Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 329
Filtrar
1.
J Alzheimers Dis ; 101(s1): S395-S416, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39422938

RESUMO

Stem cell therapies are progressively redefining the treatment landscape for a spectrum of neurological and age-related disorders. This review discusses the molecular and functional attributes of stem cells, emphasizing the roles of neural stem cells and mesenchymal stem cells in the context of neurological diseases such as stroke, multiple sclerosis, amyotrophic lateral sclerosis, traumatic brain injury, Parkinson's disease, and Alzheimer's disease. The review also explores the potential of stem cells in addressing the aging process. The paper analyzes stem cells' intrinsic properties of self-renewal, differentiation, and paracrine effects, alongside the importance of laboratory-modified stem cells like induced pluripotent stem cells and transgenic stem cells. Insights into disease-specific stem cell treatments are offered, reviewing both successes and challenges in the field. This includes the translational difficulties from rodent studies to human trials. The review concludes by acknowledging the uncharted territories that warrant further investigation, emphasizing the potential roles of stem cell-derived exosomes and indole-related molecules, and aiming at providing a basic understanding of stem cell therapies.


Assuntos
Transplante de Células-Tronco , Humanos , Animais , Transplante de Células-Tronco/métodos , Transplante de Células-Tronco/tendências , Doenças do Sistema Nervoso/terapia , Neurologia/tendências , Neurologia/métodos , Pesquisa Translacional Biomédica/tendências , Células-Tronco Neurais/transplante
2.
Indian J Ophthalmol ; 72(11): 1544-1559, 2024 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-39462921

RESUMO

This review article represents a collaborative effort across continents, bringing together the latest developments in neuro-ophthalmology with a focus on innovative diagnostic and therapeutic modalities that are shaping the future of the field. Among the most significant advancements is the rise of optical coherence tomography (OCT), now recognized as an indispensable tool in neuro-ophthalmological research, providing unparalleled insights into optic nerve and central nervous system pathologies. Gene therapy, particularly for conditions such as Leber's hereditary optic neuropathy, marks a new frontier in personalized medicine, offering hope for previously untreatable conditions. The article also examines the transformative role of telemedicine and artificial intelligence (AI) in clinical practice, which are revolutionizing patient care and enhancing diagnostic precision. Furthermore, it highlights the impact of novel serological biomarkers on the understanding and management of immune-mediated optic neuritis, and discusses the introduction of new therapeutic agents like Tocilizumab and Teprotumumab, which are redefining treatment paradigms. Collectively, these advancements reflect the profound influence of modern medicine on neuro-ophthalmology, paving the way for improved patient outcomes and fostering new avenues for research and clinical practice.


Assuntos
Neurologia , Oftalmologia , Tomografia de Coerência Óptica , Humanos , Oftalmologia/métodos , Neurologia/métodos , Tomografia de Coerência Óptica/métodos , Telemedicina
3.
Handb Clin Neurol ; 205: 297-315, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39341660

RESUMO

The majority of primary brain tumors are gliomas, among which glioblastoma multiforme (GBM) is the most common malignant brain tumor in adults. GBM has a median survival of 18-24 months, and despite extensive research it remains incurable, thus novel therapies are urgently needed. The current standard of care is a combination of surgery, radiation, and chemotherapy, but still remains ineffective due to the invasive nature and high recurrence of gliomas. Gene therapy is a versatile treatment strategy investigated for multiple tumor types including GBM. In gene therapy, a variety of vectors are employed to deliver genes designed for different antitumoral effects. Also, over the past decades, stem cell biology has provided a new approach to cancer therapies. Stem cells can be used as regenerative medicine, therapeutic carriers, drug targeting, and generation of immune cells. Stem cell-based therapy allows targeted therapy that spares healthy brain tissue as well as establishes a long-term antitumor response by stimulating the immune system and delivering prodrug, metabolizing genes, or even oncolytic viruses. This chapter describes the latest developments and the current trends in gene and cell-based therapy against GBM from both preclinical and clinical perspectives, including different gene therapy delivery systems, molecular targets, and stem cell therapies.


Assuntos
Neoplasias Encefálicas , Terapia Genética , Humanos , Terapia Genética/métodos , Neoplasias Encefálicas/terapia , Neoplasias Encefálicas/genética , Animais , Terapia Baseada em Transplante de Células e Tecidos/métodos , Glioblastoma/terapia , Glioblastoma/genética , Neurologia/métodos , Neurologia/tendências
4.
Eur J Neurol ; 31(10): e16401, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39152571

RESUMO

BACKGROUND AND PURPOSE: Management of idiopathic intracranial hypertension (IIH) is complex requiring multiple specialized disciplines. In practice, this creates considerable organizational and communicational challenges for healthcare professionals and patients. Thus, an interdisciplinary integrated outpatient clinic for IIH (comprising neurology, neuroophthalmology, neuroradiology, neurosurgery and endocrinology) was established with central coordination and a one-stop concept. Here, the aim was to evaluate the effects of this one-stop concept on objective clinical outcome. METHODS: In a retrospective cohort study, the one-stop era with integrated care (IC) (1 July 2021 to 31 December 2022) was compared to a reference group receiving standard care (SC) (1 July 2018 to 31 December 2019) regarding visual impairment/worsening and headache improvement/freedom 6 months after diagnosis. Multivariate binary logistic regression models were used to adjust for confounders. RESULTS: Baseline characteristics of the IC group (n = 85) and SC group (n = 81) were comparable (female 90.6% vs. 90.1%; mean age 33.6 vs. 32.8 years; median body mass index 31.8 vs. 33.0; median cerebrospinal fluid opening pressure 32 vs. 34 cmH2O; at diagnosis, visual impairment was present in 71.8% vs. 69.1% and chronic headache in 55.3% vs. 56.8% in IC vs. SC). IC was associated with a higher likelihood of achieving both headache improvement (odds ratio [OR] 2.24, 95% confidence interval [CI] 1.52-4.33, p < 0.001) and headache freedom (OR 1.75, 95% CI 1.11-3.09, p = 0.031). Regarding the risk of visual impairment and visual worsening IC was superior numerically but not statistically significantly (OR 0.87, 95% CI 0.69-1.16, p = 0.231, and OR 0.67, 95% CI 0.41-1.25, p = 0.354). CONCLUSIONS: Interdisciplinary integrated care of IIH is favourably associated with headache outcomes and potentially also visual outcomes.


Assuntos
Instituições de Assistência Ambulatorial , Pseudotumor Cerebral , Humanos , Pseudotumor Cerebral/terapia , Feminino , Masculino , Adulto , Estudos Retrospectivos , Equipe de Assistência ao Paciente , Prestação Integrada de Cuidados de Saúde , Resultado do Tratamento , Pessoa de Meia-Idade , Estudos de Coortes , Transtornos da Visão/terapia , Neurologia/métodos , Adulto Jovem
5.
Indian J Ophthalmol ; 72(Suppl 3): S505-S508, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38648459

RESUMO

PURPOSE: The Pelli-Robson and LEA contrast sensitivity charts are commonly used in clinical settings to measure contrast sensitivity. Although the Pelli-Robson chart is considered the gold standard, it is limited by its bulky size. The LEA chart, on the contrary, offers a more practical and portable option that is still reliable. This has led to questions about whether we can predict Pelli-Robson scores based on LEA scores. This study developed a conversion method to help transition from the LEA chart to the Pelli-Robson chart and validate the conversion score. METHODS: In this retrospective study, we analyzed the relationship between LEA and the Pelli-Robson contrast sensitivity test. Our study examined a total of 120 eyes. We developed a conversion table through the equipercentile equating method. Subsequently, we assessed the reliability and accuracy of this algorithm for converting LEA results into Pelli-Robson contrast sensitivity scores. RESULTS: The study used a conversion table to convert LEA scores to Pelli-Robson scores. The conversion table achieved a reliability of 0.91 based on intraclass correlation, and the algorithm had an accuracy of 81.6% within a 1-point difference from the raw score. CONCLUSIONS: This study reported a reliable and comparable conversion algorithm for transforming LEA scores into converted estimated Pelli-Robson scores, thereby improving the usefulness of existing data in both clinical and research contexts.


Assuntos
Sensibilidades de Contraste , Humanos , Sensibilidades de Contraste/fisiologia , Estudos Retrospectivos , Masculino , Feminino , Adulto , Reprodutibilidade dos Testes , Pessoa de Meia-Idade , Testes Visuais/métodos , Testes Visuais/instrumentação , Oftalmologia/métodos , Adulto Jovem , Acuidade Visual/fisiologia , Neurologia/métodos , Algoritmos , Idoso , Adolescente
6.
Continuum (Minneap Minn) ; 29(6): 1680-1709, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-38085894

RESUMO

OBJECTIVE: This article reviews the most common pediatric brain tumors, neurocutaneous syndromes, treatment-related neurotoxicities, and the long-term outcomes of survivors. LATEST DEVELOPMENTS: In the era of molecular diagnostics, the classification, management, and prognostication of pediatric brain tumors and neurocutaneous syndromes has been refined, resulting in advancements in patient management. Molecular diagnostics have been incorporated into the most recent World Health Organization 2021 classification. This knowledge has allowed for novel therapeutic approaches targeting the biology of these tumors with the intent to improve overall survival, decrease treatment-related morbidity, and improve quality of life. Advances in management have led to better survival, but mortality remains high and significant morbidity persists. Current clinical trials focus on tumor biology targeted therapy, deescalation of therapy, and multimodal intensified approaches with targeted therapy in more high-risk tumors. ESSENTIAL POINTS: Molecular diagnostics for pediatric brain tumors and neurocutaneous syndromes have led to novel therapeutic approaches targeting the biology of these tumors with the goals of improving overall survival and decreasing treatment-related morbidity. Further understanding will lead to continued refinement and improvement of tumor classification, management, and prognostication.


Assuntos
Neoplasias Encefálicas , Síndromes Neurocutâneas , Neurologia , Criança , Humanos , Qualidade de Vida , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Neurologia/métodos , Sobreviventes
7.
Rev. colomb. med. fis. rehabil. (En línea) ; 33(1): 26-40, 2023. graf, tab
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1451163

RESUMO

Introducción. El desarrollo del ser humano está determinado por factores biológicos, ambientales y contextuales que determinan la adquisición de habilidades neurológicas, y que bajo situaciones patológicas aumentan el riesgo de alteraciones en el neurodesarrollo desde etapas tempranas. Objetivo. Diseñar un protocolo con validez ecológica para la detección temprana de riesgo neurológico en la primera infancia por parte de equipos interdisciplinarios de rehabilitación. Métodos. Se realizó un estudio mixto, retrospectivo, transversal y descriptivo con un diseño exploratorio secuencial (DESPLOX). En la fase cualitativa se conformaron dos grupos focales: uno con padres (n=8) y otro con profesionales (n=6), de los cuales se obtuvieron las categorías del protocolo. En la fase cuantitativa se revisaron sistemáticamente artículos científicos (n=30) para la construcción de las orientaciones de acción. Finalmente, el protocolo se validó mediante un panel de expertos empleando el coeficiente de V de Aiken. Resultados. En la fase cualitativa emergieron cuatro categorías: 1) detección temprana, 2) contextos del desarrollo, 3) plan de intervención y 4) calidad y humanización en la atención. En la fase cuantitativa se seleccionaron las orientaciones de acción ubicadas en los Q2 y Q3. Posteriormente se evidenció una validación del protocolo igual a X ̅ =0,98. Conclusiones. Un protocolo de neurorrehabilitación válido ecológicamente se caracteriza por reconocer las percepciones, vivencias y experiencias de familiares y profesionales; recoger evidencia científica confiable; aportar orientaciones y recomendaciones sistémicas para la atención de niñas y niños, y contener criterios de validación de contenido.


Introduction. The human being's development is determined by biological, environmental, and contextual factors that determine the acquisition of neurological skills and that, under pathological situations, increase the risk of alterations in neurodevelopment from early stages. Objective. Design a protocol with ecological validity for the early detection of neurological risk in early childhood by interdisciplinary rehabilitation teams. Methods. A mixed, retrospective, cross-sectional, and descriptive study was performed with Exploratory Sequential Designs (DEXPLOS). In the qualitative phase, two focus groups were formed: one with parents (n=8) and another with professionals (n=6), from which the protocol categories were obtained. In the quantitative phase, scientific articles (n=30) were systematically reviewed to construct the action guidelines. Finally, the protocol was validated by a panel of experts using Aiken's V coefficient. Results. In the qualitative phase, four categories emerged: 1) early detection, 2) development contexts, 3) intervention plan, and 4) quality and humanization of care. In the quantitative phase, the action orientations located in Q2 and Q2 were selected. Subsequently, a validation of the protocol equal to X ̅=0.98 was evidenced. Conclusions. An ecologically valid neuro-rehabilitation protocol is characterized by recognizing the perceptions, expe-riences, and experiences of relatives and professionals; collecting reliable scientific evidence; providing systemic guide-lines and recommendations for the care of girls and boys, and containing content validation criteria.


Assuntos
Humanos , Masculino , Feminino , Criança , Medicina Física e Reabilitação , Neurologia/métodos , Manifestações Neurológicas
8.
J Child Neurol ; 36(12): 1120-1127, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34677110

RESUMO

Many childhood neurologic conditions are first diagnosed in the perinatal period and shorten or seriously alter the lives of affected infants. Neonatal neuropalliative care incorporates core practices and teachings of both neurology and palliative care and is directed toward patients and families affected by serious neurologic conditions in the antenatal and immediate newborn period. This review outlines key considerations for neurologists hoping to provide a neuropalliative care approach antenatally, in the neonatal intensive care unit, and around hospital discharge. We explore 4 core domains of neuropalliative care: (1) family-centered communication, (2) prognostication, (3) decision making, and (4) pain and symptom management. We address special considerations in care at the end of life and in varied cultural and practice contexts.


Assuntos
Doenças do Sistema Nervoso/terapia , Neurologia/métodos , Cuidados Paliativos/métodos , Pediatria/métodos , Assistência Terminal/métodos , Humanos , Recém-Nascido
9.
J Clin Neurosci ; 90: 206-211, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34275550

RESUMO

Radiomics seeks to apply classical methods of image processing to obtain quantitative parameters from imaging. Derived features are subsequently fed into algorithmic models to aid clinical decision making. The application of radiomics and machine learning techniques to clinical medicine remains in its infancy. The great potential of radiomics lies in its objective, granular approach to investigating clinical imaging. In neuro-oncology, advanced machine learning techniques, particularly deep learning, are at the forefront of new discoveries in the field. However, despite the great promise of machine learning aided radiomic approaches, the current use remains confined to scholarly research, without real-world deployment in neuro-oncology. The paucity of data, inconsistencies in preprocessing, radiomic feature instability, and the rarity of the events of interest are critical barriers to clinical translation. In this article, we will outline the major steps in the process of radiomics, as well as review advances and challenges in the field as they pertain to neuro-oncology.


Assuntos
Diagnóstico por Imagem/métodos , Processamento de Imagem Assistida por Computador/métodos , Aprendizado de Máquina , Oncologia/métodos , Neurologia/métodos , Humanos
10.
World Neurosurg ; 151: 386-391, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34243672

RESUMO

Although outcomes for many brain tumors, especially glioblastomas, remain poor, there have been significant advances in clinical and scientific understanding of neuro-oncologic disease. Tumor molecular profiling has become a critical component of clinical practice, allowing more accurate pathologic diagnosis and enhanced clarity of the pathogenesis of both primary and metastatic brain tumors. The development of cerebral organoids carries exciting potential to provide representative models of tumor growth and potential drug efficacy, while new radiology techniques continue to improve clinical decision making. New adaptive trial platforms have been developed to rapidly test therapies and biomarkers with good scientific rationale. Lastly, growth and development of neuro-oncology clinical care teams aim to further improve patients' outcomes and symptoms, especially at the end of life.


Assuntos
Neoplasias Encefálicas , Oncologia/tendências , Biologia Molecular/tendências , Neurologia/tendências , Animais , Humanos , Oncologia/métodos , Biologia Molecular/métodos , Neurologia/métodos
12.
World Neurosurg ; 151: 402-410, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33610863

RESUMO

Both primary and metastatic brain tumors carry poor prognoses despite modern advances in medical therapy, radiation therapy, and surgical techniques. Gliomas, including glioblastoma (GBM), are particularly difficult to treat, and high-grade gliomas have poor outcomes. Treatment of brain tumors involves a unique set of scientific and clinical challenges, which are often not present in the treatment of systemic malignancies. With respect to scientific challenges, the anatomy and physiology of brain tumors (including the blood-brain barrier, blood-tumor barrier, and blood-cerebrospinal fluid barrier) prevent adequate drug delivery into the central nervous system. The unique nature of the immune system in the central nervous system as well as the immunosuppressive microenvironment of tumors such as GBM also create therapeutic roadblocks in the treatment of brain tumors. Tumor heterogeneity, particularly in GBM, has classically been believed to contribute to multitherapy resistance; however, recent data suggest that this may not be the case. Clinical challenges include neurologic and medical comorbidities of patients with brain tumor, as well as potential toxicity of tumor-directed treatment. Clinical trials investigating new treatment paradigms are needed, but several roadblocks exist to good and promising clinical trial availability.


Assuntos
Neoplasias Encefálicas/terapia , Oncologia/métodos , Neurologia/métodos , Humanos
13.
J Med Chem ; 64(3): 1223-1259, 2021 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-33499603

RESUMO

The positron emission tomography (PET) molecular imaging technique has gained its universal value as a remarkable tool for medical diagnosis and biomedical research. Carbon-11 is one of the promising radiotracers that can report target-specific information related to its pharmacology and physiology to understand the disease status. Currently, many of the available carbon-11 (t1/2 = 20.4 min) PET radiotracers are heterocyclic derivatives that have been synthesized using carbon-11 inserted different functional groups obtained from primary and secondary carbon-11 precursors. A spectrum of carbon-11 PET radiotracers has been developed against many of the upregulated and emerging targets for the diagnosis, prognosis, prediction, and therapy in the fields of oncology, cardiology, and neurology. This review focuses on the carbon-11 radiochemistry and various target-specific PET molecular imaging agents used in tumor, heart, brain, and neuroinflammatory disease imaging along with its associated pathology.


Assuntos
Radioisótopos de Carbono/química , Cardiologia/métodos , Coração/diagnóstico por imagem , Imagem Molecular/métodos , Neoplasias/diagnóstico por imagem , Sistema Nervoso/diagnóstico por imagem , Neurologia/métodos , Tomografia por Emissão de Pósitrons/métodos , Radioterapia (Especialidade)/métodos , Compostos Radiofarmacêuticos/química , Animais , Humanos
15.
J Child Neurol ; 36(1): 5-29, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32807014

RESUMO

Central nervous system tumors are extremely rare in the pediatric population and molecularly heterogeneous. Growing scientific research and clinical practice experience are improving medical therapies to increase survival outcomes and quality of life and reduce side effects. The 2019 Neurobiology of Disease in Children Symposium, held in conjunction with the 48th annual meeting of the Child Neurology Society, aimed to (1) describe molecular advances in tumor classification, (2) better understand the evolution of targeted therapies, and (3) more clearly formulate a treatment plan for patients. The article summarizes the presentations and includes an edited transcript of a panel discussion.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Neuroimagem/métodos , Neoplasias Encefálicas/patologia , Criança , Humanos , Neurologia/métodos
16.
Can Assoc Radiol J ; 72(1): 35-44, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32946272

RESUMO

There have been many recently published studies exploring machine learning (ML) and deep learning applications within neuroradiology. The improvement in performance of these techniques has resulted in an ever-increasing number of commercially available tools for the neuroradiologist. In this narrative review, recent publications exploring ML in neuroradiology are assessed with a focus on several key clinical domains. In particular, major advances are reviewed in the context of: (1) intracranial hemorrhage detection, (2) stroke imaging, (3) intracranial aneurysm screening, (4) multiple sclerosis imaging, (5) neuro-oncology, (6) head and tumor imaging, and (7) spine imaging.


Assuntos
Inteligência Artificial , Interpretação de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Neurologia/métodos , Tomografia Computadorizada por Raios X/métodos , Aprendizado Profundo , Humanos , Neurorradiografia/métodos , Radiologia
17.
Methods ; 188: 112-121, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32522530

RESUMO

Over the last years, the amount, variety, and complexity of neuroimaging data acquired in patients with brain tumors for routine clinical purposes and the resulting number of imaging parameters have substantially increased. Consequently, a timely and cost-effective evaluation of imaging data is hardly feasible without the support of methods from the field of artificial intelligence (AI). AI can facilitate and shorten various time-consuming steps in the image processing workflow, e.g., tumor segmentation, thereby optimizing productivity. Besides, the automated and computer-based analysis of imaging data may help to increase data comparability as it is independent of the experience level of the evaluating clinician. Importantly, AI offers the potential to extract new features from the routinely acquired neuroimages of brain tumor patients. In combination with patient data such as survival, molecular markers, or genomics, mathematical models can be generated that allow, for example, the prediction of treatment response or prognosis, as well as the noninvasive assessment of molecular markers. The subdiscipline of AI dealing with the computation, identification, and extraction of image features, as well as the generation of prognostic or predictive mathematical models, is termed radiomics. This review article summarizes the basics, the current workflow, and methods used in radiomics with a focus on feature-based radiomics in neuro-oncology and provides selected examples of its clinical application.


Assuntos
Neoplasias Encefálicas/diagnóstico , Encéfalo/diagnóstico por imagem , Aprendizado Profundo , Processamento de Imagem Assistida por Computador/métodos , Neuroimagem/métodos , Biomarcadores Tumorais/genética , Encéfalo/patologia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/terapia , Humanos , Processamento de Imagem Assistida por Computador/tendências , Oncologia/métodos , Oncologia/tendências , Modelos Biológicos , Neuroimagem/tendências , Neurologia/métodos , Neurologia/tendências , Prognóstico , Medição de Risco/métodos , Medição de Risco/tendências , Resultado do Tratamento , Fluxo de Trabalho
18.
Curr Opin Neurol ; 34(1): 61-66, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33230033

RESUMO

PURPOSE OF REVIEW: Telemedicine for neuro-ophthalmology (tele-neuro-ophthalmology) has the potential to increase access to neuro-ophthalmic care by improving efficiency and decreasing the need for long-distance travel for patients. Requirements for decreased person-to-person contacts during the COVID-19 pandemic accelerated adoption of tele-neuro-ophthalmology. This review highlights the challenges and opportunities with tele-neuro-ophthalmology. RECENT FINDINGS: Tele-neuro-ophthalmology programs can be used for triage, diagnostic consultation, and long-term treatment monitoring. Formats include telephone appointments, interprofessional collaborations, remote data interpretation, online asynchronous patient communication, and video visits. Barriers to long-term implementation of tele-neuro-ophthalmology arise from data quality, patient engagement, workflow integration, state and federal regulations, and reimbursement. General neurologists may collaborate with local eye care providers for ophthalmic examination, imaging, and testing to facilitate efficient and effective tele-neuro-ophthalmology consultation. SUMMARY: Tele-neuro-ophthalmology has tremendous potential to improve patient access to high-quality cost-effective neuro-ophthalmic care. However, many factors may impact its long-term sustainability.


Assuntos
Oftalmopatias/diagnóstico , Neurologia/métodos , Oftalmologia/métodos , Telemedicina/métodos , COVID-19 , Oftalmopatias/terapia , Humanos , Pandemias , Triagem
19.
Curr Opin Neurol ; 34(1): 84-88, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33230034

RESUMO

PURPOSE OF REVIEW: The aim of this article is to summarize the evidence for visual impairment as a risk factor for visual hallucinations in neurologic disease and recent advances in our understanding of the central visual pathways that mediate this association. RECENT FINDINGS: Recent studies have described the prevalence Charles Bonnet syndrome and questioned its lack of association with cognitive impairment, used advanced neuroimaging to show that disinhibition of the occipital lobe is involved in the pathogenesis of visual hallucinations in Parkinson's disease, and demonstrated that visual impairment because of eye disease is a consistent risk factor for visual hallucinations across a number of different neurodegenerative disease populations. SUMMARY: Through connections between the primary visual cortex and other brain structures, visual function is closely tied to visual hallucinations. Given that the vast majority of vision loss is caused by ophthalmic disease, much of which is preventable or treatable, the detection and treatment of vision loss in at-risk populations may reduce the burden and consequences of visual hallucinations in older adults.


Assuntos
Alucinações/etiologia , Neurologia/tendências , Oftalmologia/tendências , Transtornos da Visão/complicações , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/complicações , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/epidemiologia , Alucinações/diagnóstico , Alucinações/epidemiologia , Humanos , Doenças Neurodegenerativas/complicações , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/epidemiologia , Neurologia/métodos , Oftalmologia/métodos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Prevalência , Fatores de Risco , Transtornos da Visão/diagnóstico , Transtornos da Visão/epidemiologia
20.
Acta Neuropathol Commun ; 8(1): 124, 2020 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-32758285

RESUMO

Recent updates in the classification of central nervous system (CNS) tumors have increased the need for molecular testing. Assessment of multiple alterations in parallel, complex combinations of gene sequence and chromosomal changes, as well as therapy prediction by identification of actionable mutations are the major challenges. We here report on a customized next generation sequencing (NGS)-based DNA panel assay that combines diagnostic and predictive testing and -as a comprehensive approach- allows for simultaneous single nucleotide variant (SNP) / small insertion/deletion (InDel), copy number variation (CNV) and loss of heterozygosity (LOH) detection. We analyzed formalin-fixed and paraffin-embedded (FFPE) DNA from a total of 104 patients with CNS tumors. After amplicon capture-based library preparation, sequencing was performed on the relatively cost-efficient Illiumina MiniSeq platform and evaluated with freely available bioinformatical tools. 57 genes for exonic SNP/InDel calling (19 of those in intronic regions for CNV analysis), 3 chromosomal arms and 4 entire chromosomes for CNV and LOH analysis were covered. Results were extensively validated. Our approach yielded high accuracy, sensitivity and specificity. It led to refined diagnoses in a relevant number of analyzed cases, reliably enabled complex subclassifications (e.g. for medulloblastomas) and identified actionable targets for clinical use. Thus, our single-platform approach is an efficient and powerful tool to comprehensively support molecular testing in neurooncology. Future functionality is guaranteed as novel upcoming biomarkers can be easily incorporated in a modular panel design.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Terapia de Alvo Molecular/métodos , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Feminino , Humanos , Masculino , Oncologia/métodos , Neurologia/métodos , Medicina de Precisão/métodos , Análise de Sequência de DNA
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA