This document summarizes a presentation on rare, uncommon, and common diseases. The presentation discusses the definitions and statistics around rare diseases, provides examples like Maple Syrup Urine Disease, and explores the challenges of diagnosing and treating rare diseases. It also explains the differences between rare, uncommon and common diseases, noting that rare diseases occur in less than 1 in 20,000 people in the Philippines. The presentation aims to empower laypeople to better understand these disease classifications and manage their own healthcare.
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
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
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
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
Patient information to complete the Soap Note. See attachment .docxssuser562afc1
Patient information to complete the Soap Note. See attachment
Family Medicine 12: 16-year-old female with vaginal bleeding and UCG
User:
Beatriz Duque
Email:
[email protected]
Date:
August 28, 2020 8:38PM
Learning Objectives
The student should be able to:
Describe the essential features of a preconception consultation, including how to incorporate this content into any visit.
Discuss chlamydia screening.
Demonstrate the use of the HEEADSS adolescent-interviewing technique.
Recognize pregnancy: intrauterine, ectopic, and miscarriage.
Discuss options during an unplanned pregnancy.
Select initial prenatal labs.
Counsel a pregnant patient for healthy behavior, folic acid supplementation, and immunizations.
Outline normal progression of symptoms and physical exam findings during pregnancy.
Demonstrate the management of a miscarriage, including the medical and social follow-up.
Knowledge
Chlamydia: Epidemiology, Course of Disease, and Screening Recommendations
Epidemiology
Chlamydial infection is the most common sexually transmitted bacterial infection in the United States. In 2007, more than 1.1 million chlamydia cases were reported to the CDC. It is thought that another million cases of chlamydia remain unreported.
Course of disease
Chlamydia is often insidious and asymptomatic. In women, genital chlamydial infection may result in urethritis, cervicitis, pelvic inflammatory disease (PID), infertility, ectopic pregnancy, and chronic pelvic pain. Chlamydial infection during pregnancy is related to adverse pregnancy outcomes, including miscarriage, premature rupture of membranes, preterm labor, low birth weight, and infant mortality.
Screening recommendations
The USPSTF found fair evidence that nucleic acid amplification tests (NAATs) can identify chlamydial infection in asymptomatic men and women, including asymptomatic pregnant women, with high test specificity. In low prevalence populations, however, a positive test is more likely to be a false positive than a true positive, even with the most accurate tests available.
Qualities of a Good Screening Test
1. The condition should be an important health problem and the condition screened for must have a high prevalence in the population.
2. There should be a latent stage of the disease.
3. There should also be effective treatment for the condition being screened.
4. Facilities for diagnosis and treatment should be available.
5. There should be a test or examination for the condition.
6. The test should be acceptable to the population and the total cost of finding a case should be economically balanced in relation to medical expenditure as a whole. The potential benefits of early detection and treatment of a condition need to be weighed against many factors, including adverse side effects of the screening test, time and effort required (of both the patient and the health care system) to take the test, financial cost of the test, potential psychological and phys.
Global Medical Cures™ | Epilepsy
DISCLAIMER-
Global Medical Cures™ does not offer any medical advice, diagnosis, treatment or recommendations. Only your healthcare provider/physician can offer you information and recommendations for you to decide about your healthcare choices.
Prevention against micronutrient malnutritionHealthXn
Micronutrident disorders are common and a major cause of morbidity in all populations. In this presentation we discuss the importance of iodine, folic acid and vitamin D deficiency. Prevention is the solution
Patient information to complete the Soap Note. See attachment .docxssuser562afc1
Patient information to complete the Soap Note. See attachment
Family Medicine 12: 16-year-old female with vaginal bleeding and UCG
User:
Beatriz Duque
Email:
[email protected]
Date:
August 28, 2020 8:38PM
Learning Objectives
The student should be able to:
Describe the essential features of a preconception consultation, including how to incorporate this content into any visit.
Discuss chlamydia screening.
Demonstrate the use of the HEEADSS adolescent-interviewing technique.
Recognize pregnancy: intrauterine, ectopic, and miscarriage.
Discuss options during an unplanned pregnancy.
Select initial prenatal labs.
Counsel a pregnant patient for healthy behavior, folic acid supplementation, and immunizations.
Outline normal progression of symptoms and physical exam findings during pregnancy.
Demonstrate the management of a miscarriage, including the medical and social follow-up.
Knowledge
Chlamydia: Epidemiology, Course of Disease, and Screening Recommendations
Epidemiology
Chlamydial infection is the most common sexually transmitted bacterial infection in the United States. In 2007, more than 1.1 million chlamydia cases were reported to the CDC. It is thought that another million cases of chlamydia remain unreported.
Course of disease
Chlamydia is often insidious and asymptomatic. In women, genital chlamydial infection may result in urethritis, cervicitis, pelvic inflammatory disease (PID), infertility, ectopic pregnancy, and chronic pelvic pain. Chlamydial infection during pregnancy is related to adverse pregnancy outcomes, including miscarriage, premature rupture of membranes, preterm labor, low birth weight, and infant mortality.
Screening recommendations
The USPSTF found fair evidence that nucleic acid amplification tests (NAATs) can identify chlamydial infection in asymptomatic men and women, including asymptomatic pregnant women, with high test specificity. In low prevalence populations, however, a positive test is more likely to be a false positive than a true positive, even with the most accurate tests available.
Qualities of a Good Screening Test
1. The condition should be an important health problem and the condition screened for must have a high prevalence in the population.
2. There should be a latent stage of the disease.
3. There should also be effective treatment for the condition being screened.
4. Facilities for diagnosis and treatment should be available.
5. There should be a test or examination for the condition.
6. The test should be acceptable to the population and the total cost of finding a case should be economically balanced in relation to medical expenditure as a whole. The potential benefits of early detection and treatment of a condition need to be weighed against many factors, including adverse side effects of the screening test, time and effort required (of both the patient and the health care system) to take the test, financial cost of the test, potential psychological and phys.
Global Medical Cures™ | Epilepsy
DISCLAIMER-
Global Medical Cures™ does not offer any medical advice, diagnosis, treatment or recommendations. Only your healthcare provider/physician can offer you information and recommendations for you to decide about your healthcare choices.
Prevention against micronutrient malnutritionHealthXn
Micronutrident disorders are common and a major cause of morbidity in all populations. In this presentation we discuss the importance of iodine, folic acid and vitamin D deficiency. Prevention is the solution
Similar to ROJoson PEP Talk: Rare, Uncommon and Common Diseases (20)
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
CDSCO and Phamacovigilance {Regulatory body in India}NEHA GUPTA
The Central Drugs Standard Control Organization (CDSCO) is India's national regulatory body for pharmaceuticals and medical devices. Operating under the Directorate General of Health Services, Ministry of Health & Family Welfare, Government of India, the CDSCO is responsible for approving new drugs, conducting clinical trials, setting standards for drugs, controlling the quality of imported drugs, and coordinating the activities of State Drug Control Organizations by providing expert advice.
Pharmacovigilance, on the other hand, is the science and activities related to the detection, assessment, understanding, and prevention of adverse effects or any other drug-related problems. The primary aim of pharmacovigilance is to ensure the safety and efficacy of medicines, thereby protecting public health.
In India, pharmacovigilance activities are monitored by the Pharmacovigilance Programme of India (PvPI), which works closely with CDSCO to collect, analyze, and act upon data regarding adverse drug reactions (ADRs). Together, they play a critical role in ensuring that the benefits of drugs outweigh their risks, maintaining high standards of patient safety, and promoting the rational use of medicines.
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 Drug Discovery and Development .....NEHA GUPTA
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.
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The Gram stain is a fundamental technique in microbiology used to classify bacteria based on their cell wall structure. It provides a quick and simple method to distinguish between Gram-positive and Gram-negative bacteria, which have different susceptibilities to antibiotics
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.
Adv. biopharm. APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMSAkankshaAshtankar
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ADVANCED BIOPHARMACEUTICS & PHARMACOKINETICS : UNIT 5
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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
ROJoson PEP Talk: Rare, Uncommon and Common Diseases
1. Rare,
Uncommon,
and Common
Diseases
March 04, 2023
1400H - 1500H
Via Zoom
Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
2. ROJoson PEP Talk
I have a Patient
Empowerment
Program in which I
like to empower the
lay people or
patients to take
control in the
management of
their health.
Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
Rare,
Uncommon,
and Common
Diseases
3. I started the PEP Talk
on May 15, 2021.
There are 3 courses
in the PEP Talk.
I completed the Core
Course on October 9,
2021.
4. From October 23,
2021 onwards, I have
been tackling Health
Disorder and Health
Issue Courses. This
may take 3 years or
longer depending on
our enthusiasm and
perseverance.
5. My PEP TALK today is
entitled:
Rare, Uncommon,
and Common
Diseases
In consonance with
DOH Health
Awareness Calendar
- National Rare
Disease Week (Feb)
Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
Rare,
Uncommon,
and Common
Diseases
6. Republic Act 10747
Last week of February has
been declared in the
Philippines as the National
Rare Disease Week (NRDW)
following RA 10747 of 2016.
Rare,
Uncommon,
and Common
Diseases
7. Republic Act 10747
"Rare Diseases Act of the Philippines"
It is the State policy to protect and promote the
right to health of the people, including the right
of persons suffering from rare diseases to survival
and full and healthy development as individuals
through access to timely health information and
adequate medical care.
The Republic Act 10747 aims to institutionalize
the care and welfare of Filipinos with rare
diseases.
Rare,
Uncommon,
and Common
Diseases
8. Contents of PEP Talk:
- What is a RARE DISEASE?
- What are examples of RARE DISEASES?
- What are the usual causes of RARE DISEASES?
- What are the challenges of RARE DISEASES?
- When to suspect RARE DISEASES in children?
- What are the differences among rare,
uncommon and common diseases?
- What is the usefulness of knowing the
differences of rare, uncommon and common
diseases?
- What are the challenges in rare, uncommon
and common diseases?
Rare,
Uncommon,
and Common
Diseases
9. - What is a RARE DISEASE?
Republic Act 10747 defines rare diseases as
disorders such as inherited metabolic disorders
and other diseases with similar rare occurrence as
recognized by the Department of Health (DOH)
upon recommendation of the National Institutes
of Health (NIH) but excluding catastrophic (i.e.,
life threatening, seriously debilitating, or serious
and chronic) forms of more frequently occurring
diseases.
Rare,
Uncommon,
and Common
Diseases
10. - What is a RARE DISEASE?
RARE OCCURRENCE
Definitions of rare occurrence of diseases vary
from countries to countries. Examples:
US = 1 in 1,500 population
Europe = 1 in 2,000
Japan = 1 in 4,000
Taiwan = 1 in 10,000
Philippines = 1 in 20,000
These statistics have to
be monitored through a
national registry.
PH –
RARE DISEASE REGISTRY
(NIH-DOH)
Rare,
Uncommon,
and Common
Diseases
11. - What is a RARE DISEASE?
Global and Philippine Statistics
Globally
• 10% to 15% of individuals worldwide are
roughly estimated to be affected by rare
disease
• 5,000-8,000 rare diseases are thought to exist,
with approximately 250 new diseases being
described on an annual basis.
• WHO has a list of more than 500 rare diseases
in its ICD coding.
WHO Statistics –
prevalence of 0.65 to 1%
Rare,
Uncommon,
and Common
Diseases
12. - What is a RARE DISEASE?
Global and Philippine Statistics
Philippines
Philippines as of 2022 has now a list of 159 rare
diseases being facilitated by the Rare Disease
Registry.
The number will increase as time goes by and as
new rare diseases are discovered and
documented.
As of 2021, there are
887 cases registered
with rare diseases.
(inclusive of those
who have died)
Rare,
Uncommon,
and Common
Diseases
13. - What are examples of RARE DISEASES?
Examples of rare, orphan disorders:
Pompe Disease
Gaucher Disease
Maple Syrup Urine Disease (MSUD)
Fabry Disease
Mucopolysaccharidosis (MPS).
In the Philippines, the maple syrup urine disease
is quoted to be the most commonly seen Rare
Disease.
Down syndrome is
not part of the list
of rare diseases as it
occurs in 1 in 800
population.
Rare,
Uncommon,
and Common
Diseases
14. - What are examples of RARE DISEASES? The patient’s body and urine
smell like maple syrup. It is a
genetic and metabolic
problem, and is the most
common rare disease in the
Philippines, affecting one in
40,000 people. Maple Syrup
Urine is not fatal when
detected at an early age
(when a baby is still days
old), but it is a lifelong
condition that needs a
special diet with protein
intake carefully calculated.
Rare,
Uncommon,
and Common
Diseases
15. - What are examples of RARE DISEASES?
Rare,
Uncommon,
and Common
Diseases
16. - What are examples of RARE DISEASES?
Rare,
Uncommon,
and Common
Diseases
Examples of RARE DISEASES not categorized as
genetically inherited metabolic disorders:
• Auto-immune diseases
• Rare congenital birth defects
• Rate tumor / benign and malignant
Any disease that occurs in 1:20,000 population
whether with genetic background or not is a
RARE DISEASE.
17. - What are the usual causes of RARE DISEASES?
Majority of RARE DISEASES in the Philippines and
globally are due to genetic origin (particularly
inherited metabolic disorders) – quoted at 70 to
80%.
Majority affect the children – quoted at 50% to
70%.
About 30% of patients with rare diseases are
dying before age 5.
Rare,
Uncommon,
and Common
Diseases
18. - What are the challenges of RARE DISEASES?
Because of limited information available, it is
common for rare diseases to be misdiagnosed in
its early stages.
Trying to diagnose them entails a lot of medical
consultations and procedures leading to a lot of
medical expenses. (very costly to manage)
Rare diseases are
tough to diagnose
because most
doctors don't see
them (often) – not
familiar.
Rare,
Uncommon,
and Common
Diseases
19. - What are the challenges of RARE DISEASES?
Also, the characteristics of a rare illness usually
include the following:
They are often chronic, progressive,
degenerative, and life-threatening.
They have a high level of pain and suffering for
patients and their family.
They are disabling while compromising a
patient’s quality of life due to the lack or loss
of autonomy.
Rare,
Uncommon,
and Common
Diseases
20. - What are the challenges of RARE DISEASES?
Rare Diseases Difficult to Diagnose, Cures
Hard to Come By
Patients with rare diseases often face a
long journey from diagnosis to treatment.
Rare,
Uncommon,
and Common
Diseases
21. - What are the challenges of RARE DISEASES?
Filipinos born with rare diseases are “orphaned”
by society.
They suffer from social abandonment because of
lack of existing network of support to aid them.
Medical help is elusive under the conditions of
the country’s health priority. The nature of their
illness is hardly known due to lack of information
and only a few medical professionals, particularly
in the country, are aware of these disorders and
know how to diagnose and address these
conditions.
Rare Diseases
=
Orphan Diseases
Rare,
Uncommon,
and Common
Diseases
22. - What are the challenges of RARE DISEASES?
How do you identify rare diseases?
In recent years, gene panels, microarrays, and
exome sequencing have helped to identify the
molecular cause of such rare and undiagnosed
diseases. These technologies have allowed
diagnoses for a sizable proportion (25–35%) of
undiagnosed patients, often with actionable
findings.
GENETIC TESTING
Rare,
Uncommon,
and Common
Diseases
23. - What are the challenges of RARE DISEASES?
Newborn Screening (NBS) and Rare Disease
NBS is one method for screening and detection.
NBS is aimed at the early detection of infants with
genetic, metabolic, and infectious conditions.
Newborn Screening Act of 2004 or RA 9288
Rare,
Uncommon,
and Common
Diseases
24. - What are the challenges of RARE DISEASES?
Persons with rare disease shall be considered as
persons with disabilities (PWDs), in accordance
with Republic Act No. 7277, as amended, or the
Magna Carta for Disabled Persons.
There are PhilHealth packages for Rare Diseases.
Rare,
Uncommon,
and Common
Diseases
25. - What are the challenges of RARE DISEASES?
Newborn screening program in the Philippines
currently includes screening of six disorders:
Congenital Hypothyroidism (CH), Congenital
Adrenal Hyperplasia (CAH), Phenylketonuria
(PKU), Galactosemia (GAL), Glucose-6-Phosphate
Dehydrogenase (G6PD) Deficiency and Maple
Syrup Urine Disease (MSUD).
Rare,
Uncommon,
and Common
Diseases
26. - What are the challenges of RARE DISEASES?
EC. 6. Referral of Patients with Rare Disease. —
Patients highly suspected of, or diagnosed with,
rare disease shall be referred to a newborn
screening continuity clinic identified by the DOH
as referral centers for treatment of rare diseases
under the National Comprehensive Newborn
Screening System.
Rare,
Uncommon,
and Common
Diseases
27. A
- When to suspect RARE DISEASES in children?
Suspect RARE DISEASE in children (especially
newborn up to toddler years up to preschooler)
when there is something UNUSUAL in the physical
and mental health.
Have the children check right away by a
pediatrician.
Rare,
Uncommon,
and Common
Diseases
28.
29. If there is such a thing as RARE DISEASES, then
there must be COMMON and UNCOMMON
DISEASES.
If RARE DISEASE in the Philippines is defined as a
frequency of 1 in 20,000 population or less,
then it follows that a disease, whose frequency is
more common than 1 in less than 20,000, say 1 in
10,000 or 1 in 5,000, is NOT considered RARE
DISEASE anymore.
It may be common or uncommon.
At the moment, there is no cut-off frequency for
common or uncommon diseases.
Common diseases
are those that occur
in large numbers.
Uncommon and rare
diseases are those
that occur in smaller
numbers.
One has just to
tabulate the
frequencies to
determine the
answers.
Rare,
Uncommon,
and Common
Diseases
30. • What is the usefulness of knowing the
differences among rare, uncommon, and
common diseases?
Rare,
Uncommon,
and Common
Diseases
Helps in the clinical diagnostic process.
• For example, if the symptoms and signs have
the same pattern for 2 or 3 diseases, the
primary suspect should be one that is most or
more common rather the less or least
common.
31. • What is the usefulness of knowing the
differences among rare, uncommon, and
common diseases?
Rare,
Uncommon,
and Common
Diseases
Helps in the public health management.
• For example, prioritizing health programs for
the more common diseases, rather than rare
diseases, especially if there is resource
constraint.
32. - What are the challenges in rare, uncommon
and common diseases?
Rare,
Uncommon,
and Common
Diseases
Rare and uncommon diseases:
• May be difficult to recognize and diagnose
(may undergo a lot of consults and tests before
the diagnosis is established).
• May be difficult to treat.
• May entail more costs in medical management.
Common diseases:
• May be difficult to decrease the burden of the
diseases in the community.
33. Contents of PEP Talk:
- What is a RARE DISEASE?
- What are examples of RARE DISEASES?
- What are the usual causes of RARE DISEASES?
- What are the challenges of RARE DISEASES?
- When to suspect RARE DISEASES in children?
- What are the differences among rare,
uncommon and common diseases?
- What is the usefulness of knowing the
differences of rare, uncommon and common
diseases?
- What are the challenges in rare, uncommon
and common diseases?
Rare,
Uncommon,
and Common
Diseases
Summary
Take Away
34. Take Away in
relation to
Patient
Empowerment
Be always in touch with reliable medical
information on RARE, UNCOMMON and
COMMON medical diseases.
Knowledge is power; it gives power.
Use the 4Ks of Patient Empowerment:
Kaalaman, Kakayanan, Karapatan and
Kapangyarihan
to gain greater control over decisions in
cases of RARE, UNCOMMON and
COMMON medical diseases.
Rare,
Uncommon,
and Common
Diseases
35. Empowerment
objective - for
laypeople to have a
basic understanding
of the concepts of
RARE, UNCOMMON
and COMMON
diseases and how to
apply them in their
health management.
Rare,
Uncommon,
and Common
Diseases