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
Obstetrical Ultrasound• Introduced in the late 1950’s ultrasonography is a safe, non- invasive, accurate and cost-effective means to investigate the fetus• Computer generated system that uses sound waves integrated through real time scanners placed in contact with a gel medium to the maternal abdomen• The information from different reflections are reconstructed to provide a continuous picture of the moving fetus on the monitor screen
Module 3In this module, you will continue to explore specific hi.docxgilpinleeanna
Module 3
In this module, you will continue to explore specific high-incidence exceptionalities, including those related to behavior, emotions, communication, intellect, and autism spectrum disorders.
Complete the following readings early in the module:
· Human exceptionality: School, community, and family (10th ed.), read the following chapters:
· Emotional/behavioral disorders
· Communication disorders
· Intellectual and developmental disabilities
· Autism spectrum disorders
· Handel, A. (Producer), & Puchniak, T. (Director). (2001). Is love enough? [Documentary]. United States: Filmakers Library. Retrieved from http://flon.alexanderstreet.com.libproxy.edmc.edu/view/1641316/play/true/
· Ravindran, N., & Myers, B. J. (2012). Cultural influences on perceptions of health, illness, and disability: A review and focus on autism. Journal of Child & Family Studies, 21(2), 311–319. doi: 10.1007/s10826-011-9477-9. (EBSCO AN: 73325870)
http://libproxy.edmc.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=pbh&AN=73325870&site=ehost-live
As our focus for this module is the specific dynamics between peer groups and the development of children, pay special attention to the assigned readings that deal with the topics listed below. You can even use the search feature in your digital textbook to help pinpoint specific text sections to review.
Keywords to search in your digital textbook and journal articles: strength-based assessment, behavior intervention plan, oppositional defiant disorder, conduct disorder, social maladjustment, adaptive behavior, chromosomal abnormalities, metabolic disorder expressive language, receptive language, Asperger syndrome or Asperger disorder, and stereotypic behavior.
Module 3 learning resources
Use Module 3 learning resources provided on the pages that follow to enhance your understanding of high-incidence disabilities. Take a moment to check out some of these featured learning resources:
· Exceptional Children: This self-assessment activity presents a scenario of Serafina, an exceptional child, and provides you the opportunity of identifying the exceptionalities presented and suggesting an intervention.
· Ethical Considerations: This self-assessment activity presents a scenario of Andrea, an exceptional child, and provides you the opportunity of identifying the ethical considerations that should be taken in this case.
Module Topics:
· High-Incidence Disabilities
· Emotional Disorders
· Behavioral Disorders
· Communication Disorders
· Intellectual Disorders
· Autism Spectrum Disorders
Learning outcomes:
· Describe and discuss the continuum of exceptional development, including identification of exceptionalities and individual strengths.
· Apply current, peer-reviewed research on environmental, biological, and cognitive influences on development to design systemic support and/or intervention plans for home, school, and transition for children with exceptionalities.
· Evaluate cultural, ethical, and legal ...
MANDALA COLORING FOR CHILDREN WITH SYMPTOMS OF ATTENTION DEFICIT HYPERACTIVIT...indexPub
Attention Deficit Hyperactivity condition (ADHD) is the most common neuropsychiatric condition of childhood. Inattention, Hyperactivity, and impulsivity are the 3 major signs of ADHD. Various therapies and techniques are well-established for children with ADHD disorder. However, there is a sizable subset of some signs of ADHD in children that do not fulfill the diagnostic standards. To adjacent this gap, psychologists have adopted various forms of art therapy to attain good results. Mandala coloring is a relatively new art-based intervention that can be used on children at risk of ADHD. However, literature is lacking on the usefulness of mandala coloring intervention on such at-risk children. Here we present a series of three children with ADHD symptoms in whom mandala coloring intervention was used. There were significant improvements in executive functioning after 30 sessions, indicating enhanced cognitive skills. There was also a moderate improvement in emotional and motivational self-regulation. At follow- up, parents reported improvement in academic performance and were able to concentrate on one activity for a longer duration. Keywords: Art Therapy, Mandala Coloring, ADHD Symptoms, Executive Functioning, Attention Span.
This slide is part of a collection of exam revision slides from Atypical Child Development. The slides have been created by me, and based on several different research papers. The slides were created for essay exam.
This project reports on how new research on ADHD meets service and systems oriented design. Master project from the Oslo School of Architecture and Design, 2013
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
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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.
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
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
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These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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.
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
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
Title: Sense of Taste
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 structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?
Down syndrome presentation
1. Behavioral Patterns of Children with Down SyndromeStudent :EuridikiDamoulianou Instructor : Barbara Kondilis Course : Developmental Psychology 1 Winter 2011
68. discussion Our hypothesis was not proven !! The children in our observational study seemed to interact with each other, be happy, calm and not display aggressiveness or any other problematic behavior. Nine out of the ten subjects had a moderate mental retardation so we cannot estimate or predict how children with higher mental retardation would behave. We conducted our study in a natural setting BUT we still do not know how these children would interact with or behave in their homes or in other settings apart from school.
69.
70. Our study has a limited external validity (sample of 10 individuals) & we do not know if our results can be applied to all children with Down syndrome.
75. Thanks… Thank you ladies !!! And please …. Do to not forget to show support to people who really need it like the children with Down syndrome !!!
76. References Dykens, E. M. (2007). Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Developmental Disabilities, 13, 272- 278. Guralnick, M. J. (2002). Involvement with peers: Comparisons between young children with and without Down’s syndrome. Journal of Intellectual Disability Research, 45(5), 379- 393. Iarocci, G., Reebye, P., & Virji-Babul, N. (2006). The learn at play program (LAPP): Merging family, developmental research, early intervention, and policy goals for children with Down syndrome. Journalof Policy and Practice in Intellectual Disabilities, 3(1), 11-21. Leshin, L. (2003). Trisomy 21: The story of Down syndrome. Retrieved February 25, 2011 from http://www.ds-health.com. Medline Plus. (2011). Down syndrome. Retrieved February 25, 2011from http://www.nlm.nih.gov/medlineplus/downsyndrome.html. Medicine Net. (2011). What are the characteristic features and symptoms of Down syndrome? Retrieved February 25, 2011 from http://www.medicinenet.com/down_syndrome/page3.htm.
77. References National Down Syndrome Society. (2011).What causes Down syndrome. Retrieved February 25, 2011 from http://www.ndss.org/index.php?option=com_content&view=article&id=60:what-causes-ds&catid=35: about-down-syndrome. National Health System. (2011). Symptoms of Down’s syndrome. Retrieved February 25, 2011from http://www.nhs.uk/Conditions/Downssyndrome/Pages/Symptoms.aspx Vicari, S. (2006). Motor development and neuropsychological patterns in persons with Down syndrome. Behavior Genetics, 36(3), (doi: 10. 1037/a0021109). http://www.youtube.com/watch?v=OXXl05wIJ7E http://www.youtube.com/watch?v=dWe-lZslQUg http://www.youtube.com/watch?v=c_52evvWw1w
