Chapter 1-3 Flashcards
In the US, a disease is considered rare when
affects fewer than 200,000
Patients with rare diseases comprise 1 out of every _______ Americans and _________ of the European Union (EU) population.
10; 6% to 8%
Approximately 80% of rare diseases may have or be caused by which factor?
Genetic changes
Which of the following are key characteristics of rare diseases? (Select all that apply.)
A. They are characterized by consistent signs and symptoms that are common among most rare diseases.
B. They are characterized by relatively common symptoms that can hide underlying rare diseases leading to misdiagnosis and delayed treatment.
C. They are often chronic, progressive, degenerative, and life-threatening.
D. They often have a definitive cure.
B. They are characterized by relatively common symptoms that can hide underlying rare diseases leading to misdiagnosis and delayed treatment.
C. They are often chronic, progressive, degenerative, and life-threatening.
Which of the following is NOT a common challenge of rare diseases?
A. Inequities and difficulties in accessing treatment and care
B. Substantial economic impact for patients and their families
C. Overwhelming volume of scientific data about the disease
D. Delayed diagnosis and/or misdiagnosis
C. Overwhelming volume of scientific data about the disease
Challenges to managing rare diseases include which of the following? (Select all that apply.)
A. Treatments are often not available
B. Treatments may be costly
C. Lack of clinical guidelines for most rare diseases
D. Few prescribers are knowledgeable about or comfortable with managing therapies for rare diseases
All
Incentives for the development of treatments for rare disease introduced in the 1983 Orphan Drug Act (ODA) include which of the following? (Select all that apply.)
A. Seven years of market exclusivity for an approved orphan drug
B. Patent protection for an approved orphan drug formulation for 30 years
C. Tax credits of up to 50% for certain clinical testing expenses for companies whose product obtains an orphan drug designation from the US Food and Drug Administration (FDA)
D. Exemption from Phase 2/3 pivotal clinical testing requirements due to the few numbers of eligible patients
A. Seven years of market exclusivity for an approved orphan drug
C. Tax credits of up to 50% for certain clinical testing expenses for companies whose product obtains an orphan drug designation from the US Food and Drug Administration (FDA)
The European Union was the first region in the world to pass orphan drug regulations and incentives.
False
Which of the following statements best describes the goals of Therapeutics for Rare and Neglected Diseases (TRND) program?
A. Create an integrated research pipeline to help encourage and accelerate the development of new treatments for rare and neglected disorders
B. Develop interdependent healthcare networks to help aid patients get access to healthcare providers with expertise in rare and neglected disorders
C. Create a consortium of pharmaceutical and biotech companies to assist patients with the cost of orphan drugs for the treatment of rare and neglected disorders
D. Develop continuing medical education (CME) for healthcare providers to increase awareness of rare and neglected disorders and their treatment
A. Create an integrated research pipeline to help encourage and accelerate the development of new treatments for rare and neglected disorders
Typically, diseases are considered “neglected” because __________.
although they may inflict severe health burdens in developing countries, they are not seen as a public health priority in more industrialized countries
When is Rare Disease Day® held each year?
Last day in February
Which of the following is a patient advocacy group “dedicated to individuals with rare diseases and the organizations that serve them”?
A. Therapeutics for Rare and Neglected Diseases (TRND)
B. National Organization for Rare Disorders (NORD)
C. American Autoimmune & Related Diseases Association, Inc. (AARDA)
D. Global Rare Disease Project (GRDP)
B. National Organization for Rare Disorders (NORD)
Common characteristics of rare diseases
Key characteristics of rare diseases include:
• a wide diversity of signs and symptoms that vary not only from disease to disease but also from patient to patient
• not limited to a particular organ group or specialty area, age, or patient demographic
• characterized by relatively common symptoms
• often chronic, progressive, degenerative, and life-threatening
• can be disabling; quality of life of patients is often compromised by lack or loss of autonomy
• potentially painful, causing suffering for the patient and their family
• are frequently without a known cure
Define rare disease
is any disease that affects a small percentage of the population. In the United States, a disease or disorder is defined as rare when it affects fewer than 200,000 people in the country at any given time. In Europe, a disease or disorder is defined as rare when it affects fewer than 1 in 2,000 people.
Common challenges of patients with rare disease
Challenges of rare diseases include:
• barriers to diagnosis, such as the fact that relatively common symptoms can hide underlying rare diseases, can lead to misdiagnosis and/or a delay in diagnosis, and therefore, delayed treatment or lack of appropriate treatment (if available)
• the scarcity of available treatments for rare disease
• limited scientific understanding of the disease
• lack of quality information about the disease for patients and their families
• heavy social consequences for patients and their families
• substantial economic impact for patients and their families
• inadequate healthcare
• inequities and difficulties in accessing treatment and care
Common challenges of healthcare providers
healthcare provider’s unawareness of rare diseases and their inability to provide optimal care
• treatments not available, or when available, may be costly
• insurance or other access barriers to obtaining treatment
• lack of clinical guidelines for vast majority of rare diseases
Incentives of the Orphan Drug Act (1983)
7 years of market exclusivity for an approved orphan drug and tax credits of up to 50% for certain clinical testing expenses for companies whose product obtains an orphan drug designation from the US Food and Drug Administration (FDA).
Identify diseases that can directly or indirectly impact the lungs causing ILD
- Idiopathic pulmonary fibrosis (IPF)
- Systemic sclerosis (SSc)
- Polymyositis (PM) and dermatomyositis (DM)
- Mixed connective tissue disease (MCTD)
- Hypersensitivity pneumonitis (HP)
- Asbestosis
Which of the following statements best describes the primary function of the respiratory system?
A. Obtains CO2 for the body and removes O2 from the body
B. Regulates acid base balance in the blood
C. Obtains O2 for the body and removes CO2 from the body
D. Filters unwanted physical and chemical substances
Obtains O2 for the body and removes CO2 from the body
All of the following are functions of the respiratory system except:
A. Participates in sense of taste
B. Produces vocal sounds
C. Aids in controlling temperature and moisture of incoming air
D. Contributes to immune defenses
Participates in sense of taste
Nostril
2 openings that are externally visible in the nose
Nasal cavity
Hollow space located behind the nose
Paranasal sinuses
Air-filled spaces within bones of the skull
Pharynx
Funnel-shaped structure that connects nasal cavity with larynx
Larynx
Enlargement in airway before lower respiratory tract
Which of the following are components of the conducting zone? A. Terminal Bronchioles B. Trachea C. Alveoli D. Pulmonary capillaries
A. Terminal Bronchioles
B. Trachea
Which of the following structures is the site of gas exchange between inhaled air and the bloodstream? A. Terminal bronchiole B. Mediastinum C. Alveolus D. Pleural cavity
Alveolus
Which of the following cell types creates the extracellular matrix of the interstitial space between alveoli and pulmonary capillaries? A. Macrophages B. Type 1 alveolar epithelial cells C. Type 2 alveolar epithelial cells D. Interstitial fibroblasts
Interstitial fibroblasts
Which of the following statements about inspiration are true? (Select all that apply.)
A. The diaphragm and intercostal muscles relax.
B. The pressure within the lungs is lower than that of the atmospheric air pressure.
C. The rib cage moves outwards.
D. The pressure within the lungs is higher than that of the atmospheric air pressure
B. The pressure within the lungs is lower than that of the atmospheric air pressure.
C. The rib cage moves outwards.
Inspiratory capacity (IC)
Total, or maximal, volume of air that can be inhaled after a normal tidal volume expiration (= TV + IRV)
Functional residual capacity (FRC)
Volume of air remaining in the lungs after a normal tidal volume expiration (= ERV + RV)
Vital capacity (VC)
Total, or maximal, volume of air that can be exhaled after a maximum inspiratory effort (= TV + IRV + ERV)
Total lung capacity (TLC)
Total, or maximal, volume of air contained in the lungs after a maximum inspiratory effort (= TV + IRV + ERV + RV
During external respiration, \_\_\_\_\_\_ enters and \_\_\_\_\_\_\_ leaves the blood in the lungs by the process of \_\_\_\_\_\_\_\_\_\_\_: A. CO2; O2; ; perfusion B. CO2; O2,; osmosis C. O2; CO2; gas exchange D. O2; CO2; diffusion
O2; CO2; diffusion
Which of the following mechanisms may occur under conditions of poor ventilation (low O2 and high CO2 levels in the alveoli)? (Select all that apply.)
A. Bronchioles dilate to encourage CO2 elimination
B. Bronchioles constrict to diminish CO2 elimination
C. Arterioles constrict to reduce blood flow
D. Arterioles dilate to enhance blood flow
A. Bronchioles dilate to encourage CO2 elimination
C. Arterioles constrict to reduce blood flow
The primary function of the respiratory system is to
obtain oxygen (O2) for, and remove carbon dioxide (CO2) from, the body.
Other functions of the respiratory system include:
- removes particles from incoming air
- helps to control the temperature and moisture of incoming air
- produces vocal sounds
- participates in the sense of smell
- participates in the regulation of blood pH
- contributes to immune defenses
The lower respiratory tract includes
the trachea (windpipe), bronchial tree, and lungs
the conducting zone: consists of
respiratory passageways that convey air from the upper airway to the structures that participate in gas exchange with the blood and include the following structures:
• trachea
• bronchial tree (bronchi, bronchioles, terminal bronchioles)
The respiratory zone consists of
microscopic structures beyond the conducting zone airways that carry out the actual gas exchange with the blood and includes the following structures within the bronchial tree:
• respiratory bronchioles
• alveolar ducts
• alveolar sacs
alveoli
site of gas exchange between the inhaled air and the bloodstream; thin alveolar walls are composed of various cell types that include:
– type I alveolar epithelial cells: form a thin, patchwork-like surface that covers the alveolus and is responsible for maintenance of lung water content
– type II alveolar epithelial cells: produce and secrete pulmonary surfactant
interstitial space:
area between the alveolar spaces and the capillaries within the lungs; facilitates close contact between the air within the alveoli and capillaries and contains:
– basement membrane of the alveoli
– extracellular matrix fibers: includes collagen and elastin, which are produced by interstitial fibroblast cells and function as a connective tissue matrix that holds alveolar structures in place
– basement membrane of pulmonary capillaries
pulmonary capillaries:
cover the external surfaces of the alveoli; thin capillary wall is composed of a single layer of endothelial cells across which gas exchange occurs
The respiratory membrane is comprised of
the alveolar epithelial wall, the capillary endothelial wall, and the interstitial space across which gas exchange between the alveolar air and pulmonary capillary blood occurs
compliance of the lungs
a measure of the lung’s ability to stretch and expand
diffusion
in which O2 passes, or diffuses, from the alveolus into the blood and CO2 diffuses from the blood to the alveolus.
respiratory volumes
tidal volume (TV)
• inspiratory reserve volume (IRV)
• expiratory reserve volume (ERV)
• residual volume (RV)
Spirometry
a test that measures air volumes and flow rates, is used clinically to measure all respiratory volumes except residual volume.
respiratory capacities,
- inspiratory capacity (IC)
- functional residual capacity (FRC)
- vital capacity (VC)
- total lung capacity (TLC)
