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1.
Arch Phys Med Rehabil ; 103(3): 402-408, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34496270

RESUMO

OBJECTIVE: To investigate higher cognitive functions after mimicry changes after facial botulinum toxin (BTX) injections, we tested verbal and nonverbal reasoning in patients with blepharospasm or hemifacial spasm before and after their long-term botulinum toxin treatment. DESIGN: Explorative, nonrandomized, clinical trial. SETTING: Patients receiving ambulatory care and control participants from the general community. PARTICIPANTS: Volunteer sample (N=84) of patients (n=21) with blepharospasm or hemifacial spasm who received facial BTX injections. Control participants included patients (n=30) with cervical dystonia who received cervical BTX injections and individuals without neurological disorders (n=33). INTERVENTIONS: The 2 groups receiving injections were tested before and 3 weeks after their treatment. The group without neurological disorders received no injections. MAIN OUTCOME MEASURES: Verbal and nonverbal reasoning scores. RESULTS: The key unexpected finding was that patients who received facial BTX injections perform significantly worse in nonverbal reasoning tasks, when compared with those who did not receive injections (P=.022). There was no significant difference in the baseline reasoning scores and at follow-up for verbal reasoning between the 3 groups. There was no correlation between toxin dose and reasoning scores (verbal: P=.132; nonverbal: P=.294). CONCLUSIONS: Because of potential confounders, the results do not yet allow any conclusion on causality. Further research is needed to confirm our findings.


Assuntos
Blefarospasmo , Toxinas Botulínicas , Espasmo Hemifacial , Blefarospasmo/tratamento farmacológico , Toxinas Botulínicas/uso terapêutico , Cognição , Estudos de Coortes , Espasmo Hemifacial/tratamento farmacológico , Humanos
2.
Psychol Res ; 85(2): 533-553, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31701225

RESUMO

Theory of Mind (ToM) is the ability to represent and attribute mental states to oneself and others. So far, research regarding ToM processing across adolescence is scarce. Existing studies either yield inconsistent results or did not or not thoroughly investigate aspects like higher order ToM and associated neuropsychological variables which the current study tried to address. 643 typically developing early, middle, and late adolescents (age groups 13-14; 15-16; 17-18) performed cognitive and affective ToM tasks as well as neuropsychological tasks tapping the cognitive or affective domain. Regarding both ToM types, 15- to 16-year-olds and 17- to 18-year-olds outperformed 13- to 14-year-olds, whereas females were superior regarding cognitive ToM. Across adolescence, cognitive and affective ToM correlated with attention and affective intelligence, whereas working memory, language comprehension, and figural intelligence additionally correlated with cognitive ToM. In early adolescence, attention correlated with both ToM types, whereas cognitive ToM further correlated with language comprehension and affective ToM with verbal intelligence, verbal fluency, and verbal flexibility. In middle and late adolescence, affective intelligence correlated with both ToM types, whereas cognitive ToM additionally correlated with working memory, language comprehension, and figural intelligence. The current study shows a developmental step regarding cognitive and affective ToM in middle adolescence as well as gender differences in cognitive ToM processing. Associations between neuropsychological variables and ToM processing were shown across adolescence and within age groups. Results give new insights into social cognition in adolescence and are well supported by neuroscientific and neurobiological studies regarding ToM and the integration of cognitive and affective processes.


Assuntos
Comportamento do Adolescente/fisiologia , Afeto/fisiologia , Cognição/fisiologia , Teoria da Mente/fisiologia , Adolescente , Emoções , Feminino , Humanos , Inteligência , Masculino , Memória de Curto Prazo/fisiologia , Testes Neuropsicológicos , Habilidades Sociais
3.
Psychol Res ; 84(7): 1857-1876, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31098662

RESUMO

Subjective emotional arousal in typically developing adults was investigated in an explorative study. 177 participants (20-70 years) rated facial expressions and words for self-experienced arousal and perceived intensity, and completed the Difficulties in Emotion Regulation scale and the Hospital Anxiety and Depression scale (HADS-D). Exclusion criteria were psychiatric or neurological diseases, or clinically relevant scores in the HADS-D. Arousal regarding faces and words was significantly predicted by emotional clarity. Separate analyses showed following significant results: arousal regarding faces and arousal regarding words constantly predicted each other; negative faces were predicted by age and intensity; neutral faces by gender and impulse control; positive faces by gender and intensity; negative words by emotional clarity; and neutral words by gender. Males showed higher arousal scores than females regarding neutral faces and neutral words; for the other arousal scores, no explicit group differences were shown. Cluster analysis yielded three distinguished emotional characteristics groups: "emotional difficulties disposition group" (mainly females; highest emotion regulation difficulties, depression and anxiety scores; by trend highest arousal), "low emotional awareness group" (exclusively males; lowest awareness regarding currently experienced emotions; by trend intermediate arousal), and a "low emotional difficulties group" (exclusively females; lowest values throughout). No age effect was shown. Results suggest that arousal elicited by facial expressions and words are specialized parts of a greater emotional processing system and that typically developing adults show some kind of stable, modality-unspecific dispositional baseline of emotional arousal. Emotional awareness and clarity, and impulse control probably are trait aspects of emotion regulation that influence emotional arousal in typically developing adults and can be regarded as aspects of meta-emotion. Different emotional personality styles were shown between as well as within gender groups.


Assuntos
Ansiedade/fisiopatologia , Nível de Alerta/fisiologia , Depressão/fisiopatologia , Regulação Emocional/fisiologia , Emoções/fisiologia , Metacognição/fisiologia , Personalidade/fisiologia , Adulto , Fatores Etários , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Adulto Jovem
4.
Acta Neuropathol ; 133(1): 25-42, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27796537

RESUMO

In multiple sclerosis (MS), iron accumulates inside activated microglia/macrophages at edges of some chronic demyelinated lesions, forming rims. In susceptibility-based magnetic resonance imaging at 7 T, iron-laden microglia/macrophages induce a rim of decreased signal at lesion edges and have been associated with slowly expanding lesions. We aimed to determine (1) what lesion types and stages are associated with iron accumulation at their edges, (2) what cells at the lesion edges accumulate iron and what is their activation status, (3) how reliably can iron accumulation at the lesion edge be detected by 7 T magnetic resonance imaging (MRI), and (4) if lesions with rims enlarge over time in vivo, when compared to lesions without rims. Double-hemispheric brain sections of 28 MS cases were stained for iron, myelin, and microglia/macrophages. Prior to histology, 4 of these 28 cases were imaged at 7 T using post-mortem susceptibility-weighted imaging. In vivo, seven MS patients underwent annual neurological examinations and 7 T MRI for 3.5 years, using a fluid attenuated inversion recovery/susceptibility-weighted imaging fusion sequence. Pathologically, we found iron rims around slowly expanding and some inactive lesions but hardly around remyelinated shadow plaques. Iron in rims was mainly present in microglia/macrophages with a pro-inflammatory activation status, but only very rarely in astrocytes. Histological validation of post-mortem susceptibility-weighted imaging revealed a quantitative threshold of iron-laden microglia when a rim was visible. Slowly expanding lesions significantly exceeded this threshold, when compared with inactive lesions (p = 0.003). We show for the first time that rim lesions significantly expanded in vivo after 3.5 years, compared to lesions without rims (p = 0.003). Thus, slow expansion of MS lesions with rims, which reflects chronic lesion activity, may, in the future, become an MRI marker for disease activity in MS.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Ferro/metabolismo , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/metabolismo , Progressão da Doença , Feminino , Humanos , Imuno-Histoquímica , Macrófagos/metabolismo , Macrófagos/patologia , Imageamento por Ressonância Magnética , Masculino , Microglia/metabolismo , Microglia/patologia , Pessoa de Meia-Idade , Esclerose Múltipla/metabolismo , Adulto Jovem
5.
Cogn Process ; 18(2): 159-167, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28101812

RESUMO

Humour processing is a complex information-processing task that is dependent on cognitive and emotional aspects which presumably influence frame-shifting and conceptual blending, mental operations that underlie humour processing. The aim of the current study was to find distinctive groups of subjects with respect to black humour processing, intellectual capacities, mood disturbance and aggressiveness. A total of 156 adults rated black humour cartoons and conducted measurements of verbal and nonverbal intelligence, mood disturbance and aggressiveness. Cluster analysis yields three groups comprising following properties: (1) moderate black humour preference and moderate comprehension; average nonverbal and verbal intelligence; low mood disturbance and moderate aggressiveness; (2) low black humour preference and moderate comprehension; average nonverbal and verbal intelligence, high mood disturbance and high aggressiveness; and (3) high black humour preference and high comprehension; high nonverbal and verbal intelligence; no mood disturbance and low aggressiveness. Age and gender do not differ significantly, differences in education level can be found. Black humour preference and comprehension are positively associated with higher verbal and nonverbal intelligence as well as higher levels of education. Emotional instability and higher aggressiveness apparently lead to decreased levels of pleasure when dealing with black humour. These results support the hypothesis that humour processing involves cognitive as well as affective components and suggest that these variables influence the execution of frame-shifting and conceptual blending in the course of humour processing.


Assuntos
Afeto/fisiologia , Agressão/fisiologia , Cognição/fisiologia , Emoções/fisiologia , Inteligência , Senso de Humor e Humor como Assunto , Adulto , Análise por Conglomerados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatística como Assunto , Adulto Jovem
6.
J Psycholinguist Res ; 46(5): 1237-1247, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28474204

RESUMO

Specific language impairment (SLI) comprises impairments in receptive and/or expressive language. Aim of this study was to evaluate a screening for SLI. 61 children with SLI (SLI-children, age-range 4-6 years) and 61 matched typically developing controls were tested for receptive language ability (Token Test-TT) and for intelligence (Wechsler Preschool-and-Primary-Scale-of-Intelligence-WPPSI). Group differences were analyzed using t tests, as well as direct and stepwise discriminant analyses. The predictive value of the WPPSI with respect to TT performance was analyzed using regression analyses. SLI-children performed significantly worse on both TT and WPPSI ([Formula: see text]). The TT alone yielded an overall classification rate of 79%, the TT and the WPPSI together yielded an overall classification rate of 80%. TT performance was significantly predicted by verbal intelligence in SLI-children and nonverbal intelligence in controls whilst WPPSI subtest arithmetic was predictive in both groups. Without further research, the Token Test cannot be seen as a valid and sufficient tool for the screening of SLI in preschool children but rather as a tool for the assessment of more general intellectual capacities. SLI-children at this age already show impairments typically associated with SLI which indicates the necessity of early developmental support or training. Token Test performance is possibly an indicator for a more general developmental factor rather than an exclusive indicator for language difficulties.


Assuntos
Transtornos do Desenvolvimento da Linguagem/diagnóstico , Idioma , Testes Neuropsicológicos/estatística & dados numéricos , Aptidão , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Memória de Curto Prazo
7.
Hum Brain Mapp ; 37(6): 2151-60, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26955899

RESUMO

This study provides first data about the spatial variability of fMRI sensorimotor localizations when investigating the same subjects at different fMRI sites. Results are comparable to a previous patient study. We found a median between-site variability of about 6 mm independent of task (motor or sensory) and experimental standardization (high or low). An intraclass correlation coefficient analysis using data quality measures indicated a major influence of the fMRI site on variability. In accordance with this, within-site localization variability was considerably lower (about 3 mm). We conclude that the fMRI site is a considerable confound for localization of brain activity. However, when performed by experienced clinical fMRI experts, brain pathology does not seem to have a relevant impact on the reliability of fMRI localizations. Hum Brain Mapp 37:2151-2160, 2016. © 2016 Wiley Periodicals, Inc.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/fisiologia , Imageamento por Ressonância Magnética , Adulto , Análise de Variância , Mapeamento Encefálico/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora/fisiologia , Testes Neuropsicológicos , Reprodutibilidade dos Testes , Percepção do Tato/fisiologia , Adulto Jovem
8.
Clin Neuropathol ; 35(3): 122-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26784964

RESUMO

A link between Gaucher disease (GD) and Parkinson disease (PD) has been suggested by many studies. Lewy-body-like α-synuclein inclusions have been shown in older GD patients who developed Parkinsonism. It has been proposed that decreased levels of glucocerebrosidase mediate impaired α-synuclein degradation and hence its accumulation. Nevertheless, this phenomenon is less investigated in the infantile form of GD. The aim of the study was to evaluate α-synuclein and τ-pathology in the brain and non-neural tissues (liver, spleen, pancreas, myocardial muscle, and lung) of 5 infants (age range from 1 month to 4 years) with GD. Our immunohistochemical study did not provide evidence that pathological α-synuclein or τ-accumulates early in tissues where Gaucher cells are already prominently present. Although recent finding of altered plasma α-synuclein levels in infantile GD patients suggest an early imbalance of α-synuclein homeostasis, our findings indicate that this does not inevitably coincide with α-synuclein pathology in the brain. Understanding this temporal variance of plasma levels and brain accumulation of α-synuclein might also be important when interpreting blood-based α-synuclein assays for the diagnosis of PD.


Assuntos
Encéfalo/patologia , Doença de Gaucher/patologia , Histiócitos/patologia , alfa-Sinucleína/metabolismo , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
9.
Neuroepidemiology ; 44(1): 6-15, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25571962

RESUMO

OBJECTIVES: To assess the epidemiology of ALS in Austria and to evaluate the long-term effect of riluzole treatment on survival. METHODS: Hospital discharge and riluzole prescription databases were used to identify ALS cases from January 2008 to June 2012. Using the capture-recapture method we evaluated the incidence and prevalence of ALS and patients' survival in dependence of age, gender and riluzole treatment. RESULTS: The corrected incidence and prevalence of ALS were 3.13/100,000 person-years (95% CI, 2.77 to 3.50) and 9.14/100,000 persons (95% CI, 8.53 to 9.79), respectively. Median survival from diagnosis was 676 days (95% CI, 591 to 761). A younger age at diagnosis was associated with a longer survival. Gender did not appear to affect survival time. Riluzole therapy was associated with a survival advantage only for the initial treatment period. The adjusted hazard ratio of mortality for using riluzole increased continually over time resulting in an apparent reversal of its beneficial effect after 6 months of therapy. CONCLUSIONS: We report incidence and prevalence estimates that are on the upper end of the wide range discussed in literature. Riluzole seems to exert a beneficial effect only in the first 6 months of therapy.


Assuntos
Esclerose Lateral Amiotrófica/epidemiologia , Fármacos Neuroprotetores/uso terapêutico , Riluzol/uso terapêutico , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/tratamento farmacológico , Esclerose Lateral Amiotrófica/mortalidade , Áustria/epidemiologia , Bases de Dados Factuais , Progressão da Doença , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Prognóstico , Fatores Sexuais , Resultado do Tratamento , Adulto Jovem
10.
Eur Radiol ; 25(10): 2913-20, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25903703

RESUMO

OBJECTIVE: To monitor the venous volumes in plaques of patients with multiple sclerosis (MS) compared to an age-matched control group over a period of 3.5 years. METHODS: Ten MS patients underwent an annual neurological examination and MRI. Susceptibility-weighted imaging (SWI) combined with fluid-attenuated inversion recovery (FLAIR) or FLAIR-like contrast at 7 Tesla (7 T) magnetic resonance imaging (MRI) was used for manual segmentation of veins in plaques, in the normal-appearing white matter (NAWM) and in location-matched white matter of 9 age-matched controls. Venous volume to tissue volume ratio was assessed for each time point in order to describe the dynamics of venous volumes in MS plaques over time. RESULTS: MS plaques, which were newly detected during the study period, showed significantly higher venous volumes compared to the preplaque area 1 year before plaque detection and the corresponding NAWM regions. Venous volumes in established MS plaques, which were present already in the first scans, were significantly higher compared to the NAWM and controls. CONCLUSIONS: Our data underpin a relation of veins and plaque development in MS and reflect increased apparent venous calibers due to increased venous diameters or increased oxygen consumption in early MS plaques. KEY POINTS: • Longitudinal 7 T Magnetic Resonance Imaging study of intralesional veins in MS patients. • Venous volumes are significantly increased in newly detected and established MS plaques. • Venous volumes in established MS plaques show a trend to decrease with time.


Assuntos
Esclerose Múltipla/patologia , Veias/patologia , Adulto , Estudos de Casos e Controles , Circulação Cerebrovascular/fisiologia , Estudos de Coortes , Feminino , Humanos , Angiografia por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/fisiopatologia , Placa Aterosclerótica/patologia , Placa Aterosclerótica/fisiopatologia , Substância Branca/irrigação sanguínea , Substância Branca/patologia , Adulto Jovem
11.
Audiol Neurootol ; 20(3): 189-94, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25924627

RESUMO

PURPOSE: To investigate the spatiotemporal evolution of cortical activation during the initiation of optokinetic nystagmus using magnetoencephalography. BACKGROUND: Previous imaging studies of optokinetic nystagmus in humans using positron emission tomography and functional magnetic resonance imaging discovered activation of a large set of cortical and subcortical structures during steady-state optokinetic stimulation, but did not provide information on the temporal dynamics of the initial response. Imaging studies have shown that cortical areas responsible for vision in occipital and temporo-occipital areas are involved, i.e. cortical areas control optokinetic stimulation in humans. Magnetoencephalography provides measures that reflect neural ensemble activity in the millisecond time scale, allowing the identification of early cortical components of visuomotor integration. DESIGN/METHODS: We studied neuromagnetic cortical responses during the initiation of optokinetic nystagmus in 6 right-handed healthy subjects. Neuromagnetic activity was recorded with a whole-head magnetoencephalograph, consisting of 143 planar gradiometers. RESULTS: The mean (±SD) latency between stimulus onset and initiation of optokinetic nystagmus was 177.7 ± 59 ms. Initiation of optokinetic nystagmus evoked an early component in the primary visual cortex starting at 40-90 ms prior to the onset of the slow phase of nystagmus. Almost simultaneously an overlapping second component occurred bilaterally in the temporo-occipital area (visual motion areas), pronounced in the right hemisphere, starting at 10-60 ms prior to the slow-phase onset. Both components showed long-duration activity lasting for up to 100 ms after slow-phase onset. CONCLUSIONS: Our findings suggest that the initiation of optokinetic nystagmus induces early cortical activation in the occipital cortex and almost simultaneously bilaterally in the temporo-occipital cortex. These cortical regions might represent essential areas for the monitoring of retinal slip.


Assuntos
Percepção de Movimento/fisiologia , Nistagmo Optocinético/fisiologia , Córtex Visual/fisiologia , Adulto , Feminino , Humanos , Magnetoencefalografia , Masculino , Projetos Piloto , Adulto Jovem
12.
Int Psychogeriatr ; 27(3): 357-66, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25382659

RESUMO

BACKGROUND: Impaired awareness of memory deficits has been recognized as a common phenomenon in Alzheimer's disease (AD) and research is now increasingly focusing on awareness in groups at risk for future dementia. This study aimed to determine whether levels of awareness differ among healthy elderly people and patients with subjective cognitive decline (SCD), amnestic and non-amnestic subtypes of mild cognitive impairment (aMCI, naMCI), Alzheimer's disease (AD) and Parkinson's disease (PD), to explore correlates of awareness and to establish frequencies of memory over- and underestimation within each diagnostic group. METHODS: 756 consecutive outpatients of a memory clinic and 211 healthy controls underwent thorough neuropsychological testing. Impairment of awareness was measured as the difference between subjective memory appraisals (16-item questionnaire on current memory-related problems in everyday life) and objective memory performance (15-item delayed recall task). Subgroups of over- and underestimators were classified using percentile ranks of controls. RESULTS: At group level, awareness significantly decreased along the naMCI→aMCI→AD continuum, with naMCI patients showing a tendency towards overestimation of memory dysfunction. PD patients showed accurate self-appraisals as long as memory function was largely unaffected. However, there was a considerable between-group overlap in awareness scores. Furthermore, different correlates of awareness were observed depending on the diagnostic group. In general, unawareness seems to be associated with decreased cognitive performance in various domains (especially memory), higher age and lower levels of depression and self-reported functional impairment. CONCLUSION: Impaired awareness is an important symptom in aMCI. Yet, given the considerable variability in awareness scores, longitudinal studies are required to evaluate their predictive power.


Assuntos
Doença de Alzheimer/psicologia , Transtornos Cognitivos/psicologia , Disfunção Cognitiva/psicologia , Transtornos da Memória/psicologia , Doença de Parkinson/psicologia , Humanos
13.
Am J Hum Genet ; 89(1): 168-75, 2011 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-21763483

RESUMO

To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. We found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive. By screening additional PD cases, we saw the same variant cosegregating with the disease in an autosomal-dominant mode with high but incomplete penetrance in two further families with five and ten affected members, respectively. The mean age of onset in the affected individuals was 53 years. Genotyping showed that the shared haplotype extends across 65 kilobases around VPS35. Screening the entire VPS35 coding sequence in an additional 860 cases and 1014 controls revealed six further nonsynonymous missense variants. Three were only present in cases, two were only present in controls, and one was present in cases and controls. The familial mutation p.Asp620Asn and a further variant, c.1570C>T (p.Arg524Trp), detected in a sporadic PD case were predicted to be damaging by sequence-based and molecular-dynamics analyses. VPS35 is a component of the retromer complex and mediates retrograde transport between endosomes and the trans-Golgi network, and it has recently been found to be involved in Alzheimer disease.


Assuntos
Mutação de Sentido Incorreto , Doença de Parkinson/genética , Proteínas de Transporte Vesicular/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Endossomos/genética , Endossomos/metabolismo , Feminino , Variação Genética , Haplótipos , Humanos , Ligação de Hidrogênio , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/metabolismo , Linhagem , Conformação Proteica , Proteínas de Transporte Vesicular/metabolismo , Rede trans-Golgi/metabolismo
14.
J Neural Transm (Vienna) ; 121(7): 755-9, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24557499

RESUMO

Recently a new autosomal dominant Parkinson's disease mutation (p.Asp620Asn) in the VPS35 gene was discovered. The clinical features of 14 PD patients with this mutation from three Austrian families were evaluated. Age at disease-onset appears lower and depression was more common in Austrian patients compared to sporadic PD patients. However, we were unable to identify a specific clinical maker of VPS35 patients, who otherwise resemble sporadic PD patients.


Assuntos
Predisposição Genética para Doença/genética , Doença de Parkinson/genética , Proteínas de Transporte Vesicular/genética , Idoso , Idoso de 80 Anos ou mais , Bases de Dados Factuais/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo
15.
Tohoku J Exp Med ; 234(4): 313-7, 2014 12.
Artigo em Inglês | MEDLINE | ID: mdl-25567034

RESUMO

The importance of oxidative stress in the pathogenesis of neuroimmunological and neurodegenerative diseases, such as multiple sclerosis (MS), has been discussed for a long time. However, markers for oxidative stress in cerebrospinal fluid are hardly detected. The aim of the present study is to assess whether carbonyl proteins as end products of metabolic processes may serve as a marker for oxidative stress in the cerebrospinal fluid (CSF) of patients with neuroimmunological and neurodegenerative diseases. Levels of carbonyl proteins in the CSF were assessed in 15 patients suffering from MS, four patients with neurodegenerative diseases, including one patient with dementia complicated by carcinomatous meningitis due to breast cancer, and four control subjects with no established neurological disease. Levels of carbonyl proteins were measured with a commercially available KIT. A significant difference (P = 0.025) was shown for mean values of various subgroups with highest levels for patients with neurodegenerative diseases (756.1 pmol/mg), followed by the MS (630.8 pmol/mg) and the control group (356.5 pmol/mg). Post-hoc pair wise comparisons showed significant differences between the MS group and healthy controls (P = 0.016) as well as for patients with neurodegenerative diseases and healthy controls (P = 0.02). This pilot trial showed that carbonyl proteins might serve as measure for oxidative stress in the CSF of relapsing as well as progressive MS patients and in patients with neurodegenerative diseases. Larger trials have to show whether they may serve as biomarkers and be helpful in monitoring patients with MS or neurodegenerative diseases.


Assuntos
Proteínas do Líquido Cefalorraquidiano/metabolismo , Doenças Neurodegenerativas/líquido cefalorraquidiano , Carbonilação Proteica , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
16.
Radiology ; 268(2): 521-31, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23525207

RESUMO

PURPOSE: To investigate intersite variability of clinical functional magnetic resonance (MR) imaging, including influence of task standardization on variability and use of various parameters to inform the clinician whether the reliability of a given functional localization is high or low. MATERIALS AND METHODS: Local ethics committees approved the study; all participants gave written informed consent. Eight women and seven men (mean age, 40 years) were prospectively investigated at three experienced functional MR sites with 1.5- (two sites) or 3-T (one site) MR. Nonstandardized motor and highly standardized somatosensory versions of a frequently requested clinical task (localization of the primary sensorimotor cortex) were used. Perirolandic functional MR variability was assessed (peak activation variability, center of mass [COM] variability, intraclass correlation values, overlap ratio [OR], activation size ratio). Data quality measures for functional MR images included percentage signal change (PSC), contrast-to-noise ratio (CNR), and head motion parameters. Data were analyzed with analysis of variance and a correlation analysis. RESULTS: Localization of perirolandic functional MR activity differed by 8 mm (peak activity) and 6 mm (COM activity) among sites. Peak activation varied up to 16.5 mm (COM range, 0.4-16.5 mm) and 45.5 mm (peak activity range, 1.8-45.5 mm). Signal strength (PSC, CNR) was significantly lower for the somatosensory task (mean PSC, 1.0% ± 0.5 [standard deviation]; mean CNR, 1.2 ± 0.4) than for the motor task (mean PSC, 2.4% ± 0.8; mean CNR, 2.9 ± 0.9) (P < .001, both). Intersite variability was larger with low signal strength (negative correlations between signal strength and peak activation variability) even if the task was highly standardized (mean OR, 22.0% ± 18.9 [somatosensory task] and 50.1% ± 18.8 [motor task]). CONCLUSION: Clinical practice and clinical functional MR biomarker studies should consider that the center of task-specific brain activation may vary up to 16.5 mm, with the investigating site, and should maximize functional MR signal strength and evaluate reliability of local results with PSC and CNR.


Assuntos
Mapeamento Encefálico/métodos , Imageamento por Ressonância Magnética/métodos , Adolescente , Adulto , Análise de Variância , Biomarcadores , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Modelos Lineares , Imageamento por Ressonância Magnética/normas , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes
17.
Alzheimers Dement ; 9(4): 366-76, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23164551

RESUMO

BACKGROUND: Early detection of dementia is becoming more and more important owing to the advent of pharmacologic treatment. OBJECTIVE: The goals of this study were to establish prevalence of mild cognitive impairment (MCI) subtypes in an outpatient memory clinic cohort using two different modes of MCI determination. DESIGN: Consecutive patients complaining of cognitive problems who came to the memory outpatient clinic for assessment of a possible cognitive disorder were included in the study. SETTING: Academic medical center. PARTICIPANTS: Six hundred eighty consecutive patients complaining about cognitive problems who came to the memory outpatient clinic for assessment of a possible cognitive disorder and fulfilled the inclusion criteria were included in the study. For 676 patients, sufficient data for MCI classification were available. RESULTS: Categorizing MCI patients into MCI subtypes according to the minimum mode of MCI classification revealed the following results: 106 patients (15.7%) were categorized as cognitively healthy, whereas 570 patients (84.3%) met the criteria for MCI. MCI patients were subtyped as amnestic mild cognitive impairment (aMCI) single domain (31 patients; 4.6%), aMCI multiple domain (226 patients; 33.4%), non-aMCI single domain (125 patients; 18.5%), and non-aMCI multiple domain (188 patients; 27.8%). Categorizing MCI patients into MCI subtypes according to the mean mode of MCI classification revealed the following results: 409 patients (60.5%) were categorized as cognitively healthy, whereas 267 patients (39.5%) met the criteria for MCI. MCI patients were subtyped as aMCI single domain (47 patients; 6.9%), aMCI multiple domain (57 patients; 8.5%), non-aMCI single domain (97 patients; 14.3%), and non-aMCI multiple domain (66 patients; 9.8%). CONCLUSION: MCI diagnosis frequencies are substantially affected by the criteria used for estimation of MCI. The effect of modifying the presence of impairment on a single cognitive measure versus the presence of impairment on a mean composite score of a certain domain differed considerably, ranging from 39.5% to 84.3%, indicating the importance of the development of guidelines for operationalizing MCI.


Assuntos
Disfunção Cognitiva/epidemiologia , Testes Neuropsicológicos , Centros Médicos Acadêmicos/estatística & dados numéricos , Idoso , Doença de Alzheimer/epidemiologia , Amnésia/classificação , Amnésia/diagnóstico , Amnésia/epidemiologia , Área Sob a Curva , Áustria/epidemiologia , Disfunção Cognitiva/classificação , Disfunção Cognitiva/diagnóstico , Estudos de Coortes , Progressão da Doença , Função Executiva , Feminino , Humanos , Testes de Inteligência , Testes de Linguagem , Masculino , Memória Episódica , Rememoração Mental , Pessoa de Meia-Idade , Ambulatório Hospitalar/estatística & dados numéricos , Valor Preditivo dos Testes , Prevalência , Estudos Prospectivos , Curva ROC , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/epidemiologia
18.
Neurogenetics ; 13(2): 181-7, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22411505

RESUMO

We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 (DDEF2/MBOAT2, p < 0.02) and rs16914086 (TBC1D2, p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 (HLA-DRB1*1501, p < 0.01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6.


Assuntos
Replicação do DNA , DNA/genética , Predisposição Genética para Doença , Esclerose Múltipla/genética , Adulto , Idade de Início , Idoso , Alelos , Áustria , Estudos de Coortes , DNA/metabolismo , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/metabolismo , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença
19.
Int Psychogeriatr ; 24(12): 1972-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22882908

RESUMO

BACKGROUND: Antonovsky's salutogenic model of the "Sense of Coherence" (SOC) is an important resource in dealing with chronic diseases. The aim of this study was to investigate SOC as a psychological factor and its correlation with illness, subjective well-being, and health-related quality of life (QoL) in patients with Parkinson disease (PD) compared to patients with other chronic diseases. METHODS: Fifty-one patients suffering from PD and 59 participants with other chronic non-neurological diseases took part in this study. The PD patients were assessed through medical routine examinations and all participants were asked to complete several questionnaires for psychological assessment. In order to compare controls with the PD group, t-tests, U-tests, and multivariate analysis were conducted. Multiple regression analysis was calculated to identify predictor variables. RESULTS: Patients with PD were characterized by lower SOC and higher scores concerning depression compared to the control group (CG). Furthermore, the PD group showed fewer active coping strategies and lower scores concerning well-being. There were correlations between depression, coping, well-being and QoL, and SOC. The SOC had a particular predictive value with regards to the outcome "quality of life" and coping strategies. CONCLUSIONS: There are a number of differences regarding psychological characteristics of coping mechanisms in neurological and non-neurological patients. The SOC correlated with several psychological factors; however, there was no correlation with medical data. The SOC predicts scores pertaining coping mechanism and health-related QoL.


Assuntos
Adaptação Psicológica , Doença Crônica/psicologia , Depressão , Doença de Parkinson , Qualidade de Vida/psicologia , Senso de Coerência , Idoso , Áustria , Depressão/diagnóstico , Depressão/etiologia , Feminino , Avaliação Geriátrica/métodos , Disparidades nos Níveis de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Doença de Parkinson/complicações , Doença de Parkinson/psicologia , Testes Psicológicos , Análise de Regressão , Inquéritos e Questionários
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