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Mutation of phenylalanine on chromosome 7
Mutation of Chromosome 17
Autosomal dominant, neuromas, scoliosis, cafe-au-lait spots, Lisch nodules, associated with tumor suppressor gene on Chromosome 17.
Neurofibromatosis Type I
Autosomal dominant, mutation on chromosome 4, CAG repeats
Hemangioblastomas of CNS and retina, bilateral renal cell carcinoma, tumors of adrenal glands and pancreas. Autosomal dominant.
von Hippel-Lindau disease
von Hippel Lindau disease is an error on which Chromosome?
This cofactor for cystathionine synthase can be supplemented to decrease the severity of homocystinuria.
Rapidly progressive cresentic glomerulonephritis - begins with hemoptysis and ends with rapid renal failure.
What types of cells are malignant in ALL and CLL?
What does a positive Coombs test reveal?
Autoimmune hemolytic anemia
CLL with anemia, an elevated recitulocyte count and a positive Coombs test: what is associated with his anemia ?
Scoliosis is named for the side of the convexity or the side of the "rib hump". Which side is levoscoliosis, which side is dextroscoliosis? What is a structural and what is a functional curve?
- Levo - left
- Dextro - right
- Structural curve - does not improve with sidebending
- Functional curve - improves with sidebending
What Cobb's angle's compromise respiratory function but not cardiac? What Cobb's angle compromises cardiac function?
- > 50 - compromises respiratory function
- > 70 - compromises cardiac function
This parasite is transmitted from eggs found in dog feces and is responsible for large, locular cysts found in the liver and brain. They can rupture and cause anaphylaxis
How do you treat Echinococcus granulosus?
Albendazole 0 it's a worm
Left sided heart progresses to right sided heart failure. What is the disease? Systemic HTN leads to increased afterload resulting from left-sided heart failure. When blood backs up from the left atrium into the lungs, pulmonary hypertension occurs putting excess strain on the right ventricle. This is "Eisenmenger's Syndrome"
Congestive Heart Failure
This drug given for CHF binds the Na+/K+ pump which drives more Ca+ into the cell through the Na+/Ca++ exchanger. Hypercalcemia increases its toxicity.
This drug increases survival in patients with CHF by blocking the productionof angiotensin II which leads to a decrease in aldosterone secretion, increasing the risk of hyperkalemia
What are the must-know things about ACE inhibitors?
1) cough and angioedema are possible side-effects 2) they can cause hyperkalemia 3) they increase survival in congestive heart failure 4) they are contraindicated in bilateral renal artery stenosis because they exacerbate renal failure in these patients, 5) they can slow the progression of diabetic nephropathy
Adrenal hemorrhagic necrosis and failure caused by meningococcemia, shock, hyponatremia and hyperkalemia. Associated with DIC. Low aldosterone and high renin levels.
Waterhouse Friderichsen Syndrome
Which dermatome impacts Waterhouse Friderichsen syndrome?
T10 - Kidneys and Adrenal glands
Hemorrhagic necrosis of the adrenal cortex
Patients with Cystic Fibrosis can develop what due to chronic destruction of the pancreas?
Insulin dependent diabetes
What is the most common antibody found in the serum of a neonate (when not breastfeeding)?
IgM from the neonate itself
This disease presents in adulthood as enlarged bones with lytic and sclerotic lesions due to defective bone remodeling.
High Alk Phos, increased osteoclast and blast activity
Paget's disease of the bone
what does high levels of Alk Phos indicate?
high bone turnover.
Paget's disease of the bone increases your risk of what disease?
Creutzfeldt-Jakob Disease is a degeneration of the _. rapid decline, spongiform encephalopathy
Entire cerebrum, not just one lobe.
In patients with ulcerative colitis, what cause of RUQ pain and jaundice is most frequently seen?
Primary Sclerosing Cholangitis
What is the most common disc herniation in the neck and what nerve root does it affect?
this nerve root in involved in:
this nerve root is involved in:
sensation to 3rd finger, motor to elbow extension and wrist flexion
this nerve root provides sensation to the fourth and fifth fingers and motor to finger flexion
this nerve root is responsible for finger abduction/adduction and provides sensation to the medial arm
this nerve root controls the brachioradialis DTR and motor innervatio for elbow flexion and wrist extension, plus sensation in thumb and index finger
acute pyelonephritis in a pregnant woman can lead to what?
preterm labor, intrauterine infection
this disease, recognized by sustained muscular contractions is associated with a CTG repeat expansion that occurs due to instability during maternal meiosis. Autosomal dominant. Anticipation is noted in tri-nucleotide repeats.
Falling onto an outstretched hand will cause the radial head to move _
How do you treat a posterior radial head with muscle energy?
move the arm into supination (the radial head moves posterior when pronated)
The thoracodorsal nerve innervates what muscle that can be paralyzed during an axillary dissection?
Latissimus dorsi - adduct, medially rotate and extends the arm.
Long standing chronic hypertension often leads to LVH and the back up of the blood into the lungs results in:
Hemmosiderin Laden Macrophages
known as "heart failure cells"
blood backs up into lungs and macrophages clean it up
What drug class interferes with ergosterol synthesis, and what drug class binds to ergosterol and forms pores in fungal cell membranes?
Synth - Azoles
Pores - amphotericin B
PCOS presents with hirsutism, amenorrhea, acne and elevated LH and FSH. It is associated with an increased risk for what disease?
Type II diabetes
parasite transmitted by the black fly, endemic to Africa/South America, causes adult worms that invad belood and lymphatics forming nodules and invading the eye causing iriditis and uveitis.
How do you treat it?
Tx: Ivermectin (worm)
What vector transmits Leishmania donovani? How do you treat it?
Child taken off breast milk has vomiting and sweating when eating formula. Low glucose in blood. Name disease, elevated substance in blood, deficiency of what? How do you treat?
Deficiency: aldolase B
Elevated fructose-1-phosphate in blood
Remove fructose, sucrose and sorbitol from diet
In a normal distribution the mean, median and mode are what?
How do you treat Gonorrhea?
What artery divides around the levator scapulae (medial shoulder blade) at the superior angle and descends along the medial aspect?
Dorsal Scapular artery
What artery supplies the supraspinatus and infraspinatus muscles?
What nerve roots innervate the levator scapulae?
Dermatitis herpetiformis is associated with what condition? Describe the pathology.
IgA antibodies deposited in the skin
What deficiency causes SCID? What deficiency causes Tay Sachs?
- SCID - adenosine deaminase
- Tay - Hexosaminidase A
This disease is associated with thymoma or hyperplasia of the thymus
Describe the difference between Heparin and LMWH for thrombus prevention in pregnant women.
Heparin binds antithrombin III and requires monitoring.
LMWH predominantly binds factor Xa and does not require monitoring
At what week in gestation does the bronchial tree and type II pneumocytes start to develop?
This disease is characterized by mental retardation, recurrent seizures, partial albinism and red/brown papules on the nose, cheeks and chin. It is autosomal dominant.
What 3 processes are seen with this disease?
- cardiac rhabdomyoma
Name the Autosomal Dominant Diseases
MAN HNT FV
- Marfan's Disease
- Neurofibromatosis 1
- Huntington's Disease
- Neurofibromatosis 2
- Tuberous Sclerosis
- Familial Adenomatous Polyposis
- von Hippel-Lindau Disease
A patient presents with a history of chronic inflammation (RA), edema, hypercholesterolemia, and massive proteinuria. What is happening in her kidneys?
Neprotic syndrome - scarring - amyloidosis.
what is nephrotic syndrome?
Edema, hyperlipidemia, hypoalbuminemia and massive proteinuria.
What diseases is renal amyloidosis associated with? How do you stain for it?
- Rheumatoid arthritis
- multiple myeloma
Congo red with apple-green birefringence under light microscopy.
Differentiate between Apo A1, B48, B100, CII and Apo E.
- A1 - LCAT cofactor - form cholesterol esters
- B48 - chylomicrons - LDL receptors on hepatocytes
- B100 - LDL/VDL/IDL - LDL receptors on hepatocytes
- CII - lipoprotein lipase in endothelial blood vessel tissue pull lipids out of chylo and VLDL into tissues
- E - LDL receptors on hepatocytes
What type of hemorrhage is typically associated with ADPKD?
bleeding between pia and arachnoid "worst headache of my life"
Know the leading causes of death for all age groups:
Age < 1: congenital anomalies, short gestation, SIDS, maternal complications, unintentional injury
Age 1-4: unintentional injury, congenital anomalies, homicide, malignant neoplasms, heart disease
Age 5-9: unintentional injury, malignant neoplasms, congenital anomalies, homicide, heart disease
Age 10-14: unintentional injury, malignant neoplasms, homicide, suicide, congenital anomalies
Age 15-24: unintentional injuries, homicide, suicide, malignant neoplasms, heart disease
Age 25-35: unintentional injuries, suicide, homicide, malignant neoplasms, heart disease
Age 35-44: unintentional injury, malignant neoplasms, heart disease, suicide, HIV
Age 45-54: malignant neoplasms, heart disease, unintentional injury, liver disease, suicide
Age 55-64: malignant neoplasms, heart disease, chronic lower respiratory disease, unintentional injury, diabetes mellitus
Age 65+: heart disease, malignant neoplasms, cerebrovascular disease, chronic lower respiratory disease, Alzheimer disease
Name the H2 blockers for peptic ulcer disease
Sacral flexion is referred to as _. It happens in the craniosacral phase of _?
Think of it as "nodding"
Craniosacral Extension - Sacrum nutates.
what is the initial insult triggering diabetic nephropathy?
child presents with larynx inflammation, subglottic swelling, inspiratory stridor and a barking-like-a-seal cough. What is the diagnosis?
Croup or laryngotracheobronchitis
what microbe causes croup?
If Specificity and Sensitivity are given to you, how can you determine the false negatives or positives?
SeNsitivity is 1 - False Negatives
SPecificity is 1 - False Positives
How does Nitric Oxide help a patient with angina?
decreases preload by leading to venous dilation
The median nerve innervates what OAF muscles?
opponens pollicis, abductor pollicis brevis and flexor pollicis brevis
what is the best way to diagnose carpal tunnel syndrome?
nerve conduction study - gold standard
Name the adrenal deficiency: low sex hormones, high mineralocorticoids, hypertension and hypokalemia
How is 17 alpha hydroxylase deficiency different than 21 hydroxylase deficiency?
21 hydroxylase - HIGH sex hormones, low aldosterone (hypotension)
17 alpha hydroxylase - LOW sex horones, high aldosterone (hypertension)
disease associated with proximal muscle weakness caused by antibodies to pre-synaptic calcium channels that inhibits the release of acetylcholine. Gets better with use. Associated with SMALL cell carcinoma.
lambert Eaton syndrome
Which type of Osteogenesis is the most severe form? Usually the baby is delivered with many fractures, blue sclera and die early.
what sensory deficit is associated with osteogenesis imperfecta?
Osteogenesis imperfecta is an autosomal _ disease?
what kind of cranial dysfunction is most likely to occur from a blow to the back of the head?
Chronic gastritis is associated with what diagnostic endoscopic finding?
An ulcer with irregular heaped-up margins and necrosis describes _ ulcers which are associated with high intracranial pressure (cushing ulcers), NSAIDS, severe burns, and shock. They are common in ICU patients.
An ulcer with irregular margins and necrosis is the gross description of a _ ulcer.
Enlarged rugal folds are associated with _ and _ diseases.
Menetrier and Zollinger-Ellison
A teen mother brings her 5-month-old male infant to the community clinic. Since birth, he has become progressively and increasingly lethargic. He takes no interest in feeding, frequently "spits up," and has very little active muscle movement. Records indicate that the child was born by spontaneous vaginal delivery with Apgar scores of 9 and 9. Upon examination, the child is noted to have a 30-second seizure-like spasm, and his wet diaper has a sweet odor. What is the disease? What is the deficiency? What is the amino acid that builds up?
Maple Syrup Urine Disease
branched-chain alpha-keto acid dehydrogenase deficiency. Increased levels of leucine (and other branched chain amino acids)
Maple Syrup Urine Disease is an autosomal _ disease.
A 30-year-old athletic female presents to her local orthopedist. The patient has been seen in this clinic multiple times for various musculoskeletal complaints. However, this time the patient has no history of trauma, repetitive overuse, or any true reasoning behind the discomfort she is experiencing in her right shoulder, arm and hand. The patient complains of vague symptoms including pain, numbness, tingling and cooling sensation in her entire right upper extremity. The patient had an extensive neurologic and radiographic workup that was all negative from another physician. On exam the patient has normal deep tendon reflexes, negative Spurling’s maneuver, negative Speed’s test and a positive Adson’s test. On osteopathic structural evaluation the physician finds a restricted right sterno-clavicular joint and an inhaled right first rib. What is the disease? Which of the following osteopathic manipulative techniques would this patient most likely respond to?
This is Thoracic Outlet Syndrome
An 86-year-old female being treated in the hospital for pneumonia receives a CT scan of the chest which reveals a nodule in apex of her right lung. Subsequent biopsy reveals the diagnosis of small cell carcinoma. The patient’s family asks that the patient not be told of this diagnosis as it will only cause her to be depressed.Which of the following is the most appropriate course of action?
Ask the patient directly if she would like to know her diagnosis.
A 12-year-old boy with kyphoscoliosis is taken to his pediatrician's office by his mother because he has been falling over while walking, stumbling and staggering. The boy has nystagmus and his toes look like they have been “hammered in.” What trinucleotide repeat is associated with the patient's most likely diagnosis? What is the diagnosis?
What trinucleotide repeat is associated with CAG?
What trinucleotide repeat is associated with CGG?
What trinucleotide repeat is associated with GAA?
What trinucleotide repeat is associated with CTG?
What is an EGD?
A 43-year-old female presents with a “lump” in her neck. Palpation reveals a solid mass overlying the thyroid. A laboratory work-up is performed which reveals high levels of calcitonin. Which of the following is the most likely diagnosis?
Medullary carcinoma of the thyroid
This is the most common type of thyroid cancer and is often due to radiation exposure. It is associated with the formation of psammoma bodies which are calcified cancer cells within the follicles.
Papillary carcinoma of the thyroid
This involves neoplastic transformation of thyroid follicles and may become invasive and spread hematogenously.
Follicular carcinoma of the thyroid
This involves the replacement of normal thyroid tissue with fibrous tissue which can result in hypofunctionig of the gland.
A high calcitonin level is associated with _ carcinoma of the thyroid, due to the proliferation of parafollicular C-cells which secrete calcitonin. Medullary carcinoma is also associated with the endocrine disorders MEN-2a and MEN-2b.
A 50-year-old obese male with type two diabetes presents with excessive daytime somnolence. A sleep study is confirmatory for obstructive sleep apnea. The following are the most likely risk factors causing this disorder:
hypothyroidism, large neck circumference, obesity
What long term complications are associated with Ulcerative Colitis? What are associated with Crohns?
UC - Primary Sclerosing Cholangitis, Toxic Megacolon, Colon Cancer
Crohns - Gallstones, B12 deficiency (megaloblastic anemia)
A 24-year-old female presents to the free clinic with complaints of genital burning, frequency in urination, and increase in vaginal discharge. She is currently 9-weeks pregnant and has a long history of sexually transmitted diseases. She denies any drug allergies. He current diagnosis can often be asymptomatic in women. What is her diagnosis. What drug should she be given?
(remember the teratogenic list when answering these questions)