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1.
J Assist Reprod Genet ; 37(7): 1567-1577, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32594284

RESUMO

PURPOSE: The state of limited resource settings that Coronavirus (COVID-19) pandemic has created globally should be taken seriously into account especially in healthcare sector. In oncofertility, patients should receive their fertility preservation treatments urgently even in limited resource settings before initiation of anticancer therapy. Therefore, it is very crucial to learn more about oncofertility practice in limited resource settings such as in developing countries that suffer often from shortage of healthcare services provided to young patients with cancer. METHODS: As an extrapolation during the global crisis of COVID-19 pandemic, we surveyed oncofertility centers from 14 developing countries (Egypt, Tunisia, Brazil, Peru, Panama, Mexico, Colombia, Guatemala, Argentina, Chile, Nigeria, South Africa, Saudi Arabia, and India). Survey questionnaire included questions on the availability and degree of utilization of fertility preservation options in case of childhood cancer, breast cancer, and blood cancer. RESULTS: All surveyed centers responded to all questions. Responses and their calculated oncofertility scores showed different domestic standards for oncofertility practice in case of childhood cancer, breast cancer, and blood cancer in the developing countries under limited resource settings. CONCLUSIONS: Medical practice in limited resource settings has become a critical topic especially after the global crisis of COVID-19 pandemic. Understanding the resources necessary to provide oncofertility treatments is important until the current COVID-19 pandemic resolves. Lessons learned will be valuable to future potential worldwide disruptions due to infectious diseases or other global crises.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/prevenção & controle , Atenção à Saúde/normas , Preservação da Fertilidade/métodos , Neoplasias/terapia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Betacoronavirus/isolamento & purificação , COVID-19 , Infecções por Coronavirus/transmissão , Infecções por Coronavirus/virologia , Atenção à Saúde/economia , Países em Desenvolvimento , Feminino , Preservação da Fertilidade/economia , Preservação da Fertilidade/estatística & dados numéricos , Humanos , Neoplasias/virologia , Pneumonia Viral/transmissão , Pneumonia Viral/virologia , SARS-CoV-2 , Inquéritos e Questionários
2.
J Endocrinol Invest ; 42(1): 75-83, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29687417

RESUMO

PURPOSE: To evaluate the plasma level of 8-isoprostanes in women with polycystic ovary syndrome. To also investigate whether there is a relationship between 8-isoprostanes and several cardiovascular risk factors. METHODS: A total of 125 women with polycystic ovary syndrome and 169 healthy women were enrolled in this case-control study. 8-Isoprostanes and different parameters were measured in all subjects. Patients were evaluated for the presence of polycystic ovary syndrome according to the Rotterdam Consensus Conference criteria. RESULTS: 8-Isoprostanes levels were significantly higher in patients with polycystic ovary syndrome (138.4 ± 104.1 pg/mL) compared with control group (68.6 ± 34.3 pg/mL) (p < 0.001). The mean of triglycerides, lipid accumulation product, C-reactive protein, homocysteine, insulin, and homeostatic model assessment for insulin resistance were significantly higher in polycystic ovary syndrome patients with high 8-isoprostanes than those with normal 8-isoprostanes (p < 0.05). The Pearson correlation analyses showed that 8-isoprostanes levels in polycystic ovary syndrome group had a positive correlation with waist circumference, triglycerides, low-density lipoprotein cholesterol, apolipoprotein B, homocysteine, insulin, homeostatic model assessment for insulin resistance. CONCLUSIONS: Patients with polycystic ovary syndrome have higher 8-isoprostanes levels and it is associated with several cardiovascular risk factors.


Assuntos
Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/epidemiologia , Dinoprosta/análogos & derivados , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/epidemiologia , Adulto , Biomarcadores/sangue , Doenças Cardiovasculares/diagnóstico , Estudos de Casos e Controles , Dinoprosta/sangue , Feminino , Humanos , Isoprostanos/sangue , Obesidade/sangue , Obesidade/diagnóstico , Obesidade/epidemiologia , Síndrome do Ovário Policístico/diagnóstico , Fatores de Risco , Adulto Jovem
3.
J Evol Biol ; 26(6): 1341-52, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23517061

RESUMO

Environmental inputs during early development can shape the expression of phenotypes, which has long-lasting consequences in physiology and life history of an organism. Here, we study whether experimentally manipulated availability of dietary antioxidants, vitamins C and E, influences the expression of genetic variance for antioxidant defence, endocrine signal and body mass in yellow-legged gull chicks using quantitative genetic models based on full siblings. Our experimental study in a natural population reveals that the expression of genetic variance in total antioxidant capacity in plasma increased in chicks supplemented with vitamins C and E despite the negligible effects on the average phenotype. This suggests that individuals differ in their ability to capture and transport dietary antioxidants or to respond to these extra resources, and importantly, this ability has a genetic basis. Corticosterone level in plasma and body mass were negatively correlated at the phenotypic level. Significant genetic variance of corticosterone level appeared only in control chicks nonsupplemented with vitamins, suggesting that the genetic variation of endocrine system, which transmits environmental cues to adaptively control chick development, appeared in stressful conditions (i.e. poor antioxidant availability). Therefore, environmental inputs may shape evolutionary trajectories of antioxidant capacity and endocrine system by affecting the expression of cryptic genetic variation.


Assuntos
Antioxidantes/metabolismo , Aves/genética , Variação Genética , Estresse Fisiológico , Vitaminas/metabolismo , Animais , Aves/crescimento & desenvolvimento , Peso Corporal , Corticosterona/sangue , Peroxidação de Lipídeos , Estresse Oxidativo , Espécies Reativas de Oxigênio/metabolismo
4.
Anim Genet ; 44(6): 648-60, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23826865

RESUMO

This study aimed at identifying differential gene expression conditional on the fatty acid profile of the longissimus thoracis (Lt) muscle, a prime cut of economic relevance for fresh and cured pork production. A population of 110 Iberian (25%) × Landrace (75%) back-crossed pigs was used, because these two breeds exhibit extreme profiles of intramuscular saturated fatty acid, monounsaturated fatty acid (MUFA) and polyunsaturated fatty acid (PUFA) contents. Total RNA from Lt muscle was individually hybridized to GeneChip Porcine Genome arrays (Affymetrix). A principal component analysis was performed with data from the 110 animals to select 40 extreme animals based on the total fatty acid profile and the MUFA composition (MAP). Comparison of global transcription levels between extreme fatty acid profile pigs (n = 40) resulted in 219 differentially expressed probes (false discovery rate <0.10). Gene ontology, pathway and network analysis indicated that animals with higher percentages of PUFA exhibit a shift toward a more oxidative muscular metabolism state, with a raise in mitochondria function (PPARGC1A, ATF2), fatty acid uptake and oxidation (FABP5, MGLL). On the other hand, 87 probes were differentially expressed between MUFA composition groups (n = 40; false discovery rate <0.10). In particular, muscles rich in n-7 MUFA expressed higher levels of genes involved in lipid metabolism (GLUL, CRAT, PLA2G15) and lower levels of fatty acid elongation genes (ELOVL5). Moreover, the chromosomal position of FABP5, PAQR3, MGLL, PPARGC1A, GLUL and ELOVL5 co-localized with very relevant QTL for fat deposition and composition described in the same resource population. This study represents a complementary approach to identifying genes underlying these QTL effects.


Assuntos
Composição Corporal/genética , Ácidos Graxos/análise , Músculo Esquelético/química , Sus scrofa/genética , Sus scrofa/metabolismo , Animais , Cruzamento/métodos , Cruzamentos Genéticos , Perfilação da Expressão Gênica/veterinária , Ontologia Genética , Análise de Sequência com Séries de Oligonucleotídeos/veterinária , Análise de Componente Principal , Locos de Características Quantitativas/genética , Reação em Cadeia da Polimerase em Tempo Real/veterinária
5.
Aerobiologia (Bologna) ; 29(2): 301-314, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23576841

RESUMO

In this study, we investigated and compared the microbial communities adhering to the obverse and the reverse sides of an oil painting on canvas exhibiting signs of biodeterioration. Samples showing no visible damage were investigated as controls. Air samples were also analysed, in order to investigate the presence of airborne microorganisms suspended in the indoor atmosphere. The diversity of the cultivable microorganisms adhering to the surface was analysed by molecular techniques, such as RAPD analysis and gene sequencing. DGGE fingerprints derived from DNA directly extracted from canvas material in combination with clone libraries and sequencing were used to evaluate the non-cultivable fraction of the microbial communities associated with the material. By using culture-dependent methods, most of the bacterial strains were found to be common airborne, spore-forming microorganisms and belonged to the phyla Actinobacteria and Firmicutes, whereas culture-independent techniques identified sequenced clones affiliated with members of the phyla Actinobacteria and Proteobacteria. The diversity of fungi was shown to be much lower than that observed for bacteria, and only species of Penicillium spp. could be detected by cultivation techniques. The selected strategy revealed a higher microbial diversity on the obverse than on the reverse side of the painting and the near absence of actively growing microorganisms on areas showing no visible damage. Furthermore, enzymatic activity tests revealed that the most widespread activities involved in biodeterioration were esterase and esterase lipase among the isolated bacterial strains, and esterase and N-acetyl-ß-glucosaminidase among fungi strains.

6.
Anim Genet ; 43(6): 800-4, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22497576

RESUMO

We performed a whole-genome scan with 110 informative microsatellites in a commercial Duroc population for which growth, fatness, carcass and meat quality phenotypes were available. Importantly, meat quality traits were recorded in two different muscles, that is, gluteus medius (GM) and longissimus thoracis et lumborum (LTL), to find out whether these traits are determined by muscle-specific genetic factors. At the whole-population level, three genome-wide QTL were identified for carcass weight (SSC7, 60 cM), meat redness (SSC13, 84 cM) and yellowness (SSC15, 108 cM). Within-family analyses allowed us to detect genome-wide significant QTL for muscle loin depth between the 3rd and 4th ribs (SSC15, 54 cM), backfat thickness (BFT) in vivo (SSC10, 58 cM), ham weight (SSC9, 69 cM), carcass weight (SSC7, 60 cM; SSC9, 68 cM), BFT on the last rib (SSC11, 48 cM) and GM redness (SSC8, 85 cM; SSC13, 84 cM). Interestingly, there was low positional concordance between meat quality QTL maps obtained for GM and LTL. As a matter of fact, the three genome-wide significant QTL for colour traits (SSC8, SSC13 and SSC15) that we detected in our study were all GM specific. This result suggests that QTL effects might be modulated to a certain extent by genetic and environmental factors linked to muscle function and anatomical location.


Assuntos
Composição Corporal/genética , Carne , Repetições de Microssatélites/genética , Músculo Esquelético , Locos de Características Quantitativas/genética , Sus scrofa , Animais , Mapeamento Cromossômico , Estudo de Associação Genômica Ampla/veterinária , Fenótipo , Sus scrofa/genética
7.
J Evol Biol ; 24(3): 693-7, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21332857

RESUMO

As organisms age, DNA of somatic cells deteriorates, but it is believed that germ cells are protected from DNA-damaging agents. In recent years, this vision has been challenged by studies on humans indicating that genomic instability in germ cells increases with age. However, nothing is known about germ line senescence in wild animals. Here, we examine DNA damage in sperm of a wild vertebrate, the blue-footed booby Sula nebouxii. One of the major types of premutagenic DNA damage generated by oxidative stress (a proximal cause of ageing) is loss of single bases resulting in apurinic/apyrimidinic sites (AP sites). We examined AP sites in the sperm of known-age males sampled during courtship on Isla Isabel, Mexico. We show that damage to the DNA of sperm increases with age of male blue-footed boobies. Moreover, we found that sexual attractiveness (foot colour) declines with age and is correlated with germ line damage of senescent males. By choosing attractive males, females might reduce the probability of their progeny bearing damaged DNA. This study reports the first evidence of senescence in the germ line of a wild vertebrate and future studies should investigate whether this burden of senescence is sidestepped by potential sexual partners.


Assuntos
Envelhecimento/fisiologia , Charadriiformes/genética , Dano ao DNA , Espermatozoides/fisiologia , Animais , Charadriiformes/fisiologia , Feminino , Masculino
8.
Endoscopy ; 43(5): 442-4, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21165824

RESUMO

In a clinical series, 10 consecutive female patients with intra-abdominal infections were successfully treated with natural orifice transluminal endoscopic surgery (NOTES) performed transvaginally. The surgery, which consisted of a hybrid NOTES procedure using a transvaginal approach, was performed on an emergency basis by the surgical team on call. The indications for surgery were acute cholecystitis (n = 6), acute appendicitis (n = 2), and pelvic peritonitis (n = 2) with intra-abdominal infection. The procedure was successfully performed in all patients using a dual-channel endoscope and mini-laparoscopy assistance. This is the first clinical series in which NOTES has been performed on an emergency basis to treat intra-abdominal infections. Transvaginal surgery for intra-abdominal infection is a feasible procedure for groups experienced in the elective NOTES approach.


Assuntos
Apendicectomia/métodos , Colecistectomia/métodos , Cirurgia Endoscópica por Orifício Natural/métodos , Adulto , Apendicite/cirurgia , Colecistite Aguda/cirurgia , Feminino , Humanos , Lavagem Peritoneal/métodos , Peritonite/cirurgia , Resultado do Tratamento , Vagina
9.
Anim Genet ; 42(5): 548-51, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21906106

RESUMO

A considerable number of fatness QTL have been identified in growing pigs, but there is a lack of knowledge about the genetic architecture of this trait in gilts and sows. We have performed a genome scan, in 255 Iberian × Meishan F(2) sows, for backfat thickness (BF) at 150 (BF(150) ) and 210 (BF(210)) days of age, 30 days after conception (BF(30)) and 7-10 days before farrowing (BF(bf)). We have found one BF150 QTL in SSC6 (120 cM) that was highly significant (P < 0.001) at the chromosome-wide level and suggestive at the genome-wide level (P < 0.1). Ten additional chromosome-wide significant QTL were found for sow BF(150) (SSC1, SSC13), BF(210) (SSC6, SSC8, SSC15), BF(30) (SSC5, SSC6) and BF(bf) (SSC1, SSC6, SSC13). The location of several of the BF QTL varied depending on the growing and reproductive status of the sow, suggesting that part of these genetic effects may have a temporal pattern of phenotypic expression.


Assuntos
Adiposidade , Locos de Características Quantitativas , Sus scrofa/genética , Animais , Mapeamento Cromossômico , Cromossomos de Mamíferos , Sus scrofa/fisiologia
10.
J Anim Breed Genet ; 128(5): 344-53, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21906180

RESUMO

Teat number is an important trait in sows that should accompany the increase in litter size that has been achieved in the last decades through selection. We have previously identified a genome-wide significant QTL for teat number in porcine chromosome SSC5 by means of an experimental Meishan by Iberian F(2) intercross population. In the present report, we have studied the porcine parathyroid hormone-like hormone (PTHLH) gene, which maps to SSC5, as a candidate gene for this trait, as PTHLH is involved in nipple formation during embryogenesis and nipple development during pregnancy and lactation. We have found that porcine PTHLH gene is transcribed into three mRNA species differing in the 5'UTR region. Two of these variants are reported in pigs here for the first time: one was similar to variant 1 described in humans while the other, which was generated by the retention of two small introns, has not been identified before in any other species. In addition, mRNA expression profile for two of the mRNA variants was assessed in 19 pig tissues. Porcine PTHLH showed a widespread expression as it was present in all tested tissues and relative expression of each variant was tissue dependent. Finally, we have performed an association study between a non-synonymous mutation in the coding region of this gene and sow teat number. The PTHLH polymorphism was segregating in our Meishan by Iberian F(2) population at intermediate allelic frequencies. We compared here six different statistical models to choose the one with a better fit and a lower degree of complexity. However, despite the potential negative effect of the PTHLH mutation in the signal peptide of this protein, we did not detect any association between the PTHLH genotype and the sow teat number phenotype, concluding that the causal mutation of the observed QTL is very likely not related to this gene.


Assuntos
Glândulas Mamárias Animais/anatomia & histologia , Proteína Relacionada ao Hormônio Paratireóideo/genética , Sus scrofa/genética , Processamento Alternativo , Animais , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Genótipo , Masculino , Fenótipo , Polimorfismo Genético
11.
J Anim Breed Genet ; 128(5): 329-43, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21906179

RESUMO

Models in QTL mapping can be improved by considering all potential variables, i.e. we can use remaining traits other than the trait under study as potential predictors. QTL mapping is often conducted by correcting for a few fixed effects or covariates (e.g. sex, age), although many traits with potential causal relationships between them are recorded. In this work, we evaluate by simulation several procedures to identify optimum models in QTL scans: forward selection, undirected dependency graph and QTL-directed dependency graph (QDG). The latter, QDG, performed better in terms of power and false discovery rate and was applied to fatty acid (FA) composition and fat deposition traits in two pig F2 crosses from China and Spain. Compared with the typical QTL mapping, QDG approach revealed several new QTL. To the contrary, several FA QTL on chromosome 4 (e.g. Palmitic, C16:0; Stearic, C18:0) detected by typical mapping vanished after adjusting for phenotypic covariates in QDG mapping. This suggests that the QTL detected in typical mapping could be indirect. When a QTL is supported by both approaches, there is an increased confidence that the QTL have a primary effect on the corresponding trait. An example is a QTL for C16:1 on chromosome 8. In conclusion, mapping QTL based on causal phenotypic networks can increase power and help to make more biologically sound hypothesis on the genetic architecture of complex traits.


Assuntos
Tecido Adiposo/fisiologia , Ácidos Graxos/genética , Modelos Genéticos , Fenótipo , Locos de Características Quantitativas , Suínos/genética , Animais , Simulação por Computador
12.
Rev Esp Enferm Dig ; 103(1): 5-12, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21341931

RESUMO

OBJECTIVE: Analysis and evaluation of a multidisciplinary approach, postoperative results and survival of a group of patients with resected pancreatic cancer after a multimodal therapy. DESIGN: DESCRIPTIVE, prospective and observational study. PATIENTS: Between January 2004 and December 2004, 124 patients with pancreatic cancer were evaluated. In 30 patients pancreatic resection was performed, and they are the object of this study. Results of preoperative evaluation, postoperative morbidity and mortality, and long term survival were studied. RESULTS: Diagnostic evaluation was completed in ambulatory basis in 20% of the patients. In 63% of cases, admission was done in the same day of surgery. In 3 patients (9%), tumor resection was not achieved, therefore, concordance between radiological and surgical resectability rate was 91%. Resectability rate was 24.1%. Surgical Mortality was 3.3%, with a global morbidity rate of 56.6%. Survival at one, two, three and, four years was 76.2%, 56.3%, 43%, y 27.3% respectively. CONCLUSIONS: Technological development and coordination of efforts in multidisciplinary teams offer an accurate evaluation of tumor involvement, and may reduce the number of laparotomies without tumor resection. The application of a systematic and generalized multimodal treatment in pancreatic cancer is progressively showing a tendency of progressive increase in resectability and survival rates in pancreatic cancer.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Ductal Pancreático/terapia , Pancreatectomia/métodos , Neoplasias Pancreáticas/terapia , Equipe de Assistência ao Paciente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma/diagnóstico , Carcinoma/diagnóstico por imagem , Carcinoma/patologia , Carcinoma/terapia , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/diagnóstico por imagem , Carcinoma Ductal Pancreático/patologia , Carcinoma Ductal Pancreático/secundário , Quimioterapia Adjuvante , Colangiopancreatografia Retrógrada Endoscópica , Colectomia , Terapia Combinada , Desoxicitidina/administração & dosagem , Desoxicitidina/análogos & derivados , Diagnóstico por Imagem , Feminino , Hepatectomia/métodos , Humanos , Estimativa de Kaplan-Meier , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/cirurgia , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Compostos Organoplatínicos/administração & dosagem , Oxaliplatina , Pancreatectomia/mortalidade , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/patologia , Pancreaticoduodenectomia , Estudos Prospectivos , Stents , Taxa de Sobrevida , Gencitabina
13.
J Evol Biol ; 23(4): 769-75, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20149019

RESUMO

Oxidative stress has recently been suggested to play an important role in life-history evolution, but little is known about natural variation and heritability of this physiological trait. Here, we explore phenotypic variation in resistance to oxidative stress of cross-fostered yellow-legged gull (Larus cachinnans) chicks. Resistance to oxidative stress was not related to plasma antioxidants at hatching, which are mostly derived from maternal investment into eggs. Common environmental effects on phenotypic variation in resistance to oxidative stress were not significant. Heritability was relatively low and nonsignificant in hatchlings, but interestingly, the chicks of age 8 days showed high and significant heritability (h(2) = 0.59). Our results suggest that resistance to oxidative stress is determined mainly by the genotype as chicks grow. Further work is required to explore the genetic role of oxidative stress in life-history evolution.


Assuntos
Charadriiformes/genética , Charadriiformes/fisiologia , Estresse Oxidativo , Animais , Antioxidantes/metabolismo , Evolução Biológica , Charadriiformes/crescimento & desenvolvimento , Meio Ambiente , Padrões de Herança
14.
Anim Genet ; 41(1): 73-80, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19793269

RESUMO

The previous results from a genome scan for total number of piglets born and number of piglets born alive in a F(2) Iberian by Meishan intercross showed several single and epistatic QTL. One of the most interesting results was obtained for SSC12, where two QTL affecting both traits showed epistatic interaction. In this study, we proposed two genes (SLC9A3R1 and NOS2) as biological and potentially positional candidates underlying these QTL. Both cDNAs were characterized and 23 polymorphisms were detected. A chromosome scan was conducted with 12 markers, plus one SNP in SLC9A3R1 and one in NOS2, covering 110 cM of SSC12. The epistatic QTL (QTL1 at 15 cM and QTL2 at 97 cM) were confirmed, and SLC9A3R1 and NOS2 were mapped around the QTL1 and QTL2 regions respectively. Several SNPs in both genes were tested with standard animal model and marker assisted association tests. The most significant results were obtained with the NOS2 haplotype defined by one missense SNP c.2192C > T (Val to Ala) and a 15 bp duplication at the 3'UTR. This duplication seems to include AU-rich elements, and could be a target site for miRNA, therefore there are statistical and biological indications to consider this haplotype as the potential causal mutation underlying QTL2. SLC9A3R1 results were not conclusive. Although the interaction between the SNPs was not significant, we cannot reject the possibility of interaction of the NOS2 haplotype with other polymorphisms closely linked to the SL9A3R1 SNPs analysed.


Assuntos
Epistasia Genética , Tamanho da Ninhada de Vivíparos/genética , Nascido Vivo/veterinária , Óxido Nítrico Sintase Tipo II/genética , Fosfoproteínas/genética , Locos de Características Quantitativas , Trocadores de Sódio-Hidrogênio/genética , Sus scrofa/genética , Animais , Nascido Vivo/genética
15.
Radiologia ; 52(6): 541-5, 2010.
Artigo em Espanhol | MEDLINE | ID: mdl-20863540

RESUMO

OBJECTIVE: The most common treatment in recurrent malignant ascites is generally temporary peritoneal drainage. We present our experience in placing permanent tunneled catheters in a series of patients and analyze the safety and efficacy of the treatment. MATERIAL AND METHODS: We used total aseptic measures in the interventional ultrasonography suite to place permanent tunneled catheters in 10 patients under ultrasonographic guidance and local anesthesia. RESULTS: The catheters remained patent for a median of 52 days in the nine patients who died. In one of these, the catheter was withdrawn while still patent due to generalized sepsis. At the end of the study, one patient still had a permeable catheter 124 days after placement. CONCLUSION: Although the low number of patients in our series precludes generalizations, tunneled peritoneal catheters seem to be a safe and effective minimally invasive treatment for malignant ascites in terminal oncologic patients. This approach facilitates the draining of the ascites at home, obviating the need for repeated hospital visits and punctures and the risks involved therein. Nevertheless, further experience and prospective randomized trials are necessary.


Assuntos
Ascite/terapia , Cateteres de Demora , Drenagem/instrumentação , Drenagem/métodos , Adulto , Idoso , Ascite/diagnóstico por imagem , Ascite/etiologia , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Peritoneais/complicações , Ultrassonografia de Intervenção
16.
Anim Genet ; 40(6): 813-20, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19496770

RESUMO

Despite the economic interest of the fatty acid profile in pigs, no gene has been convincingly associated with this trait so far. Here, the porcine microsomal triglyceride transfer protein (MTTP) gene, which plays a crucial role in the assembly of nascent lipoproteins, has been analysed as a positional candidate gene for a QTL affecting the fatty acid composition that was previously identified on chromosome 8 in an Iberian by Landrace F(2) cross. By resequencing a panel of different breeds, a non-synonymous polymorphism in a conserved residue of the lipid transfer domain of MTTP was identified. Association analyses with this polymorphism showed a strong association with the fatty acid composition of porcine fat, much stronger than the QTL effect, in the F(2) cross and in a synthetic Sino-European line. In addition, in vitro activity assays in liver protein extracts have shown that this mutation is also associated with the lipid transfer activity of the MTTP protein (P < 0.1). These results suggest that the detected polymorphism is a potential causal factor of the fatty acid composition QTL. There appears to be an interaction between the porcine MTTP genotype and the type of fat source in the pig diet, which would agree with the previous results on the biology of MTTP biology.


Assuntos
Proteínas de Transporte/genética , Lipoproteínas/metabolismo , Mutação , Sus scrofa/genética , Animais , Dieta , Ácidos Graxos/análise , Lipoproteínas/análise , Fígado/química , Locos de Características Quantitativas
17.
Anim Biotechnol ; 20(3): 110-23, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19544207

RESUMO

Three genes are the major determinants of heritable hypercholesterolemia diseases in humans: APOB, LDLR and LDLRAP1, which encode for proteins that physically interact to promote cholesterol uptake in the cell. We have carried out association analyses of these variants with serum cholesterol and triglycerides concentrations in a half-sib Duroc pig population. Given the structure of the population (six paternal half-sib families), we have used a statistical model that considers separately the allele transmission through dams (at population level) and through sires (within-families from heterozygous sire). Only polymorphisms showing a relevant substitution effect for both male- and female-transmitted alleles are likely to be causal mutations. Thus, although we have found statistical association between genotypes for LDLR and APOB polymorphisms and serum lipid levels (mean allele substitution effects ranging from 15 to 40% of the standard deviation of these traits), none of them seem to be the causal mutation but probably represent closely linked polymorphisms. We have shown here that these three genes also contribute to genetic variability in pigs, with the description of new polymorphisms in their coding regions. Moreover, we have demonstrated that variants on two of these three genes are segregating in a number of commercial breeds. Finally, we report here the coding region for the porcine LDLRAP1 gene and describe a polymorphism in the last exon of this gene.


Assuntos
Apolipoproteínas B/genética , Polimorfismo Genético , Receptores de LDL/genética , Sus scrofa/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Alelos , Animais , Sequência de Bases , Colesterol/sangue , DNA Complementar/genética , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Humanos , Masculino , Modelos Genéticos , Mutação , Polimorfismo de Nucleotídeo Único , Especificidade da Espécie , Sus scrofa/sangue , Triglicerídeos/sangue
18.
Animal ; 13(12): 2765-2772, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31159900

RESUMO

The Iberian pig is one of the pig breeds that has the highest meat quality. Traditionally, producers have bred one of the available varieties, exclusively, and have not used crosses between them, which has contrasted sharply with other populations of commercial pigs for which crossbreeding has been a standard procedure. The objective of this study was to perform an experiment under full diallel design among three contemporary commercial varieties of Iberian pig and estimate the additive genetic variation and the crossbreeding effects (direct, maternal and heterosis) for prolificacy. The data set comprised 18 193 records for total number born and number born alive from 3800 sows of three varieties of the Iberian breed (Retinto, Torbiscal and Entrepelado) and their reciprocal crosses (Retinto × Torbiscal, Torbiscal × Retinto, Retinto × Entrepelado, Entrepelado × Retinto, Torbiscal × Entrepelado and Entrepelado × Torbiscal), and a pedigree of 4609 individuals. The analysis was based on a multiple population repeatability model, and we developed a model comparison test that indicated the presence of direct line, maternal and heterosis effects. The results indicated the superiorities of the direct line effect of the Retinto and the maternal effect of the Entrepelado populations. All of the potential crosses produced significant heterosis, and additive genetic variation was higher in the Entrepelado than it was in the other two populations. The recommended cross for the highest yield in prolificacy is a Retinto father and an Entrepelado mother to generate a hybrid commercial sow.


Assuntos
Variação Genética , Vigor Híbrido/genética , Hibridização Genética , Tamanho da Ninhada de Vivíparos/genética , Suínos/genética , Animais , Cruzamentos Genéticos , Feminino , Masculino , Gravidez , Suínos/fisiologia
19.
Rev Clin Esp (Barc) ; 219(6): 315-319, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30737010

RESUMO

INTRODUCTION: In decompensated heart failure (HF), both acute kidney injury (AKI) and high Galectina-3 (Gal-3) levels have been associated with poorer outcomes. Plasma Gal-3 levels are affected by renal function; however, the potential role of Gal-3 as a predictor of AKI has not been established. METHODS: We measured Gal-3 concentrations at admission for 175 patients hospitalised for HF and recorded the onset of AKI according to the Risk, Injury, Failure, Loss and End-stage kidney disease (RIFLE) analytical criteria. RESULTS: During hospitalisation, 44 patients (25.1%) developed AKI, although only 14 (8%) corresponded to more advanced stages. These 14 patients had significantly higher Gal-3 levels at admission, which remained a predictor of AKI after the multivariate adjustment by other predictors and by baseline renal function. CONCLUSIONS: High Gal-3 levels at admission are associated with a higher risk of AKI during hospitalisation for decompensated HF.

20.
Sci Rep ; 9(1): 2031, 2019 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-30765794

RESUMO

The adipogenic nature of the Iberian pig defines many quality attributes of its fresh meat and dry-cured products. The distinct varieties of Iberian pig exhibit great variability in the genetic parameters for fat deposition and composition in muscle. The aim of this work is to identify common and distinct genomic regions related to fatty acid composition in Retinto, Torbiscal, and Entrepelado Iberian varieties and their reciprocal crosses through a diallelic experiment. In this study, we performed GWAS using a high density SNP array on 382 pigs with the multimarker regression Bayes B method implemented in GenSel. A number of genomic regions showed strong associations with the percentage of saturated and unsaturated fatty acid in intramuscular fat. In particular, five regions with Bayes Factor >100 (SSC2 and SSC7) or >50 (SSC2 and SSC12) explained an important fraction of the genetic variance for miristic, palmitoleic, monounsaturated (>14%), oleic (>10%) and polyunsaturated (>5%) fatty acids. Six genes (RXRB, PSMB8, CHGA, ACACA, PLIN4, PLIN5) located in these regions have been investigated in relation to intramuscular composition variability in Iberian pigs, with two SNPs at the RXRB gene giving the most consistent results on oleic and monounsaturated fatty acid content.


Assuntos
Adiposidade/genética , Obesidade/genética , Adipogenia/genética , Animais , Ácidos Graxos/genética , Ácidos Graxos Monoinsaturados , Ácidos Graxos Insaturados , Genoma/genética , Genômica/métodos , Carne/análise , Fenótipo , Suínos/genética
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