RESUMO
BACKGROUND: Neck pain is common among individuals with migraine, but there is a lack of information of how this comorbidity can be associated with cervical muscle function. This controlled cross-sectional study aimed to compare cervical muscle function, activity, and sensitization in women with migraine, neck pain, both, and neither. METHODS: This study included women, between 18 and 55 years old, with either episodic migraine with or without aura, without any concomitant headache diagnosis; chronic neck pain, with at least moderate intensity and mild disability; or neither headache nor neck pain. Pain pressure threshold, allodynia, muscle strength, and endurance and cervical muscles activity were evaluated. RESULTS: One hundred subjects, with mean age of 30.4 years old, were stratified by diagnosis (n = 25 per group) and by self-reported pain during tests. Lower endurance during flexion was observed for migraine and neck pain (34s) relative to neck pain alone (45s), migraine (40s), and controls (58s) (p = 0.04). For extensor endurance, means were 142s, 166s, 215s, and 270s, respectively (p < 0.001). Endurance times were impacted by the presence of test-induced pain decreasing about 40%-53% of the performance. Diagnostic groups did not differ significantly in strength (p > 0.05), but all pain groups presented significantly higher proportion of test-induced pain, lower muscle activity during the maximal isometric voluntary contractions, and lower pressure pain thresholds. CONCLUSION: Patients with migraine, chronic neck pain, and the association of both present altered cervical muscle function and activity. Also, test-induced pain impacts significantly on neck muscles endurance. SIGNIFICANCE: The diagnosis of migraine and chronic neck pain is associated with altered function and activity of the cervical muscles. However, the test-induced pain had an important contribution to worse cervical muscle endurance. This suggests that the therapeutic approach should focus on de-sensitization of the trigeminal-cervical complex when dealing with the comorbidity of migraine and cervical pain.
Assuntos
Dor Crônica , Transtornos de Enxaqueca , Humanos , Feminino , Adulto , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Cervicalgia , Estudos Transversais , Hiperalgesia , Músculos do Pescoço , Transtornos de Enxaqueca/complicações , Cefaleia/complicaçõesRESUMO
OBJECTIVE: To assess the prevalence of falls and fear of falling in patients with migraine compared with controls. DESIGN: Cross-sectional. SETTING: Tertiary headache clinic. PARTICIPANTS: This study consisted of 105 controls and 105 consecutive patients diagnosed with migraine with aura (MA, n=35), migraine without aura (MO, n=35) and chronic migraine (CM, n=35). MAIN OUTCOME MEASURES: Patients were interviewed using a questionnaire containing questions about the history of falls and impairment in balance, and completed the International Falls Efficacy Scale (FES-I). Groups were contrasted using Student's t-test and analysis of variance, and prevalence ratios were estimated. RESULTS: Falls and self-reported impairment in balance are more prevalent in patients with migraine (54% and 69%, respectively) than in controls (2% and 2%, respectively). In particular, patients with CM and MA reported a greater mean number of falls during the previous year {CM 1.4 [standard deviation (SD) 2.2]; MA 2.2 (SD 2.3)} compared with patients with MO [0.5 (SD 1.0); P <0.04] and controls [0.05 (SD 0.2); P <0.002]. The prevalence ratio of falls was greater in patients with MA (7.2; P <0.002) and CM (4.5; P <0.002) compared with controls. Patients with migraine experienced a high level of concern about falls during their daily activities compared with controls (29.8 vs 20.1 points in the FES-I questionnaire; P<0.0001). CONCLUSIONS: The balance impairment of patients with migraine may have a functional impact. Migraine is associated with risk of falling, and patients exhibit a higher prevalence of impairment in balance, falls and fear of falling.
Assuntos
Acidentes por Quedas/estatística & dados numéricos , Medo , Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/psicologia , Equilíbrio Postural/fisiologia , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Transtornos de Enxaqueca/fisiopatologia , Prevalência , Autorrelato , Adulto JovemRESUMO
The uptake of genomic selection (GS) by the swine industry is still limited by the costs of genotyping. A feasible alternative to overcome this challenge is to genotype animals using an affordable low-density (LD) single nucleotide polymorphism (SNP) chip panel followed by accurate imputation to a high-density panel. Therefore, the main objective of this study was to screen incremental densities of LD panels in order to systematically identify one that balances the tradeoffs among imputation accuracy, prediction accuracy of genomic estimated breeding values (GEBVs), and genotype density (directly associated with genotyping costs). Genotypes using the Illumina Porcine60K BeadChip were available for 1378 Duroc (DU), 2361 Landrace (LA) and 3192 Yorkshire (YO) pigs. In addition, pseudo-phenotypes (de-regressed estimated breeding values) for five economically important traits were provided for the analysis. The reference population for genotyping imputation consisted of 931 DU, 1631 LA and 2103 YO animals and the remainder individuals were included in the validation population of each breed. A LD panel of 3000 evenly spaced SNPs (LD3K) yielded high imputation accuracy rates: 93.78% (DU), 97.07% (LA) and 97.00% (YO) and high correlations (>0.97) between the predicted GEBVs using the actual 60 K SNP genotypes and the imputed 60 K SNP genotypes for all traits and breeds. The imputation accuracy was influenced by the reference population size as well as the amount of parental genotype information available in the reference population. However, parental genotype information became less important when the LD panel had at least 3000 SNPs. The correlation of the GEBVs directly increased with an increase in imputation accuracy. When genotype information for both parents was available, a panel of 300 SNPs (imputed to 60 K) yielded GEBV predictions highly correlated (⩾0.90) with genomic predictions obtained based on the true 60 K panel, for all traits and breeds. For a small reference population size with no parents on reference population, it is recommended the use of a panel at least as dense as the LD3K and, when there are two parents in the reference population, a panel as small as the LD300 might be a feasible option. These findings are of great importance for the development of LD panels for swine in order to reduce genotyping costs, increase the uptake of GS and, therefore, optimize the profitability of the swine industry.
Assuntos
Genoma/genética , Polimorfismo de Nucleotídeo Único/genética , Suínos/genética , Animais , Cruzamento , Feminino , Genômica , Genótipo , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/veterinária , FenótipoRESUMO
Fear of movement (kinesiophobia) seems to play an important role in the development of chronic pain. However, for temporomandibular disorders (TMD), there is a scarcity of studies about this topic. The Tampa Scale for Kinesiophobia for TMD (TSK/TMD) is the most widely used instrument to measure fear of movement and it is not available in Brazilian Portuguese. The purpose of this study was to culturally adapt the TSK/TMD to Brazilian Portuguese and to assess its psychometric properties regarding internal consistency, reliability, and construct and structural validity. A total of 100 female patients with chronic TMD participated in the validation process of the TSK/TMD-Br. The intraclass correlation coefficient (ICC) was used for statistical analysis of reliability (test-retest), Cronbach's alpha for internal consistency, Spearman's rank correlation for construct validity and confirmatory factor analysis (CFA) for structural validity. CFA endorsed the pre-specified model with two domains and 12-items (Activity Avoidance - AA/Somatic Focus - SF) and all items obtained a loading factor greater than 0·4. Acceptable levels of reliability were found (ICC > 0·75) for all questions and domains of the TSK/TMD-Br. For internal consistency, Cronbach's α of 0·78 for both domains were found. Moderate correlations (0·40 < r < 0.60) were observed for 84% of the analyses conducted between TSK/TMD-Br scores versus catastrophising, depression and jaw functional limitation. TSK/TMD-Br 12 items and two-factor demonstrated sound psychometric properties (transcultural validity, reliability, internal consistency and structural validity). In such a way, the instrument can be used in clinical settings and for research purposes.
Assuntos
Dor Crônica/diagnóstico , Idioma , Medição da Dor/normas , Transtornos Fóbicos/diagnóstico , Transtornos da Articulação Temporomandibular/diagnóstico , Traduções , Adulto , Brasil , Catastrofização/diagnóstico , Catastrofização/psicologia , Dor Crônica/etiologia , Dor Crônica/psicologia , Comparação Transcultural , Feminino , Humanos , Pessoa de Meia-Idade , Movimento , Transtornos Fóbicos/psicologia , Portugal/etnologia , Psicometria , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Inquéritos e Questionários , Transtornos da Articulação Temporomandibular/complicações , Transtornos da Articulação Temporomandibular/psicologia , Adulto JovemRESUMO
Irritable bowel syndrome (IBS) is characterized by visceral hypersensitivity likely related to altered processing of sensory stimuli along the brain-gut axis. Previous neuroimaging studies demonstrated structural and functional alteration of several brain areas involved in bodily representation, e.g. the insula, in patients with IBS. By means of resting-state functional magnetic resonance imaging (rs-fMRI) we searched for alteration of functional connectivity within the network involved in self-bodily consciousness. We found significant inverse correlation between hypochondriasis assessed through a clinical questionnaire and connectivity between posterior cingulate cortex and left supramarginal gyrus, extending into the adjacent superior temporal gyrus. Moreover, we observed a significant and positive correlation between a clinical questionnaire assessing interoception and connectivity between left anterior ventral insula and two clusters located in supramarginal gyrus bilaterally.Our findings highlight an "abnormal network synchrony" reflecting functional alteration, in the absence of structural and micro-structural changes, which might represent a possible therapeutic target for Irritable Bowel Syndrome.
Assuntos
Encéfalo/fisiopatologia , Interocepção , Síndrome do Intestino Irritável/fisiopatologia , Síndrome do Intestino Irritável/psicologia , Adulto , Idoso , Conscientização , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Feminino , Humanos , Síndrome do Intestino Irritável/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Vias Neurais/diagnóstico por imagem , Vias Neurais/fisiopatologia , Testes Neuropsicológicos , Inquéritos e Questionários , Adulto JovemRESUMO
Reliable and valid metamemory measures are needed to assess subjective memory complaints that can be distinct from objective memory performance. The Multifactorial Memory Questionnaire (MMQ) evaluates dimensions of subjective memory functioning such as frequency of memory problems (Ability), affect related to memory abilities (Contentment), and strategy use in everyday life (Strategy). To examine the psychometric properties of the Italian version of the MMQ, six hundred Italian healthy individuals (aged 25-91 years) completed MMQ, a questionnaire assessing metacognition (Cognitive Failures Questionnaire, CFQ) and two batteries assessing cognitive global status (Montreal Cognitive Assessment, MoCA; Mini Mental State Examination, MMSE). MMQ was easy to administer, acceptable, and had good test-retest reliability (r for the total MMQ score 0.95), and internal consistency (Cronbach's α for the total MMQ score = 0.83). An exploratory factor analysis provided a four-factor solution: "Ability" (α = 0.99), "Contentment" (α = 0.91), "External Strategies" (α = 0.85) and "Internal Strategies" (α = 0.78) factors. MMQ total score and MMQ-Ability factor score showed good convergent validity when compared to CFQ score (r rho ≥ 0.51), whereas MMQ total score and the four MMQ factors showed good divergent validity when compared to MoCA and MMSE score (r rho ≤ 0.27). Demographic variables significantly influenced MMQ total score and most subscale scores. From the derived linear equations, we computed correction factors for raw scores and percentile distribution of adjusted scores. The Italian version of MMQ is reliable and valid to assess dimensions of metamemory in adult and elderly subjects.
Assuntos
Envelhecimento/fisiologia , Envelhecimento/psicologia , Transtornos da Memória/diagnóstico , Transtornos da Memória/psicologia , Psicometria , Inquéritos e Questionários , Adulto , Idoso , Idoso de 80 Anos ou mais , Cognição/fisiologia , Análise Fatorial , Feminino , Humanos , Itália , Masculino , Entrevista Psiquiátrica Padronizada , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Autorrelato , TraduçãoRESUMO
Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids. Progressive neurological deterioration and insurgence of symptoms like ataxia, seizure, and cognitive decline until severe dementia are pathognomonic features of the disease. Here, we studied synaptic plasticity phenomena and evaluated ERKs activation in the hippocampus of BALB/c NPC1-/- mice, a well described animal model of the disease. Our results demonstrated an impairment of both induction and maintenance of long term synaptic potentiation in NPC1-/- mouse slices, associated with the lack of ERKs phosphorylation. We then investigated the effects of Miglustat, a recent approved drug for the treatment of NPCD. We found that in vivo Miglustat administration in NPC1-/- mice was able to rescue synaptic plasticity deficits, to restore ERKs activation and to counteract hyperexcitability. Overall, these data indicate that Miglustat may be effective for treating the neurological deficits associated with NPCD, such as seizures and dementia.
Assuntos
1-Desoxinojirimicina/análogos & derivados , Inibidores Enzimáticos/farmacologia , Hipocampo/efeitos dos fármacos , Plasticidade Neuronal/efeitos dos fármacos , Doença de Niemann-Pick Tipo C/fisiopatologia , Sinapses/efeitos dos fármacos , 1-Desoxinojirimicina/farmacologia , Animais , Modelos Animais de Doenças , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Hipocampo/metabolismo , Hipocampo/fisiopatologia , Camundongos , Doença de Niemann-Pick Tipo C/metabolismo , Fosforilação/efeitos dos fármacos , Sinapses/metabolismoRESUMO
BACKGROUND: Many studies have demonstrated the presence of somatosensory modulation changes at different sites in patients with temporomandibular disorders (TMDs) using different modalities. However, the neck area, a well-know condition related to TMD, remains unexplored. OBJECTIVE: To assess the thermal pain threshold in patients with TMD and controls at cephalic and extra-cephalic areas, including the neck. METHODS: Twenty female patients with TMDs diagnosed by the Research Diagnostic Criteria for TMD (RDC/TMD) and twenty age-matched controls underwent a first interview about neck pain and disability (NDI questionnaire). A blinded evaluator assessed the thermal pain threshold for cold (CPT) and heat (HPT) stimuli in accordance with an ascending method of limits of the Quantitative Sensory Testing at the following sites: periorbital, masseter, cervical posterior and ventral forearm. The groups were compared using a t-test with α = 5%. RESULTS: Patients with TMDs reported pain at higher temperature for cold stimuli in all sites (P < 0·05) and at lower temperature for heat stimuli in the right periorbital site (P < 0·05) than controls. Pain and disability due tothis symptom were reported more often in the TMD group (P < 0·05). CONCLUSION: Patients with TMD have pain modulation changes in the neck area as well, especially for cold stimuli, associated with higher disability and a higher report of neck pain than controls. These findings reinforce the evidence regarding the relationship between TMDs and neck pain.
Assuntos
Temperatura Baixa , Temperatura Alta , Cervicalgia/fisiopatologia , Neuralgia/fisiopatologia , Medição da Dor/métodos , Transtornos da Articulação Temporomandibular/fisiopatologia , Nervo Trigêmeo/fisiopatologia , Adulto , Brasil , Avaliação da Deficiência , Feminino , Humanos , Cervicalgia/etiologia , Neuralgia/etiologia , Limiar da Dor , Transtornos da Articulação Temporomandibular/complicações , Adulto JovemRESUMO
Neck pain is the most common musculoskeletal complaint among computer office workers. There are several reports about the coexistence of neck pain and temporomandibular disorders (TMD). However, there are no studies investigating this association in the context of work involving computers. The purpose of this study was to verify the association between TMD and neck pain in computer office workers. Fifty-two female computer workers who were divided into two groups: (i) those with self-reported chronic neck pain and disability (WNP) (n = 26) and (ii) those without self-reported neck pain (WONP) (n = 26), and a control group (CG) consisting of 26 women who did not work with computers participated in this study. Clinical assessments were performed to establish a diagnosis of TMD, and craniocervical mechanical pain was assessed using manual palpation and pressure pain threshold (PPT). The results of this study showed that the WNP group had a higher percentage of participants with TMD than the WONP group (42·30% vs. 23·07%, χ(2) = 5·70, P = 0·02). PPTs in all cervical sites were significantly lower in the groups WNP and WONP compared to the CG. Regression analysis revealed TMD, neck pain and work-related factors to be good predictors of disability (R(2) = 0·93, P < 0·001). These results highlighted the importance of considering the work conditions of patients with TMD, as neck disability in computer workers is explained by the association among neck pain, TMD and unfavourable workplace conditions. Consequently, this study attempted to emphasise the importance of considering work activity for minimising neck pain-related disability.
Assuntos
Dor Crônica/fisiopatologia , Músculos do Pescoço/fisiopatologia , Cervicalgia/fisiopatologia , Doenças Profissionais/fisiopatologia , Exposição Ocupacional/prevenção & controle , Transtornos da Articulação Temporomandibular/fisiopatologia , Local de Trabalho , Adulto , Dor Crônica/diagnóstico , Dor Crônica/etiologia , Computadores/estatística & dados numéricos , Estudos Transversais , Avaliação da Deficiência , Ergonomia , Feminino , Humanos , Cervicalgia/etiologia , Doenças Profissionais/diagnóstico , Doenças Profissionais/etiologia , Medição da Dor , Projetos Piloto , Amplitude de Movimento Articular , Comportamento Sedentário , Autorrelato , Transtornos da Articulação Temporomandibular/diagnóstico , Transtornos da Articulação Temporomandibular/etiologia , Interface Usuário-ComputadorRESUMO
The Tabapuã breed is a beef cattle Brazilian breed known for its sexual precocity and desirable characteristics for tropical conditions. However, this is a newly formed breed and few studies have been conducted regarding genetic parameters and genetic trends for its reproductive traits. The objective of the present study was to estimate the genetic parameters, genetic trends, and relative selection efficiency for weaning weight adjusted to 210 d of age (W210), age at first calving (AFC), average calving interval (ACI), first calving interval (CI1), and accumulated productivity (ACP) among Tabapuã beef cattle. Pedigree data on 15,241 Tabapuã animals born between 1958 and 2011 and phenotype records from 7,340 cows born between 1970 and 2011 were supplied by the National Association of Breeders and Researchers (Associação Nacional de Criadores e Pesquisadores). Analysis through the least squares method assisted in defining the fixed effects that were considered within the models. The estimates for the genetic parameters were obtained through the REML, using a multitrait animal model. The likelihood ratio test applied for W210 was significant ( < 0.05) for the inclusion of maternal additive genetic and permanent environmental effects in the model. Genetic trends were calculated through linear regression of the EBV of the animals, according to the year of birth. The heritability estimates obtained ranged from 0.04 ± 0.03 for CI1 to 0.25 ± 0.05 for W210. The genetic correlations ranged from 0.004 ± 0.19 for W210-AFC and 0.93 ± 0.12 for ACI-CI1. The genetic trend was significant ( < 0.05) and favorable for CI1 and the maternal genetic effect of W210 and was significant ( < 0.05) and unfavorable for AFC, ACI, and ACP. The ACP could be used in the selection index to assist the breeding goal of improved productive and reproductive performance. The genetic trends indicated small and unfavorable genetic changes for AFC, ACI, and ACP in light of the recent implementation of a genetic breeding program for this breed.
Assuntos
Bovinos/genética , Reprodução/genética , Animais , Peso Corporal/genética , Cruzamento , Feminino , Modelos Lineares , Parto/genética , Fenótipo , DesmameRESUMO
BACKGROUND AND PURPOSE: Subthreshold depression (SubD) is characterized by clinically relevant depressive symptoms not meeting criteria for major depression. The possible association of SubD with subjective cognitive complaints and/or objective cognitive impairments was investigated in a sample of consecutive, non-demented Parkinson's disease (PD) outpatients. METHODS: Amongst 115 patients, SubD was identified in 30 patients, major depression in 33; 36 patients were classified as non-depressed. Enrolled patients were administered tests and questionnaires validated in PD for assessing objective and subjective cognitive dysfunctions. RESULTS: On objective cognitive measures SubD patients did not differ from non-depressed patients, whereas depressed patients achieved significantly lower scores than the other two groups. SubD and depressed patients reported more cognitive complaints than non-depressed patients. CONCLUSIONS: SubD is a non-motor aspect of PD that is not related to objective cognitive deficits but is associated with subjective cognitive complaints, thus impacting on patients' well-being.
Assuntos
Transtornos Cognitivos/etiologia , Depressão/etiologia , Doença de Parkinson/complicações , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Escalas de Graduação PsiquiátricaRESUMO
OBJECTIVE: The aim of this study was to compare the levels of reproducibility between two Faces Pain Scales (FPS) of 6 and 4 categories to the assessment of pain intensity on children with and without Temporomandibular joint and muscle pain. MATERIAL AND METHODS: A total of 29 children were recruited: 13 symptomatic (9.79 ± 1.36 years old) and 16 asymptomatic (8.69 ± 0.87 years old). One previously-trained examiner applied manual palpation to evaluate orofacial structures, and FPS to assess pain intensity. All children were initial evaluated using 6-category FPS and after 3 days using 4-category FPS. The children were assessed after a seven day time interval from initial and second sessions. Weighted Kappa coefficient was used to verify reproducibility levels. RESULTS: Similar levels of reproducibility (moderate and fair kappa values) have been verified with the application of the 6-category FPS on symptomatic and asymptomatic children. Similar results were verified using 4-category FPS on symptomatic and asymptomatic children (poor and fair kappa values). CONCLUSION: Higher levels of reproducibility were verified with the application of the 6-category FPS in both groups and considering symptomatic and asymptomatic as single group. In this way, the 6-category FPS should be preferred over the 4-category FPS to assess pain intensity on children's orofacial structures.
Assuntos
Dor Facial/diagnóstico , Medição da Dor/estatística & dados numéricos , Transtornos da Articulação Temporomandibular/diagnóstico , Síndrome da Disfunção da Articulação Temporomandibular/diagnóstico , Pontos de Referência Anatômicos/patologia , Criança , Feminino , Humanos , Masculino , Músculo Masseter/patologia , Palpação/métodos , Músculos Pterigoides/patologia , Reprodutibilidade dos Testes , Músculo Temporal/patologia , Articulação Temporomandibular/patologiaRESUMO
PURPOSE: To determine changes in orofacial pain perception in community-based children by assessing the pressure pain threshold (PPT) with an algometer and pain intensity by manual palpation (MP). METHODS: A total of 100 children from the community aged 7 to 12 years were assessed. Thirty-eight children reported pain in the orofacial region. Of these children,10 reported joint pain (GJ), 12 reported joint and muscle pain (GJMM), 5 reported muscle pain (GMM), 11 reported pain during mastication (GMAST), and 62 reported no pain. An ANOVA (p < 0.05) was used to determine the differences in pain intensity and PPT among groups. RESULTS: Significantly higher pain intensity upon MP was observed for the temporalis muscle in the GJMM, GMAST and GJ groups compared to the remaining groups. The PPT values were significantly lower in the masseter temporalis muscles, TMJ and thenar region in the GJMM group compared to the other groups. CONCLUSION: MP more accurately differentiated symptomatic subjects from symptom-free TMD subjects, and PPT values were more sensitive to the discrimination of pain in the orofacial sites assessed. In addition, the changes in perception at a larger number of sites among children reporting mixed pain may suggest the presence of a possible mechanism of central sensitization.
Assuntos
Artralgia/fisiopatologia , Dor Facial/fisiopatologia , Percepção da Dor/classificação , Transtornos da Articulação Temporomandibular/fisiopatologia , Sensibilização do Sistema Nervoso Central/fisiologia , Criança , Discriminação Psicológica/fisiologia , Feminino , Humanos , Masculino , Músculo Masseter/fisiopatologia , Mastigação/fisiologia , Percepção da Dor/fisiologia , Limiar da Dor/fisiologia , Palpação/métodos , Inquéritos e Questionários , Músculo Temporal/fisiopatologia , Síndrome da Disfunção da Articulação Temporomandibular/fisiopatologia , Tendões/fisiopatologiaRESUMO
BACKGROUND: Echolalia is a verbal disorder, defined as 'a meaningless repetition of the words of others'. It is pathological, automatic and non-intentional behaviour, often observed in a variety of neurological and psychiatric disorders and above all in autism. We assume that echolalia is an imitative behaviour that is due to difficulties in inhibiting automatic repetition as seen in patients with frontal lobe damage. Our aim is to study the occurrence of echolalia under experimental conditions to investigate the nature of the phenomenon and its relationship with the severity of autism. METHODS: Eighteen participants with autism from 17 to 36 years old were recruited; they were administrated the Vineland scale, the Observational Rating Scale of Basic Functions and the Echolalia Questionnaire. In the Echolalia Questionnaire, questions were directly addressed to the autistic subject (induced procedure) or to the subject's caregiver while the subject was free to do what he wanted (incidental procedure). The data were analysed by multivariate regressions and Pearson's correlations. RESULTS: The results showed that echolalia occurred in both experimental situations; the mean value was significantly higher in the induced procedure, but results did not support the correlation with Vineland's score in the incidental procedure. It is likely that the two situations activated different processes. In particular, echolalia was statistically higher in the induced procedure as compared with the incidental one only for subjects with low score on Vineland, but in the incidental procedure, the presence of echolalia appeared to be uninfluenced by the functional capacity of subjects. CONCLUSIONS: The two experimental conditions require different monitoring systems to control this verbal behaviour. The echolalic phenomenon is an expression of dependence on the environment and may occur in a situation in which the autistic person is participating in a communicative act and, lacking inhibitory control, repeats the other's communication rather than selecting an answer. The deficit in inhibitory control in this situation does not seem to be present in subjects with higher efficiency. Incidental echolalia reflects the inability of the subject to filter out background environmental noise, which occasionally results in environmental dependency.
Assuntos
Transtorno Autístico/psicologia , Ecolalia/psicologia , Comportamento Imitativo/fisiologia , Deficiência Intelectual/psicologia , Comportamento Verbal/fisiologia , Adolescente , Adulto , Transtorno Autístico/fisiopatologia , Comunicação , Ecolalia/fisiopatologia , Meio Ambiente , Feminino , Lobo Frontal/fisiopatologia , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Ruído , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto JovemRESUMO
Phenotypic data from female Canchim beef cattle were used to obtain estimates of genetic parameters for reproduction and growth traits using a linear animal mixed model. In addition, relationships among animal estimated breeding values (EBVs) for these traits were explored using principal component analysis. The traits studied in female Canchim cattle were age at first calving (AFC), age at second calving (ASC), calving interval (CI), and bodyweight at 420 days of age (BW420). The heritability estimates for AFC, ASC, CI and BW420 were 0.03±0.01, 0.07±0.01, 0.06±0.02, and 0.24±0.02, respectively. The genetic correlations for AFC with ASC, AFC with CI, AFC with BW420, ASC with CI, ASC with BW420, and CI with BW420 were 0.87±0.07, 0.23±0.02, -0.15±0.01, 0.67±0.13, -0.07±0.13, and 0.02±0.14, respectively. Standardised EBVs for AFC, ASC and CI exhibited a high association with the first principal component, whereas the standardised EBV for BW420 was closely associated with the second principal component. The heritability estimates for AFC, ASC and CI suggest that these traits would respond slowly to selection. However, selection response could be enhanced by constructing selection indices based on the principal components.
Assuntos
Cruzamento/normas , Bovinos/genética , Bovinos/fisiologia , Crescimento e Desenvolvimento/fisiologia , Fenótipo , Reprodução/fisiologia , Fatores Etários , Animais , Peso Corporal , Brasil , Feminino , Crescimento e Desenvolvimento/genética , Modelos Lineares , Análise de Componente Principal , Reprodução/genéticaRESUMO
We estimated genetic parameters for egg production in different periods by means of random regression models, aiming at selection based on partial egg production from a generation of layers. The production was evaluated for each individual by recording the number of eggs produced from 20 to 70 weeks of age, with partial records taken every three weeks for a total of 17 periods. The covariance functions were estimated with a random regression model by the restricted maximum likelihood method. A model composed of third-order polynomials for the additive effect, ninth-order polynomials for the permanent environment, and a residual variance structure with five distinct classes, was found to be most suitable for adjusting the egg production data for laying hens. The heritability estimates varied from 0.04 to 0.14. The genetic correlations were all positive, varying from 0.10 to 0.99. Selection applied in partial egg production periods will result in greater genetic profit for the adjacent periods. However, as the distance in time between periods increases, selection becomes less efficient. Selection based on the second period (23 to 25 weeks of age), where greater heritability was estimated, would note benefit the final egg-laying cycle periods.
Assuntos
Galinhas/genética , Modelos Genéticos , Oviposição/genética , Envelhecimento/genética , Animais , Padrões de Herança/genética , Funções Verossimilhança , Fenótipo , Análise de RegressãoRESUMO
Backfat thickness affects the preservation of the beef carcass after slaughter and confers organoleptic characteristics assessed by the consumer. One of the breeding goals for Canchim, a tropically adapted breed, is to comprehensively increase fat thickness. Our goals were to identify genomic regions associated with backfat in Canchim populations and validate the association of single nucleotide polymorphisms (SNPs) overlapping previously identified QTL regions known to affect fat deposition. Fifteen animals with lower and 15 animals with higher residues for backfat, according to a linear model using the SAS GLM procedure, were selected from a population of 1171 animals and genotyped using the BovineSNP50 BeadChip. Initial analysis revealed more than 100 SNPs that discriminated the tails of phenotypic distribution. One extended region of association included the centromeric region of chromosome (Chr) 14. Because this region overlapped with QTL from previous reports, we developed SNP assays to interrogate two linkage disequilibrium blocks, one in the centromeric region and another in the middle region of Chr 14 to confirm the association. The analysis validated the presence of specific haplotypes affecting fat thickness.
Assuntos
Tecido Adiposo/anatomia & histologia , Bovinos/anatomia & histologia , Bovinos/genética , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Tecido Adiposo/diagnóstico por imagem , Animais , Brasil , Feminino , Perfilação da Expressão Gênica , Haplótipos , Desequilíbrio de Ligação , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Locos de Características Quantitativas , UltrassonografiaRESUMO
In this study, the objective was to estimate genetic parameters of body weight at 210 (BW210) and 365 (BW365) days of age in relation to rib eye area (REA), subcutaneous back fat thickness (BF) and rump fat (RF), and their respective genetic trends, in Nelore beef cattle. Estimates of genetic parameters and breeding values for the studied traits were obtained using the REML method. The direct and maternal heritability estimates were respectively: 0.25±0.02 and 0.21±0.01, for BW210, and 0.29±0.02 and 0.09±0.01, for BW365. The heritability estimates for transformed REA, BF and RF were 0.29±0.03, 0.21±0.02 and 0.23±0.03, respectively. There were genetic associations between BW210 and REA, BW365 and REA, and BF and RF, while the other correlations were low. The selection process that was conducted at the farms participating in the breeding program, taking the proposed selection index into consideration, caused genetic changes to these traits.
Assuntos
Tecido Adiposo/metabolismo , Peso Corporal/genética , Cruzamento/métodos , Bovinos/genética , Gorduras na Dieta/análise , Carne/análise , Característica Quantitativa Herdável , Animais , Bovinos/crescimento & desenvolvimentoRESUMO
Canchim is a composite cattle breed developed in Brazil for beef production. One of the breeding objectives is to increase fat deposition. QTLs for fat thickness and/or marbling have been reported on BTA4 and BTA14. The IGFBP3 and DDEF1 genes, mapped to BTA4 and BTA14, respectively, affect adipogenesis. We looked for SNPs in the IGFBP3 and DDEF1 genes that could be associated with backfat thickness in Canchim beef cattle. For SNP identification, sires with the highest accuracy were ranked according to expected breeding value for fat thickness; the 12 extremes (six sires with the highest and six with the lowest expected breeding value for the trait) were chosen. Six regions of the IGFBP3 and 14 regions of the DDEF1 were sequenced using the Sanger method. Nine SNPs were identified in IGFBP3 and 76 in the DDEF1. After an initial analysis, two SNPs were selected to be genotyped for the whole population; these were DDEF1g.279401A>G and IGFBP3c.4394T>C(Trp>Arg). We found a significant effect (P ≤ 0.05) of allele substitution on backfat thickness; however, the IGFBP3 SNP did not significantly affect this trait.
Assuntos
Tecido Adiposo , Bovinos/genética , Polimorfismo de Nucleotídeo Único , Animais , Feminino , Masculino , Locos de Características QuantitativasRESUMO
The objective of this study was to estimate and contrast the occurrence of ictal and interictal cutaneous allodynia (CA) in individuals with migraine with and without temporomandibular disorders (TMD). Both TMD and CA are common in migraine and may be associated with migraine transformation from episodic into a chronic form. Herein we hypothesize that TMD contributes to the development of CA and to more severe headaches. In a clinic-based sample of individuals with episodic migraine, the presence of TMD was assessed using the research diagnostic criteria for myofascial or mixed (myofascial and arthralgic) TMD. Ictal CA was quantified using the validated Allodynia Symptom Checklist (ASC-12). The ASC-12 measures CA over the preceding month by asking 12 questions about the frequency of allodynia symptoms during headaches. Interictal CA was assessed in the domains of heat, cold and mechanical static allodynia using quantitative sensory testing. Our sample consists of 55 individuals; 40 (73%) had TMD (23 with myofascial TMD and 17 with the mixed type). CA of any severity (as assessed by ASC-12) occurred in 40% of those without TMD (reference group), 86.9% of those with myofascial TMD (P = 0.041, RR = 3.2, 95% CI = 1.5-7.0) and in 82.3% of those with mixed TMD (P = 0.02, RR = 2.5, 95% CI = 1.2-5.3). Individuals with TMD were more likely to have moderate or severe CA associated with their headaches. Interictally (quantitative sensory testing), thresholds for heat and mechanical nociception were significantly lower in individuals with TMD. Cold nociceptive thresholds were not significantly different in migraine patients with and without TMD. TMDs were also associated with change in extra-cephalic pain thresholds. In logistical regression, TMD remained associated with CA after adjusting for aura, gender and age. TMD and CA are associated in individuals with migraine.