RESUMO
The Polo Argentino (PA) horse is a recognized breed, developed originally by mixing crossbred and Thoroughbred (TB) horses to play polo. Early PA selection is difficult due to unreliable performance estimations. This study investigated the usefulness of genomic markers previously linked to morphological and functional traits as a tool for the early selection of PA. To this, we genotyped 520 PA and 30 TB horses using the Equine GGPArray (Illumina, n = 71,778 SNPs). Analyses included a genetic characterization of six genetic markers associated with behavioral (DRD4), muscular development (MSTN), and body size (LCORL, HMGA6, ZFAT, and LASP1) genes. Genetic differences in the DRD4, MSTN, and LCORL SNP were found between the two breeds, in the last two FST index between breeds was 0.13 and 0.6, respectively (p < 0.01). In DRD4, G allele was the more prevalent in PA (0.56 vs 0.45 in TB, p < 0.05), but no differences were observed between the genotypes associated with phenotypes. In MSTN, heterozygous genotypes were the most common in PA (48 %), with a significant decrease in AA (Hardy-Weinberg p < 0.05), suggesting a negative selection against it in polo horses. In body size, HMGA2 was monomorphic in all horses, while ZFAT and LASP1 SNP showed higher variability. Interestingly, 99 % of PA showed a TT genotype in LCORL (only 66 % in TB), demonstrating selection for smaller horses. Our results suggest that empirical selection in PA has generated an incipient genomic differentiation in discrete traits which could be used as a marker-assisted selection tool for early selection of polo horses.
Assuntos
Esportes , Animais , Cavalos/genética , Polimorfismo de Nucleotídeo Único , Genômica/métodos , Marcadores Genéticos/genética , Masculino , Genótipo , Condicionamento Físico AnimalRESUMO
The short-term storage of salmonid semen is a viable method for in vitro fertilisation. Previous studies have found that short-term storage affects sperm motility, compromising quality and fertilising capacity. However, the functional characteristics of the spermatozoa of O. mykiss during storage time and its relation to the spawning period are little known. This study was designed to evaluate the effects of in vitro short-term storage on sperm functional parameters in O. mykiss, determined by flow cytometry. Semen samples of the first spawning - undiluted (SSD) and diluted (SD) (Storfish(®) 1 : 2v/v; IMV AI solutions, France) - were stored at 4 °C for 14 days. Motility, viability (PMI: plasma membrane integrity) and mitochondrial membrane potential (ΔΨM) were assessed. On the fifth day of storage, spermatozoa showed a motility >70% (SSD: 78.3% versus SD 85.0%), PMI (81.5% SSD/87.2% SD) and ΔΨM (72.5% SSD/SD 80.0%) (P < 0.05). However, a significant decline in the percentage of all functional parameters (P < 0.05) was observed after 5 days of storage for all samples of both undiluted (SSD) and diluted semen. In conclusion, the results here provide new data on O. mykiss sperm quality with respect to in vitro short-term storage evaluated by flow cytometry.
Assuntos
Fertilização in vitro/veterinária , Potencial da Membrana Mitocondrial/fisiologia , Preservação do Sêmen/veterinária , Sêmen/fisiologia , Motilidade dos Espermatozoides/fisiologia , Animais , Fertilização in vitro/métodos , Citometria de Fluxo , Masculino , Oncorhynchus mykiss , Preservação do Sêmen/métodosRESUMO
Heterozygous familial hypercholesteremia type II is a recessive autonomic disease with a population incidence Assuntos
Transplante de Coração
, Hiperlipoproteinemia Tipo II/cirurgia
, Transplante de Fígado
, Adulto
, Insuficiência da Valva Aórtica/cirurgia
, Argentina
, Angiografia Coronária
, Ecocardiografia
, Humanos
, Hiperlipoproteinemia Tipo II/sangue
, Hiperlipoproteinemia Tipo II/diagnóstico por imagem
, Lipídeos/sangue
, Masculino
, Resultado do Tratamento
RESUMO
BACKGROUND: Portal vein thrombosis (PVT) is a well recognized complication of patients with end-stage cirrhosis and its incidence ranges from 2 to 26%. The aim of this study was to analyze the results and long-term follow-up of a consecutive series of liver transplants performed in patients with PVT and compare them with patients transplanted without PVT. PATIENTS AND METHODS: Between July 1995 and June 2006, 26 liver transplants were performed in patients with PVT (8.7%). Risk factors and variables associated with the transplant and the post-transplant period were analyzed. A comparative analysis with 273 patients transplanted without PVT was performed. RESULTS: The patients comprised 53.8% males, average age 40, 7 years. PVT was detected during surgery in 65%. Indications for transplantation were: post-necrotic cirrhosis 73%, cholestatic liver diseases 23%, and congenital liver fibrosis 4%. Child-Pugh C: 61.5%. Techniques were trombectomy in 21 patients with PVT grades I, II, IV, and extra-anatomical mesenteric graft in 5 with grade III. Morbidity was 57.7%, recurrence of PVT was 7.7%, and in-hospital mortality was 26.9%. Greater operative time, transfusion requirements, and re-operations were found in PVT patients. One-year survival was 59.6%: 75.2% for grade 1 and 44.8% for grades 2, 3, and 4. DISCUSSION: The study demonstrated a PVT prevalence of 8.7%, a higher incidence of partial thrombosis (grade 1), and successful management of PVT grade 4 with thrombectomy. Liver transplant in PVT patients was associated with an increased operative time, transfusion requirements, re-interventions, and lower survival rate according to PVT extension.
Assuntos
Transplante de Fígado/psicologia , Transplante de Fígado/estatística & dados numéricos , Seguimentos , Rejeição de Enxerto/epidemiologia , Humanos , Transplante de Fígado/mortalidade , Reoperação , Estudos Retrospectivos , Medição de Risco , Taxa de Sobrevida , Fatores de Tempo , Recusa do Paciente ao TratamentoAssuntos
Doenças Transmissíveis/epidemiologia , Transplante de Fígado , Complicações Pós-Operatórias/epidemiologia , Adulto , Neuropatias Amiloides/genética , Neuropatias Amiloides/cirurgia , Argentina/epidemiologia , Cuidados Críticos , Hospitais Públicos/estatística & dados numéricos , Humanos , Incidência , Tempo de Internação , Pré-Albumina/genética , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Cateterismo Urinário/efeitos adversos , Infecções Urinárias/epidemiologiaRESUMO
This is the first report from Argentina of liver transplantation in patients with transthyretin related familial amyloidotic polyneuropathy. The aims of the study were to analyze the clinical characteristics of this new focus and evaluate the postoperative complications and long term follow up. Five of ten patients evaluated underwent liver transplantation. During the waiting period the polyneuropathy disability score in each patient progressed one or two stages. Pretransplant modified body mass index was 723. The procedure was done with full size grafts in four cases and a split right graft in one. All patients presented postoperative complications related to disease: severe edema of the legs, recurrent choledochal lithiasis, postoperative hernia, necrotizing fasciitis and ischemic rectosigmoidal perforation. Assessment of three patients after 20 months of transplantation showed improvement in somatic and mental symptoms. No improvement was noted in cardiac denervation and gastric stasis. Liver transplantation is a rational therapeutic option for transthyretin familial amyloidotic polyneuropathy in Argentina and should be indicated in earlier stages of the symptomatic disease to reduce the postoperative morbidity and mortality. Family studies and follow up of asymptomatic carriers will define the epidemiological behavior in this country and facilitate early therapeutic intervention.
Assuntos
Neuropatias Amiloides/terapia , Transplante de Fígado , Pré-Albumina/genética , Adulto , Neuropatias Amiloides/mortalidade , Argentina , Feminino , Seguimentos , Humanos , Masculino , MutaçãoRESUMO
We have developed a quick and reliable diagnostic method for detecting variant forms of transthyretin (TTR); namely, centrifugal concentration followed by electrospray ionization mass spectrometry (ESI-MS). Argentinian patients from three families with neuropathic amyloidosis and their relatives were screened for mutated TTR by ESI-MS. In order to facilitate transportation, we investigated the impact storage had on lyophilized anti-TTR-antibody precipitates' mass spectra. For this investigation, plasma samples from three Swedish patients with known TTR amyloidosis were analysed. We detected identical, additional peaks corresponding to a variant form of TTR in 10 members of the families, and also in a lyophilized sample sent unfrozen by mail from Argentina. All except one symptomatic subject had additional peaks, the exception having undergone a liver transplantation for the disease. All patients were early onset cases, i.e. below 35 years of age, and family history suggests an aggressive, rapidly progressing disease. Lyophilized anti-TTR-antibody precipitates stored at room temperature for 1 week exhibited only minor differences compared with plasma samples stored at -70 degrees C. In a new Argentinian study on familial amyloidotic polyneuropathy, the variant TTR was quickly identified and typed by ESI-MS. To facilitate transportation, dry-frozen samples can be used and the quality of the spectra is similar to that of samples stored at -70 degrees C.