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2.
Forensic Sci Int Genet ; 44: 102200, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31760353

RESUMO

We describe an ancestry-informative autosomal SNP multiplex designed to be a small-scale, flexible panel that can complement uniparental markers in assessing the American variability (i.e. pre-Colombian) found in contemporary indigenous American populations. This study centered on choosing SNPs with the specific characteristics of: 1) extreme allele frequency differences between indigenous Americans and the African, European and East Asian population groups that contribute to present-day population variation in the Americas; 2) high informativeness-for-assignment In values; and 3) well-spaced genomic distribution and chromosomal separation from existing small-scale forensic ancestry marker sets. The resulting capillary electrophoresis SNaPshot single base extension test was named: PIMA (Population Informative Multiplex for the Americas), comprising 26 autosomal SNPs, a single X-chromosome SNP plus the amelogenin sex marker adapted for SNaPshot. PIMA complements the established 34plex forensic ancestry panel to provide a powerful and simple tool for the analysis of American populations, including those with admixed histories, commonly encountered in America. Comparing the results obtained with the combined marker panels of PIMA and 34plex to SNP data from a much larger ancestry panel allowed us to gauge their relative efficiency. PIMA+34plex gives equivalent power to the 314-SNP 'LACE' genomic ancestry control panel, while requiring a much smaller genotyping effort. The ancestry profiles and genetic structure of 22 populations spread across the American continent were estimated using PIMA+34plex data, and those estimates were contrasted with information provided by uniparental markers (mtDNA and Y-chromosome loci) for a small set of admixed individuals from Venezuela. Our results indicate that an American genetic component is efficiently detected in contemporary American populations using a small set of ancestry informative SNPs, and these co-ancestry estimates are consistent with the known history and demography of the Americas. The small scale and high population differentiation power of PIMA, particularly when combined with 34plex, provides a practical and powerful tool for genetic studies of American populations as well as forensic DNA analyses.


Assuntos
Etnicidade/genética , Genética Populacional , Polimorfismo de Nucleotídeo Único , Grupos Raciais/genética , Amelogenina/genética , América , Cromossomos Humanos Y , DNA Mitocondrial , Eletroforese Capilar , Frequência do Gene , Marcadores Genéticos , Genótipo , Humanos , Reação em Cadeia da Polimerase Multiplex
3.
Artigo em Espanhol | LILACS, LIVECS | ID: biblio-1255160

RESUMO

El tratamiento , en el estadio II de disfunción del tendón tibial posterior (DTTP) consiste en la transferencia del tendón Flexor Largo de los dedos (FLD) para suplir al tendón tibial posterior insuficiente y un procedimiento óseo para corregir la deformidad adquirida del retropié. En este estudio, evaluamos la función y eficacia de la transferencia del FLD tunelizado en el escafoide tarsiano vs la tenodesis del mismo al muñón distal del tendón tibial posterior. Material y método: Se realizó un estudio retrospectivo y comparativo de los pacientes intervenidos por esta patología en la Unidad de Pie y Tobillo del HCC, entre los años 2005 y 2012. En 27 pacientes se realizó tunelización del FLD en el escafoides tarsiano y en 49 pacientes se realizó tenodesis del FLD al muñón distal del tendón tibial posterior; en todos los pacientes se realizó un procedimiento óseo para corregir la deformidad adquirida del retropié. Se midió goniometricamente, inversión y flexión plantar del pie al año de postoperatorio en todos los pacientes y se comparó con el pie sano. Se evaluó pérdida de función ó dolor en zona de la transferencia. El análisis estadístico se realizó con t-student. Resultados: 6 pacientes presentaron DTTP bilateral y fueron descartados de este estudio. Los pacientes con tunelización del FLD en el escafoides tarsiano, presentaron una media de 62% de inversión y 86% de flexión plantar, los pacientes con tenodesis de FLD, presentaron una media de 86% de inversión y 89% de flexión plantar. Perdieron función del tendón, 1 paciente con tendón tunelizado, y 2 con tenodesis; presentaron dolor en la zona de la transferencia 2 pacientes con tenodesis del FLD. Conclusión: De nuestro estudio podemos concluir, que la tenodesis del FLD al muñón distal del tendón Tibial posterior, produce una mejor inversión del pie que la tunelización del FLD en el escafoides tarsiano(AU)


The surgical treatment of stage II posterior tibial tendon dysfunction (PTTD) is the transfer of the flexor digitorum longus tendon (FDL) to supply the posterior tibial tendon and a bone procedure to correct the acquired deformity of the hindfoot. In this study we evaluated the role and effectiveness of the FDL transfer to a tarsal scaphoid tunnel vs tenodesis of the distal stump of the posterior tibial tendon. Materials and methods: We performed a retrospective comparative study of patients with this disease in the Foot and Ankle Unit of HCC between 2005 and 2012, in 27 patients FDL tunnel was performed in the tarsal navicular and in 49 patients FDL tenodesis was performed to the distal posterior tibial tendon stump; in all patients a bone procedure was performed to correct acquired deformity of the hindfoot. Goniometrical measure was performed for forefoot inversion and plantar flexion at 12 months postop and compared with the healthy foot. Pain or loss of function in the transfer zone was evaluated. Statistical analysis was performed using T-student. Results: 6 patients had bilateral and PTTD and were excluded from this study. Patients with tarsal scaphoid FDL tunnel showed a mean of 62% forefoot inversion and 86% of plantar flexion, patients with FDL tenodesis, showed an average of 86% forefoot inversion and 89% of plantar flexion. One tendon tunnel patient lost tendon function and 2 tenodesis patient lost tendon function. 2 patients with FDL tenodesis had pain in the transfer area. Conclusion: From our study we can conclude that FDL tenodesis to the distal posterior tibial tendon stump produces a better forefoot inversion than the FDL tarsal navicular tunnel(AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Procedimentos Ortopédicos , Disfunção do Tendão Tibial Posterior , Tenodese , Osteotomia , Reabilitação , Âncoras de Sutura , Órtoses do Pé
5.
R. bras. Reprod. Anim. ; 36(3): 141-147, jul.-set. 2012.
Artigo em Português | VETINDEX | ID: vti-8230

RESUMO

A inseminação artificial é uma prática de rotina nas granjas de suínos no Brasil, porém o tempo de conservação do sêmen diluído ainda é um problema devido à alta sensibilidade das células espermáticas ao choque térmico e ao alto grau de estresse oxidativo presente. Assim, o objetivo do presente trabalho foi reportar as diferentes formas de conservação do sêmen suíno e os possíveis fatores presentes durante o estresse oxidativo que diminuem o potencial fecundante dos espermatozoides, demonstrando que os antioxidantes podem servir como uma alternativa para minimizar os efeitos induzidos pelas espécies reativas de oxigênio durante o protocolo de conservação do sêmen suíno.(AU)


Artificial insemination is a practice routine on boar farms in Brazil, but the time for preservation of semen is still an issue due to the high sensitivity of the sperm cells to warm-shock and the high degree of oxidative stress present. Thus, the objective was to report the different forms of boar semens preservation and factors present during the oxidative stress that reducing the sperm fertilizing potential, and this revision showed that the antioxidants as a potent alternative to minimize these effects induced by reactive oxygen species during the stress caused during the protocol for storage of boar semen.(AU)


Assuntos
Animais , Preservação do Sêmen/métodos , Preservação do Sêmen/tendências , Antioxidantes/química , Espécies Reativas de Oxigênio/análise , Suínos/embriologia , /métodos , Estresse Oxidativo
6.
Rev. bras. reprod. anim ; 36(3): 141-147, jul.-set. 2012.
Artigo em Português | VETINDEX | ID: biblio-1492019

RESUMO

A inseminação artificial é uma prática de rotina nas granjas de suínos no Brasil, porém o tempo de conservação do sêmen diluído ainda é um problema devido à alta sensibilidade das células espermáticas ao choque térmico e ao alto grau de estresse oxidativo presente. Assim, o objetivo do presente trabalho foi reportar as diferentes formas de conservação do sêmen suíno e os possíveis fatores presentes durante o estresse oxidativo que diminuem o potencial fecundante dos espermatozoides, demonstrando que os antioxidantes podem servir como uma alternativa para minimizar os efeitos induzidos pelas espécies reativas de oxigênio durante o protocolo de conservação do sêmen suíno.


Artificial insemination is a practice routine on boar farms in Brazil, but the time for preservation of semen is still an issue due to the high sensitivity of the sperm cells to warm-shock and the high degree of oxidative stress present. Thus, the objective was to report the different forms of boar semen’s preservation and factors present during the oxidative stress that reducing the sperm fertilizing potential, and this revision showed that the antioxidants as a potent alternative to minimize these effects induced by reactive oxygen species during the stress caused during the protocol for storage of boar semen.


Assuntos
Animais , Antioxidantes/química , Espécies Reativas de Oxigênio/análise , Preservação do Sêmen/métodos , Preservação do Sêmen/tendências , Suínos/embriologia , Estresse Oxidativo
7.
Forensic Sci Int Genet ; 4(1): e9-10, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19948327

RESUMO

A set of autosomal single nucleotide polymorphism (SNP) loci was analyzed using the 52-plex assay previously described by Sanchez et al. [J.J. Sanchez, C. Phillips, C. Borsting, K. Balogh, M. Bogus, M. Fondevila, C.D. Harrison, E. Musgrave-Brown, A. Salas, D. Syndercombe-Court, P.M. Schneider, A. Carracedo, N. Morling, A multiplex assay with 52 single nucleotide polymorphisms for human identification, Electrophoresis 27 (2006) 1713-1724] in 140 samples of unrelated individuals born in the Colombian regions of, Risaralda, Caldas, Quindio, Antioquia, Tolima and Valle, and 164 samples of unrelated individuals with declared Native American ancestry from Colombia. Allele frequencies and statistical parameters of forensic interest are presented for the 52 SNPs. All loci were in agreement with Hardy-Weinberg equilibrium while comparisons with population samples of Argentina, Portugal, Spain, Mozambique, and Taiwan revealed significant differences in allele frequency distributions.


Assuntos
Genética Populacional , Polimorfismo de Nucleotídeo Único , Colômbia , Impressões Digitais de DNA , Genótipo , Humanos , Reação em Cadeia da Polimerase
8.
Forensic Sci Int Genet ; 3(1): 7-13, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19083860

RESUMO

The simple tetrameric STR D9S1120 exhibits a common population-specific allele of 9 repeats (9RA) reported to have an average frequency of 0.36 in Native Americans from both North and South of the continent. Apart from the presence of 9RA in two northeast Siberian populations, D9S1120 shows variability exclusive to, and universal in all American populations studied to date. This STR therefore provides an informative forensic marker applicable in countries with significant proportions of Native American populations or ancestry. We have re-designed PCR primers that reduce the amplified product sizes reported in NCBI UniSTS by more than a third and have characterized the repeat structure of D9S1120. The 9RA allele shares the same repeat structure as the majority of other D9S1120 alleles and so originates from a slippage-diminution mutation rather than an independent deletion. We confirm the previously reported allele frequencies from a range of populations indicating a global heterozygosity range for D9S1120 of 66-75% and estimate the proportion of Native American-diagnostic genotypes to average 53%, underlining the potential usefulness of this STR in both forensic identification and in population genetics studies of the Americas.


Assuntos
Genética Forense/métodos , Indígenas Norte-Americanos/genética , Sequências de Repetição em Tandem/genética , Sequência de Bases , Primers do DNA , Frequência do Gene/genética , Humanos , Dados de Sequência Molecular , América do Norte , Polimorfismo de Nucleotídeo Único , Sibéria , América do Sul
9.
Vet Parasitol ; 155(1-2): 24-31, 2008 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-18565676

RESUMO

Visceral leishmaniasis (VL) is one of the most important reemerging parasitic disease in the world. The domestic dog is the main reservoir in urban environments. The aim of this work was to extend the knowledge on canine Leishmania infection in the city of Fortaleza in northeastern Brazil, identifying the risk factors inherent in dog susceptibility to the infection. Two populations were analyzed, domestic dogs from clinics and the Veterinary Hospital Unit of Ceará State University and stray dogs captured by the Center for Zoonosis Control in Fortaleza. Blood samples were collected and centrifuged and the sera were stored at -20 degrees C. ELISA, with soluble crude Leishmania chagasi antigens (LTCC - WDCM731) was used for diagnosis. A total of 1,381 samples were tested, 750 from domestic and 631 from stray dogs. The seroprevalence of canine VL was 21.4% (135/631) in stray dogs and 26.2% (197/750) in domestic dogs. The seroprevalence of Leishmania infection in the six administrative regions of the city (Secretarias Executivas Regionais, or SER) among stray dogs was highest in SER V, representing 31.4% of the cases, with large dogs more infected (27.7%). Among domestic dogs Leishmania infection was most prevalent in SER V (38.5%) and VI (37.6%). The dogs' age (1-6 years), large size, environment with dense vegetation and presence of clinical signs compatible with Leishmania infection were associated with the illness in domestic dogs. The frequency of the infection varied seasonally. The seroprevalence was greatest in July and December. These results confirm Fortaleza is an endemic area for canine VL and suggest some variables associated with increasing infection risk in dog populations.


Assuntos
Doenças do Cão/epidemiologia , Leishmaniose Visceral/veterinária , Animais , Brasil/epidemiologia , Estudos Transversais , Doenças do Cão/sangue , Doenças do Cão/parasitologia , Cães , Feminino , Leishmaniose Visceral/sangue , Leishmaniose Visceral/epidemiologia , Leishmaniose Visceral/parasitologia , Masculino , Estudos Soroepidemiológicos , Fatores de Tempo
10.
Clin Exp Rheumatol ; 25(1): 47-53, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17417990

RESUMO

OBJECTIVE: To describe the occurrence of erosive arthropathy in systemic lupus erythematosus (SLE) and its relationship to anti-CCP antibodies. METHODS: Retrospective medical record review of a case series of five female patients with SLE and erosive arthropathies. RESULTS: The initial disease presentation in all patients was a polyarthritis. Anti-CCP antibodies were detected in 4 out of 5 (80%) patients, 2 of whom had a positive rheumatoid factor. CONCLUSION: Erosive arthritis was strongly associated with the presence of anti-CCP antibodies in these patients with SLE, who presented with polyarthritis. Anti-CCP in patients with SLE may be a marker of a more severe joint disease.


Assuntos
Artrite Reumatoide/complicações , Articulação da Mão/patologia , Lúpus Eritematoso Sistêmico/complicações , Peptídeos Cíclicos/imunologia , Adulto , Artrite Reumatoide/imunologia , Feminino , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Pessoa de Meia-Idade , Derrame Pleural/etiologia , Fator Reumatoide/sangue
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