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BACKGROUND: Nellore cattle (Bos indicus) are well-known for their adaptation to warm and humid environments. Hair length and coat color may impact heat tolerance. The Nellore breed has been strongly selected for white coat, but bulls generally exhibit darker hair ranging from light grey to black on the head, neck, hump, and knees. Given the potential contribution of coat color variation to the adaptation of cattle populations to tropical and sub-tropical environments, our aim was to map positional and functional candidate genetic variants associated with darkness of hair coat (DHC) in Nellore bulls. RESULTS: We performed a genome-wide association study (GWAS) for DHC using data from 432 Nellore bulls that were genotyped for more than 777 k single nucleotide polymorphism (SNP) markers. A single major association signal was detected in the vicinity of the agouti signaling protein gene (ASIP). The analysis of whole-genome sequence (WGS) data from 21 bulls revealed functional variants that are associated with DHC, including a structural rearrangement involving ASIP (ASIP-SV1). We further characterized this structural variant using Oxford Nanopore sequencing data from 13 Australian Brahman heifers, which share ancestry with Nellore cattle; we found that this variant originates from a 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons. CONCLUSIONS: Our results indicate that the variant ASIP sequence causes darker coat pigmentation on specific parts of the body, most likely through a decreased expression of ASIP and consequently an increased production of eumelanin.
Assuntos
Proteína Agouti Sinalizadora/genética , Bovinos/genética , Pigmentação/genética , Polimorfismo Genético , Pelo Animal/metabolismo , Animais , Elementos de DNA Transponíveis , Mutação INDEL , Melaninas/genética , Melaninas/metabolismoRESUMO
El documento contiene objetivo, materiales y métodos, resultados y conclusiones.
Assuntos
Pacientes , Risco , Mortalidade , Fragilidade , Métodos , Idoso FragilizadoRESUMO
RESUMEN Objetivo Medir el riesgo de mortalidad con el índice de fragilidad, el índice de Charlson y el Short Physical Performance Battery (SPPB) en pacientes adultos mayores. Los tres esquemas son útiles para la evaluación y posterior enfoque del paciente geriátrico. Materiales y métodos Estudio observacional, transversal, analítico, secundario a una base de datos, con un muestreo no probabilístico y de tipo por conveniencia. La base de datos se obtuvo del estudio original "Prevalencia y factores asociados con la fragilidad en adultos mayores peruanos", realizado entre los años 2010 y 2015, en el Servicio Geriátrico del Centro Médico Naval "Cirujano Mayor Santiago Távara". En total, se incluyeron 1897 participantes mayores de 60 años. Resultados Los valores de fragilidad encontrados fueron 51,33 % (según el índice de fragilidad), 26,16 % (de acuerdo al SPPB), y 73,47 % (al aplicar el índice de Charlston). La frecuencia de mortalidad en el estudio fue del 10,13 %. Conclusiones Los tres índices comparados en este estudio presentaron significancia para predecir fragilidad. Sin embargo, cuando se realiza el modelo ajustado por sexo, se demuestra que el SPPB y el Índice de Charlson presentan una mayor significancia estadística.
ABSTRACT Objective To quantify the risk of mortality using the Frailty Index, the Charlson Comorbidity Index and the Short Physical Performance Battery (SPPB) in elderly patients. Such three instruments are useful to assess and subsequently manage this group of patients. Materials and methods An observational, cross-sectional and analytical study conducted from a secondary database analysis with a non-probability, convenience sampling. The database was collected from the original study "Prevalence and factors associated with frailty in Peruvian older adults" carried out between 2010 and 2015 in the Geriatrics Department of the Centro Médico Naval "Cirujano Mayor Santiago Távara." A total of 1,897 participants over 60 years old were included. Results Fragility values accounted for 51.33 %, 26.16 % and 73.47 %, according to the Frailty Index, the SPPB and the Charlson Comorbidity Index, respectively. The mortality rate in the study was 10.13 %. Conclusions The three instruments compared in this study were significant to predict fragility. However, when a sex- adjusted analysis was performed, the SPPB and the Charlson Comorbidity Index showed greater statistical significance.
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BACKGROUND: Misassembly signatures, created by shuffling the order of sequences while assembling a genome, can be detected by the unexpected behavior of marker linkage disequilibrium (LD) decay. We developed a heuristic process to identify misassembly signatures, applied it to the bovine reference genome assembly (UMDv3.1) and presented the consequences of misassemblies in two case studies. RESULTS: We identified 2,906 single nucleotide polymorphism (SNP) markers presenting unexpected LD decay behavior in 626 putative misassembled contigs, which comprised less than 1 % of the whole genome. Although this represents a small fraction of the reference sequence, these poorly assembled segments can lead to severe implications to local genome context. For instance, we showed that one of the misassembled regions mapped to the POLL locus, which affected the annotation of positional candidate genes in a GWAS case study for polledness in Nellore (Bos indicus beef cattle). Additionally, we found that poorly performing markers in imputation mapped to putative misassembled regions, and that correction of marker positions based on LD was capable to recover imputation accuracy. CONCLUSIONS: This heuristic approach can be useful to cross validate reference assemblies and to filter out markers located at low confidence genomic regions before conducting downstream analyses.
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Mapeamento Cromossômico/métodos , Biologia Computacional/métodos , Desequilíbrio de Ligação , Animais , Bovinos , Genoma , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Análise de Sequência de DNA/métodosRESUMO
Two complementary methods, namely Multi-Trait Meta-Analysis and Versatile Gene-Based Test for Genome-wide Association Studies (VEGAS), were used to identify putative pleiotropic genes affecting carcass traits in Bos indicus (Nellore) cattle. The genotypic data comprised over 777,000 single-nucleotide polymorphism markers scored in 995 bulls, and the phenotypic data included deregressed breeding values (dEBV) for weight measurements at birth, weaning and yearling, as well visual scores taken at weaning and yearling for carcass finishing precocity, conformation and muscling. Both analyses pointed to the pleomorphic adenoma gene 1 (PLAG1) as a major pleiotropic gene. VEGAS analysis revealed 224 additional candidates. From these, 57 participated, together with PLAG1, in a network involved in the modulation of the function and expression of IGF1 (insulin like growth factor 1), IGF2 (insulin like growth factor 2), GH1 (growth hormone 1), IGF1R (insulin like growth factor 1 receptor) and GHR (growth hormone receptor), suggesting that those pleiotropic genes operate as satellite regulators of the growth pathway.
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Bovinos/crescimento & desenvolvimento , Bovinos/genética , Animais , Peso Corporal/genética , Cruzamento , Feminino , Estudo de Associação Genômica Ampla/veterinária , Masculino , Polimorfismo de Nucleotídeo ÚnicoRESUMO
We conducted a genome-wide scan for visceral leishmaniasis in mixed-breed dogs from a highly endemic area in Brazil using 149,648 single nucleotide polymorphism (SNP) markers genotyped in 20 cases and 28 controls. Using a mixed model approach, we found two candidate loci on canine autosomes 1 and 2. The positional association on chromosome 2 mapped to a predicted DNAse sensitive site in CD14+ monocytes that serve as a cis-regulatory element for the expression of interleukin alpha receptors 2 (IL2RA) and 15 (IL15RA). Both interleukins were previously found to lead to protective T helper 1 cell (Th1) response against Leishmania spp. in humans and mice. The associated marker on chromosome 1 was located between two predicted transcription factor binding sites regulating the expression of the transducin-like enhancer of split 1 gene (TLE1), an important player in Notch signaling. This pathway is critical for macrophage activity and CD4+ T cell differentiation into Th1 and T helper 2. Together, these findings suggest that the human and mouse model for protective response against Leishmania spp., which involves Th1 and macrophage modulation by interleukins 2, 15, gamma interferon and Notch signaling, may also hold for the canine model.
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Estudo de Associação Genômica Ampla , Subunidade alfa de Receptor de Interleucina-2/genética , Leishmaniose Visceral/genética , Receptores de Interleucina-15/genética , Animais , Brasil , Linfócitos T CD4-Positivos/metabolismo , Diferenciação Celular/genética , Proteínas Correpressoras , Cães , Genótipo , Humanos , Leishmania infantum/patogenicidade , Leishmaniose Visceral/patologia , Leishmaniose Visceral/veterinária , Polimorfismo de Nucleotídeo Único , Receptores Notch/genética , Proteínas Repressoras/genética , Transdução de Sinais , Linfócitos T Auxiliares-Indutores/metabolismo , Linfócitos T Auxiliares-Indutores/patologiaRESUMO
The bovine species have witnessed and played a major role in the drastic socio-economical changes that shaped our culture over the last 10,000 years. During this journey, cattle "hitchhiked" on human development and colonized the world, facing strong selective pressures such as dramatic environmental changes and disease challenge. Consequently, hundreds of specialized cattle breeds emerged and spread around the globe, making up a rich spectrum of genomic resources. Their DNA still carry the scars left from adapting to this wide range of conditions, and we are now empowered with data and analytical tools to track the milestones of past selection in their genomes. In this review paper, we provide a summary of the reconstructed demographic events that shaped cattle diversity, offer a critical synthesis of popular methodologies applied to the search for signatures of selection (SS) in genomic data, and give examples of recent SS studies in cattle. Then, we outline the potential and challenges of the application of SS analysis in cattle, and discuss the future directions in this field.
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The use of relatively low numbers of sires in cattle breeding programs, particularly on those for carcass and weight traits in Nellore beef cattle (Bos indicus) in Brazil, has always raised concerns about inbreeding, which affects conservation of genetic resources and sustainability of this breed. Here, we investigated the distribution of autozygosity levels based on runs of homozygosity (ROH) in a sample of 1,278 Nellore cows, genotyped for over 777,000 SNPs. We found ROH segments larger than 10 Mb in over 70% of the samples, representing signatures most likely related to the recent massive use of few sires. However, the average genome coverage by ROH (>1 Mb) was lower than previously reported for other cattle breeds (4.58%). In spite of 99.98% of the SNPs being included within a ROH in at least one individual, only 19.37% of the markers were encompassed by common ROH, suggesting that the ongoing selection for weight, carcass and reproductive traits in this population is too recent to have produced selection signatures in the form of ROH. Three short-range highly prevalent ROH autosomal hotspots (occurring in over 50% of the samples) were observed, indicating candidate regions most likely under selection since before the foundation of Brazilian Nellore cattle. The putative signatures of selection on chromosomes 4, 7, and 12 may be involved in resistance to infectious diseases and fertility, and should be subject of future investigation.
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BACKGROUND: Feed intake plays an important economic role in beef cattle, and is related with feed efficiency, weight gain and carcass traits. However, the phenotypes collected for dry matter intake and feed efficiency are scarce when compared with other measures such as weight gain and carcass traits. The use of genomic information can improve the power of inference of studies on these measures, identifying genomic regions that affect these phenotypes. This work performed the genome-wide association study (GWAS) for dry matter intake (DMI) and residual feed intake (RFI) of 720 Nellore cattle (Bos taurus indicus). RESULTS: In general, no genomic region extremely associated with both phenotypic traits was observed, as expected for the variables that have their regulation controlled by many genes. Three SNPs surpassed the threshold for the Bonferroni multiple test for DMI and two SNPs for RFI. These markers are located on chromosomes 4, 8, 14 and 21 in regions near genes regulating appetite and ion transport and close to important QTL as previously reported to RFI and DMI, thus corroborating the literature that points these two processes as important in the physiological regulation of intake and feed efficiency. CONCLUSIONS: This study showed the first GWAS of DMI to identify genomic regions associated with feed intake and efficiency in Nellore cattle. Some genes and QTLs previously described for DMI and RFI, in other subspecies (Bos taurus taurus), that influences these phenotypes are confirmed in this study.
Assuntos
Ingestão de Alimentos/genética , Ração Animal , Animais , Apetite/genética , Peso Corporal , Bovinos , Ingestão de Alimentos/fisiologia , Estudos de Associação Genética , Genótipo , Transporte de Íons/genética , Masculino , Carne , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Aumento de PesoRESUMO
BACKGROUND: Birth weight (BW) is an economically important trait in beef cattle, and is associated with growth- and stature-related traits and calving difficulty. One region of the cattle genome, located on Bos primigenius taurus chromosome 14 (BTA14), has been previously shown to be associated with stature by multiple independent studies, and contains orthologous genes affecting human height. A genome-wide association study (GWAS) for BW in Brazilian Nellore cattle (Bos primigenius indicus) was performed using estimated breeding values (EBVs) of 654 progeny-tested bulls genotyped for over 777,000 single nucleotide polymorphisms (SNPs). RESULTS: The most significant SNP (rs133012258, PGC = 1.34 × 10-9), located at BTA14:25376827, explained 4.62% of the variance in BW EBVs. The surrounding 1 Mb region presented high identity with human, pig and mouse autosomes 8, 4 and 4, respectively, and contains the orthologous height genes PLAG1, CHCHD7, MOS, RPS20, LYN, RDHE2 (SDR16C5) and PENK. The region also overlapped 28 quantitative trait loci (QTLs) previously reported in literature by linkage mapping studies in cattle, including QTLs for birth weight, mature height, carcass weight, stature, pre-weaning average daily gain, calving ease, and gestation length. CONCLUSIONS: This study presents the first GWAS applying a high-density SNP panel to identify putative chromosome regions affecting birth weight in Nellore cattle. These results suggest that the QTLs on BTA14 associated with body size in taurine cattle (Bos primigenius taurus) also affect birth weight and size in zebu cattle (Bos primigenius indicus).
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Estatura/genética , Bovinos/genética , Estudo de Associação Genômica Ampla , Animais , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary myotonia in Murrah buffalo. Clinical and laboratory evaluations were performed on affected and normal animals. CLCN1 cDNA and the relevant genomic region from normal and affected animals were sequenced. The affected animals exhibited muscle hypertrophy and stiffness. Myotonic discharges were observed during EMG, and dystrophic changes were not present in skeletal muscle biopsies; the last 43 nucleotides of exon-3 of the CLCN1 mRNA were deleted. Cloning of the genomic fragment revealed that the exclusion of this exonic sequence was caused by aberrant splicing, which was associated with the presence of a synonymous SNP in exon-3 (c.396C>T). The mutant allele triggered the efficient use of an ectopic 5' splice donor site located at nucleotides 90-91 of exon-3. The predicted impact of this aberrant splicing event is the alteration of the CLCN1 translational reading frame, which results in the incorporation of 24 unrelated amino acids followed by a premature stop codon.
Assuntos
Búfalos/genética , Canais de Cloreto/genética , Músculo Esquelético/patologia , Mutação , Miotonia Congênita/veterinária , Alelos , Animais , Búfalos/metabolismo , Canais de Cloreto/metabolismo , Eletromiografia , Éxons , Feminino , Masculino , Músculo Esquelético/metabolismo , Miotonia Congênita/genética , Miotonia Congênita/patologia , Linhagem , Polimorfismo de Nucleotídeo ÚnicoAssuntos
Doenças Autoimunes/etiologia , Inflamação/etiologia , Miosite/etiologia , Fibrose Pulmonar/etiologia , Adjuvantes Imunológicos/efeitos adversos , Doenças Autoimunes/imunologia , Implantes de Mama/efeitos adversos , Feminino , Humanos , Inflamação/imunologia , Pessoa de Meia-Idade , Miosite/imunologia , Falha de Prótese , Fibrose Pulmonar/imunologia , Ruptura , Géis de Silicone/efeitos adversos , SíndromeRESUMO
Este estudo teve como objetivo avaliar o limiar de detecção da técnica de PCR multiplex fluorescente aliada a eletroforese capilar na detecção de agentes infecciosos em amostras de sêmen experimentalmente contaminadas com concentrações decrescentes das bactérias Brucella abortus, Leptospira interrogans sorovar pomona, Campylobacter fetus e Haemophilus somnus. Amostras de sêmen bovino foram experimentalmente contaminadas com concentrações decrescentes de bactérias obtidas através de diluições seriadas na base 10 de modo a obter-se amostras contendo desde 1 vez até 10-7 bactérias/mL a partir da concentração inicial de Leptospira pomona, Brucella abortus, Campylobacter fetus e Haemophilus somnus. As diluições foram efetuadas individualmente para cada bactéria, bem como nas diferentes concentrações necessárias para a padronização do teste de multiplex PCR. As extrações de DNA de todas as soluções contendo espermatozóides e bactérias analisadas no presente estudo foram realizadas segundo protocolo descrito por Heinemann et al. (2000). Os produtos de PCR multiplex foram avaliados por eletroforese em gel de poliacrilamida 8% e separação eletroforética por sistema capilar em equipamento automático de análise de fragmentos de DNA MegaBace. Observou-se a amplificação de fragmentos de 193pb, 330pb, 400pb e 415pb a partir do DNA de B. abortus, L. pomona, H. somnus, C. fetus, respectivamente. Na análise por eletroforese capilar de produtos da PCR multiplex do DNA para detecção simultânea dos quatro patógenos observou-se a sinal de positividade até a diluição de 10-3 bactérias/mL vezes da concentração inicial da solução estoque de cada bactéria. A técnica de PCR multiplex aliada à eletroforese capilar foi usada pela primeira vez para o diagnóstico direto de quatro bactérias patogênicas no sêmen, demonstrando ser um método rápido na detecção de bactérias causadoras de doenças reprodutivas.
This study aimed to evaluate the threshold of detection of fluorescent multiplex PCR coupled with capillary electrophoresis for detection of infectious agents in semen samples from experimentally infected with decreasing concentrations of the bacteria Brucella abortus, Leptospira interrogans serovar pomona, Campylobacter fetus and Haemophilus somnus. Samples of bovine semen were experimentally infected with decreasing concentrations of bacteria obtained from serial dilutions in the base 10 so as to obtain samples containing a long time until 10-7 bacteria/mL from the initial concentration of Lepstospira pomona, Brucella abortus, Haemophilus somnus and Campylobacter fetus. The dilutions were made individually for each bacterium, as well as in different concentrations needed to standardize the multiplex PCR test. DNA extractions of all solutions containing sperm and bacteria analyzed in this study were performed according to protocol described by Heinemann et al. (2000). The multiplex PCR products were analyzed by electrophoresis on 8% polyacrylamide gel and capillary electrophoretic separation system for automated equipment in the analysis of DNA fragments MegaBACE. We observed amplification of fragments of 193pb, 330pb, 415pb and 400bp from the DNA of B. abortus, L. pomona, H. somnus, C. fetus respectively. The analysis by capillary electrophoresis of multiplex PCR products of DNA for simultaneous detection of the four pathogens was observed by detecting the dilution of 10-3 bacteria / mL times the initial concentration of the stock solution of each bacterium. The multiplex PCR coupled with capillary electrophoresis was first used for the direct diagnosis of four pathogenic bacteria in semen, proving to be a rapid method to detect bacteria that cause reproductive disorders.
Assuntos
Animais , Bovinos , Brucella abortus/isolamento & purificação , Campylobacter fetus/isolamento & purificação , Eletroforese Capilar/veterinária , Haemophilus somnus/isolamento & purificação , Leptospira interrogans serovar pomona/isolamento & purificação , Reação em Cadeia da Polimerase/veterinária , Sêmen/imunologia , Eletroforese Capilar , Reação em Cadeia da PolimeraseRESUMO
Este estudo teve como objetivo avaliar o limiar de detecção da técnica de PCR multiplex fluorescente aliada a eletroforese capilar na detecção de agentes infecciosos em amostras de sêmen experimentalmente contaminadas com concentrações decrescentes das bactérias Brucella abortus, Leptospira interrogans sorovar pomona, Campylobacter fetus e Haemophilus somnus. Amostras de sêmen bovino foram experimentalmente contaminadas com concentrações decrescentes de bactérias obtidas através de diluições seriadas na base 10 de modo a obter-se amostras contendo desde 1 vez até 10-7 bactérias/mL a partir da concentração inicial de Leptospira pomona, Brucella abortus, Campylobacter fetus e Haemophilus somnus. As diluições foram efetuadas individualmente para cada bactéria, bem como nas diferentes concentrações necessárias para a padronização do teste de multiplex PCR. As extrações de DNA de todas as soluções contendo espermatozóides e bactérias analisadas no presente estudo foram realizadas segundo protocolo descrito por Heinemann et al. (2000). Os produtos de PCR multiplex foram avaliados por eletroforese em gel de poliacrilamida 8% e separação eletroforética por sistema capilar em equipamento automático de análise de fragmentos de DNA MegaBace. Observou-se a amplificação de fragmentos de 193pb, 330pb, 400pb e 415pb a partir do DNA de B. abortus, L. pomona, H. somnus, C. fetus, respectivamente. Na análise por eletroforese capilar de produtos da PCR multiplex do DNA para detecção simultânea dos quatro patógenos observou-se a sinal de positividade até a diluição de 10-3 bactérias/mL vezes da concentração inicial da solução estoque de cada bactéria. A técnica de PCR multiplex aliada à eletroforese capilar foi usada pela primeira vez para o diagnóstico direto de quatro bactérias patogênicas no sêmen, demonstrando ser um método rápido na detecção de bactérias causadoras de doenças reprodutivas.(AU)
This study aimed to evaluate the threshold of detection of fluorescent multiplex PCR coupled with capillary electrophoresis for detection of infectious agents in semen samples from experimentally infected with decreasing concentrations of the bacteria Brucella abortus, Leptospira interrogans serovar pomona, Campylobacter fetus and Haemophilus somnus. Samples of bovine semen were experimentally infected with decreasing concentrations of bacteria obtained from serial dilutions in the base 10 so as to obtain samples containing a long time until 10-7 bacteria/mL from the initial concentration of Lepstospira pomona, Brucella abortus, Haemophilus somnus and Campylobacter fetus. The dilutions were made individually for each bacterium, as well as in different concentrations needed to standardize the multiplex PCR test. DNA extractions of all solutions containing sperm and bacteria analyzed in this study were performed according to protocol described by Heinemann et al. (2000). The multiplex PCR products were analyzed by electrophoresis on 8% polyacrylamide gel and capillary electrophoretic separation system for automated equipment in the analysis of DNA fragments MegaBACE. We observed amplification of fragments of 193pb, 330pb, 415pb and 400bp from the DNA of B. abortus, L. pomona, H. somnus, C. fetus respectively. The analysis by capillary electrophoresis of multiplex PCR products of DNA for simultaneous detection of the four pathogens was observed by detecting the dilution of 10-3 bacteria / mL times the initial concentration of the stock solution of each bacterium. The multiplex PCR coupled with capillary electrophoresis was first used for the direct diagnosis of four pathogenic bacteria in semen, proving to be a rapid method to detect bacteria that cause reproductive disorders.(AU)
Assuntos
Animais , Bovinos , Reação em Cadeia da Polimerase/veterinária , Eletroforese Capilar/veterinária , Sêmen/imunologia , Brucella abortus/isolamento & purificação , Leptospira interrogans serovar pomona/isolamento & purificação , Campylobacter fetus/isolamento & purificação , Haemophilus somnus/isolamento & purificação , Eletroforese Capilar , Reação em Cadeia da PolimeraseRESUMO
The objective was to evaluate the effect of beta-lactoglobulin (beta-lg) polymorphism and seasonality on milk composition (fat, lactose, total solids, milk urea nitrogen, total protein, true protein, casein and somatic cell counts) of Holstein and Girolando cows. Milk and blood samples from 278 Holsteins cows and 156 Girolando cows were taken during two dry seasons and two rainy seasons, for milk composition analysis and to determine beta-lg genotypes, respectively. BB genotype was the most frequent for both breeds, followed by AA genotype for Holstein (BB>AA>AB) and by AB for Girolando cows (BB>AB>AA). No differences were found in milk compositional characteristics among genetic variants of beta-lg (AA, AB and BB) either between Holstein or Girolando cows. No association between milk composition and beta-lg genetic polymorphism was observed. During the dry season, independently of the breed considered, higher contents of lactose, true protein, casein and casein:true protein ratio were found.
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Lactoglobulinas/genética , Leite/química , Polimorfismo Genético , Estações do Ano , Animais , Bovinos , FemininoRESUMO
BACKGROUND: The purpose of this experimental study was to evaluate the collagen fiber distribution histologically after phenytoin, cyclosporin, or nifedipine therapy and to correlate it with collagen I and matrix metalloproteinase (MMP)-1 and -2 gene expression levels. METHODS: Gingival samples from the canine area were obtained from 12 male monkeys (Cebus apella). The mesial part of each sample was assessed by reverse transcription-polymerase chain reaction, whereas the distal part was processed histologically for picrosirius red and hematoxylin and eosin stainings, as well as for collagen IV immunostaining. One week after the first biopsy, the animals were assigned to three groups that received daily oral dosages of cyclosporin, phenytoin, or nifedipine for 120 days. Additional gingival samples were obtained on days 52 and 120 of treatment from two animals from each group on the opposite sides from the first biopsies. RESULTS: Picrosirius red staining showed a predominance of mature collagen fibers in the control group. Conversely, there was an enlargement of areas occupied by immature collagen fibers in all groups at days 52 and 120, which was not uniform over each section. There was a general trend to lower levels of MMP-1 gene expression on day 52 and increased levels on day 120. Phenytoin led to increased levels of MMP-2 and collagen I gene expression on day 120, whereas the opposite was observed in the nifedipine group. CONCLUSION: Cyclosporin, phenytoin, and nifedipine led to phased and drug-related gene expression patterns, resulting in impaired collagen metabolism, despite the lack of prominent clinical signs.
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Anticonvulsivantes/farmacologia , Bloqueadores dos Canais de Cálcio/farmacologia , Colágeno/efeitos dos fármacos , Ciclosporina/farmacologia , Inibidores Enzimáticos/farmacologia , Gengiva/efeitos dos fármacos , Nifedipino/farmacologia , Fenitoína/farmacologia , Animais , Compostos Azo , Biópsia , Cebus , Colágeno/análise , Colágeno Tipo I/análise , Colágeno Tipo I/efeitos dos fármacos , Colágeno Tipo IV/análise , Colágeno Tipo IV/efeitos dos fármacos , Corantes , Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos , Gengiva/enzimologia , Gengiva/patologia , Crescimento Excessivo da Gengiva/induzido quimicamente , Crescimento Excessivo da Gengiva/enzimologia , Crescimento Excessivo da Gengiva/patologia , Gengivite/induzido quimicamente , Gengivite/enzimologia , Gengivite/patologia , Histocitoquímica , Masculino , Metaloproteinase 1 da Matriz/efeitos dos fármacos , Metaloproteinase 1 da Matriz/genética , Metaloproteinase 2 da Matriz/efeitos dos fármacos , Metaloproteinase 2 da Matriz/genética , Distribuição Aleatória , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
Con el objetivo de contribuir al mejor conocimiento de la epidemiología, diagnóstico y evolución de las atresias intestinales en nuestro medio, se realizó un estudio retrospectivo de 11 pacientes operados de atresia intestinal en el Hospital Pediátrico Provincial Docente Pepe Portilla de Pinar del Río entre el 1 de Enero de 1999 y el 31 de Diciembre del 2003. En este estudio pudimos observar que el 63.6 por ciento de los casos tuvieron un peso al nacer mayor de 2500 gramos, y el diagnóstico se realizó en las primeras 24 horas de vida en el 54.5 por ciento de los casos. Hubo predominio del sexo masculino y los vómitos estuvieron presentes en todos los pacientes de nuestro estudio...(AU)
Assuntos
Atresia IntestinalRESUMO
Con el objetivo de contribuir al mejor conocimiento de la epidemiología, diagnóstico y evolución de las atresias intestinales en nuestro medio, se realizó un estudio retrospectivo de 11 pacientes operados de atresia intestinal en el Hospital Pediátrico Provincial Docente "Pepe Portilla" de Pinar del Río entre el 1 de Enero de 1999 y el 31 de Diciembre del 2003. En este estudio pudimos observar que el 63.6 % de los casos tuvieron un peso al nacer mayor de 2500 gramos, y el diagnóstico se realizó en las primeras 24 horas de vida en el 54.5 % de los casos. Hubo predominio del sexo masculino y los vómitos estuvieron presentes en todos los pacientes de nuestro estudio. La atresia intestinal estuvo localizada en el yeyuno íleon en el 63.6 % de los casos, siendo las complicaciones sépticas frecuentes. Hubo una supervivencia de 90.9 %.
In order to contribuye to a better understanding of the epidemiology diagnosis and natural history of intestinal atresias in our environment, a retrospective study was carried out with 11 patients operated on due to intestinal atresia at "Pepe Portilla" Provincial Teaching Pediatric Hospital in Pinar del Río, from January 1st. 1999 to December 31st. 2003. In such study we could obsrve that 63,6% of the cases had a birth weight greater than 2500 gr. And the diagnosis was performed during the first 24 hours alter birth in 54.5% of the cases. Masculine sex was predominant, and vomiting was present in all patients of our study. The intestinal atresia was located in jejunum ileum in 63,6% of the cases, and septic complicatins were frequent. There was a 90,9% survival.
RESUMO
Las afecciones quirúrgicas en el neonato tienen una alta morbimortalidad, por la condición de recién nacido, los trastornos ocasionados por la enfermedad de base así como por la injuria provocada posteriormente por la intervención quirúrgica. Se realizó un estudio retrospectivo por la intervención quirúrgica. Se realizó un estudio retrospectivo, longitudinal de todos los neonatos a los cuales se le diagnosticó patologías quirúrgicas en el periodo comprendido entre enero de 2002 hasta diciembre de 2003 en la provincia de Pinar del Río (Cuba) con el objetivo de analizar el comportamiento diagnóstico y terapéutico de estos pacientes. En esta etapa se intervinieron quirúrgicamente 24 recién nacidos, la mayoría fueron masculinos (17), la operación se realizó con menos de 24 horas de nacido en 14 casos, las afecciones quirúrgicas más frecuentes fueron las de intestino delgado con 7 pacientes y la supervivencia fue de un 100 por cento, logrando la mejor tasa de supervivencia de los últimos años en este territorio...(AU)