Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
Movement DisorderCognitive DeclineIn the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions : Primary: Number of diagnoses made by NGS Secondary: restriction of the quality of life by unclear disease Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set ) Impact of the diagnosis to therapy and follow-up examinations Time to diagnosis
Orientation in AD Patients: PET-MR Study
Alzheimer DiseaseMild Cognitive ImpairmentDespite the high prevalence of Alzheimer's disease (AD), its underlying mechanisms remain poorly understood. An emerging body of evidence supports disorientation as an early marker for AD-related neurodegeneration. In this study we intend to collect, coregister and analyze Positron Emission Tomography (PET) and , functional and structural magnetic resonance imaging (MRI, fMRI) data from AD-spectrum patients to establish orientation as core disturbance in AD.
MRI Brain Changes Induced by Hyperbaric Oxygen Therapy in Brain Injury Patients
Hyperbaric Oxygen TherapyMild Cognitive ImpairmentIn our institute there is ongoing treatment of brain injury patients with Hyperbaric oxygen therapy. These patients undergo neuro-cognitive function tests in addition to brain imaging studies before and after treatment. The aim of this study was to evaluate the perfusion and microstructure changes seen in MRI in addition to the cognitive tests before and after the treatment.
PolyvasculaR Evaluation for Cognitive Impairment and vaScular Events
Healthy SubjectsThe objective of this study is to characterize the prevalence of clinical or subclinical polyvascular lesions and 4-year progression rate of plaque in intracranial and carotidal arteries in a Chinese community population using vascular imaging techniques; to investigate the both traditional and emerging genetic, metabolomic, and environmental risk factors of presence and progression of intracranial and carotidal plaque; and to investigate the association between polyvascular lesions and future risk of cognitive impairment, cardio-/cerebrovascular events and death.
Pharmacogenetic Study for Topiramate-Induced Cognitive Dysfunction
Cognitive DysfunctionTopiramate (TPM) is an antiepileptic drug with a unique mode of action that is often useful in patients refractory to other drugs. However its use is restricted by the high incidence of cognitive adverse drug reactions (ADRs) that are associated with TPM exposure. TPM has been shown to cause particular cognitive ADRs, characterized by verbal fluency, attention, working memory and language deficits, at a much higher rate than other antiepileptic drugs. There do not appear to be obvious differences between patients that do or do not experience cognitive ADRs when on TPM (e.g. age, sex, concomitant medications, diagnosis), which suggests a genetic contributor.
Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment
Alzheimer's DiseaseDementia1 morePatients with different types of dementia will be recruited and evaluated in national hospital departments for their usual neurological follow-ups. A blood sample will be proposed in the field of this research project, and the biological material will be stored at the DNA and Cell Bank of Institut de Fédératif Recherche (IFR) of Neurosciences (Pitié-Salpêtrière Hospital, Paris). The clinical research network is already set up for Alzheimer's disease and frontotemporal dementias, which permits an evaluation according to a clinical standardized protocol. Among these disorders, a monogenic sub-group has been identified. In Alzheimer's disease, it is associated with the APP, PSEN1 and PSEN2 genes, which account only for 75% of the familial forms with early onset. In frontotemporal dementias, the tau gene mutations account only for 10% of the cases with an autosomal dominant inheritance. The identification of familial forms with a genetic inquiry in the relatives is essential for a greater knowledge of the molecular bases of forms not caused by the known genes, using linkage approaches and candidate gene analysis. The familial forms are also useful for identifying the modifier genes. In the multifactorial forms, the aim is to assemble a wide cohort of patients and controls matched for localizing and identifying susceptibility genetic factors. The strategies will use a candidate gene approach, and in the near future, studies of single nucleotide polymorphisms (SNPs) spread out in the whole genome. Meanwhile, similar approaches, particularly with candidate genes, could be used for identifying predictive factors of tolerance and response to the treatment. Finally, correlations will be performed with seric markers according to each kind of dementia. Specialized clinical teams in diagnosis and follow-up in dementias are assembled for this project, and in the study of neurological disorders of genetic origin.
MORbidity PRevalence Estimate In StrokE
StrokeCVA (Cerebrovascular Accident)16 moreInformation regarding the likely progress of post-stroke symptoms is vitally important to stroke survivors to allow them to plan for the future and to adjust to life after stroke. Moreover, the prevalence of morbidity secondary to stroke is of central importance to Health Professionals to understand the prognosis of the disease in the patients under their care. Additionally, it will also allow commissioners of care, planners and third sector organisations to adapt to and answer the needs of a post-stroke population. Currently, the data collected by national audit programmes are concentrated on what can be termed 'process or process of care' data. The utility of these data are in the ability to audit the care received by stroke survivors on stroke units against evidenced standards for care, thus ensuring evidence based practice. Nevertheless, process of care is only one form of measuring stroke unit care and the audit programmes collect some limited functional status data, data relating to risk-factor co-morbidities and treatment received data. Therefore, the scope of this study is to build on the minimum data set currently collected and to collect post-stroke data in domains not currently collected. The International Consortium for Health Outcomes Measurement (ICHOM) takes important steps to collect data outside of process of care data such as a Patient Reported outcome data in their minimum outcome data set for stroke [currently under review].. Nevertheless, the ICHOM doesn't currently advocate the specific collection of data relating to cognitive impairment or emotional problems secondary to stroke. It is in these important aspects that this study will augment the data set currently advocated by ICHOM to collect data in the areas of cognitive impairment and emotional problems secondary to stroke. Therefore, the aim of this study is to quantify the prevalence of morbidity at six months post-stroke.
Association Between qEEG Measure and Post-Operative Cognitive Dysfunction (POCD) and Postoperative...
Cognitive DysfunctionCognitive complications after major surgery are a common phenomenon. The incidence of Postoperative Cognitive Dysfunction (POCD), may vary from 5% to 25% in adult patients, depending on different risk factors. Age has been strongly associated with cognitive complications. POCD is a prolonged decline in cognitive function that appears after surgery as compared with preoperative functions. In order to classify evaluate POCD, it requires at least 2 measurements. A baseline, completed before surgery and a second measurement, post surgery. In light of the high prevalence of POCD and the difficulties in its prediction, NeuroIndex has developed a quantitative EEG system and software that aim to produces risk predictor index (IS) for POCD. This study aims to evaluate the relationship between the software produced predictor index and the actual POCD events. The qEEG will be monitored during the surgery in addition to the routine clinical practice in operating rooms. POCD will be evaluated using Montreal Cognitive Assessment test (MoCA) prior and post surgery.
Spanish Adaptation and Validation of the Everyday Cognition Battery (ECB).
Occupational TherapyNursing Caries2 moreHYPOTHESIS: The Spanish version of the Everyday Cognition Battery Scale (ECB) is valid and reliable in the Spanish population. OBJECTIVES: • Providing a validated scale in Spanish to evaluate daily cognition in older adults. SPECIFIC OBJECTIVES: Translating the original English version of the ECB into Spanish. Adapting the scale to the sociocultural context of Spain. Checking the psychometric characteristics (reliability and validity) of the translated version . STUDY DESIGN: Cross-sectional descriptive study. Permission to use the ECB scale will be requested to the author, Allaire JC. Translation and adaptation of the scale. Administration of the four tests of the ECB to the individuals participating in the study. Administration of the Rapid Evaluation of Cognitive Functions (RECF) and Lawton and Brody scales. Analysis of the psychometric characteristics of the translated version. The protocol has been authorized by the Ethics Committee of the Salamanca health area to make the project possible.
Postoperative Cognitive Dysfunction in Elderly Urologic Oncology Patients (POCD)
Postoperative Cognitive DysfunctionPostoperative Delirium1 morePostoperative cognitive changes are more common in elderly patients, which can result in poor quality of life, loss of workforce, disability, early retirement, physical-social dependence, increased health care cost and premature mortality. Postoperative cognitive complications are also quite common in extensive oncological surgeries. In this study, our aim is to evaluate the relationship between the development of postoperative cognitive dysfunction (POCD) in geriatric urologic oncology patients with brain injury and inflammatory markers [S100 β, neuron specific enolase (NSE), interleukin 6 (IL-6) and high mobility group box-1 (HMGB-1 protein)].