Clinical Associations

Question 0

Nasal Polyps

Answer 0

Adults: Aspirin Intolerant Asthma (caused by decreased ratio of Prostaglandins (dilatory) to Leukotrienes (constrictor)) : 1) Asthma 2) Aspirin induced bronchospasms, 3) Nasal Polyps Kids: Test for cystic fibrosis

Question 1

Young woman presenting with exertional dypsnea

Answer 1

Pulmonary Hypertension with potential RV hypertrophy which could then lead to Cor Pulmonale Potentially from inactivating mutations of BMPR2, where you will see plexiform lesions on biopsy

Question 2

Neonatal respiratory distress syndrome

Answer 2

Inadequate surfactant levels; will see decreased granularity on chest xray premature babies, C-section babies (steroids aren’t there which drives release of surfactant), maternal diabetes (insulin)—from high blood sugar going into baby where extra insulin will be released Lecithin (phosphatidlycholine) :Sphyngomyelin ratio needs to be > 2:1 for healthy lungs hypoxemia=increases risk of PDA and necrotizing entercolitis (too little O2 to gut)

Question 3

Patient presents with non specific symptoms (cough weight loss hemoptysis and post obstructive pneumonia), chest x-ray comes back with coin lesion. What do you do?

Answer 3

First thing is compare with old x-ray to see if coin-lesion is stable. Next biopsy, looking for benign lesion (young ptns): 1) Granuloma (tb/fungus–especially Histoplasmosis in the midwest) 2) Bronchial Hamartoma—disorganized benign mass containing regional appropriate tissue–containing lung cancer and cartilage Carcinoma: 1) Small cell—“too small for surgical resection”: treated with chemo 2) Non-small cell carcinoma: surgically removed, doesn’t respond well to chemo

Question 4

Pneumonia, Dyspnea (SOB), and no organisms on a gram stain

Answer 4

Legionella Pneumophila

Question 5

Person on Warfarin comes in sick. What are you concerned with.

Answer 5

Treating with antibiotics kills gut microbiota. The gut microbiota are most responsible for making Vit K. Therefore with antibiotics and warfarin you can cause someone to bleed out.

Question 6

Pregnancy and Clotting

Answer 6

Can induce an Antithrombin III deficiency. Antithrombin is a non vitamin K dependent protease used to cleave Factors 10a and 2a. Deficiency causes increased coagulability (this will show up as heparin resistance in that her aPTT will not change with a heparin dose (should increase))

Question 7

Childpresents with harsh high pitched musical sounds noted on insipiration. Barking cough is confirmed. What do they have and whats it caused by?

Answer 7

Croup cough—Laryngotracehobronchtiits caused by PARAINFLUENZA VIRUS

Question 8

Pnt comes into ER with severe headache. Whats the process…

Answer 8

CT scan w/o contrast (to rule out intracranial hemorrhage, tumors, abscesses (encephalitis)). This is done before CSF to prevent risk of herniation which could result from intracranial pressure being relieved when you tap the SC.

Question 9

Older aged male comes in with rapid onset 10/10 chest pain, in which the pain radiates to his back within 10-15 minutes. Described as a ripping pain. What do you do? What are you suspecting?

Answer 9

Listen to his chest for signs of an aortic regurgitation which will confirm you suspicion of an Aortic dissection. Patient may display signs of Hypotension/Shock. Spiral CT of chest, TEE, MRI, Aortography. Aortic Dissection can cause Pericardial tamponade (tearing thru adventitia) and MI (blocking coronary sinus/ostia, stopping blood flow in the coronary arteries). So with MI dx don’t instantly rule out Aortic dissection, especially with rapid onset of sxs Pnts can have low back, falnk, abdominal or groin pain. Syncope or shock. Tall thin older males most common. Risk factors include Marfan’s syndrome, family h/o of aortic dissection, aortic valve disease, recent aortic manipulation, know throraic aortic aneurysm. 3 P’s of MI type chest pain (negative predicitve value) -Pleuritic -Positional Change (associated with pericarditis) -Palpation (hurts more when you press on it)

Question 10

Unexplained rise in diabetic patient (aka not diet related, like from having a big meal)

Answer 10

Think Illness—particularly systemic in nature from impaired glucose utilization at the cellular level that occurs with things like systemic shock possibly from increasing cortisol levels

Question 11

New Regurgitant Murmur AND Recurrent/unremitting fever….

Answer 11

ENDOCARDITIS until proven otherwise Infection of valves, mural endocardium, or septum (septal defect)

Question 12

Hypertensive Crisis (drug and diet combo)

Answer 12

MAO Is and Tyramine (meat and cheese) Tx is to use phentolamine–nonspecific alpha blocker

Question 13

Young person (child) with ischemic heart disease/coronary artery aneurysm

Answer 13

Kawasaki’s Disease, look for mucocutaneous lymph node syndrome Disese of medium sized vessels, histology will be similar to polyarteritis nodosa

Question 14

Person who is sick with splinter hemorrhages under nail bed

Answer 14

Bacterial ENDOCARDITIS

Question 15

IV drug user

Answer 15

Right sided heart disease by staph aureus Test for HIV

Question 16

Down’s Syndrome Associations:

Answer 16

Ostium Primum Defect: Atrial septal defect common in Down’s Syndrome (Ostium secondum is more common defect overall) Fixed Splitting of P2 (why?—–from pressure equalization in the Atria keeps fixed interval) Pardoxical emoblism—embolism that goes thru atrial septum and into systemic circulation Chromo 21: encodes APP: therefore they have a higher/earlier incidence of Alzhiemer’s Increased risk of Acute Leukemia: -Likely to get Acute Megakaryoblastic leukemia (form of AML; BEFORE 5yo) -Likely to get Acute Lymphoblastic Leukemia (usually AFTER 5yo).

Question 17

Down’s Syndrome Associations:

Answer 17

Ostium Primum Defect: Atrial septal defect common in Down’s Syndrome (Ostium secondum is more common defect overall) Fixed Splitting of P2 (why?—–from pressure equalization in the Atria keeps fixed interval) Pardoxical emoblism—embolism that goes thru atrial septum and into systemic circulation Chromo 21: encodes APP: therefore they have a higher/earlier incidence of Alzhiemer’s Likely to get Acute Megakaryoblastic leukemia (form of AML; BEFORE 5yo) Likely to get Acute Lymphoblastic Leukemia (usually AFTER 5yo).

Question 18

Maternal Diabetes?

Answer 18

Transposition of the Great arteries. Treatment? Prostaglandin E which kEEps open the PDA

Macrosomia

Neonatal Respiratory Distress Syndrome: high blood sugar causes increased insulin and insulin inhibits surfactant production. (hypoxemia increases risk for PDA remaining and necrotizing enterocolitis)

Poorly controlled Diabetes: Caudal Regression syndrome (severe spina bifida with sirenomelia (“mermaid”)

Question 19

Boot shaped heart on xray

Answer 19

Tetralogy of Fallot Associated with Chromosome 22 abnormalities (including DiGeorge Syndrome: “CATCH 22”)

Question 20

Coarctation of the aorta? Two Types and syndrome associated with it

Answer 20

Infantile: Before PDA; associated with Turners syndrome Adult: after PDA—asscoiated with HTN from decreased Renal perfusion–>RAAS=HTN; also associated with Bicupsid aorta (aortic stenosis)–even more LVH; HTN upper extremities, HOTN in lower extremities; engorged intercostal arteries=notching of ribs (under each rib Horshoe kidney, hashimotos thyroiditis, webbed neck

Question 21

Coarctation of the aorta? Two Types and syndrome associated with it

Answer 21

Infantile: Before PDA; associated with Turners syndrome Adult: after PDA—asscoiated with HTN from decreased Renal perfusion–>RAAS=HTN; also associated with Bicupsid aorta (aortic stenosis)–even more LVH; HTN upper extremities, HOTN in lower extremities; engorged intercostal arteries=notching of ribs (under each rib Horshoe kidney, hashimotos thyroiditis. Widley spaced nipples

Question 22

Kid with Cardiac Tumor (most likely cause and associated with)

Answer 22

Rhadomyoma, associated with Tuberosclerosis (multiorgan benign tumors) TSC triad: Skin Lesions, Epilepsy, Cognitive Disabilties

Question 23

HIV Patient

Answer 23

Karposy Sarcoma, Pneumocystis Carinii (PCP) of lungs, Toxoplasmosis=Ring enhancing lesions, crescent shaped microorganisms (parasites) and necrosis

Question 24

Sarcoidosis

Answer 24

Middle Aged African American, CXR: Hilar Adenopathy, Pulm Infiltration, Uveitis, Erthryma Nodosum, Cardiomyopathy, CNS/PNSopathies, Hypercalcemia

Question 25

Systolic Murmur with a history of abnormal Movements

Answer 25

Rheumatic Fever: Chronic=Regurg, Acute=Stenosis; Movements=Synedhams Chorea

Question 26

2-3 month old with fungal infection

Answer 26

Chronic Granulomatous disease -first 2-3 months kids is protected thru maternal IgG -Defect in Respiratory burst (NAPDH dependent, superoxide dysmutase used to created HOCL in phagolysosomes in granulocytes). -Usually X-linked mutation in gp91 PHOX –Will get Catalase Positive or fungal Infections Dx with Nitroblue tetrazolium (won’t turn black in disease)

Question 28

Diabetic Patient with Fungal infection

Answer 28

Might have myeloperoxidase deficiency (usually assymptomatic but with DM you get sxs) Impaired neurtrophils

Question 29

Young baby/Child with catalase positive infections or fungal infections

Answer 29

Think Severe Combined Immunodeficiency (x ADA) Diagnose with Nitroblue tetrazolium test. Tx: Antibotics, antifungals, and Interferon gamma (helps stim granulocytes killing)

Question 30

Mediastinal Masses

Answer 30

4 Ts: Teratomas Thymomas Thyroid Carcinomas Terrible Lymphomas

Question 31

Child Presenting with Edema

Answer 31

Check urine for nephrotic syndromes: Minimal Change disease, or Focal segmental glomerulosclerosis

Question 32

Left Sided Varicocele on guy

Answer 32

Associated with Renal Cell carcinoma. Left testicular vein drains to Renal Vein, unlike R which drains directly to IVC. RCC has a predilction ot invade the renal vein

Question 33

Patient with loss of smell and absent puberty

Answer 33

Kallman’s Syndrome: Hypogonadotropic hypogonadism. GnRH cells embryologically start in the olfactory placode, and fail to migrate. Have smell and puberty issues. X-linked in men, AR in women. “say Kallman’s nasally to remind you the mechainism”

Question 34

Post partum women presents to ER with nausea, vomitting and double vision. What is her condition and what do you need to give?

Answer 34

Sheehan’s Syndrome (Pituitary Apoplexy)—pituitary increases in size during pregnancy and then blood loss during pregnancy causes infarct/bleeding in pituitary. Need to give glucocorticoids and thyroid hormone to prevent death.

Question 35

Psammoma bodies found in?

Answer 35

“think squishy type of tissues” Papillae necrose and then calcify. Endometrial Carcinoma serous type (and of ovary) Thyroid papillary carcinoma mesothelioma menignioma (PSMM: Papillary thyroid carcinoma, Serous cystadenoma of ovary, MEsotheelioma, malignant menigioma)

Question 36

Patient comes in with paroxysmal episodes of headaches, sweating, and pounding heart beat. Pnt is HTN, and white face. What is the condition and how do you treat?

Answer 36

Pheochromocytoma: 6 p’s Pallor (SNS vasconstriction), persperation, palpiations, pain (H/A), Pressure (HTN). ABCs: Alpha Blockers FIRST (phenoxybenzamine), Beta blockers second, Cut it out. NB: Unopposed alpha activation = HTN crisis (why you give alphas before betas)

Question 37

Multiple Endocrine Neoplasias 1, 2a, 2b(also called 3) Symptoms of each?

Answer 37

1: 3P’s 0M’s: -Pituitary, Pancreas, Parathyroid Cancers 2a: 2Ps 1M: -Parathryoid, Pheo, Medullary Carcinoma of Thyroid 2b: 1P Pheo, Medullary Carcinoma of thyroid, Neoganliomas MEN2=mutation in RET. MEN1/2a=high PTH thus hypercalcemia, hypophosphatemia (bone resorp is from increased OSTEOBLAST activation which then activates the CLASTS) Nb: Medullary Carcinoma of thyroid is cancer of C (chief) cells thus secreiting Calcitonin (causing amyloid deposits; calcitonin opposes PTH, thus it causes lowering of ), and sometimes somatostain, serotonin, Vasoactive intestinal peptide

Question 38

Family History of Hearing loss and hematuria (potentially vision issues as well)

Answer 38

Alport syndrome–defect in type 4 collagen causing kidney, ear, and eye issues (x-linked/auto rec/auto dom). ESRD ~30yo

Question 39

Conditions Associated with Metabolic Acidosis

Answer 39

MUDPILES Methanol, Uremia, DKA, Paraladehyde/Phenformin, Iron/Isonazid, Lactic Acidosis, Ethylene Glycol, Salicylic Acid

Question 40

Patient is dehydrated and has a headache. They take Advil. What are they at risk for and what is the cause?

Answer 40

Acute Renal Failure. Dehydration causes the arterioles to clamp down trying to increase perfusion, then by inhibiting PG’s (normally open up arterioles) you get too much vasoconstriction and thus you get ischemia to kidneys

Question 41

Patient comes in with Tetany, short stature, and shortened 4th and 5th digits. What do they have?

Answer 41

Pseudohypoparathyroidism (Albright’s Hereditary Osteodystrophy)—AutoDom broken kideny PTH. Thus kidneys dump Calcium=Hypocalcemia=Tetany.

Question 42

Patient comes in with Dysphagia and has recently been to central america

Answer 42

Achalsia due to Chagas Disease (Trypanosoma Cruzi Infection). Achalasia is inabilty to relax the lower esophageal sphincter so you get a bird beak sign on barium swallow. Increased risk for esophageal squaomus cell carcinoma. High LES presure on esophageal manometry

Question 43

Patient presents with new onset cardiac symptoms and asthma

Answer 43

Always rule out cardiac signs first, but after that consider “heartburn”= GERD that can cause Barrett’s esophagus (nonkeratinizing squamous cell metaplasia to noncilliated columnar metaplasia WITH GOBLET CELLS****). Risk for metaplasia–>Dysplasia–>ADENOcarcinoma (NOT squamous cell carcinoma)

Question 44

Patient presents with pain after eating (epigastric that radiates to the back), with foul smelling diarrhea and a history of alcoholism

Answer 44

Chronic Pancreatitis causing the steatorrhea

Question 45

Kid appearing sick from viral illness. What don’t you give? You however you need to give this if it is a mimicing disease?

Answer 45

Don’t give aspirin, risk of REYE’s syndrome (hypoglycemia, elevated liver enzymes, nausea, vomitting, coma and death).

Need to give aspirin in Kawasaki’s (vasculitis affecting coronary arteries in child, with rash on hands and feet, conjunctivits and fever)

Question 46

Child Presents with:

bruised blue spots, cataracts, deafness, and cyanotic spells. What condition do they have?

Answer 46

Congenital Rubella (German Measles=Togavirus; “Germans Party hard wearing togas”)

Hematogenous spread across placenta.

Blueberry muffin appearance, **PDA, **Pulm A stenosis (Tet of Fallot), microcephaly, cataracts, deafness.

“no problem showing PDA for my blueberry muffin with rubella jam”

Question 47

Young adult female presenting with anemia and heavy mensces

Answer 47

Think von Willebrand Factor deficiency.

Girl cuz Hemophillia A (F8 def) is X-linked thus female is very unlikely/mild presentation

Question 48

What is Specialized transduction?

What bacterial factors associated with it

Answer 48

Lysogenic phage when infecting new bacteria incorporates new gene into bacterial genome.

“ABCDE”

shigA-like toxin (EHEC)

B-otulism toxin (some strains)

C-holera toxin

D-iptheria toxin

E-rythrogenic toxin of strept pyogenes

Question 49

Neonatal Resp Distress Syndrome

Answer 49

Lack of surfactant production, can be causes by maternal diabetes (high blood sugar–>high insulin–l surfactant).

Hypoxia leads to Patent DA remaining, and necrotizing enterocolitis.

Supplemental O2 causes free radical damage of retina (blindness) and lung (bronchopulmonary dysplasia)

Question 50

Cranofacial Abnnormalities, Posterior fossa deficits, abnormalities of the great vessles, hearing issues?

DD?

Answer 50

DiGeorge’s, Vitamin A overdose

Question 51

Carinomas that like to spread to blood?

Answer 51

1) RCC to renal veins
2) HCC to hepatic vein
3) Follicular Carcinoma
4) Choriocarcinoma

Question 53

Kid with Enlarged tongue, floppy baby, and umbilical hernia?

Answer 53

Hypothyroidism (can see mild jaundice too)

Question 54

Most common cause of bacterial meningitis in adults?

Answer 54

Lancet Gram positive Cocci in pairs (strep pneumonia)

Question 55

Patient presents with butt/legs getting skinnier and abdominal fat growing:

2 conditions?

Answer 55

Fat Redistribution syndrome: cushionoid body type (buffalo hump, androgen fat pattern, poor metabolic profile)

1) Cushings syndrome: too much cortisol (usually from too much ACTH)
2) Lipodystrophy: Protease inhibitors (for a person on HAART tx for HIV)

Question 56

Gingivival Hyperplasia?

Gingivostomatitis?

Answer 56

Phenytoin, Scurvy, Cyclosporine, Tacrolimus, Verapmil, Nifedipine

HSV-1

Question 57

Decreased Proprioception and diminished reflexes in CF patient? Why?

Answer 57

Vitamin E def from poor fat absorption from Panc issues

Vit E protects cells with high fat content from Oxidative damage (ie myelinated cells)