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1.
Psychopathology ; 57(3): 169-181, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38467115

RESUMEN

INTRODUCTION: The COVID-19 pandemic had significant repercussions for the everyday life and public health of society. Healthcare professionals were particularly vulnerable. Here, we interviewed medical residents about their lived experiences during the pandemic to offer a phenomenological analysis. To this end, we discuss their pandemic experiences considering Jaspers' "limit situation" concept - that is, a radical shift from their everyday experiences, to one causing them to question the basis of their very existence. METHODS: We interviewed 33 medical residents from psychiatry and other specialties from the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP) who either (a) worked directly with COVID-19 patients or (b) provided psychiatric care to other healthcare professionals. Semi-structured interviews were developed using the Inductive Process to Analyze the Structure of lived Experience (IPSE). RESULTS: The descriptions of the lived experiences of medical residents during the pandemic were organized into four content themes: (a) existential defense, (b) limit situations during the COVID-19 pandemic, (c) changes in lived experience, and (d) new world meanings through lived experience. CONCLUSION: During the COVID-19 pandemic, medical residents experienced what can be thought of as a "limit situation," as they encountered the healthcare delivery challenges coupled with the social isolation imposed by the COVID-19 pandemic. These challenges included fear of infection and potential death, uncertainty about the future, and the emotional overload caused by the sharp increase in patient deaths. That said, after facing such a limit situation, residents reported feeling strengthened by this experience. This is consistent with the notion that when confronted with limit situations, we draw on our resources to overcome adversity and, in turn, reap existential gains. Health care providers might use these experiences to energize their own professional approach.


Asunto(s)
COVID-19 , Internado y Residencia , Médicos , Brasil , COVID-19/psicología , Acontecimientos que Cambian la Vida , Médicos/psicología , Psiquiatría , Entrevistas como Asunto , Existencialismo/psicología , Mecanismos de Defensa , Ansiedad/psicología , Humanos , Masculino , Femenino
2.
Neuroradiol J ; 37(1): 60-67, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37915211

RESUMEN

BACKGROUND: Multiple sclerosis (MS) is an important cause of acquired neurological disability in young adults, characterized by multicentric inflammation, demyelination, and axonal damage. OBJECTIVE: The objective is to investigate white matter (WM) damage progression in a Brazilian MS patient cohort, using diffusion tensor imaging (DTI) post-processed by tract-based spatial statistics (TBSS). METHODS: DTI scans were acquired from 76 MS patients and 37 sex-and-age matched controls. Patients were divided into three groups based on disease duration. DTI was performed along 30 non-collinear directions by using a 1.5T imager. For TBSS analysis, the WM skeleton was created, and a 5000 permutation-based inference with a threshold of p < .05 was used, to enable the identification of abnormalities in fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD). RESULTS: Decreased FA and increased RD, MD, and AD were seen in patients compared to controls and a decreased FA and increased MD and RD were seen, predominantly after the first 5 years of disease, when compared between groups. CONCLUSION: Progressive WM deterioration is seen over time with a more prominent pattern after 5 years of disease onset, providing evidence that the early years might be a window to optimize treatment and prevent disability.


Asunto(s)
Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Sustancia Blanca , Adulto Joven , Humanos , Sustancia Blanca/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Imagen de Difusión Tensora/métodos , Brasil , Anisotropía , Encéfalo
3.
Rev. bras. geriatr. gerontol. (Online) ; 27: e230232, 2024. tab, graf
Artículo en Portugués | LILACS-Express | LILACS | ID: biblio-1559540

RESUMEN

Resumo Objetivo Avaliar associações entre a média da tireotropina (TSH) e tiroxina livre (T4L) mantida durante follow-up, e mortalidade em pacientes idosos eutireoidianos definidos de acordo com a faixa de referência específica para a idade (FR-e) do TSH. Método Coorte retrospectiva tipo análise de sobrevivência incluindo pacientes idosos eutireoidianos acompanhados no ambulatório de hospital universitário entre 2010 e 2013. Todos os participantes haviam sido avaliados quanto ao risco de incapacidade funcional como critério para admissão nesse ambulatório. As médias dos valores de TSH e T4L foram calculadas através das dosagens obtidas no período de acompanhamento. Cada FR-e de TSH foi dividida em quatro partes iguais, considerando níveis mais baixos como variável de exposição (≤1,75 mUI/L para <80 e ≤2,0 mUI/L para ≥80 anos). Os níveis de T4L foram dicotomizados em duas categorias (< e ≥1,37 ng/dL). O desfecho foi o tempo até a morte. A regressão de risco proporcional de Cox foi empregada para estimar a hazard ratio (HR) e o intervalo de confiança (IC) de 95% Resultados 285 participantes (73% mulheres, idade média =80,4 anos) seguidos pela mediana de 5,7 anos (IQR =3,7-6,4; máximo =7), sendo que 114 faleceram. Após o modelo final ajustado, a mortalidade esteve associada ao TSH no limite inferior (HR=1,7; IC=1,1-2,7; p=0,016) e ao T4L mais elevado. (HR=2,0; IC=1,0-3,8; p=0,052). Conclusão Níveis médios de T4L mais altos e de TSH mais baixos foram associados ao risco de morte em coorte de idosos eutireoidianos usando FR-e de TSH.


Abstract Objective To assess the associations between the mean thyrotropin (TSH) and mean free thyroxine (FT4), detected during follow-up, and mortality in a group of older euthyroid patients according to age-specific reference range (as-RR) for TSH. Method Retrospective survival analysis cohort including euthyroid elderly patients who were being monitored at the outpatient clinic of a university hospital from 2010 to 2013. All participants had been assessed for the risk of functional disability as a criterion for admission to this outpatient clinic. Mean TSH and FT4 values were calculated using hormone dosages obtained during the follow-up period. Each as-RR for TSH was divided into four equal parts, considering the lower levels as the main exposure variable (≤1.75 mlU/L for <80, and ≤2.0 mlU/L for ≥80 years). FT4 levels were explored according to two categories (< e ≥1.37 ng/dL). The outcome was time to death. We used Cox proportional hazard regression to estimate the hazard ratio (HR) and 95% confidence interval (CI). Results 285 participants (73% females, mean age =80.4 years) followed by a median of 5.7 years (IQR =3.7-6.4; maximum =7), of which 114 died. After the adjusted final model, mortality was associated with the lowest mean TSH (HR=1.7; CI=1.1-2.7; p=0.016) and with the upper mean of FT4 (HR=2.0; CI=1.0-3.8; p=0.052). Conclusions Higher FT4 and lower TSH mean levels were associated with risk of death in a cohort of euthyroid older adults using an as-RR of TSH.

4.
Nat Rev Neurol ; 20(1): 36-49, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38114648

RESUMEN

Huntington disease (HD)-like 2 (HDL2) is a rare genetic disease caused by an expanded trinucleotide repeat in the JPH3 gene (encoding junctophilin 3) that shows remarkable clinical similarity to HD. To date, HDL2 has been reported only in patients with definite or probable African ancestry. A single haplotype background is shared by patients with HDL2 from different populations, supporting a common African origin for the expansion mutation. Nevertheless, outside South Africa, reports of patients with HDL2 in Africa are scarce, probably owing to limited clinical services across the continent. Systematic comparisons of HDL2 and HD have revealed closely overlapping motor, cognitive and psychiatric features and similar patterns of cerebral and striatal atrophy. The pathogenesis of HDL2 remains unclear but it is proposed to occur through several mechanisms, including loss of protein function and RNA and/or protein toxicity. This Review summarizes our current knowledge of this African-specific HD phenocopy and highlights key areas of overlap between HDL2 and HD. Given the aforementioned similarities in clinical phenotype and pathology, an improved understanding of HDL2 could provide novel insights into HD and other neurodegenerative and/or trinucleotide repeat expansion disorders.


Asunto(s)
Corea , Trastornos del Conocimiento , Demencia , Enfermedad de Huntington , Humanos , Enfermedad de Huntington/metabolismo , Corea/complicaciones , Corea/genética , Corea/patología , Demencia/genética , Trastornos del Conocimiento/patología
5.
Serv. soc. soc ; 146(1): 56-74, 2023.
Artículo en Portugués | LILACS-Express | LILACS | ID: biblio-1424622

RESUMEN

Resumo: O artigo busca contribuir para o avanço do debate sobre a formação da sociedade brasileira e a questão racial no Serviço Social. Para tanto, parte de elaborações tecidas pelo pensamento social negro sobre a formação social do Brasil. A reflexão teórica apresentada se baseia em revisão bibliográfica em livros, artigos, teses e dissertações, concluindo que, embora esse pensamento não seja homogêneo, apresenta subsídios fundamentais para o entendimento das estruturas de exploração e opressão no país.


Abstract: The article seeks to contribute to the advancement of the debate on the formation of Brazilian society and the racial issue in Social Work. To do so, it starts from elaborations woven by black social thought on the social formation of Brazil. The theoretical reflection presented is based on a bibliographic review of books, articles, theses and dissertations, concluding that, although this thinking is not homogeneous, it presents fundamental subsidies for the understanding of the structures of exploitation and oppression in the country.

6.
Appl Neuropsychol Adult ; 29(2): 223-233, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-32149528

RESUMEN

Huntington Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. HDL2 is the Huntington Disease (HD) phenocopy that has the greatest clinical resemblance to HD. Both are characterized by movement, psychiatric and cognitive dysfunction, which progress to dementia. The present study compared the neuropsychological profile of HDL2 with that of HD. Using a Single Case-Control Methodology in Neuropsychology, three HDL2 and seven matched HD patients were assessed with a comprehensive neuropsychological battery and compared to matched control samples, considering age, years of education, type of school (public/government) and language (all bi/multilingual). Potential double dissociations were explored by using Crawford, Garthwaite, and Wood's Inferential Methods for Comparing the Scores of Two Single-Cases in Case-Control Designs. Double dissociation between HDL2 and HD were identified in three tests, namely Letter Number Sequencing, Rey Auditory Learning Test Delayed and Recognition Trials. These dissociations possible are due to methodological limitations.


Asunto(s)
Corea , Demencia , Trastornos Heredodegenerativos del Sistema Nervioso , Enfermedad de Huntington , Trastornos del Conocimiento , Humanos , Enfermedad de Huntington/complicaciones , Enfermedad de Huntington/genética , Pruebas Neuropsicológicas
7.
Appl Neuropsychol Adult ; 29(6): 1394-1402, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-33583298

RESUMEN

The Hooper Visual Organization Test (HVOT) is used to assess visual organization and visual synthesis. Psychometric studies reveal cultural biases and associations between demographic variables and test performance capable of compromising the test's clinical utility. The present study aimed to adapt the HVOT, explore the psychometric properties of this test, and develop regression-based norms for the Venezuelan population. Using a cross-sectional design, the HVOT was administered to a stratified sample of 351 healthy adults (20-85 years of age and 0-23 years of education) from the Metropolitan Area of Caracas. The results revealed good levels of internal consistency and reliability. Confirmatory Factor Analysis suggests that the HVOT is unidimensional. Item difficulty, types and rate of errors and inappropriateness of some items indicated a potential cultural bias in our Venezuelan sample. Spearman's Correlation and Wilcoxon Rank test analysis (p<.001) showed a significant association between HVOT total score and age, education, and gender, but not with socioeconomic status. We present regression-norms stratified by age, years of education, and gender. Cultural biases were noted, which highlights the need for a revision of items in terms of inclusion, scoring, and order of presentation. Future studies of concurrent and predictive validity are needed.


Asunto(s)
Percepción Visual , Adulto , Estudios Transversales , Humanos , Pruebas Neuropsicológicas , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
8.
Eur Geriatr Med ; 13(1): 147-154, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34817842

RESUMEN

PURPOSE: To assess the associations between TSH and free thyroxine (FT4) levels and decline in functional status in euthyroid older patients at risk of frailty. DESIGN: Longitudinal prospective study. METHODS: Participants from the geriatric outpatient clinic of a university hospital, who fulfilled the criteria for frailty or were at risk of frailty, were recruited. Only those euthyroid, defined by age-specific reference range of TSH, were included. Serum was collected during enrollment and at the third and sixth years of follow-up to assess the mean value of all follow-up levels of serum TSH and FT4. Functional status assessing activities of daily living (ADL) and instrumental ADL were evaluated using the Katz Index and the Health Assessment Questionnaire, respectively. Functional decline was defined by a positive variation in any of the applied scales in the absence of disagreement between the scales or if the patient was institutionalized. RESULTS: Of the 273 participants (72.5% females) enrolled (mean age 80 years old), 48 died and 102 presented functional decline at the end of follow-up (mean 3.6 ± 1.7 years). Each 0.1 ng/dL increase in baseline and mean follow-up serum FT4 levels increased the risk of functional decline by 14.1% and 7.7%, respectively. The risk of functional decline was 9 times greater with baseline FT4 levels in the fourth and fifth quintiles (p = 0.049) and 50% lower with baseline FT4 levels in the first quintile (p = 0.046). No association between TSH and the outcome was found. CONCLUSIONS: Higher and lower FT4 levels were, respectively, a risk and a protective factor for the decline in functional status in a cohort of euthyroid older adults at risk of frailty.


Asunto(s)
Actividades Cotidianas , Tiroxina , Anciano , Anciano de 80 o más Años , Femenino , Estado Funcional , Humanos , Masculino , Pacientes Ambulatorios , Estudios Prospectivos
9.
Clinics (Sao Paulo) ; 76: e2631, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34817044

RESUMEN

OBJECTIVE: In 2020, the COVID-19 pandemic brought a work and stress overload to healthcare workers, increasing their vulnerability to mental health impairments. In response, the authors created the COMVC-19 program. The program offered preventive actions and mental health treatment for the 22,000 workers of The Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP). This paper aims to describe its implementation and share what we have learned from this experience. METHODS: Workers were able to easily access the program through a 24/7 hotline. Additionally, a mobile phone app that screened for signs and symptoms of emotional distress and offered psychoeducation and/or referral to treatment was made available. Data from both these sources as well as any subsequent psychiatric evaluations were collected. RESULTS: The first 20 weeks of our project revealed that most participants were female, and part of the nursing staff working directly with COVID-19 patients. The most frequently reported symptoms were: anxiety, depression and sleep disturbances. The most common diagnoses were Adjustment, Anxiety, and Mood disorders. CONCLUSIONS: Implementing a mental health program in a multimodal intervention was feasible in a major quaternary public hospital. Our data also suggests that preventive actions should primarily be aimed at anxiety and depression symptoms, with a particular focus on the nursing staff.


Asunto(s)
COVID-19 , Ansiedad/epidemiología , Ansiedad/prevención & control , Brasil/epidemiología , Depresión , Femenino , Personal de Salud , Humanos , Salud Mental , Pandemias , SARS-CoV-2
10.
Front Genet ; 12: 639364, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33815474

RESUMEN

Chikungunya virus (CHIKV) is a re-emergent arbovirus that causes a disease characterized primarily by fever, rash and severe persistent polyarthralgia, although <1% of cases develop severe neurological manifestations such as inflammatory demyelinating diseases (IDD) of the central nervous system (CNS) like acute disseminated encephalomyelitis (ADEM) and extensive transverse myelitis. Genetic factors associated with host response and disease severity are still poorly understood. In this study, we performed whole-exome sequencing (WES) to identify HLA alleles, genes and cellular pathways associated with CNS IDD clinical phenotype outcomes following CHIKV infection. The cohort includes 345 patients of which 160 were confirmed for CHIKV. Six cases presented neurological manifestation mimetizing CNS IDD. WES data analysis was performed for 12 patients, including the CNS IDD cases and 6 CHIKV patients without any neurological manifestation. We identified 29 candidate genes harboring rare, pathogenic, or probably pathogenic variants in all exomes analyzed. HLA alleles were also determined and patients who developed CNS IDD shared a common signature with diseases such as Multiple sclerosis (MS) and Neuromyelitis Optica Spectrum Disorders (NMOSD). When these genes were included in Gene Ontology analyses, pathways associated with CNS IDD syndromes were retrieved, suggesting that CHIKV-induced CNS outcomesmay share a genetic background with other neurological disorders. To our knowledge, this study was the first genome-wide investigation of genetic risk factors for CNS phenotypes in CHIKV infection. Our data suggest that HLA-DRB1 alleles associated with demyelinating diseases may also confer risk of CNS IDD outcomes in patients with CHIKV infection.

11.
Clinics ; 76: e2631, 2021. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1350604

RESUMEN

OBJECTIVE: In 2020, the COVID-19 pandemic brought a work and stress overload to healthcare workers, increasing their vulnerability to mental health impairments. In response, the authors created the COMVC-19 program. The program offered preventive actions and mental health treatment for the 22,000 workers of The Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP). This paper aims to describe its implementation and share what we have learned from this experience. METHODS: Workers were able to easily access the program through a 24/7 hotline. Additionally, a mobile phone app that screened for signs and symptoms of emotional distress and offered psychoeducation and/or referral to treatment was made available. Data from both these sources as well as any subsequent psychiatric evaluations were collected. RESULTS: The first 20 weeks of our project revealed that most participants were female, and part of the nursing staff working directly with COVID-19 patients. The most frequently reported symptoms were: anxiety, depression and sleep disturbances. The most common diagnoses were Adjustment, Anxiety, and Mood disorders. CONCLUSIONS: Implementing a mental health program in a multimodal intervention was feasible in a major quaternary public hospital. Our data also suggests that preventive actions should primarily be aimed at anxiety and depression symptoms, with a particular focus on the nursing staff.


Asunto(s)
Humanos , Femenino , COVID-19 , Ansiedad/prevención & control , Ansiedad/epidemiología , Brasil/epidemiología , Salud Mental , Personal de Salud , Depresión , Pandemias , SARS-CoV-2
12.
J Huntingtons Dis ; 9(4): 325-334, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33044188

RESUMEN

BACKGROUND: Huntington Disease-Like 2 (HDL2) is a rare autosomal dominant disorder caused by an abnormal CAG/CTG triplet repeat expansion on chromosome 16q24. The symptoms of progressive decline in motor, cognitive and psychiatric functioning are similar to those of Huntington's disease (HD). The psychiatric features of the HDL2 have been poorly characterized. OBJECTIVE: To describe the neuropsychiatric features of HDL2 and compare them with those of HD. METHODS: A blinded cross-sectional design was used to compare the behavioural component of the Unified Huntington's Disease Rating Scale (UHDRS) in participants with HDL2 (n = 15) and HD (n = 13) with African ancestry. RESULTS: HDL2 patients presented with psychiatric symptoms involving mood disturbances and behavioural changes that were not significantly different from those in the HD group. Duration of disease and motor performance correlated (p < 0.001) with the Functional Capacity score and the Independence score of the UHDRS. HD patients reported movement dysfunction as the first symptom more frequently than HDL2 Patients (p < 0.001). CONCLUSION: The psychiatric phenotype of HDL2 is similar to that of HD and linked to motor decline and disease duration. Psychiatric symptoms seem more severe for HDL2 patients in the early stages of the disease.


Asunto(s)
Agresión/psicología , Apatía , Corea/psicología , Trastornos del Conocimiento/psicología , Demencia/psicología , Depresión/psicología , Trastornos Heredodegenerativos del Sistema Nervioso/psicología , Enfermedad de Huntington/psicología , Genio Irritable , Adulto , Anciano , Población Negra , Corea/fisiopatología , Trastornos del Conocimiento/fisiopatología , Demencia/fisiopatología , Femenino , Estado Funcional , Trastornos Heredodegenerativos del Sistema Nervioso/fisiopatología , Humanos , Enfermedad de Huntington/fisiopatología , Masculino , Persona de Mediana Edad , Trastornos del Sueño-Vigilia/fisiopatología
13.
Rev. bras. cir. plást ; 35(3): 304-308, jul.-sep. 2020. ilus
Artículo en Inglés, Portugués | LILACS-Express | LILACS | ID: biblio-1128044

RESUMEN

Introdução: A busca pela aprendizagem de técnicas cirúrgicas dentro da sala de operação está vinculada a dificuldades, como a redução do tempo de ensino pelos cirurgiões e problemas éticos. Já foram elaborados modelos para facilitar a prática de técnicas cirúrgicas, contudo de custo elevado, difícil acesso e com complicações éticas e morais. O presente trabalho tem como objetivo apresentar um modelo sintético, inédito e prático para o treinamento das técnicas de retalho cutâneo, formulado para ser de fácil reprodução e de baixo custo, permitindo sua exequibilidade. Métodos: No modelo foi utilizado malha, esponja para lavagem de carro, elástico de látex, pincel de ponta fina, bisturi e instrumentos cirúrgicos de sutura. A malha é fixada pelo elástico sobre a superfície da esponja, simulando pele e subcutâneo. Desenha-se, então, o retalho a ser feito na superfície do tecido. Resultados: O modelo criado mostrou-se satisfatório, visto que aprimora o manuseio de instrumentos cirúrgicos e o aprendizado da técnica de retalho proposta, além de ter demonstrado boa elasticidade e resistência a tração. Nas faculdades de medicina percebe-se uma carência na abordagem de temas importantes da cirurgia plástica. Ressalta-se a importância de modelos de baixo custo e de fácil execução, como o supracitado, para facilitar a aprendizagem de estudantes interessados no assunto, buscando cumprir a função educacional sem romper princípios éticos. Conclusão: O modelo proposto é uma excelente forma de treinamento por apresentar benefícios logísticos e instrutivos, facilitando a aprendizagem, sem causar prejuízo aos animais.


Introduction: The search for learning surgical techniques within the operating room is linked to difficulties, such as reducing teaching time by surgeons and ethical problems. Models have already been developed to facilitate the practice of surgical techniques, however, with high cost, difficult access, and ethical and moral complications. The present work aims to present a synthetic model, unpublished and practical for the training of skin flap techniques, formulated to be easy to reproduce and low cost, allowing its feasibility. Methods: In the model, fabric, sponge for car washing, latex elastic, fine-tipped brush, scalpel, and surgical suture instruments were used. The fabric is fixed by the elastic on the surface of the sponge, simulating skin and subcutaneous. The flap to be made on the surface of the fabric is then drawn. Results: The model created was satisfactory, since it improves the handling of surgical instruments and the learning of the proposed flap technique, besides having demonstrated good elasticity and tensile strength. In medical schools, there is a lack of approach to essential topics in plastic surgery. The importance of low-cost and easy-to-execute models, such as the above, is emphasized to facilitate the learning of students interested in the subject, seeking to fulfill the educational function without breaking ethical principles. Conclusion: The proposed model is an excellent form of training because it presents logistical and instructive benefits, facilitating learning, without causing harm to animals.

14.
MethodsX ; 7: 100782, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32021824

RESUMEN

The Single-Case Methodology in Neuropsychology (Crawford & Howell, 1998) is a research design and robust inferential statistical method that facilitates the neuropsychological description of one case in terms of the differences between its profile and the performance of a carefully matched sample (Crawford & Garthwaite, 2012). The comparison is made by means of a t-test statistic that treats the normative sample as a sample and not as a population, with a particular effect-size associated with the size (n) of the sample. It is an ideal method for the neuropsychological investigation of rare diseases, such as Huntington's Disease Like-2 (HDL2), especially when the cases are embedded in contexts of great diversity. This paper presents a step by step guide to the implementation of this method in a series of demographically and clinically diverse group of patients. •The application of a Single-Case Methodology in Neuropsychology enables the characterisation of rare diseases while controlling for demographic and context-related variables.•The implementation Single-Case Methodology in Neuropsychology provides test norms for homogenous groups that can be used by practitioners in their clinical work.•The method was customised for the South African population by controlling variables of specific relevance, such as linguistic diversity and quality of education.

15.
Neuropsychologia ; 136: 107238, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31704316

RESUMEN

OBJECTIVES: Huntington's Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. The Huntington's Disease (HD) phenocopy has the greatest clinical resemblance to HD, but its neurocognitive characterisation is poorly researched. This study reports on the neurocognitive profile of seven HDL2 patients including preserved functions, deficits and dissociations (classical and strong) and provides a general characterisation of the cognitive dysfunction of HDL2 in relation to the progression of the disease. METHODS: The neuropsychological performance of seven HDL2 patients were compared to one of four control groups, matched by age and level of education using a Single Case-Control design. All patients were polyglots and with public education (primary and secondary). Deficits, as well as classical and strong dissociations within each case profile, were identified by implementing Crawford and Howell's (1998) t-test and the Revised Standardized Difference Test (Crawford and Garthwaite, 2005), respectively. RESULTS: The HDL2 neurocognitive syndrome is heterogeneous with a variable rate of progression, with the psychomotor and dexterity domain consistently and severely impaired. CONCLUSION: HDL2 has a heterogeneous impact on cognitive functions from early stages in the disease, which evolve to dementia in a non-uniform manner, in keeping with preferential damage in the cerebrocortical-basal ganglia-thalamus-cerebrocortical circuit.


Asunto(s)
Corea/fisiopatología , Trastornos del Conocimiento/fisiopatología , Demencia/fisiopatología , Progresión de la Enfermedad , Trastornos Heredodegenerativos del Sistema Nervioso/fisiopatología , Pruebas Neuropsicológicas , Desempeño Psicomotor/fisiología , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos de Investigación
16.
Mov Disord Clin Pract ; 6(4): 302-311, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31061838

RESUMEN

BACKGROUND: Huntington's disease like 2 (HDL2) is the most common Huntington's disease (HD) phenocopy in many countries and described as the phenocopy with the greatest resemblance to HD. The current clinical description of HDL2 is based on retrospective data. It is unknown whether HDL2 has clinical features that distinguish it from HD. OBJECTIVE: To describe the HDL2 phenotype and compare it to HD systematically. METHODS: A blinded cross-sectional design was used to compare the HDL2 (n = 15) and HD (n = 13) phenotypes. African ancestry participants underwent assessments, including the Unified Huntington's Disease Rating Scale (UHDRS). The UHDRS motor component was video recorded and evaluated by blinded experts and the inter-rater reliability calculated. RESULTS: Both groups were homogeneous in terms of demographics and disease characteristics. However, HDL2 patients presented three years earlier with more prominent dysarthria and dystonia. Raters could not distinguish between the two diseases with a high level of agreement. No significant differences in the TMS between HDL2 and HD were found. In both disorders, disease duration correlated with motor scores, with the exception of chorea. Psychiatric and cognitive scores were not significantly different between the groups. CONCLUSIONS: The HDL2 phenotype is similar to HD and is initially characterized by dementia, chorea, and oculomotor abnormalities, progressing to a rigid and bradykinetic state, suggesting the UHDRS is useful to monitor disease progression in HDL2. Although HDL2 patients scored higher on some UHDRS domains, this did not differentiate between the two diseases; it may however be emerging evidence of HDL2 having a more severe clinical phenotype.

17.
Neuroimage Clin ; 21: 101666, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30682531

RESUMEN

Huntington's Disease-Like 2 (HDL2), caused by a CTG/CAG expansion in JPH3 on chromosome 16q24, is the most common Huntington's Disease (HD) phenocopy in populations with African ancestry. Qualitatively, brain MRIs of HDL2 patients have been indistinguishable from HD. To determine brain regions most affected in HDL2 a cross-sectional study using MRI brain volumetry was undertaken to compare the brains of nine HDL2, 11 HD and nine age matched control participants. Participants were ascertained from the region in South Africa with the world's highest HDL2 incidence. The HDL2 and HD patient groups showed no significant differences with respect to mean age at MRI, disease duration, abnormal triplet repeat length, or age at disease onset. Overall, intracerebral volumes were smaller in both affected groups compared to the control group. Comparing the HDL2 and HD groups across multiple covariates, cortical and subcortical volumes were similar with the exception that the HDL2 thalamic volumes were smaller. Consistent with other similarities between the two diseases, these results indicate a pattern of neurodegeneration in HDL2 that is remarkably similar to HD. However smaller thalamic volumes in HDL2 raises intriguing questions into the pathogenesis of both disorders, and how these volumetric differences relate to their respective phenotypes.


Asunto(s)
Encéfalo/patología , Corea/patología , Trastornos del Conocimiento/patología , Demencia/patología , Trastornos Heredodegenerativos del Sistema Nervioso/patología , Enfermedad de Huntington/patología , Imagen por Resonancia Magnética , Adulto , Anciano , Tronco Encefálico/patología , Estudios Transversales , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Expansión de Repetición de Trinucleótido/fisiología
18.
S Afr J Psychiatr ; 24: 1163, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30263222

RESUMEN

BACKGROUND: Working memory (WM) deficits have a negative impact on treatment adherence and quality of life. Efficient and effective interventions are needed in order to improve the cognitive functioning of those affected, especially in low-resource communities. Computer-based rehabilitation programmes (CBRP) are low-cost therapeutic approaches for WM deficits. Perceptions and experiences of target users may influence whether CBRP constitute an effective therapeutic option for adults with cognitive impairment in under-resourced environments. AIM: The goal of the study was to explore the experiences of a group of volunteers with WM deficits (associated with diagnoses of HIV and schizophrenia), in terms of the perceived barriers they encountered during their participation in a CBRP. METHODS: A qualitative, descriptive research design was implemented. Short interviews and field notes were used in order to investigate the experiences of nine participants in relation to the CBRP. The sample included four participants living with HIV and five with schizophrenia, all with WM deficits. RESULTS: Using a thematic analysis, eight barriers were identified: unawareness of the cognitive deficit, anticipation of negative results, stigma, difficulties accessing a computer and/or Internet connection, ill health, negative emotional experiences, daily routine challenges and non-conducive or sabotaging environments. A representational model of these barriers is proposed. CONCLUSION: The implementation of a cognitive rehabilitation strategy should not only take into consideration issues of access to particular strategies and materials but should also be preceded by an exploration of how individual and contextual barriers are experienced by the potential users, as these contribute to the risk of dropout.

19.
Rev. Salusvita (Online) ; 37(4): 891-902, 2018.
Artículo en Portugués | LILACS | ID: biblio-1050836

RESUMEN

Introdução: na população idosa a prática de exercícios leva a muitos benefícios na aptidão física e capacidade funcional, além da redução de determinadas condições clínicas que os colocam em condições de fragilidade, sobretudo da pressão arterial e dos fatores de risco para doenças cardiovasculares. Objetivo: verificar o nível de atividade física dos idosos atendidos por uma Estratégia de Saúde da Família em Teixeira de Freitas-BA. Métodos: trata-se de um estudo descritivo aprovado pelo Comitê de Ética em Pesquisa da Universidade Estadual de Feira de Santana sob parecer de nº 1.742.967. A amostra foi constituída por 21 idosos residentes na área urbana de Teixeira de Freitas, que frequentam a Unidade Básica de Saúde Wilson Brito que, após anuência, foram entrevistados através de questionários de aspectos socioeconômicos e demográficos, além do International Physical Activity Questionnaire (IPAQ), versão longa específica para idosos, no qual foram avaliados quanto ao nível de atividade física habitual. Resultados: todas as informações coletadas no estudo foram tabuladas em banco de dados distribuído em planilhas eletrônicas do EXCEL e analisadas pelo software STATA. Observou-se que os participantes tinham idade média de 65,48 ±5,29 anos. Quanto ao nível de atividade física, através da análise pelo IPAQ, apenas 08 pessoas possuem nível de atividade física suficiente, constatando-se valores acima de 150 minutos na semana, indicando que a maioria dessa população pode estar suscetível a doenças. Conclusão: a maioria da amostra não possui prática regular de atividade física. Assim, torna-se necessária a implementação de programas que promovam a atividade física nesse grupo.


Introduction: in the elderly population the practice of exercise leads to many benefits in physical fitness and functional capacity, besides the reduction of certain clinical conditions that put them in conditions of fragility, especially high blood pressure and other risk factors for cardiovascular diseases. Objective: verify the level of physical activity of the elderly attended by a Family Health Strategy in Teixeira de Freitas-BA. Methods: this is a descriptive study approved by the Research Ethics Committee of Feira de Santana State University under opinion Nº 1,742,967. The sample consisted of 21 elderly people living in the urban area of Teixeira de Freitas, who attend the Wilson Brito Basic Health Unit, who were interviewed through questionnaires of socioeconomic and demographic aspects, as well as the International Physical Activity Questionnaire (IPAQ), a long version specific to the elderly, in which they were evaluated for the level of habitual physical activity. Results: all the information collected in the study was tabulated in a database distributed in EXCEL spreadsheets and analyzed by the STATA software. It was observed that the participants had a mean age of 65.48 ± 5.29 years. Regarding the level of physical activity, through analysis by the IPAQ, only 08 people have sufficient physical activity level, with values above 150 minutes in the week, indicating that the majority of this population may be susceptible to diseases. Conclusion: most of the sample does not practice regular physical activity. Thus, it is necessary to implement programs that promote physical activity in this group.


Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Servicios de Salud para Ancianos
20.
S. Afr. j. psychiatry (Online) ; 24: 1-8, 2018. ilus
Artículo en Inglés | AIM (África) | ID: biblio-1270856

RESUMEN

Background: Working memory (WM) deficits have a negative impact on treatment adherence and quality of life. Efficient and effective interventions are needed in order to improve the cognitive functioning of those affected, especially in low-resource communities. Computer-based rehabilitation programmes (CBRP) are low-cost therapeutic approaches for WM deficits. Perceptions and experiences of target users may influence whether CBRP constitute an effective therapeutic option for adults with cognitive impairment in under-resourced environments. Aim: The goal of the study was to explore the experiences of a group of volunteers with WM deficits (associated with diagnoses of HIV and schizophrenia), in terms of the perceived barriers they encountered during their participation in a CBRP. Methods: A qualitative, descriptive research design was implemented. Short interviews and field notes were used in order to investigate the experiences of nine participants in relation to the CBRP. The sample included four participants living with HIV and five with schizophrenia, all with WM deficits. Results: Using a thematic analysis, eight barriers were identified: unawareness of the cognitive deficit, anticipation of negative results, stigma, difficulties accessing a computer and/or Internet connection, ill health, negative emotional experiences, daily routine challenges and non-conducive or sabotaging environments. A representational model of these barriers is proposed. Conclusion: The implementation of a cognitive rehabilitation strategy should not only take into consideration issues of access to particular strategies and materials but should also be preceded by an exploration of how individual and contextual barriers are experienced by the potential users, as these contribute to the risk of dropout


Asunto(s)
Trastornos de la Memoria , Calidad de Vida , Sudáfrica , Cumplimiento y Adherencia al Tratamiento
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