Genome Wide Association Studies in PsychiatryDr.Guru S Gowda
Neuropsychiatric and neurodevelopmental disorders are multifactorial in origin with multiple genetic determinants and its interaction with others resulting in clinically diverse phenotypes. Affected individuals harbour different risk alleles in a heterogeneous genetic background that make candidate disorder genes difficult to detect via studies. One such effort to find the influence of genetic factors is Genome Wide Association Study (GWAS), which is an approach to identify common genetic variations like Single-Nucleotide Polymorphism (SNP) and Copy Number Variation (CNV) associated with a disease / traits. It is a powerful method for such investigations, particularly by enabling the integrated analysis of SNPs and CNVs. There are now hundreds of candidate genes with DNA copy number variations or single nucleotide polymorphisms (SNPs) characterised from clinically diagnosed individuals.
With more mature molecular and statistical methods, we are entering a new era of Network and Pathway Analyses. This may reveal coherent biological processes contributing to psychiatric illnesses but the evidence is limited to date.
This seminar aims at providing a broad overview on GWAS - History, approach to G W A S, GWAS studies in Psychiatry and its Implication, complex network and pathway analysis concepts, current challenges etc, and ends with conclusion and future directions.
Genome Wide Association Studies in PsychiatryDr.Guru S Gowda
Neuropsychiatric and neurodevelopmental disorders are multifactorial in origin with multiple genetic determinants and its interaction with others resulting in clinically diverse phenotypes. Affected individuals harbour different risk alleles in a heterogeneous genetic background that make candidate disorder genes difficult to detect via studies. One such effort to find the influence of genetic factors is Genome Wide Association Study (GWAS), which is an approach to identify common genetic variations like Single-Nucleotide Polymorphism (SNP) and Copy Number Variation (CNV) associated with a disease / traits. It is a powerful method for such investigations, particularly by enabling the integrated analysis of SNPs and CNVs. There are now hundreds of candidate genes with DNA copy number variations or single nucleotide polymorphisms (SNPs) characterised from clinically diagnosed individuals.
With more mature molecular and statistical methods, we are entering a new era of Network and Pathway Analyses. This may reveal coherent biological processes contributing to psychiatric illnesses but the evidence is limited to date.
This seminar aims at providing a broad overview on GWAS - History, approach to G W A S, GWAS studies in Psychiatry and its Implication, complex network and pathway analysis concepts, current challenges etc, and ends with conclusion and future directions.
Circulating Biomarkers for Alzheimer's Disease: Neurodegenerative Disorders ...QIAGEN
Alzheimer's disease (AD) is a complex neurodegenerative disorder. Circulating miRNAs hold great promise in the discovery of non-invasive and novel biomarkers for AD diagnosis and prognosis. This slideshow presents the role of miRNAs in AD and details current progress in biomarker discovery. Various tools for pathway-focused and genome-wide miRNA expression profiling, miRNA functional studies and target identification are also included.
Metachromatic Leukodystrophy (MLD) is a rare neurodegenerative disorder. It causes demyelination of the brain, causing motor and developmental regression,
seizures, deafness, blindness, dementia, and can lead to death.
We extracted data from evaluations and reports of 71 MLD patients who were evaluated at the Program for the Study of Neurodevelopment in Rare Disorders between 2000 and 2012 -- focusing specifically on adaptive behavior and motor abilities.
Circulating Biomarkers for Alzheimer's Disease: Neurodegenerative Disorders ...QIAGEN
Alzheimer's disease (AD) is a complex neurodegenerative disorder. Circulating miRNAs hold great promise in the discovery of non-invasive and novel biomarkers for AD diagnosis and prognosis. This slideshow presents the role of miRNAs in AD and details current progress in biomarker discovery. Various tools for pathway-focused and genome-wide miRNA expression profiling, miRNA functional studies and target identification are also included.
Metachromatic Leukodystrophy (MLD) is a rare neurodegenerative disorder. It causes demyelination of the brain, causing motor and developmental regression,
seizures, deafness, blindness, dementia, and can lead to death.
We extracted data from evaluations and reports of 71 MLD patients who were evaluated at the Program for the Study of Neurodevelopment in Rare Disorders between 2000 and 2012 -- focusing specifically on adaptive behavior and motor abilities.
Clinical Examination of Nervous System - PPT -- By Prof. Dr. R. R. Deshpande
• This PPT explains how to perform Central Nervous System Examination systematically & step by step .This includes (1) Examination for higher functions (2) Examination of cranial nerves (3) Examination of sensory system (4) Examination of motor system (5) Examination of reflexes (6) Examination of gait (7) Examination of spine and cranium (8) Examination for special signs (such as cerebellar signs)
• Visit – www.ayurvedicfriend.com
• Phone – 922 68 10 630
Trying to show some ethics about clinical genetics... There are many peoples in our society who believes about the natural process but they do not want to accept the works of the bio technologist and also about the mutational process. but as a bio technologist, we know that this process can be done by us in many ways. but general people do not want to accept our works..here are some ethics about the clinical genetics...
Genetic testing (evaluation)
This is a type of clinical test that identifies changes in chromosomes, genes, or proteins. Genetic testing can provide information about a person's genes and chromosomes.
The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.
At present, more than 1,000 types of genetic tests are currently in use, and more are being developed.
Methods used for genetic testing:
Molecular genetic tests (or gene tests): It tests single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
Chromosomal genetic tests: It analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes.
Biochemical genetic tests: It tests the amount or activity level of protein abnormalities to indicate changes in the DNA that result in a genetic disorder.
Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
The leaflet aims at providing general objective information on genetic tests, including their nature and the potential implications of their results. It presents the different types of tests available, their applications in the medical field and the extent and limit of the significance of the information resulting from these tests.
More information - www.coe.int/bioethics
Current Topics in CareA Case of Inappropriate ApolipoproteOllieShoresna
Current Topics in Care
A Case of Inappropriate Apolipoprotein E
Testing in Alzheimer’s Disease Due to
Lack of an Informed Consent Discussion
Christian D. Furman, MD, MSPH, AGSF1,
Lori A. Earnshaw, MD2, David J. Doukas, MD3,
Lindsay A. Farrer, MD4, and Robert P. Friedland, MD3
Abstract
Background/Objective: Apolipoprotein E (APOE) genetic testing is used to assist in the diagnosis of Alzheimer’s Disease (AD).
Whenever genetic testing is performed, an informed consent process should occur. Methods: In this case, a patient with memory
loss presented to the neurologist. The neurologist ordered a lumbar puncture (LP). The LP was performed by a neuroradiologist
who also ordered APOE genetic testing. The patient received no genetic counseling, nor was an informed consent document
offered. Results: After the testing was completed, the neurologist faced an ethical dilemma. His solution was to offer the genetic
testing to the patient in order to have an informed consent process. It was clear that the patient and her adult children did not
want the genetic testing and that they would have been burdened with the results. The neurologist opted not to disclose the
results. Conclusion: Genetic counseling and a signed informed consent document are required prior to any genetic testing. In
this case, neither occurred and it led to an ethical dilemma that was ultimately resolved by the neurologist. As the population ages
and AD becomes more prevalent, there is a need to expand the workforce of genetic counselors and educate physicians who
commonly treat AD about genetic testing.
Keywords
genetic testing, Alzheimer’s disease, ethics, informed consent
Introduction
Twenty years ago, the apolipoprotein E (APOE) e4 allele was
found to confer susceptibility to late-onset Alzheimer’s dis-
ease (AD) in caucasians.1 This association was extended to
noncaucasian populations, and the APOE-associated risk of
AD was demonstrated to vary with age and sex.2 Although the
presence of the e4 allele in a person with dementia increases
the probability of AD, this finding is not ‘‘diagnostic’’ of the
disease because more than one-half of e4 carriers surviving
to age 80 years do not develop AD.2,3 Thus, APOE e4 is best
viewed as a genetic risk factor for AD rather than a genetic
marker of the disease4 because the risk of developing AD for
individuals with at least 1 e4 allele by age 80 years is esti-
mated to be 29% compared to 9% for individuals lacking e4.5
Among caucasians, the odds of developing AD are 2 to 3 times
higher for e4 heterozygotes and 12 to 14 times higher for e4
homozygotes compared to persons who are APOE 3/3, the most
common genotype.2 However, these risks are dependent on age
and gender and are lower in some ethnic groups including African
Americans, Indians, and Israeli Arabs.2,6-9 Further, the APOE risk
appears to be attenuated by adequate control of hypertension.10
The 2/3 genotype is associated with an approximately 40%
decreased risk of ...
Examples of Traditional vs. Precision Therapies
1) James Kennedy, Centre for Addiction and Mental Health
2) Niya Chari, CBCN
3) Michael Duong, Roche
4) Linsay Davis, AveXis
5) Josh Silvertown, Bayer Canada
https://userupload.net/06gt5zcwvh90
Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.[1] The process integrates:
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources
Counseling to promote informed choices and adaptation to the risk or condition.
Epilepsy Management: Key issues and challengesPramod Krishnan
This brief presentation summarises the key issues and challenges in Epilepsy management, including diagnosis, treatment, compliance, special populations, adverse effects, psychiatric comorbidities and ASM withdrawal.
This presentation focusses on the importance of diagnostic biomarkers for Alzheimer's disease. MRI, amyloid PET and CSF biomarkers are discussed in detail.
This presentation looks at the benign or non-epileptiform variants in EEG, their characteristics and identification. Examples of the common benign variants are provided in the presentation.
This presentation reviews the common artifacts in EEG, their identification and rectification. Examples of various artifacts are provided in the presentation.
This is a brief review of autoimmune epilepsies, especially autoimmune encephalitis, SREAT, NORSE, FIRES and Rasmussen's encephalitis. A brief overview of investigations and treatment is included.
This presentation looks at the role of Pregabalin in refractory trigeminal neuralgia and chemotherapy induced peripheral neuropathy through illustrative case studies.
This review focusses on the role of role of gut microbiota in health and disease, specifically multiple sclerosis. It looks at the interaction of gut microbiota, enteric nervous system, central nervous system, neuroendocrine system in the pathogenesis of multiple sclerosis
This presentation summarises the importance of genetics in epilepsy, whom to test, and the various tests available. It looks at the role of genetics in various forms of epilepsy and recent advances in precision medicine.
EEG in convulsive and non convulsive seizures in the intensive care unitPramod Krishnan
Case based discussion regarding the utility of EEG in the management of convulsive and non convulsive seizures, including status epilepticus in the intensive care unit
A review of epilepsy in the elderly, the etiopathogenesis, clinical challenges, diagnosis, use of antiseizure drugs and outcomes. Also the various special considerations in managing elderly patients with epilepsy.
A review of the common antiseizure drugs with broad spectrum action. We look at the major evidence in favour of valproate, topiramate, perampanel and brivaracetam.
Treatment of epilepsy polytherapy vs monotherapyPramod Krishnan
This presentation reviews the evidence regarding use of early polytherapy in patients with epilepsy with regards to seizure control and adverse effects. The advantages and disadvantages of polytherapy compared to monotherapy is addressed.
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
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Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.