1
Q
A 25-year-old man complains of a scrotal mass and pain made worse by coughing or sneezing. A scrotal exam reveals a palpable scrotal protrusion with Valsalva.
What type of hernia is this patient experiencing?
What type of hernia protrudes through Hesselbach’s triangle?
What structures form Hesselbach’s triangle?
A
Inguinal Hernia - Lateral to the inferior epigastric vessels
Direct Inguinal hernia - Medial to the inferior epigastric vessels, (through Hesselbach’s triangle)
Hesselbach’s triangle:
- Inferior epigastric artery
- Lateral border of the rectus abdominis
- Inguinal ligament
2
Q
A 30-year-old African-American woman develops heavy menses and develops fatigue as a result. She is found to have anemia, and further work-up reveals an abnormality in her uterus.
What is the most common gynecologic neoplasm?
What is the typical histological pattern?
Is it benign or malignant?
A
- Leiomyoma (fibroid)
- Smooth muscle bundles in different directions (whorled pattern)
- Benign - do not progress to leiomyosarcoma
3
Q
What are the different paranasal sinuses?
Treatment of allergic rhinitis, nasal polyps, and Eustachian tube dysfunction?
A
- Maxillary sinuses
- Frontal sinuses
- Ethmoid sinuses
- Sphenoid sinuses (behind eyes)
Intranasal steroids
- Fluticasone
- Triamcinolone
- Budesonide
4
Q
Derivatives of the 1st Branchial arch?
A
M and T structures
CARTILAGE
Meckel’s cartilage -
- Mandible
- Malleus, Incus
- spheno-Mandibular ligament
MUSCLES
**Muscles of Mastication - **
- teMporalis
- Masseter
- lateral and Medial pterygoids
- Mylohyoid
- anTerior belly digastric
- Tensor Tympani
- Tensor veli palatini
5
Q
Derivatives of 2nd Branchial arch?
A
2 “S” structures
CARTILAGE
Reichtert’s cartilage:
- Stapes
- Styloid process
- leSSer horn of hyoid
- Stylohyoid ligament
MUSCLES** **
- *“Smile!” *Muscles of facial expreSSion
- Stapedius
- Stylohyoid
- poSterior belly of digastric
6
Q
$ Aortic arch derivatives
A
- part of MAXillary artery (“first arch is MAXimal”
- Stapedial artery and hyoid artery (“Second = Stapedial)
- common Carotid artery and proximal part of internal carotid (“C is 3rd letter of alphabet)
- on left, aortic arch; on right, proximal part of right subclavian artery (“4th arch - 4 limbs = systemic”
- NONE
- proximal part of pulmonary arteries and (on left only) ductus arteriosus (6th arch = pulmonary and the pulmonary-t-systemic shunt (ductus arteriosus)
7
Q
A 24-year-old woman reports having two miscarriages over the past 6 months and has been trying to become pregnant over the past year.
What embryological structural abnormalities might account for her multiple miscarriages?
What structures arise from the paramesonephric ducts?
What other name is given to the paramesonephric ducts?
A
- Incomplete fusion of the paramesonephric ducts (bicorruate uterus)
- Arise from the paramesonephric ducts - Fallopian tubes, Uterus, Upper 1/3 of vagina
- Paramesonephric ducts = Mullerian ducts
8
Q
What is the adult remnant of the following fetal structures?
Gubernaculum (female)
A
Ovarian ligament + round ligament of uterus
9
Q
What is the adult remnant of the following fetal structures?
Processus vaginalis (male)
A
Tunica vaginalis
10
Q
What is the adult remnant of the following fetal structures?
Foramen ovale
A
Fossa ovalis
11
Q
What is the adult remnant of the following fetal structures?
Notochord
A
Nucleus pulposus
12
Q
A 24-year-old G1P0 complains of shortness of breath and chest pain. You are concerned that she might have a pulmonary embolism because she has an elevated D-dimer. She is a poor candidate for a pulmonary CT angiography because she is allergic to contrast dye. The patient undergoes a V/Q scan to determine if the cause of her symptoms is due to a pulmonary embolism.
If it is determined that she does have a pulmonary embolism, what is the standard treatment?
A
- IV Heparin
- Low-molecular weight heparin (enoxaparin)
- Both work by binding to antithrombin
- If past history of HIT - use Lepirudin, Bivalirudin
13
Q
Define the following:
Gravidity
Parity
A
- G= Total number of pregnancies
- P = Types of deliveries
- “TPAL” -
- Total term deliveries (37-42 weeks),
- Preterm deliveries (20-37 weeks),
- Abortion (any pregnancy ending before 20 weeks),
- Living children
14
Q
A 33 year old male crashed his bicycle on a mountain trail. During the crash he landed on the lateral aspect of his leg. Now he has foot drop.
Which nerve was injured?
A
Common Peroneal Nerve
- Branch off sciatic nerve that originates from L4/S1
- Descends down lateral aspect of knee and commonly injured in trauma to lateral leg, especially if fibular neck fracture
(Common Fibular Nerve)
15
Q
A 43-year-old man presents with visual difficulties and decrease in libido. The patient reports that he is unable to see in the outer half of both sides of his visual fields. A brain MRI reveals a tumor.
Would you expect the patient’s GnRH to be decreased or increased?
This tumor will often cause infertility. What is the role of LH and FSH in spermatogenesis?
What is an easy way to remember which cells LH and FSH stimulate during spermatogenesis?
A
Pituitary hormone in excess that can cause hypogonadism = prolactinoma
- Excess prolactin inhibits the production of GnRH –> low FSH and LH*
- *↓GnRH**
LH stimulates testosterone production in Leydig cells
FSH stimulates the Sertoli cells to produce androgen-binding protein –> Keeps testosterone levels high in seminiferous tubules
FSH also stimulates sertoli cells to produce inhibin –> negative feedback to inhibit FSH production
_L_H - _L_eydig cells
F_S_H - _S_ertoli cells
16
Q
The body uses both the cell-mediated and humoral immune response to fight infection. Which T cell type regulates the humoral response?
A
- Th2 cells augment the humoral response - generate IL-4, IL-5 promote growth and differentiation of B cells
- Th1 cells augment the cell-mediated response (cytotoxic T cell response) by generating IL-2 and INF-γ (inhibits Th2 cells)
17
Q
Which antifungal drug fits the following description?
swish and swallow for oral candidiasis (thrush)
A
- Nystatin (topical only)
- MOA - Binds ergosterol -> forms membrane pores that allows leakage of electrolytes
18
Q
Which antifungal drug fits the following description?
side effect: nephrotoxicity
A
- Amphotericin B
- MOA - a polyene that binds ergosterol -> forms membrane pores that allow leakage of electrolytes
19
Q
Which antifungal drug fits the following description?
deposits in keratin-containing tissue (nails)
A
- Griseofulvin
- MOA - interferes with microtubule function; disrupts mitosis
20
Q
Which antifungal drug fits the following description?
used for cryptococcal meningitis in AIDS
A
- Fluconazole because it can cross the blood brain barrier (MOA: inhibits fungal sterol, ergosterol synthesis by inhibiting the P-450 enzyme that converts lanosterol to ergosterol) SE: azoles also inhibits human P-450, testosterone and cortisol synthesis
- Intrathecal amphotericin B (MOA: “tears” holes in fungal membran by forming pores after binding to ergosterol)
21
Q
Which antifungal drug fits the following description?
side effect: teratogenic, carcinogenic
A
- Griseofulvin
- MOA: Interferes with microtubule function; disrupts mitosis; increases P-450
- remember P450 inducers: BCCG PQRS
22
Q
MOA of Caspofungin
Use?
A
- an Echinocandin
- Inhibits cell wall synthesis by inhibiting synthesis of beta-glucan
- Invasive aspergillosis (“Casp for Asp”)
- Candida
23
Q
MOA Flucytosine
A
- Fucks up DNA synthesis by conversion to
- 5-Fluorouracil by cytosine deaminase
- Poor funghi can’t make pyrimidines required to make nucleic acids
24
Q
A 43-year-old man complains of excessive daytime sleepiness. The patient complains of having hallucinations just before sleep onset. The patient has normal polysomnography testing. You are concerned this patient might have narcolepsy.
What are some other features seen with narcolepsy?
What is the treatment for narcolepsy?
A
- Patient goes from wakeful state directly to REM
- Excessive daytime sleepiness
- Cataplexy - A transient attack of extreme generalized muscular weakness, often precipitated by an emotional state such as laughing, surprise, fear, or anger.
- Hypnagogic/hypnopompic hallucinations
Treatments:
- Amphetamines (MOA - stimulate release of NE from noradrenergic nerve terminal)
- Modafinil (Provigil) (MOA - (1)inhibits reuptake dopamine by binding to dopamine reuptake pump, (2) activates glutamatergic circuits, (3)inhibits GABA)
- Sodium oxybate (GHB) - assists in sleep and reduces cataplexy (unknown MOA some evidence that activation of GHB receptor in brain results in glutamate release)
- Gamma hydroxybutyric acid (GHB) street name “Juice, Liquid Ecstasy, “G” used as date-rape drug
25
**$$$ A 40-year-old man arrives at your clinic for his first physical in twenty years**. He reeks of cigarette smoke and you notice his jacket bears the logo of his favorite tobacco company. He proudly informs you that he got this great jacket by redeeming his cigarette cartons.
**At what stage of change in overcoming his smoking habit is this man?**
* **Stage 1 - _Precontemplation_**: Do not realize there is a problem **(he is in stage 1, wearing a cigarret company jacket like a _fucking moron_, doesn't realize the problem**)
* **Stage 2 - Contemplation**: Acknowledge that there is a problem
* **Stage 3 - Preparation**: Ready to change
* **Stage 4 - Action:** executing change that they think they need to make
* **Stage 5** - **Maintenance**
* **Stage 6** - **Relapse**
26
What is the initial medical treatment for the arrhythmia known as torsades de pointes?
2 electrolytes most commonly implicated in arrhythmias are:
* **Magnesium** - Push IV Magnesium Sulfate
* **Potassium**
*First step here btw would be ACS protocol and Torsades is V-tach, requires defibrillation*
27
A newborn is noted to have cyanosis, which prompts echocardiography that reveals transposition of the great vessels.
**What substance should be given when a newborn is diagnosed with transposition of the great vessels to maintain a shunt?**
Prostaglandin **PGE2** - keep vessels open
Prostaglandins PGE2 and PGF2a:
* Reduce bronchial tone
* Increase uterine tone
* Reduce vascular tone
28
In regard to seizures, what do the terms partial, simple, complex, and generalized mean?
**Partial:** One area of the brain is having seizure activity, usually temporal lobe which is most eleptogenic part of brain
* **Simple:** consciousness is intact
* **Complex:** impaired consciousness
**Generalized:** diffuse involvement (partial can become generalized)
29
**A G1P1 woman presents to the minor emergency room with her newborn.** She is very concerned about her yellow baby.
## Footnote
**As you are conducting your exam, you recall that the underlying cause of physiologic jaundice in the newborn is what?**
**How is it treated?**
Neonatal Jaundice
► Elevated **unconjugated (indirect) bilirubin**
► Deficiency of **UDP-glucuronyl trasferase** - conjugates bilirubin to make it water soluble so it can be secreted into the bile
► Takes 14 weeks before this enzyme reaches adult levels
► Treatment: **Phototherapy (bili lights)** - convert unconjugated bilirubin into water soluble isomer
30
Name the syndromes below that are common causes of anovulation:
**Elevated cortisol, central obesity**
Cushing syndrome
31
Name the syndromes below that are common causes of anovulation:
**Amenorrhea + hirsutism + obesity**
Polycystic ovarian syndrome (PCOS)
32
What medications are used in the treatment of urge incontinence?
Anticholinergics causing urinary retention
* Oxybutynin
* Tolterodine
* Darifenacin
* Solifenacin
* Trospium
33
**A 23-year-old man comes to your clinic with a fever \>39°, a headache, and myalgias.** This is the second fever he has had in the last two weeks. He recently finished treatment to eradicate the lice infestation that he acquired during a recent trip to Mexico.
## Footnote
**What organism might be responsible for this man’s recurrent fever?**
***Borrelia recurrentis*** - uses lice as a vector
► **Recurrent fevers** - ability to alter proteins expressed on surface -\> keeps generating immune responses that trigger fever
► Classic symptoms: **Sudden fever, chills, headaches, muscle/joint aches, nausea, rash**
► Symptoms last **2-9 days** then disappear and cycle repeats
► Most patients improve within 24 hours after starting antibiotics
34
**You are treating a 7-year-old girl with a sulfa allergy for cystitis.** Fluoroquinolones can be used for cystitis but why would this not be a good choice for your patient?
**What are the common bacteria that cause cystitis and what class of antibiotic could you use for this patient?**
*Cystitis* - inflammation of the urinary bladder
► Theoretical risk of **cartilage damage**
► ***E. coli*** - most common, 80% of UTIs
* *S. saprophyticus*
* *K. pneumoniae*
* *Enterococcus*
* *P. mirabilis*
* Indwelling catheter: *P. aeruginosa*
► Rx: **TMP-SMX,** but if sulfa allergic
* Amoxicillin
* Cephalexin
* Nitrofurantoin
35
**A HIV-positive patient begins to experience paresthesias associated with “piercing” and “shooting” episodes of pain.** Physical examination reveals globally decreased deep tendon reflexes, a positive Romberg test, and non-reactive pupils.
**What is the cause of the patient’s symptoms?**
**What is tabes dorsalis and what part of the spinal cord is damaged in this condition?**
**_Neurosyphilis_** - tertiary syphilis infection involving the CNS
► Gait/balance problems
► Abnormal reflexes
► Confusion
► Dementia
► Headaches
► Incontinence
► Numbness
► Seizures
► Tremors
► Visual disturbances
► Argyll-Robertson pupil - non-reactive to light, but reacts to accommodation
* *_Tabes Dorsalis_** - Gradual progressive demyelination of dorsal columns (proprioception, vibration, fine touch) and dorsal roots
- Positive Romberg test (loss of proprioception)
- Painful paresthesias
- Ataxia/broad-based gait
36
The thalamus is a relay station that conducts signals to and from the brain. Which thalamic nuclei are the relay stations for each of the following body sensations/activities?
**Auditory sensation**
Medial geniculate nucleus
37
The thalamus is a relay station that conducts signals to and from the brain. Which thalamic nuclei are the relay stations for each of the following body sensations/activities?
**Visual sensation**
Lateral geniculate nucleus
38
The thalamus is a relay station that conducts signals to and from the brain. Which thalamic nuclei are the relay stations for each of the following body sensations/activities?
**Motor to the body**
**Ventral anterior nucleus**
39
The thalamus is a relay station that conducts signals to and from the brain. Which thalamic nuclei are the relay stations for each of the following body sensations/activities?
**Facial sensation**
**Ventral posteromedial nuclei**
40
The thalamus is a relay station that conducts signals to and from the brain. Which thalamic nuclei are the relay stations for each of the following body sensations/activities?
**Body sensation**
**Ventral posterolateral nuclei**
41
**A 21-year-old woman with Epstein-Barr virus (EBV) presents with fatigue, a petechial rash and anemia.**
**Which drugs are known to cause aplastic anemia?**
**What is the treatment for aplastic anemia?**
► **Anti-cancer drugs
► Chloramphenicol
► NSAIDs
► Propylthiouracil
► Methimazole**
► Radiation
► Benzene
**Rx: Stop the causative agent!**
* replace deficient cells (RBCs, platelets),
* G-CSF to raise the WBC count,
* Bone marrow transplant may be indicated
42
What is the equation for determining a drug’s clearance?
CL = rate of elimination of a drug/plasma drug concentration
**CL = [0.7 x Vd]/t1/2**
43
What Antimuscarinic agent(s) can be used for each of the following clinical scenarios?
**Parkinson disease**
Benztropine
44
What antimuscarinic agent(s) can be used for each of the following clinical scenarios?
**COPD**
* **Ipratropium** (Atrovent) half life of 2 hours
* **Tiotropium** (Spiriva) half life of 5-6 days
45
What antimuscarinic agent(s) can be used for each of the following clinical scenarios?
**Peptic ulcer disease**
Methscopolamine
Propantheline
(both rarely used)
46
What antimuscarinic agent(s) can be used for each of the following clinical scenarios?
**Motion sickness**
**Scopolamine** (transdermal patch behind ear)
47
What antimuscarinic agent(s) can be used for each of the following clinical scenarios?
**Urge incontinence**
► Oxybutynin
► Tolterodine
► Darifenacin
► Solifenacin
► Trospium
48
What problem/abnormality is associated with each of the following buzzwords for congenital disorders?
**Boot-shaped heart**
Tetralogy of Fallot
49
What problem/abnormality is associated with each of the following buzzwords for congenital disorders?
**Continuous machine-like murmur**
Patent ductus arteriosus (PDA)
50
What problem/abnormality is associated with each of the following buzzwords for congenital disorders?
**Webbing of the neck**
**Turner syndrome (girl with XO)**
*"hugs and kisses XO from tina TURNER"*
51
What problem/abnormality is associated with each of the following buzzwords for congenital disorders?
**Barr body**
* Inactivated X chromosome in all females, but in males it is seen in
* **Klinefelter syndrome (XXY genotype)**
52
What problem/abnormality is associated with each of the following buzzwords for congenital disorders?
**Simian crease**
Down syndrome (Trisomy 21)
53
A patient has frothy urine and edema. Lab analysis reveals massive proteinuria. What is the most common cause of this problem in adults? In children?
**Nephrotic syndrome**
* Protein in urine
* Edema (low albumin)
* Hypercholesterolemia
**Adults: Focal segmental glomerulosclerosis**
(used to be membranous nephropathy)
**Children: Minimal change disease**
54
What medications are commonly used for the treatment of insomnia?
* *► Melatonin** (OTC)
* *► Antihistamines** - very poor sleep quality, not good for long term use
* *► Trazodone** - increases REM sleep
* *► TCAs** - amitriptyline, but small risk of arrhythmias with these drugs, very dangerous in overdose
* *► Long-acting benzodiazepines** - temazepam or lorazepam, potentially addictive, recommended only for short term use (\<35 days)
* *► Zolpidem** (Ambien) - DOC, act at benzodiazepine receptor, less potential for addiction, rebound insomnia. Controlled release available for long term use
* *► Zaleplon** (Sonata) - DOC, act on benzodiazepine receptor GABAA
**► Eszopiclone** (Lunesta) - GABAA
► **Ramelteon** (Rozerem) - acts on melatonin receptor
55
Efficacy of hypnotic-sedative agents
**► Zaleplon** (Sonata) reduces sleep latency most (over zolpidem), no effect on sleep architecture, shortest half life (1 hour)
**► Zolpidem** (Ambien) second best for reducing sleep latency, little affect sleep architecture, half life 2-3 hours. Longer acting than Zaleplon
**► Eszopiclone** (Lunesta) - questionable efficacy, longer half life (6hrs),SE bitter metallic taste, decreased libido
**► Ramelteon** - SE hyperprolactinemia, teratogenic in rats
**► Benzos**: Disrupt sleep architecture, better for frequent waking during night
►**Antihistamines** ie diphenhydramine: Disrupt sleep architecture the most, reduce REM sleep, very poor sleep quality, long half life (9-12 hours), short term memory loss
56
**A 75-year-old woman begins to experience a new-onset right-sided headache, visual disturbance and pain when chewing food.**
**What diagnosis does this presentation suggest?**
**What lab test would assist with the diagnosis of this presentation?**
**Temporal arteritis (giant cell arteritis)**
* Headache
* Jaw claudication
* Vision loss
**Erythrocyte sedimentation rate (ESR)**"sed rate" If normal, r/o TA, if sed rate elevated, need to do temporal artery biopsy to make definitive diagnosis
57
**A chronic alcoholic with cirrhosis begins to experience a tremor and blurred vision.** You feel like these symptoms might be due to his progressive liver disorder and associated with hyperammonemia.
**What is another hereditary cause of hyperammonemia?**
**What are some other findings with hyperammonemia?**
**Ornithine Transcarbamoylase Deficiency** - X-linked recessive disorder
**Hyperammonemia** - Tremor, Slurred speech, Somnolence, Vomiting, Cerebral edema, Blurred vision
58
**A 25-year-old man has a painless, enlarged cervical neck mass.** Work-up reveals Hodgkin lymphoma.
**What are other signs/symptoms typical of the presentation of a patient with Hodgkin lymphoma?**
► Reed Sternberg cells ("owl's eyes")
► "B symptoms" (fever, night sweats, and weight loss)
► Mediastinal lymphadenopathy
► 50% cases associated with EBV
► Bimodal age distribution
► Occurs more often in males - except nodular sclerosing type
► Best prognosis w/ more lymphocytes, worse with RSCs
59
**Perimenopausal symptoms are frequently treated with hormone replacement therapy (HRT).**
**Why is progesterone added to estrogen HRT formulations?**
**Unopposed estrogen stimulation can lead to two specific endometrial diseases. How would these two diseases most commonly present?**
**How is bone health affected by HRT?**
► Progesterone is added to prevent unopposed estrogen
► Endometrial hyperplasia
► Endometrial cancer
► Most common presentation: Vaginal bleeding
► HRT helps prevent age-related bone loss
60
From where does the amygdala receive inputs? To where does it send output?
_**► Limbic cortex
► Neocortex**_
* Parietal, temporal, and occipital lobes
* Especially from Auditory and visual association areas
**_► Amygdala output_**
* Cortical areas which it receives inputs
* Hippocampus
* Septum
* Thalamus
* Hypothalamus
61
Which penicillin fits the following description? Often the drug of choice against Enterococcus sp.
Ampicillin, amoxicillin (more effective gram (-) coverage)
62
Which penicillin fits the following description? Effective against Pseudomonas sp.
Ticarcillin, carbenicillin, piperacillin
63
Which penicillin fits the following description? Good for otitis media because it covers Strep. pneumoniae and H. influenza
Ampicillin, amoxicillin
64
Which penicillin fits the following description? Associated with interstitial nephritis
**Methicillin, nafcillin, dicloxacillin**
65
Which penicillin fits the following description? Associated with rash (especially in patients with mononucleosis)
Amoxicillin, ampicillin
66
**A 23-year-old woman thinks that she might have an STD because she noticed gray vaginal discharge over the past two days.** You inspect the vaginal fluid under a microscopic and it reveals bacteria covering vaginal epithelial cells. When you tell her she has vaginosis she asks you if it is an STD.
**Which drug would you use to treat this infection?**
**What are the sexually-transmitted bacterial causes of vaginal discharge?**
**What are the bacterial causes of vaginal discharge that are not sexually transmitted?**
**Gardnerella vaginalis** (bacterial vaginosis) seeing "clue cells" Caused by overgrowth of bacteria in vagina
Metronidazole
* Neisseria gonorrhoeae
* Chlamydia trachomatis
* Trichomoniasis
* Gardnerella vaginalis
* Mobiluncus
* Bacteroides
* Mycoplasma
67
**A 17-year-old woman comes to the ER with abdominal pain and vomiting.**
What hormone is detected in a positive urine pregnancy test?
How long after conception will this hormone first appear in the urine?
* β-hCG
* 2 weeks after conception
68
**A 50-year-old woman is diagnosed with Alzheimer’s disease (AD).** Family history investigation reveals that several family members are affected with relatively early AD.
**What gene might the members of this family share?**
**Which trisomy syndrome is also associated with an increased risk of contracting AD?**
► **FAD gene** (mutated APP gene on chromosome 21)
► **Presenilins** - PS-1 most common on chromosome 14, AD
* **_PS-1_** isHighly penetrant, causes AD by age 60, often by age 50 or earlier, Average age of 45 with 6-7 year course
* **_PS-2_** is less common, slightly less horrible, average onset of age 53 with 11 year decline
► **APOE4 gene** is **late onset gene**
► **Down syndrome (trisomy 21)** manifest in 4th decade of life
69
What is the ileocecal valve?
Valve at the junction of cecum and colon, guards area where ilium enters colon. Meckel's diverticulum are often located within 2 feet of this valve.
70
A 1-year-old child is evaluated for painless, rectal bleeding. What is the rule of 2s associated with Meckel’s diverticulum?
What is it? Where is it located?
How is it diagnosed?
► 2 **inches** long
► 2 **feet** from ileocecal valve
► 2**% of population**
► First 2 **years** of life
► 2 types of **epithelia**: gastric and pancreatic
Located in **distal ileum**, a vestigal remnant of **omphalomesenteric duct**
Diagnosed with **technetium-99m (99mTc) pertechnetate scan**
71
What is the antidote for tPA or streptokinase overdose?
Aminocaproic Acid
72
**A 1-year-old boy is brought to the clinic for evaluation of his skin. The patient’s skin was normal at birth but now is erythematous, scaly, and has many new freckles.** Work-up and an astute attending reveal that this child has xeroderma pigmentosum.
What cancers will this child be at higher risk of contracting?
Skin Cancer
* **Melanoma**
* **BCC**
* **SCC**
Defect in **nucleotide excision repair**
73
**The mother of a pediatric patient you are evaluating states her child’s urine appears dark brown when she changes his diaper.** Furthermore, you notice the patient has bilateral dark pigmented sclera.
**What disease could account for these physical findings?**
**What is the cause of this disease?**
* **Alkaptonuria**
* Defect in gene for **homogentisic acid oxidase**
* Cause: inborn error in metabolism
74
**A 24-year-old G1P0 is in for a routine third-trimester prenatal evaluation.** The patient is without complaints today but exhibits a blood pressure of 150/92, 2+ proteinuria and facial edema.
**Would these symptoms be indicative of preeclampsia or eclampsia?**
**Although this patient is without complaints, what are some symptoms that patients might complain of with pregnancy-induced hypertension?**
**What factors increase a woman’s risk of developing pregnancy-induced hypertension?**
**What is HELLP syndrome?**
**Preeclampsia**
► 2 separate readings taken at least 6 hours apart with BP ≥ 140/90 mmHg
► \>20 weeks of gestation
► No previous hypertension
► Proteinuria \>300 mg/24 hours
**Symptoms of pre-eclampsia**
► Blurred vision
► Headache
► Abdominal pain
► Edema
► Altered mental status
► Hyperreflexia
*Lab values showing thrombocytopenia means things are getting a lot worse!*
**Factors that increase risk **
► Diabetes
► Multiple gestations
► Pre-existing hypertension
► Renal disease
► Autoimmune disorders
**HELLP Syndrome**
* *_H_**emolysis
* *_E_**levated **_L_**FTs
* *_L_**ow **_P_**latelets
75
What are the 5 stages in Maslow’s Hierarchy of Needs?
1. **Physiological need**s - food, sleep, sex
2. **Safety** - Shelter, house, property
3. **Love and belonging** - friendship family, sexual intimacy
4. **Esteem** - confidence, respect by others, achievement
5. **Self-actualization** - morality, creativity, problem solving, lack of prejudice, acceptance of facts
76
What primary hormone is increased or decreased in the following diseases?
**Cushing’s syndrome**
↑cortisol
77
What primary hormone is increased or decreased in the following diseases?
**Conn’s syndrome**
↑aldosterone
↓renin
78
What primary hormone is increased or decreased in the following diseases?
**Addison’s disease**
↓aldosterone, ↓cortisol
79
What primary hormone is increased or decreased in the following diseases?
**Graves’ disease**
**↑T3/T4**
80
What is the difference between **variable expression, incomplete penetrance, heteroplasmy, pleiotropy, and anticipation?**
► **Variable expression** - Different expression of the disease phenotype
► **Incomplete penetrance** - mutant allele isn't expressed in some affected individuals
► **Pleiotropy** - Inherited gene can affect the phenotype in more ways than one
► **Anticipation** - Disease phenotype becomes more severe with each successive generation
**►****Heteroplasmy**- mixing more than one type of organellar genome (mitochondrial DNA mtDNA), a factor for the severity of mitochondrial diseases like**Leber optic atrophy** (degeneration of retinal ganglion cells)
