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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons and usually results in death within 2-5 years of symptom onset. Researchers used nuclear magnetic resonance (NMR) spectroscopy to analyze cerebral spinal fluid (CSF) samples from ALS patients and controls to search for biomarkers in early ALS. The study found that NMR spectroscopy, when combined with other analytical techniques, could detect changes in certain CSF metabolite concentrations for ALS patients. However, the mechanisms of ALS are complex and no single biomarker has been identified that could replace regular patient checkups.
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The document discusses agenesis of the corpus callosum (ACC), which is a congenital absence of the corpus callosum. Key points include:
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The document summarizes key points about electrodiagnostic evaluation of amyotrophic lateral sclerosis (ALS):
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This document summarizes a research study that aimed to identify biomarkers for amyotrophic lateral sclerosis (ALS) through profiling of cerebrospinal fluid from ALS patients and control subjects. The study utilized surface-enhanced laser desorption/ionization-time of flight mass spectrometry to analyze cerebrospinal fluid samples. Three potential biomarkers - transthyretin, cystatin C, and carboxy-terminal fragment of neuroendocrine protein 7B2 - were identified, and two were validated as biomarkers that distinguished ALS patients from control subjects.
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Pituitary apoplexy is a medical emergency caused by hemorrhage or infarction of the pituitary gland. It occurs in around 6.2 cases per 100,000 people annually and is more common in men in their 50s and 60s. Symptoms include a sudden severe headache, ophthalmoplegia, and endocrine dysfunction like corticotropic deficiency. Diagnosis is made using CT or MRI imaging of the pituitary. Treatment involves hydrocortisone replacement and sometimes transsphenoidal surgery to decompress the gland. Prompt management is important to prevent vision loss and other complications.
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Austin Journal of Tropical Medicine & Hygiene is a comprehensive Open Access peer reviewed scientific Journal that covers multidisciplinary fields. We provide limitless access towards accessing our literature hub with colossal range of articles. The journal aims to publish high quality varied article types such as Research, Review, Short Communications, Case Reports, Perspectives (Editorials), Clinical Images.
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This document discusses genetic polymorphisms and summarizes several research studies. It begins by defining genetic polymorphisms as variations in regulatory DNA. It then summarizes three key points:
1) A study that used a cross-species strategy to identify 6 causal genes for Alzheimer's disease by studying interactions between human genes and neurotoxicity in the fly model.
2) Research confirming the association between a genetic variant in the PLA2R gene and membranous nephropathy through genome-wide association studies and previous Asian studies.
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This document discusses genetic polymorphisms and summarizes several research articles. It begins by defining genetic polymorphisms as variations in regulatory DNA. It then summarizes a study that used a cross-species strategy to identify genes involved in Alzheimer's disease by comparing human and fly genomes. Another section summarizes findings from a study linking certain genes to membranous nephritis. Specifically, it discusses the association between this disease and the PLA2R receptor gene. The document concludes by discussing the medical utility of these findings, such as enabling early diagnosis and treatment.
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1) The establishment of an NCL research program in Argentina in 2003 to study different forms of NCL in Latin America.
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3) Ongoing efforts to investigate the cellular biology and metabolic pathways of the CLN8 protein, identify new biomarkers for disease monitoring, and characterize the c.1A>G mutation's effects.
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IL2Rα and IL7Rα were the two genes of focus.
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1) Two Mexican sisters were found to have choreoacanthocytosis (CHAC), a rare hereditary neurodegenerative syndrome.
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3) Genetic testing revealed both sisters were homozygous for the same frameshift mutation in the VPS13A gene known to cause CHAC. This confirms the diagnosis and suggests their parents were consanguineous.
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Credit goes equally to Dr Siraj Uddin, M.V.Sc Scholar, IVRI and Dr. Gazanfar Abass, M.V.Sc. Scholar, VPH, IVRI.
For Further reference contact at gazanfar0966@gmail.com
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This document discusses genetics research on Alzheimer's disease. It covers several key points:
- Three genes - PSEN1, PSEN2, and APP - are responsible for early-onset Alzheimer's disease in rare familial cases. PSEN1 mutations account for the most cases.
- ApoE4 is the strongest genetic risk factor for the more common late-onset Alzheimer's disease. Carriage of one or two ApoE4 alleles increases risk and decreases amyloid clearance.
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Resume
Juan Carlos Torres Sanchez is seeking research experience in immunology and virology. He has a B.A. from the University of Puerto Rico-Cayey Campus and conducted research as part of the Summer Bridge Program and a high school student research program. His research experience includes participating in a high school student research program and authoring a paper on predicting mutations and strain comparison of Clostridium Tetani's toxin. He has skills in teamwork, organization, responsibility, time efficiency, microscopy techniques, micropipetting, and scientific review paper writing.
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Bioinformatics, comparative genemics and proteomics
Bioinformatics, comparative genemics and proteomics
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03.18.2016_LANDAZURI_RSE and NCSE.ppt
This document provides an overview and discussion of refractory status epilepticus (RSE) and non-convulsive status epilepticus (NCSE). It defines these conditions and reviews their clinical characteristics, pathophysiology, treatment options including antiepileptic drugs, anesthesia, surgery, hypothermia and immunotherapy. It examines factors that influence prognosis and outcomes such as etiology, age, seizure duration and EEG findings. It suggests RSE treatment should be guided by etiology, duration of seizures and EEG characteristics as these most influence patient prognosis and recovery.
Neurological Aspects of Tuberous Sclerosis
Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organ systems. More than 90% of individuals experience neurological effects including epilepsy and neuropsychiatric symptoms. Brain imaging reveals tubers, subependymal nodules, and other abnormalities. Treatment involves early and aggressive treatment of epilepsy as well as mTOR inhibitors which target the molecular basis of the condition.
2018 BDSRA Gayko
Early signs and symptoms of childhood onset neuronal ceroid lipofuscinosis (NCL) subtypes were identified through a literature review. The most common age of onset is between two and five years. Early symptoms include neurological regression, speech delay, ataxia, and seizures. Facilitators of early diagnosis include parents identifying subtle symptoms and increased awareness among healthcare professionals, while lack of awareness and subtle initial symptoms can hinder diagnosis.
Peripheral nerve ultrasonography in patients with transthyretin amyloidosis
This study used ultrasound to examine peripheral nerve morphology in 33 patients with transthyretin (TTR) amyloidosis and 21 asymptomatic TTR gene mutation carriers, compared to 50 healthy controls. Nerve cross-sectional areas were significantly larger in patients, especially in proximal nerve segments and common entrapment sites. Nerves were also thicker in carriers compared to controls, but less so than in patients. The pattern of nerve thickening may be due to ischemic nerve damage in watershed zones of proximal limb segments, similarly seen in other neuropathies.
Neuropathologic asses alzh dis
The document provides revised guidelines for the neuropathologic assessment of Alzheimer's disease (AD). Key changes from the 1997 criteria include: 1) separating the clinical diagnosis of AD from the neuropathological assessment of AD brain changes, 2) emphasizing the assessment of co-existing brain pathologies that may contribute to cognitive impairment, and 3) providing updated guidance on the neuropathological assessment of AD changes, Lewy body disease, vascular brain injury, and hippocampal sclerosis.
03.18.2016 landazuri rse and ncse
This document provides an overview of refractory status epilepticus (RSE), including definitions, pathophysiology, treatment options, and outcomes. It discusses non-convulsive status epilepticus (NCSE) and how it can be difficult to diagnose. For RSE treatment, it reviews use of anti-epileptic drugs (AEDs), intravenous anesthesia like barbiturates, midazolam and propofol, and non-anesthetic options. Factors that influence prognosis are duration of seizures, etiology, age, and EEG characteristics like burst suppression which correlate with poorer outcomes. The document suggests RSE treatment should be individualized based on these prognostic factors.
Positron emission tomographic scan
PET scans use radioactive tracers and detectors to generate 3D images of metabolic processes in the body. They have various applications in neurology for diagnosing and monitoring conditions like dementia, epilepsy, movement disorders, and brain tumors. For example, PET can help differentiate Alzheimer's from other dementias based on patterns of hypometabolism in temporal and parietal lobes. It is also useful for localizing epileptic foci before epilepsy surgery. The document discusses the history, mechanisms, common tracers, and limitations of PET scanning as well as its role in evaluating specific neurological conditions and potential future applications.
MOJPB-03-00085
1) The document discusses emerging proteomics and genomics biomarkers for diagnosing Alzheimer's disease (AD), noting that current biomarkers like cerebrospinal fluid levels have limited accuracy.
2) It suggests that multi-biomarker approaches combining proteins associated with AD and vascular diseases may improve diagnostic accuracy.
3) MicroRNAs found in biofluids like cerebrospinal fluid and blood show potential as AD biomarkers, and combining multiple biomarkers into diagnostic profiles could help predict which individuals will progress from mild cognitive impairment to AD dementia.
Dementia nmt
This document summarizes nuclear medicine imaging techniques for diagnosing dementia. It discusses how [18F]FDG PET has been used to detect changes in brain glucose metabolism associated with Alzheimer's disease (AD), often years before symptoms appear. More recently, PET imaging of amyloid-β plaques has provided a way to detect a key pathological feature of AD in living patients. The document reviews these nuclear medicine approaches and their potential to improve early detection and differential diagnosis of dementia.
2007 CJD Presentation - Graham Steel
This document discusses the formation and roles of support groups for transmissible spongiform encephalopathies (TSEs) like Creutzfeldt-Jakob disease (CJD) over time. It outlines the timeline of when major support groups around the world were established from 1992 to present. It also discusses the challenges faced in understanding and finding treatments for these fatal neurodegenerative diseases.
Dokotorat_abstract_MJMS
This document summarizes 22 PhD theses defended in 2011 at the Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of Macedonia. It provides English abstracts of the theses, including topics studied, methods, results, and conclusions. The theses covered areas like juvenile myoclonic epilepsy, treatment of lung cancer, dermatophytoses, and more. 9 theses lacked keywords and most (12) had structured abstracts. The editorial board did not verify the quality or content of the abstracts.
Prions (Infectious Protein)
This is my report on our cell biology. I hope it could help you.
Objectives: Identify infectious proteins (PrPsc), difference of PrPc and PrPsc, list of neurodegenerative diseases that caused by prions.
Vocal fold motion impairment an early sign in msa clinical case 29-04-2021
1) A 68-year-old female presented with progressive dysphonia, dysphagia, and dyspnea since 2002. Examinations found laryngeal diplegia but were otherwise normal.
2) In 2017, she was diagnosed with myasthenia based on tests. However, in 2021 she developed additional parkinsonian signs and was found to have multiple system atrophy based on examinations.
3) Vocal fold impairment can be an early sign of multiple system atrophy and may precede diagnosis in some cases. Laryngeal examinations should be considered a diagnostic tool for multiple system atrophy given their ability to detect irregularities that differentiate it from Parkinson's disease.
Septic Encephalopathy
Septic encephalopathy is characterized by diffuse brain dysfunction that occurs in patients with sepsis without direct evidence of intracranial infection or metabolic causes unrelated to the infectious process. It is a common complication among critically ill patients, occurring in 9-71% of cases. Diagnosis involves assessing for altered mental status in the setting of sepsis through EEG, biomarkers of brain injury, and neuroimaging while excluding other potential causes. Management focuses on early treatment of the underlying sepsis through organ support and intensive care, with adjunctive therapies like EEG monitoring and antipsychotics potentially helping to guide care and symptoms.
Untitled document.pdf
This document outlines a study protocol for a thesis examining the role of diffusion tensor imaging (DTI) in diagnosing Parkinson's disease and similar disorders. The candidate proposes using DTI to evaluate patients with Parkinson's disease or Parkinson-plus syndromes and compare results to controls. Supervisors and the university ethics board will oversee the study. Facilities exist at the university to conduct DTI scans and analyze the data. The candidate will obtain informed consent and ensure no harm comes to subjects.
Biomarkers for Parkinson's Diseases
Parkinson's disease is a brain disorder that progressively affects a person’s ability to control body movements, caused by a disorder of certain nerve cells in a part of the brain that produces dopamine, a chemical messenger the brain uses to help direct and control body movement.
Early diagnosis of Parkinson's disease gives you the best chance of a longer, healthier life. This presentation covers the information about biomarkers for Parkinson Diseases which include biological, physiological and imagine candidate / novel biomarkers.
Juan carlos ppt als
This document discusses using proteomics and metabolomics techniques to identify biomarkers for early detection of Amyotrophic Lateral Sclerosis (ALS). It describes previous proteomics studies that identified three biomarkers in CSF and interest in cystatin C as a diagnostic biomarker. Metabolomics studies using NMR on CSF have also found 17 relevant metabolites and perturbations in glucose metabolism. The conclusion is that proteomics and metabolomics show promise as techniques for early ALS detection but require further validation studies.
Aaic poster long form-asd-fxs-ad-7-13-2017
The document summarizes research comparing levels of amyloid-β precursor protein (APP) metabolites in brain tissue from subjects with Alzheimer's disease (AD), autism spectrum disorder (ASD), fragile X syndrome (FXS), and age-matched controls. The study found elevated levels of toxic amyloid-β peptide and total APP in AD compared to controls. ASD subjects had reduced amyloid-β levels compared to controls, potentially due to higher levels of the enzyme ADAM17 that promotes a non-toxic APP processing pathway. FXS subjects showed increased levels of sAPPα and total sAPP compared to controls, paralleling changes seen in AD. The results suggest ASD may partially result from early-life "amyloid-
Progressive Muscular Atrophy
Progressive muscular atrophy (PMA) is a rare motor neuron disease characterized by isolated lower motor neuron degeneration. It presents with asymmetric distal weakness and some patients develop bulbar or upper motor neuron signs. Diagnosis requires evidence of progressive lower motor neuron dysfunction in at least two body regions based on clinical and electrodiagnostic testing. There is no cure so treatment is supportive. Prognosis varies but median survival is typically longer than amyotrophic lateral sclerosis.
Comparison of clinical, radiological and outcome characteristics of ischemic ...
Here is the latest publication from the department of Neurology in the Journal of Neurology Research, titled, ’Comparison of Clinical, Radiological and Outcome Characteristics of Ischemic Strokes in Different Vascular Territories’ authored by Ashraf V Valappila, c, Dhanya T Janardhanana, Praveenkumar Raghunatha, Abdulla Cherayakkatb, Girija ASa
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Peripheral nerve ultrasonography in patients with transthyretin amyloidosis
Peripheral nerve ultrasonography in patients with transthyretin amyloidosis
Vocal fold motion impairment an early sign in msa clinical case 29-04-2021
Vocal fold motion impairment an early sign in msa clinical case 29-04-2021
Comparison of clinical, radiological and outcome characteristics of ischemic ...
Comparison of clinical, radiological and outcome characteristics of ischemic ...
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Juan carlos review paper final
Proteomics and metabolomics studies are investigating biomarkers for early detection of amyotrophic lateral sclerosis (ALS). Proteomics identified three biomarkers, including decreased transthyretin and increased cystatin C levels. Metabolomics identified 17 potential biomarkers by analyzing cerebrospinal fluid and found perturbations in glucose metabolism. While these areas of research have advanced biomarker identification, validation of results is still needed. Continued studies may allow biomarkers to be used in routine patient checkups to enable early diagnosis and treatment of ALS.
Reflection 3 official
Leiddy Alvarado gave a seminar about her research using metabolomic techniques like NMR and MS to identify biomarkers for early detection of breast cancer recurrence in patients. Her research has identified eleven potential biomarkers and passed pre-validation testing, giving hope that a simple blood test could predict prognosis without invasive surgery. If fully validated and commercialized, this technique could allow patients to learn their prognosis through a basic blood test instead of surgery or high medical costs. Metabolomic studies may also be useful for detecting biomarkers of other diseases beyond cancer.
Reflection 2 official
The seminar exposed the author to new concepts in proteomics and biomarkers. Biomarkers help trace cancers by identifying sets of proteins encoded in a genome. Mass spectrometry is important for discovering protein biomarkers by analyzing serum and tissue samples. However, proteomics presents challenges in determining which potential biomarkers identified are most likely to be valid, as many may be identified but require further validation stages to identify the ones most effective. It is difficult to reach the final validation stage, requiring perseverance from investigators.
The reflection abut te first seminar
Jessian Muñoz, a graduate student at New Jersey Medical School, gave a seminar discussing cancer stem cells and their role in brain tumors. Cancer stem cells may be the primary cause of brain tumors, as chemotherapy often fails to target these cells specifically. The seminar addressed how cancer stem cells can reemerge after treatment and explained the discovery of microRNAs' involvement in cancer signaling. Jessian's presentation demonstrated how scientific understanding advances and how personal goals can change during one's studies.
Trabajo yunque + guanica
This document compares the Yunque Rainforest and Guanica Dry Forest biomes in Puerto Rico. The Yunque Rainforest receives 200-400 cm of annual precipitation and supports a diversity of broadleaf trees, epiphytes, and 200+ plant species. The Guanica Dry Forest receives 150-200 cm annually with a long dry season, and its plants like button mangroves and acacias have adaptations like thorns and reduced leaves to resist water loss. Methodologies conducted in each forest examined soil properties, temperature, and vegetation differences driven by their distinct climates.
Propuesta de rise completa
This study aims to demonstrate how glucose levels affect beta cell regeneration in type 1 diabetic rats. Rats will be divided into three groups: non-diabetic controls, and two diabetic groups with induced high or moderate glucose levels. Glucose levels and glycated hemoglobin will be measured over six months. The researchers hypothesize that the group with moderate glucose levels will regenerate 50% of beta cells due to better glucose metabolism and control.
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Biblio 2 official
- 1. Juan Carlos Torres Sánchez #804-11-9230 BIOL 3095 Blasco H, Corcia P, Moreau C, Veau S, Fournier C, Vourc’h P, Emond Patrick, Gordon P, PradatPF, Praline J, Devos D, Desbarats L and Andres CR. 2010. H-NMR- Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis. Plos One. 5(10):e13223 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons. Patients usually live 2-5 years after symptom onset with an unknown cause. In this research,samples were collected from the cerebral spinal fluid (CSF) of ALS patients and from subjects that did not have a neurodegenerative disease. Metabolomics studies were performed on the samples using NMR (Nuclear Magnetic Resonance) spectroscopy to find biomarkers in the early stages of the disease, and to evaluate certain biochemical factors that are involved in ALS. The researchers are aware that this study only focused on nuclear magnetic resonance (NMR), but to achieve a superior result, the combinations of different approache is better. The results demonstrated that H NMR spectroscopy combined with other analysis techniques could detect certain changes in the concentration of some CSF metabolites in ALS. The mechanisms involved in amyotrophic lateral sclerosis are very complex and none have been identified as useful biomarkers that can substitutefor the patient’sroutine check up.