This document provides guidelines for the basic medical surveillance of cardiac disease for people with Down syndrome. It recommends screening all newborns with Down syndrome for congenital heart defects through clinical examination and echocardiogram. It emphasizes the importance of early detection of heart defects like atrioventricular septal defects to allow for corrective surgery before irreversible damage occurs. It also notes the need for ongoing monitoring throughout life due to risks of later developing heart conditions.
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
Congenital Adrenal Hyperplasia (CAH)
For 5th Year Medical Students and Endocrinology Modules and Master and MD Degree Internal Medicine and Endocrinology
By Dr Usama Ragab Youssif
References: Oxford Handbook of Endocrinology & Diabetes
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
Congenital Adrenal Hyperplasia (CAH)
For 5th Year Medical Students and Endocrinology Modules and Master and MD Degree Internal Medicine and Endocrinology
By Dr Usama Ragab Youssif
References: Oxford Handbook of Endocrinology & Diabetes
For many parents, this question of what is Down syndrome is asked to understand the basics. This presentation gives the real parents the non medical jargon answers. Read more about what is Down syndrome at http://specialfamiliescoach.com/what-is-down-syndrome-for-real-parents/ or read more about parenting children with special needs at http://specialfamiliescoach.com/
Parents who have just gave birth or will give birth to a baby with Down syndrome are looking for answers. There are probably more questions than there are answers. Hopefully this presentation will give you the basic understanding to what is Down syndrome.
The presentation talks about a few key topics in the world of Down syndrome. It talks about Down syndrome facts, symptoms of Down syndrome, and what causes Down syndrome?
You can also watch a video to parents who are asking the question what causes Down syndrome?
https://www.youtube.com/watch?feature=player_embedded&v=Vhc0r7UQxj4
Find out more information from reliable resources:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://ghr.nlm.nih.gov/condition/down-syndrome
http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
The Down Syndrome Association of South Texas - Adult Matters! ProgramDouglas Grant (Teacher)
Longtime teacher Douglas (Doug) Grant spent years teaching history at the middle school level. Since concluding his career as a teacher, Douglas Grant has begun working in the field of mental health. He also supports charitable organizations including the Down Syndrome Association of South Texas (DSASTX).
Down Syndrome Cognition Research 101: An Introductionplus15campaign
An introduction to topics in Down syndrome cognition research, including current initiatives DSRTF supports and clinical trials now underway. Presenters: DSRTF board member Sarah Wernikoff; DSRTF Chief Scientific Officer Dr. Michael Harpold; and Roche Pharmaceuticals' Dr. Omar Khwaja.
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
Chromosomal Disorder or genetic disorder.pptxayeshaqueen8600
A chromosomal disorder is a genetic disorder that occurs when there is a change in the number or structure of an individual's chromosomes. Chromosomes are the thread-like structures that carry our genes, and changes in them can affect various aspects of our physical and mental development.
There are several types of chromosomal disorders, including:
1. Aneuploidy (e.g., Down syndrome, Turner syndrome): Having an abnormal number of chromosomes (either extra or missing).
2. Structural chromosomal abnormalities (e.g., deletions, duplications, translocations): Changes in the structure of individual chromosomes.
3. Mosaicism: A mix of cells with different chromosomal makeup.
Examples of chromosomal disorders include:
- Down syndrome (trisomy 21)
- Turner syndrome (45,X)
- Klinefelter syndrome (47,XXY)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
These disorders can cause a range of physical and intellectual disabilities, and often require medical attention and support.
Down Syndrome
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Down Syndrome
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Basic Intravenous Therapy 4: Total Parenteral NutritionRonald Magbitang
Lecture Presentation in Basic Intravenous Therapy Seminar regards anothe type of IV fluid the TPN, nutrition in this regard given intravenously, how to go about, the considerations and precautions in giving TPN
Basic Intravenous Therapy 3: Fluids And Electrolytes, Balance and Imbalance, ...Ronald Magbitang
Lecture Presentation in Basic Intravenous Therapy Seminar, discussion on Body Fluids and Electrolytes, Normal Values and the Imbalances, the symptomatology and treatment and precautions, and, finally the different types of commonly available, utilized IVF in clinics
Lecture Presentation in Basic Intravenous Therapy Seminar talks on Basic Pharmacology, the pharmacodynamics and pharmacokinetics, the common IV medications used, precautions and interactions of medications
Lecture presentation in Basic IV Therapy, discussion on the common IV access sites, indications, contraindications and precautions of the respective sites
discussion on Health Economics and Health Care in our country and abroad, and what resources are given by the private sectors and with the very scarce help from the DOH, national and local government, and from the support given by WHO.
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
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
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
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
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
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.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
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.
- 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
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±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 N0—N12, 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 N0—N12 (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.
24. Screening for: alpha feto protein; estriol, human chorionic gonadotropin; PAPPA; inhibin-alpha Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associate plasma protein A, Mendelian Inheritance in Man (OMIM) 176385 ). * NIH has confirmed that this first trimester test is more accurate than second trimester screening methods 5% 91% 10–13.5 Nuchal translucency/free beta/PAPPA screen This test measures the alpha feto protein , produced by the fetus, and free beta hCG , produced by the placenta. 2.8% 80% 13–22 AFP/free beta screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and high inhibin -Alpha (INHA) 7.5% 79% 15–20 Quad screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). 8.5% 75% 15–20 Triple screen Description False positive rate Detection rate When performed (weeks gestation) Screen Common first and second trimester Down syndrome screens
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27. BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group)
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50. What are some of the most common heart defects and how are they treated?