Академический Документы
Профессиональный Документы
Культура Документы
Characterized by the presence of BOTH upper and lower motor neuron lesions
UMN lesions symptoms include: spasticity, bulbar symptoms, and HYPERreflexia
LMN lesion symptoms include: fasciculations, HYPOreflexia, atrophy
NOTE: weakness and muscle wasting can occur in both upper and lower motor neuron
lesions
Beta-blocker overdose
Presentation is: bradycardia, AV block, hypotension, and diffuse wheezing
o Hypotension and bradycardia can lead to cardiogenic shock
o Other effects include hypoglycemia, bronchospasm (via blockade), and
neurological dysfunction (e.g. delirium, seizures)
1 step is to secure airway and give isotonic fluid bolus and IV atropine
st
Hordeolum (stye)
An acute inflammatory disorder of the eyelash follicle or tear gland that presents as an
erythematous, tender nodule at the lid margin
o Often due to an infection with S. aureus but it can be sterile
Similar process arising in the meibomian gland = internal
o Presents as a tender nodule visible at the palpebral conjunctiva but more rare
Tx is with a warm compress, will accelerate process of rupture
o For those with persistent hordeolum (>1-2 weeks), can do incision & curettage
Lacunar infarcts occur due to occlusion of deep penetrating arteries in the brain
These vessels are located in highly turbulent of the cerebrovascular system and are
most susceptible to vascular disease (e.g. HTN, DM, hyperlipidemia, and smoking)
Underlying pathology is a combination of microatheroma formation and lipohyalinosis
o Ultimately leads to thrombotic small-vessel occlusion
Commonly in the internal capsule and may lead to pure motor hemiparesis
o Due to injury of the corticospinal (posterior limb) and corticobulbar (genu)
tracts
Patients will typically have weakness equally involving the CL face, arm, and leg
SVC syndrome is a condition arising from an SVC obstruction impeding venous return
S/S include: dyspnea, venous congestion, and swelling (of head, neck, and arms)
MCC is malignancy (i.e. lung cancer, non-Hodgkin lymphoma)accounts for >60% cases
CXR can identify cause >80% of cases
o Any abnormalities warrant f/u with chest CT and histology (to determine tumor
type and guide therapy)
Disseminated MAC
Presents with nonspecific systemic symptoms including: fever, cough, abdominal pain,
diarrhea, night sweats, weight loss
o Patients will also have splenomegaly
Labs will reveal an elevated ALP (reflecting MAC hepatosplenic involvement)
Diagnosis is made through blood cultures
Treatment (first-line) includes clarithromycin or azithromycin
Patients with a CD4 < 50 should receive azithromycin prophylaxis
Common causes of pleural effusions
Transudative
o CHF
o Cirrhosis
o Nephrotic syndrome
o Peritoneal dialysis
Exudative
o Infections
o Malignancy
o CT diseases
o Inflammatory disorders
o Movement of fluid from abdomen pleural space
o Coronary artery bypass surgery
o Pulmonary embolism (usually)
Exudative effusions typically have the following characteristic (via Lights criteria)
Pleural fluid protein / serum protein ratio > 0.5
Pleural fluid LDH / serum LDH > 0.6
Pleural fluid LDH > 2/3 of UL of normal serum LDH
pH difference:
o Normal = 7.60
o Transudative = 7.40-7.55
o Exudative = 7.30-7.45
Asterixis is the flapping movement of hands occurring w/ wrist extended & arms stretched
Common causes include: encephalopathy (uremic and hepatic) as well as hypercapnia
Should treat underlying cause
Hemi-neglect syndrome
Patient will neglect one side depending on which parietal cortex affected
For example:
o If insult is on left parietal, patient will neglect right side and vice versa
Opioid intoxication
S/S include: decreased mentation, HYPOrespiration, miosis, bradycardia, decreased
bowel sounds, and hypothermia (or normothermia)
Workup will include:
o ABG looking for respiratory acidosis
o Glucose can have hyperglycemia
o Other drugs
o ECG prolonged QTc in methadone overdose
Treatment is with naloxone
o ABCs!!
o If patient is hypothermic and does NOT respond to naloxone, consider external
warming
Cor pulmonale
Common etiologies include: COPD (most common), interstitial lung disease, pulmonary
vascular disease, OSA
Symptoms include: DOE, fatigue, lethargy as well as exertional syncope (due to
decreased CO) and exertional angina (due to increased myocardial demand)
Examination will reveal:
o Peripheral edema, and increased JVP, loud S2, a pulsatile liver, as well as TR
Imaging will include:
o ECG, showing partial or complete RBBB, RAD, RVH, right atrial enlargement
o Echo, showing pulmonary HTN, dilated RV, TR
o R cath, showing right ventricular dysfunction, pulmonary HTN, and no left heart
disease
Pulmonary systolic pressure >25 mmHg
Angiotensin II
Causes numerous effects, including:
o Vasoconstriction of BOTH afferent and efferent glomerular arterioles
Resulting in increased renal vascular resistance
A net decrease in renal blood flow
o Preferential vasoconstriction of efferent renal arteriole
Resulting in increased intraglomerular pressure (in attempt to maintain
GFR)
o Direct stimulation of Na+ resorption in proximal tubules and increased
aldosterone secretion from adrenal glands
Leads to decreased sodium delivery to distal tubule
An increase in extracellular fluid volume
Will have increased levels in RAAS activation
o I.e. decompensated CHF decreased renal perfusion
Dermatitis herpetiformis
Autoimmune dermal reaction due to dietary gluten
o commonly associated with celiac disease
Present with clusters of pruritic papules and vesicles on the elbows, knees, back, and
buttocks
Further studies
o Immunofluorescence shows deposits of anti-epidermal transglutaminase IgA in
the dermis
o Skin biopsy shows supepidermal microabscesses at the tips of dermal papillae
Management is with dapsone and gluten-free diet
Disseminated histoplasmosis
Epidemiology: seen in the Midwest (Ohio & Mississippi River Valleys)
o Contamination by bird or bat droppings
Symptoms include: systemic (fever, chills, malaise), weight loss, pulmonary s/s, and
mucocutaneous lesions
Labs can include: PANcytopenia, transaminitis, as well as increased LDH & ferritin
CXR will show reticulonodular or insteritial infilitrate
Dx is best confirmed with serum or urine Histoplasma antigen
Tx is with itraconazole (mild) as well as ampho B (mod)
Blastomycosis
Epidemiology: endemic to the Great Lakes, and Mississippi and Ohio River basins
Is a pulmonary fungal infection that can present with fever, night sweats, cough, and
weight loss (TB-like)
o If systemic, can results in skin involvement and lytic bone lesions
Sputum culture will reveal broad-based budding yeast
Treatment is with itraconazole or amphotericin B
Crohns disease
Involvement:
o Extending from mouth to anus, the rectum usually spared, perianal disease, will
have skip lesions
Microscopy will show noncaseating granulomas
Gross features include: transmural inflammation, linear mucosal ulcerations,
cobblestoning, and creeping fat
Complications include: fistulas, strictures, and abscesses
Patients with resistant HTN (uncontrolled despite 3-drug regiment) should be evaluated for
renovascular disease
Other times include when there is onset of severe HTN after age 55 or if there is severe
HTN w/ diffuse atherosclerosis
Patients with renovascular disease will often have asymmetric renal size and can have
an abdominal bruit auscultated
Lab results include an unexplained rise in Cr after starting ACEi or ARBs
Imaging can show an unexplained atrophic kidney
Adrenal insufficiency
Primary
o Presents with: hypotension, hyperpigmentation, hyponatremia, hyperkalemia,
eosinophilia, markedly elevated ACTH, and low serum cortisol levels
o The MCC = autoimmune adrenalitis
Responsible for >80% of patients with primary adrenal cortical
insufficiency
Approximately 50% of patients with Addisons disease have AI diseases
involving other endocrine glands
o Labs will show decreased cortisol, increased ACTH, and decreased aldosterone
Central
o Presents with: less severe symptoms than primary (e.g NO hyperpigmentation,
NO hyperkalemia, and possible hyponatremia)
o MCC = chronic glucocorticoid therapy
Following GC discontinuation, normal HPA axis functioning may not fully
return for up to 6-12 months
o Labs will show decreased cortisol, decreased ACTH, and normal aldosterone
Brown-Sequard syndrome
Disorder occurs when there is an injury of a hemisection of the spinal cord and will have
symptoms of:
o Ipsilateral hemiparesis
Lateral corticospinal tract
Occurs at the level of the cord injury and below
o Ipsilateral diminished proprioception, vibratory sensation, and light tough
Dorsal columns
Occurs at the level of the cord injury and below
o Contralateral diminished pain and temperature
Lateral spinothalamic tract
Tends to occur 1-2 levels BELOW cord injury because LST decussates 1-2
levels above entry point for corresponding sensory neuron
Multiple Myeloma
Will present with osteolytic lesions, anemia, HYPERcalcemia, and renal insufficiency
Has an IgG M spike
Peripheral smear will show rouleaux formation
BMB will show >10% clonal plasma cells
Urine will have Bence-Jones proteins
Waldenstrom macroglobulinemia
A plasma cell malignancy characterized by excessive IgM antibody production
o Will show a sharp IgM spike similar to MM spike
Will present with hyperviscosity syndrome, neuropathy, bleeding, HSM, and LAD
BMB will show >10% clonal B cells
Nephrotic syndrome
Defined as heavy proteinuria (>3.5g/day) along with hypoalbuminemia and edema
o Other findings include hyperlipidemia and increased lipids in urine
o Hypoalbuminemia can lead to volume overload periorbital edemia,
peripheral edema, and ascities
Types and their clinical associations
o FSGS african americans & Hispanics, obesity, HIV, IVDA
Considered the MCC of nephrotic syndrome
o Membranous nephropathy adenocarcinoma (e.g. breast, lung), NSAIDs,
hepatitis B, SLE
Is the 2nd MCC of nephrotic syndrome
o MPGN hepatitis B & C, lipodystrophy
o Minimal change NSAIDs, lymphoma (e.g. Hodgkin)
More common among children
o IgA nephropathy URI infections
Thyroiditis
Chronic AI/Hashimoto
o Patient will have predominant hypothyroid features and a diffuse goiter
o Labs will reveal high TSH as well as positive TPO antibody
Variable radioiodine uptake
Painless/Silent
o Considered a variant of chronic autoimmune
o Patients will have a small, nontender goiter along with a brief hyperthyroid
phase
o They may have positive TPO antibody
o Will have a low radioiodine uptake (vs Graves = diffuse uptake)
o Can be seen postpartum
Subacute (aka de Quervain)
o Patients will have a painful/tender goiter along with elevated ESR & CRP
o It is likely postviral inflammatory process and patients will have a fever
Bacillary angiomatosis
Etiology
o Organism Bartonella henselae
o Caused by cat exposure or lice (risk factor = homelessness)
o High risk in severely immunocompromised (e.g. HIV CD4 < 100)
S/S can include:
o Vascular cutaneous lesions that are popular, nodular, and peduncular
o Systemic signs including fever, night sweats, fatigue
o Can cause diffuse organ involvement, such as liver, bone, and CNS
Diagnosis is with a lesional biopsy along with microscopy / histopathology
Treatment is with doxycycline or erythromycin and possible antiretroviral therapy
Esophagitis in HIV
Candida albicans white plaques, oral thrush
HSV round/ovoid ulcers & herpetic vesicles
CMV typically distal esophagus, deep linear ulcers
Idiopathic/apthous concurrent oral apthous ulcers
Metabolic alkalosis
o Saline-responsive
o Will have lower urinary chloride (<20)
o Commonly due to loss of gastric secretions that results in ECF loss
Results in increased renal MC levels, increased renal sodium, and
chloride reabsorption
Patients will typically develop volume depletion
End results
decreased urine chloride, hypokalemia, metabolic alkalosis
o Usually corrects with isotonic saline infusion
Will restore BOTH volume and low Cl-
o Saline-unresponsive
o Will have higher urinary chloride (>20)
o Patients can have expanded ECP with hypervolemia
o Conditions include primary hyperaldosteronism, Cushing syndrome, etc.
Rheumatoid arthritis
o Presents as a progressive and symmetrical involvement of the peripheral joints
o Common sites include the metacarpophalangeal and proximal interphalangeal joints of
the fingers, metatarsophalangeal joints of the toes, and the wrist joints
o Can affect the cervical spine joints in the axial skeleton spinal subluxation
and spinal cord compression
o Typically will SPARE DIP JOINT (unlike osteoarthritis)
o S/S include:
o Multiple joint pain
o Morning stiffness >1 hour that improves with activity
o Labs will show:
o Positive anti-CCP antibodies
o Others include:
o X-ray will show soft-tissue swelling, joint space narrowing, and bony erosions
Intracranial hypertension
o Etiologies include: trauma, space-occupying lesion, hydrocephalus, impaired CNS venous
outflow, and idiopathic ICH (pseudotumor cerebri)
o Typically presents with headache (worse at night) along with n/v, mental status
changes, and may have focal neurologic symptoms
o Can worsen with maneuvers that increase ICP (e.g. leaning forward, valsalva,
cough)
o Cushing reflex is worrisome and suggests brainstem compression
o Triad of HTN, bradycardia, respiratory depression
Hypocalcemia
o May be asymptomatic at initial presentation but can have nonspecific symptoms (e.g.
fatigue, anxiety)
o After confirmation should determine the parathyroid hormone level to distinguish
between:
o Low PTH-associated conditions such as surgery, polyglandular autoimmune
MCC of hypoparathyroidism is recent surgery involving surrounding areas
(e.g. thyroidectomy)
o High PTH-associated conditions such as vit D def, CKD
Hypercalcemia
o Can be categorized on the basis of PTH levels
o PTH-independent
o Patient will have suppressed PTH
o Causes include: malignance, vit D toxicity, extrarenal conversion in
granulomatous disease (e.g. sarcoidosis) as well as thyrotoxicosis, vit A toxicitiy,
milk-alkali syndrome, drug induced (e.g. thiazides)
Rises from malignancy > other causes
1 hyperpara Ca2+ ~12
Malignancy Ca2+ ~14
o PTH-dependent
o Patients will have elevated or inappropriately normal PTH
o Usually due to primary hyperparathyroidism
Stones, bones, moans, and psychic overtones
These patients will have a increased urinary calcium excretion, due to
excessive mobilization of calcium from bones
o Other causes include: familial hypocalciuric hypercalcemia (FHH) and lithium
Secondary Hyperparathyroidism
Patients will have hypocalcemia, hyperphosphatemia, and increased PTH
One of the more common causes is renal failure
o Results in phosphate retention and decreased 1,25-vit D
Eventually leads to high phosphorus and decreased Ca2+ absorption
o NOTE that PTH levels will increase as the GFR declines (inverse relasionship)
PTH elevation usually correlates with severity of renal failure
Hereditary spherocytosis
o Epidemiology Typically autosomal dominant and more common in northern
European descent
o Most often is an ankyrin gene defect resulting in abnormal RBC plasma-
membrane scaffolding proteins
o Clinical presentation is hemolytic anemia, jaundice, and splenomegaly
o Labs will show:
o Increased MCHC
o PBS will show spherocytes
o Patients will have a negative coombs tests (unlike autoimmune hemolytic)
o Acidified glycerol lysis test indicates an increased osmotic fragility
o Abnormal eosin-5-maleimide binding test
o Treatment is typically with folic acid supplementation, transfusions, and splenectomy
o NOTE that splenectomy will improve anemia and reduce gallstone risk, but it
does NOT change the increased MCHC in the RBCs
o Complications include pigment gallstones (due to hemolysis) as well as aplastic crisis
(via parvovirus B19)
Vitiligo
o Results in depigmented macules on acral areas & extensor surfaces, with the face
commonly affected
o There is an increased incidence of other autoimmune diseases (e.g. SLE, thyroid,
Addison)
o Treatment is with corticosteroids (topical for mild, oral for severe)
Syringomyelia
o Is a fluid-filled cavity in the spine that may represent dilation of the central canal or a
separate cavity within the spinal parenchyma
o It is usually located within the cervical and thoracic
o It is most commonly associated with Arnold Chiari malformation type I
o Patients will typically present with:
o Cape distribution sensation loss that is due to disturbance of the crossing
spinothalamic tracts in the anterior commissure
o Patients can have areflexic weakness (LMN signs in upper limbs)
Caused by cavity expansion interruption of anterior horn gray matter
Guillain-Barre syndrome
Characterized by ASCENDING weakness as well as bulbar symptoms (e.g. dysarthria,
dysphasia)
Typically preceded by respiratory or GI infection (most commonly C. jejuni)
Treatment involves IVIG and/or plasmapheresis
Amyloidosis
Types
o AL
Composition is light chains (usually lambda)
Associated conditions include multiple myeloma and Waldenstrm
macroglobulinemia
o AA
Composition is abnormally folded proteins
Typically, 2-microglobulin, apolipoprotein, or transthyretin
Associated conditions include chronic inflammatory conditions (e.g. RA,
IBS) and chronic infections (e.g. osteomyelitis, TB)
Pathologic finding is amyloid deposits that will stain w/ Congo red and demonstrate
apple-green birefringence
MEN syndrome
I pituitary, parathyroid, pancreatic
IIa PCC, parathyroid, medullary thyroid
IIb PCC, meduallary thyroid, mucosal neuroma
Pseudogout
Form of acute arthritis induced by the release of calcium pyrophosphate from sites of
chondrocalcinosis (i.e. calcification of articular cartilage)
Patients present with acute pain, swelling, redness, and limited ROM
o Can have fever and mild leukocytosis, but much less common than gout
o MC = knee
Synovial fluid analysis will show an inflammatory effusion with rhomboid-shaped,
positively birefringent crystals (vs gout = needle-shaped, negatively birefringent)
Colovesical fistula
A connection between colon and bladder
Can be a complication of acute diverticulitis
o Mechanism is usually due to direct extension of a ruptured diverticulum or
erosion of a diverticular abscess into the bladder
Patient typically develops fecaluria or pneumaturia
o Can develop recurrent UTI (sometimes mixed flora) or other nonspecific
symptoms
Abdominal CT (oral or rectal contrast) can confirm diagnosis by showing contrast
material in the bladder
o Will also show thickened colonic and vesicular walls
Colonoscopy is usually recommended in patients diagnosed with colovesical fistula to
exclude colonic malignancy
Treatment is typically surgical after resolution of infection
Frostbite
Characterized by freezing of tissue, leading to disruption of membranes, ischemia,
thrombosis, and inflammatory changes
o Symptoms can vary from superficial pallor blistering necrosis
Initial management should be rapid rewarming in 37-39C water bath
o Should NOT be attempted if there is possibility of refreezing before definitive
care as it can worsen tissue damage
o After rewarming, wound care should be provided to reduce risk of secondary
infection
Gluconeogenesis
The main substrates include: alanine, glutamine, lactate, and glycerol 3-phosphate
o Gluconeogenic amino acids from breakdown of muscle proteins
o Lactate from anaerobic glycolysis
o Glycerol 3-phosphate from TAG in adipose
Alanine is the major gluconeogenic amino acid in the liver
o Will be converted to pyruvate (via alanine aminotransferase)
o And pyruvate glucose through series of reactions
Immune thrombocytopenia
Clinical presentation is with asymptomatic petechiae & ecchymosis (most common)
o As well as mucocutaneous bleeding and there is often antecedent viral infx
Lab findings will include an isolated thrombocytopenia (<100k) and a PBS w/
megakaryocytes
Treatment will depend on age and symptoms present
o Children
Skin findings observation
Bleeding IVIG or glucocorticoids
o Adults
Platelets >30k w/o bleeding observe
Platelets <30k OR bleeding IVIG or glucocorticoids
PCOS
Clinical features include: androgen excess, menstrual irregularities (e.g. oligoovulation,
anovulation), obesity, and polycystic ovaries
Lab values include: increased testosterone, increased estrogen, and LH/FSH imbalance
o LH/FSH imbalance results in failure of follicle maturation and oocyte release
o Persistently elevated esterone due to peripheral androgen conversion (in
adipose) and also decreased sex hormone binding-globulin
Treatment is with weight loss (1st line), OCPs (for menstrual regulation), and
clomiphene (induce ovulation)
Carcinoid syndrome
S/S include skin (flushing, telangiectasia), GI (diarrhea, cramping), cardiac (valve lesions
L>R), pulmonary (bronchospasm), and other (niacin deficiency)
Diagnosis is with an elevated 24-hour urinary 5-HIAA
o CT/MRI (abdomen & pelvis) can be used to localize tumor
o Should obtain echo if cardiac symptoms
Treatment is with octreotide (for symptomatic patients)
o Surgery should be performed on those with liver metastasis
Aortic Regurgitation
The MCC of isolated AR in young patients is a congenital bicuspid valve
o Other causes include aortic root dilation (e.g. marfan, syphilis),
postinflammatory (e.g. rheumatic, endocarditis)
Pathophysiology
o Backflow from the aorta into LV causes increased LVEDV
Eventually leading to pulmonary congestion
o Excessive LV stretching can lead to decreased SV, systolic HF, and decreased
forward blood flow
Clinically will present with:
o A diastolic decrescendo murmur and a widening pulse pressure (increased
systolic, decreased diastolic)
o Collapsing/water hammer pulse
o Heart failure s/s
Fibromuscular dysplasia
A systemic noninflammatory disease that typically affects the renal and internal carotid
arteries and can lead to arterial stenosis, aneurysm, or dissection
o More common in women (90% cases)
o Less commonly involved arteries include vertebral, iliac, or mesenteric
MCC symptom is a recurrent headache
o Other symptoms include those of ICA stenosis (pulsatile tinnitus, TIA, stroke) or
RAS (2 HTN, flank pain)
Physical exam can reveal a subauricular systolic and/or abdominal bruit
Diagnosis is made by vascular imaging
o Duplex US, CTA, MRA, catheter-based arteriography
Treatment involves antihypertensives and possibly definitive management (e.g.
percutaneous transluminal angioplasty, surgery)
Extranodal marginal zone B cell lymphoma (MALT)
Pathogenesis chronic H. pylori infection resulting in stimulation of large numbers of
antigen-dependent B and T cells in the gastric lamina
o All patients with MALT lymphoma should be tested for H.pylori infection
Treatment will depend on:
o H.pylori positive and early stage MALT
Undergo H.pylori eradication therapy (e.g. quadruple bismuth,
metronidazole, tetracycline, PPI)
o H.pylori negative or advanced malignancy
Considered for radiation therapy, immunotherapy, or single-agent
chemotherapy
Pulmonary Hypertension
Common presentation is with: progressive SOB, TR (systolic at sternal border increasing
with inspiration), peripheral edema, etc.
Defined as mean PAP > 25 at rest
o Can be idiopathic or 2/2 left heart disease, chronic lung disease, or chronic
thromboembolism
Treatment will depend on type
o For those with left systolic dysfunction, should be managed with loop
diuretics, ACE inhibitors, -blockers, and sometimes aldosterone antagonists
Choanal atresia
Presents as a newborn with cyanosis that is aggravated by feeding and relieved by
crying
Condition may be isolated or part of CHARGE syndrome
o C coloboma
o H heart defects
o A atresia choanae
o R retardation of growth/development
o G genito-urinary abnormalities
o E ear abnormalities/deafness
Congenitial nasal malformation is caused by a failure of the posterior nasal passage to
canalize completely either leaving a bony (90%) or membranous (10%) obstruction
Laryngomalacia
Classically presents with inspiratory stridor that is exacerbated by exertion or distress
Symptoms appear w/in the first few weeks of life
Cystic fibrosis
Is the most common AR disorder in whites
Characterized by a defective chloride transport (e.g. CFTR gene), resulting in viscous
secretions in the lungs, sinuses, and pancreas
Presenting symptoms include:
o Respiratory recurrent PNA, obstructive lung disease (e.g. bronchiectasis),
chornic rhinosinusitis
o GI pancreatic disease (e.g. exocrine insufficiency), obstruction, biliary
cirrhosis
Pancreatic insufficiency = steatorrhea, FTT, and vitamin deficiencies
o Reproductive infertility
o MSK osteopenia, kyphoscoliosis, digital clubbing
Relationship with infections diseases
o S. aureus is the MC pathogen isolated in infants and young children
o Pseudomonas is the MCC of CF-related PNA in adults
Tardive dyskinesia
Involuntary movement disorders associated with dopamine-blocking agents
o Movements include that of the mouth, tongue, trunk, and extremities
Most commonly associated with prolonged antipsychotic use
Pathophysiology of TD is thought to involve D2 receptor upregulation and
supersensitivity
Drug-induced acne
Causes include: glucocorticoids, immunomodulators, anticonvulsants, antipsychotics,
anti-TB agents
Presentation is as monomorphic papules/pustules with the lack of comedones, cysts &
nodules
Management is to d/c offending agent
o NOTE that standard acne therapy is unlikely to be effective
Aromatase deficiency
Present with normal internal genitalia, external virilization (e.g. clitoromegaly), and
undetectable serum estrogen levels
In adolescents, patients will have delayed puberty, osteoporosis, and undetectable
estrogen levels
o They will also have high gonadotropins polycystic ovaries
Diarrhea
To calculate SOG = plasma osmolality 2*(stool Na + stool K)
Osmotic
o Nonabsorbed and unmeasured osmotically active agents are present in GI tract
o Results in an elevated osmotic gap (SOG > 125)
Secretory
o Hallmark includes larger daily stool volumes with a reduced osmotic gap (<50)
o Causes include: bacterial infections (e.g. cholera), viral infections (e.g. rotavirus),
congenital (e.g. CF), early ileocolitis, and postsurgical changes
Boerhaave syndrome
Results from an esophageal transmural tear
o Caused by forceful retching (increased pressure)
o Will lead to esophageal air / fluid leakage into nearby areas (e.g. pleura)
Presentation can include the following:
o Vomiting, retching, chest & upper abdominal pain
o Odynophagia, fever, dyspnea, & septic shock (can occur)
o Subcutaneous emphysema can occur
Labs/Imaging
o CT or contrast esophagography WITH gastrograffin will confirm diagnosis
o CXR will show pneumomediastinum & pleural effusions
o Pleural fluid analysis will be: exudative, low pH, very high amylase (>2,500)
Treatment depends on where the performation occurs:
o Cervical, can use conservative measures
o Thoracic, must do surgery!
Tetralogy of Fallot
Is the most common cyanotic congenital heart defect
Has 4 characteristic anomalies
o RVOT obstruction (pulmonary stenosis or atresia)
Degree will determine clinical presentation
o RVH
o Overriding aorta
o VSD
Patients can develop a dramatic spasm hypercyanotic, hypoxic tet spell
o Tx = squatting/knee-chest position
o Works by increasing systemic vascular resistance, increased pulmonary blood
flow, and improves hypoxemia
Choriocarcinoma
Risk factors include: advanced maternal age, prior complete hydatiform mole
S/S include: amenorrhea or AUB, pelvic pain, uterine mass, elevated -hcg
o Symptoms of pulmonary metastases chest pain, hemoptysis, and dyspnea
Treatment is with chemotherapy
Chorioamnionitis
Risk factors include: PROM, prolonged labor, internal fetal or uterine monitoring
devices, presence of genital tract pathogens
Diagnosis is a maternal fever 38/100.4 plus 1 of the following
o Maternal tachycardia >100, uterine tenderness, malodorous/purulent amniotic
fluid or vaginal discharge, WBC 15k
o Fetal tachycardia >160
o Uterine tenderness
o Malodorous/purulent amniotic fluid or vaginal discharge
o WBC 15k
Treatment is with broad-spec abx and delivery!
There are both maternal neonatal complications to be aware of:
o Maternal uterine atony, PPH, endometritis
o Neonatal prematurity, infxn, encephalopathy, cerebral palsy, death
Glioblastoma multiforme
S/S can include: n/v as well as a HA that changes w/ position, coughing and sneezing
o Other symptoms can be present depending on location
For example, if in frontal lobe, will have personality changes and strange
behavior
CT/MRI findings will show a butterfly appearing tumor with central necrosis
o Will have a heterogenous, serpiginous contrast enhancement
Medulloblastoma
Is the 2nd MC posterior fossa tumor in children (after cerebellar astreocytoma)
Vast majority occur in the cerebellar vermis
o Particularly important for balance and coordination
Due to the proximity to 4th ventricle, can results in obstructive hydrocephalus and S/S
increased ICP (e.g. headache, vomiting)
Craniopharyngioma
Are suprasellar masses
Can create pressure on:
o Chiasm causing bitemporal hemianopsia
o Pituitary causing endocrinopathies (e.g. short stature)
Meningioma
Presents as a extra-axial well-cicumscribed or round homogenously enhancing dural-
based mass on MRI
o These tumors usually undergo calcification and can appear hyperdense on non-
contrast head CT
Considered to be benign 1 brain tumors arising from meningothelial cells and more
commonly found in middle-age to elderly women
S/S will depend on size:
o If become large, can cause neuro sx (e.g. headache, seizure, focal
weakness/numbness) and cause mass effect
Diagnosis is confirmed intraoperatively
Treatment is complete resection (in symptomatic patients) and typically leads to
complete cure
Congenital hypothyroidism
Most commonly caused by thyroid dysgenesis
o Other causes include: inborn errors of thyroxin synthesis and transplacental
maternal thyroid-receptor blocking antibodies
S/S include: lethargy, hoarse cry, poor feeding, constipation, dry skin, large fontanelles,
large tongue, umbilical hernia
o Other signs include pathologic jaundice, difficulty breathing, refractory
microcytic anemia
Diagnosis is with an elevated TSH, decreased free T4
o Most will be identified by newborn screening
Treatment is with levothyroxine
Creutzfeldt-Jakob disease
Will present as a rapidly progressive dementia
Has 2 out of 4 of the following features:
o Myoclonus
o Akinetic mutism
o Cerebellar or visual disturbance
o Pyramidal/extrapyramidal dysfunction (hypokinesia)
EEG can have period sharp waves
CSF assay will have positive 14-3-3
Definitive diagnosis includes the above symptoms w/:
o Brain biopsy = gold standard
o Demonstrated PRNP gene mutations
Periotonsilar abscess
S/S include: fever, pharyngeal pain, and earache
Examination can reveal:
o Trismus (spasm of the jaw muscles)
o Muffled hot potato voice
o Swelling of peritonsillar tissues with deviation of uvula to CL side
Treatment will involve aspiration or I&D w/ abx therapy
o Abx to gover Group A hemolytic strep and respiratory anaerobes
Epithelial ovarian carcinoma
Will occur primarily in postmenopausal women
o Those with BRCA mutation carrier are particularly susceptible
Clinical presentation will vary:
o Acute SOB, obstipation/constipation w/ vomiting, abdominal distension
o Subacute pelvic/abdominal pain, bloating, early satiety
o Asymptomatic adnexal mass
Labs may show an increased CA-125
US findings include a solid mass, thick septations, and ascites
o Remember that pelvic ultrasonography = 1st line for palpable adnexal mass
Mangement is with ex lap
o With cancer resection, staging, and abdominal cavity inspection
o Pelvic and paraaortic lymph nodes will be dissected
Luteoma
One of the MCC of hyperandrogenism in pregnancy
Appear as solid masses on U/S with 50% being bilateral
Complication can induce virilization in female fetuses
Will regress spontaneously after delivery
Hydrocele
Fluid collection within processus or tunica vaginalis
Can be communicating or non-communicating
o Communicating processus vaginalis fails to obliterate, fluid may accumulate
o Non-communicating collection of fluid present following obliteration
Will transilluminate
Treatment
o Most will resolve spontaneously by 12 months, can be observed
o If not resolved, remove surgically
Due to risk of inguinal hernia
Shoulder dystocia
Considered the inability to deliver fetal shoulders with usual obstetric maneuvers after
head delivers
It is an obstetric emergency due to risk of neonatal brachial plexus injury, fracture, and
if prolonged, hypoxic brain injury & death
Risk factors include:
o Fetal macrosomia (major risk factor)
o Maternal obesity
o Excessive pregnancy weight gain
o Gestational diabetes
o Post-term pregnancy
Warning signs = protracted labor, turtle sign (retraction of fetal head into perineum)
Management is to BE CALM
o B = breathe, do NOT push
o E = elevate hips against abdomen (e.g. McRoberts positions)
o C = call for help
o A = apply surprapubic pressure
o L = EnLarge vaginal opening with episiotomy
o M = maneuvers
Deliver posterior arm
Corkscrew rotate 180 (corkscrew)
Rubin collapse anterior shoulder
Zavanelli replace fetal head into pelvis for C-section
Gestational diabetes
ALL women should be screened at 24-28 weeks
o Those at high risk should undergo earlier screening and again at 24-28 weeks
Risk factors include: obesity, previous GDM, previous macrosomic infant
Target BG levels include:
o Fasting 95
o 1-hour postprandial 140
o 2-hour postprandial 120
Treatment is with:
o 1st line dietary modification
o 2nd line insulin, metformin, glyburide
insulin does NOT cross placenta
Pancoast tumor
Presentation is most commonly with shoulder pain
Other clinical findings can include:
o Horner syndrome
o C8-T2 involvement
o Supraclavicular lymph node enlargement
o Weight loss
Digoxin toxicity
Can cause a wide variety of side effects
o Cardiac Life-threatening arrhythmias
o GI anorexia, n/v, abd pain
o Neurologic fatigue, confusion, weakness, color vision alterations
Also interacts with a handful of drugs, that can either increase or decrease digoxin levels
o Amiodorone (or verapamil, quinidine, and propafenone) can increase levels
eventually leading to toxicity
Recommended that the digoxin dose be decreased 25-50% when
initiating amiodarone therapy, with close monitoring of levels once
weekly for next several weeks
Phenylketonuria
Is an autosomal recessive mutation in phenylalanine hydroxylase
o Causes a failure to convert Phe Tyr
o Results in hyperphenylalanemia and neurologic injury
Features include a severe intellectual disability, seizures, musty body odor, and
hypopigmentation (involving skin, hair, eyes, & brain nuclei)
Diagnosis is with a newborn screening (tandem mass spec) or a quantitative amino acid
analysis (demonstrates increased Phe)
Treatment is with Phe dietary restriction
Dumping syndrome
Caused by a loss of normal action of pyloric sphincter
o Results in rapid emptying of hypertonic gastric contents into the duodenum and
small intestine
o Causes fluid shifts from intravascular space to small intestine
hypotension, autonomic stimulation, and release of intestinal
vasoactive polypeptides
Symptoms include:
o Abdominal pain, diarrhea, nausea
o Hypotension and tachycardia
o Dizziness/confusion, fatigue, diaphoresis
Timing is typically 15-30 minutes after meals
Management is with dietary modification (frequent small meals, avoid simple sugars,
increase fiber & protein)
o Will eventually diminish over time
Flail chest
Pathophysiology is 3 contiguous ribs fractured in 2 locations
Findings will include a paradoxical motion with respiration as well as chest pain
CXR will show rib fractures +/- contusion/hemothorax
Management is with pain control and supplemental O2
o PPV +/- chest tube if respiratory failure
Hemophilia A & B
An X-linked recessive disease that is due to a factor VIII and IX deficiencies, respectively
Key features include delayed/prolonged bleeding after mild trauma or procedure which
can results in:
o Hemarthrosis, hemophilic arthropathy
Arthropathy is a late complication, believed to be caused by
iron/hemosiderin deposition synovitis and fibrosis
o IM hematomas
o GI or GU bleeding
Labs would include a prolonged aPTT and a normal platelet count, BT, PT
o Would have a decreased or absent factor VIII (A) or IX (B) activity
Treatment is with administration of factor deficiency
o Desmopressin in mild hemophilia A
Lacunar stroke
Small, subcortical infarcts resulting from occlusion of deep penetrating branches of
cerebral arteries
Affected areas typically include the basal ganglia, subcortical white matter, and pons
MC association = chronic HTN hypertensive vasculopathy
o Other risk factors include: DM, smoking, increased age, and increased LDLC
Erysipelas
Skin infection of the upper dermis and superficial lymphatic system
Most commonly caused by group A streptococcus
Rash will be warm, tender, and erythematous with raised, sharply demarcated borders
Diagnosis is typically made by clinical findings
o Obtain blood cultures when extensive rash, underlying comorbidities
Treatment depends on severity
o Limited involvement oral abx (e.g. amoxicillin)
o Systemic involvement IV abx (e.g. ceftriaxone, cefazolin)
Shy-Drager syndrome
Results in multiple system atrophy, characterized by:
o Parkinsonism
o Autonomic dysfunction
o Widespread neurological signs
Always consider when a patient with Parkinsonism experiences orthostatic hypotension,
impotence, incontinence, or other autonomic symptoms
Penile fracture
Results from rupture of corvus cavernosum due to traumatic tear in tunica albuginea
o Most frequently encountered when penis is in erect state
Patients typically experience an audible snapping, detumescence, and pain
o A hematoma forms rapidly, causing bending at the site of fracture
Retrograde urethrogram is employed in causes of suspected urethral injury:
o Blood at meatus
o Hematuria
o Dysuria
o Urinary retention
Syphilis in pregnancy
Screening is at the first prenatal visit
o If high risk, check again at third trimester and delivery
Serologic tests include RPR / VRDL and a confirmatory FTA-ABS (if initial is positive)
Treatment is with IM PCNG
Pregnancy effects include intrauterine fetal demise and PTL
Fetal effects include a variety:
o Hepatic hepatomegaly, jaundice
o Hematologic hemolytic anemia, decreased platelets
o MSK long bone abnormalities
o FTT
Legionella pneumonia
Arises from contaminated water (e.g. hospital, travel)
Clinical S/S include: fever, relative bradycardia, GI complaints (n/v, diarrhea, cramps), as
well as pulmonary symptoms
CXR will show lobar infiltrate
Labs and testing
o Patient may have hyponatremia
o Sputum gram stain will show PMNs, few/no organisms
o Urine legionella antigen
Treatment is with respiratory fluoroquinolone (e.g. levofloxacin) or macrolide
Metatarsus adductus
Considered the most common congenital foot deformity
Characterized by medial deviation of forefoot with normal neutral position of hindfoot
o Deformity is usually bilateral
>90% cases are characterized by flexible feet that overcorrect both passively and
actively into lateral deviation
Most common form will correct spontaneously
Congenital clubfoot
Characterized by medial/upward deviation of BOTH forefoot & hindfoot as well as rigid
positioning
o Will also have hyper-plantar flexion of foot
Treatment is with serial manipulation & casting
o Proceed with surgery for refractory cases
Friedreich ataxia
The most common type of spinocerebellar ataxias and has an autosomal recessive
pattern
S/S include:
o Neurological symptoms (e.g. ataxia, falling, dysarthria)
Results from degeneration of spinal tracts (e.g. spinocerebellar, posterior
columns, pyramidal tract)
o Non-neurological such as concentric HCM, DM, skeletal deformities (e.g.
scoliosis, hammer toes)
Cardiomyopathy will develop in 90% patients
MCC of death are CM and respiratory complications
Dacryocystitis
An infection of lacrimal sac
Usually occurs in infants and adults >40
Acute bout is characterized by the sudden onset of pain and redness
Common organisms include S. aureus and -hemolytic strep
Treatment is with systemic abx
Milk-alkali syndrome
Caused by an excessive intake of Ca2+ and absorbable alkali (e.g. calcium carbonate
preparations used in osteoporotic patients)
o Results in renal vasoconstriction and decreased glomerular BF
o Inhibition of NKCC and impaired ADH activity loss of sodium and free water
hypovolemia and increased reabsorption of bicarbonate
S/S include:
o N/v/c
o Polyuria, polydipsia
o Neuropsychiatric symptoms
Labs will indicate hypercalcemia, metabolic alkalosis, AKI, and suppressed PTH
o Other labs can indicate hypophosphatemia and hypomagnesemia
Treatment is to d/c offending agent
o Along with isotonic saline f/b furosemide
Gallstone ileus
Occurs when a gallstone passes through a biliary-enteric fistula into the small bowel
May cause intermittent tumbling obstruction with diffuse abd pain and vomiting
o Will eventually lodge in ileum (narrowest section of bowels)
S/S include: colicky pain, n/v, constipation, obstipation
Most important risk factor is cholecystitis
Diagnosis is confirmed by abdominal CT, which may reveal gallbladder thickening,
pneumobilia, and an obstructing stone
Treatment is surgical and involves removal of the stone
Vibrio vulnificus
Gram-negative bacteria that grows in coastal and marine environments
Infections acquired through raw oyster consumption or through wound contamination
Patients who have hemochromatosis = increased risk (free iron acts as exponential
growth catalyst
Causes a:
o Normally mild cellulitis
o Some patients necrotizing fasciitis with hemorrhagic bullous lesions
Treatment is with IV ctx + doxy
Pertussis
Caused by bordatella pertussis whooping cough
Multiple clinical phases
o Catarrhal: lasts 1-2 wks ; s/s cough, rhinitis
o Paroxysmal: lasts 2-6 wks ; s/s cough with inspiratory whoop, post emesis
o Convalescent: lasts months: s/s will gradually improve
Diagnosis is with a pertussis culture or PCR
Treatment is with macrolides
Prevention is with vaccine
Neonatal conjunctivitis
Chlamydial
o Less severe than gonococcal
o Presents at age 5-14 days
o Results in milder eyelid swelling and watery discharge
Gonococcal
o The most severe form
o Present at age 2-5 days
o S/S include edema, purulent exudate, and chemosis
o If left untreated, can progress to ulceration, scarring, and blindness
o Treatment is with IM 3rd gen ceph (e.g. cefotaxime, ceftriaxone)
o Prevention is with erythromycin ointment
Chemical
o Usually occurs w/in 24 hours
o Most common in neonates given silver nitrate
o Generally mild and does NOT result in purulent discharge
Shock
Hypovolemic
o Characteristics
Low RA pressure & PCWP (e.g. preload), due to decreased volume
Elevated SVR (e.g. afterload), in attempt to bring volume back
Cardiogenic
o Characteristics
Have decreased cardiac contractility, typically from LV dysfunction
Have elevated PCWP and RA pressure (e.g. afterload) due to volume
overload
Compensatory elevation in SVR
Due to the decreased CO = lower perfusion, resulting in tissues
attempting to extract more oxygen decreased MvO2
Neurogenic
o Characteristics
CNS injury causes poor vagal tone and reduction in SVR
Typically, will have bradycardia, due to impaired sympathetic response
MvO2 is typically low; improved peripheral extraction due to lower flow
Septic
o Characterized by:
Decreased SVR (e.g. afterload) due to peripheral vasodilation
Low/normal PCWP (e.g. preload) due to capillary leakage
Elevated MvO2 sat due to hyperdynamic circulation
With an inability of tissues to extract oxygen
May develop lactic acidosis from tissue hypoperfusion
Mumps
Most common in school-age children and s/s can be most severe in adolescents & adults
Presents with parotitis and fever after nonspecific prodrome
Common complications include:
o Aseptic meningitis (most common) HA, fever, nuchal rigidity
o Orchitis can results in infertility
TBG concentration
Increased can result from estrogens, hepatic dysfunction, medications
o Estrogens (e.g. pregnancy, OCPs, HRT)
o Heaptic (e.g. acute hepatitis
o Mes (e.g. tamoxifen)
Decreased can results from hormonal abnormalities, hypoproteinemia, medications
o Hormonal (e.g. Cushing, GCs)
o Hypoproteinemia (e.g. nephrotic, starvation)
o Meds (e.g. niacin, high-dose androgens)
Laryngomalacia
Results from an increased laxity of supraglottic structures
Presentation will be with an inspiratory stridor (worsened with supine)
o Typically peaks at 4-8 months
Diagnosis is usually clinical but confirmation with laryngoscopy
o Largyngoscopy findings include an omega-shaped epiglottis with supraglottic
collapse during inspiration
Management is typically reassurance or a supraglottoplasty for severe
Takayasu arteritis
Risk factors include female, Asian, ages 10-40
S/S can be constitutional (e.g. fever, weight loss) as well as arterio-occlusive in UE, and
arthralgias/myalgias
Physical exam would reveal BP discrepancies, pulse deficits, and arterial bruits
Diagnosis is with elevated inflammatory markers as well as imaging
o CXR will show aortic dilation and widened mediastinum
o CT/MRI will show wall thickening and lumen narrowing
Treatment is with systemic glucocorticoids
Osteomalacia
Causes include: malabsorption, bypass surgery, celiac sprue, liver disease, CKD
S/S include: bone pain, muscle weakness and cramps, difficulty walking
o May also be asymptomatic
Labs will include increased ALP, increased PTH, decreased serum calcium and
phosphorus, decreased 25 OH-vit D
o Leads to inadequate mineralization of the matrix
X-ray may show thinning of cortex with reduced bone density
o Characteristic radiographic finding includes b/l & symmetrical pseudofractures
Wernicke encephalopathy
Associated conditions: chronic alcoholism, malnutrition, hyperemesis gravidarum
Pathophysiology is via thiamine deficiency
Clinical features include encephalopathy, oculomotor dysfunction (e.g. horizontal
nystagmus, b/l abducens palsy), and ataxia
Treatment is with IV thiamine followed by glucose infusion
Brain abscess
Common organisms include: viridans strep, s.aureus, and gram-negative organisms
Pathogenesis can be:
o Direct from adjacent infection sinusitis, otitis, dental infection
o Hematogenous endocarditis, osteomyelitis
S/S include: headache, fever, FND
Imaging (CT or MRI) will show ring enhancing lesion w/ central necrosis
Wolf-Parkinson-White
An accessory pathway conducts depolarization directly from the atria to the ventricles
w/o traversing the AV node
Atrial fibrillation occurs in 10-30% of WPW individuals
o Persistent AF w/ RVR in WPW patients can deteriorate into VF
o Acute treatment of AF is aimed at prompt control of ventricular response
In hemodynamically unstable, patients require immediate electrical CV
In stable patients, rhythm control with anti-arrhythmic drugs such as IV
ibutilide or procainamide is preferred
AV nodal blockers (i.e. -blockers, digoxin, and adenosine) should be AVOIDED because
they can cause increased conduction through accessory pathways
Polymyalgia rheumatic
Characteristic features are: age > 50, b/l pain & morning stiffness, as well as
involvement of 2 of the following (neck/torso, shoulders/prox arms, prox thigh/hip,
constitutional)
Physical exam will reveal decreased active ROM in shoulders, neck & hips
Labs will show an elevated ESR, elevated CRP as well as possible normocytic anemia
o ~20% can have normal studies
Treatment is with glucocorticoids (e.g. prednisone)
NOTE that it is frequently associated with GCA if suspected, consider TA biopsy
Entamoeba histolytica
Risk factors are developing nations, contaminated food/water, and fecal-oral sexual
transmission
S/S most will be asymptomatic, while others may have colitis or develop liver abscess
o Liver abscess occurs when E.histolytica spreads from colonic mucosa liver via
portal vein
Symptoms are subacute and include RUQ and fever
As well as hepatomegaly and elevated transaminases
Imaging will show single subcapsular cyst in the right hepatic lobe
Diagnosis is with stool ova/parasite (colitis) and serology (abscess)
Treatment is with metronidazole and intraluminal abx (e.g. paromomycin)
Echinococcus granulosus
Is a dog tapeworm (sheep = intermediate host) present in rural, developing countries
Liver cyst = most common
o Mass effect RUQ pain, n/v, hepatomegaly
o Rupture fever, eosinophilia
Diagnosis is with imaging, will show a hydatid cyst w/ internal septations
o Also can use IgG E.granulosus serology
Treatment is with albendazole
o If >5cm cyst or many septations, can do percutaneous therapy
o If ruptured, do surgery
Immunosuppresants
Azathioprine
o Purine analog that is enzymatically converted to 6-mercaptopurine
o Acts primarily by inhibiting purine synthesis
o Major side effect is dose-related diarrhea, leukopenia, and hepatotoxicity
Calcineurin-inhibitors (e.g. cyclosporine, tacrolimus)
o Cyclopsorine has side effects of nephrotoxicity, hyper[K], HTN, gym
hypertrophy, hirsutism, and tremor
o Tacrolimus has similar side effects except hirsutism and gum hypertrophy
Mycphenolate
o Reversible inhibitor of IMPDH, which is rate-limiting enzyme in de novo purine
synthesis
o Major side effect/toxicity is bone marrow suppression
Acute glaucoma
Is considered a medical emergency, caused when canal of Schlemm gets blocked and
aqueous humor cannot be drained
Patients will present with sudden eye pain, decreased visual equity, headache,
injection
The goal of treatment is to reduce intracranial pressure
o 1st line is IV mannitol, and osmotic diuretic that works immediately
o Acetazolamide is a CA inhibitor that reduces aqueous humor production
decreased ICP
o Pilocarpine acts to open canals of Schlemm and allows for drainage
o Timolol is a -blocker that acts to decrease production of aqueous humor
Should AVOID mydriatic agents (e.g. atropine) can WORSEN glaucoma
o Sometimes atropine can precipitate glaucoma
Ludwig angina
A rapidly progressive cellulitis of the submandibular space
Most cases arise from dental infections in mandibular molars that spread contiguously
down the root into submylohyoid sublingual space
Infections is typically polymicrobial with oral aerobic (e.g. strep viridans + anaerobic)
S/S include: systemic (fever, chills, malaise), and local (e.g. mouth pain, droolying,
airway compromise)
o Submandibular area is tender and indurated and the mouth floor is usually
elevated, which will displace tongue (superior and posterior)
CT scan will confirm diagnosis
Treatment is with IV abx (e.g. amp-sulbactam, clindamyicin) and removal of tooth
Neonatal polycythemia
Definition is with a Hct >65% in term infacts
Causes include:
o Increased erythropoiesis from intrauterine hypoxia: maternal DM, HTN or
smoking as well as IUGR
o Erythrocyte transfusion: delayed cord clamping, twin-twin transfusion
o Genetic/metabolic disease: hypo/hyperthyroidism, genetic trisomy (13, 18, 21)
Clinical presentation is typically Asx, but symptoms can include ruddy skin,
hypoglycemia, hyperbilirubinemia, respiratory distress & cyanosis, irritability,
abdominal distension
Treatment is with IVF, glucose, partial exchange transfusion
Hyperemesis gravidarum
Risk factors include: Hydatidiform mole, multifetal gestation, h/o HG
Clinical features include: severe persistent vomiting, >5% loss pregnancy weight,
dehydration, orthostatic hypotension
Labs may show: ketonuria, hypoglycemia, as well as a hypokalemic hypochloremic
metabolic alkalosis
o Ketonuria occurs due to prolonged hypoglycemia resultant ketoacidosis
o Volume loss causes a contraction metabolic alkalosis with activation of RAAS
Treatment is with admission to hospital (if severe), antiemetics, and IVF
Endometriosis
Pathogenesis is via ectopic implantation of endometrial glands
Clinical features include: dysmenorrhea, dyspareunia, dyschezia, and pelvic pain
o One of the leading causes of infertility
Physical exam will reveal a immobile uterus, cervical motion tenderness, adnexal mass,
as well as nodules (recto-vaginal septum, posterior cul-de-sac, & uterosacral ligaments)
Diagnosis is with direct visualization and surgical biopsy
Treatment is medically (OCPs, NSAIDs) and surgical resection
o Resection typically improves contraception rate
Preeclampsia
Diagnosis = new-onset HTN at 20 weeks + proteinuria and/or end-organ damage
Risk factors include: multiple gestation, nullparity, preexisting DM, advanced age, CKD,
h/o preeclampsia
Severe features include:
o SBP 160, DBP 110
o Elevated transaminases
o Increased creatinine
o Pulmonary edema
o Thrombocytopenia
Management is dependent on what is happening:
o W/o severe features delivery at 37 weeks
o W/ severe features delivery at 34 weeks
o Magnesium sulfate should be given for seizure prophylaxis (e.g. eclampsia)
Complications can arise for both the mom and child:
o Fetal includes putting the fetus at risk for chronic uteroplacental insufficiency
Can lead to FGR/LLBW even if delivered at term
o Maternal includes placental abruption, DIC, and eclampsia
HELLP syndrome
Clinical features include preeclampsia, n/v, RUQ
o Severe liver problems can occur including: centrilobular necrosis, hematoma
formation, and thrombi in portal capillary system
Cause liver swelling and Glissons capsule distension
Results in presentation of RUQ and epigastric pain
Labs include a microangiopathic anemia, elevated liver enzymes, and low platelets
Treatment is with delivery, magnesium (for seizure prophylaxis), anti-hypertensives
Ovarian torsion
Risk factors include: ovarian mass, women of reproductive age, infertility tx with
ovulation induction
Presentation is w/ sudden-onset unilateral pelvic pain, n/v
o Can present with palpable adnexal mass
US will show adnexal mass w/ absent doppler flow
Treatment is with laprasocopy w/ detorsion or ovarian cystectomy
o Should do an oophorectomy if necrosis or malignancy
Postoperative endophthalmitis
MC form of endophthalmitis
Usually occurs w/in 6 weeks of surgery
Patients usually present with pain and decreased visual acuity
Exam reveals: swollen eyelids and conjunctiva, hypopyon, corneal edema, and
infection
o Hypopyon = exudate in chamber
Based on severity intravitreal abx injection or vitrectomy
Transfusion reactions
Febrile non-hemolytic
o The most common reaction
o Patient presents with fever and chills, and occurs w/in 1-6 hours of transfusion
o Caused by cytokine accumulation during blood storage
Acute hemolytic
o Patient presents w/ fever, flank pain, hemoglobinuria, renal failure, & DIC
o Occurs w/in 1 hour
o Lab findings will reveal a positive Coombs test
o Caused by ABO incompatibility
Delayed hemolytic
o Patient will have a mild fever & hemolytic anemia
o Presents w/in 2-10 days of transfusion
o Patient will have a positive Coombs and positive new Ab screen
o Caused by an anamnestic antibody response
Anaphylactic
o Patient will have a rapid onset shock, edema/urticarial, resp distress
o Will occur within SECONDS-minutes of transfusion
o Caused by recipient anti-IgA antibodies
Urticarial/allergic
o Patient presents with urticarial, flushing, edema, pruritus
o Occurs w/in 2-3 hours of transfusion
o Caused by recipient IgE antibodies along with mast cell activation
TRALI
o Patient will present with resp distress & noncardiogenic pulmonary edema
o Occurs w/in 6 hours of transfusion
o Caused by donor anti-leukocyte antibodies
Shoulder dislocation
Anterior
o Is the most commonly dislocated joint due to shallow articulation between
humeral head and glenoid fossa
o Typically caused by a blow to an externally rotated and abducted arm
o MC complication is axillary nerve damage
Results in shoulder abduction weakness (via teres minor and deltoid)
Also will have sensory deficit in lateral shoulder
Posterior
o Occurs when head is forced posteriorly in an internal rotation when arm is
abducted
MCC = convulsive disorders, another cause is electrocution
o Watch out for neurovascular compromise
Atlantoaxial instability
Malformation in 10-15% of Down syndrome patients
Most commonly occurs due to excess laxity in PTL increased mobility btwn C1 & C2
Symptoms may include: behavioral changes, urinary incontinence, vertebrobasilar s/s
o Other findings may include UMN symptoms
Diagnosed with lateral C-spine (in flexion, extension, and neutral)
Treatment consists of surgical fusion of C1 & C2
Anemia of prematurity
Will affect most PT infants, and onset/severity depends on degree of prematurity
Results from impaired EPO production = decreased reticulocyte production
Labs will indicate low H&H, low RI, and a normocytic normochromic PBS
Treatment is with iron supplementation and minimize blood draws
o RBC transfusions can be given in Sx patient, but it will further suppress EPO
levels and delay recovery
o Supplemental EPO is NOT effective in preventing need for transfusions
Cyanide toxicity
Etiologies include: compounds (e.g. wool, silk), industrial exposure (e..g metal
extraction), and medications (e.g. nitroprusside)
Pathophysiology is by binding to cytochrome oxidase and inhibiting mitochondrial
oxidative phosphorylation
o Cells will then shift to anaerobic metabolism lactic acidosis
metabolic acidosis and renal failure
S/S include: flushing, AMS, metabolic acidosis along with arrhythmias, tachypnea,
pulmonary edema, and abdominal pain (along with others)
Treatment is with sodium nitritie, thiosulfate, and hydroxycobalamin
Vasospastic angina
Pathogenesis is from hyperactivity of coronary smooth muscle
o Underlying mechanism is similar to Raynauds phenomenon
Presentation: younger patients, h/o smoking, recurrent chest discomfort (occurs at rest,
spontaneous resolution 15min)
Diagnosis is with ST elevation and no CAD on angiography
Treatment is with CCBs
o Nitrates used for abortive therapy
Compartment syndrome
Common S/S: pain out of proportion, pain increased on passive stretch, rapidly
increasing & tense swelling, and early paresthesias
Uncommon S/S: decreased sensation, motor weakness, late paralysis, decreased distal
pulses
Diagnosis is via measurement of compartment pressure >30mmHg
o Or delta pressure <20-30 (diastolic blood pressure compartment pressure)
Treatment is to observe and if severe, fasciotomy
Pericarditis
Presentations is with a sharp pleuritic chest pain and friction rub
ECG will show diffuse ST-segment elevations
Etiologies
o Infection viral is most common
o Iatrogenic surgery, trauma, radiation & drug-related
o CTD RA, SLE
o Cardiac Dressler syndrome (post MI ~6 weeks)
o Uremic Serum BUN 60 with renal failure (usually)
NOTE, usually doesnt have the ECG changes associated with
Treatment is with hemodialysis
o Malignancy can be due to cancer or treatment
Aortic injury
Commonly caused by high-energy, blunt, rapid deceleration trauma
Death is almost immediate
CXR will show a large left-sided hemothorax and widened mediastinum (can we
rightward deviating)
Senile purpura
Non-inflammatory disorder that is most common in elderly
o Can also be seen in younger patients with extensive sunlight exposure
Caused by a loss of elastic fibers in perivascular connective tissue
Minor abrasion can rupture superficial blood vessels in the elderly, leading to
ecchymosis over vulnerable areas
Osteoid osteoma
Benign bone-forming tumor that will most often occur in adolescents and early
adulthood
Will MC affect proximal femur but can also involve other long bones and the spine
Treatment is with NSAIDs and serial X-rays (q4-5 months to monitor)
McCune-Albright syndrome
Characterized by precocious puberty, caf au lait spots, and multiple bone defects
(polyostotic fibrous dysplasia)
May be associated with other endocrine disorders (e.g. hyperthyroidism, prolactin or
GH-secreting pituitary adenomas, and adrenal hypercortisolism)
Recently attributed to a defect in G-protein cAMP-kinase function resulting in
autonomous activity of that tissue
Small-bowel obstruction
Clinical presentation is with colicky abd pain, constipation/obstipation, hyperactive
absent BS, as well as a distended & tympanic abdomen
Diagnosis can be made with imaging
o Will see dilated loops of bowel
o Partial air in colon
o Complete transition point, no air in colon
Complications include ischemia/necrosis (via strangulation) and bowel perforation
Management is with bowel rest, NG suction, IVF
o Surgical exploration should be performed in complicated cases and those with
s/s ischemia or necrosis
Acalculous cholecystitis
Risk factors include: severe trauma or recent surgery, prolonged fasting or TPN, and
critical illness
Presentation is with fever, leukocytosis, increased LFTs, and RUQ pain
o Jaundice and RUQ mass is less common
Pathophysiology
o Likely due to cholestasis and gallbladder ischemia leading to secondary
infection by enteric organisms
Resultant edema and necrosis of gallbladder
Diagnosis is with abdominal U/S
o Will reveal GB wall thickening and distension with the presence of
pericholecystic fluid
o Can do HIDA or CT scan if needed
Treatment is with abx f/u by percutaneous cholecystectomy
o Initial drainage can be done via cholecystostomy
Cervical conization
Can be performed with scalpel (cold knife conization) or via LEEP procedure
Indications include CIN 2 & 3
Complications include cervical stenosis, PT birth, PPROM, 2nd TM pregnancy loss
Charcot joint
Associated conditions include: vitamin B12 deficiency, DM, peripheral nerve damage,
spinal cord injury, syringomyelia, tabes dorsalis
Manifestation include: deformed joints, decreased sensation w/ loss of neurologic
input, arthritis, mild pain, and fractures
Imaging may show DJD & loose bodies
Management is to tx underlying cause as well as usage of mechanical devices
Antiphospholipid syndrome
Diagnosis is made by a variety of factors
o Vascular thrombosis (e.g. TIA, stroke, DVT) and/or
o Pregnancy complications (e.g. recurrent miscarriage)
o 1 of these Abs: anti-cardiolipin, lupus anticoagulant, anti-2-glycoprotein
Management is with anticoagulation
o Heparin after acute thrombotic event or to prevent thromboembolism
o Will require long-term management with warfarin
NOTE: In vitro, it will prolong PTT as it binds the phospholipids used in most assays
o PTT will NOT correct with mixing study
o PTT is an indirect indicator for the presence of LA and highly suggestive in
clinical setting
Diagnosis is with Russel viper venom assay
Iron poisoning
Features are dependent on time of ingestion:
o Within 30 minutes, patient will have abdominal pain, vomiting, diarrhea,
hypotensive shock, as well as metabolic acidosis
o Within 2 days, develop hepatic necrosis
o Within 2-8 weeks, develop pyloric stenosis
Diagnosis is with a AGMA and radiopaque pills
Treatment is with whole bowel irrigation, deferoxamine, and supportive ABCs
Cystinuria
Group of disorders characterized by impaired amino acid transport
o Problem lies with the defective transport of dibasic amino acids (cysteine,
lysine, arginine, and ornithine) by the brush borders of renal tubular and
intestinal epithelial cells
Cysteine is poorly soluble in water formation of hard, radiopaque renal stone
Patients will have a positive urinary cyanide nitroprusside test
o Test can detect elevated cysteine levels confirmation of diagnosis
Urinalysis will typically show hexagonal stones that are hard and radiopaque
Postpartum endometritis
Risk factors include: C-section, chorioamnionitis, GBS colonization, prolonged rupture of
membranes, operative vaginal delivery
Clinical features include fever >24hrs postpartum, uterine fundal tenderness, and
purulent lochia
Typically is a polymicrobial infection (so must use broad coverage: anaerobes as well)
Treatment is with clindamycin + gentamicin
o Should continue until patient is afebrile for >24 hours
o Further evaluation is indicated if no improvement after 48hrs of abx
Mediastinal masses
Anterior: thymoma, retrosternal thyroid, teratoma, and lymphoma
Posterior: neurogenic tumors (e.g. meningocele, enteric cysts, lymphomas,
diaphragmatic hernias, esophageal tumors, and aortic aneurysms
o MRI is the best modality to assess
o Esophageal leiomyomas are submucosal and usually asymptomatic
Will only produce symptoms when >5cm; when large, remove
Middle: Bronchogenic cysts
VIPoma
Rare tumor affecting the pancreatic cells that produce VIP, typically in pancreatic tail
o Can have MEN association (look for parathyroid and pituitary tumors)
o VIP binds to intestinal epithelial cells to increase fluid and electrolyte secretion in
the intestinal lumen
Clinical presentation is with watery diarrhea, achlorhydia (due to decreased acid
secretion), as well as associated flushing, lethargy, n/v, muscle weakness
Labs will indicate:
o Hypokalemia due to increased intestinal potassium secretion
o Hypercalcemia due to increased bone resorption
o Hyperglycemia due to increased glycogenolysis
o Stool studies showing a secretory diarrhea with increased sodium and a osmolar
gap <50
Diagnosis is with a VIP >75
Can use an abdominal CT or MRI to localize, typically in pancreatic tail
Pancreatic adenocarcinoma
NOTE that painless jaundice = pancreatic cancer until proven otherwise!!!
When advanced, can obstruct CBP extrahepatic cholestasis
o S/S obstruction include jaundice and pruritus
Treatment is usually palliative
o Can include endoscopic CBD stent placement to relieve obstruction
Common fibular neuropathy
Common fibular nerve (e.g. peronieal nerve) travels near fibular head and is extremely
susceptible to compressive injuries (via leg immobilization, prolonged crossing,
protracted squatting)
S/S include:
o Unilateral foot drop
o Numbness/tingling over the dorsal foot and lateral shin
o Impaired ankle dorsiflexion as well as great toe extension
Patients will have preserved plantar flexion
Diagnosis is typically made with EMG and nerve conduction studies
Treatment will include reducing pressure on nerve as well as PT
Placental abruption
Risk factors include: maternal HTN, abdominal trauma, prior placental abruption,
cocaine & tobacco use
Presentation is with sudden-onset vaginal bleeding (80%) along with high-frequency,
low-intensity contractions and a hypertonic, tender uterus
Diagnosis is mainly clinical presentation
o U/S useful to r/o placenta previa and it may show a retroplacental hematoma
Potential fetal complications include: hypoxia and preterm delivery
Most serious maternal complications are progression into hypovolemic shock and DIC
Placenta previa
Risk factors include: prior placenta previa, prior C-section or uterine surgery,
multiparity, advanced maternal age
Clinical features include: painless 3rd TM bleeding
Diagnosis is with transabdominal (f/b transvaginal)
o Typically diagnosed at prenatal US @ 18-20 GA
Management is to abstain from intercourse and NEVER do digital vaginal exam
o C-section is typically scheduled for 36-37 GA because cervical changes and
uterine contractions can cause partial placental detachment from the cervix
Urinary incontinence
Stress
o Patients will have leaking with increased pressure (e.g. coughing, sneezing,
laughing, lifting)
o Treatment is with lifestyle modification, pelvic floor exercises, pessary, and
pelvic floor surgery
Best long-term management of SUI is a midurethral sling
Urge
o Patients have a sudden, overwhelming or frequent need to empty bladder
They can often not make it to the bathroom in time
o Treatment is with lifestyle modification, bladder training, & antimuscarinic drugs
Alpha blockers (e.g. tamsulosin) are used for patients with BPH (causing
an urge incontinence)
Antimuscarinics (e.g. oxybutynin) are used for urge
Overflow
o Patients have a constant involuntary dribbling of urine & incomplete emptying
o Treatment is with cholinergic agonists and intermittent catheterization
Bethanecol is used to treat overflow in diabetic neuropathy
Sympathetic ophthalmia
Also known as spared eye injury
Characterized by an immune-mediated inflammation of one eye AFTER penetrating
injury to other eye
o Pathophysiological mechanism is believed to be uncovering of hidden antigens
Leriche syndrome
Characterized by a triad of:
o B/l hip, thigh and buttock claudication
o Symmetric atrophy of b/l LE (due to chronic ischemia)
o Impotence (almost always present, if not present think of a different dx)
From the groin distally, pulse is soft or absent bilaterally
Greatest risk of men who have a predisposition for atherosclerosis (e.g. smokers)
Delirium
Risk factors include: advanced age, neurological disorder, and sensory impairment
Precipitating causes include:
o CNS insult
o Infection
o Medications
o Metabolic disturbances
Clinical features are acute-onset, FLUCTUATING mental status as well as sleep-wake
changes, and disturbance in attention
Management is to:
o Treat underlying cause
o Avoid polypharmacy
o Maintain normal sleep-wake cycle
o Provide frequent reorientation
Pinealoma
Pineal gland is located in the quadrigeminal cistern
It is responsible for melatonin production
o Destruction can lead to dysregulation of circadian rhythm
Can cause serious complications from mass effect:
o Parinaud syndrome limited upward gaze, upper eyelid retraction (Collier
sign), and pupils NON-reactive to light but reactive to accommodation
o Obstructive hydrocephalus causing papilledema, headache, vomiting, ataxia
Blockage of CSF flow in aqueduct of Sylvius
Pediatric stroke
Raise concern if patients presents with acute, FND
Clinical features include: focal weakness, hemiparesis, AMS, aphasia, seizure, etc
Etiologies
o MCC = sickle cell disease
o Other causes include: prethrombotic disease, congenital cardiac disease,
bacterial meningitis, vasculitis, focal cerebral arteriopathy, head/neck trauma
If concern for stroke exists, and MRI should be performed to confirm diagnosis
Babesiosis
Transmitted via ixodes scapularis tick and MC in northeastern US
Manifestation include:
o Flu-like symptoms (fever, fatigue, malaise, myalgia, headache)
o Other symptoms include anemia, thrombocytopenia, liver injury
o Severe complications include: ARDS, CHF, DIC, and splenic rupture
Diagnosis is made with blood smear showing intraerythrocytic rings (Maltese cross)
Treatment is with atovaquone + azithromycin
o If severe, quinine + clindamycin
Trastuzamab
Monoclonal antibody often used in combination with adjuvant chemotherapy with
patients with HER2-positive breast carcinoma
A well known side effect is cardiotoxicity
o Will usually manifest as an asx decline in LV EF
o Risk and extent are amplified when used in combination with other cardiotoxic
chemo drugs (e.g. doxorubicin)
Prior to initiating trastuzamab, patients should undergo a baseline echo to assess
cardiac function
o Should be reassessed by echo at regular intervals
o If any significant decline in ejection fraction, therapy should be discontinued
Acute epididymitis
Epidemiology is age dependent:
o <35, most likely sexually transmitted (e.g. Neisseria, chlamydia)
o >35, most likely bladder outlet obstruction (e.g. coliform bacteria)
Symptoms include: U/L testicular pain, epididymal edema, as well as dysuria and
frequency changes
Diagnosis is with U/A and Cx or a NAAT for chlamydia/gonorrhea
Treatment is:
o CTX + doxy for STI
o Levofloxacin for coliform
Wiskott-Aldrich syndrome
Etiology: X-linked recessive defect in WAS protein gene
o Will have impaired cytoskeleton changes in leukocytes and platelets
Features include: eczema, microthrombocytopenia, and recurrent infections
Treatment is with stem cell transplant
Hypomagnesemia
Defined as a serum Mg < 1.5
Most often caused by other electrolyte abnormalities (e.g. hypokalemia, hypocalcemia,
or metabolic acidosis)
o Other causes include: renal failure, diarrhea, vomiting, and gastric suctioning
o Decreased levels can occur in the setting of: malabsorption, steattorhea, and/or
small bowel bypass surgery
o Medications that can cause include thiazides, loops, PPIs, and
immunosuppressant rugs (e.g. mycophenolic acid)
S/S include tremor, hyperactive DTRs, tetany and possibly chvostek and trousseau (via
hypocalcemia)
Will have affects on CV and peripheral NS
o Cardiac: U waves and prolonged QT Torsades
Common associations
o Approximately pts with hypomagnesiemia will have coexisting hypokalemia
Concentration of K+ in collecting tubules is increased and K+ is renally
excreted
Hypokalemia will be refractory to K+ supplementation and requires
correction of magnesium deficit
Ecthyma gangenosim
Disorder associated with Pseudomonas
Characterized by rapidly progressive skin lesions that develop into nontender nodules
with central necrosis
Seen more often in patients who are immunocompromised
Treatment is with antipseudomonal abx
CSF findings
Acute meningitis will have low glucose, elevated protein, and neutrophilic pleocytosis
Tuberculosis will have low glucose, elevated protein, and lymphocytic pleocytosis
HSV will have normal glucose, elevated protein, and lymphocytic pleocytosis
o Can also have elevated RBC as a result of hemorrhagic destruction of
frontotemporal lobes
SVC syndrome
Caused by compression of SVC
Patients will often have a headache that is worse when leaning forward
MCC = malignancy
o If it causes respiratory compromise, may require endovenous stenting f/b
radiation therapy
Hypovolemic hyponatremia
Presents with Na<135 along with s/s hypovolemia (e.g. decreased intake & output,
orthostatic, lightheaded, dry, poor skin turgor, tachycardic)
Extrarenal losses will have a urine sodium 20 and include:
o Diarrhea, vomiting
o Burns
o Pancreatitis
Renal losses will have a urine sodium 20 and include:
o Diuretics
o Mineralocorticoid deficiency
Decreased effective circulating volume from CHF or cirrhosis (3rd spacing)
RhoGAM administration
ALL Rh negative women given administration at 28 weeks
o Standard dose @28 weeks can usually prevent alloimmunization
Another administration is repeated w/in 72 hours of delivery
o >50% need higher dose after delivery, placental abruption, or procedures
Other times it is administered are when there is risk of maternal-fetal mixing (e.g.
abortion, trauma, etc)
Intraventricular hemorrhage
Common complication in premature and underweight neonates
S/S: lethargy, high-pitched cry, increasing head circumference, and bulging fontanels
Accumulation of blood in the subarachnoid space can impair ability of arachnoid villi to
absorb CSF
o resulting in communicating hydrocephalus
Affected neonates are at risk of permanent neurodevelopmental problems and death
ONLY intervention that can reduce incidence is prevent PTL (e.g. corticosteroids)
Rectovaginal fistula
MCC is obstetric injury
o May present w/in 1st 2 weeks post partum
o Occurs most often after 3rd/4th degree laceration
Presents with incontinence of flatus/fecal material through vagina causing a
malordorous brown/tan discharge
Diagnosis is confirmed by visual examination showing dark red, velvety rectal mucosa
on posterior vaginal wall
Treatment is with surgical fistula repair
Osteid osteoma
Will typically cause pain worse at night and unrelated with activity
Appears as a sclerotic, cortical lesion with a central nidus of lucency
Treatment is with NSAIDs
Mucormycosis
Caused by Rhizopus spp.
Risk factors include DM, hematologic malignancy, and transplant
S/S are typically acute and include: fever, nasal congestion, purulent discharge, sinus
pain, and headache
o Can present with necrotic spread to palate, orbit, and brain
Diagnosis is with sinus endoscopy with bx & cx
Treatment is with surgical drbridement as well as amphotericin B
o Should also work on eliminating predisposing factors (i.e. BG control)
Effusions
Know LIGHTS CRITERIA will be exudative if
o Fluid/serum protein >0.5 OR
o Fluid/serum LDH >0.6 OR
o LDH >2/3 UL normal
Transudative are commonly caused by decreased intrapleural or plasma oncotic
pressures as well as elevated hydrostatic pressures
Exudative are often the result of increased capillary or pleural membrane permeability
o Or disruptions of lymphatic outflow
Pronator drift
PE finding that is relatively sensitive and specific for UMN or pyramidal/CST tract
disease
o Particularly useful in patients with subtle deficits as it can accentuate pyramidal
motor weakness
In patients with disease, the affected arm drifts downward and palm turns/pronates
toward the floor
Late-onset bowel & bladder dysfunction Early-onset bowel & bladder dysfunction
Edwards syndrome
Occurs from trisomy 18
Classic findings include: micrognathia, rocker-bottom feet, overlapping fingers, and
signs of intrauterine growth restriction (e.g. microcephaly, VSD)
Diagnosis is based on prenatal U/S and karyotype confirms
95% of patients die during 1st year of life, typically due to cardiac or respiratory failure
Exopthalamos
True disease with impaired extraocular motion is seen ONLY graves
Due to t cell activation and stimulation of orbital fibroblasts and adipocytes by TRAB
o results in orbital tissue expansion and lymphocytic infiltration
Erb-Duchenne palsy
Involves the 5th, 6th, and 7th (sometimes) cervical nerves
Patients will have weakness of:
o C5 deltoids and infraspinatus
o C6 biceps
o C7 wrist/finger extensors
Resultant position is the characteristic waiters tip which is arm adducted & internally
rotated, elbow extended, forearm pronated, with wrist/fingers flexed (if C7
involvement)
Approximately 80% patients spontaneously recover within 3 months
o If no improvement, can do surgical intervention but it may not be curative
Rotor syndrome
Benign hereditary condition with chronic or fluctuating conjugated hyperbilirubinemia
o Due to a defect in hepatic secretion of conjugated bilirubin into biliary system
Labs will reveal normal AST, ALT, ALP
Patients will have positive urine bilirubin
o If hepatic dysfunction, obstruction, or defect (such as Rotors), there is a plasma
buildup of conjugated bilirubin leaks into urine
Leads to dark urine and positive urine bilirubin assay
Patients will have negative urobilinogen
o Contrast urobilinogen would be positive in unconjugated hyperbilirubinemias
Vitreous hemorrhage
Typically presents as a sudden loss of vision and onset of floaters
o On exam the fundus is hard to visualize
Has association w/ diabetic retinopathy
For patients with underlying medical conditions, conservative treatment (i.e. upright
position during sleep) is recommended
Immunodeficiencies
SCID
o Etiology patient will have low/absent CD19+ (B cells) and CD3+ (T cells)
Gene defect leading to failure of T cell development
B-cell dysfunction (due to absent T cells)
o Result from a gene defect leading to failure of T cell development
Due to absent T cells, there is B cell dysfunction (via loss of CD4+ cells)
o Features include: recurrent viral, fungal, or opportunistic infections as well as
FTT and chronic diarrhea
o Treatment is with stem cell transplant
o
Bruton
o Characterized by absent B cells, low serum Igs, but normal T cell
o Present with recurrent sinopulmonary and GI infections
o Examination will show an absence of lymphoid tissue
CVID
o Similar to Brutons, but is less severe and presents later
o Patients will have normal T and B cell counts
o Causes recurrent sinopulmonary and GI infections due to
hypogammaglobulinemia
Glucose-6-phosphatase deficiency
Caused by a deficient glucose-6-phosphatase in the liver, kidneys, and intestinal mucosa
Results in impaired glycogen glucose leading to glycogen accumulation
Patients will typically present at age 3-4 months with hypoglycemia and lactic acidosis
o Hypoglycemia can often result in seizures
Examination reveals a doll-like face with rounded cheeks, thin extremities, short
stature, and a protuberant abdomen (due to hepatomegaly)
Selective survival bias
Will occur in case-control studies when the cases are selected from entire disease
population instead of those newly diagnosed
For example:
o Those recently diagnosed with a disease will generally have a higher survival
probability
o If patient has already had disease for a while, they will not survive as long
Recall bias
Applies to retrospective studies (primarily)
Results from an inaccurate recall of past exposure
Revolves around the idea that people who suffered adverse event are more likely to
recall risk factors (than people w/o such experiences)
Effect modification
Results when an external variable positive or negatively impacts the effect of a risk
factor on the disease of interest
For example:
o The risk of venous thrombosis is increased with estrogen therapy, and this effect
is augmented by smoking
Sensitivity = TP / (TP + FN)
Specificity = TN / (TN + FP)
PPV = TP / (TP + FP)
NPV = TN / (TN + FN)