor deficits derived from stroke, and consequently can also be used for rehabilitation of stroke patients.


Subject(s)
Eye Movements , Eye/anatomy & histology , Movement Disorders/diagnosis , Rehabilitation/methods , Stroke/diagnosis , Adult , Aged , Algorithms , Computer Simulation , Female , Healthy Volunteers , Humans , Male , Middle Aged , Motor Skills , Stroke Rehabilitation/methods
4.
Genet Mol Res ; 14(4): 15008-15, 2015 Nov 25.
Article in English | MEDLINE | ID: mdl-26634462

ABSTRACT

In this study, fluorescence in situ hybridization (FISH) analysis was used to determine and compare the numbers and chromosomal locations of two multigene families (rDNA and histone H3) in four Neotropical species of gomphocerine grasshoppers. FISH using the 18S rDNA probe identified a single site on the S9 chromosome of Amblytropidia sp and Cauratettix borelli, a single site on chromosome M6 of Compsacris pulcher, and two sites (chromosomes L1 and L2) in Orphulella punctata. By contrast, FISH with a 5S rDNA probe identified dispersion of this sequence in the genomes of the four species, with evidence of intraspecific variations. Amblytropidia sp had six to eight FISH signals on autosomal chromosomes, while C. pulcher exhibited a signal only on the M5 bivalent. The histone H3 gene was less variable and was restricted to a single pair in all species. The conservation of the numbers and locations of 18S rDNA and H3 genes in conjunction with data from the literature was useful for evaluating karyotype evolution in this subfamily. The variation in the number and sizes of 5S rDNA sites indicates a process of recent dispersion that might have been mediated by transposition.


Subject(s)
Grasshoppers/genetics , Histones/genetics , Animals , Chromosome Mapping , Evolution, Molecular , In Situ Hybridization, Fluorescence , Karyotype , Male , Multigene Family , RNA, Ribosomal, 18S/genetics , RNA, Ribosomal, 5S/genetics
5.
R Soc Open Sci ; 1(3): 140294, 2014 Nov.
Article in English | MEDLINE | ID: mdl-26064564

ABSTRACT

The deep West Antarctic Peninsula (WAP) shelf is characterized by intense deposition of phytodetritus during spring/summer months, while very little food material reaches the seafloor during winter. The response of the shelf benthic megafauna to this highly variable food supply is still poorly understood. In order to characterize the deposition of phytodetritus and the megabenthic community response, we deployed a seafloor time-lapse camera at approximately 590 m depth on the mid WAP shelf west of Anvers Island for 15 months. Seafloor photographs were taken at intervals of 12 or 24 h nearly continuously from 9 December 1999 (austral winter) to 20 March 2001 (summer) and analysed for phytodetritus deposition and megafaunal dynamics. Seafloor images indicated a marked seasonal arrival of greenish phytodetritus, with large interannual and seasonal variability in the coverage of depositing phytodetrital particles. The surface-deposit-feeding elasipod holothurians Protelpidia murrayi and Peniagone vignoni dominated the epibenthic megafauna throughout the year, frequently constituting more than 80% of the megafaunal abundance, attaining total densities of up to 2.4 individuals m(-2). Elasipod abundances were significantly higher in summer than winter. During summer periods of high phytodetrital flux, Pr. murrayi produced faecal casts at higher rates, indicating intensified population-level feeding activity. In March-June 2000, faecal casts lasted longest, suggesting lower horizontal bioturbation activity during autumn-winter. Our data indicate that the Pr. murrayi population increases its feeding rates in response to increasing amounts and/or lability of organic matter on the sediment surface. Assuming that this species feeds on the top millimetre of the sediment, we estimate that, during periods of high phytodetrital flux, the Pr. murrayi population reworks one square metre of sediment surface in approximately 287 days. We suggest that Pr. murrayi is an important species for organic-carbon recycling on the deep WAP shelf, controlling the availability of deposited labile phytodetritus to the broader shelf benthic community.

6.
R Soc Open Sci ; 1(4): 140464, 2014 Dec.
Article in English | MEDLINE | ID: mdl-26068892

ABSTRACT

[This corrects the article DOI: 10.1098/rsos.140294.].

7.
Avian Dis ; 52(4): 567-71, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19166046

ABSTRACT

Young poultry are very susceptible to Salmonella Enteritidis (SE) infections because of the absence of complete intestinal flora colonization and an immature immune system. This study evaluated the role of passive immunity on the resistance of young birds against early infections caused by SE. The progeny of broiler breeders vaccinated with an oil-emulsion bacterin was compared to the progeny of unvaccinated birds. Efficacy was determined by challenging birds at 1 and 14 days of age with SE Nal Spc strain, phage type 4. After challenge at 1 day of age, the progeny of vaccinated birds presented a significantly lower number (log10) of SE Nal Spc reisolation (P < 0.05) in liver (2.21), spleen (2.31), and cecal contents (2.85) compared with control groups (2.76, 3.02, and 6.03, respectively). The examination of the internal organs, 3 days after infection, revealed that 28% of the birds (7/25) from vaccinated breeders were positive, whereas 100% (25/25) of the chicks derived from unvaccinated birds were positive. Birds challenged at 14 days of age presented a lower number of positive samples compared with those challenged at 1 day of age, and the progeny of vaccinated birds presented statistically lower numbers (log10) of colony-forming units/ml of SE Nal Spc only in the cecal contents compared with nonvaccinated breeder progeny (2.11 vs. 2.94). Age seems to influence the susceptibility of birds to SE infections: in control groups, the number of positive birds at 14 days of age (9/25) was lower when compared with the group infected at 1 day of age (25/25). The number of positive fecal samples of the progeny of vaccinated birds was significantly lower (36) than those of the control group (108) after challenge at 1 day of age. Unchallenged progeny of vaccinated birds presented passive antibodies detectable by enzyme-linked immunosorbent assay (ELISA) up to 21 days of age. On the other hand, antibodies of the control group were detected by ELISA 14 days after challenge. These results show a significant contribution of breeder vaccination by increasing the resistance of the progeny against early SE infections. However, the bacteria were not completely eliminated, suggesting that additional procedures are needed to effectively control SE infections.


Subject(s)
Chickens , Immunity, Maternally-Acquired , Poultry Diseases/immunology , Salmonella Infections, Animal/immunology , Salmonella Vaccines/immunology , Salmonella enteritidis/immunology , Animals , Antibodies, Bacterial/blood , Poultry Diseases/microbiology , Salmonella Infections, Animal/microbiology , Time Factors
8.
Rev. bras. mastologia ; 16(1): 35-37, mar. 2006. ilus
Article in Portuguese | LILACS | ID: lil-558623

ABSTRACT

Os autores apresentam caso raro de osteossarcoma extra-esquelético primário de mama, fazendo breve revisão sobre o assunto.


The authors present a rare case of osteossarcoma primary of the breast and brief revision about thi theme.


Subject(s)
Humans , Female , Middle Aged , Breast Neoplasms/surgery , Osteosarcoma , Lymph Node Excision
9.
Rev. clín. esp. (Ed. impr.) ; 205(12): 610-620, dic. 2005. tab
Article in Es | IBECS | ID: ibc-043026

ABSTRACT

La diabetes mellitus tipo 2 se ha convertido en una verdadera epidemia y se espera un crecimiento importante en las próximas décadas. Se podría esperar, por tanto, que el impacto que ello puede tener sobre la incidencia y prevalencia de morbimortalidad cardiovascular sea de magnitudes considerables. El control metabólico (glucémico y lipídico) adecuado de los pacientes que la padecen, comenzando con programas de dieta y ejercicio y posteriormente con medidas farmacológicas, ha demostrado disminuir el riesgo de complicaciones. No obstante, diversos estudios han evidenciado que, independientemente del tratamiento utilizado, el control metabólico empeora con el tiempo. En los últimos años se ha incorporado una nueva familia de fármacos al arsenal terapéutico para tratar la diabetes mellitus tipo 2, las tiazolidinodionas o glitazonas, que aportan aspectos diferenciales respecto a otros fármacos. En este artículo se revisan los efectos metabólicos y sistémicos de pioglitazona, que recientemente ha demostrado en el estudio PROactive un efecto positivo en la prevención secundaria de episodios cardiovasculares


Type 2 diabetes mellitus has become a true epidemic and significant growth is expected in the next decades. Thus it could be expected that the impact it may have on the incidence and prevalence of cardiovascular morbidity-mortality will have considerable magnitudes. It has been demonstrated that adequate metabolic control (glycemic and lipid) of these patients, beginning with diet and exercise programs and then with drug measures, decreases the risk of complications. However, several studies have shown that metabolic control deteriorates over time regardless of the treatment used. In recent years, a new drug family has been incorporated into the therapeutic armamentarium to treat type 2 diabetes mellitus. These are thiazolidinediones or glitazones, which have differential aspects regarding other drugs. In this article, the metabolic and systemic effects of pioglitazone, that have recently demonstrated a positive effect in the secondary prevention of cardiovascular episodes in the PROactive study have been reviewed


Subject(s)
Humans , Diabetes Mellitus/drug therapy , Hypoglycemic Agents/pharmacology , Cardiovascular Diseases/etiology , Cardiovascular Diseases/prevention & control , Diabetic Angiopathies/prevention & control , Hypoglycemic Agents/therapeutic use , Thiazolidinediones/therapeutic use
10.
Rev Clin Esp ; 205(12): 610-20, 2005 Dec.
Article in Spanish | MEDLINE | ID: mdl-16527183

ABSTRACT

Type 2 diabetes mellitus has become a true epidemic and significant growth is expected in the next decades. Thus it could be expected that the impact it may have on the incidence and prevalence of cardiovascular morbidity-mortality will have considerable magnitudes. It has been demonstrated that adequate metabolic control (glycemic and lipid) of these patients, beginning with diet and exercise programs and then with drug measures, decreases the risk of complications. However, several studies have shown that metabolic control deteriorates over time regardless of the treatment used. In recent years, a new drug family has been incorporated into the therapeutic armamentarium to treat type 2 diabetes mellitus. These are thiazolidinediones or glitazones, which have differential aspects regarding other drugs. In this article, the metabolic and systemic effects of pioglitazone, that have recently demonstrated a positive effect in the secondary prevention of cardiovascular episodes in the PROactive study have been reviewed.


Subject(s)
Diabetes Mellitus, Type 2/drug therapy , Hypoglycemic Agents/pharmacology , Thiazolidinediones/pharmacology , Cardiovascular Diseases/etiology , Cardiovascular Diseases/prevention & control , Diabetes Mellitus, Type 2/complications , Diabetic Angiopathies/prevention & control , Humans , Hypoglycemic Agents/therapeutic use , Pioglitazone , Thiazolidinediones/therapeutic use
11.
Braz J Biol ; 64(2): 237-42, 2004 May.
Article in English | MEDLINE | ID: mdl-15462296

ABSTRACT

Biological control has been reducing the use of chemical products against insect pests, especially predatory Pentatomidae. Species of this group can present high variations in their life cycle as a result of their diet. Thus, the objective of this research was to study nymph development and reproduction of Podisus distinctus (Stäl, 1860) (Heteroptera: Pentatomidae) fed on Bombyx mori L., 1758 (Lepidoptera: Bombycidae) larvae (T1), compared to those fed on Tenebrio molitor L., 1758 (Coleoptera: Tenebrionidae) (T2) and Musca domestica L., 1758 (Diptera: Muscidae) larvae (T3) at a temperature of 25 +/- 0.5 degrees C, relative humidity of 70 +/- 2%, and photophase of 12 h. Predators fed on B. mori showed duration of the nymph phase (18.68 +/- 1.02) similar to those fed on T. molitor (18.32 +/- 1.49). Pre-oviposition and oviposition periods and number of egg masses, besides eggs and nymphs per female, were higher with B. mori (5.83 +/- 2.02; 15.00 +/- 7.40; 8.42 +/- 1.84; 296.69 +/- 154.75; and 228.55 +/- 141.04, respectively) while longevity of males and females of P. distinctus was 25.76 +/- 16.15 and 35.00 +/- 16.15 days with T. molitor, and 20.57 +/- 13.60 and 23.46 +/- 12.35 days with B. mori, respectively.


Subject(s)
Bombyx , Heteroptera/physiology , Animals , Female , Heteroptera/growth & development , Larva , Longevity , Male , Nymph/growth & development , Pest Control, Biological/methods , Predatory Behavior , Reproduction/physiology
12.
Braz. j. biol ; 64(2): 237-242, May 2004. tab, graf
Article in English | LILACS | ID: lil-365637

ABSTRACT

O controle biológico vem reduzindo o uso de produtos químicos no combate a insetos pragas, com destaque para pentatomídeos predadores, os quais apresentam variaçäes em seu ciclo de vida, principalmente em função do regime alimentar a que são submetidos. Assim, o objetivo deste trabalho foi estudar o desenvolvimento ninfal e a produtividade de Podisus distinctus (Stãl, 1860) (Heteroptera: Pentatomidae) alimentado com larvas de Bombyx mori L., 1758 (Lepidoptera: Bombycidae) (T1), comparado com larvas de Tenebrio molitor L., 1758 (Coleoptera: Tenebrionidae) (T2) ou Musca domestica L., 1758 (Diptera: Muscidae) (T3) à temperatura de 25 ñ 0,5§C, umidade relativa de 70 ñ 2% e fotoperíodo de 12 h. P. distinctus, alimentado com B. mori, apresentou semelhante duração da fase ninfal (18,68 ñ 1,02) em relação à alimentação com T. molitor (18,32 ñ 1,49). Os períodos de pré-oviposição e oviposição e os números de ovos postos e de ninfas por fêmea foram maiores com B. mori (5,83 ñ 2,02; 15,00 ñ 7,40; 8,42 ñ 1,84; 296,69 ñ 154,75; e 228,55 ñ 141,04, respectivamente), enquanto a longevidade de fêmeas e machos foi de 25,76 ñ 16,15 e 35,00 ñ 16,15 dias com T. molitor e de 20,57 ñ 13,60 e 23,46 ñ 12,35 dias com B. mori, respectivamente.


Subject(s)
Animals , Male , Female , Diet , Lepidoptera , Longevity , Heteroptera , Larva , Nymph , Predatory Behavior , Reproduction
13.
Rev Esp Salud Publica ; 75(4): 353-60, 2001.
Article in Spanish | MEDLINE | ID: mdl-11693073

ABSTRACT

BACKGROUND: Amphotericin B is the treatment of choice for systemic fungal infections. Among the different AB formulations available, the lipid forms appear to have a better profile of reliability, however, their cost is noticeably higher. In 1999 (pre-initiative period) an evaluation of the quality of the prescription of these preparations was made in our hospital, which revealed that they were not being used to best advantage and were responsible for generating a significant unnecessary expenditure. As a result of this, an information initiative was implemented with respect to the prescribing physicians for the purpose of reducing the inappropriate use of AB. METHOD: The quality of 100 prescriptions was evaluated prospectively, according to the standards of use of Amphotericin B established in the hospital. Following each evaluation, a pharmacologist personally handed over to each prescribing physician a set of rules governing the use of the Amphotericin B, discussing the indication and recommending the best alternative in each case. In order to measure the impact of this initiative, the appropriateness of the prescriptions during this period was compared with the pre-initiative period. RESULTS: The percentage of inappropriate prescriptions dropped from 58% to 21% following the implementation of the initiative. Likewise, a 33-million-peseta reduction in the total expenditure was achieved in 15 months as well as a savings of 24 million in inappropriate prescriptions. CONCLUSIONS: The information initiative improved the quality of the prescribing of preparations of Amphotericin B associated with lipids and considerably reduced the unnecessary expense associated with Amphotericin B misuse in our hospital.


Subject(s)
Amphotericin B/therapeutic use , Antifungal Agents/therapeutic use , Drug Prescriptions/statistics & numerical data , Hospitals, Urban , Humans , Prospective Studies , Spain
14.
Neuropediatrics ; 32(3): 162-4, 2001 Jun.
Article in English | MEDLINE | ID: mdl-11521215

ABSTRACT

Rett syndrome (RTT) is an X-linked condition which affects almost exclusively females. Here we report the first case of RTT syndrome in a boy with an XXY chromosomal constitution. Mutation analysis of the MECP2 gene in the affected patient revealed a 423 C-->G substitution in exon 4, resulting in a new stop codon (Y141 X). This change was not present in both his parents or in his older sister. Taking into account the incidence of both RTT syndrome as well as of Klinefelter syndrome, the probability for the simultaneous occurrence of these two events is very low (about approximately 1 in 10 to 15,000,000 births). However, the recent identification of mutations in the MECP2 gene in affected males indicates that screening of the MECP2 gene should be considered also in males with severe mental retardation (MR) in whom the most common forms of MR have been excluded.


Subject(s)
Chromosomal Proteins, Non-Histone , DNA-Binding Proteins/genetics , Klinefelter Syndrome/genetics , Mutation/genetics , Repressor Proteins , Rett Syndrome/genetics , Child, Preschool , DNA Mutational Analysis , Exons , Genetic Testing , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Klinefelter Syndrome/diagnosis , Male , Methyl-CpG-Binding Protein 2 , Molecular Sequence Data , Rett Syndrome/diagnosis
15.
Am J Med Genet ; 99(4): 303-7, 2001 Apr 01.
Article in English | MEDLINE | ID: mdl-11251997

ABSTRACT

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders usually with autosomal recessive (AR) inheritance and, less often, displaying autosomal dominant (AD) inheritance. Mutations in the caveolin-3 gene (CAV-3) associated with a reduction of protein expression cause AD-LGMD1C muscular dystrophy. Based on a previous study in the American and Brazilian population, it has been suggested that CAV-3 mutations might also cause AR-LGMD. Here we report the analysis of the CAV-3 gene in 61 additional Brazilian LGMD patients and 100 additional Brazilian normal controls. Two rare G55S and C71W missense changes previously detected only in LGMD patients (and not detected in 100 normal controls from the American population) were now found in normal Brazilian controls. In addition, we have identified a novel R125H missense change in one LGMD female patient that was also found in two of her unaffected siblings. These observations, together with the normal immunofluorescence caveolin pattern in the muscle biopsy from two patients with the G55W and R125H changes in the CAV-3 gene suggest that the G55S, C71W, and R125H polymorphisms, on their own, are not sufficient to produce the pathology.


Subject(s)
Caveolins/genetics , Muscular Dystrophies/genetics , Adult , Brazil/epidemiology , Case-Control Studies , Caveolin 3 , DNA Mutational Analysis , Female , Gene Frequency , Humans , Immunohistochemistry , Male , Muscle Proteins/genetics , Muscles/chemistry , Muscles/pathology , Muscular Dystrophies/etiology , Muscular Dystrophies/pathology , Mutation, Missense , Point Mutation , Polymorphism, Genetic , Prenatal Diagnosis
16.
Genet Test ; 4(1): 69-74, 2000.
Article in English | MEDLINE | ID: mdl-10794365

ABSTRACT

We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of CFTR variants of T-tract length of intron 8 (IVS8 Tn) was also investigated. This analysis enabled the detection of 232/320 CF mutations (72.2%) and complete genotyping of 61% of the patients. The deltaF508 mutation was found in 48.4% of the alleles. Another fifteen mutations (previously reported) were detected: G542X, R1162X, N1303K, R334W, W1282X, G58E, L206W, R553X, 621+1G-->T, V232D, 1717-1G-->A, 2347 delG, R851L, 2789+5G-->A, and W1089X. Five novel mutations were identified, V201M (exon 6a), Y275X (exon 6b), 2686 insT (exon 14a), 3171 delC (exon 17a), and 3617 delGA (exon 19). These results contribute to the molecular characterization of CF in the Brazilian population. In addition, the identification of the novel mutation Y275X allowed prenatal diagnosis in a high-risk fetus.


Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Mutation/genetics , White People/genetics , Alleles , Black People/genetics , Brazil/epidemiology , Chromosomes/genetics , Cystic Fibrosis/diagnosis , Cystic Fibrosis/ethnology , DNA Mutational Analysis , Exons/genetics , Female , Gene Frequency , Genetic Testing , Genotype , Heteroduplex Analysis , Humans , Introns/genetics , Male , Polymorphism, Genetic/genetics , Prenatal Diagnosis , Racial Groups/genetics
18.
Nucleic Acids Res ; 27(18): e22, 1999 Sep 15.
Article in English | MEDLINE | ID: mdl-10471752

ABSTRACT

We have developed a new and simple method for quantitatively analyzing global gene expression profiles from cells or tissues. The process, called TALEST, or tandem arrayed ligation of expressed sequence tags, employs an oligonucleotide adapter containing a type IIs restriction enzyme site to facilitate the generation of short (16 bp) ESTs of fixed position in the mRNA. These ESTs are flanked by GC-clamped punctuation sequences which render them resistant to thermal denaturation, allowing their concatenation into long arrays and subsequent recognition and analysis by high-throughput DNA sequencing. A major advantage of the TALEST technique is the avoidance of PCR in all stages of the process and hence the attendant sequence-specific amplification biases that are inherent in other gene expression profiling methods such as SAGE, Differential Display, AFLP, etc. which rely on PCR.


Subject(s)
Expressed Sequence Tags , Gene Expression , Adult , DNA, Complementary , Escherichia coli , Genome, Human , Humans , Lung/metabolism , Polymerase Chain Reaction , RNA, Messenger/genetics , Software
19.
Am J Med Genet ; 76(4): 288-90, 1998 Apr 01.
Article in English | MEDLINE | ID: mdl-9545091

ABSTRACT

A total of 540 individuals with clinical signs suggestive of cystic fibrosis (CF) was studied. The sweat chloride was measured and the DF508, G542X, R553X, and W1282X mutations of the CF gene were screened by polymerase chain reaction (PCR). With this approach the diagnosis of CF was confirmed in 12 children, while 7 additional cases, who are heterozygous for the DF508 mutation, have had minor clinical signs. The frequency of the DF508 allele among the 540 individuals was approximately 3%. The mean age of children diagnosed with CF was 1.81 years, which is significantly earlier than in other studies of the Brazilian population. We also demonstrated that this approach has important clinical implications for earlier and adequate treatment, which was shown to be fundamental for increasing significantly the quality of life and life expectancy. This is particularly true in countries such as Brazil where most CF cases remain undiagnosed, mainly in families of low socio-economical status.


Subject(s)
Chlorides/analysis , Cystic Fibrosis/diagnosis , DNA Mutational Analysis , Sweat/chemistry , Age Factors , Brazil/epidemiology , Child , Child, Preschool , Cystic Fibrosis/epidemiology , Cystic Fibrosis/genetics , Female , Gene Frequency , Genotype , Heterozygote , Humans , Infant , Male , Polymerase Chain Reaction
20.
DST j. bras. doenças sex. transm ; 8(4): 14-8, dez. 1996. ilus
Article in Portuguese | LILACS | ID: lil-209359

ABSTRACT

Novos ribonucleosídeos derivados dos sistemas dipirazolo-piridina foram preparados e avaliados quanto à atividade polimerásica das enzimas transcriptase reversa (RT) do vírus HIV-1 e das DNA polimerases humanas alfa e epsilon. Os derivados 1b e 1d inibiram a atividade da transcriptase reversa em concentraçöes de micromolares. Entretanto, as mesmas substâncias näo foram capazes de inibir a atividade polimerase das enzimas DNA-polimerase humana alfa e epsilon.


Subject(s)
DNA Polymerase II/antagonists & inhibitors , DNA Polymerase I/antagonists & inhibitors , HIV-1/enzymology , Pyrazoles/pharmacology , Pyridines/pharmacology , Reverse Transcriptase Inhibitors , Ribonucleosides/pharmacology
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