FINAL PATHO EXAM LATEST | Exams Pathophysiology

Turner syndrome

A chromosomal disorder in females in which either an X chromosome is missing, making the

person XO instead of XX, or part of one X chromosome is deleted.

Patients with suspected Turner syndrome require genetic testing and hormone level evaluation.

Echocardiogram, bone density, and bone age testing are necessary. Treatment involves estrogen

therapy and growth hormone administration. The patient should be treated symptomatically for

all other effects of the disease.

-Underdeveloped ovaries (sterile)

-Short stature (~ 4'7")

-Webbing of the neck

-Edema

-Underdeveloped breasts; wide nipples

-High number of aborted fetuses

Tay-Sachs Disease

A human genetic disease caused by a recessive allele for a dysfunctional enzyme leads to the

accumulation of certain lipids in the brain.

Seizures, blindness, and degeneration of motor and mental performance usually become

manifest a few months after birth, followed by death within a few years.

Down syndrome

A condition of mild to severe intellectual disability and associated physical disorders caused by

an extra copy of chromosome 21

Marfan Syndrome - Autosomal dominant trait -This condition is inherited in an autosomal

dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause

the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the

FBN1 gene

Marfan's Syndromes genetic trait type

Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal

copy of the Marfan gene inherited from one parent is sufficient to have the condition. Defects or

deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfan

syndrome.

Spina Bifida

Not having enough folic acid during pregnancy is one of the most important factors that can

increase the chances of having a child with spina bifida.

Cushing's syndrome =moonfaced

Viral hemorrhagic fevers are spread by contact with infected animals or insects. The viruses

that cause viral hemorrhagic fevers live in a variety of animal and insect hosts.

Most commonly, the hosts include mosquitoes, ticks, rodents, or bats. Some viral hemorrhagic

fevers can also be spread from person to person.

MRSA

Methicillin-resistant Staphylococcus aureus (MRSA) infection is caused by a type of staph

bacteria that's become resistant to many of the antibiotics used to treat ordinary staph

infections.

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Turner syndrome A chromosomal disorder in females in which either an X chromosome is missing, making the person XO instead of XX, or part of one X chromosome is deleted. Patients with suspected Turner syndrome require genetic testing and hormone level evaluation. Echocardiogram, bone density, and bone age testing are necessary. Treatment involves estrogen therapy and growth hormone administration. The patient should be treated symptomatically for all other effects of the disease. -Underdeveloped ovaries (sterile) -Short stature (~ 4'7") -Webbing of the neck -Edema -Underdeveloped breasts; wide nipples -High number of aborted fetuses Tay-Sachs Disease A human genetic disease caused by a recessive allele for a dysfunctional enzyme leads to the accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few months after birth, followed by death within a few years. Down syndrome A condition of mild to severe intellectual disability and associated physical disorders caused by an extra copy of chromosome 21 Marfan Syndrome - Autosomal dominant trait -This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene Marfan's Syndromes genetic trait type Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inherited from one parent is sufficient to have the condition. Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfan syndrome. Spina Bifida Not having enough folic acid during pregnancy is one of the most important factors that can increase the chances of having a child with spina bifida. Cushing's syndrome =moonfaced Viral hemorrhagic fevers are spread by contact with infected animals or insects. The viruses that cause viral hemorrhagic fevers live in a variety of animal and insect hosts. Most commonly, the hosts include mosquitoes, ticks, rodents, or bats. Some viral hemorrhagic fevers can also be spread from person to person. MRSA Methicillin-resistant Staphylococcus aureus (MRSA) infection is caused by a type of staph bacteria that's become resistant to many of the antibiotics used to treat ordinary staph infections.

Anemia Different types of anemia include: Anemia due to vitamin B12 deficiency Anemia due to folate (folic acid) deficiency Anemia due to iron deficiency Anemia of chronic disease Hemolytic anemia Idiopathic aplastic anemia Megaloblastic anemia Pernicious anemia Sickle cell anemia Thalassemia Sprains and Strains - A sprain occurs when you overextend or tear a ligament while severely stressing a joint. A strain occurs when tendons (bands at the end of muscles that connect muscles to bones) get stretched or pulled away from the bone. Sprain A sprain is an overstretching of a ligament with a possible tear. A sprain occurs in response to a quick twist or pull of the muscle. It can be caused by a force that displaces a joint from its normal alignment. Sprains most commonly occur around joints. The most common location for a sprain is in the ankle. Strain A strain is an overstretching of tendons and muscle. Strains often occur in the lower back and in the hamstring muscle and result from overuse of muscles, improper use of the muscles, or as the result of injury in another part of the body when the body compensates for pain by altering the way it moves. Pain, weakness, limited range of motion, and muscle spasms are common symptoms experienced after a strain occurs. Bursitis Bursa are fluid-filled, saclike structures between skin and bone or between tendons, ligaments, and bone. They act as cushions to lubricate and decrease friction between bone, ligaments, and tendons. Bursitis occurs when the synovial lining produces excessive fluid, leading to localized swelling and pain. Bursitis can also be caused by autoimmune disorders, gout or pseudogout, infection, traumatic events, and hemorrhagic disorders. Systemic diseases such as rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, scleroderma, systemic lupus erythematosus, pancreatitis, Whipple disease, oxalosis, uremia, hypertrophic pulmonary osteoarthropathy, and idiopathic hypereosinophilic syndrome have also been associated with bursitis. Bursitis - Inflammation of a bursa sac. Inflammation of the fluid-filled pads (bursae) that act as cushions at the joints. Fractures Osteoporosis results in a loss of bone mass. A change in bone mineralization is characteristic of osteomalacia and rickets rather than osteoporosis.

site of the infection and damage the heart valves, which can cause them to leak. Endocarditis is a life-threatening inflammation of the inner lining of the heart's chambers and valves (endocardium). Mitral regurgitation In the left ventricle, papillary muscle rupture causes the mitral valve to be unable to close. With each contraction of the left ventricle, blood flows upward through the loose mitral valve into the left atrium. This causes a mitral valve regurgitation murmur, also called mitral insufficiency. As a consequence, mitral regurgitation often causes backup of blood and hydrostatic pressure into the left atrium, pulmonary veins, and pulmonary capillaries, causing pulmonary edema. Mitral stenosis In mitral stenosis, blood from the left atrium meets resistance when flowing through the narrowed mitral valve into the left ventricle. Mitral stenosis is the narrowing of the mitral valve, which controls blood flow from the heart's left atrium to the left ventricle. The left ventricle is your heart's main pumping chamber. In mitral stenosis, blood from the left atrium meets resistance when flowing through the narrowed mitral valve into the left ventricle. The main cause of mitral valve stenosis is an infection called rheumatic fever, which is related to strep infections. Blood thinners (anticoagulants) to help prevent blood clots. Beta-blockers, calcium channel blockers, or digitalis glycosides to slow your heart rate and allow your heart to fill more effectively. Anti-arrhythmics to treat atrial fibrillation or other irregular heart rhythms associated with mitral valve stenosis. Aortic regurgitation Aortic valve regurgitation — or aortic regurgitation — is a condition that occurs when your heart's aortic valve doesn't close tightly. As a result, some of the blood pumped out of your heart's main pumping chamber (left ventricle) leaks backward. Aortic stenosis Aortic stenosis is one of the most common and serious valve disease problems. Aortic stenosis is a narrowing of the aortic valve opening. Aortic stenosis restricts the blood flow from the left ventricle to the aorta and may also affect the pressure in the left atrium. Which type of valve defect leads to a diastolic murmur? Diastolic murmurs are due to a narrowing (stenosis) of the mitral or tricuspid valves, or regurgitation of the aortic or pulmonary valves. Which type of valve defect leads to a systolic murmur? Systolic regurgitant murmurs include the many variations of mitral valve regurgitation, tricuspid valve regurgitation, and ventricular septal defect. Being able to identify degree of burn, and add other s/s to that degree burn First-degree burns affect only the outer layer of the skin. They cause pain, redness, and swelling. Second-degree burns affect both the outer and underlying layer of skin. They cause pain, redness, swelling, and blistering.

Third-degree burns affect the deep layers of skin. Herbeden and Bouchard Nodes= Osteoarthritis. Identify Upper vs Lower Respiratory infections Upper respiratory tract infections (URTIs). These infections affect the nose, throat, and sinuses. # Common cold.

Epiglottitis.

Laryngitis.

Pharyngitis (sore throat).

Sinusitis (sinus infection).

Mono is Upper respiratory tract infection Lower respiratory tract infections (LRTIs). These infections occur in the airways and the lungs.

Bronchitis

Pneumonia

Bronchiolitis

Tuberculosis

Acid Base Balance - lung and kidney compensation- The kidneys have two main ways to maintain acid-base balance - their cells reabsorb bicarbonate HCO3− from the urine back to the blood and they secrete hydrogen H+ ions into the urine. By adjusting the amounts reabsorbed and secreted, they balance the bloodstream's pH. Multi factorial diseases The majority of diseases are the result of multifactorial genetic influences. Diseases such as hypertension, heart disease, diabetes mellitus (DM), and most cancers are caused by a combination of genetics and environment or a combination of several defective genes working, or not working, together. In these diseases, an individual inherits one or more gene defects that predispose them to a disorder, and then environmental or behavioral triggers such as diet, exposure to toxins, or sedentary lifestyle contribute to disease development. For example, multifactorial inheritance factors are involved in the development of type 1 and type 2 DM: Fluid and Electrolytes Imbalances of the body's biological, and chemical constituents, such as electrolytes, can cause cell injury. For example, high sodium levels in the bloodstream, termed hypernatremia , cause intracellular fluid depletion (cellular dehydration) and reversible cell shrinkage. The symptoms associated with this include #Lethargy #Weakness #Irritability #Confusion Hypoventilation PH A hypoventilating (excessively shallow breathing) person does not expel enough carbon

Duodenal ulcers are a type of peptic ulcer that forms in the upper small intestine. The most common symptom of a duodenal ulcer is a pain in the mid to upper stomach region, especially if this pain intensifies when the stomach is empty or if the pain wakes you up in the middle of the night. Esophageal ulcers are ulcers that develop inside of the esophagus. These ulcers can typically be treated with changes to lifestyle and diet, coupled with certain medications and other treatments. McBurney point corresponds to the location of the base of the appendix and is found by placing the little finger of one hand in the umbilicus and the thumb on the anterior superior ileal spine. Right lower quadrant of abdomen; called McBurney's point. Typical manifestations of appendicitis include abdominal pain that originates in the umbilical region radiating to the RLQ, also known as McBurney's point. Chrons disease A chronic inflammatory bowel disease that affects the lining of the digestive tract. #Persistent diarrhea. #Rectal bleeding. #Urgent need to move bowels. #Abdominal cramps and pain. #Sensation of incomplete bowel evacuation. #Constipation, which can lead to bowel obstruction. RLQ pain causes #Chrons disease #Appendicitis Ulcerative colitis Ulcerative colitis is an autoimmune disease of the large intestine , specifically the colon and rectum. It affects the mucosal layer of the large intestine. How could the provider distinguish ulcerative colitis from Crohn disease? Ulcerative colitis only affects the large intestine , while Crohn's disease can affect the entire length of the gastrointestinal tract. While diarrhea can occur in both, ulcerative colitis is more likely to present with blood in the stool. A colonoscopy will show pseudopolyps for ulcerative colitis but will show a cobblestone appearance for Crohn's disease. Peptic Ulcers Peptic ulcers are open sores that develop on the inside lining of your stomach and the upper portion of your small intestine. The most common symptom of a peptic ulcer is stomach pain. Upper abdominal pain is a common symptom. Treatment consists of antacids Cirrhosis The most common causes of cirrhosis of the liver are #Hepatitis C virus - HCV

#Alcoholic liver disease #Nonalcoholic fatty liver disease -NAFLD. Bladder Cancer vs Kidney Cancer Kidney cancer, also known as renal cancer, occurs when cells in the kidney grow out of control, clump together, and form a malignant tumor. The most common risk factor for developing kidney cancer is smoking. Bladder cancer is a common type of cancer that begins in the cells of the bladder. Bladder cancer sign and symptoms, treatments The cardinal feature of bladder cancer is #Painless, intermittent, gross hematuria. #Frequency, pain, and burning on urination. #Sensation of incomplete bladder emptying. Some types of bladder cancer present similarly to a UTI with urgency, frequency, and dysuria. Usually located deep within the bladder, bladder cancer rarely presents as a palpable mass. Painless hematuria is usually the only sign of bladder cancer. Surgical treatment involves a transurethral resection of the tumor. Chemotherapy, immunotherapy, and radiation therapy are also used to eradicate the tumor or reduce tumor size. Radical cystectomy with urinary diversion may be necessary for very large invasive tumors. Cystitis (UTI) Lower urinary tract infection (UTI) is the most common urological disorder. Approximately 6 million visits to primary care clinicians each year are for UTI. Lower UTI, also referred to as cystitis. A bladder infection may cause

Pelvic pain

Increased urge to

urinate, # Pain with urination # Blood in the urine. A kidney infection may cause

Back pain

Nausea

Vomiting

Fever.

UTI , blood in urine - any bladder cancer correlation Unfortunately, the most common symptom of bladder cancer—blood in the urine—is also a common symptom of a UTI. Other UTI symptoms include irritation or pain when urinating or a frequent and urgent need to urinate and can also be symptoms of bladder cancer. Pyelonephritis Inflammation of the renal pelvis and the kidney Benign prostatic hyperplasia (BPH) — also called prostate gland enlargement =Transurethral ultrasound

potassium (electrolytes), that maintains the fluid balance in your body. Specific blood and urine tests can point to a diagnosis of diabetes insipidus, such as #A high sodium level (hypernatraemia) #High concentration of the blood (serum or plasma osmolality), #Low urine concentration (urine osmolality). Diabetes Insipidus Antidiuretic hormone is not secreted adequately, or the kidney is resistant to its effect. The serum sodium is often elevated due to excess free water losses. In diabetes insipidus, your blood glucose levels are normal, but your kidneys can't properly concentrate urine. Goiter / iodine relationship Iodine deficiency is the most common cause of goiter. The body needs iodine to produce thyroid hormone. Insufficient iodine in the diet causes the thyroid gets larger to try and capture all the iodine it can, so it can make the right amount of thyroid hormone. Signs and Symptoms of Hodgkins Lymphoma #Painless swelling of lymph nodes in the neck, #Armpits, or groin. #Persistent fatigue. #Fever. #Night sweats. #Losing weight without trying. #Severe itching. #Pain in lymph nodes after drinking alcohol. Electrolyte imbalance causing palpitations, diarrhea, muscle weakness Low Potassium (Hypokalemia) - Electrolyte imbalance causing palpitations, diarrhea, muscle weakness T4 cell - disease related to destruction - Human immunodeficiency virus (HIV) infection Cryoblation use. A procedure in which an extremely cold liquid or an instrument called a cryoprobe is used to freeze and destroy abnormal tissue. Cryoablation is sometimes used as a primary treatment for:

Bone cancer.

Cervical cancer.

Eye cancer.

HE4 biomarker Human epididymis protein 4 (HE4) is a protein that is produced by most, but not all, epithelial ovarian cancer cells. This makes the test useful as a tumor marker in specific circumstances. The HE4 test measures the amount of human epididymis protein 4 in the blood. Cranial nerves *I Olfactory -Sensory- Smell

*II Optic - Sensory - Vision *III Oculomotor - Motor - Extraocular movements (EOMs) and pupil response *IV Trochlear - Motor - EOMs *V Trigeminal - Mixed (motor and sensory)- Facial sensation, Masseter muscle control of chewing *VI Abducens - Motor - EOMs *VII Facial - Mixed (motor and sensory)- Facial expressions and taste over anterior two-thirds of tongue *VIII Auditory or Vestibulocochlear -Sensory- Hearing and equilibrium *IX Glossopharyngeal - Mixed (motor and sensory) -Elevation of pharynx in swallowing, taste over posterior one-third of tongue, and salivation *X Vagus - Mixed (motor and sensory) - Gag reflex and parasympathetic control of body

XI Accessory - Motor - Turn the head and shrug *XII Hypoglossal - Motor - Tongue movement Ischemic vs Hemorrhagic Stroke · Acute elevations in BP can cause the rupture of cerebral blood vessels or hemorrhagic stroke. · Although hemorrhagic stroke accounts for about 10% of all strokes , the mortality is very high. · Also, because HTN accelerates the formation of atherosclerosis, there is an increased risk of plaque formation in the cerebral arteries, which leads to thrombotic or embolic obstruction within the brain. This can be manifested by a TIA or ischemic stroke. · Antiplatelet agents, heparin, and warfarin can be used to prevent ischemic stroke. · Atrial Fibrillation can cause thrombus formation and embolism to the brain. It is a frequent cause of ischemic stroke. · Ischemic stroke occurs in up to 40% of patients. · An ischemic stroke is caused by a thrombus or embolus that lodges in a cerebral artery and blocks blood flow to the brain tissue. Ischemia of brain tissue leads to cerebral infarction, which is the death of brain cells. · A hemorrhagic stroke is caused by rupture and hemorrhage of a cerebral artery, leading to compression and toxicity of brain cells and loss of cerebral blood flow. Approximately 85% of strokes are due to ischemia, whereas 15% are hemorrhagic strokes (see Fig. 33-7). · Ischemic strokes result from an obstruction in cerebral blood flow by a thrombus or embolus. · A clot or thrombus that causes ischemic stroke commonly arises from one of three mechanisms: arteriosclerosis of a cerebral artery, atrial fibrillation. · Hemorrhagic stroke occurs when a cerebral artery ruptures and can no longer bring blood to the brain tissue. · The use of oral contraceptives , sickle cell disease, Carotid arteriosclerosis, is a risk factor, specifically for ischemic stroke. · The major predisposing factor of hemorrhagic stroke is hypertension. Signs and symptoms of cerebral contusion The signs and symptoms of a contusion include severe headache, dizziness, vomiting, increased size of one pupil, and sudden weakness in an arm or leg. The person may seem restless, agitated, or irritable. Often, the person has memory loss. These symptoms can last for several hours to several weeks, depending on the severity of the injury. As the brain tissue swells, the person may feel increasingly drowsy or confused. Vital signs may show decreased heart rate and decreased respirations and hypertension, which

What are some of the consequences of alcohol exposure in pregnancy? Exposure to alcohol during development decreases brain volume. Drinking alcohol of any kind during pregnancy can cause premature labor, miscarriage, stillbirth, and a range of developmental, physical, mental, and emotional disabilities and disorders in the baby, collectively referred to as fetal alcohol spectrum disorders (FASD). Signs of dehydration Extreme thirst Oliguria Headache Dark-colored urine Sluggishness and fatigue Bad breath Dry mouth Sugar cravings Dizziness, weakness, light-headedness Confusion Vitamin B12 deficiency causes #Atrophic gastritis #Pernicious anemia #Conditions that affect the small intestine, such as Crohn's disease, celiac disease, bacterial growth, or a parasite #Alcohol misuse or heavy drinking #Immune system disorders, such as Graves' disease or lupus #Certain medications that interfere with the absorption of B12 ; heartburn medicines including proton pump inhibitors (PPIs) such as esomeprazole (Nexium), lansoprazole (Prevacid), omeprazole (Prilosec OTC), pantoprazole (Protonix), and rabeprazole (Aciphex), H2 Blockers such as cimetidine (Tagamet) and famotidine (Pepcid AC); and certain diabetes medicines such as metformin (Glucophage).

Contusion vs concussion (I think the kid getting hit in the head with a chair question is

contusion). Know signs and symptoms for each. How do you tell them apart? Turner

syndrome (webbed neck, short stature, under-developed breasts)

Acid/base balance (hypoventilation, etc) I really only watched these two videos. They make

it super easy to understand!

Diabetes insipidus (normal glucose, hypernatremia, dilute urine, ADH, etc)

Goiter: relationship with iodine. Know treatment

Thyroid cancer: clinical question with a scenario. Know the signs/symptoms

Something like this: woman comes in for exam. Reports difficulty swallowing, odynophasia,

lump in throat.

Bladder cancer : Malignant cells present in urine. Painless hematuria.

Renal Cell Carcinoma: 90% of renal tumors.

Cryoablation: treatment for prostate cancer

PID (pain, foul odor, discharge)

HEP-4 --> ovarian cancer marker

Crohn's vs Ulcerative Colitis (generalized pain vs RLQ, which has mucous/blood (UC)

Gastroenteritis : Know it is an acute cause. Signs and symptoms

Hyperkalemia : what does it cause? Nausea, vomiting, etc

Pyelonephritis: Causes and treatment.

What falls under COPD umbrella (refractory asthma, chronic bronchitis, emphysema)

Silicosis (question said something about a guy using a sand blaster & finding a lung nodule)

Viral hemorrhagic fever ( spread by bats or rodents)

Know mitral valve regurgitation vs stenosis (think hypertrophy/heart failure/pulmonary

edema---> how does this happen?)

Know medication for ALS: Riluzole/Rilutek

Know expected assessment findings for Tay Sachs (progressive flaccid muscles,

seizures, blindness, etc)

What condition causes you to crave salt: Addison’s Disease

Know lymphedema/lymphadenitis

Vegetation causes endocarditis

What causes MI (block in blood flow)

Conditions of upper vs lower airway (pharingitis, laryngitis, asthma, bronchitis.

Pneumonia, tuberculosis-upper or lower?)

Strokes : hemorrhagic vs ischemic. (Ischemic is more common, aneurysm causes

hemorrhagic, blockage causes ischemic, (I picked hemorrhagic as more deadly and ischemic

has loss of consciousness but not sure if correct.)

Hypertension : Hypertensive urgency is systolic above 180. Leading cause of hemorrhagic

stroke. Causes no symptoms for a long time

Heberden and Bouchard’s nodes: Telltale/classic sign of osteoarthritis. Small bumps that grow on the joints especially the fingers.

FINAL PATHO EXAM LATEST, Exams of Pathophysiology

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