Muscle Weakness
Name the Muscular dystrophy that is resultant of a frameshift mutation in the Dystrophin Gene.
What is DMD? The key word was frameshift mutation. Becker's Muscular Dystrophy is due to a mutation in the Dystrophin gene but does not cause a frameshift mutation so there will be some dystrophin present. The frameshift mutation leads to no functional dystrophin present in the body. DMD has VERY high CK levels!
Obj. 8461
________ is a progressive, neurodegenerative disease of motor neurons and other neuronal cells and is 100% fatal.
What is ALS? This disease presents as painless, progressive muscle weakness with UMN and LMN dysfunction. There is muscle wasting due to a lack of muscle nourishment with resultant sclerosis and hardening of the lateral spine. Important to remember that there is NO DIAGNOSTIC TEST. It is based on excluding other diseases.
Obj. 8462
Define Podagra.
What is gout of the foot, especially the big toe? This is a big term that is on boards according to Dr. Russ.
iLAB
Pt has vasculitis that is present in low temperatures, Rf positive, and monoclonal. Identify the most likely cryoglobulinemia this pt has.
BONUS! Name the Ab present
What is Type II?
The vasculitis is present in low temperatures --> Cryoglobulinemia
Rf positive --> Type II or Type III
Monoclonal --> Type II
BONUS! Polyclonal IgG
Obj. 12116
Identify a behavior that is most improved with DBT over usual treatment.
What is Self-injurious behavior? DBT is an intensive combination of therapy that blends cognitive psychology, humanism, behaviorism, and Zen philosophies. It is indicated for those with chronic, pervasive, and unremitting emotional, interpersonal, and behavioral dysregulation. It can also be used with individuals that have chronic suicidality, BPD, and extensive trauma histories.
Obj. 9614
Identify the main clinical presentation of Fibromyalgia and how many of the 18 sites need to be painful for diagnosis.
What is "pain all over" that is poorly localized, difficult to ignore, severe in intensity, and associated with reduced functional capacity, and 11 out of 18 sites need to be painful? These sites are thought to have peripheral pain generators that serve as triggers for more widespread CNS pain.
Obj. 8464
Name the most common myopathy.
What is Hypercortisolemia? This will cause "moon facies", gynecomastia, abdominal stria, increased abdominal girth, osteoporosis, and susceptibility to ecchymosis.
iLAB
Identify the number of criteria that need to be positive to diagnose SLE and its treatment.
What are 4 out of 11 criteria and is treated with Hydroxychloroquine? These are some of the important things that Dr. Russ mentioned! A mnemonic is SOAP BRAIN MD!
Serositis, Oral and/or nasal ulcers, Arthritis, Photosensitivity, Blood disorders, Renal involvement, ANAs, Immunological phenomena, Neurological disorders, Malar or Discoid rash.
iLAB
Identify a major difference in inflammatory vs. non-inflammatory polyarthralgia in terms of timing.
What is inflammatory is worse with rest whereas noninflammatory is aggravated by motion? This is a great correlation to RA(inflammatory) and OA(noninflammatory).
Obj. 12114
Identify the three factors that interplay during walking.
What are the Osseous tripod of the foot, shoulder, and arm?
Obj. 8452
Identify the enzyme(s) deficient in Cori Disease.
What are glycogen debranching enzymes? These include alpha 1,6 glucosidase. It is basically a milder Von Gierke Disease and is differentiated by the increased limit dextrins, and normal lactate. Also, gluconeogenesis is spared in Cori Disease but not is Von Gierke.
Obj. 8461
Describe the pathophysiology of Myasthenia Gravis and if the symptoms improve with rest or activity.
BONUS! Identify the agent(s) that can be used to dx this pt.
What is Anti-AchRs Abs that decreases the number of AchRs available for Ach to bind and improves with rest? There is normal Ach release in the body, but due to the decreased available AchRs, they are unable to make an impactful action potential before they are broken down by Ach-esterases. Furthermore, due to the decreased efficacy of neuromuscular transmission and the normal rundown their are fewer and fewer muscle fibers recruited increased activity will just increase the problem, not reduce it.
BONUS! Achesterase inhibitor or ice packs are used to aid in diagnosis. There is also a test to induce ptosis by having the individual look up for a couple of seconds inducing fatigue.
Obj. 8463
Identify the disease that is classified as "can't see, can't pee, can't climb a tree".
What is Reiter Syndrome? This is a disease that includes symptoms of arthritis, uveitis, and urethritis.
iLAB
With sarcoidosis pathophysiology, identify the immunological "spearhead" of the disease(Th cells, Abs, cytokines?).
What is Th1 (CD4 T helper 1 cells)? This is straight from Dr. Benecia's Tophat on what to focus on.
iLAB
Define the general personality disorders in Cluster A.
What are schizotypical, schizoid, and paranoid? Cluster A is considered to be the "Weird" cluster. The other clusters are B (Wild) and C (Worried). I like to remember the clusters like:
Cluster A --> Cluster Alone
Cluster B --> Cluster Big shots
Cluster C --> Cluster Concerned.
Obj. 9612
19 y/o pt presents to the office with c/o muscle weakness in their shoulder and face only. Upon examination, the physician notices a winged scapula and a transverse smile. Based on these symptoms, identify the muscular dystrophy this pt has.
What is Facioscapulohumeral Dystrophy? This condition is due to DUX4 gene deletion and is an autosomal dominant (or sporadic) condition. Extramuscular manifestations include retinal vasculopathy and hearing loss.
Obj. 8461 and iLAB
Pt presents to the office for c/o myalgia and cramping. Pt states that after they exercise, they notice their urine darkens, but they do feel better after rest. When prompted, the individual discusses that even when they do light-intensity workouts, they feel as bad as they do during high intensity. Laboratory work indicates a normal blood glucose level, increased CK levels, and normal Lactate levels. Urinalysis showed no RBCs present. Name the myopathy that this pt is experiencing and its genetic pattern.
What is McArdle's Disease (Type V Glycogen Storage Disease) which is autosomal recessive? The clues in this prompt were, darkened urine without RBCs (myoglobinuria), improvement after rest(second-wind phenomenon), increased CK, and normal Blood sugar and lactate levels. This disease is due to a deficiency of muscle glycogen phosphorylase.
Obj. 8461
70 y/o pt presents to the office with c/o left knee stiffness in the morning lasting 30 minutes and pain/swelling at night, especially after a long day running errands. Laboratory results came back with no abnormalities. Name the treatment for this disease.
What are NSAIDs? This pt exhibits OA in their left knee with the morning stiffness lasting less than an hour, pain/swelling after a long day, and no autoantibodies present. Remember that NSAIDs are the mainstay of treatment for this disease per Dr. Russ
iLAB
Identify the benign bone tumor that has nighttime pain, arises from osteoblasts in cortical bone, forms Nidus, and improves with NSAIDs.
BONUS! Name the common location they arise in.
What is Osteoid Osteoma? Nighttime pain is key to osteoblastoma and osteoid osteoma as is their arising from osteoblasts. The key differences between an osteoblastoma and an osteoid osteoma are the NSAIDs' effectiveness, size, and location in the body.
BONUS! They commonly arise in the cortex of long bones.
Obj. 12117
Name the 6 major determinants of gait.
What are pelvic rotation, downward pelvic tilt, knee flexion of the swing leg, combined actions of the foot, ankle, and knee of the stance leg, and displacement of the center of gravity?
Obj. 8453
68 y/o male pt presents to the office for a check-up. Pt states that they recently had cataract surgery had has now begun to feel weakness in their forearms. Pt states that their family has an autosomal dominant trait for muscular dystrophy, but nobody has shown symptoms yet. Name the muscular dystrophy present in this pt.
BONUS! Name the gene mutated and the type of mutation.
What is myotonic dystrophy? Myotonic dystrophy is an autosomal dominant gene mutation that starts with distal muscle weakness that progresses to proximal muscle weakness. It also has features of cataracts, cardiomyopathy/arrhythmias, myotonia, and frontal balding. This question is similar to the one mentioned in class since it is a classic presentation of this disease.
BONUS! DMPK gene is mutated with a CTG trinucleotide repeat expansion.
Obj. 8461 and iLAB
55 y/o female presents to the office for progressive muscle weakness. Pt states that it is difficult to stand after sitting and has found new "red marks" on their knuckles and hand joints. Upon examination, it is found that the pt had a purplish rash on their eyelids. Identify the cause of this pt's muscle weakness and if it has an increased risk for malignancy.
What is Dermatomyositis which has a 20% increase of malignancy? This can be determined from the proximal muscle weakness, Gottron's papules (red marks on knuckles and joints), and Heliotrope rash (purplish rash on eyelids). They mentioned increased malignancy risk in iLAB.
Obj. 8460 and iLAB
Pt is a 68 y/o female that is in need of major surgery. PMHx includes an inflammatory joint disease (Anti-CCP positive) that starts in the morning when they wake up and take about 3 hours to improve. The pt's joint disease affects their bilateral PIPJs, MIPJs, and wrists. Before the pt goes in for surgery, name the test that needs to be completed.
What is a Cervical spinal XR? This pt has RA based on the symptoms in their history. One of the things mentioned in Dr. Russ's PPT was that if a pt has RA, they need a cervical spinal XR before major surgery.
iLAB
19 y/o pt presents to the office with c/o bone pain, swelling, and decreased ROM of their left knee. An XR was taken of the left lower extremity which indicated a "sunburst" pattern and Codman Triangles. The physician immediately sends this pt to get treatment for a tumor arising from osteoblasts with association to Li Fraumeni Syndrome and retinoblastoma. Identify the malignant bone tumor in this pt.
What is an Osteosarcoma? The "Sunburst" pattern on XR is a hallmark of this tumor as its association with Li Fraumeni Syndrome and Retinoblastomas.
Obj. 12117
Pt presents to the office for evaluation of a personality disorder. This individual has been unable to maintain any romantic partners for longer than 6 months, has felt chronically empty, has anger issues, and is very impulsive. Upon further discussion, it seems as if this pt goes through alternating extremes and has recurrent suicidal behaviors. Identify the cluster that this individual classifies under.
BONUS! Identify the personality disorder this pt exhibits based on the DSM5
What is Cluster B? This cluster involves dramatic or erratic behavior which is seen in this pt.
BONUS! This pt exhibits Borderline personality disorder based on the DSM5.
Objs. 9612 and 9613