RESUMO
OBJECTIVE: One of the most significant complications following coronary artery bypass grafting (CABG) is postoperative cognitive decline (POCD). CABG patients frequently experience considerable postoperative cognitive dysfunction (POCD), including decline in attention, orientation, memory, judgment, and social functioning. DESIGN: These negative effects may potentially be resolved by a protective factor, cognitive reserve (CR) that has been considered to function as a buffer against the consequences of neuropathology. SETTING: We explored the frequency of POCD and CR in coronary artery disease patients undergoing CABG. We hypothesized that high levels of CR would protect against POCD after cardiac surgery. PARTICIPANTS: We assessed 101 patients before surgery, and 4 months after cardiopulmonary bypass surgery with the use of extracorporeal circulation. MEASUREMENTS: Measures of cognitive functions, CR, anxiety, and depression were included in the assessment. RESULTS: Each patient was placed in the high (n = 50) or low CR (n = 51) group, based on median split. Chi-square tests effect showed that patients with low CR were more likely to a great extend to demonstrate postsurgical cognitive decline in attention, memory, visuospatial perception and executive functions than patients with high CR upon postsurgery neuropsychological assessment. CONCLUSIONS: Our results suggest that CR can forecast neuropsychological outcomes of cardiac surgery, recognizing the patients with low CR and help them to participate to interventions programs that could slow cognitive aging or reduce the risk of dementia and enhance their overall postsurgical functional outcome.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Transtornos Cognitivos , Disfunção Cognitiva , Reserva Cognitiva , Delírio , Humanos , Transtornos Cognitivos/complicações , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/prevenção & controle , Delírio/etiologia , Testes Neuropsicológicos , Encéfalo , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/psicologiaRESUMO
BACKGROUND: Extensive evidence has suggested functional connections between co-occurring visuomotor and social cognitive deficits in neuropsychiatric disorders; however, such association has not been studied in bipolar disorder (BD). We aimed to investigate the relationship between visuomotor coordination and social cognition in the euthymic stage of BD (euBD). Given the shared neurobiological underpinnings involving the dopaminergic system and corticostriatal circuitry, we hypothesized a positive correlation between social cognition and visuomotor coordination in euBD patients. METHODS: 40 euBD patients and 59 healthy control (HC) participants underwent evaluation of social (Diagnostic Analysis of Nonverbal Accuracy 2-Taiwan version (DANVA-2-TW)), non-social cognitive function and visuomotor coordination. A subgroup of participants completed single-photon emission computed tomography for striatal dopamine transporter (DAT) availability assessment. RESULTS: EuBD patients showed impaired nonverbal emotion recognition (ps ≤ 0.033) and poorer visuomotor coordination (ps < 0.003) compared to HC, with a positive correlation between these two abilities (r = 0.55, p < 0.01). However, after considering potential confounding factors, instead of visuomotor coordination, striatal DAT availability was a unique predictor of emotion recognition accuracy in euBD (beta = 0.33, p = 0.001). CONCLUSION: Our study result supported a functional association between social cognition and visuomotor coordination in euBD, with striatal dopaminergic dysfunction emerged as a crucial contributing factor in their interrelation.
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Transtorno Bipolar , Transtornos Cognitivos , Disfunção Cognitiva , Humanos , Transtorno Bipolar/complicações , Transtorno Bipolar/diagnóstico por imagem , Transtorno Bipolar/psicologia , Proteínas da Membrana Plasmática de Transporte de Dopamina , Disfunção Cognitiva/complicações , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/complicações , Cognição , DopaminaRESUMO
Background: Patients with breast cancer may experience cognitive difficulties from chemotherapy. This alteration is called Chemoinduced Cognitive Impairment, also known as Chemobrain or Chemofog. Objective: To identify the cognitive profile and the characteristics of the neuropsychological assessment in this population. Method: PubMed, SpringerLink and SciELO databases were revised. Articles from 1994 to September 2021 were selected. Keywords related to the study topic were used. Results: Chemotherapy can cause cognitive impairment between 15 and 50% of women. This disturbance may be from multiple aetiologies and can be associated with biological factors and functional and/or structural changes of the CNS. Sociodemographic, clinical and psychological factors should be considered as modulating variables. It manifests mainly with memory problems, executive function, attention and processing speed impairment. It can be measured through neuropsychological evaluation instruments. Discussion and conclusion: We suggest that chemo-induced cognitive impairment should be included to the informed consent. Further development of longitudinal studies complemented with neuroimages that allow us to advance in the knowledge of this problem is recommended. A neuropsychological protocol is proposed, which includes screening tests, clinical scales, specific cognitive tests and quality of life questionnaires, within the recommendations of the International Cognition and Cancer Task Force.
ANTECEDENTES: Los pacientes con cáncer de mama pueden experimentar dificultades cognitivas por recibir quimioterapia. Dicha alteración es denominada Deterioro Cognitivo Quimioinducido, también es conocida como Chemobrain o Chemofog. OBJETIVO: Identificar el perfil cognitivo y las características de la evaluación neuropsicológica de esta población. Método: Se consultaron las bases de datos PubMed, SpringerLink y SciELO. Se seleccionaron artículos de 1994 hasta septiembre de 2021. Fueron utilizadas palabras claves relacionadas con el tema de estudio. RESULTADOS: La quimioterapia puede producir un deterioro cognitivo entre el 15 y el 50% de las mujeres. Dicha alteración es de etiología múltiple y puede asociarse a factores biológicos y a cambios funcionales y/o estructurales del SNC. Se deben de considerar los factores sociodemográficos, clínicos y psicológicos como variables moduladoras. Se manifiesta principalmente en problemas de memoria, función ejecutiva, atención y velocidad de procesamiento. Esta alteración puede ser mensurada a través de los instrumentos de evaluación neuropsicológica disponibles. Discusión y conclusión: Se sugiere que la afectación cognitiva quimioinducida sea incorporada en el consentimiento informado. Se recomienda un mayor desarrollo de estudios longitudinales que se complementen con técnicas de neuroimágenes que permitan avanzar en el conocimiento de esta problemática. Se propone un protocolo de evaluación neuropsicológica, que incluye pruebas de screening, escalas clínicas, test neuropsicológicos específicos y de calidad de vida, según las recomendaciones del International Cognition and Cancer Task Force.
Assuntos
Neoplasias da Mama , Transtornos Cognitivos , Disfunção Cognitiva , Humanos , Feminino , Neoplasias da Mama/tratamento farmacológico , Qualidade de Vida/psicologia , Disfunção Cognitiva/induzido quimicamente , Disfunção Cognitiva/epidemiologia , Transtornos Cognitivos/induzido quimicamente , Transtornos Cognitivos/complicações , Transtornos Cognitivos/psicologia , CogniçãoRESUMO
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder associated with a wide spectrum of cognitive impairments that can often result in impaired academic, social and adaptive functioning. However, studies investigating TSC have found it difficult to determine whether TSC is associated with a distinct cognitive phenotype and more specifically which aspects of functioning are impaired. Furthermore, children with TSC living in low-income and middle-income countries, like South Africa, experience additional burdens due to low socio-economic status, high mortality rates and poor access to health care and education. Hence, the clinical population of South Africa may vary considerably from those populations from high-income countries discussed in the literature. METHODS: A comprehensive neuropsychological battery composed of internationally recognised measures examining attention, working memory, language comprehension, learning and memory, areas of executive function and general intellectual functioning was administered to 17 children clinically diagnosed with TSC. RESULTS: The exploration of descriptive data indicated generalised cognitive difficulties in most cognitive domains, aside from memory. With only two participants performing in the average to above-average ranges, the rest of the sample showed poor verbal comprehension, perceptual reasoning, working memory, processing speed, disinhibition, and problems with spatial planning, problem solving, frustration tolerance, set shifting and maintaining a set of rules. Furthermore, correlational findings indicated several associations between socio-demographic and cognitive variables. CONCLUSIONS: Importantly, this is the first study to comprehensively examine multiple domains of neurocognitive functioning in a low-resource setting sample of children with TSC. Current study findings showed that children with TSC have generalised impairments across several cognitive domains, rather than domain-specific impairments. Therefore, although examining individual aspects of cognition, such as those found in previous literature, is important, this approach is limiting. With a comprehensive assessment, including understanding the associations between domains, appropriate and directed support can be provided to ensure all aspects of development are addressed and considered.
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Transtornos Cognitivos , Disfunção Cognitiva , Esclerose Tuberosa , Humanos , Criança , Transtornos Cognitivos/complicações , África do Sul/epidemiologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/psicologia , Disfunção Cognitiva/complicações , Cognição/fisiologia , Testes NeuropsicológicosRESUMO
Obstructive sleep apnea (OSA) is characterized by repetitive episodes of complete or partial upper airway obstruction during sleep, with a worldwide estimate of 936 million sufferers. Treatments of OSA include continuous positive airway pressure (CPAP), weight loss, positional therapy, oral appliances, positive upper airway pressure, oro-maxillofacial surgery, hypoglossal nerve stimulation, and bariatric surgery, and others, with CPAP being the most commonly prescribed treatment. In this review, the neurologic conditions of stroke, cognitive decline, epilepsy, and migraines will be discussed as they relate to OSA. Additionally, the literature regarding improvement in these conditions following treatment with CPAP will be explored.
Assuntos
Apneia Obstrutiva do Sono , Humanos , Pressão Positiva Contínua nas Vias Aéreas , Epilepsia/complicações , Sono , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/terapia , Transtornos Cognitivos/complicações , Acidente Vascular Cerebral/complicações , Transtornos de Enxaqueca/complicaçõesRESUMO
Despite the relevance of cognitive deficits in fibromyalgia syndrome (FMS) and the attempts to elucidate the influence of the disorder symptoms in the cognitive decline reported by patients, no studies have explored the specific role of social support on cognition in FMS. Social support has been shown to be an essential modulator factor on cognitive performance in other diseases. Sixty-four women with FMS and 32 healthy women participated in the study and completed questionnaires pertaining to anxiety, depression, fatigue, insomnia, clinical pain, and social support, along with a neuropsychological battery assessing verbal memory, organization, strategic and planning abilities, self-regulation, processing speed, attention, and cognitive flexibility. Results showed that FMS patients exhibited lower values in all social support dimensions in comparison with healthy individuals, especially in the socializing dimension. Despite the lower social support observed in FMS, all social support dimensions showed a positive impact on verbal memory, organization and planning abilities, strategic planning, self-regulation, processing speed, attention, and cognitive flexibility in these patients. In fact, social support was associated with greater correct responses and processing speed and minor number of errors in all the neuropsychological battery tests. Socializing was the main predictor of organization and planning abilities, strategic planning, and self-regulation. In sum, results suggest that social support may be a key factor in buffering the cognitive decline observed in FMS. Designing psychoeducation programs and intervention programs directed not only to FMS patients but also relatives, health care workers, and the general population might be essential to improve the social support of FMS patients and positively impact on patient's cognitive status.
Assuntos
Transtornos Cognitivos , Disfunção Cognitiva , Fibromialgia , Cognição , Transtornos Cognitivos/complicações , Disfunção Cognitiva/complicações , Feminino , Fibromialgia/complicações , Fibromialgia/psicologia , Humanos , Apoio SocialRESUMO
BACKGROUND: Short- and long-term consequences after treatment for childhood fossa posterior tumors are extensively reported in the literature; however, papers highlighting physical function throughout rehabilitation and its correlation with Intelligence Quotient (IQ) are sparse. This study aims to describe the physical functioning and IQ of these survivors, their progression during rehabilitation, and the association with histopathological tumor classification. Additionally, the correlation between gross motor functioning and cognitive functioning was investigated. METHODS: This retrospective single-center cohort study included 56 children (35 (62.5%) males and 21 (37.5%) females, with an average age of 6.51 years (SD 4.13)) who followed a multidisciplinary program at the Child Rehabilitation Centre, Ghent University Hospital in the period from 2005 to 2020. Descriptive statistical analysis was performed with the use of non-parametric tests and linear regression to determine the relationship between gross motor functioning and IQ. RESULTS: This report shows impaired motor and intelligence performance in children with a fossa posterior tumor. Although multidisciplinary rehabilitation is beneficial, it is not able to counteract the further decline of several motor skills and intelligence during oncological treatment, more specifically in children with a medulloblastoma. A correlation between gross motor function and total IQ was found. CONCLUSION: Pediatric survivors of a fossa posterior tumor experience impaired physical and intellectual functions, with more decline during oncological treatment despite simultaneous multidisciplinary rehabilitation.
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Neoplasias Cerebelares , Transtornos Cognitivos , Neoplasias Infratentoriais , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/patologia , Criança , Transtornos Cognitivos/complicações , Estudos de Coortes , Feminino , Humanos , Neoplasias Infratentoriais/complicações , Neoplasias Infratentoriais/patologia , Inteligência , Testes de Inteligência , Masculino , Estudos Retrospectivos , SobreviventesRESUMO
Asthenia is a clinical syndrome that nearly any somatic and neurological pathologies can manifest with. Being is essence a defense mechanism that signals the depletion of energy resources, asthenia can become a pathological, extremely disabling condition, and even transform into a nosology of its own - the chronic fatigue syndrome, an immune-mediated disease. Besides, asthenia is often combined with affective and cognitive disorders, which facilitates difficulties in the establishing of the primary diagnosis. In this article we examine the complicated weave of asthenia, chronic fatigue syndrome, cognitive, and affective disorders.
Assuntos
Transtornos Cognitivos , Síndrome de Fadiga Crônica , Astenia/diagnóstico , Astenia/etiologia , Cognição , Transtornos Cognitivos/complicações , Síndrome de Fadiga Crônica/diagnóstico , Síndrome de Fadiga Crônica/etiologia , Humanos , Transtornos do Humor/complicaçõesRESUMO
Altered mental status (AMS) comprises a group of clinical symptoms rather than a specific diagnosis, and includes cognitive disorders, attention disorders, arousal disorders, and decreased level of consciousness. Patients often manifest vague symptoms, thus, AMS diagnosis and treatment are highly challenging for general medicine physicians. MATERIAL: This was an observational cross-sectional analytical study. This study will be conducted in Department of General Medicine, SMS Medical College and attached group of hospitals, Jaipur, Rajasthan, India. Duration of this study was 1 year. We analysed 150 cases in this study. OBSERVATION: We found that mean age for this study was 55.1 years. Major co-morbidity was Hypertension, ALD/CLD/PHTN, T2DM and carcinoma lung with 46.6%, 25.3%, 22.6% and 18% respectively. We found that 81.3% patients are non-alcoholic followed by 50% non-smoker. In our study 52.6% patients had structural Neurological aetiology followed by 17.3% of CO2 Narcosis, 10% patients had hepatic encephalopathy. 5.3% patients were having hypoglycemia and 4.6% were having hyponatremia. In brain MRI we found that 22.6% patients are of CVA ICH, 16.6% patients with CVA Infarct and 3.3% patients of hypoxic ischemic brain injury. CONCLUSION: In our study, we found that neurological causes for altered sensorium were more common than primary non-neurological diseases. Though neuroimaging was helpful in large number of patients, good history, thorough physical examination & laboratory reports also were vital in establishing diagnosis.
Assuntos
Transtornos Cognitivos , Encefalopatia Hepática , Transtornos Cognitivos/complicações , Transtornos da Consciência/etiologia , Estudos Transversais , Humanos , Índia/epidemiologia , Pessoa de Meia-IdadeRESUMO
Traumatic brain injury (TBI) is a major contributor to death and disability worldwide. Children are at particularly high risk of both sustaining a TBI and experiencing serious long-term consequences, such as cognitive deficits, mental health problems and post-traumatic epilepsy. Severe TBI patients are highly susceptible to nosocomial infections, which are mostly acquired within the first week of hospitalization post-TBI. Yet the potential chronic impact of such acute infections following pediatric TBI remains unclear. In this study, we hypothesized that a peripheral immune challenge, such as lipopolysaccharide (LPS)-mimicking a hospital-acquired infection-would worsen inflammatory, neurobehavioral, and seizure outcomes after experimental pediatric TBI. To test this, three-week old male C57Bl/6J mice received a moderate controlled cortical impact or sham surgery, followed by 1 mg/kg i.p. LPS (or 0.9% saline vehicle) at 4 days TBI. Mice were randomized to four groups; sham-saline, sham-LPS, TBI-saline or TBI-LPS (n = 15/group). Reduced general activity and increased anxiety-like behavior were observed within 24 h in LPS-treated mice, indicating a transient sickness response. LPS-treated mice also exhibited a reduction in body weights, which persisted chronically. From 2 months post-injury, mice underwent a battery of tests for sensorimotor, cognitive, and psychosocial behaviors. TBI resulted in hyperactivity and spatial memory deficits, independent of LPS; whereas LPS resulted in subtle deficits in spatial memory retention. At 5 months post-injury, video-electroencephalographic recordings were obtained to evaluate both spontaneous seizure activity as well as the evoked seizure response to pentylenetetrazol (PTZ). TBI increased susceptibility to PTZ-evoked seizures; whereas LPS appeared to increase the incidence of spontaneous seizures. Post-mortem analyses found that TBI, but not LPS, resulted in robust glial reactivity and loss of cortical volume. A TBI × LPS interaction in hippocampal volume suggested that TBI-LPS mice had a subtle increase in ipsilateral hippocampus tissue loss; however, this was not reflected in neuronal cell counts. Both TBI and LPS independently had modest effects on chronic hippocampal gene expression. Together, contrary to our hypothesis, we observed minimal synergy between TBI and LPS. Instead, pediatric TBI and a subsequent transient immune challenge independently influenced chronic outcomes. These findings have implications for future preclinical modeling as well as acute post-injury patient management.
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Lesões Encefálicas Traumáticas , Transtornos Cognitivos , Animais , Masculino , Camundongos , Lesões Encefálicas Traumáticas/metabolismo , Transtornos Cognitivos/complicações , Modelos Animais de Doenças , Camundongos Endogâmicos C57BL , Convulsões/etiologia , Memória EspacialRESUMO
BACKGROUND: Pilocytic astrocytoma is the most common brain tumour type in childhood located in the posterior fossa, and treated mainly with surgery. These tumours have low mortality, but knowledge concerning its long-term outcome is sparse. AIM: The aim of this study was to investigate whether children treated for pilocytic astrocytoma in the posterior fossa had late complications affecting cognition, language and learning. METHODS: This descriptive single-centre study includes eight children and 12 adults treated as children for pilocytic astrocytoma in the posterior fossa, with a mean follow-up time of 12.4 (range 5-19) years. Well-established tests of intelligence, executive, language and academic function were used. RESULTS: Intelligence tests showed average results compared with norms. Five patients scored <-1 SD (70-84) and 3 low average (85-92) on full scale IQ. The patients scored average on subtests regarding executive function, except for significantly lower results in inhibition/switching (p = .004). In Rey complex figure test half of the patients scored below -1 SD. Language tests were normal except for significantly lower results in naming ability (p = .049) and in inference (p = .046). In academic tests, results were average, except for significantly lower results in reading speed (p = .024). Patients with learning difficulties performed worse in the tests. CONCLUSIONS: The patients' functional outcome was favourable but, a not-negligible part of the patients displayed neurocognitive difficulties as revealed by extensive neuro-cognitive and academic testing. Thus, it is important to identify those in need of more thorough cognitive and pedagogic follow-up programmes, including school interventions.
Assuntos
Astrocitoma , Neoplasias Encefálicas , Transtornos Cognitivos , Astrocitoma/complicações , Astrocitoma/patologia , Astrocitoma/terapia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Criança , Cognição , Transtornos Cognitivos/complicações , Humanos , Idioma , Adulto JovemRESUMO
BACKGROUND: In older patients with advanced chronic kidney disease (CKD), the decision of kidney transplantation (KT) is a challenge for nephrologists. The use of comprehensive geriatric assessment (CGA) is increasingly gaining interest into the process of decision-making about treatment modality choice for CKD. The aim of this study was to assess the prevalence of geriatric impairment and frailty in older dialysis and nondialysis patients with advanced CKD using a pretransplant CGA model and to identify geriatric impairments influencing the geriatricians' recommendations for KT. METHODS: An observational study was conducted with retrospective data from July 2017 to January 2020. Patients aged ≥65 years with advanced CKD, treated or not with dialysis, and referred by the nephrologist were included in the study. The CGA assessed comorbidity burden, cognition, mood, nutritional status, (instrumental) activities of daily living, physical function, frailty, and polypharmacy. Geriatric impairments influencing the geriatricians' recommendations for KT were identified using univariate and multivariate logistic regressions. RESULTS: 156 patients were included (74.2 ± 3.5 years and 62.2% on dialysis). Geriatric conditions were highly prevalent in both dialysis and nondialysis groups. The rate of geriatric impairments was higher in dialysis patients regarding comorbidity burden, symptoms of depression, physical function, autonomy, and frailty. Geriatrician's recommendations for KT were as follows: favorable (79.5%) versus not favorable or multidisciplinary discussion needed with nephrologists (20.5%). Dependence for Instrumental Activities of Daily Living (IADL) (odds ratio [OR] = 3.01 and 95% confidence interval [CI] = 1.30-7.31), physical functions (OR = 2.91 and 95% CI = 1.08-7.87), and frailty (OR = 2.66 and 95% CI = 1.07-6.65) were found to be independent geriatric impairments influencing geriatrician's recommendations for KT. CONCLUSIONS: Understanding the burden of geriatric impairment provides an opportunity to direct KT decision-making and to guide interventions to prevent functional decline and preserve quality of life.
Assuntos
Avaliação Geriátrica/métodos , Transplante de Rim , Insuficiência Renal Crônica/patologia , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/complicações , Feminino , Idoso Fragilizado , Humanos , Masculino , Estado Nutricional , Qualidade de Vida , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/cirurgiaRESUMO
Cognitive complaints after chemotherapy are common in breast cancer patients, but the neural bases for these complaints remain unclear. This pilot study explored resting-state functional connectivity (FC) as a marker of subtle cognitive changes in breast cancer patients who experience cognitive complaints. Chemotherapy-treated (n = 20, at least 6 months off therapy) and untreated (n = 17, disease-control) female breast cancer patients with cognitive complaints and healthy controls (n = 20) were recruited. The FC of the right dorsolateral prefrontal cortex was calculated, and any correlations between this FC and neuropsychological assessments were determined. Chemotherapy-treated patients with cognitive complaints displayed increased FC between the right dorsolateral prefrontal cortex and both the contralateral cerebellar lobule VII and the cerebellar vermis XI, compared to the disease-control and healthy-control groups, despite unimpaired neuropsychological performance. The increased FC was negatively correlated with executive function and attention in breast cancer survivors with cognitive complaints. Our pilot study findings provide evidence that cerebellar-cortical FC changes may be a pathophysiological basis for chemotherapy-related cognitive complaints. In addition, the FC changes have the potential to reflect minor or compensated cognitive function impairment in breast cancer patients.
Assuntos
Antineoplásicos/farmacologia , Neoplasias da Mama/complicações , Neoplasias da Mama/fisiopatologia , Cerebelo/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Transtornos Cognitivos/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Mapeamento Encefálico , Sobreviventes de Câncer , Cerebelo/fisiopatologia , Córtex Cerebral/fisiopatologia , Cognição , Disfunção Cognitiva/fisiopatologia , Função Executiva/fisiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Vias Neurais/fisiopatologia , Testes Neuropsicológicos , Projetos Piloto , Córtex Pré-FrontalRESUMO
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the glycosaminoglycans dermatan and heparan sulfate (DS and HS, respectively). Lack of the enzyme leads to pathologic accumulation of undegraded HS and DS with subsequent disease manifestations in multiple organs. The disease can be divided into severe (Hurler syndrome) and attenuated (Hurler-Scheie, Scheie) forms. Currently approved treatments consist of enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). Patients with attenuated disease are often treated with ERT alone, while the recommended therapy for patients with Hurler syndrome consists of HSCT. While these treatments significantly improve disease manifestations and prolong life, a considerable burden of disease remains. Notably, treatment can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment. This review discusses these standard therapies and their impact on common disease manifestations in patients with MPS I. Where relevant, results of animal models of MPS I will be included. Finally, we highlight alternative and emerging treatments for the most common disease manifestations.
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Terapia de Reposição de Enzimas/métodos , Transplante de Células-Tronco Hematopoéticas/métodos , Iduronidase/biossíntese , Mucopolissacaridose I/fisiopatologia , Mucopolissacaridose I/terapia , Animais , Doenças Ósseas/complicações , Doenças Ósseas/terapia , Transtornos Cognitivos/complicações , Transtornos Cognitivos/terapia , Feminino , Glicosaminoglicanos/metabolismo , Perda Auditiva/complicações , Perda Auditiva/terapia , Cardiopatias/complicações , Cardiopatias/terapia , Humanos , Masculino , Amplitude de Movimento Articular , Transplante de Células-Tronco/métodos , Transplante HomólogoRESUMO
Attention span, which has been shown to have an impact on reading quality in many other conditions, is one of the main cognitive disorders of neurofibromatosis type 1 (NF1). The aim of this work is to observe the impact of attention on reading comprehension, in NF1 and non-NF1 children. A multicenter, cross-sectional study was conducted on 150 children (8-12 years old) with or without NF1 (75 NF1 vs 75 non-NF1; 72 female, 78 male), matched for age, sex, handedness, and reading level, thus forming a continuum from good to poor readers in both NF1 and non-NF1 groups. Children with intellectual deficiency or neurologic or psychiatric disorder were excluded. Attentional skills were assessed by combining a parent questionnaire (Child Behavior CheckList) and a performance-based assessment (Conner's Continuous Performance Test-Second Edition). Reading comprehension was assessed through a standardized reading comprehension test (ORLEC Lobrot). The performance-based attention scores were associated with text and sentence comprehension ability (P = .0235 and P = .0164, respectively), while indirect questionnaire attention scores were only associated with sentence comprehension (P = .0263). For both groups, the correlations between questionnaire and performance-based measures were low. We have shown that reading comprehension is greatly influenced by attention in NF1 and non-NF1, even if predictors of good reading comprehension also include IQ score and reading accuracy. Indirect observer-rated questionnaires and direct performance-based measures of attention do not assess the same variables, are linked to different components of reading skills, and are not interchangeable assessments of attention difficulties. Both assessments are complementary and must be used simultaneously, leading to recommendations that support multimodal assessment of attention.
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Atenção/fisiologia , Transtornos Cognitivos/diagnóstico , Compreensão/fisiologia , Neurofibromatose 1/fisiopatologia , Testes Neuropsicológicos/estatística & dados numéricos , Leitura , Criança , Transtornos Cognitivos/complicações , Transtornos Cognitivos/fisiopatologia , Estudos Transversais , Feminino , Humanos , Masculino , Neurofibromatose 1/complicaçõesRESUMO
The incidence of hepatopancreatobiliary (HPB) cancers is increasing worldwide. Despite improvements in cancer surveillance and earlier access to therapy, these cancers still have poor survival rates, especially in elderly patients. There are several challenges in elucidating the epidemiology of these malignancies especially in view of the heterogeneous exposure to recognised risk factors and the coding systems used. Early diagnosis, crucial to improved survival, remains challenging as many patients present sporadically. Furthermore, the indolent nature of these tumours means they tend to present late, when curative treatments are no longer an option. Importantly, even when patients are diagnosed early and treated with curative intent, recurrence rates remain high. HPB cancers display a heterogenous molecular profile resulting in poorly effective systemic therapies in patients for whom curative treatments cannot be considered. Globally, people now live longer, and it is predicted that the population of individuals older than 85 will double by 2033. With increasing age comes increased cancer risk. There is a plethora of recognised challenges in elderly patients presenting with cancer and this is no different with HPB cancers. Complex co-morbidities including chronic disease, polypharmacy, cognitive decline and increasing psychosocial needs confer an extra layer of complexity in the management of this elderly sub population. The frailty that usually accompanies advancing age often means that patients take longer to recover and develop more complications after cancer therapies. In this article, we review the epidemiology of malignant HPB tumours with a focus on the elderly.
Assuntos
Neoplasias do Sistema Biliar/epidemiologia , Neoplasias Hepáticas/epidemiologia , Neoplasias Pancreáticas/epidemiologia , Idoso , Neoplasias do Sistema Biliar/terapia , Transtornos Cognitivos/complicações , Comorbidade , Fragilidade , Humanos , Incidência , Neoplasias Hepáticas/terapia , Neoplasias Pancreáticas/terapia , Polimedicação , Fatores de RiscoRESUMO
INTRODUCTION: Neurocognitive impairment associated to human immunodeficiency virus (HIV) is a current problem despite the effectiveness of antiretroviral treatment. The screening tests which best suit to Spanish population are Brief Neuro-cognitive Scale (BNCS) and Neu Screening. We are unaware of our HIV population' neurocognitive impairment magnitude. AIMS: To verify if association between HIV and neurocognitive impairment does exist and to know its prevalence. SUBJECTS AND METHODS: An observational, descriptive and transversal study comparing 24 HIV-outpatients and 21 non-HIV-healthy control matched by age, gender and educational level. Hospital Anxiety and Depression Scale, Neu Screening and BNCS were used as neurocognitive impairment screening. Positive screening was considered with one or more abnormal test. RESULTS: 33.3% of VIH+ and 33.3% of healthy controls had positive screening without significant difference between both populations. Positive screening was significantly associated with anxiety-punctuation and depression-punctuation. A lineal correlation between CD4-nadir-levels and Digit Symbol and between CD4-nadir-levels and verbal fluency results were found. There was no significant relationship between HIV serology and screening result. CONCLUSIONS: HIV-patients clinically controlled had no significantly different neurocognitive profile compared to control population. CD4-nadir levels may be a predictor variable in terms of neurocognitive impairment development. BNCS and Neu Screening are reasonable alternatives for neurocognitive impairment screening. A concomitant psychiatric and neuro-psychological assessment is necessary. Further studies with bigger samples are necessary in order to confirm the alternative hypothesis.
TITLE: Cribado neurocognitivo en población con virus de inmunodeficiencia adquirida.Introducción. El trastorno neurocognitivo asociado al virus de la inmunodeficiencia humana (VIH) es un problema emergente a pesar del tratamiento antirretroviral. Los test de cribado que mejor se adaptan a la población española son la Brief Neurocognitive Scale (BNCS) y el Neu Screening. Desconocemos la magnitud del trastorno neurocognitivo en la población con VIH. Objetivos. Comprobar si existe asociación entre la infección por el VIH y el trastorno neurocognitivo, y conocer su prevalencia. Sujetos y métodos. Estudio observacional, descriptivo y transversal que compara a 24 pacientes con VIH y a 21 controles sanos, pareados por sexo, edad y nivel de estudios. Se utilizó la Hospital Anxiety and Depression Scale, el Neu Screening y la BNCS para el cribado neuropsicológico. Se consideró positivo un cribado con una alteración en uno o más test. Resultados. Un 33,3% de los pacientes con VIH y un 33,3% de los controles sanos tuvieron un cribado positivo, sin diferencias significativas entre ambos grupos. El cribado positivo presentó una relación significativa con ansiedad y depresión. Existe una correlación lineal positiva entre niveles nadir de CD4 y resultados del Digit Symbol, y entre nadir de CD4 y fluencia verbal. No hubo relación significativa entre VIH positivo y cribado positivo. Conclusiones. Los pacientes con VIH con buen control clínico presentan un perfil neurocognitivo sin diferencias significativas frente a la población control. Los niveles de CD4 son posiblemente una variable predictora para el desarrollo de trastorno neurocognitivo. La BNCS y el Neu Screening son buenas alternativas, pero resulta necesario un abordaje neuropsiquiátrico concomitante. Se precisan estudios con muestras mayores para confirmar la hipótesis alternativa.
Assuntos
Transtornos de Ansiedade , Transtornos Cognitivos , Infecções por HIV , Programas de Rastreamento , Transtornos de Ansiedade/complicações , Transtornos de Ansiedade/diagnóstico , Estudos de Casos e Controles , Transtornos Cognitivos/complicações , Transtornos Cognitivos/diagnóstico , Feminino , Infecções por HIV/complicações , Humanos , Masculino , Testes NeuropsicológicosRESUMO
ABSTRACT Background: Central nervous system changes associated to systemic arterial hypertension (SAH) are progressive and may cause negative effects on cognitive performance. The objective of this study was to investigate the relation between SAH and the components of executive functions (EF), inhibitory control (IC), updating and shifting, comparing a control group (without SAH) to patients with SAH, in two levels of severity. Methods: The protocol included the following tests to evaluate EF components: T.O.V.A. Test (IC), Backward Digit Span from Wechsler Adults Intelligence Scale (WAIS-III), Phonemic and Semantic Verbal Fluency (updating), and Trail Making Test Part B (shifting). Results: A total of 204 participants was included: 56 from the Control Group (CG), 87 SAH stage 1, and 61 SAH stage 2. The groups were not different for age (52.37±12.29) and education (10.98±4.06). As to controlled blood pressure (BP), duration of hypertension treatment and number of drugs, the SAH 2 group had a worse BP control, longer duration of hypertension treatment and use of more drugs when compared to the SAH 1. The findings revealed that patients with more severe hypertension presented worse performance in updating (Backward Digit Span, phonemic and semantics VF) and shifting (Trail Making Test Part B). Conclusion: The results suggest that patients with SAH have a significant impairment in EF, more specifically in updating and shifting. Besides that, such damage may be directly proportional to the severity of SAH. It is suggested that future studies include neuroimaging exams to exclude possible cerebrovascular diseases.
RESUMO Introdução: As alterações do sistema nervoso central associadas à hipertensão arterial sistêmica (HAS) são progressivas e podem ocasionar efeitos negativos no desempenho cognitivo. O objetivo deste estudo foi investigar a relação entre a HAS e os componentes das funções executivas (FE), controle inibitório (CI), atualização e alternância, comparando um grupo controle (sem HAS) a pacientes com HAS, em dois níveis de gravidade. Métodos: O protocolo incluiu os seguintes testes para avaliar os componentes das FE: T.O.V.A. Test (CI), Dígitos Ordem Indireta da Escala de Inteligência Wechsler para Adultos (Wechsler Adults Intelligence Scale - WAIS-III), Fluência Verbal fonêmica e semântica (atualização) e Teste de Trilhas parte B (alternância). Resultados: Foram incluídos 204 participantes, sendo 56 do Grupo Controle (GC), 87 HAS estágio 1 (HAS 1) e 61 de HAS estágio 2 (HAS 2). Os grupos não foram diferentes em relação à idade (52,37±12,29) e escolaridade (10,98±4,06). Em relação à pressão arterial (PA) controlada, tempo de tratamento da HAS e número de medicações, o grupo HAS 2 apresentou pior controle de PA, mais tempo de tratamento da HAS e uso de maior número de medicações quando comparado ao grupo HAS 1. Os achados revelaram que os pacientes com HAS em estágio mais grave apresentaram pior desempenho nos testes de alternância (Teste de Trilhas parte B) e atualização (Dígitos Ordem Indireta, FV fonêmica e semântica). Conclusão: Esses resultados sugerem que pacientes com a HAS possuem prejuízo significativo em FE, especificamente em alternância e atualização, e que esse prejuízo pode ser diretamente proporcional à gravidade da HAS. Sugere-se que, em estudos futuros, incluam-se exames de neuroimagem com o objetivo de excluir possíveis doenças cerebrovasculares.
Assuntos
Humanos , Adulto , Cognição/fisiologia , Transtornos Cognitivos/complicações , Função Executiva/fisiologia , Hipertensão/fisiopatologia , Teste de Sequência Alfanumérica , Testes NeuropsicológicosRESUMO
Amyloid ß (Aß) is a peptide fragment of the amyloid precursor protein that triggers the progression of Alzheimer's Disease (AD). It is believed that Aß contributes to neurodegeneration in several ways, including mitochondria dysfunction, oxidative stress and brain insulin resistance. Therefore, protecting neurons from Aß-induced neurotoxicity is an effective strategy for attenuating AD pathogenesis. Recently, applications of stem cell-based therapies have demonstrated the ability to reduce the progression and outcome of neurodegenerative diseases. Particularly, Nanog is recognized as a stem cell-related pluripotency factor that enhances self-renewing capacities and helps reduce the senescent phenotypes of aged neuronal cells. However, whether the upregulation of Nanog can be an effective approach to alleviate Aß-induced neurotoxicity and senescence is not yet understood. In the present study, we transiently overexpressed Nanog-both in vitro and in vivo-and investigated the protective effects and underlying mechanisms against Aß. We found that overexpression of Nanog is responsible for attenuating Aß-triggered neuronal insulin resistance, which restores cell survival through reducing intracellular mitochondrial superoxide accumulation and cellular senescence. In addition, upregulation of Nanog expression appears to increase secretion of neurotrophic factors through activation of the Nrf2 antioxidant defense pathway. Furthermore, improvement of memory and learning were also observed in rat model of Aß neurotoxicity mediated by upregulation of Nanog in the brain. Taken together, our study suggests a potential role for Nanog in attenuating the neurotoxic effects of Aß, which in turn, suggests that strategies to enhance Nanog expression may be used as a novel intervention for reducing Aß neurotoxicity in the AD brain.
Assuntos
Peptídeos beta-Amiloides/toxicidade , Resistência à Insulina , Proteína Homeobox Nanog/metabolismo , Neurônios/metabolismo , Neurônios/patologia , Estresse Oxidativo/efeitos dos fármacos , Células-Tronco Pluripotentes/metabolismo , Animais , Apoptose/efeitos dos fármacos , Encéfalo/patologia , Linhagem Celular Tumoral , Senescência Celular/efeitos dos fármacos , Transtornos Cognitivos/complicações , Transtornos Cognitivos/patologia , Humanos , Insulina/metabolismo , Masculino , Transtornos da Memória/complicações , Transtornos da Memória/patologia , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/metabolismo , Neurônios/efeitos dos fármacos , Neuroproteção/efeitos dos fármacos , Fosforilação/efeitos dos fármacos , Ratos Wistar , Transdução de Sinais/efeitos dos fármacos , Superóxidos/metabolismo , Regulação para Cima/efeitos dos fármacos , Proteínas tau/metabolismoRESUMO
OBJECTIVES: Commonly used cognitive screening tools were not originally developed for patients with hearing loss (HL) and rely heavily on the ability to hear the instructions and test stimuli. Recently, the Montreal Cognitive Assessment (MoCA) was modified for use with hearing-impaired populations (ie, HI-MoCA). In order to investigate the clinical utility of the HI-MoCA, we assessed performance between the standard MoCA and HI-MoCA among postlingually deafened cochlear implant (CI) users. METHODS: We administered the standard MoCA and HI-MoCA to 21 CI users and compared their performance. We assessed differences in pass/fail status when items from the attention and language sections and the delayed recall task were removed. RESULTS: There was no significant difference in performance between the standard MoCA and HI-MoCA. Participants scored higher on both test versions when the delayed recall task was removed. Participants also performed better on the delayed recall task on the HI-MoCA than on the standard MoCA. CONCLUSIONS: While our findings suggest that the modality of presentation for the MoCA does not influence overall performance for postlingually deafened CI users, visual presentation of stimuli impacted performance on delayed recall. Furthermore, irrespective of presentation modality, our participants scored higher on both MoCA versions when the delayed recall task was removed. Clinically, modifications to the presentation of the MoCA might not be necessary for CI users; however, clinicians should be aware that the delayed recall task is inherently harder for these patients.