Student Presentations

Question 1

what is Antiphospholipid syndrome

Answer 1

A disorder in which the immune system attacks healthy proteins in the blood leading to an increased risk of blood clots.

Question 2

causes of APS

Answer 2

Pregnancy

Infections

Medications such as hydralazine or procainamide

Hormonal changes specifically related to pregnancy and oral contraceptive use

Environmental triggers such as smoking

Question 3

pathophysiology of APS

Answer 3

Immune system makes an abnormal protein called antiphospholipid antibodies. The antibodies attack the phospholipids and phospholipid-binding proteins which causes damage which leads to formation of blood clots in arteries and veins.

Question 4

what is disseminated intravascular coagulation (DIC)

Answer 4

Thrombotic disease due to the overactivation of the coagulation cascade. Also called consumption coagulopathy because excessive clotting consumes all the platelets and clotting factors.

Paradoxical condition because clotting and hemorrhage may occur.

causes:
Stroke, Gynecologic complications such partial placenta left following birth, and massive trauma

Cancer: leukemia, colon cancer, and pancreatic carcinoma

Most common cause: Sepsis

Question 5

risk factors for DIC

Answer 5

○ Pancreatitis
○ Blood Infection
○ Recent surgery or anesthesia
○ Burns
○ Pregnancy complications
○ Liver disease
○ Reaction to blood transfusion

Question 6

what is factor V Leiden

Answer 6

Factor V Leiden is a genetic mutation of the factor V clotting protein called factor V G1691A, causing hypercoagulation and can possibly result in a VTE (most commonly a DVT or PE).

The mutation that occurs affects the structure of the protein and essentially disables it from accepting any of the anticoagulation proteins (e.g protein C), and so it goes into overdrive and creates too much clotting.

Causes:
genetic/ inherited condition

autosomal dominant genetic condition

Not every person with the mutation will develop the disease

Structures involved: F5 gene, Arg506 cleavage site for protein C, veins (DVT), lungs (PE), placenta (miscarriage)

Question 7

what is Eisenmenger syndrome

Answer 7

Eisenmenger syndrome is caused by a congenital heart defect that leads to pulmonary hypertension.

The defect is commonly a ventricular septal defect (VSD) but can also be caused by atrial septal defects(ASD), AV canal defect, patent ductus arteriosus, cyanotic heart disease, and other heart defects.

These defects are known for their shunt of blood flow from left to right in the heart caused by a hole in one or more of the walls that separate the chambers of the heart.

In ES, the abnormal blood flow that leaks from the left side of the heart into the right side via shunting causes an increase in pulmonary artery blood flow.

This causes narrowing of the pulmonary artery lumen and increased pulmonary vascular resistance. Eventually, this will cause the shunt to reverse and become bidirectional or purely right to left which leads to oxygenated and deoxygenated blood mixing.

The combination of pulmonary vascular resistance damaging lung microvasculature and mixing of deoxygenated and oxygenated blood results in systemic hypoxemia.

Hypoxemia due to right to left cardiac shunting transition is where the signs/symptoms and clinical presentation manifest themselves into a multisystem presentation.

Question 8

what is graft vs host disease

Answer 8

Graft vs Host Disease (GVHD) is a complication that can occur after an allogeneic transplant. The graft views the recipient’s cells (host) as a threat and attacks.

Two types of GVHD:
a. Chronic: Can appear any time after transplant but most cases start within two years. Affects skin, mouth, liver, lungs, GI tract, muscles, joints, or genitals.
b. Acute: Occurs shortly after transplant usually within 100 days but symptoms may not show until later. Affects skin, GI tract, or liver.

3 requirements to develop GVHD:
a.Graft must contain immunologically competent cells.
b.The recipient must express tissue antigens not present in the transplant donor.
c.The patient must be incapable of mounting an effective response to eliminate the transplanted cells.

Question 9

what is hemophilia

Answer 9

Hemophilia is a genetic blood disorders that impairs the body’s ability to control bleeding due to low or absent levels of clotting proteins

types A, B, C

During Platelet formation 10 proteins are responsible in forming a blood clot6. Individuals with hemophilia experience a deficiency in of a specific factor

Question 10

what is inhalation disease

Answer 10

Inhalation diseases, also known as pneumoconiosis, are lung conditions caused by breathing in dust particles and cause irreversible lung damage

The most common forms of pneumoconiosis are asbestos, silicosis, and coal miners’ lung

There are simple and complicated forms. Simple pneumoconiosis causes a small amount of scar tissue and forms nodules on lung tissue. Complicated pneumoconiosis causes large amounts of scarring (progressive massive fibrosis).

Pathologic process
1.Inhalation of particles – inhaling inorganic dusts leads to permanent deposition in the lungs and can cause cellular damage
2.Macrophage response – activated macrophages attempt to clear the particles and release fibrogenic factors that promote excessive fibrosis/scarring of lung tissue
3.Nodule Formation – fibrotic nodules form over time, leading to progressive lung dysfunction and increased susceptibility to complications like TB and chronic bronchitis

Question 11

what is lupus

Answer 11

Lupus is an autoimmune disease that targets body tissues and organs. The cause is unknown, but it can be triggered by sunlight, infections, or certain drugs/medication.

Question 12

what is Marfan’s syndrome

Answer 12

Marfan’s syndrome is a genetic condition that impacts the connective tissue in the body.

Common structures affected include: eyes, heart, skeleton, and blood vessels

The main cause of Marfan’s syndrome includes: a defect in the gene that allows your body to produce a protein (Fibrillin) that gives your body strength and elasticity.

clinical features:
● Slender and tall physical stature
●Disproportionately long arms and legs
●Abnormally long, slender fingers and toes
●Hypermobility
●One to three organ systems

Question 13

what is metabolic syndrome

Answer 13

Metabolic syndrome is a cluster of metabolic disorders such as central obesity, insulin resistance, hypertension, and dyslipidemia that increase the risk of cardiovascular disease, type 2 diabetes, and stroke.

Other names for metabolic syndrome are: Syndrome X, Insulin resistance syndrome, and Dysmetabolic Syndrome.

Question 14

what is obstructive sleep apnea

Answer 14

Definition of condition:
Obstructive sleep apnea (OSA) is episodes of complete or partial airway collapse that causes a decrease in oxygen saturation.

Causes:
- The causes of OSA include the pharyngeal narrowing which can be caused by large neck circumference, soft tissue, bone, or vessels. -These structures can lead to increased pressure around the upper airway which can cause insufficient space for airflow to the upper airway during sleep.

Structures involved: pharynx, upper airway, retropalatal area, tonsils, hyoid bone, mandibular bone, upper airway muscles, nose, oropharynx, nasopharynx, hypopharynx, and tongue.

Question 15

what is polycythemia vera

Answer 15

Polycythemia Vera (PV) is the uncontrolled production of erythrocytes. PV is a myeloproliferative neoplasm of bone marrow stem cells, affecting erythrocyte production1. The primary cause of PV is due to a genetic abnormality. There is a potential for progression to leukemia

Question 16

what is Raynaud’s disease

Answer 16

affects distal areas of the body that causes the limbs to feel numb in response to cold or stress

In Primary Raynaud’s, there is no known cause making it idiopathic.

Secondary Raynaud’s is cause by other medical conditions or are drug related.

Other conditions include occupational hazards (such as construction workers having hand arm vibration syndrome), autoimmune disease (such as lupus or systemic sclerosis), drugs such (such as beta blockers or amphetamine), or other things like hypothyroidism or frostbite.

Question 17

what is superior mesenteric artery syndrome

Answer 17

Rare disease defined as the compression of the third portion of the duodenum between arteries

The cause of the disease is unknown

Structures involved: Duodenum, Abdominal Aorta, Superior Mesenteric Artery

Question 18

what are thoracic hernia

Answer 18

hiatal or diaphragmatic

A hiatal hernia is an abnormal protrusion of the upper portion of the stomach including other internal organs through the diaphragmatic hiatus. This impacts the lower esophageal sphincter and gastroesophageal junction. There are 4 types of hiatal hernias that vary depending on the structures that protrude through the diaphragmatic hiatus.

A diaphragmatic hernia is a congenital defect resulting from a developmental defect in the diaphragm that leads to protrusion of abdominal contents into the thoracic cavity. There are three types of classifications of diaphragmatic hernias based on the location of the diaphragmatic defect.

Question 19

what is Wegener’s granulomatosis

Answer 19

Autoimmune disorder where blood vessels become inflamed

Inflammation of blood vessels can ultimately lead to ischemia, tissue loss, and organ damage

Question 20

what is Goodpasture’s syndrome

Answer 20

Autoimmune disease in which the immune system attacks collagen in the small vessels of the lungs and kidneys

Question 21

list the condition for the following risk factors and S&S:

Signs and Symptoms:
○ Fatigue
○ Headache
○ Leg pain/ swelling
○ SOB
○ Chest pain
○ Sudden numbness or weakness of face
○ Preeclampsia
○ Coughing up blood

Causes:
○ Pregnancy
○ Infections
○ Medications such as hydralazine or procainamide
○ Hormonal changes specifically related to pregnancy and oral contraceptive use
○ Environmental triggers such as smoking

Answer 21

Antiphospholipid Syndrome

Question 22

list the condition for the following risk factors and S&S:

Risk factors:
○ Pancreatitis
○ Blood Infection
○ Recent surgery or anesthesia
○ Burns
○ Pregnancy complications
○ Liver disease
○ Reaction to blood transfusion

Clinical presentation = Patient experiencing unexplained bleeding or thromboembolism

Signs and Symptoms:
○ Unexplained bleeding
○ Dizziness
○ Hypotension
○ Confusion
○ Blood in urine/stool
○ Generalized sweating
○ Cold fingers and toes
○ Petechiae
○ Bruising
○ Vomiting
○ Shortness of breath

Answer 22

Disseminated Intravascular Coagulation (DIC)

Question 23

list the condition for the following risk factors and S&S:

Risk factors:
○ Increased chance of having a VTE
○ One or both parents carrying the gene (Autosomal dominant inheritance pattern)

Signs and Symptoms:
○ No primary S&S
○ Higher risk for a VTE; clinician should be aware of S&S of DVTs & PEs

Answer 23

Factor V Leiden

Question 24

list the condition for the following risk factors and S&S:

Common S&S:
o Angina
o Arrythmias
o Digital clubbing of fingers and toes
o Edema
o Cyanosis
o Exercise intolerance
o Fatigue
o Heart palpitations
o Dyspnea on exertion or at rest
o Hemoptysis
o Syncope

risk factor:
*Children or young adults with uncorrected heart defects

Answer 24

Eisenmenger Syndrome

Question 25

list the condition for the following risk factors and S&S:

Risk factors:
a. Receiving human leukocyte antigens (HLA) that are a mismatch
b. A donor who has been pregnant in the past
c. Advanced age of donor or recipient
d. Mismatched sex
e. Donor cells taken from the blood stream instead of bone marrow

S&S
a. Rash
b. mouth sores
c. dry eyes
d. gum disease
e. shortness of breath
f. hair loss (head and body)
g. jaundice
h. dry persistent cough
i. vision changes
j. nausea and vomiting
k. muscle weakness/pain

Answer 25

Graft vs. Host Disease

Question 26

list the condition for the following risk factors and S&S:

Risk factors = Genetic Disposition
 Require both parents to be carriers
 Approximately 1000 mutations for factors VII and IV
 100% of females born from affected fathers will be carriers
 Female carrier mothers have a 50% chance of having affected males and 50% of having female carriers
 Females can be affected if there is a complete inactivation of chromosome x, or the absence of chromosome X as seen in turners syndrome

Signs and symptoms
o Excessive bleeding from cuts, injuries/trauma, medical procedures, needles, or surgery
o Frequent and easy bruising
o Pain, swelling, and tightness in joints
o Frequent nosebleeds
o Blood in urine/stool
o In infants, irritability is common

Answer 26

Hemophilia

Question 27

list the condition for the following risk factors and S&S:

Risk factors
*People exposed to high amounts of dust for long periods of time
*Smoking
*Working around noxious inhalants

Signs and symptoms
* Shortness of breath
* Nonproductive cough
* Large amounts of phlegm
* Chest pain
* Black sputum common in coal miner’s lung
* Fatigue
* Decreased exercise tolerance
* Fever

Answer 27

Inhalation Diseases

Question 28

list the condition for the following risk factors and S&S:

Risk Factors/Population Affected
*Women > Men (9/10 people with Lupus are women)
*15-44 years old
*Races most affected: African American, Hispanic, Asian, Native Americans, Alaska Natives

Flares & Remissions
Flares can be years apart, while some people have them more often than others

Common S&S
 Fatigue or extreme tiredness – most common symptom
 P! or swelling in muscles and joints
 Butterfly skin rash on the face
 Fever
 Hair loss
 Frequent mouth sores

Less Common S&S
 Sensitivity to the sun
 Heart, Kidney, or lung problems
 Chest pain with deep breathing
 Fingers or toes turning blue/white or feeling numb
 Blood clotting problems
 Mental conditions and memory changes
 Eye damage

Answer 28

Lupus

Question 29

list the condition for the following risk factors and S&S:

Clinical features
● Slender and tall physical stature
●Disproportionately long arms and legs
●Abnormally long, slender fingers and toes
●Hypermobility
●One to three organ systems

The main cause includes: a defect in the gene that allows your body to produce a protein (Fibrillin) that gives your body strength and elasticity.

Answer 29

Marfan’s syndrome

Question 30

list the condition for the following risk factors and S&S:

Causes
○ closely linked to overweight or obesity, inactivity as well as insulin resistance.
○A buildup of fatty tissue in the abdomen results in insulin resistance, which can be acquired or result from genetic predisposition.
○Factors contributing to insulin resistance are impaired signaling pathways, insulin receptor defects, and defective insulin secretion.

Factors that increase the chances of having condition:
■ Age
■ Ethnicity
■ Obesity
■ Diabetes
■ Other diseases such as nonalcoholic fatty liver disease, polycystic ovary syndrome (PCOS) or sleep apnea.

S&S:
■Abdominal obesity (waist circumference >35 inches for women and >40 inches for men) (Obesity makes it more difficult for the body’s cells to respond to insulin)
■High Blood Pressure (≥130/80 mmHg)
■Impaired fasting blood glucose (≥100 mg/dL)
■High triglyceride levels (>150 mg/dL)
■Low HDL levels (> 40 mg/dL for men and >50 mg/dL for women)

Answer 30

Metabolic Syndrome

Question 31

list the condition for the following risk factors and S&S:

Risk Factors:
*Anatomical risk factors: facial elongation, mandibular hypoplasia, adenoid and tonsillar hypertrophy, inferior displacement of the hyoid
*Nonanatomic risk factors: central fat distribution, obesity, advanced age, male gender, supine sleeping position, and pregnancy.
*Other risk factors: alcohol use, smoking, use of sedatives and hypotonics, and family history
*Medical conditions: endocrine disorders, neurological disorder, Prader Willi syndrome, down syndrome, congestive heart failure, atrial fibrillation, and obesity hypoventilation syndrome

S&S
*Loud snoring, episodes of stopped breathing during sleep, and waking during the night with gasping or choking due to throat collapsing
*High blood pressure
*Sore throat or dry mouth due to sleeping with mouth open
*Morning headaches, excessive daytime sleepiness, trouble focusing, mood changes, and decreased sex drive due to lack of sleep

Answer 31

Obstructive Sleep Apnea

Question 32

list the condition for the following risk factors and S&S:

S&S:
- hyperviscosity of blood
- hypervolemia
- hypermetabolism
- Increased concentration of RBC (causes HTN and neuro S&S)

hypertension and increase neurological symptoms such as:
- headache
- blurred vision
- fullness feeling in the head
- ringing in the ears
- vertigo
- bone pain
- sensation disturbance in hands and feet

Sensation differences are due to blockage of capillaries and may cause peripheral vascular neuropathy. However, PV is frequently asymptomatic

risk factors:
- Those who have been attributed to benzene and other occupational exposures such as radiation

Answer 32

Polycythemia Vera

Question 33

list the condition for the following risk factors and S&S:

Risk factors:
i. Female gender
ii. Age
iii. Region the patient lives
iv. Family history
v. Certain disease: such as lupus can increase your likelihood of developing secondary Raynaud’s
vi. Smoking

Signs and symptoms
i. Sensitivity to the cold
ii. Lack of coloring in the areas affected
(Clinical triad: fingers that turn white, then blue, then red)
iii. If progressed with no return of blood flow to the digits, can turn into gangrene or ulcers

Answer 33

Raynaud’s Disease/Phenomenon

Question 34

list the condition for the following risk factors and S&S:

Signs and symptoms – Vague and nonspecific

oNausea and vomiting, epigastric pain, early satiety, post-prandial discomfort, bloating, and weight loss
oDiffer depending on acute versus chronic phase of condition
oPain in supine is often relieved by transitioning to prone or L lateral decubitus position

Risk Factors:
-Significant Weight Loss
- Hypermetabolism
- Dietary Conditions
- Cachexia Conditions
- congenitally short
- hypertrophic ligament of Treitz

Answer 34

Superior Mesenteric Artery Syndrome

Question 35

list the condition for the following risk factors and S&S:

Risk Factors:
- genetic abnormalities
- geographical regions
- maternal socioeconomics
- maternal use of medications
- maternal use of alcohol
- smoking during pregnancy
- male gender
- maternal age > 35 years of age