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Spatiotemporal patterns of phenology may be affected by mosaics of environmental and genetic variation. Environmental drivers may have temporally lagged impacts, but patterns and mechanisms remain poorly known. We combine multiple genomic, remotely sensed, and physically modeled datasets to determine the spatiotemporal patterns and drivers of canopy phenology in quaking aspen, a widespread clonal dioecious tree species with diploid and triploid cytotypes. We show that over 391 km2 of southwestern Colorado: greenup date, greendown date, and growing season length vary by weeks and differ across sexes, cytotypes, and genotypes; phenology has high phenotypic plasticity and heritabilities of 31-61% (interquartile range); and snowmelt date, soil moisture, and air temperature predict phenology, at temporal lags of up to 3 yr. Our study shows that lagged environmental effects are needed to explain phenological variation and that the effect of cytotype on phenology is obscured by its correlation with topography. Phenological patterns are consistent with responses to multiyear accumulation of carbon deficit or hydraulic damage.
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Populus , Populus/genética , Clima , Estações do Ano , Árvores/genética , Carbono , Temperatura , Mudança ClimáticaRESUMO
The E3 ubiquitin ligase X-linked inhibitor of apoptosis (XIAP) acts as a molecular rheostat for the immune deficiency (IMD) pathway of the tick Ixodes scapularis How XIAP activates the IMD pathway in response to microbial infection remains ill defined. Here, we identified the XIAP enzymatic substrate p47 as a positive regulator of the I. scapularis IMD network. XIAP polyubiquitylates p47 in a lysine 63-dependent manner and interacts with the p47 ubiquitin-like (UBX) module. p47 also binds to Kenny (IKKγ/NEMO), the regulatory subunit of the inhibitor of nuclear factor (NF)- κB kinase complex. Replacement of the amino acid lysine to arginine within the p47 linker region completely abrogated molecular interactions with Kenny. Furthermore, mitigation of p47 transcription levels through RNA interference in I. scapularis limited Kenny accumulation, reduced phosphorylation of IKKß (IRD5), and impaired cleavage of the NF-κB molecule Relish. Accordingly, disruption of p47 expression increased microbial colonization by the Lyme disease spirochete Borrelia burgdorferi and the rickettsial agent Anaplasma phagocytophilum Collectively, we highlight the importance of ticks for the elucidation of paradigms in arthropod immunology. Manipulating immune signaling cascades within I. scapularis may lead to innovative approaches to reducing the burden of tick-borne diseases.
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Ixodes/imunologia , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/fisiologia , Anaplasma , Animais , Proteínas de Artrópodes/metabolismo , Proteínas de Artrópodes/fisiologia , Borrelia burgdorferi , Drosophila , Técnicas de Inativação de Genes , Ixodes/microbiologia , Ixodes/fisiologia , NF-kappa B/metabolismo , Domínios Proteicos , Proteínas Inibidoras de Apoptose Ligadas ao Cromossomo X/metabolismo , Proteínas Inibidoras de Apoptose Ligadas ao Cromossomo X/fisiologiaRESUMO
OBJECTIVES: In 2015, the Georgia (US) legislature implemented a gestational limit, or "ban" on abortion at or beyond 22 weeks from the last menstrual period. In this study, we qualitatively examined abortion provider perspectives on the ban's impact on abortion care access and provision. STUDY DESIGN: Between May 2018 and September 2019, we conducted in-depth individual interviews with 20 abortion providers (clinicians, staff, and administrators) from four clinics in Georgia. Interviews explored perceptions of and experiences with the ban and its effects on abortion care. Team members coded transcripts to 100% agreement using an iterative, group consensus process, and conducted a thematic analysis. RESULTS: Participants reported strict adherence to the ban and also its negative consequences: additional labor plus service-delivery restrictions, legally constructed risks for providers, intrusion into the provider-patient relationship, and impact of limited services felt by patients and, thus, providers. Participants commonly mentioned disparities in the ban's impact and viewed the ban as disproportionately affecting people of color, those experiencing financial insecurity, and those with underlying medical conditions. Nonetheless, participants described a clear, unrelenting commitment to providing quality patient-centered care and dedication to and satisfaction in their work. CONCLUSIONS: Georgia's ban operates as legislative interference, adversely affecting the provision of quality, patient-centered abortion care, despite providers' resilience and commitment. These experiences in Georgia have timely and clear implications for the entire country following the Supreme Court's decision to overturn Roe v Wade, thus reducing care access and increasing negative health and social consequences and inequities for patients and communities on a national scale. IMPLICATIONS: Our findings from Georgia (US) indicate an urgent need for coordinated efforts to challenge the Dobbs v Jackson Women's Health Organization decision and for proactive policies that protect access to later abortion care. Research that identifies strategies for supporting providers and patients faced with continuing restrictive legal environments is warranted.
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Aborto Induzido , Aborto Legal , Gravidez , Feminino , Humanos , Georgia , ConsensoRESUMO
Introduction: Thirty-seven states require minors seeking abortion to involve a parent, either through notification or consent. Little research has examined how implementation of these laws affect service delivery and quality of care for those who involve a parent. Methods: Between May 2018 and September 2019, in-depth interviews were conducted with 34 staff members involved in scheduling, counseling, and administration at abortion facilities in three Southeastern states. Interviews explored procedures for documenting parental involvement, minors' and parents' reactions to requirements, and challenges with implementation and compliance. Both inductive and deductive codes, informed by the Institute of Medicine's healthcare quality framework, were used in the thematic analysis. Results: Parental involvement laws adversely affected four quality care domains: efficiency, patient-centeredness, timeliness, and equity. Administrative inefficiencies stemmed from the extensive documentation needed to prove an adult's relationship to a minor, increasing the time and effort needed to comply with state reporting requirements. If parents were not supportive of their minor's decision, participants felt they had a duty to intervene to ensure the minor's decision and needs remained centered. Staff further noted that delays to timely care accumulated as minors navigated parental involvement and other state mandates, pushing some beyond gestational age limits. Lower income families and those with complex familial arrangements had greater difficulty meeting state requirements. Conclusions: Parental involvement mandates undermine health service delivery and quality for minors seeking abortion services in the Southeast. Policy Implications: Removing parental involvement requirements would protect minors' reproductive autonomy and support the provision of equitable, patient-centered healthcare.
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BACKGROUND: We report two pediatric cases of anticholinergic toxidrome, including the youngest reported to date, in which standard therapeutic strategies were either contraindicated or ineffective, while treatment with dexmedetomidine was rapidly efficacious with no adverse effects. Moreover, with the recent shortage of physostigmine, we highlight an alternative treatment in this clinical setting. Case Summaries. In case 1, a two-year-old had an overdose presenting with an anticholinergic toxidrome. However, his hypopnea precluded the use of benzodiazepines due to the high likelihood of intubation. In case 2, a 14-year-old had a polypharmacy overdose inducing agitated delirium that was refractory to high-dose benzodiazepines. Due to the unknown ingestion, physostigmine was avoided. In both cases, dexmedetomidine helped the patient remain calm and metabolize the ingestions. CONCLUSION: Our experience suggests that dexmedetomidine may be a useful adjunct in anticholinergic presentations in the setting of polypharmacy, when standard therapy is proven ineffective, contraindicated, or unavailable.
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Extracellular vesicles are thought to facilitate pathogen transmission from arthropods to humans and other animals. Here, we reveal that pathogen spreading from arthropods to the mammalian host is multifaceted. Extracellular vesicles from Ixodes scapularis enable tick feeding and promote infection of the mildly virulent rickettsial agent Anaplasma phagocytophilum through the SNARE proteins Vamp33 and Synaptobrevin 2 and dendritic epidermal T cells. However, extracellular vesicles from the tick Dermacentor andersoni mitigate microbial spreading caused by the lethal pathogen Francisella tularensis. Collectively, we establish that tick extracellular vesicles foster distinct outcomes of bacterial infection and assist in vector feeding by acting on skin immunity. Thus, the biology of arthropods should be taken into consideration when developing strategies to control vector-borne diseases.
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Infecções Bacterianas/imunologia , Infecções Bacterianas/metabolismo , Vesículas Extracelulares/metabolismo , Pele/parasitologia , Carrapatos/metabolismo , Carrapatos/microbiologia , Anaplasma phagocytophilum/patogenicidade , Animais , Artrópodes/metabolismo , Artrópodes/microbiologia , Artrópodes/fisiologia , Linhagem Celular , Dermacentor/metabolismo , Dermacentor/microbiologia , Dermacentor/fisiologia , Vesículas Extracelulares/ultraestrutura , Francisella tularensis/patogenicidade , Ontologia Genética , Humanos , Inflamação/imunologia , Inflamação/metabolismo , Inflamação/parasitologia , Microscopia Intravital , Ixodes/metabolismo , Ixodes/microbiologia , Ixodes/fisiologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Microscopia Eletrônica de Transmissão , Proteômica , Proteínas R-SNARE/metabolismo , Pele/imunologia , Pele/microbiologia , Linfócitos T/metabolismo , Espectrometria de Massas em Tandem , Proteína 2 Associada à Membrana da Vesícula/metabolismoRESUMO
OBJECTIVE: The objective was to compare abortion patients' expectations and preferences for care with their experiences accessing services in Louisiana where there are numerous restrictive abortion laws. STUDY DESIGN: Between June 2018 and January 2019, we conducted in-depth interviews with 35 English-speaking Louisiana residents who wereâ¯≥ 18â¯years of age and seeking care from the three in-state facilities to explore their perspectives and experiences locating, obtaining and paying for abortion services. We analyzed interview transcripts using a theme-based approach and categorized themes into dimensions of health care access: availability/accessibility, accommodation, acceptability and affordability. RESULTS: Participants were surprised to learn that there were so few facilities providing abortion, which required some of them to drive between 1 and 3 h to the nearest clinic. Many were unable to schedule their visits at a convenient time or obtain care as early in pregnancy as desired because the next available appointment was often a week or more away. Protestor activity and congested waiting rooms did not provide most patients their desired level of privacy, but participants expressed diverse views about other approaches to care that would maintain their confidentiality. To pay for an unplanned health care expense that was not covered by insurance, many participants deferred paying monthly bills and borrowed money, which contributed to financial hardships and additional delays in care. CONCLUSIONS: Many Louisiana abortion patients' expectations and preferences for care are not being met across multiple dimensions of health care access assessed in this study, and the state's highly regulated policy environment may limit options for tailoring services to patients' needs. IMPLICATIONS: Abortion patients in Louisiana value accessible, timely, private and affordable services, but a constrained network of providers and medically unnecessary requirements make it difficult for them to obtain patient-centered care. Federal- and state-level policy changes, as well as local initiatives, could ensure abortion patients have access to quality, evidence-based services.
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BACKGROUND: Circulating tumors cells (CTCs) are considered an early step towards metastasis and have been linked to poor prognosis in several types of cancer. CTCs in squamous cell carcinoma of the head and neck (SCCHN) have an unclear role. METHODS: In this prospective study, patients with locally advanced or metastatic SCCHN had CTC counts assessed before starting systemic treatment using the CellSearch System. Select cases also had sequential CTC evaluation. Presence of CTCs was correlated with patient characteristics and outcomes. RESULTS: Forty-eight patients enrolled, and 36 had evaluable clinical data and baseline CTC counts. Twenty-five patients had locally advanced disease (LAD) and 11 had metastatic disease. ≥1 CTCs were detected in six patients with LAD (24%) and four with metastatic disease (36%). On univariate analysis, smoking was associated with CTCs. CONCLUSION: CTCs are not associated with prognosis in patients with LAD and metastatic disease; however, they are present in this patient population, and ≥1 CTCs is associated with a history of smoking. LEVEL OF EVIDENCE: 1b; individual prospective cohort study.
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A novel, non-verbal test of semantic feature knowledge is introduced, enabling subordinate knowledge of four important concept attributes--colour, sound, environmental context and motion--to be individually probed. This methodology provides more specific information than existing non-verbal semantic tests about the status of attribute knowledge relating to individual concept representations. Performance on this test of a group of 12 patients with semantic dementia (10 male, mean age: 64.4 years) correlated strongly with their scores on more conventional tests of semantic memory, such as naming and word-to-picture matching. The test's overlapping structure, in which individual concepts were probed in two, three or all four modalities, provided evidence of performance consistency on individual items between feature conditions. Group and individual analyses revealed little evidence for differential performance across the four feature conditions, though sound and colour correlated most strongly, and motion least strongly, with other semantic tasks, and patients were less accurate on the motion features of living than non-living concepts (with no such conceptual domain differences in the other conditions). The results are discussed in the context of their implications for the place of semantic dementia within the classification of progressive aphasic syndromes, and for contemporary models of semantic representation and organization.
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Afasia Primária Progressiva/psicologia , Transtornos da Linguagem/etiologia , Semântica , Idoso , Percepção Auditiva , Percepção de Cores , Formação de Conceito , Feminino , Humanos , Transtornos da Linguagem/diagnóstico , Testes de Linguagem , Masculino , Transtornos da Memória/diagnóstico , Transtornos da Memória/etiologia , Pessoa de Meia-Idade , Percepção de Movimento , Testes NeuropsicológicosRESUMO
This study tested the hypothesis that stable C and N isotope values in surface soil and litter would be increased by fire due to volatilization of lighter isotopes. The hypothesis was tested by: (1) performing experimental laboratory burns of organic and mineral soil materials from a watershed at combinations of temperature ranging 100 to 600 degrees C and duration ranging from 1 to 60 min; (2) testing field samples of upland soils before, shortly after, and 1 yr following a wildfire in the same watershed; and (3) testing field soil samples from a down-gradient ash/sediment depositional area in a riparian zone following a runoff event after the wildfire. Muffle furnace results indicated the most effective temperature range for using stable isotopes for tracing fire impacts is 200 to 400 degrees C because lower burn temperatures may not produce strong isotopic shifts, and at temperatures>or=600 degrees C, N and C content of residual material is too low. Analyses of field soil samples were inconclusive: there was a slightly significant effect of the wildfire on delta15N values in upland watershed analyses 1 yr postburn, while riparian zone analyses results indicated that delta13C values significantly decreased approximately 0.71 per thousand over a 9 mo post-fire period (p=0.015), and ash/sediment layer delta13C values were approximately 0.65 per thousand higher than those in the A horizon. The lack of field confirmation may have been due to overall wildfire burn temperatures being <200 degrees C and/or microbial recovery and vegetative growth in the field. Thus, the muffle furnace experiment supported the hypothesis, but it is as yet unconfirmed by actual wildfire field data.
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Incêndios , Isótopos , ÁrvoresRESUMO
High intensity wildfire due to long-term fire suppression and heavy fuels buildup can render watersheds highly susceptible to wind and water erosion. The 2002 "Gondola" wildfire, located just southeast of Lake Tahoe, NV-CA, was followed 2 wk later by a severe hail and rainfall event that deposited 7.6 to 15.2 mm of precipitation over a 3 to 5 h time period. This resulted in a substantive upland ash and sediment flow with subsequent down-gradient riparian zone deposition. Point measurements and ESRI ArcView were applied to spatially assess source area contributions and the extent of ash and sediment flow deposition in the riparian zone. A deposition mass of 380 Mg of ash and sediment over 0.82 ha and pre-wildfire surface bulk density measurements were used in conjunction with two source area assessments to generate an estimation of 10.1 mm as the average depth of surface material eroded from the upland source area. Compared to previous measurements of erosion during rainfall simulation studies, the erosion of 1800 to 6700 g m(-2) mm(-1) determined from this study was as much as four orders of magnitude larger. Wildfire, followed by the single event documented in this investigation, enhanced soil water repellency and contributed 17 to 67% of the reported 15 to 60 mm ky(-1) of non-glacial, baseline erosion rates occurring in mountainous, granitic terrain sites in the Sierra Nevada. High fuel loads now common to the Lake Tahoe Basin increase the risk that similar erosion events will become more commonplace, potentially contributing to the accelerated degradation of Lake Tahoe's water clarity.
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Desastres , Ecossistema , Incêndios , Sistemas de Informação Geográfica , California , Geografia , Nevada , Nitrogênio/análise , Chuva , Solo/análiseRESUMO
The case of an aphasic patient whose spontaneous speech contains very few lexical verbs is reported. Instead of sentences with lexical verbs, the patient produces many (grammatical) copular constructions. He also substitutes lexical verbs with the copula. Although this results in ungrammatical utterances, by doing so, a resemblance of sentence structure and a degree of grammaticality of his utterances are preserved. Although the patient is more impaired in naming action than object pictures, it is unlikely that lexical retrieval difficulties are solely responsible for the paucity of lexical verbs in his speech. A series of tests revealed a profound deficit in producing tense marking inflections and in understanding their significance. We argue that the unavailability of tense features is the primary reason for the lack of lexical verbs in his speech. An alternative possibility, that the tense deficit interacts with the verb retrieval deficit, is also discussed. The patient has a complex lesion and language profile, with features associated with both Broca's and Wernicke's aphasia. However, since the study focuses on his verb and tense deficits and the grammaticality of his utterances, issues that are often discussed in relation to agrammatic Broca's aphasia, the literature that is relevant to these topics and to Broca's aphasia is reviewed, despite the different diagnostic profile of the patient.
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Afasia de Broca/fisiopatologia , Afasia de Wernicke/fisiopatologia , Semântica , Fala , Afasia de Broca/patologia , Afasia de Wernicke/patologia , Lobo Frontal/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Lobo Parietal/patologia , Índice de Gravidade de Doença , Lobo Temporal/patologiaRESUMO
OBJECTIVE: We conducted a systematic review to examine the prevalence of minor and major complications following first-trimester aspiration abortion requiring medical or surgical intervention. STUDY DESIGN: We searched PubMed, Cumulative Index to Nursing and Allied Health Literature, Scopus and the Cochrane Library for articles published between 1980 and April 2015 that reported on repeat aspiration, hemorrhage, infection, cervical/vaginal trauma, uterine perforation, abdominal surgery, hospitalization, anesthesia-related complications and death. We limited our review to studies that included ≥100 abortions performed by physicians in North America, Western Europe, Scandinavia and Australia/New Zealand. We compared the prevalence of complications that required additional interventions for abortions performed in office-based clinics and surgical center or hospital clinic settings. RESULTS: From 11,369 articles retrieved, 57 studies met our inclusion criteria. Evidence from 36 studies suggests that ≤3.0% of procedures performed in any setting necessitates repeat aspiration. Hemorrhage not requiring transfusion occurred in 0-4.7% of office-based procedures and 0-4.1% of hospital-based procedures but was ≤1.0% in 23 studies. Major complications requiring intervention, including hemorrhage requiring transfusion and uterine perforation needing repair, occurred in ≤0.1% of procedures, and hospitalization was necessary in ≤0.5% of cases in most studies. Anesthesia-related complications occurred in ≤0.2% of procedures in six office-based studies and ≤0.5% of procedures performed in surgical centers or hospital-based clinics. No abortion-related deaths were reported. CONCLUSIONS: The percentage of first-trimester aspiration abortions that required interventions for minor and major complications was very low. Overall, the prevalence of major complications was similar across clinic contexts, indicating that this procedure can be safely performed in an office setting. IMPLICATIONS: Laws requiring abortion providers to have hospital admitting privileges or facilities to meet ambulatory surgical center standards would be unlikely to improve the safety of first-trimester aspiration abortion in office settings.
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Aborto Induzido/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Primeiro Trimestre da Gravidez , Aborto Induzido/métodos , Austrália , Europa (Continente) , Feminino , Humanos , Nova Zelândia , América do Norte , Complicações Pós-Operatórias/etiologia , Hemorragia Pós-Operatória/epidemiologia , Hemorragia Pós-Operatória/etiologia , Gravidez , Países Escandinavos e Nórdicos , Sucção/efeitos adversos , Perfuração Uterina/epidemiologia , Perfuração Uterina/etiologiaAssuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias do Colo/tratamento farmacológico , Neoplasias do Colo/genética , Deficiência da Di-Hidropirimidina Desidrogenase/genética , Glucuronosiltransferase/deficiência , Glucuronosiltransferase/genética , Antimetabólitos Antineoplásicos/administração & dosagem , Antineoplásicos Fitogênicos/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Camptotecina/administração & dosagem , Camptotecina/análogos & derivados , Camptotecina/uso terapêutico , Neoplasias do Colo/diagnóstico por imagem , Feminino , Fluoruracila/administração & dosagem , Fluoruracila/uso terapêutico , Humanos , Irinotecano/administração & dosagem , Leucovorina/administração & dosagem , Leucovorina/uso terapêutico , Pessoa de Meia-Idade , Mutação/genética , Tomografia Computadorizada por Raios XRESUMO
CONTEXT: As a multidimensional phenomenon, pain is influenced by various psychological factors. One such factor is catastrophizing, which is associated with higher pain intensity and emotional distress in cancer and noncancer pain. One possibility is that catastrophizing represents a general cognitive style that preferentially supports the processing of negative affective stimuli. Such preferential processing of threat--toward negative facial expressions, for example--is seen in emotional disorders and is sensitive to pharmacological treatment. Whether pharmacological (analgesic) treatment might also influence the processing of threat in pain patients is currently unclear. OBJECTIVES: This study investigates the effects catastrophizing on processing of facial affect in those receiving an acute opioid dose. METHODS: In a double-blind crossover design, the performance of 20 palliative care patients after their usual dose of immediate-release opioid was compared with their performance following matched-placebo administration on a facial affect recognition (i.e., speed and accuracy) and threat-pain estimation task (i.e., ratings of pain intensity). The influence of catastrophizing was examined by splitting the sample according to their score on the Pain Catastrophizing Scale (PCS). RESULTS: Opioid administration had no effect on facial affect processing compared with placebo. However, the main finding was that enhanced processing of fear, sadness, and disgust was found only in patients who scored highly on the PCS. There was no difference in performance between the two PCS groups on the other emotions (i.e., happiness, surprise, and anger). CONCLUSION: These findings suggest that catastrophizing is associated with an affective information-processing bias in patients with severe pain conditions.
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Afeto/efeitos dos fármacos , Analgésicos Opioides/uso terapêutico , Catastrofização/tratamento farmacológico , Catastrofização/psicologia , Expressão Facial , Dor/tratamento farmacológico , Dor/psicologia , Catastrofização/complicações , Método Duplo-Cego , Medo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cuidados Paliativos/métodos , Resultado do TratamentoRESUMO
This article reports the findings from 3 patients with semantic dementia (SD) who were given a novel battery of 33 items from sensory quality categories (SQCs) as previously described by Borgo and Shallice (2001; 2003) and Laiacona, Capitani and Caramazza (2003). Their performance on three tasks (two naming, one word-to-picture matching) was compared with performance on similar tasks using a conventional semantic battery. At the group level, patients performed worse than age-matched controls overall, but neither group showed any differences in performance between domains (i.e., living, nonliving and SQCs). Individual patient analyses, however, showed contrasting profiles in the three patients. The results are discussed in terms of the SFT (Warrington & Shallice, 1984) and individual differences (Lambon-Ralph et al., 2003) accounts of category-specificity in SD.
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Demência/diagnóstico , Demência/fisiopatologia , Conhecimento , Semântica , Vocabulário , Idoso , Análise de Variância , Estudos de Casos e Controles , Demência/psicologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos/estatística & dados numéricos , Reconhecimento Psicológico/fisiologia , Índice de Gravidade de Doença , Comportamento Verbal/fisiologia , Percepção Visual/fisiologiaRESUMO
We describe a patient who came to neurological attention because of his at-risk status for the +16 exon 10 splice mutation in the tau gene (microtubule associated protein tau, MAPT), which had given rise to progressive behavioural disturbances in two of his siblings. The patient began to exhibit early signs of behavioural disturbance at around the age of symptom onset in both of his siblings. Although he did not spontaneously complain of difficulties in the domain of language, he met clinical, radiological and neuropsychological criteria for semantic dementia. On the assumption that his illness is mediated by the same pathological process as those of his siblings, we propose that this clinical picture represents the earliest changes of a semantic impairment - a phase of the illness that is often retrospectively described by patients and their relations, but has never previously been documented at first hand. Although typical of semantic dementia in many respects, the illness had several interesting and atypical features that emerged on detailed testing: first, he exhibited no insight into his difficulties; secondly, progression over a twelve-month interval was unusually slow; thirdly, he evinced a striking and consistent advantage for nonliving over living concepts; fourthly, a differential impairment of distinctive over shared knowledge did not emerge except when items that he could still name were compared with those for which he was anomic. Finally, the availability of post mortem pathological analysis from the brains of both of his affected siblings allowed us to attribute his illness to a specific pathological process which is considered unusual for patients with this clinical phenotype.
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Demência/genética , Transtornos da Linguagem/genética , Mutação , Proteínas do Tecido Nervoso/genética , Semântica , Estudos de Casos e Controles , Demência/complicações , Demência/patologia , Progressão da Doença , Humanos , Transtornos da Linguagem/etiologia , Transtornos da Linguagem/patologia , Testes de Linguagem , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Mudanças Depois da Morte , Desempenho Psicomotor/fisiologia , Estudos Retrospectivos , Irmãos , Proteínas tauRESUMO
Some patients, who are rendered perimetrically blind in one hemifield by cortical lesions, nevertheless exhibit residual visual capacities within their field defects. The neural mechanism that mediates the residual visual responses has remained the topic of considerable debate. One explanation posits the subcortical visual pathways that bypass the primary visual cortex and innervate the extrastriate visual areas as the substrate that underlies the residual vision. The other explanation is that small islands of the primary visual cortex remain intact and provide the signals for residual vision. We have performed behavioral and functional magnetic resonance imaging experiments to investigate the validity of the two explanations of residual vision. Our behavioral experiments indicated that of the seven hemianopes tested, two had the ability to discriminate the direction of a drifting grating. This residual visual response was shown with fMRI to be the result of spared islands of calcarine cortical activity in one of the hemianopes, whereas only lateral occipital activity was documented in the other patient. These results indicate that the underlying neural correlates of residual vision can vary between patients. Moreover, our study emphasizes the necessity of ruling out the presence of islands of preserved function and primary visual cortex before assigning residual visual capacities to the properties of visual pathways that bypass the primary visual cortex.