Sas Exam 3 Flashcards
(293 cards)
1
Q
Who is Henry Waxman?
A
U.S. Representative who drafted and sponsored the Orphan Drug Act (ODA) in 1983, which provided incentives for pharmaceutical companies to develop treatments for rare diseases.
The ODA has led to the development of over 600 orphan drugs since its passage, significantly impacting the treatment of rare diseases.
2
Q
What role did Jack Klugman play in relation to rare diseases?
A
Actor who played Dr. Quincy, a medical examiner who advocated for patients with rare diseases in the TV show Quincy, M.E. Klugman testified before Congress, helping to pass the Orphan Drug Act.
His advocacy raised awareness about rare diseases and the need for research and treatment.
3
Q
Who was Mary Mallon?
A
First identified asymptomatic carrier of Salmonella Typhi, responsible for multiple typhoid fever outbreaks in early 20th century New York.
Her case highlighted the concept of asymptomatic carriers and led to public health measures for quarantine and isolation.
4
Q
What is the significance of Orville and Wilbur Wright?
A
Pioneers of aviation; Wilbur Wright died of typhoid fever in 1912.
Their story underscores the prevalence of typhoid fever in the early 20th century.
5
Q
What prompted the founding of Stanford University?
A
Leland Stanford Jr. died of typhoid fever at age 15, prompting his parents to found Stanford University in his memory.
Their story highlights the impact of typhoid fever on families and society.
6
Q
Who discovered Salmonella Typhi?
A
Karl Joseph Eberth discovered Salmonella Typhi in 1880, identifying the bacterium responsible for typhoid fever.
His discovery was crucial for understanding and diagnosing typhoid fever.
7
Q
George Soper
A
Sanitation engineer who identified Mary Mallon as a typhoid carrier and published his findings in 1907.
His work led to the concept of ‘healthy carriers’ and public health interventions.
8
Q
Sara Josephine Baker’s
A
Assistant commissioner of health in New York who played a role in managing Mary Mallon’s case.
Her work highlighted the challenges of balancing public health and individual rights.
9
Q
Ernst Lederle
A
Health commissioner who released Mary Mallon from quarantine in 1910, under the condition she would not work as a cook.
His decision led to Mallon’s eventual re-arrest after she violated the terms of her release.
10
Q
How did Princess Diana contribute to HIV/AIDS awareness?
A
Advocated for the destigmatization of HIV/AIDS by publicly shaking hands with patients without gloves.
Her actions helped reduce stigma and discrimination against people with HIV/AIDS.
11
Q
What was President Barack Obama’s contribution to Ebola awareness?
A
Met with nurse Nina Pham, who survived Ebola, to show support and reduce stigma around the disease.
His actions helped combat fear and misinformation about Ebola.
12
Q
Who is Nina Pham?
A
Nurse who contracted Ebola while caring for a patient in the U.S. and survived.
Her case highlighted the risks healthcare workers face and the importance of proper protective measures.
13
Q
What is Daniel Danielsen known for?
A
Known as the ‘father of leprology,’ he believed leprosy was hereditary.
His work laid the foundation for understanding Hansen’s disease (leprosy).
14
Q
What did Gerhard Henrik Armauer Hansen discover?
A
Identified Mycobacterium leprae as the cause of leprosy in 1873, the first bacterium linked to a human disease.
His discovery revolutionized the understanding and treatment of leprosy.
15
Q
Who was Stanley Stein?
A
Patient at Carville leprosarium who edited The Star, a newsletter advocating for the rights of leprosy patients.
His work helped reduce stigma and improve conditions for leprosy patients.
16
Q
Guy Henry Faget
A
Developed Promin, the first effective treatment for leprosy, at Carville in the 1940s.
His work marked a turning point in leprosy treatment.
17
Q
Who is Peter Buxtun?
A
Whistleblower who exposed the unethical Tuskegee Syphilis Study in 1972.
His actions led to the end of the study and major reforms in human research ethics.
18
Q
What did Jean Heller do?
A
Reporter who broke the story of the Tuskegee Syphilis Study in 1972.
Her reporting brought national attention to the study’s ethical violations.
19
Q
What was President William J. Clinton’s action regarding the Tuskegee Syphilis Study?
A
Issued a formal apology in 1997 for the Tuskegee Syphilis Study.
His apology acknowledged the government’s role in the unethical study.
20
Q
Linus Pauling
A
Discovered the molecular basis of sickle-cell disease, showing it was caused by a mutation in hemoglobin.
His work was foundational in molecular medicine.
21
Q
Who was Lady Mary Wortley Montagu?
A
Introduced variolation (early smallpox inoculation) to Europe in the 18th century.
Her advocacy helped lay the groundwork for modern vaccination.
22
Q
What did Cotton Mather promote?
A
Promoted variolation in the American colonies after learning about it from Onesimus, an enslaved African man.
His efforts helped reduce smallpox mortality in the colonies.
23
Q
Who was Onesimus?
A
Enslaved African man who introduced Cotton Mather to the practice of variolation.
His knowledge helped save lives during smallpox outbreaks.
24
Q
What did Edward Jenner develop?
A
Developed the first smallpox vaccine using cowpox in 1796.
His work led to the eventual eradication of smallpox.
25
Who was James Phipps?
First person to be vaccinated against smallpox by Edward Jenner.
## Footnote
His case proved the effectiveness of vaccination.
26
What was Sarah Nelms' contribution to vaccination?
Milkmaid whose cowpox lesions were used by Edward Jenner to develop the smallpox vaccine.
## Footnote
Her case was crucial in the development of vaccination.
27
What did President Franklin Delano Roosevelt found?
Founded the National Foundation for Infantile Paralysis (March of Dimes) to combat polio.
## Footnote
His efforts led to the development of the polio vaccine.
28
What did Jonas Salk develop?
Developed the inactivated polio vaccine (IPV) in 1955. (The one to reduce paralysis)
## Footnote
His vaccine was instrumental in reducing polio cases worldwide.
29
What was Albert Sabin's contribution
Developed the oral polio vaccine (OPV) in 1961.
## Footnote
His vaccine was easier to administer and helped in global polio eradication efforts.
30
Who co-discovered Yersinia pestis
Alexandre Yersin and Kitasato Shibasabura co-discovered Yersinia pestis, the bacterium that causes plague.
## Footnote
His discovery was crucial for understanding and controlling plague outbreaks.
31
What was President Woodrow Wilson's response to the 1918 influenza pandemic?
His administration faced the 1918 influenza pandemic.
## Footnote
His leadership during the pandemic highlighted the importance of public health measures.
32
What defines a rare disease?
A disease affecting fewer than 200,000 people in the U.S. or fewer than 1 in 2,000 in the EU.
## Footnote
Rare diseases collectively affect millions, with 80% having a genetic origin and 50% affecting children.
33
What does the National Organization for Rare Disorders (NORD) do?
Advocates for patients with rare diseases and supports research and treatment development.
## Footnote
Played a key role in passing the Orphan Drug Act.
34
What was established by the Rare Diseases Act of 2002?
Established the Office of Rare Diseases at the NIH and increased funding for rare disease research.
## Footnote
Enhanced research and treatment options for rare diseases.
35
What is the Rare Diseases Clinical Research Network (RDCRN)?
Supports clinical studies and collaboration on rare diseases.
## Footnote
Facilitates research and data sharing among scientists and patient advocacy groups.
36
What does the Rare Diseases Registry Program (RaDaR) provide?
Provides guidance on setting up and maintaining registries for rare diseases.
## Footnote
Helps standardize data collection and promote research.
37
What is the purpose of the Genetic and Rare Diseases Information Center (GARD)?
Provides information and resources on rare diseases for patients and caregivers.
## Footnote
Helps patients navigate diagnosis, treatment, and support.
38
What is Rare Disease Day?
Raises awareness about rare diseases and their impact on patients.
## Footnote
Celebrated on February 28 (or 29 in leap years), it promotes solidarity and advocacy.
39
What is the difference between quarantine and isolation?
Quarantine restricts the movement of exposed individuals, while isolation separates sick individuals from healthy ones.
## Footnote
Used to control the spread of infectious diseases like typhoid fever and COVID-19.
40
What are Salmonella Typhi and Paratyphi?
Bacteria that cause typhoid fever, transmitted via the fecal-oral route.
## Footnote
Responsible for millions of cases and thousands of deaths annually, especially in areas with poor sanitation.
41
What are asymptomatic/healthy carriers?
Individuals who carry and spread a pathogen without showing symptoms.
## Footnote
Mary Mallon (Typhoid Mary) was a famous asymptomatic carrier of Salmonella Typhi.
42
What is the fecal-oral route of transmission?
Spread of pathogens through contaminated food or water.
## Footnote
Common in diseases like typhoid fever and cholera.
43
What is disinfection/chlorination of drinking water?
Process of killing pathogens in water to make it safe for consumption. Helped diminish typhoid fever
## Footnote
Led to a dramatic decline in typhoid fever cases in the U.S. in the early 20th century.
44
What is the significance of Mary Mallon in public health?
First identified asymptomatic carrier of Salmonella Typhi, responsible for multiple outbreaks.
## Footnote
Her case highlighted the need for public health measures to control asymptomatic carriers.
45
What is North Brother Island/Riverside Hospital?
Quarantine hospital where Mary Mallon was isolated.
## Footnote
Used to isolate individuals with contagious diseases like typhoid fever.
46
What is disease stigma?
Negative attitudes and discrimination towards individuals with a disease.
## Footnote
Stigma has been associated with diseases like leprosy, HIV/AIDS, and COVID-19.
47
What is Hansen’s Disease (Leprosy)?
Chronic bacterial infection caused by Mycobacterium leprae.
## Footnote
Historically stigmatized, but modern treatments have reduced its impact.
48
What is the leprosarium at Kalaupapa, Moloka’i, Hawaii?
Isolation colony for leprosy patients established in 1866. About 8000 people sent there, often never to leave. Colony was initially harsh, however patients made close knit community and social structure.
## Footnote
Over 8,000 patients were exiled there, highlighting the stigma and isolation associated with leprosy.
49
What is the National Leprosarium at Carville, Louisiana?
The only national leprosarium in the continental U.S., operated from 1894 to 1999.
## Footnote
Site of significant medical advancements in leprosy treatment.
50
What are guinea pigs used for in research?
Animals used in scientific experiments, particularly in studies of allergies, nutrition, and hearing.
## Footnote
Ethical concerns have led to the development of the 'Three R's' (Replacement, Reduction, Refinement) in animal research.
51
What is the placebo effect?
Improvement in a patient's condition due to their expectations rather than the treatment itself.
## Footnote
Commonly observed in clinical trials, where placebo groups show improvement despite receiving no active treatment.
52
What was the Tuskegee Syphilis Study?
Unethical study conducted by the U.S. Public Health Service from 1932 to 1972, in which Black men with syphilis were left untreated.
## Footnote
Led to major reforms in research ethics, including the Belmont Report.
53
What is heterozygote advantage?
When individuals with one copy of a mutated gene have a survival advantage.
## Footnote
Explains why genetic diseases like sickle-cell disease persist in populations (e.g., sickle-cell trait protects against malaria).
54
What is sickle-cell disease?
Genetic blood disorder caused by a mutation in the hemoglobin gene, leading to sickle-shaped red blood cells.
## Footnote
Common in populations with a history of malaria due to heterozygote advantage.
55
What was the goal of smallpox eradication?
Global effort led by the WHO to eliminate smallpox through vaccination and surveillance.
## Footnote
Smallpox was declared eradicated in 1980, the first disease to be eradicated by human effort.
56
What is the goal of polio eradication?
Global effort to eliminate polio through vaccination, led by the Global Polio Eradication Initiative (GPEI).
## Footnote
Polio cases have decreased by over 99% since 1988, with only a few countries still reporting cases.
57
What was the Black Death?
Pandemic of bubonic plague caused by Yersinia pestis in the 14th century.
## Footnote
Killed an estimated 25-50 million people in Europe, leading to significant social and economic changes.
58
What was the 1918-1920 influenza pandemic (Spanish Flu)?
Global pandemic caused by the H1N1 virus.
## Footnote
It resulted in millions of deaths worldwide and highlighted the need for public health preparedness.
59
What is the Eradication Initiative (GPEI)?
A global initiative aimed at eradicating polio.
## Footnote
Polio cases have decreased by over 99% since 1988, with only a few countries still reporting cases.
60
What was the Black Death?
A pandemic of bubonic plague caused by Yersinia pestis in the 14th century.
## Footnote
Killed an estimated 25-50 million people in Europe, leading to significant social and economic changes.
61
What was the 1918-1920 Influenza Pandemic (Spanish Flu)?
A global pandemic caused by the H1N1 influenza virus, killing an estimated 50 million people.
## Footnote
Highlighted the importance of public health measures like quarantine and social distancing.
62
What defines a rare disease in the U.S.?
A disorder or disease that affects fewer than 200,000 people.
63
What defines a rare disease in the European Union?
A disease that affects fewer than 1 in 2,000 people.
64
How many rare diseases are estimated to exist?
Approximately 10,000 rare diseases.
65
What percentage of rare diseases have a genetic origin?
Around 80% of rare diseases have a genetic origin.
66
What is the significance of the Orphan Drug Act (ODA) of 1983
Enacted to encourage pharmaceutical companies to develop treatments for rare diseases.
## Footnote
Provides incentives such as tax credits, federal research grants, and 7 years of market exclusivity for approved drugs.
67
What impact has the ODA had since its passage?
Led to the approval of over 882 drugs for rare diseases, compared to only 10 in the decade before its enactment.
## Footnote
Examples include treatments for phenylketonuria (PKU) and Huntington’s disease.
68
What role did the TV show 'Quincy M.E.' play in relation to the ODA?
Raised awareness about rare diseases and advocated for the Orphan Drug Act.
## Footnote
Actor Jack Klugman testified before Congress, helping to push for the passage of the ODA.
69
What is the Rare Diseases Act of 2002?
An act that amended the Public Health Service Act to establish an Office of Rare Diseases at the NIH.
70
What is the National Center for Advancing Translational Sciences (NCATS)?
Part of NIH, focusing on speeding up the development of treatments for rare diseases.
71
What is the Rare Diseases Clinical Research Network (RDCRN)?
A network of 20 consortia that conduct clinical research on rare diseases. These are mutli site studies, with RDCRN Consortia patient centric research
72
What does the zebra symbolize in relation to rare diseases?
Represents the idea that doctors should consider rare conditions rather than just common ones.
73
How does social media impact rare disease patients?
Connects patients, provides support, and raises awareness.
74
What is the definition of quarantine?
Separation or movement restriction of individuals exposed to a contagious disease.
75
What is the definition of isolation?
Separation of sick individuals with a contagious disease from those who are not sick.
76
Where did the practice of quarantine originate?
Italy during the 14th century Black Death pandemic. 40 days isolation
77
What authority does the U.S. federal government have regarding quarantine?
Derives authority from the Commerce Clause of the U.S. Constitution.
78
What bacteria cause typhoid fever?
Salmonella Typhi and Salmonella Paratyphi.
79
What are asymptomatic carriers?
Individuals who carry and spread a disease without showing symptoms.
80
What is the fecal-oral route of disease transmission?
Transmission of pathogens through contaminated food or water.
81
When did chlorination of drinking water begin in the U.S.?
In 1908 in Jersey City, New Jersey.
82
Who was Mary Mallon?
An asymptomatic carrier of Salmonella Typhi known as 'Typhoid Mary'.
83
What was North Brother Island used for?
Housed Riverside Hospital for quarantining individuals with contagious diseases.
84
What is disease stigma?
Negative attitudes and discrimination toward individuals with a disease.
85
What is the origin of the word stigma?
Derived from the Greek/Latin word for 'mark' or 'brand'.
86
What are the types of disease-related stigma?
Visible/Contagious, Visible/Non-Contagious, Label/Contagious, Label/Non-Contagious.
87
What efforts can combat stigma?
Education, awareness campaigns, and promoting empathy.
88
What is Mycobacterium leprae?
The bacterium that causes Hansen’s disease (leprosy).
89
What were 'lazarettes' or 'lazar houses'?
Leper colonies established in the Middle Ages to quarantine individuals with Hansen’s disease.
90
What is a leprosarium?
An institution for the isolation and care of individuals with Hansen’s disease.
91
What was Carville?
Carville was the only national leprosarium in the continental U.S., established in 1917 and operated by the U.S. Public Health Service.
92
What role did the Daughters of Charity of St. Vincent de Paul play at Carville?
They provided nursing care at Carville from 1896 to 2005, playing a crucial role in the care and treatment of patients with Hansen’s disease.
93
What unjust conditions did patients at Carville face?
Patients faced forced name changes, separation from families, and restrictions on voting and marriage, with sterilized outgoing mail and no ability to leave the reservation.
94
What positive aspects existed at Carville despite harsh conditions?
Patients formed a strong community and engaged in activities like gardening, music, and fishing, while the hospital made significant medical advancements.
95
What is Promin?
Promin was the first effective treatment for Hansen’s disease, tested at Carville in the 1940s.
96
What is Dapsone?
Dapsone became the standard treatment for Hansen’s disease in the 1950s, marking a turning point in its treatment.
97
Why have guinea pigs been used in research?
Guinea pigs have been used in research since the 17th century due to their biological similarities to humans.
98
What are the 'Three R's' in lab animal testing ethics?
The 'Three R's' are Replacement ( try to use something not animals), Reduction (use as little animals as possible), and Refinement (making test less stressful for animals)
99
What are 'professional' guinea pigs?
'Professional' guinea pigs are healthy individuals who volunteer for Phase I clinical trials to test new drugs.
100
What are Phase I clinical trials?
Phase I clinical trials are the first stage of testing new drugs in humans, focusing on safety, side effects, and dosage.
101
What is a placebo?
A placebo is an inactive substance or intervention used in clinical trials to compare effects with an active treatment.
102
What is the placebo effect?
The placebo effect occurs when patients experience improvements after receiving a placebo due to their beliefs.
103
What are the ethical guidelines for the use of placebos?
Placebos are ethical when no proven effective treatment exists but unethical when an effective treatment is available.
104
What were the Nazi medical atrocities?
Nazi doctors conducted unethical experiments on prisoners, including forced sterilizations and hypothermia experiments.
105
What was the Nuremberg Code?
The Nuremberg Code is a set of ethical principles for human experimentation established after WWII.
106
What was the Tuskegee Syphilis Study?
Conducted from 1932 to 1972, it aimed to observe untreated syphilis in African American men without informing them of their diagnosis.
107
What is the National Research Act?
Enacted in 1974, it established guidelines for ethical research involving human subjects.
108
What does the Belmont Report outline?
It outlines principles of respect for persons, beneficence, and justice in research ethics.
109
What is the impact of the Tuskegee Syphilis Study?
It led to lasting mistrust of medical institutions among African Americans and highlighted the need for ethical oversight (reforms: national research act, establishment of IRBs and the Belmont report). Later there was a class action lawsuit.
110
What is heterozygote advantage?
Heterozygote advantage refers to the survival benefit that carriers of certain genetic diseases have in specific environments.
111
What triggers a vaso-occlusive crisis in sickle cell disease?
Cause by RBC blcoking blood lfow in small blood vessels leading to lack of oxygen and pain (pain crisis)
112
What is the molecular basis of sickle-cell disease?
It is caused by a mutation in the β-globin gene, leading to abnormal hemoglobin that sickles under low oxygen.
113
What is the definition of disease eradication?
The permanent reduction to zero of the worldwide incidence of infection caused by a specific agent.
114
What is variolation?
An early method of immunization against smallpox involving exposure to material from smallpox scabs.
115
What was the first vaccine developed?
The smallpox vaccine developed by Edward Jenner in 1796 using cowpox virus.
116
What was the outcome of the smallpox eradication campaign?
Smallpox was declared eradicated in 1980 after a global vaccination campaign.
117
What are the retained smallpox virus stocks locations?
They are retained in BSL-4 facilities in the U.S. (CDC) and Russia (VECTOR).
118
What is the threat of smallpox as a bioweapon?
There are concerns about its potential use as a bioweapon, leading to vaccine stockpile and preparedness issues.
119
What are the serotypes of poliovirus?
Poliovirus has three serotypes: PV1, PV2, and PV3, transmitted via the fecal-oral route.
120
What is an iron lung?
A negative pressure ventilator used to assist breathing in polio patients with respiratory paralysis.
121
What concerns are associated with smallpox as a bioweapon?
Concerns about vaccine stockpiles and preparedness.
122
How many serotypes does poliovirus have?
Poliovirus has three serotypes: PV1, PV2, and PV3.
123
What is the transmission route for poliovirus?
Poliovirus is transmitted via the fecal-oral route.
124
What is an Iron Lung?
A negative pressure ventilator used to assist breathing in polio patients with respiratory paralysis.
125
Who founded the National Foundation for Infantile Paralysis?
Founded by Franklin D. Roosevelt to fund polio research and support patients.
126
What is Post-Polio Syndrome?
A condition affecting polio survivors years after recovery, characterized by new muscle weakness and fatigue.
127
What caused the increase in severe effects of polio in the 20th century?
Improved sanitation reduced early exposure to poliovirus, leading to more severe cases in older children and adults.
128
What is the Inactivated Polio Vaccine (IPV)?
Developed by Jonas Salk in 1955, IPV uses inactivated poliovirus to induce immunity.
129
What were the Polio Pioneers/Polio Vaccine Field Trials in 1954?
Involved 1.8 million children and demonstrated the efficacy of the Salk vaccine.
130
What is the Oral Polio Vaccine (OPV)?
Developed by Albert Sabin in 1961, OPV uses live, attenuated poliovirus and is easier to administer than IPV.
131
What is Vaccine-Associated Paralytic Poliomyelitis (VAPP)?
A rare complication of OPV where the vaccine virus reverts to a virulent form, causing paralysis.
132
What are Circulating Vaccine-Derived Poliovirus (cVDPVs)?
Poliovirus strains that emerge when the attenuated vaccine virus circulates in under-immunized populations and reverts to a virulent form.
133
What is the Global Polio Eradication Initiative (GPEI)?
Launched in 1988, GPEI aims to eradicate polio through vaccination and surveillance.
134
What is the current status of the polio eradication effort?
Wild poliovirus is endemic in Afghanistan and Pakistan, with ongoing outbreaks of vaccine-derived poliovirus.
135
What was the First Plague Pandemic?
The Plague of Justinian (541-542 AD).
136
What was the Second Plague Pandemic?
The Black Death (1347-1351).
137
What was the Third Plague Pandemic?
Began in China in 1855 and spread globally.
138
What caused the Black Death?
A devastating pandemic caused by Yersinia pestis, killing an estimated 25-50 million people in Europe.
139
How is Yersinia pestis transmitted?
Transmitted by fleas that infest rodents, particularly rats.
140
What are the natural reservoirs of Yersinia pestis?
Marmots in Central Asia are natural reservoirs, with fleas transmitting the bacteria to humans.
141
How do fleas act as vectors of Yersinia pestis?
Fleas become infected by feeding on infected rodents and can transmit the bacteria to humans through bites.
142
How did the plague spread through trading routes?
The plague spread along trade routes, including the Silk Road, facilitated by increased trade and movement of goods.
143
How did the plague spread throughout Europe?
The plague reached Europe via Genoese ships from the Black Sea, spreading rapidly due to poor sanitation and high population density.
144
What was the impact of the Black Death in Europe?
Killed an estimated 30-60% of Europe’s population, leading to significant social and economic changes.
145
What were the social consequences of the Black Death?
Led to labor shortages, increased wages for workers, and changes in social structures.
146
Who discovered Yersinia pestis?
Discovered by Alexandre Yersin in 1894 during the Third Plague Pandemic.
147
What was the 1918 influenza pandemic also known as?
The Spanish flu.
148
How many people were infected during the 1918 influenza pandemic?
Infected an estimated 500 million people worldwide.
149
What was the estimated death toll of the 1918 influenza pandemic?
Killed 50-100 million people.
150
Why was the 1918 influenza pandemic called the 'Spanish flu'?
Because Spain, a neutral country during WWI, reported on the outbreak more freely than other nations.
151
Where is it believed the 1918 influenza pandemic originated?
Believed to have originated at Camp Funston in Kansas. This was a facility at Fort Riley
152
How did WWI facilitate the spread of influenza?
The movement of troops during WWI facilitated the rapid spread of the influenza virus across the globe. Trenches also were not great
153
How did influenza spread in the U.S. during the 1918-1920 pandemic?
Spread rapidly across the U.S., affecting both urban and rural areas, overwhelming healthcare systems.
154
What were the disease control efforts during the 1918-1920 influenza pandemic?
Public health measures included quarantine, isolation, and the use of face masks.
155
What were the social attitudes toward disease control efforts during the 1918 pandemic?
Public compliance was mixed, with some resisting quarantine and mask mandates.
156
What is a cytokine storm?
An overactive immune response that can cause severe inflammation and tissue damage.
157
What are mahogany spots?
A characteristic symptom of the 1918 influenza pandemic, involving dark, purplish spots on the skin.
158
What is heliotrope cyanosis?
A bluish-purple discoloration of the skin caused by low oxygen levels.
159
What was the global toll of the 1918-1920 influenza pandemic?
Killed an estimated 50-100 million people, making it one of the deadliest pandemics in history.
160
What is typhoid fever caused by?
Caused by Salmonella enterica serotypes Typhi and Paratyphi.
161
How is typhoid fever transmitted?
Spread via the fecal-oral route, typically through contaminated food or water.
162
Where is typhoid fever more prevalent?
Higher incidence in areas with poor water treatment and sanitation infrastructure.
163
What are the symptoms of typhoid fever in Week 1?
Gradually increasing fever, headache, fatigue, malaise, dry cough.
164
What are the symptoms of typhoid fever in Week 2?
High fever (104 °F), relative bradycardia, delirium, rash, abdominal pain, constipation or diarrhea.
165
What are the symptoms of typhoid fever in Week 3?
High fever, dehydration, weight loss, delirium.
166
What complications can arise from typhoid fever?
Intestinal hemorrhage, intestinal perforation, encephalitis, pneumonia.
167
What is the disease course of typhoid fever without treatment?
Can last for a month, with a 10-30% mortality rate.
168
What is the pathophysiology of typhoid fever?
Bacteria invade the intestinal mucosa, spread to mesenteric lymph nodes, and enter the bloodstream.
169
How can typhoid fever be prevented?
Improved sanitation, chlorination of drinking water, and vaccination.
170
What are the personal and societal impacts of typhoid fever?
Significant morbidity and mortality, especially in areas with poor sanitation.
171
What causes Hansen’s Disease (Leprosy)?
Caused by Mycobacterium leprae, an acid-fast bacterium.
172
Who identified the bacterium that causes Hansen’s Disease?
Identified by Gerhard Henrik Armauer Hansen in 1873.
173
How is Hansen’s Disease transmitted?
Spread through prolonged close contact with an infected person, likely via respiratory droplets.
174
Where is Hansen’s Disease endemic?
Endemic in certain regions of Africa, Asia, and South America.
175
What are the symptoms of Hansen’s Disease?
Hypopigmented or reddish skin lesions, thickened peripheral nerves, muscle weakness, and deformities.
176
What is the disease course of Hansen’s Disease?
Chronic infection with an incubation period ranging from <1 year to >20 years.
177
What is the pathophysiology of Hansen’s Disease?
M. leprae infects skin macrophages and Schwann cells, leading to nerve damage.
178
How is Hansen’s Disease diagnosed?
By finding at least one of the three cardinal signs: loss of sensation, thickened nerves, or acid-fast bacilli.
179
What is the treatment for Hansen’s Disease?
Multidrug therapy (MDT) with dapsone, rifampicin, and clofazimine for 6-12 months.
180
How can Hansen’s Disease be prevented?
Early diagnosis and treatment to prevent transmission.
181
What are the personal and societal impacts of Hansen’s Disease?
Stigma and discrimination leading to social isolation and exclusion.
182
What causes syphilis?
Caused by the bacterium Treponema pallidum.
183
What are the alternative names for syphilis?
The 'great imitator' due to its wide range of symptoms.
184
What are the symptoms of primary syphilis?
Chancre (painless ulcer) at the site of infection.
185
What are the symptoms of secondary syphilis?
Rash, fever, swollen lymph nodes.
186
What are the symptoms of tertiary syphilis?
Gummas, neurosyphilis, cardiovascular syphilis.
187
What causes sickle-cell disease?
Caused by a mutation in the hemoglobin subunit β gene (HBB).
188
Where did the sickle-cell mutation likely arise?
In regions where malaria is endemic.
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How is sickle-cell disease inherited?
Autosomal recessive inheritance; two copies of the mutated gene are needed.
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What are the symptoms of sickle-cell disease?
Anemia, and painful crisis, pain, and organ damage.
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What is the pathophysiology of sickle-cell disease?
HbS polymerizes under low oxygen conditions, causing red blood cells to sickle.
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What are the personal and societal impacts of sickle-cell disease?
Introduced to explore genetic disease and heterozygote advantage.
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What causes cystic fibrosis?
Caused by mutations in the CFTR gene.
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What are the symptoms of cystic fibrosis?
Chronic lung infections, difficulty breathing, poor growth, and digestive problems.
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What are the personal and societal impacts of cystic fibrosis?
Used to explore genetic disease and the concept of heterozygote advantage.
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What causes cholera?
Caused by Vibrio cholerae, a bacterium that produces cholera toxin.
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What are the symptoms of cholera?
Severe diarrhea, vomiting, dehydration, and electrolyte imbalance.
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What is the pathophysiology of cholera?
Cholera toxin increases cAMP levels in intestinal cells, leading to massive fluid secretion.
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What are the personal and societal impacts of cholera?
Introduced to talk about heterozygote advantage.
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What causes phenylketonuria (PKU)?
Caused by mutations in the PAH gene, leading to a deficiency in phenylalanine hydroxylase.
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How is phenylketonuria transmitted?
Autosomal recessive inheritance.
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What are the symptoms of phenylketonuria?
Intellectual disability, seizures, behavioral problems, and musty body odor if untreated.
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What is the pathophysiology of phenylketonuria?
Deficiency in PAH leads to accumulation of phenylalanine, which is toxic to the brain.
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What are the personal and societal impacts of phenylketonuria?
Increases resistance to ochratoxin A, a toxin produced by fungi.
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What are the symptoms and signs of phenylketonuria (PKU)?
Intellectual disability, seizures, behavioral problems, and musty body odor if untreated.
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What is the pathophysiology of phenylketonuria (PKU)?
Deficiency in PAH leads to accumulation of phenylalanine, which is toxic to the brain.
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What are the personal and societal impacts of phenylketonuria (PKU)?
Increases resistance to ochratoxin A, a toxin produced by fungi that can contaminate stored grains.
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What is ochratoxin A toxicity caused by?
Caused by ochratoxin A, a mycotoxin produced by fungi such as Aspergillus and Penicillium.
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Where is ochratoxin A found?
Found in moldy grains and foods, particularly in regions with poor food storage.
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What are the symptoms and signs of ochratoxin A toxicity?
Kidney damage, liver damage, and potential carcinogenic effects.
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What are the personal and societal impacts of ochratoxin A toxicity?
Ochratoxin A toxicity can cause significant health problems, particularly in regions with poor food safety practices.
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What is the etiology of smallpox?
Caused by the variola virus.
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What is the etymology of smallpox?
From the Latin 'variola,' meaning 'pustule' or 'pimple.'
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How is smallpox transmitted?
Through respiratory droplets and direct contact with lesions.
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When was smallpox eradicated?
Eradicated globally in 1980.
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What are the symptoms and signs of smallpox?
High fever, headache, backache, vomiting, and a centrifugal rash starting with macules that progress to papules, vesicles, pustules, and scabs.
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What is the disease course of smallpox?
Contagious until the last scab falls off, with a 30% mortality rate.
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What is the pathophysiology of smallpox?
Variola virus replicates in the respiratory tract, spreads to lymph nodes, and causes a systemic infection with skin lesions.
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How is smallpox prevented?
Vaccination with vaccinia virus.
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What are the personal and societal impacts of smallpox?
Smallpox caused significant mortality and morbidity before its eradication, and its eradication is one of the greatest public health achievements.
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What are the origins of cowpox?
First described in the 18th century, used by Edward Jenner to develop the smallpox vaccine.
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What are the personal and societal impacts of cowpox?
Cowpox played a crucial role in the development of the smallpox vaccine, leading to the eventual eradication of smallpox.
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What is the etiology of poliomyelitis (polio)?
Caused by the poliovirus, with three serotypes (PV1, PV2, PV3).
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How is polio transmitted?
Through the fecal-oral route and oral-oral route.
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Where is polio distributed?
Global, with wild poliovirus remaining endemic in Afghanistan and Pakistan.
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What are the symptoms and signs of polio?
70% of cases are asymptomatic; mild illness includes fever, sore throat, headache; non-paralytic polio includes meningitis; paralytic polio includes muscle weakness and paralysis.
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What is the disease course of polio?
Most cases are mild, but paralytic polio can lead to permanent disability or death.
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What is the pathophysiology of polio?
Poliovirus replicates in the oropharynx and intestines, spreads to the central nervous system, and destroys motor neurons.
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How is polio prevented?
Vaccination with inactivated polio vaccine (IPV) or oral polio vaccine (OPV).
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What are the personal and societal impacts of polio?
Polio caused widespread fear and disability in the 20th century; vaccination has nearly eradicated the disease, but challenges remain in endemic areas.
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What is the etiology of bubonic and pneumonic plague?
Caused by Yersinia pestis.
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What are the alternative names for bubonic plague?
Black Death.
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What are the origins of the plague?
Known since ancient times, with major pandemics in the 6th, 14th, and 19th centuries.
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How is bubonic plague transmitted?
Through flea bites from infected rodents.
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How is pneumonic plague transmitted?
Through respiratory droplets from infected individuals.
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Where is the plague distributed?
Endemic in certain regions, including parts of Africa, Asia, and the Americas.
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What are the symptoms and signs of bubonic plague?
Fever, chills, painful swollen lymph nodes (buboes), dark discoloration of extremities (acral necrosis).
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What are the symptoms and signs of pneumonic plague?
Severe pneumonia, fever, shortness of breath, bloody sputum.
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What is the disease course of bubonic plague?
30-60% mortality if untreated.
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What is the disease course of pneumonic plague?
Nearly always fatal if untreated.
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What is the pathophysiology of the plague?
Y. pestis blocks flea digestion, causing fleas to bite repeatedly; bacteria spread to lymph nodes (bubonic) or lungs (pneumonic).
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What are the personal and societal impacts of the plague?
Plague has caused devastating pandemics, with significant mortality and social disruption; modern antibiotics have reduced its impact, but it remains a public health concern in endemic areas.
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What is the etiology of the 1918-1920 pandemic influenza (Spanish flu)?
Caused by the H1N1 influenza A virus.
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What is the etymology of the Spanish flu?
Misnamed 'Spanish flu' because Spain, a neutral country in WWI, reported on the pandemic freely, while other countries suppressed news.
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What are the alternative names for the Spanish flu?
Spanish flu.
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Where was the Spanish flu first identified?
First identified in the U.S. at Camp Funston, Kansas, in 1918.
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How is the Spanish flu transmitted?
Through respiratory droplets and close contact.
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What is the distribution of the Spanish flu?
Global, with an estimated 500 million cases.
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What are the symptoms and signs of the Spanish flu?
Fever, cough, sore throat, muscle pain; severe cases include cyanosis, mahogany spots, respiratory failure.
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What is the disease course of the Spanish flu?
Rapid onset, with severe cases progressing to pneumonia and death within days.
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What is the pathophysiology of the Spanish flu?
The virus caused a cytokine storm, leading to severe inflammation and tissue damage, particularly in the lungs.
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How was the Spanish flu diagnosed?
Clinical diagnosis, with later confirmation through serology or PCR.
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What was the treatment for the Spanish flu?
Supportive care; no specific antiviral treatment at the time.
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What were the prevention measures for the Spanish flu?
Quarantine, social distancing, and hygiene measures.
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What are the personal and societal impacts of the Spanish flu?
The pandemic caused an estimated 50 million deaths worldwide, with significant social and economic disruption; it highlighted the need for better public health infrastructure.
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Meaning of rare disease to patients
Difficulty in Obtaining Accurate Diagnosis
Lack of Information and Resources
Limited Treatment Options
Emotional and Social Impact (Patients may feel isolated, rarity of the disease can lead to a lack of understanding)
Financial Burden:
expensive treatment, and insurance troubles
Travel for Specialized Care
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paradox of rarity
Rare diseases are rare, but rare disease patients are many
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Incentives from ODA
tax credit, market exclusivity, federal grants
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Drugs Approved under ODA
Phenylketonuria: Kuvin
Huntington Disease: Tetrabenazine
Cystic Fibrosis: Ivacaftor
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EURORDIS
non-profit alliance of rare disease patient org across Europe. Focuses on advocacy for research, access to treatment, and patient right. Founded Rare disease day, now collaboration with NORD
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why can federal gov quarantine?
Commerce Clause: they can prevent the entry and spread of disease from foreign countries to us and between states. Can enforce federal quarantines laws
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Disease-Avoidance Model of Stigmatization
explains stigma as a behavioral adaptation to avoid disease. According to this model, humans have evolved to avoid individuals who appear sick or who are associated with disease to reduce the risk of infection.
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Visible/Contagious Disease Stigma
Diseases like leprosy or HIV/AIDS, where visible symptoms or known contagion lead to stigma.
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Visible/Non-Contagious Disease Stigma
Conditions like burns or birthmarks, where visible differences trigger avoidance despite no risk of contagion.
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Label/Contagious Disease Stigma
Diseases like sexually transmitted infections (STIs), where the label alone can lead to stigma, even if the person is not visibly sick.
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Label/Non-Contagious Disease Stigma
Conditions like diabetes or epilepsy, where the label may lead to stigma despite no visible symptoms or risk of contagion.
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How to combat stigma
Education and Awareness:
Example: Rare Disease Day, founded by EURORDIS, raises awareness about rare diseases and their impact on patients.
Public Figures and Advocacy:
Example: Princess Diana famously shook hands with HIV/AIDS patients without gloves, challenging the stigma surrounding the disease.
Media Representation:
Example: The TV show Quincy, M.E. raised awareness about rare diseases and advocated for the Orphan Drug Act.
Community Support and Empowerment:
Example: The National Organization for Rare Disorders (NORD) and EURORDIS offer resources and support for rare disease patients.
Policy and Legal Protections:
Example: The Americans with Disabilities Act (ADA) protects individuals with disabilities, including those with chronic illnesses, from discrimination.
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Who faced COVID 19 stigma
People who tested positive, recovered from the virus, or were from areas with outbreaks (e.g., Wuhan, China) faced discrimination.
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Historical Hansen's Disease Stigma
Hansen’s disease often associated with moral failings or divine punishment.
Individuals isolated in leper colonies or lazarettos, such as Kalaupapa, Moloka’i in Hawaii and Carville, Louisiana in the U.S.
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leprosaria
Facilities or communities where individuals with Hansen’s disease (leprosy) were isolated from the general population. Had poor living conditions, lack of medical care, and social isolation.
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U.S. Marine Hospital No. 66
The official name of the facility when Carville Lepersarium was taken over by the U.S. Public Health Service (USPHS) in 1921.
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Ethical concerns of medical research
Historical Examples of Exploitation:
Tuskegee Syphilis Study, Nazi Medical Experiments
Vulnerable Populations:
Low-Income Individuals, Prisoners:, Children and Mentally Ill Individuals
Ethical Concerns:
Lack of Informed Consent, Coercion, Disproportionate Risks: Participants may face significant risks without receiving proportional benefits, particularly in Phase I clinical trials or studies in developing countries.
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Single-Blind Study
A study in which the participants do not know whether they are receiving the experimental treatment or a placebo, but the researchers do.
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Double-Blind Study:
A study in which neither the participants nor the researchers know who is receiving the experimental treatment or a placebo.
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Why does the placebo effect occur?
-Expectations and Conditioning; can trigger physiological responses, such as the release of endorphins (natural painkillers) or other neurotransmitters, leading to a feeling of well-being.
-The Power of the Mind-Body Connection
Neurobiological Mechanisms
placebo effect can lead to measurable changes in brain activity
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Dachau Hypothermia Experiments
Nazi doctors at the Dachau concentration camp during World War II. Subjected prisoners to extreme cold to study hypothermia and potential treatments.
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Eduard Pernkopf’s Anatomic Atlas
Definition: A detailed anatomical atlas created by Eduard Pernkopf, a Nazi sympathizer, using the bodies of executed prisoners.
Relevance: The atlas was widely used in medical education but is now controversial due to its unethical origins.
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Nuremberg ‘Doctors’ Trial’
Definition: A series of military tribunals held after World War II to prosecute Nazi doctors and officials for war crimes and crimes against humanity, including unethical medical experiments.
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IRB (Institutional Review Board)
These committees review research studies to ensure they comply with ethical standards and protect the rights and welfare of human research participants.
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Aplastic crisis
A life-threatening complication where sickled RBCs block blood flow in the lungs, leading to hypoxia (low oxygen levels) and further sickling.
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Splenic Sequestration Crisis:
Description: A sudden pooling of blood in the spleen due to trapped sickled RBCs, leading to a rapid drop in blood volume and severe anemia.
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Aplastic Crisis:
A temporary halt in RBC production, often triggered by infections (e.g., parvovirus B19), leading to severe anemia.
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Hemolytic Crisis:
A rapid destruction of RBCs, leading to a sudden drop in hemoglobin levels and severe anemia.
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why was smallpox a good canidate for eradication
It was a disease with a distinctive, easily identifiable rash, no animal reservoir, and a highly effective, heat-stable vaccine that provided long-lasting immunity with a single dose
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Dryvax
Dryvax was a key tool in the World Health Organization's (WHO) Intensified Smallpox Eradication Programme (1967-1980
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Intensified Smallpox Eradication Programme;
global initiative led by the World Health Organization (WHO) from 1967 to 1980 that successfully eradicated smallpox
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What strategies did the ISEP use
intense disease surveillance and the ring vaccination strategy
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Intense Disease Surveillance:
To identify and track every case of smallpox in real-time, ensuring rapid containment of outbreaks. (there was a reporting system)
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Ring Vaccination Strategy:
To contain outbreaks by vaccinating individuals in close contact with infected persons, creating a "ring" of immunity around each case.
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Post- Exposure Prophylaxis
a medical treatment taken after a possible exposure to a disease or infection to prevent the development of the disease
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Why are smallpox virus retained and where
Kept for research in Russia and USA
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Spanish flue misnomer
The "Spanish flu" is a misnomer for the 1918 influenza pandemic because the flu did not originate in Spain, but rather, Spain's uncensored press reported on the outbreak, leading to the false associatio
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