Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 148
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Bull Exp Biol Med ; 170(5): 686-688, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33788114

RESUMO

The model of artificial intelligence DENTOMO, which allows automated deciphering the CT in maxillofacial area, was developed and implemented in practical dentistry. The presented model is based on two convolutional neural networks, includes a database and knowledge base, harmonized with SNOMED Clinical Terms is a systematically organized computer processable collection of medical terms providing codes, terms, synonyms and definitions used in clinical documentation and reporting. The developed model automatically decodes cone beam CT images, identifies and classifies the anatomical structures of the human dental system, and reveals the pathological processes and their dynamics in dentistry system. This model generates the medical reports automatically. Testing of DENTOMO model demonstrated a reasonable effectiveness in deciphering the CT of dental system. The developed technology allows computerizing and objectifying interpretation of CT of the dental system.


Assuntos
Inteligência Artificial , Tomografia Computadorizada de Feixe Cônico , Humanos , Aprendizado de Máquina , Redes Neurais de Computação
2.
Proc Biol Sci ; 286(1895): 20182533, 2019 01 30.
Artigo em Inglês | MEDLINE | ID: mdl-30963955

RESUMO

Mass stranding events (MSEs) of beaked whales (BWs) were extremely rare prior to the 1960s but increased markedly after the development of naval mid-frequency active sonar (MFAS). The temporal and spatial associations between atypical BW MSEs and naval exercises were first observed in the Canary Islands, Spain, in the mid-1980s. Further research on BWs stranded in association with naval exercises demonstrated pathological findings consistent with decompression sickness (DCS). A 2004 ban on MFASs around the Canary Islands successfully prevented additional BW MSEs in the region, but atypical MSEs have continued in other places of the world, especially in the Mediterranean Sea, with examined individuals showing DCS. A workshop held in Fuerteventura, Canary Islands, in September 2017 reviewed current knowledge on BW atypical MSEs associated with MFAS. Our review suggests that the effects of MFAS on BWs vary among individuals or populations, and predisposing factors may contribute to individual outcomes. Spatial management specific to BW habitat, such as the MFAS ban in the Canary Islands, has proven to be an effective mitigation tool and mitigation measures should be established in other areas taking into consideration known population-level information.


Assuntos
Som/efeitos adversos , Baleias/fisiologia , Animais , Dinâmica Populacional
3.
Plant Cell Environ ; 41(2): 383-394, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29194661

RESUMO

Solar UV-B radiation has been reported to enhance plant defenses against herbivore insects in many species. However, the mechanism and traits involved in the UV-B mediated increment of plant resistance are unknown in crops species, such as soybean. Here, we studied defense-related responses in undamaged and Anticarsia gemmatalis larvae-damaged leaves of two soybean cultivars grown under attenuated or full solar UV-B radiation. We determined changes in jasmonates, ethylene (ET), salicylic acid, trypsin protease inhibitor activity, flavonoids, and mRNA expression of genes related with defenses. ET emission induced by Anticarsia gemmatalis damage was synergistically increased in plants grown under solar UV-B radiation and was positively correlated with malonyl genistin concentration, trypsin proteinase inhibitor activity and expression of IFS2, and the pathogenesis protein PR2, while was negatively correlated with leaf consumption. The precursor of ET, aminocyclopropane-carboxylic acid, applied exogenously to soybean was sufficient to strongly induce leaf isoflavonoids. Our results showed that in field-grown soybean isoflavonoids were regulated by both herbivory and solar UV-B inducible ET, whereas flavonols were regulated by solar UV-B radiation only and not by herbivory or ET. Our study suggests that, although ET can modulate UV-B-mediated priming of inducible plant defenses, some plant defenses, such as isoflavonoids, are regulated by ET alone.


Assuntos
Etilenos/metabolismo , Glycine max/fisiologia , Mariposas , Reguladores de Crescimento de Plantas/fisiologia , Ácido Abscísico/metabolismo , Animais , Ciclopentanos/metabolismo , Herbivoria , Larva , Oxilipinas/metabolismo , Folhas de Planta/fisiologia , Ácido Salicílico/metabolismo , Glycine max/efeitos da radiação , Raios Ultravioleta
4.
Environ Res ; 161: 399-408, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29197758

RESUMO

In the framework of the FP7 ECsafeSeafood project, 62 seafood samples commercialized in Europe Union from several representative species - mackerel, tuna, salmon, seabream, cod, monkfish, crab, shrimp, octopus, perch and plaice - were analysed for residues of 21 personal care products (PCPs), including 11 UV-filters (UV-Fs) and 10 musk fragrances (musks). PCPs analysis were performed by Quick, Easy, Cheap, Effective Rugged, Safe (QuEChERS), combined with liquid-liquid extraction (LLE) or dispersive solid-phase extraction (dSPE), followed by gas chromatography-tandem mass spectrometry (GC-MS/MS). The results showed the presence in a wide range of samples of nine out of eleven UV-Fs compounds analysed, namely 2-ethylhexyl salicylate (EHS), 2-ethylhexyl,4-methoxycinnamate (EHMC), 4-methylbenzylidenecamphor (4-MBC), benzophenone-1 (BP1), benzophenone-3 (BP3), isoamyl-4-methoxycinnamate (IMC), 2,2'-dihydroxy-4,4'-dimethoxybenzophenone (DHMB), homosalate (HS), and octocrylene (OC), whereas galaxolide (HHCB), galaxolide lactone (HHCB-lactone), and tonalide (AHTN) were the most found musks. The potential risks to human health associated with the exposure to eight of the more prevalent PCPs - EHS, EHMC, 4-MBC, BP1, BP3, IMC, HHCB, and AHTN - through seafood consumption were assessed for consumers from five European countries (Belgium, Ireland, Italy, Portugal and Spain). Results showed that the human exposure to UV-Fs and musks estimated from the concentration values found in seafood and the daily consumption of concerned seafood species, were far below toxicological reference values.


Assuntos
Ácidos Graxos Monoinsaturados , Odorantes , Alimentos Marinhos , Espectrometria de Massas em Tandem , Europa (Continente) , União Europeia , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Odorantes/análise , Alimentos Marinhos/análise
5.
Audiol Neurootol ; 22(1): 56-59, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28668955

RESUMO

OBJECTIVE: The aim of this study is to determine whether sex and age influence posterior semicircular canal (PSC) thickness. METHODS: This observational study was conducted in 3 tertiary hospitals. The minimal distance between the PSC and the posterior cranial fossa (PSC thickness) was estimated by thin-section multidetector row computed axial tomography (CAT) scan of the temporal bones. Nonselected consecutive patients of all ages (607 temporal bones) were considered. RESULTS: A significant effect was only detected for sex (F = 5.418, p = 0.020); PSC thickness showed a higher mean value in women (mean difference ± SE: 0.224 ± 0.096 mm). A significant and negative r value was detected for males aged >45 years (-0.173, p = 0.026); in that group of patients, PSC thickness decreased as age increased (0.018 ± 0.008 mm/year). For females aged ≤45 years, a significant and positive r value was found (0.198, p = 0.022); in that group, PSC thickness increased as age increased (0.020 ± 0.008 mm/year). CONCLUSIONS: PSC thickness did not significantly evolve with age in young males (≤45 years) but it decreased from age 45 years onwards. On the other hand, PCS thickness increased with age in women until the age of 45 years and it did not significantly change in older females.


Assuntos
Canais Semicirculares/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Adulto , Fatores Etários , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Canais Semicirculares/anatomia & histologia , Fatores Sexuais , Osso Temporal/anatomia & histologia , Tomografia Computadorizada por Raios X
6.
Environ Res ; 143(Pt B): 56-64, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26409498

RESUMO

The occurrence and levels of PhACs, Endocrine Disrupting and related Compounds (EDCs) in seafood from potential contaminated areas in Europe has been studied. Macroalgae (Saccharina latissima and Laminaria digitata), bivalves (Mytilus galloprovincialis, Mytilus spp., Chamalea gallina and Crassostrea gigas) and fish (Liza aurata and Platichthys flesus) from Portugal, Spain, Italy, Netherlands, and Norway were analysed following 4 different analytical protocols depending on the organism and target group of contaminants. The results revealed the presence of 4 pharmaceutical compounds in macroalgae samples, 16 in bivalves and 10 in fish. To the best of our knowledge, this is the first time that PhACs have been detected in marine fish and in macroalgae. Besides, this is also the first time that dimetridazole, hydrochlorothiazide and tamsulosin have been detected in biota samples. The highest levels of PhACs corresponded to the psychiatric drug velanfaxine (up to 36.1 ng/g dry weight (dw)) and the antibiotic azithromycin (up to 13.3 ng/g dw) in bivalves from the Po delta (Italy). EDCs were not detected in macroalgae samples, however, the analysis revealed the presence of 10 EDCs in bivalves and 8 in fish. The highest levels corresponded to the organophosphorus flame retardant tris(2-butoxyethyl)phosphate (TBEP) reaching up to 98.4 ng/g dw in mullet fish from the Tagus estuary. Bivalves, in particular mussels, have shown to be good bioindicator organisms for PhACs and fish for EDCs. Taking into consideration the concentrations and frequencies of detection of PhACs and EDCs in the seafood samples analysed, a list of candidates' compounds for priorization in future studies has been proposed.


Assuntos
Bivalves/química , Disruptores Endócrinos/análise , Peixes/metabolismo , Preparações Farmacêuticas/análise , Alga Marinha/química , Poluentes Químicos da Água/análise , Animais , Monitoramento Ambiental/métodos , Europa (Continente) , Linguado/metabolismo , Smegmamorpha/metabolismo
7.
Environ Res ; 143(Pt B): 65-71, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25985745

RESUMO

In the last decades, awareness regarding personal care products (PCP), i.e. synthetic organic chemicals frequently used in cosmetic and hygienic products, has become a forward-looking issue, due to their persistency in the environment and their potential multi-organ toxicity in both human and wildlife. Seafood is one of the most significant food commodities in the world and, certainly, one of the most prone to bioaccumulation of PCP, what can consequently lead to human exposure, especially for coastal population, where its consumption is more marked. The aim of this work was to evaluate the co-occurrence of musk fragrances and UV-filters in both seafood and macroalgae collected in different European hotspots (areas with high levels of pollution, highly populated and near wastewater treatment plants). Despite the fact that UV-filters were detected in three different kind of samples (mussel, mullet, and clam), in all cases they were below the limit of quantification. Galaxolide (HHCB) and tonalide (AHTN) were the musk fragrances most frequently detected and quantified in samples from the European hotspots. Cashmeran (DPMI) was also detected in most samples but only quantified in two of them (flounder/herring and mullet). The highest levels of HHCB and AHTN were found in mussels from Po estuary.


Assuntos
Monitoramento Ambiental/métodos , Perfumes/análise , Alimentos Marinhos/análise , Alga Marinha/química , Protetores Solares/análise , Animais , Bivalves/química , Europa (Continente) , Peixes/metabolismo , Cromatografia Gasosa-Espectrometria de Massas , Reprodutibilidade dos Testes , Alimentos Marinhos/normas , Sensibilidade e Especificidade , Espectrometria de Massas em Tandem
8.
Cell Biochem Funct ; 33(4): 211-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25914345

RESUMO

The relationship between the mitogen-activated protein kinase response, nuclear factor-κB (NFκB) expression and the apoptosis in human acute promyelocytic leukaemia NB4 cells treated with vinblastine was investigated in this work. Cell viability, subdiploid DNA and cell cycle were analysed by propidium iodide permeability and flow cytometry analyses. Apoptosis was determined by annexin V-Fluorescein isothiocyanate assays. Western-blot analysis was used for determination of expression levels of apoptotic factors (p53, Bax and Bcl2), intracellular kinases [serine/threonine-specific protein kinase, extracellular signal-regulated kinase and c-Jun N-terminal kinase (JNK)], NFκB factor and caspases. Electrophoretic mobility shift assay was usefully applied to study DNA-NFκB interaction. In NB4 cells, vinblastine produces alteration of p53 and DNA fragmentation. Vinblastine treatment had an antiproliferative effect via the induction of apoptosis producing Bax/Bcl-2 imbalance. Vinblastine treatment suppressed NFκB expression and depressed NFκB-DNA binding activity while maintaining JNK activation that subsequently resulted in apoptotic response through caspase-dependent pathway. Our study provides a possible anti-cancer mechanism of vinblastine action on NB4 cells by deregulation of the intracellular signalling cascade affecting to JNK activation and NFκB expression. Moreover, JNK activation and NFκB depression can be very significant factors in apoptosis induction by vinblastine.


Assuntos
Antineoplásicos Fitogênicos/farmacologia , Apoptose/efeitos dos fármacos , Proteínas Quinases JNK Ativadas por Mitógeno/metabolismo , Leucemia Promielocítica Aguda/tratamento farmacológico , Leucemia Promielocítica Aguda/patologia , NF-kappa B/metabolismo , Vimblastina/farmacologia , Western Blotting , Caspases/metabolismo , Ciclo Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Ensaio de Desvio de Mobilidade Eletroforética , Citometria de Fluxo , Humanos , Leucemia Promielocítica Aguda/metabolismo , Células Tumorais Cultivadas
9.
J Org Chem ; 79(15): 6970-7, 2014 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-24977923

RESUMO

Fluorinated 2-(p-tolylsulfinyl)benzyl carbanions react with allyl and propargyl halides in a highly stereoselective way, providing homoallylic and homopropargylic fluorides, respectively, with high optical purity. Theoretical calculations found transition states for these transformations whose relative stabilities are consistent with the experimentally observed stereoselectivity.


Assuntos
Ânions/química , Compostos de Benzil/química , Fluoretos/química , Hidrocarbonetos Fluorados/química , Hidrocarbonetos Fluorados/síntese química , Pargilina/química , Pargilina/síntese química , Espectroscopia de Ressonância Magnética , Estrutura Molecular , Pargilina/análogos & derivados , Teoria Quântica , Estereoisomerismo
10.
Artigo em Inglês | MEDLINE | ID: mdl-38548548

RESUMO

BACKGROUND: The stay in a critical care unit (CCU) has a serious impact on physical condition causing numerous discomfort factors such as pain or difficulty in communicating. All of these are associated with possible sequelae following discharge from the Intensive Care Unit (ICU) named post-ICU syndrome. The Kolcaba Comfort Theory allows, from a holistic approach, to identify care needs from the patient's perspective using instruments such as the General Comfort Questionnaire (GCQ). OBJECTIVES: To determine the comfort level of patients admitted to the CCU using the GCQ of Kolcaba and to identify the discomfort factors. METHODS: Cross-sectional descriptive observational prospective study. POPULATION: 580 patients admitted to adult CCU of two high complexity hospitals from June 2015 to March 2020 with stay ≥24 h were interviewed. Descriptive analysis, Student's t-test and ANOVA and multivariate analysis were performed using SPSS v26 and STATA v16. RESULTS: The mean age was 52,62 (16,21), 357 (61,6%) were male and 434 (74,8%) were believers. The type of admission was planned in 322 (55,5%) and the most prevalent reason for admission was surgical 486 (83,8%). The median pain score (NRS) was 3,00 [0-4] and severity score (APACHE II) was 13,26 (5,89), the median length of stay was 4,00 [2-7] days. The mean comfort level was 3,02 (0,31) showing the highest value Reanimation 3.02 (0.30) and the lowest Trauma and Emergency Unit 2.95 (0.38). Statistically significant differences were found between the units in the comfort level of patients >65 years of age (p = 0.029). The Relief comfort type obtained the lowest mean 2.81 (0.33) and the physical context 2.75 (0.41) in the three units. In the multivariate analysis, statistically significant differences were found between the comfort level and the pain level: no pain (p = 0,000) OR 4,361 CI [2,184-8,707], mild pain (p = 0,000) OR 4,007 CI [2,068-7,763], moderate pain (p = 0,007) OR 2,803 CI [1,328-5,913], and the APACHE II score equal to or greater than 10 (p = 0,000) OR 0,472 CI [0,316-0,705]. CONCLUSIONS: The comfort level showed high scores in all three units. The physical and environmental contexts and the relief comfort type negatively affected the perception of comfort. The variables that explained comfort were pain and severity of illness. The evaluation of comfort from the patient's perspective through the GCQ could be considered an indicator of quality of nursing interventions.

11.
Folia Morphol (Warsz) ; 72(2): 167-70, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23740506

RESUMO

A non-human dental piece was found in a Roman Empire tomb dated the 3rd century A.C. in Zaragoza (Spain). The morphology of this piece showed mixed brachyodont (carnivores) and hypsodont (herbivores) characteristics. As a result, the taxonomical assignation of the piece was impossible. Therefore, a protocol based on the DNA sequence of the cytochrome c oxidase subunit 1 mitochondrial region (COI) was applied. For this purpose, a pair of primers able to amplify this region in a large variety of animals was designed. The results point to a species of the Genus Bos (Family Bovidae). This assignation was later confirmed by these quencing of a short fragment of the mitochondrial D-loop region. A complete morphological description of the tooth is presented together with the DNA sequence study and comparison protocol.


Assuntos
Bovinos , Dente/anatomia & histologia , Terras Antigas , Animais , Sequência de Bases , Filogenia , Reação em Cadeia da Polimerase , Espanha , Dente/metabolismo
12.
Gac Sanit ; 37: 102345, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-38006664

RESUMO

OBJECTIVE: To translate, adapt and validate the psychometric properties of MoVac-flu scale in order to be used in Spanish. METHOD: The present research was an analytical observational study of cross-cultural adaptation and validation into Spanish of the MoVac-flu scale. It has been carried out between the months of March and July 2022. The sample size was 142 people who were obtained by consecutive sampling. The processes used for the adaptation have been translation, validation by a committee of experts, back-translation and pilot test. For validation, the psychometric properties of reliability, internal consistency, appearance validity, content validity, utility and ceiling-floor effect have been verified. RESULTS: The internal consistency of the MoVac-flu scale in its version translated into Spanish was high, showing a McDonald's ω of 0.914. CONCLUSIONS: The MoVac-flu scale in Spanish allows to measure the degree of motivation towards vaccination against influenza in the adult population.


Assuntos
Vacinas contra Influenza , Influenza Humana , Adulto , Humanos , Influenza Humana/prevenção & controle , Motivação , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários , Traduções , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Cooperação e Adesão ao Tratamento/psicologia
13.
Artigo em Inglês | MEDLINE | ID: mdl-38001020

RESUMO

INTRODUCTION: The frailty present at hospital admission and the stressors to which patients are subjected during their stay may increase dependency at hospital discharge. OBJECTIVES: To assess the predictive validity of the Clinical Frailty Scale-España (CFS-Es) on increased dependency at 3 and 12 months (m) after hospital discharge. METHODOLOGY: Multicentre cohort study in 2020-2022. Including patients with >48 h stay in intensive care units (ICU) and non-COVID-19. VARIABLES: pre-admission frailty (CFS-Es). Sex, age, days of stay (ICU and hospital), dependency on admission and at 3 m and 12 m after discharge (Barthel index), muscle weakness (Medical Research Council Scale sum score <48), hospital readmissions. STATISTICS: descriptive and multivariate analysis. RESULTS: 254 cases were included. Thirty-nine per cent were women and the median [Q1-Q3] age was 67 [56-77] years. SAPS 3 on admission (median [Q1-Q3]): 62 [51-71] points. Frail patients on admission (CFS-Es 5-9): 58 (23%). Dependency on admission (n = 254) vs. 3 m after hospital discharge (n = 171) vs. 12 m after hospital discharge (n = 118): 1) Barthel 90-100: 82% vs. 68% vs. 65%. 2) Barthel 60-85: 15% vs. 15% vs. 20%. 3) Barthel 0-55: 3% vs. 17% vs. 15%. In the multivariate analysis, adjusted for the variables recorded, we observed that frail patients on admission (CFS-Es 5-9) are 2.8 times (95%CI: 1.03-7.58; p = 0.043) more likely to increase dependency (Barthel 90-100 to <90 or Barthel 85-60 to <60) at 3 m post-discharge (with respect to admission) and 3.5 times (95%CI: 1.18-10.30; p = 0.024) more likely to increase dependency at 12 m post-discharge. Furthermore, for each additional CFS-Es point there is a 1.6-fold (95%CI: 1.01-2.23; p = 0.016) greater chance of increased dependency in the 12 m following discharge. CONCLUSIONS: CFS-Es at admission can predict increased dependency at 3 m and 12 m after hospital discharge.

14.
Chemistry ; 18(17): 5314-8, 2012 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-22431296

RESUMO

Asymmetric nucleophilic monofluoroalkylation of a broad range of aldehydes with an α-fluoro-γ-sulfinylbenzyl carbanion takes place with complete control of the facial selectivity at the carbanion and good to high anti-diastereoselectivity to give easily separable mixtures of two optically pure 1,2-fluorohydrin derivatives (up to 24:1 anti/syn). Separation and removal of the p-tolylsulfinyl group with tBuLi provides enantiomerically pure anti-1,2-disubstituted-1,2-fluorohydrins, whereas α-fluorobenzylketones can be obtained by desulfinylation of the mixture followed by pyridinium chlorochromate oxidation (one-pot process).


Assuntos
Aldeídos/química , Compostos de Benzil/química , Flúor/química , Hidrocarbonetos Fluorados/química , Cetonas/química , Sulfóxidos/química , Estrutura Molecular , Estereoisomerismo
15.
Br J Dermatol ; 166(4): 830-8, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22121851

RESUMO

BACKGROUND: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholesterol and 8-dehydrocholesterol. OBJECTIVES: To expand the understanding of CDPX2, clinically, biochemically and genetically. METHODS: We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay. RESULTS: In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases. CONCLUSIONS: No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases.


Assuntos
Condrodisplasia Punctata/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação/genética , Esteroide Isomerases/genética , Inativação do Cromossomo X/genética , Adulto , Colestadienóis/metabolismo , Colesterol/metabolismo , Condrodisplasia Punctata/metabolismo , Análise Mutacional de DNA/métodos , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/metabolismo , Genótipo , Humanos , Lactente , Fenótipo , Espanha
16.
Front Vet Sci ; 9: 929858, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35847654

RESUMO

The aim of this research was to compare the different techniques to measure sperm nuclear DNA fragmentation (sDF) and to check its relations to boar reproductive value, classical spermiogram parameters, and reproductive results of the doses in sows. Sperm chromatin stability assay (SCSA), terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay, and sperm chromatin dispersion test (SCD, Halomax®) results were compared, finding a statistically significant correlation only between SCSA and TUNEL results. The fertility direct boar effect (DBE) index, calculated from the whole productive life of the boar, was not correlated (p > 0.05) with sDF (measured by any technique). Total or progressive sperm motility was not correlated with sDF, while it found a positive correlation between TUNEL measure and abnormal acrosomes (%) and between SCD measure and total sperm morphological abnormalities (%). No significant correlations were obtained between fertility or prolificacy results and sDF results with the different techniques. However, in the case of total born and SCSA measure, the correlation was close to significance (r partial = -0.095; p = 0.066), appointing to a tendency; as SCSA increases, the number of total piglets born decreases. In conclusion, although the different techniques for the sDF seem not to target exactly the same DNA events and the relationship between their values and the reproductive results and the classical spermiogram results is still to be elucidated, the studied sDF techniques may offer extra information that could be useful for the management of AI studs.

17.
Clin Genet ; 79(5): 475-81, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-20629670

RESUMO

Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant association for ADH and dbSNP RS ID rs965814 (G/A), located in 8q24.22 cytoband. ADH was significantly associated to rs965814 G allele (p < 0.05) in a case-control study based on 200 unrelated ADH subjects without LDLR or APOB gene defects and 198 normolipidemic controls. We chose 24 markers for a detailed analysis of 8q24.22 cytoband, now based on an extended set of family members (21 individuals). One particular 24 marker haplotype was significantly associated to both higher total and low-density lipoprotein-cholesterol concentrations. Similar results were found for a shorter haplotype, composed of the distal six markers from the complete haplotype. Therefore, a presumptive new locus for ADH could be located in 8q24.22 cytoband, a region not previously linked or associated to ADH.


Assuntos
Cromossomos Humanos Par 8/genética , Hiperlipoproteinemia Tipo II/genética , Adulto , Estudos de Casos e Controles , Mapeamento Cromossômico , Feminino , Loci Gênicos , Haplótipos , Humanos , Masculino , Mutação , Linhagem
18.
Naturwissenschaften ; 98(11): 943-9, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21935675

RESUMO

Variations in the gene encoding the low-density lipoprotein receptor (LDLR) can cause familial hypercholesterolemia (FH), one of the most common inherited metabolic disorders in humans. The functional effects of the p.Gln92Glu and p.Asn564His alterations are predicted as benign, but the c.313 + 1G>C and p.Lys799_Phe801del changes are believed to cause disease. Although p.Gln92Glu and c.313 + 1G>C have been observed only in Spain, p.Asn564His and p.Lys799_Phe801del are widespread in Western Europe. In order to estimate the ages (t generations) of these four variants of the gene, to determine their possible origin and to consider the influence of age and selective pressure on their spread, we analyzed 86 healthy individuals and 126 FH patients in Spain. Most of the FH patients investigated carried two of these four LDLR variants simultaneously, while only one patient carried three of them simultaneously. Haplotype analyses were based on five LDLR SNPs: c.81T>C, c.1413G>A, c.1725C>T, c.1959T>C and c.2232G>A. The results suggest that p.Gln92Glu and c.313 + 1G>C arose at about the same time (99 and 103 generations ago, respectively) in the CACTG haplotype and that p.Asn564His and p.Lys799_Phe801del appeared in the CGCCG haplotype and might be slightly more recent variations (92 and 95 generations ago, respectively). Low selective pressures could explain the maintenance of these variants in spite of their ages. The origin of p.Gln92Glu and c.313 + 1G>C appears to be in Spain whereas p.Asn564His and p.Lys799_Phe801del could have been introduced in Spain by Celtic migrations in the seventh to fifth centuries BC.


Assuntos
Mutação , Receptores de LDL/genética , Estudos de Casos e Controles , Haplótipos , Humanos , Hiperlipoproteinemia Tipo II/genética , Polimorfismo de Nucleotídeo Único , Espanha , Fatores de Tempo
19.
Hereditas ; 148(2): 70-6, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21561451

RESUMO

Francolinus pondicerianus interpositus (grey francolin, Galliformes) is the only francolin present in the Suleiman Range (central Pakistan), one of the poorest and least developed areas in Pakistan. As a game bird, the francolin is an important income source for the region, but no demographic data are available. Therefore, the aim of this work was to study the polymorphism pattern of the Control Region gene (mitochondrial DNA, mtDNA), in order to obtain some initial information about genetic diversity, possible structure and demographic dynamics in this population. In 29 individuals captured in four sampling areas in the western and the eastern Suleiman Range, we detected nine polymorphic sites in a 511 bp fragment of the mtDNA Control Region gene, resulting in seven haplotypes. Haplotype (h = 0.818 ± 0.032) and nucleotide diversity (π % = 0.308 ± 0.210) values suggested a large population size and a low divergence among the haplotypes. AMOVA (Φ(ST) = 0.005; P = 0.352) did not detect any significant differences among the western and eastern populations; therefore, specimens of both sampled areas could be considered as drawn from a single population. The observed distribution of pairwise mismatches was bimodal, revealing significant departure from a growing-decreasing population model (P = 0.030); these results would point to a demographic equilibrium. Tribal control of hunting might provide an explanation for this situation, but future overhunting would threaten the survival of this population.


Assuntos
DNA Mitocondrial/genética , Galliformes/genética , Genética Populacional , Polimorfismo Genético , Análise de Variância , Animais , Conservação dos Recursos Naturais , Geografia , Haplótipos , Paquistão , Filogenia , Dinâmica Populacional , Análise de Sequência de DNA , Especificidade da Espécie
20.
Phytother Res ; 25(1): 25-32, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20568239

RESUMO

Aqueous extracts and a semipurified fraction obtained by methanol extraction and column chromatography were isolated from Ganoderma lucidum [Ganoderma lucidum (Curtis) P. Karst.; Ganodermataceae Donk] and their effects on interleukin 3-dependent lymphoma cells (DA-1) were studied. Cell viability was reduced by the action of unboiled aqueous extract and by the methanol-extracted column-chromatography semipurified fraction, producing DNA fragmentation in DA-1 cells. Treatments with aqueous extracts showed increments of Bax after 13 h, increments of p53 and Mdm2 after 19 h and a reduction of these three proteins after 24 h. The methanol-extracted semipurified fraction also induced increments of p53 and Mdm2 factors at 19 h with a reduction after 24 h. The methanol-extracted column-chromatography semipurified fraction from Ganoderma lucidum produced minor changes in the level of Akt after treatments for 19 h in DA-1 cells with a slight reduction in the levels of NFkB-p65 factor. Both the unboiled aqueous extract and the methanol-extracted column-chromatography semipurified fraction produced cleavage of inactive caspase 3, as a clear indication of induction of apoptosis by compounds present in Ganoderma lucidum.


Assuntos
Antineoplásicos Fitogênicos/farmacologia , Proteínas Reguladoras de Apoptose/metabolismo , Citotoxinas/farmacologia , Extratos Vegetais/farmacologia , Reishi/química , Animais , Antineoplásicos Fitogênicos/química , Apoptose/efeitos dos fármacos , Caspase 3/metabolismo , Citotoxinas/química , Citotoxinas/isolamento & purificação , Fragmentação do DNA/efeitos dos fármacos , Interleucina-3/farmacologia , Linfoma/tratamento farmacológico , Linfoma/patologia , Camundongos , Fosforilação/efeitos dos fármacos , Extratos Vegetais/química , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteínas Proto-Oncogênicas c-mdm2/metabolismo , Células Tumorais Cultivadas , Proteína Supressora de Tumor p53/metabolismo , Proteína X Associada a bcl-2/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA