Progeria (HGPS), also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years.
Progeria (HGPS), also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years.
Autosomal recessive inheritance refers to the pattern of inheritance of a condition directly or indirectly due to a recessive faulty gene copy located on an autosome Conditions that follow a pattern of autosomal recessive inheritance usually affect men and women equally and include cystic fibrosis, thalassaemia, Tay-Sachs disease and haemochromatosis. These autosomal recessive conditions are more common in individuals of certain ethnic or cultural backgrounds Where both parents are unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, there is 1 chance in 4 (25% chance) in every pregnancy that their child will inherit the faulty gene copy from both parents and be affected by or predisposed to develop the condition When only one parent is an unaffected carrier of the autosomal recessive faulty gene, there is no chance that their child will be affected by or predisposed to develop the condition Where both parents affected by the condition, they will both have two copies of the autosomal recessive faulty genes. All of their children will also be affected by or predisposed to develop the condition Where one parent is an unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, and the other parent is affected by the condition, 1 chance in 2 (50% chance) in every pregnancy that they will have a child who inherits both copies of the faulty gene. In this case, the child will be affected or predisposed to develop the condition
Autosomal recessive inheritance refers to the pattern of inheritance of a condition directly or indirectly due to a recessive faulty gene copy located on an autosome Conditions that follow a pattern of autosomal recessive inheritance usually affect men and women equally and include cystic fibrosis, thalassaemia, Tay-Sachs disease and haemochromatosis. These autosomal recessive conditions are more common in individuals of certain ethnic or cultural backgrounds Where both parents are unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, there is 1 chance in 4 (25% chance) in every pregnancy that their child will inherit the faulty gene copy from both parents and be affected by or predisposed to develop the condition When only one parent is an unaffected carrier of the autosomal recessive faulty gene, there is no chance that their child will be affected by or predisposed to develop the condition Where both parents affected by the condition, they will both have two copies of the autosomal recessive faulty genes. All of their children will also be affected by or predisposed to develop the condition Where one parent is an unaffected carriers of the autosomal recessive faulty gene for a particular genetic condition, and the other parent is affected by the condition, 1 chance in 2 (50% chance) in every pregnancy that they will have a child who inherits both copies of the faulty gene. In this case, the child will be affected or predisposed to develop the condition
Shigellosis = inflammation of intestines (especially the colon) with accompanying severe abdominal cramps, tenesmus and frequent, low-volume stools containing blood, mucus and fecal leukocytes.
Epidemiology, branch of medical science that studies the distribution of disease in human populations and the factors determining that distribution, chiefly by the use of statistics. Unlike other medical disciplines, epidemiology concerns itself with groups of people rather than individual patients and is frequently retrospective, or historical, in nature. It developed out of the search for causes of human disease in the 19th century, and one of its chief functions remains the identification of populations at high risk for a given disease so that the cause may be identified and preventive measures implemented.
A variety of tools, including mortality rates and incidence and prevalence rates, are used in the field of epidemiology to better understand the characteristics of disease within and across populations. In addition, epidemiologic studies may be classified as descriptive or analytic, depending on whether they are intended to characterize disease or test conclusions drawn from descriptive surveys or laboratory observations. Information from epidemiologic studies frequently is used to plan new health services and to evaluate the overall health status of a given population. In most countries of the world, public-health authorities regularly gather epidemiologic data on specific diseases and mortality rates in their populaces.
The field of epidemiology is highly interdisciplinary. In addition to its close ties to statistics, particularly biostatistics, it relies heavily on the concepts, knowledge, and theories of such disciplines as biology, pathology, and physiology in the health and biomedical sciences as well as on the disciplines of anthropology, psychology, and sociology in the behavioral and social sciences.
Historical development
Epidemiology emerged as a formal science in the 19th century. However, its historical development spanned centuries, in a process that was slow and unsteady and aided by the contributions of many individuals.
One of the first major figures in the historical development of epidemiology was the ancient Greek physician Hippocrates, who is traditionally regarded as the father of medicine. Hippocrates is presumed to have written the Epidemics and On Airs, Waters, and Places, works in which he attempted to explain the occurrence of disease on a rational rather than supernatural basis. Hippocrates recognized disease as a mass phenomenon as well as one affecting individuals.
Another significant contribution to the foundation of epidemiology was made in the 17th century, with the work of English statistician John Graunt. Graunt was the first person to analyze the bills of mortality, which recorded the weekly counts of christenings and deaths in London. In 1662 Graunt published the results of his findings in Natural and Political Observations...Made upon the Bills of Mortality. He found that although male births consistently outnumbered female births, males no longer outnumbered females by the time they reached their
Intestinal Parasite Infections Affect Billions of People WorldwideMediterranea Pte Ltd
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Watch the Intestinal Parasites Infections presentation at http://youtu.be/0WN-u-yQS5Q
Intestinal Parasitic Infections such as hookworms, whipworms and roundworms, affect billions of people and kill millions annually.
Intestinal parasite infections cause diarrhea for an extended period of time, blood in the stool, dehydration, they aggravate malnutrition and weight loss, cause protein & micronutrition depletion, promote anaemia and fatigue. Specific negative effects include intestinal inflammation and changes in gastrointestinal physiology. And if left untreated, leads to irreversible organ damage. Parasite infections inhibit growth, and increase morbidity and mortality.
Parasitic diseases are a present and worsening threat to human health and welfare around the globe. Therefore, health care resources must be used for their control, and before that, to reliably diagnose Intestinal Parasite infections.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
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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.
New Drug Discovery and Development .....NEHA GUPTA
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The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2ā3 criteria; moderate AUD: 4ā5 criteria; severe AUD: 6ā11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
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.
Bowmanās 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
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
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As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Departmentās official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
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Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
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Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
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RESULTS: Overall life span (LS) was 2252.1Ā±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years ā 64.8%, 20 years ā 42.5%. 513 LCP lived more than 5 years (LS=3124.6Ā±1525.6 days), 148 LCP ā more than 10 years (LS=5054.4Ā±1504.1 days).199 LCP died because of LC (LS=562.7Ā±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0āN12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0āN12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
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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
Pharynx and Clinical Correlations BY Dr.Rabia Inam Gandapore.pptx
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Progeria.2
1.
2. ā¢ Progeriaor(HutchinsonāGilfordprogeriasyndromeis anextremelyraregenetic
disorder.
ā¢ The wordprogeria comes fromtheGreek words (pro meaning "before"or
"prematureā, andgeria meaning "oldageā).
ā¢ Progeriawasfirstdescribed in 1886by (JonathanHutchinson), itwasalso described
independentlyin 1897by HastingsGilford.Theconditionwaslaternamed
(HutchinsonāGilfordprogeria syndrome).
ā¢ Thedisorderhasavery low incidencerate,occurring in an estimated1 per8 million
live births.
ā¢ Children withProgeriagenerally appearnormalatbirth,by 12monthssigns and
symptoms, such asslowgrowthandhairlossbegin toappear.
ā¢ Affectsbothsexesequallythroughoutthe world.
ā¢ Thereare100knowncasesin theworld.Approximately140 caseshavebeen
reportedin medical history.ā¢ the averagelife expectancyforachild with progeriais about13years, butsomewiththe diseasedie
youngerandsomelive 20 yearsor longer.
3. ā¢ Researchers have discovered asinglegenemutationresponsible forProgeria.
ā¢ Progeria(HGPS)is causedby amutationinthe gene calledLMNA.
ā¢ The twomajorproteins producedfrom this gene,lamin A andlamin Caremade inmost ofthe body'scells.
ā¢ Lamins AandCare structuralproteins called intermediate filament proteins.Intermediate filaments
providestabilityand strengthto cells.
ā¢ This mutationchanges asingleDNA buildingblock (nucleotide) inthe gene. Specifically the mutation
replaces the nucleotidecytosinewith the nucleotidethymineatposition 1824(writtenas C1824T).
ā¢ The C1824T mutationleads toanabnormalversion ofthe lamin A proteincalled Progerin,which is
missing50 amino acids.
4. ā¢ Progerin is the protein which produced by a new
version of lamin A , and progerin makes the nucleus
unstable , that cellular instability leads to the process
of premature aging and disease in progeria.
ā¢ Thereisafarnesylfunctionalgroupattachedto thecarboxyl-
terminusofits structurewhichallowsprelamin A toattach
temporarilytothe nuclearrim andwhenit attached,thefarnesyl
groupisremoved. Failure toremovethisfarnesylgroup
permanentlyaffixestheproteintothe nuclearrim. Withoutits
farnesylgroup,prelamin A is referredto aslamin A.LaminA,
alongwith laminandlamin C, makesup thenuclearlamina,
which providesstructuralsupporttothe nucleus.
5.
6. ā¢ thereis noknowncure forProgeria.
ā¢ the child usuallyjust takesmedication togetridof
orslowdownthe symptoms ofprogeria.
ā¢ Mosttreatmentfocuses onreducingcomplication
such as (cardiovascular disease).
ā¢ The use ofMorpholinoshas alsobeen attempted
inordertoreduce progerinproduction.
ā¢ Anti-cancerdrug,rapamycin,causedremovalof
progerinfrom thenuclearmembrane through
autophagy.
ā¢ Growthhormonetreatment hasbeen attempted.
Treatment