The document summarizes discussions from an international conference on inherited disorders of muco-ciliary clearance including Primary Ciliary Dyskinesia (PCD). It outlines the goals of the PCD Support Group and PCD Foundation to support patients, raise awareness, advocate for research and treatments, and establish clinical trials. Key challenges discussed are improving diagnosis standards, addressing misconceptions about PCD, developing treatment guidelines, and exploring PCD in the context of other ciliopathies/genetic disorders.
Key Issues to Tackle to Build a Brighter Future for PCD Patients and CaregiversPCD Foundation
Identifies key challenges to overcome that will help people with primary ciliary dyskinesia (PCD) and other ciliopathies get the resources needed to improve the understanding of the disease, raise awareness about it, provide adequate and accessible treatments for it, improve diagnosis worldwide and ultimately greatly enhance the quality of life (and life span) of those affected by PCD.
Presentation at PHABC Public Health Reducing Health Inequities Conference, Vancouver, British Columbia, Canada.
Also see several additional slideshares of mine about males and eating disorders and an excerpt from Global National TV 16x9 news documentary, Canadian national television.
Brief excerpt (2.5 minutes) here: https://www.youtube.com/watch?v=ctlGqM0ekOY
Full 23 mins show here: https://www.youtube.com/watch?v=OwhyB8mR-U8
Key Issues to Tackle to Build a Brighter Future for PCD Patients and CaregiversPCD Foundation
Identifies key challenges to overcome that will help people with primary ciliary dyskinesia (PCD) and other ciliopathies get the resources needed to improve the understanding of the disease, raise awareness about it, provide adequate and accessible treatments for it, improve diagnosis worldwide and ultimately greatly enhance the quality of life (and life span) of those affected by PCD.
Presentation at PHABC Public Health Reducing Health Inequities Conference, Vancouver, British Columbia, Canada.
Also see several additional slideshares of mine about males and eating disorders and an excerpt from Global National TV 16x9 news documentary, Canadian national television.
Brief excerpt (2.5 minutes) here: https://www.youtube.com/watch?v=ctlGqM0ekOY
Full 23 mins show here: https://www.youtube.com/watch?v=OwhyB8mR-U8
Don't miss our upcoming webinars! Subscribe today!
In this webinar:
Join Alies, a patient partner, and Ambreen, a patient-oriented researcher, as they explore ways to listen and learn from seldom heard patient populations. Both speakers share their experiences in the world of patient engagement, discuss the need to include patient-identified priorities in the delivery of healthcare and reflect on the current structure of patient partnerships which can be exclusionary. As a way forward, Alies and Ambreen introduce Equity-Mobilizing Partnerships in Community (EMPaCT) as an approach which strives to centre diverse patient voices, create a culture of listening and learning from the experiences of patient partners and develop a learning healthcare system ecosystem which is responsive to the needs of all patients in order to improve health outcomes, in particular health equity.
View the YouTube video: https://youtu.be/Yx762mVjML8
Follow CCSN on social media:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Instagram: https://www.instagram.com/survivornet_ca/
Pinterest - https://www.pinterest.com/survivornetwork
Meeting the Unmet Needs of People Affected by Brain Tumours. By Dr Danette Langbecker, Research Fellow,
Institute of Health & Biomedical Innovation, Queensland University of Technology.
Informed Consent for the Treatment of Adolescents and Young Adults with CancerMethodist HealthcareSA
Author: Conrad Fernandez, MD., IWK Health Centre, Halifax, NS
Presented at the 2010 Texas Adolescent and Young Adult Oncology Conference hosted by Methodist Healthcare-San Antonio in October 2010
Rosemary Frasso's presentation from the
Penn Urban Doctoral Symposium
May 13, 2011
Co-sponsored with Penn’s Urban Studies program, this symposium celebrates the work of graduating urban-focused doctoral candidates. Graduates present and discuss their dissertation findings. Luncheon attended by the students, their families and their committees follows.
June 1, 2018
Historically and across societies people with disabilities have been stigmatized and excluded from social opportunities on a variety of culturally specific grounds. These justifications include assertions that people with disabilities are biologically defective, less than capable, costly, suffering, or fundamentally inappropriate for social inclusion. Rethinking the idea of disability so as to detach being disabled from inescapable disadvantage has been considered a key to twenty-first century reconstruction of how disablement is best understood.
Such ‘destigmatizing’ has prompted hot contestation about disability. Bioethicists in the ‘destigmatizing’ camp have lined up to present non-normative accounts, ranging from modest to audacious, that characterize disablement as “mere difference” or in other neutral terms. The arguments for their approach range from applications of standards for epistemic justice to insights provided by evolutionary biology. Conversely, other bioethicists vehemently reject such non-normative or “mere difference” accounts, arguing instead for a “bad difference” stance. “Bad difference” proponents contend that our strongest intuitions make us weigh disability negatively. Furthermore, they warn, destigmatizing disability could be dangerous because social support for medical programs that prevent or cure disability is predicated on disability’s being a condition that it is rational to avoid. Construing disability as normatively neutral thus could undermine the premises for resource support, access priorities, and cultural mores on which the practice of medicine depends.
The “mere difference” vs. “bad difference” debate can have serious implications for legal and policy treatment of disability, and shape strategies for allocating and accessing health care. For example, the framing of disability impacts the implementation of the Americans with Disabilities Act, Section 1557 of the Affordable Care Act, and other legal tools designed to address discrimination. The characterization of disability also has health care allocation and accessibility ramifications, such as the treatment of preexisting condition preclusions in health insurance. The aim of this conference was to construct a twenty-first century conception of disablement that resolves the tension about whether being disabled is merely neutral or must be bad, examines and articulates the clinical, philosophical, and practical implications of that determination, and attempts to integrate these conclusions into medical and legal practices.
Learn more: http://petrieflom.law.harvard.edu/events/details/2018-petrie-flom-center-annual-conference
Disability and health kenya union of clinical officers presentation at the ...Emmanuel Mosoti Machani
A presentation by the Secretary General of the Kenya Union of Clinical Offciers of disabilty and health at the 3rd Health Sector Development Partner Forum.
Sexual and Intimate Needs of Adolescents and Young Adults with Cancer: A Qual...Methodist HealthcareSA
Sexual and Intimate Needs of Adolescents and Young Adults with Cancer: A Quality of Life Issue
Author: Sage Bolte, PhD, LCSW., Life With Cancer, Fairfax, VA
Presented to the 2010 Texas Adolescent and Young Adult Oncology Conference hosted by Methodist Healthcare-San Antonio in October 2010
Don't miss our upcoming webinars! Subscribe today!
In this webinar:
Join Alies, a patient partner, and Ambreen, a patient-oriented researcher, as they explore ways to listen and learn from seldom heard patient populations. Both speakers share their experiences in the world of patient engagement, discuss the need to include patient-identified priorities in the delivery of healthcare and reflect on the current structure of patient partnerships which can be exclusionary. As a way forward, Alies and Ambreen introduce Equity-Mobilizing Partnerships in Community (EMPaCT) as an approach which strives to centre diverse patient voices, create a culture of listening and learning from the experiences of patient partners and develop a learning healthcare system ecosystem which is responsive to the needs of all patients in order to improve health outcomes, in particular health equity.
View the YouTube video: https://youtu.be/Yx762mVjML8
Follow CCSN on social media:
Twitter - https://twitter.com/survivornetca
Facebook - https://www.facebook.com/CanadianSurvivorNet
Instagram: https://www.instagram.com/survivornet_ca/
Pinterest - https://www.pinterest.com/survivornetwork
Meeting the Unmet Needs of People Affected by Brain Tumours. By Dr Danette Langbecker, Research Fellow,
Institute of Health & Biomedical Innovation, Queensland University of Technology.
Informed Consent for the Treatment of Adolescents and Young Adults with CancerMethodist HealthcareSA
Author: Conrad Fernandez, MD., IWK Health Centre, Halifax, NS
Presented at the 2010 Texas Adolescent and Young Adult Oncology Conference hosted by Methodist Healthcare-San Antonio in October 2010
Rosemary Frasso's presentation from the
Penn Urban Doctoral Symposium
May 13, 2011
Co-sponsored with Penn’s Urban Studies program, this symposium celebrates the work of graduating urban-focused doctoral candidates. Graduates present and discuss their dissertation findings. Luncheon attended by the students, their families and their committees follows.
June 1, 2018
Historically and across societies people with disabilities have been stigmatized and excluded from social opportunities on a variety of culturally specific grounds. These justifications include assertions that people with disabilities are biologically defective, less than capable, costly, suffering, or fundamentally inappropriate for social inclusion. Rethinking the idea of disability so as to detach being disabled from inescapable disadvantage has been considered a key to twenty-first century reconstruction of how disablement is best understood.
Such ‘destigmatizing’ has prompted hot contestation about disability. Bioethicists in the ‘destigmatizing’ camp have lined up to present non-normative accounts, ranging from modest to audacious, that characterize disablement as “mere difference” or in other neutral terms. The arguments for their approach range from applications of standards for epistemic justice to insights provided by evolutionary biology. Conversely, other bioethicists vehemently reject such non-normative or “mere difference” accounts, arguing instead for a “bad difference” stance. “Bad difference” proponents contend that our strongest intuitions make us weigh disability negatively. Furthermore, they warn, destigmatizing disability could be dangerous because social support for medical programs that prevent or cure disability is predicated on disability’s being a condition that it is rational to avoid. Construing disability as normatively neutral thus could undermine the premises for resource support, access priorities, and cultural mores on which the practice of medicine depends.
The “mere difference” vs. “bad difference” debate can have serious implications for legal and policy treatment of disability, and shape strategies for allocating and accessing health care. For example, the framing of disability impacts the implementation of the Americans with Disabilities Act, Section 1557 of the Affordable Care Act, and other legal tools designed to address discrimination. The characterization of disability also has health care allocation and accessibility ramifications, such as the treatment of preexisting condition preclusions in health insurance. The aim of this conference was to construct a twenty-first century conception of disablement that resolves the tension about whether being disabled is merely neutral or must be bad, examines and articulates the clinical, philosophical, and practical implications of that determination, and attempts to integrate these conclusions into medical and legal practices.
Learn more: http://petrieflom.law.harvard.edu/events/details/2018-petrie-flom-center-annual-conference
Disability and health kenya union of clinical officers presentation at the ...Emmanuel Mosoti Machani
A presentation by the Secretary General of the Kenya Union of Clinical Offciers of disabilty and health at the 3rd Health Sector Development Partner Forum.
Sexual and Intimate Needs of Adolescents and Young Adults with Cancer: A Qual...Methodist HealthcareSA
Sexual and Intimate Needs of Adolescents and Young Adults with Cancer: A Quality of Life Issue
Author: Sage Bolte, PhD, LCSW., Life With Cancer, Fairfax, VA
Presented to the 2010 Texas Adolescent and Young Adult Oncology Conference hosted by Methodist Healthcare-San Antonio in October 2010
Fibrous Dysplasia and McCune-Albright Syndromecurefdmas
Outline a thought process that can be employed by governing,
academic and commercial institutes in setting policy and
research guidelines towards finding cure for rare diseases. @curefdmas @nih @RareDiseases #nord #raredisease #fdmas
A presentation given by Prof. David Croaker & Eunice Gribben at the CHA Cofnerence in October 2012, The Journey, in the 'innovations in supporting chronically unwell children, young people and their families' stream.
Report launch: The invisible epidemic – Rethinking the detection and treatmen...ILC- UK
Report launch: The invisible epidemic – Rethinking the detection and treatment of structural heart disease in Europe, supported by Edwards Lifesciences.
Jim Warren
National Institute for Health Innovation (NIHI)
The University of Auckland
The presentation was accompanied by this video:
http://www.youtube.com/watch?v=jbvmGqmIxXY
Information and support for patients on MKI treatmentMarika Porrey
Information and support for patients on MKI treatment - guidance for physicians and patient organizations by Dr Fabian Pitoia
Encargado de la Sección Tiroides
División Endocrinología - Hospital de Clínicas
Universidad de Buenos Aires
The opportunity and waste of human potential: Managing the mental health of t...Studiosity.com
At Studiosity's "Students First 2019" Symposium:
The renowned youth mental health advocate, Australian of the Year, and this year's keynote, Professor Pat McGorry, addressed the critical need for early intervention for tertiary students.
This year's Studiosity 'Students First' Symposium was hosted at La Trobe University City Campus, 25 and 26 July 2019.
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
Adv. biopharm. APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMSAkankshaAshtankar
MIP 201T & MPH 202T
ADVANCED BIOPHARMACEUTICS & PHARMACOKINETICS : UNIT 5
APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMS By - AKANKSHA ASHTANKAR
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.
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
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
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the 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 lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
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. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
263778731218 Abortion Clinic /Pills In Harare ,ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group of receptionists, nurses, and physicians have worked together as a teamof receptionists, nurses, and physicians have worked together as a team wwww.lisywomensclinic.co.za/
Key Issues to Tackle to Build a Brighter Future for PCD Patients and Caregivers
1. PCD Support GroupInternational Conference on Inherited Disorders of Muco-Ciliary Clearance Primary Ciliary Dyskinesia Kartagener Syndrome Immotile Cilia Syndrome
2. Value of a Patient Group & a Global Coalition Support & Awareness Identify and support each other Establish a source of credible information for patients and caregivers Work with researchers, healthcare providers and other organizations to improve the lives of people with PCD and associated disorders Raise awareness among patients, healthcare professionals and the general public Advocacy Connecting with governmental / elected officials Advocate for access to treatments / research funding Research Help establish research priorities Provide a centralized, validated “pool” of patients interested in participating in research Funding Maximize potential and impact of dollars donated
3. PCD Foundation (PCDF) Mission Statement To promote research, increase public awareness, and provide information and support services for individuals with inherited ciliary disorders and their caregivers.
5. PCDF Membership & Communications Where we are today: Mailing list: 836 patients (self-identified) & family members Contacts: 2057 including patients, family members, friends, vendors, physicians, researchers, etc. Method: Email, social networking, other electronic means Membership: No official requirements or dues Where we want to go: A patient registry Based on actual diagnosis (not self-reported) Automated vs. today’s manual data entry Expanded mailing list & contacts Increased frequency of communication
6. PCDF Meetings 1 Annual Scheduled Meeting: Annual Family Event Usually 2 days in the summer Open to patients, family members, medical professionals & others interested in PCD Speakers are experts in PCD who interact with families Strong focus on education, but we have fun, too This year: 15-16 July in Atlanta, GA. You are welcome!! Ad hoc regional events (opportunistic) Future Meeting Goals Regional Education & Support Events Scientific Meetings: Had 1 in St. Louis Online Meetings & Teleconferences
7. Areas that Need Attention: Diagnosis PCD is frequently missed in those who do have it Ciliary biopsy ‘gold standard,’ but often poorly done High misdiagnosis (@30%) skew statistics & precludes PCD from clinical trials critical for treatment/cure research & dev Solution? A genetic test. For now? Unmask the Faces of PCD!
8. Areas that Need Attention: Misconceptions Fiction PCD is a mild, non-progressive disorder Consequences of PCD only affect older patients It is impossible to confirm the diagnosis of PCD Treatments already exist: They are the same as for cystic fibrosis (CF) PCD is incredibly rare and only affects a few thousand people Situs inversus is a benign condition ‘Normal’ life expectancy Fact Progressive disorder that can result in serious lung disease Infants can have severe lung disease; Neonatal mortality Centers of excellence, etc. can accurately diagnose PCD and CF are different genetic disorders. No PCD research to date. PCD is poorly understood and under-reported (Est. 400K WW) Not necessarily; Leads to delayed diagnosis Initial data indicates otherwise* What we need: Documentation of basic statistics to dispel these myths *See Appendix
9. Areas that Need Attention: Treatment Guidelines Creation & Use of Treatment Guidelines for PCD (in US) Standard of care varies dramatically from site to site Like diagnosis, treatment is driven by private insurance Reports of adults with no sputum or lung function tests No published guidelines = insufficient / no insurance coverage Unused guidelines = no benefit of published guidelines Access to Appropriate Care ‘Off-label’ drug use becoming a bigger problem TOBI (US$4,800/mo) & Cayston (US$5,200/mo) Average 3 calls/wk on this issue alone Adults with PCD have trouble finding pulmonologists familiar with disorders like PCD, CF and bronchiectasis Many adult CF pulmonary clinics will not see PCD patients
10. Goal: Accelerate development of/access to better therapies & cures How: Establish ‘Path to Clinical Trials’ to encourage pharmas to (co-) sponsor trials Why: Typical multi-center drug trials cost between US$2-40M What: Two key components include: Centers of Excellence* Provide diagnosis & treatment Center in every major city or at least in each state in the US *9 current sites: Participate in the GDMCC**, a clinical research network focusing on the PCD, CF, pseudohypoaldosteronism and other conditions related to mucociliary clearance A Registry Clinical, medical records-based database Ideally global, clinic-based, but may need to start with something regional, patient-driven Centers of Excellence to be conduit for PCD registry PCDF Proposed Solutions: Path to Clinical Trials **Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)
11. Beyond PCD: PCD in the Larger Context Where we are today: Many patients do not understand value of current research efforts Results/purpose not clear Limited communication and collaboration between motile and non-motile ciliary researchers Researchers focus on their specific diseases Little perspective and joint effort at related to the grouping of the ciliary diseases We are missing opportunities to collectively understand the building blocks of diseases where cilia play a key role - and interplay b/t them Where we want to be: Immediate: Outline research in progress & where it ‘fits’ (i.e. goals for outcome, ultimate application - basic info vs. quality of life) Ideal: In a position to define & rollout a research roadmap based on shared priorities to study ciliary function & structure Joint efforts could push research forward faster and solve more problems for more people
12. PCD is a Ciliopathy: What’s That? A newly discovered class of diverse human genetic diseases arising from defects of ciliary function and/or structure *US Estimates
13. Brain Respiratory Reproductive Tract MOTILE (9+2) Embryo (Nodal cilium) MOTILE (9+0) “CILIUM” “Primary” (sensory) NON-MOTILE (9+0) Kidney tubule Bile duct Pancreatic duct Bone Cartilage Eye (Photoreceptor) *Fliegauf, 2007, Nat Rev Mol Cell Biol Ciliopathies Affect Many Organ Systems
14. ‘Ciliopathies’ Make PCD Important to More People Chronic obstructive pulmonary disease (COPD) 3rd leading cause of death in US* Affects 24M (US only), 12M diagnosed** Chronic bronchitis, emphysema, bronchiectasis Polycystic kidney disease (PKD) One of the most common life-threatening genetic diseases Affects over 600K (US only), 12.5M (Global) Fluid-filled cysts develop in the kidneys *Centers for Disease Control and Prevention (CDC), 2010; **COPD Foundation Heart Defects Congenital defects Heterotaxy Processes Related to Cilia Function: Onconogenesis & formation of tumors and cysts Skeletal & connective tissue formation Obesity Diabetes Why? They provide a way to better understand: Help for PCD could mean help for COPD, PKD and many other diseases
15. Summary & Next Steps Together, we can address these initiatives - and create a brighter future for PCD patients today & tomorrow . . .
16.
17.
18.
19. 3.3% OtherRecent survey* on kidney disease in PCD patients & relatives *Very small sample size (only 33 respondents) and self-reported. Not meant to have scientific merit, but curious about potential to further investigate
20.
21. 45.6 years (not including infants)*Very small sample size and self-reported. Not meant to have scientific merit, but curious about potential to further investigate
Editor's Notes
We may have a bigger challenge in the US because of how our health system is set up (have to go where private insurance tells them to go). I know in the UK there are 3 sites and everyone is filtered there. Up to 30% are misdiagnosed based; It is missed even with neonatal respiratory distress.There are currently no accepted standards for processing or analyzing biopsy slides. In the US, there are hundreds of labs that attempt to do this, each using their own standards. It is inefficient, costly and sloppy. The rate of misdiagnosis in the US bears this out. We believe that a comprehensive genetic test is the only solution to this problem, especially given the recent discoveries of PCD genes that have no ultrastructural correlate (have PCD, but no way to tell it - no damage or change to cilia even through they have it). Cilia look fine, move fine, but they have disease (situs, etc.). As an organization we support current efforts at gene identification and development of more comprehensive genetic assay and this is one of our funding priorities as a foundation, should we ever be in a position to help fund research.It is very difficult to move forward with clinical trials
Good place to add patient experiences like Lori’s and yours (and many, many others)! Babies and adults are dying because of the dismissiveness of the disease
There are no published guidelines in the US. We talk to adults who have never had a sputum or lung function test and they have advanced lung disease. They have been told they had asthma and don’t bother to do these tests.In areas where private insurance is the standard = problems with getting access to care.Insurance companies are looking for ways to do cost shifting and one of those ways is eliminating. Here for the treatment of pseudomonas -2 approved drugs. TOBI is $4,800/month, Cayston is $5,200/month. Gentamycin is supposed to a lower cost. IV drugs - have preservatives and not meant to go into lungs. Smaller molecules and no preservatives. They do give it as an inhaler. needs to be reformulated to be approved here. They will do it and add cost so it will be as costly as the others. Financial implications: $5K/month; 2 or 3 kids it is impossible; using oral antibiotic and getting inadequate care. Michele Manion is working with her Senator to address these issues, but it is an uphill battle. The only solution is legislative - have to come up with a way to protect patients despite what the FDA and insurance companies want. In CA, there was a case . Because they aren’t approved drugs, the pharma programs because don’t want to take on the liability. Average battle 3 times/week.
Here’s our proposed solution. Discussed with the CF Foundation. Need to accomplish these goals by establishing a PTCT . . . ; need to collect data, be global, come from clinics, but may need to start . . . ; would like it to support a bio-specimen repositoryModel suggested to us by CF Foundation. Could work in whole or part internationally (i.e. could collaborate on the registry issue, if not centers of excellence which already exist in the UK, Germany, Canada and other non-US countries.) A typical multi-center drug trial, which is the ‘gold standard’ for proving the effectiveness of new therapies, costs between $2 million and $40 million dollars. Very few patient advocacy groups have the financial wherewithal to cover these costs, so the goal is to encourage the pharma industry to sponsor or co-sponsor drug trials. Before investing millions of dollars, however, pharma companies want a patient population to be:Well-characterizedCorrectly diagnosed Of sufficient numbers to provide credible dataEasily recruited and eager to participate in studiesThe Path to Clinical Trials Program (PTCT) provides a framework for the PCD community to overcome some of our obstacles while satisfying the requirements of clinical trial sponsors. The goal is to accelerate access to clinical trials and the development of better therapies/cures for patients with PCD. There are two major components to the PTCT program: 1.) A clinical, medical records-based patient registry and 2.) A network of clinical centers for the diagnosis and treatment of PCD. The registry will provide long-term, reliable data on:Natural history of PCDBasic demographic features of the illness, such as: Average age at diagnosis Life expectancy Acquisition of bronchiectasis Prevalence of Pseudomonas/NTM infectionsDisease progressionImpact of various interventionsAssociated conditionsRegistry data will give pharma companies a working knowledge of the PCD community that can help in identifying gaps in current standard treatments and potential targets for therapy. Additionally, entry into the registry will be done by qualified centers so registry participants will represent a reliably diagnosed and easily accessible patient body for recruitment into trials. To facilitate patient entrance into the registry, PCD centers of excellence for diagnosis and treatment will be established, based on the CF Center model with integrated care from a number of specialists. These centers will use standard operating procedures for diagnosis, as established by the PCDF in collaboration with our medical advisors, and will agree to guidelines for treatment and data collection per the registry protocol. These centers will serve as referral clinics for PCD patients throughout North America and will actively participate with the PCDF in providing patient care, data collection and recruitment for clinical trials. The Genetic Disorders Of Mucociliary Clearance Consortium is a network of nine North American Centers that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Additionally, GDMCC studies target related clinical conditions believed to be due to impaired mucociliary clearance including idiopathic bronchiectasis and infection with non-tuberculous mycobacterial (NTM) organisms. Ultimately, we hope to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments.Lead site: University of North Carolina at Chapel Hill (UNC)Participating sites: * Washington University in St. Louis (Missouri) * University of Washington (Seattle, Washington) * University of Colorado, Denver Children's Hospital (Denver, Colorado) * The Hospital for Sick Children (Toronto, Ontario, Canada) * Stanford University (Palo Alto, California) * National Institute for Allergy and Infectious Diseases (Bethesda, MD) * St. Michael's Hospital (Toronto, Ontario, Canada) * National Jewish Health (Denver, Colorado)
Very small sample size (only 33 respondents) and self-reported. Done just out of curiosity—not meant to have scientific merit.
Very small sample size and self-reported. Done just out of curiosity—not meant to have scientific merit.