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1.
Medicine (Baltimore) ; 99(35): e21468, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32871869

RESUMO

Saline is a commonly used intravenous solvent, however, its excessive infusion may increase drug-induced sodium intake. To investigate the effects of saline infusion on blood pressure variability (BPV) in patients with hypertension, a retrospective study was performed in 1010 patients with hypertension. The patients who received saline infusion before surgery for continuous 3 to 5 days were divided into 2 groups according to the saline infusion volume during the hospitalization, which are >500 mL per day group and <500 mL per day group. The overall incidence of abnormal BPV was 11.58%. As for the incidence of abnormal BPV in the <500 mL per day group with 698 patients was 9.17%, while that in the >500 mL per day group with 312 patients was as high as 16.99%. Additionally, >500 mL of daily saline infusion for continuous 3 to 5 days (P for trend = .004, odds ratio [OR] = 1.911, 95% confidence interval [CI] for OR 1.226-2.977), medical history of diabetes mellitus (P < .001, OR = 4.856, 95% CI for OR 3.118-7.563) and cardiovascular diseases (P < .001, OR = 2.498, 95% CI for OR 1.549-4.029) may be risk factors of abnormal BPV; while anti-hypertensive therapy with diuretics (P < .001, OR = 0.055, 95% CI for OR 0.024-0.125) may be the protective factor. Our study suggests that >500 mL of daily saline infusion for continuous 3 to 5 days may have disadvantages in the blood pressure control for hypertensive patients, especially for the patients with diabetes mellitus and cardiovascular diseases.


Assuntos
Variação Biológica da População/fisiologia , Pressão Sanguínea/efeitos dos fármacos , Hipertensão/epidemiologia , Solução Salina/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Pressão Sanguínea/fisiologia , Determinação da Pressão Arterial/tendências , Doenças Cardiovasculares/epidemiologia , Estudos de Casos e Controles , China/epidemiologia , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Hipertensão/tratamento farmacológico , Incidência , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/métodos , Procedimentos Ortopédicos/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Solução Salina/administração & dosagem
2.
PLoS One ; 15(8): e0235357, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32760112

RESUMO

We evaluated the between-cow (b-cow) variation and repeatability in omasal and milk fatty acids (FA) related to methane (CH4) emission. The dataset was originated from 9 studies with rumen-cannulated dairy cows conducted using either a switch-back or a Latin square design. Production of CH4 per mole of VFA (Y_CH4VFA) was calculated based on VFA stoichiometry. Experiment, diet within experiment, period within experiment, and cow within experiment were considered as random factors. Empirical models were developed between the variables of interest by univariate and bivariate mixed model regression analysis. The variation associated with diet was higher than the b-cow variation with low repeatability (< 0.25) for milk odd- and branch-chain FA (OBCFA). Similarly, for de novo synthesized milk FA, diet variation was ~ 3-fold greater than the b-cow variation; repeatability for these FA was moderate to high (0.34-0.58). Also, for both cis-9 C18:1 and cis-9 cis-12 cis-15 C18:3 diet variation was more than double the b-cow variation, but repeatability was moderate. Among the de novo milk FA, C4:0 was positively related with stoichiometric Y_CH4VFA, while for OBCFA, anteiso C15:0 and C15:0 were negatively related with it. Notably, when analyzing the relationship between omasal FA and milk FA we observed positive intercept estimates for all the OBCFA, which may indicate endogenous post-ruminal synthesis of these FA, most likely in the mammary gland. For milk iso C13:0, iso C15:0, anteiso C15:0, and C15:0 were positively influenced by omasal proportion of their respective FA and by energy balance. In contrast, the concentration of milk C17:0, iso C18:0, C18:0, cis-11 C18:1, and cis-9 cis-12 cis-15 C18:3 were positively influenced by omasal proportion of their respective FA but negatively related to calculated energy balance. Our findings demonstrate that for most milk FA examined, a larger variation is attributed to diet than b-cow differences with low to moderate repeatability. While some milk FA were positively or negatively related with Y_CH4VFA, there was a pronounced effect of calculated energy balance on these estimates. Additionally, even though OBCFA have been indicated as markers of rumen function, our results suggest that endogenous synthesis of these FA may occur, which therefore, may limit the utilization of milk FA as a proxy for CH4 predictions for cows fed the same diet.


Assuntos
Variação Biológica da População , Efeito Estufa , Lactação/fisiologia , Metano/metabolismo , Leite/química , Ração Animal , Animais , Bovinos , Indústria de Laticínios , Conjuntos de Dados como Assunto , Ácidos Graxos/análise , Feminino , Rúmen/metabolismo
3.
PLoS One ; 15(8): e0237105, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32776947

RESUMO

Studying the isotope variability in fast-growing human tissues (e.g., hair, nails) is a powerful tool to investigate human nutrition. However, interpreting the controls of this isotopic variability at the population scale is often challenging as multiple factors can superimpose on the isotopic signals of a current population. Here, we analyse carbon, nitrogen, and sulphur isotopes in hair from 590 Canadian resident volunteers along with demographics, dietary and geographic information about each participant. We use a series of machine-learning regressions to demonstrate that the isotopic values in Canadian residents' hair are not only influenced by dietary choices but by geographic controls. First, we show that isotopic values in Canadian residents' hair have a limited range of variability consistent with the homogenization of Canadian dietary habits (as in other industrialized countries). As expected, some of the isotopic variability within the population correlates with recorded individual dietary choices. More interestingly, some regional spatial patterns emerge from carbon and sulphur isotope variations. The high carbon isotope composition of the hair of eastern Canadians relative to that of western Canadians correlates with the dominance of corn in the eastern Canadian food-industry. The gradient of sulphur isotope composition in Canadian hair from coast to inland regions correlates with the increasing soil pH and decreasing deposition of marine-derived sulphate aerosols in local food systems. We conclude that part of the isotopic variability found in the hair of Canadian residents reflects the isotopic signature associated with specific environmental conditions and agricultural practices of regional food systems transmitted to humans through the high consumption rate of intra-provincial food in Canada. Our study also underscores the strong potential of sulphur isotopes as tracers of human and food provenance.


Assuntos
Variação Biológica da População , Isótopos de Carbono/análise , Cabelo/química , Isótopos de Nitrogênio/análise , Isótopos de Enxofre/análise , Adulto , Canadá , Dieta/estatística & dados numéricos , Feminino , Humanos , Masculino
4.
PLoS One ; 15(7): e0236284, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687512

RESUMO

OBJECTIVE: To investigate the frequency distribution of various craniofacial skeletal patterns in a large Korean adult obstructive sleep apnea (OSA) population, and to find a relationship between craniofacial risks and respiratory and sleep characteristics. METHODS: A total of 1226 OSA patients (mean age of 44.9±13.3 years) were included in this retrospective cross-sectional study. All subjects were evaluated for gender and age using fourteen polysomnographic, five cephalometric, two comorbid variables, and three self-reported indexes. Frequency analysis was used to screen the distribution of main skeletal patterns and subtypes. Intergroup comparisons were performed using independent t-test, chi-square test or analysis of variance. Univariable regression analysis was done to find a relationship between skeletal risks and OSA characteristics. RESULTS: The frequency distribution of skeletal patterns was as follows: sagittally 57.2%, 32.3%, and 10.5% of Class II, Class I, and Cass III; vertically 54.0%, 26.7%, and 19.3% of hyperdivergent, normodivergent, and hypodivergent type, respectively. Polysomnographic, symptomatic, and comorbid variables showed no differences among patients with different skeletal patterns. Conversely, skeletal variables showed no differences according to OSA severity. The prevalence of highly risky skeletal pattern of hyperdivergent Class II was more likely to be females (OR 4.52, P < .01) and less obese (OR 3.21, P < .01), irrelevant to OSA and sleep characteristics. CONCLUSION: Characteristic frequency distributions of skeletal patterns and subtypes were observed in adult OSA patients however, no statistical association was found between the skeletal patterns and OSA characteristics due to the large interindividual variation.


Assuntos
Cefalometria/estatística & dados numéricos , Cabeça/anatomia & histologia , Obesidade/epidemiologia , Testes de Função Respiratória/estatística & dados numéricos , Apneia Obstrutiva do Sono/epidemiologia , Adulto , Grupo com Ancestrais do Continente Asiático , Variação Biológica da População , Comorbidade , Estudos Transversais , Feminino , Cabeça/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/fisiopatologia , Polissonografia , República da Coreia/epidemiologia , Fenômenos Fisiológicos Respiratórios , Estudos Retrospectivos , Fatores de Risco , Autorrelato , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/fisiopatologia
5.
PLoS One ; 15(7): e0236494, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32706811

RESUMO

It has been suggested that the intergenerational associations in gestational age at delivery are considerably affected by temporal changes in the environmental conditions. We explored whether changing environment affects familial resemblance of gestational age at delivery. Understanding how correlation changes in different settings allows to design better studies aimed to detect genes and environmental factors involved in the parturition process. The Swedish Medical Birth Register was used to retrieve births during 1973-2012. In total, 454,433 parent-child, 2,247,062 full sibling, 405,116 maternal half-sibling and 469,995 paternal half-sibling pairs were identified. A decreasing trend in correlation, associated with increasing age gaps, was observed among all siblings, with the largest drop for full siblings, from ρ = 0.32 (95% confidence interval (CI): 0.31, 0.33) for full siblings with one-year gap to ρ = 0.16 (95% CI: 0.10, 0.22) for full siblings with age gap above 20 years. A variation in association between full siblings born up to two years apart was observed; estimate ρ = 0.28 (95% CI: 0.26, 0.3) in 1973, and ρ = 0.36 (95% CI: 0.33, 0.38) in 2012. Observed variability in the association in gestational age at delivery between the relatives with respect to their birth year or age gap suggests the existence of temporally changing environmental factors.


Assuntos
Idade Gestacional , Irmãos , Variação Biológica da População , Conjuntos de Dados como Assunto , Pai , Humanos , Mães , Sistema de Registros/estatística & dados numéricos , Suécia/epidemiologia
6.
Proc Natl Acad Sci U S A ; 117(30): 17688-17694, 2020 07 28.
Artigo em Inglês | MEDLINE | ID: mdl-32661145

RESUMO

Studies on geographic inequalities in life expectancy in the United States have exclusively focused on single-level analyses of aggregated data at state or county level. This study develops a multilevel perspective to understanding variation in life expectancy by simultaneously modeling the geographic variation at the levels of census tracts (CTs), counties, and states. We analyzed data from 65,662 CTs, nested within 3,020 counties and 48 states (plus District of Columbia). The dependent variable was age-specific life expectancy observed in each of the CTs. We also considered the following CT-level socioeconomic and demographic characteristics as independent variables: population density; proportions of population who are black, who are single parents, who are below the federal poverty line, and who are aged 25 or older who have a bachelor's degree or higher; and median household income. Of the total geographic variation in life expectancy at birth, 70.4% of the variation was attributed to CTs, followed by 19.0% for states and 10.7% for counties. The relative importance of CTs was greater for life expectancy at older ages (70.4 to 96.8%). The CT-level independent variables explained 5 to 76.6% of between-state variation, 11.1 to 58.6% of between-county variation, and 0.7 to 44.9% of between-CT variation in life expectancy across different age groups. Our findings indicate that population inequalities in longevity in the United States are primarily a local phenomenon. There is a need for greater precision and targeting of local geographies in public policy discourse aimed at reducing health inequalities in the United States.


Assuntos
Variação Biológica da População , Censos , Expectativa de Vida , Feminino , Geografia , Humanos , Masculino , Estados Unidos/epidemiologia
7.
PLoS One ; 15(7): e0235234, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32645006

RESUMO

BACKGROUND: Due to a lack of reliable reference intervals (RIs) for Kenya, we set out to determine RIs for 40 common chemistry and immunoassay tests as part of the IFCC global RI project. METHODS: Apparently healthy adults aged 18-65 years were recruited according to a harmonized protocol and samples analyzed using Beckman-Coulter analyzers. Value assigned serum panels were measured to standardize chemistry results. The need for partitioning reference values by sex and age was based on between-subgroup differences expressed as standard deviation ratio (SDR) or bias in lower or upper limits (LLs and ULs) of the RI. RIs were derived using a parametric method with/without latent abnormal value exclusion (LAVE). RESULTS: Sex-specific RIs were required for uric acid, creatinine, total bilirubin (TBil), total cholesterol (TC), ALT, AST, CK, GGT, transferrin, transferrin saturation (TfSat) and immunoglobulin-M. Age-specific RIs were required for glucose and triglyceride for both sexes, and for urea, magnesium, TC, HDL-cholesterol ratio, ALP, and ferritin for females. LAVE was effective in optimizing RIs for AST, ALT, GGT iron-markers and CRP by reducing influence of latent anemia and metabolic diseases. Thyroid profile RIs were derived after excluding volunteers with anti-thyroid antibodies. Kenyan RIs were comparable to those of other countries participating in the global study with a few exceptions such as higher ULs for TBil and CRP. CONCLUSIONS: Kenyan RIs for major analytes were established using harmonized protocol from well-defined reference individuals. Standardized RIs for chemistry analytes can be shared across sub-Saharan African laboratories with similar ethnic and life-style profile.


Assuntos
Variação Biológica da População , Análise Química do Sangue/normas , Imunoensaio/normas , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Análise Química do Sangue/estatística & dados numéricos , Interpretação Estatística de Dados , Feminino , Voluntários Saudáveis , Humanos , Imunoensaio/estatística & dados numéricos , Quênia , Masculino , Pessoa de Meia-Idade , Padrões de Referência , Valores de Referência , Fatores Sexuais , Adulto Jovem
8.
PLoS One ; 15(6): e0234994, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32598370

RESUMO

Estuaries are characterized by high fluctuation of their environmental conditions. Environmental parameters measured show that the seawater properties of the Quempillén estuary (i.e. temperature, salinity, pCO2, pH and ΩCaCO3) were highly fluctuating and related with season and tide. We test the effects of increasing temperature and pCO2 in the seawater on the physiological energetics of the bivalve Ostrea chilensis. Juvenile oysters were exposed to an orthogonal combination of three temperatures (10, 15, and 20°C) and two pCO2 levels (~400 and ~1000 µatm) for a period of 60 days to evaluate the temporal effect (i.e. 10, 20, 30, 60 days) on the physiological rates of the oysters. Results indicated a significant effect of temperature and time of exposure on the clearance rate, while pCO2 and the interaction between pCO2 and the other factors studied did not show significant effects. Significant effects of temperature and time of exposure were also observed on the absorption rate, but not the pCO2 nor its interaction with other factors studied. Oxygen consumption was significantly affected by pCO2, temperature and time. Scope for growth was only significantly affected by time; despite this, the highest values were observed for individuals subject to to 20°C and to ~1000 µatm pCO2. In this study, Ostrea chilensis showed high phenotypic plasticity to respond to the high levels of temperature and pCO2 experienced in its habitat as no negative physiological effects were observed. Thus, the highly variable conditions of this organism's environment could select for individuals that are more resistant to future scenarios of climate change, mainly to warming and acidification.


Assuntos
Aclimatação , Variação Biológica da População , Exposição Ambiental/efeitos adversos , Ostrea/fisiologia , Água do Mar/química , Animais , Dióxido de Carbono/análise , Dióxido de Carbono/metabolismo , Chile , Mudança Climática , Temperatura Alta/efeitos adversos , Concentração de Íons de Hidrogênio , Consumo de Oxigênio , Salinidade
9.
Neurology ; 95(1): e70-e78, 2020 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-32487712

RESUMO

OBJECTIVES: The predominance of extramuscular manifestations (e.g., skin rash, arthralgia, interstitial lung disease [ILD]) as well as the low frequency of muscle signs in anti-melanoma differentiation-associated gene 5 antibody-positive (anti-MDA5+) dermatomyositis caused us to question the term myositis-specific antibody for the anti-MDA5 antibody, as well as the homogeneity of the disease. METHODS: To characterize the anti-MDA5+ phenotype, an unsupervised analysis was performed on anti-MDA5+ patients (n = 83/121) and compared to a group of patients with myositis without anti-MDA5 antibody (anti-MDA5-; n = 190/201) based on selected variables, collected retrospectively, without any missing data. RESULTS: Within anti-MDA5+ patients (n = 83), 3 subgroups were identified. One group (18.1%) corresponded to patients with a rapidly progressive ILD (93.3%; p < 0.0001 across all) and a very high mortality rate. The second subgroup (55.4%) corresponded to patients with pure dermato-rheumatologic symptoms (arthralgia; 82.6%; p < 0.01) and a good prognosis. The third corresponded to patients, mainly male (72.7%; p < 0.0001), with severe skin vasculopathy, frequent signs of myositis (proximal weakness: 68.2%; p < 0.0001), and an intermediate prognosis. Raynaud phenomenon, arthralgia/arthritis, and sex permit the cluster appurtenance (83.3% correct estimation). Nevertheless, an unsupervised analysis confirmed that anti-MDA5 antibody delineates an independent group of patients (e.g., dermatomyositis skin rash, skin ulcers, calcinosis, mechanic's hands, ILD, arthralgia/arthritis, and high mortality rate) distinct from anti-MDA5- patients with myositis. CONCLUSION: Anti-MDA5+ patients have a systemic syndrome distinct from other patients with myositis. Three subgroups with different prognosis exist.


Assuntos
Variação Biológica da População , Dermatomiosite/classificação , Dermatomiosite/imunologia , Helicase IFIH1 Induzida por Interferon/imunologia , Adulto , Autoanticorpos/imunologia , Autoantígenos/imunologia , Dermatomiosite/complicações , Feminino , Humanos , Pneumopatias/etiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Doenças Reumáticas/etiologia , Doenças Vasculares/etiologia
11.
JAMA Netw Open ; 3(5): e204040, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32356886

RESUMO

Importance: Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carriers of the D4Z4 reduced allele (DRA). Objective: To investigate the clinical expression of FSHD in the genetic subgroup of carriers of a DRA with 7 to 8 repeat units (RUs). Design, Setting, and Participants: This multicenter cross-sectional study included 422 carriers of DRA with 7 to 8 RUs (187 unrelated probands and 235 relatives) from a consecutive sample of 280 probands and 306 relatives from the Italian National Registry for FSHD collected between 2008 and 2016. Participants were evaluated by the Italian Clinical Network for FSHD, and all clinical and molecular data were collected in the Italian National Registry for FSHD database. Data analysis was conducted from January 2017 to June 2018. Main Outcomes and Measures: The phenotypic classification of probands and relatives was obtained by applying the Comprehensive Clinical Evaluation Form which classifies patients in the 4 following categories: (1) participants presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1-A3), (2) participants with muscle weakness limited to scapular girdle or facial muscles (category B, subcategories B1 and B2), (3) asymptomatic or healthy participants (category C, subcategories C1 and C2), and (4) participants with myopathic phenotypes presenting clinical features not consistent with FSHD canonical phenotype (category D, subcategories D1 and D2). Results: A total of 187 probands (mean [SD] age at last neurological examination, 53.5 [15.2] years; 103 [55.1%] men) and 235 relatives (mean [SD] age at last neurologic examination, 45.1 [17.0] years; 104 [44.7%] men) with a DRA with 7 to 8 RUs and a molecular diagnosis of FSHD were evaluated. Of 187 probands, 99 (52.9%; 95% CI, 45.7%-60.1%) displayed the classic FSHD phenotype, whereas 86 (47.1%; 95% CI, 39.8%-54.3%) presented incomplete or atypical phenotypes. Of 235 carrier relatives from 106 unrelated families, 124 (52.8%; 95% CI, 46.4%-59.7%) had no motor impairment, whereas a small number (38 [16.2%; 95% CI, 9.8%-23.1%]) displayed the classic FSHD phenotype, and 73 (31.0%; 95% CI, 24.7%-38.0%) presented with incomplete or atypical phenotypes. In 37 of 106 families (34.9%; 95% CI, 25.9%-44.8%), the proband was the only participant presenting with a myopathic phenotype, while only 20 families (18.9%; 95% CI, 11.9%-27.6%) had a member with autosomal dominant FSHD. Conclusions and Relevance: This study found large phenotypic variability associated with individuals carrying a DRA with 7 to 8 RUs, in contrast to the indication that a positive molecular test is the only determining aspect for FSHD diagnosis. These findings suggest that carriers of a DRA with 7 to 8 RUs constitute a genetic subgroup different from classic FSHD. Based on these results, it is recommended that clinicians use the Comprehensive Clinical Evaluation Form for clinical classification and, whenever possible, study the extended family to provide the most adequate clinical management and genetic counseling.


Assuntos
Distrofia Muscular Facioescapuloumeral/genética , Adulto , Alelos , Variação Biológica da População , Estudos Transversais , Grupo com Ancestrais do Continente Europeu/genética , Família , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Linhagem , Sistema de Registros
12.
PLoS One ; 15(5): e0230141, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32413036

RESUMO

Comparative severity assessment of animal models and experimental interventions is of utmost relevance for harm-benefit analysis during ethical evaluation, an animal welfare-based model prioritization as well as the validation of refinement measures. Unfortunately, there is a lack of evidence-based approaches to grade an animal's burden in a sensitive, robust, precise, and objective manner. Particular challenges need to be considered in the context of animal-based neuroscientific research because models of neurological disorders can be characterized by relevant changes in the affective state of an animal. Here, we report about an approach for parameter selection and development of a composite measure scheme designed for precise analysis of the distress of animals in a specific model category. Data sets from the analysis of several behavioral and biochemical parameters in three different epilepsy models were subjected to a principal component analysis to select the most informative parameters. The top-ranking parameters included burrowing, open field locomotion, social interaction, and saccharin preference. These were combined to create a composite measure scheme (CMS). CMS data were subjected to cluster analysis enabling the allocation of severity levels to individual animals. The results provided information for a direct comparison between models indicating a comparable severity of the electrical and chemical post-status epilepticus models, and a lower severity of the kindling model. The new CMS can be directly applied for comparison of other rat models with seizure activity or for assessment of novel refinement approaches in the respective research field. The respective online tool for direct application of the CMS or for creating a new CMS based on other parameters from different models is available at https://github.com/mytalbot/cms. However, the robustness and generalizability needs to be further assessed in future studies. More importantly, our concept of parameter selection can serve as a practice example providing the basis for comparable approaches applicable to the development and validation of CMS for all kinds of disease models or interventions.


Assuntos
Modelos Animais de Doenças , Epilepsia/fisiopatologia , Software , Animais , Variação Biológica da População , Epilepsia/patologia , Feminino , Excitação Neurológica , Locomoção , Ratos , Ratos Sprague-Dawley , Comportamento Social , Comportamento Espacial
13.
PLoS One ; 15(5): e0233389, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32428046

RESUMO

The oriental red spider mite, Eutetranychus orientalis (Klein) is a major pest of citrus in many countries including Saudi Arabia (SA). The morphological variations among the different populations of E. orientalis were reported. In the present study, phenotypic variations based on 40 different morphological characteristics were evaluated in 10 E. orientalis populations collected from different hosts and regions of SA. Further, ITS2-rDNA sequences were used to confirm the identity of these phenotypically varying populations. Phenotypic variations in all populations were found in the shape and length of dorsal setae, striation pattern between setae d1 and e1, and leg chaetotaxy. The rDNA sequence analysis of these morphologically varying populations resulted in 10 different ITS2 Saudi haplotypes. The phenotypic and genetic variations were more related to the host plants rather than their geographic distribution. The E. orientalis population collected from Phoenix dactylifera was phenotypically distinct and genetically divergent. The populations collected from citrus species were also more phenotypically and genetically related to each other than to populations collected from non-citrus host plants. The haplotypes recovered from Ziziphus sp., Morus sp., and Azadirecta indica from different regions were grouped in the same sub-clade. Further, the ITS2 haplotypes of Saudi E. orientalis recovered from Citrus reticulata from Riyadh and Al Ula were 100% identical to the ITS2 haplotypes recovered from Citrus sp. from Israel. It is concluded that phenotypic variations exist among different populations of E. orientalis inhabiting different host plants. This species should be identified carefully by considering phenotypic intraspecific variations.


Assuntos
Variação Biológica da População , Variação Genética , Tetranychidae/genética , Animais , Citrus/parasitologia , DNA Ribossômico/genética , Haplótipos , Israel , Doenças das Plantas/parasitologia , Arábia Saudita , Análise de Sequência de DNA , Tetranychidae/anatomia & histologia
14.
Biol Bull ; 238(2): 106-118, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32412840

RESUMO

Daylength is a major environmental condition that varies seasonally and predictably along a latitudinal cline, where higher latitudes exhibit greater ranges in total daylengths. Generally, the circadian clock acts as a network of genes whose expression dynamics are known to control daily rhythms in response to daylength, and it enables the control of many physiological processes such as growth and development. While well studied in many model animals, the influence of daylength variation on phenotypic evolution is poorly examined in marine species. In this study we demonstrate that two allopatric populations of the intertidal crustacean Tigriopus californicus exhibit plastic and divergent phenotypic responses to changes in daylength. Using common-garden experiments, we discovered that shorter daylengths promoted decreased adult body size and faster growth rates in the two divergent populations, suggesting a plastic response to shortened days. In addition, the higher-latitude population exhibited a faster growth rate at any daylength condition, indicating a fixed response, possibly as a result of adaptation to respective natural light regimes. Gene expression profiles of several circadian clock genes, monitored throughout the day by quantitative polymerase chain reaction, revealed that the key core clock genes reach higher daily transcription maxima in the southern population compared to the northern population, pointing to divergent strategies used to respond to changes in daylength. Many modifier genes to the circadian clock showed similar plastic responses to the different daylengths, supporting the existence of at least some conserved gene expression across both populations. Ultimately, our results suggest that photoperiod and daylength exert a potent selective pressure underexplored in marine systems and warranting further future research.


Assuntos
Relógios Circadianos , Copépodes , Animais , Variação Biológica da População , Ritmo Circadiano , Fotoperíodo , Estações do Ano
16.
Jpn J Clin Oncol ; 50(6): 635-642, 2020 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-32372090

RESUMO

BACKGROUND: Regular endoscopic surveillance for Lynch syndrome is reported to reduce colorectal cancer (CRC)-related mortality. However, the appropriate surveillance intervals are still unclear. We evaluated the adequacy of annual colonoscopy and investigated the differences in tumor occurrence rates between individual patients. METHODS: In total, 25 patients with Lynch syndrome who underwent colonoscopic surveillance between 2007 and 2016 at the Iwakuni Clinical Center were included. We retrospectively investigated the surveillance frequency and the clinical features associated with tumor development. RESULTS: Colonoscopic surveillance was performed every 397 days on average. A total of 101 tumors, including 8 intramucosal carcinomas and 15 carcinomas, were observed within the study period. Annual colonoscopy detected six malignancies, including a carcinoma requiring surgery. Tumor incidence was associated with tumor existence in the initial colonoscopies (P = 0.018). Patients with a tumor occurrence rate of 0.4 tumors per year during our observation period were significantly more likely to have malignancies detected during regular surveillance than patients who had a lower occurrence rate (P < 0.001). Malignancy occurrence rate was strongly associated with tumor occurrence rate (P < 0.001, R2 = 0.44). CONCLUSIONS: Annual colonoscopic surveillance for Lynch syndrome patients was effective in reducing the risk of CRC progression, but was insufficient to completely avoid surgery. Because the tumor occurrence rate differed substantially between individuals, more intensive surveillance was required for high-risk patients.


Assuntos
Variação Biológica da População , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/diagnóstico , Adulto , Idoso , Colonoscopia , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/etiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais Hereditárias sem Polipose/complicações , Feminino , Humanos , Incidência , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Mutação , Estudos Retrospectivos
17.
Neurology ; 94(19): e2005-e2013, 2020 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-32277059

RESUMO

OBJECTIVE: To determine if survival and cognitive profile is affected by initial presentation in amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) (motor vs cognitive), we compared survival patterns in ALS-FTD based on initial phenotypic presentation and their cognitive profile compared to behavioral variant FTD (bvFTD). METHODS: Cognitive/behavioral profiles were examined in 98 patients (59 ALS-FTD and 39 bvFTD). The initial presentation of ALS-FTD was categorized into either motor or cognitive. Survival was calculated from initial symptom onset. MRI brain atrophy patterns were examined using a validated visual rating scale. RESULTS: In the ALS-FTD group, 41 (69%) patients were categorized as having an initial cognitive presentation and 18 (31%) a motor presentation. Patients with motor presentation experienced a significantly shorter median survival of 2.7 years compared to 4.4 years (p < 0.001) in those with a cognitive presentation. No differences between motor vs cognitive onset ALS-FTD were found on cognitive testing. When compared to bvFTD, ALS-FTD-cognitive presentation was characterized by reduced language function (p < 0.001), verbal fluency (p = 0.001), and naming (p = 0.007). Both motor and cognitive onset ALS-FTD showed reduced emotion processing (p = 0.01) and exhibited greater motor cortex and dorsal lateral prefrontal cortex atrophy than bvFTD. Increased motor cortex atrophy was associated with 1.5-fold reduction in survival. CONCLUSIONS: Initial motor presentation in ALS-FTD leads to faster progression than in those with a cognitive presentation, despite similar overall cognitive deficits. These findings suggest that disease progression in ALS-FTD may be critically linked to physiologic and motor changes.


Assuntos
Esclerose Amiotrófica Lateral/psicologia , Variação Biológica da População , Transtornos Cognitivos/diagnóstico , Demência Frontotemporal/psicologia , Análise de Sobrevida , Esclerose Amiotrófica Lateral/complicações , Esclerose Amiotrófica Lateral/diagnóstico , Esclerose Amiotrófica Lateral/patologia , Atrofia/complicações , Transtornos Cognitivos/complicações , Transtornos Cognitivos/patologia , Feminino , Demência Frontotemporal/complicações , Demência Frontotemporal/diagnóstico , Demência Frontotemporal/patologia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Córtex Motor/patologia , Neuroimagem , Testes Neuropsicológicos , Córtex Pré-Frontal/patologia
18.
Nat Genet ; 52(5): 534-540, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32284578

RESUMO

Structural variants and presence/absence polymorphisms are common in plant genomes, yet they are routinely overlooked in genome-wide association studies (GWAS). Here, we expand the type of genetic variants detected in GWAS to include major deletions, insertions and rearrangements. We first use raw sequencing data directly to derive short sequences, k-mers, that mark a broad range of polymorphisms independently of a reference genome. We then link k-mers associated with phenotypes to specific genomic regions. Using this approach, we reanalyzed 2,000 traits in Arabidopsis thaliana, tomato and maize populations. Associations identified with k-mers recapitulate those found with SNPs, but with stronger statistical support. Importantly, we discovered new associations with structural variants and with regions missing from reference genomes. Our results demonstrate the power of performing GWAS before linking sequence reads to specific genomic regions, which allows the detection of a wider range of genetic variants responsible for phenotypic variation.


Assuntos
Genoma de Planta/genética , Polimorfismo de Nucleotídeo Único/genética , Variação Biológica da População , Estudo de Associação Genômica Ampla/métodos , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Lycopersicon esculentum/genética , Fenótipo , Análise de Sequência de DNA/métodos , Zea mays/genética
19.
Environ Pollut ; 263(Pt A): 114450, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32283454

RESUMO

Pharmaceutical pollution is now recognised as a major emerging agent of global change. Increasingly, pharmaceutical pollutants are documented to disrupt ecologically important physiological and behavioural traits in exposed wildlife. However, little is known about potential impacts of pharmaceutical exposure on among-individual variation in these traits, despite phenotypic diversity being critical for population resilience to environmental change. Furthermore, although wildlife commonly experience multiple stressors contemporaneously, potential interactive effects between pharmaceuticals and biological stressors-such as predation threat-remain poorly understood. To redress this, we investigated the impacts of long-term exposure to the pervasive pharmaceutical pollutant fluoxetine (Prozac®) on among-individual variation in metabolic and behavioural traits, and the combined impacts of fluoxetine exposure and predation threat on mean metabolic and behavioural traits in a freshwater fish, the guppy (Poecilia reticulata). Using a mesocosm system, guppy populations were exposed for 15 months to one of two field-realistic levels of fluoxetine (nominal concentrations: 30 and 300 ng/L) or a solvent control. Fish from these populations were then tested for metabolic rate (oxygen uptake) and behaviour (activity), both before and after experiencing one of three levels of a predation treatment: an empty tank, a non-predatory fish (Melanotaenia splendida) or a predatory fish (Leiopotherapon unicolor). Guppies from both fluoxetine treatments had ∼70% lower among-individual variation in their activity levels, compared to unexposed fish. Similarly, fluoxetine exposure at the higher dosage was associated with a significant (26%) reduction in individual-level variation in oxygen uptake relative to unexposed fish. In addition, mean baseline metabolic rate was disrupted in low-fluoxetine exposed fish, although mean metabolic and behavioural responses to predation threat were not affected. Overall, our study demonstrates that long-term exposure to a pervasive pharmaceutical pollutant alters ecologically relevant traits in fish and erodes among-individual variability, which may be detrimental to the stability of contaminated populations globally.


Assuntos
Poluentes Ambientais , Poecilia , Poluentes Químicos da Água , Animais , Variação Biológica da População , Fluoxetina
20.
Doc Ophthalmol ; 141(1): 89-97, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32048102

RESUMO

BACKGROUND: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ERCC6/CSB or ERCC8/CSA genes. Here, we describe two sisters with Cockayne syndrome caused by compound heterozygous mutations in the ERCC8 gene using multimodal imaging. Significant ophthalmic and systemic phenotypic variability is discussed. MATERIALS AND METHODS: Multimodal imaging was performed in two affected sisters and included electroretinography, optical coherence tomography, ultra-wide-field confocal scanning laser ophthalmoscopy, fundus autofluorescence and fluorescein angiography, and magnetic resonance imaging. Genetic analyses were performed on the affected sisters, both parents, and three unaffected siblings. RESULTS: The older sister (Patient 1) had mental retardation, bilateral hearing loss, ataxia, and decreased visual acuity with retinal dystrophy. Radiographic studies revealed microcephaly, cerebral and cerebellar atrophy, ventriculomegaly, and a diffusely thickened skull. Full-field electroretinography waveforms were severely diminished with attenuation of cone and rod responses. The younger sister (Patient 2) had similar clinical features, including ataxia, bilateral hearing loss, and decreased visual acuity with retinal dystrophy. She also had paranoid schizophrenia. Wide-field fundus autofluorescence showed scattered areas of retinal pigment epithelium atrophy, which was different from her sister. Genetic analysis revealed two mutations in the ERCC8 gene shared by the sisters. These include an unreported missense point mutation: p.Thr328Ser:c.983C > G, and another previously reported pathogenic missense mutation: p.Ala205Pro:c.613G > C. Familial testing showed in trans segregation of these mutations with unaffected siblings inheriting one or neither mutation, but not both. CONCLUSION: The clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in the ERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.


Assuntos
Síndrome de Cockayne/genética , Enzimas Reparadoras do DNA/genética , Mutação de Sentido Incorreto/genética , Fatores de Transcrição/genética , Adulto , Variação Biológica da População , Síndrome de Cockayne/diagnóstico , Eletrorretinografia , Feminino , Angiofluoresceinografia , Humanos , Imagem por Ressonância Magnética , Imagem Multimodal , Células Fotorreceptoras Retinianas Cones/patologia , Distrofias Retinianas/genética , Irmãos , Tomografia de Coerência Óptica
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