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5028 Cards in this Set

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What is the major function of the D1 receptor?
relax renal vascular smooth muscle
What is the major function of the D2 receptor?
modulate transmitter release, esp. in brain
What is the major function of the H1 receptor (4)?
-pain
-pruritis
-produce mucous
-contract bronchioles
What is the major function of the H2 receptor (4)?
increase gastric acid secretion
What is the major function of the a1 receptor?
increase vascular smooth muscle contraction
What is the major function of the a2 receptor (2)?
-decrease sympathetic outflow
-decrease insulin release
What is the major function of the M1 receptor?
CNS
What is the major function of the B1 receptor (5)?
increase HR,
-inc. contractility,
-inc. renin release,
-inc. lipolysis,
-inc. aq. Humor formation
What is the major function of the M2 receptor?
decrease heart rate
Draw the brachial plexus
-
Nerve(s) associated with longus colli and scalene muscles
Nerve roots C5,6,7,8
What is the major function of the B2 receptor (3)?
vasodilation, bronchodilation, inc. glucagon release
What is the major function of the M3 receptor?
increase exocrine gland secretions
Nerve roots associated with median nerve
C6,7,8,T1
What is the major function of the V1 receptor?
increase vascular smooth muscle contraction
Nerve roots associated with ulnar nerve
C8,T1
Nerve roots associated with axillary nerve
C5,6
Nerve roots associated with radial nerve
C5,6,7,8
What is the major function of the V2 receptor?
increase water permeability and reabsorption in the renal collecting tubules
Nerve roots associated with medial antebrachial cutaneous nerve
C8,T1
Nerve roots associated with subclavius
C5,6
What second messenger system does Gi work through?
adenylcyclase reduces cAMP levels and protein kinase A is reduced
Nerve roots associated with medial brachial cutaneous nerve
T1
What second messenger system does Gq work through?
Lipids
phospholipase C--> I
PIP2 to IP3 + DAG
DAG inc. protein kinase C
IP3 inc. Intracellular Ca2+
Nerve roots associated with lateral pectoral nerve
C5,6,7
Nerve roots associated with 1st intercostal nerve
T1
What second messenger system does Gs work through?
adenylcyclase converts ATP to cAMP to phosphorylate protein kinase A
Nerve roots associated with medial pectoral nerve
C8,T1
Nerve roots associated with musculocutaneous nerve
C5,6,7
Nerve roots associated with suprascapular nerve
C5,6
Nerve roots associated with upper and lower subscapular nerve
C5,6
Nerve roots associated with dorsal scapular nerve
C5
Nerve roots and muscle associated with long thoracic nerve
C5,6,7
innervates serratus anterior muscle
Nerve roots associated with thoracodorsal nerve
C7,8
Autosomal recessive diseases (12)
-Alpha 1 antitrypsin deficiency
-infant polycystic kidney disease
-CF
-Albinism
-Phenylketonuria
-Thalassemias
-Sickle cell anemia
-hemochromatosis
-Glycogen storage diseases: Von Gierke's, Pompe's, Cori's, McArdle's
-Mucopolysaccharidoses (except Hunter's): Hurler's
-lysosomal storage dz / Sphingolipidoses (except Fabry's): Niemann Pick, Tay Sachs /Sandhoff's, Gaucher's, metachromatic leukodystrophy, Krabbe's.
most enzyme deficiency dz's with 6 exceptions (XR)
plus
-3 blood dz's
-Infant poly cystic kidney and alpha 1 antitryp
_____are associated with low folic acid intake during pregnancy.
Neural tube defects
90% of adult polycystic kidney disease cases are due to mutation in _____(gene and chromosome).
APKD1 (on chromosome 16)
95% of Down's syndrome cases are due to what?
meiotic nondisjunction of homologous chromosomes (4% due to Robertsonian translocation and 1% due to Down mosaicism)
A patent ductus arteriosus is maintained by what 2 things?
PGE synthesis +
low oxygen tension
Abnormalities associated with Marfan's syndrome:
Skeletal:
-tall
-long extremities, -hyperextendible joints,
-long tapering fingers/toes

Cardiovascular:
-cystic medial necrosis of aorta,
-aortic incompetence,
-aortic dissection,
-aortic aneurysm,
-floppy mitral valve

Ocular: subluxation of lenses
Adult polycystic kidney disease is associated with what other diseases or disorders?
polycystic liver disease
BERRY ANEURYSMS
mitral valve prolapse
what in liver and
what in heart
Baby with Fetal Alcohol Syndrome.
At risk for
-limb dislocation
-heart fistulas and
-lung fistulas
developmental retardation microcephaly
thin upper lip
indistinct philtrum
flat midface
short palpabral fissures

This child at risk for what other problems?
heart lung and limb
Becker's muscular dystrophy is due to____.
dystrophin gene mutations (not deletions) Becker's is less severe.
Besides pulmonary infections, what are some other consequences of CF?
infertility in males
malabsorption leading to fat-soluable vitamin deficiencies (A,D,E,K)
Causes of female pseudohermaphroditism:
congenital adrenal hyperplasia
or exogenous administration of androgens during pregnancy
i.e.
excessive and inappropriate exposure to androgenic steroids during early gestation
Characteristic murmur with a patent ductus arteriosus.
continuous, 'machine-like'
Adult polycystic kidney disease:
Signs and Sx's
Signs- bilateral massive enlargement of kidneys due to multiple large cysts
Sx's- pain, hematuria, HTN, and progressive renal failure
Characteristics of Duchenne's MD:
onset before age 5

weakness begins in pelvic girdle progresses superiorly

pseudohypertrophied calf
(fibrofatty replacement of muscle)

cardiac myopathy

Gower's maneuver (arms to get up)
progression of symptoms

hear probl
Characteristics of female pseudohermaphroditism:
ovaries present but external genitalia are virilized or ambiguous
Characteristics of Fragile X syndrome:
macro-orchidism (enlarged testes),

long face with a large jaw,

large everted ears,

and autism
Characteristics of Hereditary Spherocytosis:
-spheroid erythrocytes
-hemolytic anemia
-increased MCHC
-splenectomy is curative
Characteristics of male pseudohermaphroditism:
testes present, but external genitalia are female or ambiguous.
Children may do this to increase venous return with R-to-L shunt.
squat
Compare the cholesterol levels of heterozygores and homozygotes with familial hyperchlosterolemia:
Heterozygotes (1 : 500) cholest. levels around 300mg/dL Homozygotes (very rare) cholest. levels over 700 mg/dL.
Complications associated with homozygous familial hypercholesterolemia:
severe atherosclerotic disease early in life

tendon xanthomas (classically in the Achilles tendon)

Myocardial Infarction before age 20
Congenital heart defects are often due to which infection?
rubella
short arm of chromosome 5 46 XX or XY, 5p-

5 yr- Cry when you start preschool
Cri-du-chat syndrome results from a congenital deletion on which chromosome?
Define Meningocele:
meninges herniate through spinal canal defect picture on p. 229
Define Meningomyelocele:
meninges and spinal cord herniate through spinal canal defect picture on p.229
Define pseudohermaphroditism:
disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
Define Spina bifida occulta:
failure of bony spinal canal to close, but no structural herniation. (usually seen at lower vertebral levels)
Describe a true hermaphrodite:
46 XX or 47 XXY both ovary and testicular tissue present; ambiguous genitalia
Describe Eisenmenger's syndrome:
Uncorrected VSD, ASD, or PDA leads to progressive pulm. HTN. As pulm. resistance increases, the shunt changes from L to R to R to L, which causes late cyanosis (clubbing and polycythemia).
Does coarctation of the aorta affect males or females most commonly?
3:1 males to females
Down's syndrome is associated with increased or decreased levels of AFP?
decreased

AFP goes DOWN, with Down's Syndrome
what change in amniotic fluid AFP is evidence of a neural tube defect.
Elevated AFP
Explain the adult type of coarctation of the aorta and give some associated symptoms.
aortic stenosis distal to ductus arteriosus (postductal)

aDult is Distal to Ductus

notching of the ribs,
hypertension in upper extremities,
weak pulses in lower extermities (check femoral pulse)
Explain the infantile type of coarctation of the aorta. What is it commonly associated with?
aortic stenosis proximal to insertion of ductus arteriosus (preductal)
'INantile, IN close to the heart.'
associated with Turner's syndrome
Explain the pathogenesis of eisenmeinger's syndrome
In fetal period, shunt is R to L (normal). In neonatal period, lung resistance decreases and shunt becomes L to R with subsequent RV hypertrophy and failure (abnormal).
Explain the transposition of the great vessels.
Aorta leaves RV (anterior) and pulmonaryt trunk leaves LV (posterior) this leads to separation of systemic and pulmonary circulations.
Familial Adenomatous Polyposis features:
Colon becomes covered with adenomatous polyps after puberty

'FAP'

F= five (deletion on chromosome 5)

A= autosomal dominant inheritance

P= positively will get colon cancer (100% without resection)
Findings in Von Recklinghausen's disease:
-cafe-au-lait spots,
-neural tumors,
-Lisch nodules (pigmented iris hamartomas),
-skeletal disorders (scoliosis), and
-increased tumor susceptibility
Findings of Cri-du-chat syndrome:
-microcephaly,
-severe Mental Retardation,
-high pitched crying/mewing
-cardiac abnormalities
(Cri-du-chat is French for cry of the cat)
Findings with Huntington's disease:
depression
progressive dementia
choreiform movements
caudate atrophy
dec. GABA and Ach
list type of L-to-R shunt Frequency:
VSD>ASD>PDA
Gender identity is based on what two things?
1. external genitalia 2. sex of upbringing
Genetic anticipation of Fragile X syndrome may be shown by what?
Triplet repeat (CGG)n
Highest risk of development of fetal alcohol syndrome at __ to ___ weeks.
3 to 8
How does CF present in infancy?
Failure to thrive
How is CF diagnosed?
increased concentration of Cl- ions in sweat test
How is Muscular dystrophy diagnosed?
muscle biopsy
increased serum CPK
Huntington's disease manifests between the ages of :
20 and 50
Incidence and characteristics and Turner's syndrome:
1 in 3000 births
-short stature,
-ovarian dysgenesis,
-webbed neck,
-coarction of the aorta
-shield chest
-streak ovaries
Incidence and characteristics of double Y males:
1 in 1000 births
-phenotypically normal,
-very tall, severe acne,
-antisocial behavior(1-2%)
Incidence and characteristics of Edward's syndrome:
1 in 8000 births

Trisomy 18

clenched hands (flexion of fingers)
low-set ears,
micrognathia,
prominent occiput
congenital heart disease,
rocker bottom feet,
severe MR,
Death within 1 year of birth.
Incidence and characteristics of Klinefelter's syndrome:
1 in 850 births testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
Incidence and characteristics of Patau's syndrome:
1 in 6000 births

trisomy 13

cleft lip/palate,
microphthalmia,
microcephaly,
polydactly,
abnormal forebrain structures,
congenital heart disease
severe MR

Death within 1 year of birth.
What is the genetic problem in Marfan's?
fibrillin gene mutation
Mechanism of Fetal Alcohol Syndrome may be :
inhibition of cell migration
Most common form of male pseudohermaphroditism is ____.
testicular feminization (androgen insensitivity) results from a mutation in the androgen receptor gene (X linked recessive); blind-end vagina
Name 3 examples of L-to-R shunts. (late cyanosis) 'blue kids'
1. VSD (ventricular septal defect)
2. ASD (atrial septal defect
3. PDA (patent ductus arteriosus)
Name 3 examples of R-to-L shunts. (early cyanosis) 'blue babies'
The 3 T's'

1. Tetralogy of Fallot
2. Transposition of great vessels
3. Truncus arteriosus
Name 7 common congenital malformations
1. heart defects
2. Hypospadias (when the urethral canal is open on the undersurface of the penis or on the perineum)
3. Cleft lip w/ or w/out cleft palate
4. congenital hip dislocation
5. Spina Bifida
6. Anencephaly
7. Pyloric stenosis
Name 11 autosomal-dominant diseases:
1. Adult polycystic kidney disease
2. Familial hyperchloresterolemia (type IIA)
3. Marfan's syndrome
4. Von Hippel-Lindau disease
5. Huntington's disease
6. Familial Adenomatous Polyposis
7. Hereditary Spherocytosis
8. Achondroplasia
9. Von Recklinghausen's disease (NF1)
10. NF2
11. Tuberous Sclerosis

FAMiNe is DOMINANT on Hunger TV
Name an X-linked recessive muscular disease that leads to accelerated muscle breakdown.
Duchenne's Muscular Dystrophy
Name the 4 components of Tetralogy of Fallot.
PROVe
1. Pulmonary Stenosis
2. RVH (right ventricular hypertrophy)
3. Overriding aorta (overrides the VSD)
4. VSD (ventricular septal defect)
Neural tube defects (spina bifida and anencephaly) are associated with increased levels of ___ in the amniotic fluid and maternal serum.
AFP (alpha fetal protein)
Newborns of mothers who consumed significant amounts of alcohol (teratogen) during pregnancy are at risk for _______.
fetal alcohol syndrome
(the number one cause of congenital malformations in the U.S.)
Patau's syndrome = trisomy ___
13 (hint: Puberty - 13)
Pathogenesis of Cystic Fibrosis:
defective Cl- channel -->
secretion of abnormally thick mucus-->
plugs lungs, pancreas, and liver -->
recurrent pulmonary infections (Pseudomonas & Staph aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.
cyanotic spells occur with what?
Tetralogy of Fallot
Pyloric stenosis is associated with______.
polyhydramnios; projectile vomiting
T/F: Trisomy 21 is associated with advanced maternal age.
True (from 1 in 1500 births in women<20 to 1 in 25 births in women>45)
Tetralogy of Fallot leads to early cyanosis from a R-to-L shunt across the ____.
VSD
The defect in Von Recklinghausen's disease is found on which chromosome?
17 (hint: 17 letters in Recklinghausen's)
The gene responsible for Huntington's disease is located on chromosome__.
4 ; triplet repeat disorder
The incidence of neural tube defects is decreased by maternal ingestion of what?
folate
Transposition of great vessels is a common congenital heart disease in offspring of _____ mothers.
diabetic
Transposition of great vessels is not compatible with life unless what is present?
a shunt that allows adequate mixing of blood (VSD, PDA, or patent foramen ovale)
Trisomy 18 is also known as______.
Edward's syndrome (hint: Election age = 18)
Turner's syndrome is the most common cause of what?
primary amenorrhea
Von Hippel-Lindau disease characteristics:
hemangioblastomas of:
-retina
-medulla
-cerebellum

1/2 develop multiple bilateral renal cell carcinomas and other tumors
Von Hippel-Lindau disease is associated with the deletion of what gene?
VHL gene (tumor suppressor) on chromosome 3 (3p)
What are some findings of Down's syndrome?
mental retardation
flat facial profile
prominent epicanthal folds
simian crease
duodenal atresia
congenital heart disease (MC endocardial cushion defect->ASD)
Alzheimer's disease in individuals over 35
increased risk of ALL
What does a heart with Tetralogy of Fallot look like on x-ray?
boot-shaped due to RVH
What gender genetic disorder has been observed with increases frequency among inmates of penal institutions?
Double Y males (XYY)
What is different about the juvenile form of polycystic kidney disease?
it is recessive
What is Gower's maneuver?
requiring assistance of the upper extermities to stand up (indicates proximal lower limb weakness)
What is the cause of Duchenne's MD?
a deleted dystrophin gene (hint: 'D' for deletion)
What is the cause of Tetralogy of Fallot?
anterosuperior displacement of the infundibular septum
What is the incidence of Down's syndrome?
1 in 700 births
What is the most common cause of early cyanosis?
Tetralogy of Fallot
What is the most common chromosomal disorder and cause od congenital mental retardation?
Down's syndrome (trisomy 21)
What is the most common congenital cardiac anomaly?
VSD
What is the most common lethal genetic disease of Caucasians?
Cystic Fibrosis
What is the second most common cause of mental retardation?
Fragile X syndrome
What is the underlying cause of Cystic Fibrosis incl. chromosome?
Autosomal - recessive defect in CFTR gene on chromosome 7
What is the underlying cause of Familial hypercholesterolemia?
defective or absent LDL receptor leading to elevated LDL
1. What is used to close a patent ductus arteriosus?
2. What is used to keep it open?
1. Indomethacin
2. PGE (may be necessary to sustain life in conditions such as transposition of the great vessels)
Which gene is affected in Fragile X?
methylation and expression of the Fragile X Mental Retardation 1 gene (FMR 1 gene)
Which genetic gender disorder has an inactivated X chromosome (Barr body)?
Klinefelter's syndrome
Why are female carriers of X-linked recessive disorders rarely affected?
because of random inactivation of X chromosomes in each cell
X-linked recessive disorders (10)
Bruton's agammaglobulinemia
Ocular albinism
Wiscott-Aldrich syndrome
Fragile X
Fabry's
G6PD deficiency
Hemophilia A and B
Hunter's syndrome
Lesch-Nyhan syndrome
Duchenne's MD

BOW to the Fair queen w/ Good X genes and dont' lose HOLD of your head.
BOW to the FFair queen w/ Good X genes and dont' lose HHOLD of your head.
XO =
Turner's syndrome (think: 'hugs and kisses' -XO- from Tina Turner)
XXY =
Klinefelter's syndrome one of the most common causes of hypogonadism in males
Approximately what percentage of brain tumors arise from metastasis?
0.5
Are basal cell carcinomas invasive?
Locally invasive but rarely metastasize
Are Ewing's sarcomas likely to metastasize?
Yes. They are extremely aggressive with early metastasis. However, they are responsive to chemotherapy.
Are meningiomas resectable?
Yes
Are squamous cell carcinomas of the skin invasive?
Locally invasive but rarely metastasize
Are the majority of adult tumors supratentorial or infratentorial?
Supratentorial
Are the majority of childhood tumors supratentorial or infratentorial?
Infratentorial
Common histopathology often seen in squamous cell carcinomas of the skin?
Keratin pearls
Define anaplasia
Abnormal cells lacking differentiation; like primitive cells of the same tissue. Often equated with undifferentiated malignant neoplasms. Tumor giant cells may be formed.
Define dysplasia
Abnormal growth with loss of cellular orientation, shape, and size in comparison to normal tissue maturation. It is reversible but is often a preneoplastic sign.
Define hyperplasia
Increase in the number of cells (reversible)
Define metaplasia
One adult cell type is replaced by another (reversible). It is often secondary to irritation and/or environmental exposure (e.g. squamous metaplasia in the trachea and bronchi of smokers)
Define neoplasia
Clonal proliferation of cells that is uncontrolled and excessive
Do oncogenes cause a gain or loss of function?
Gain of function
Do tumor suppressor genes cause a gain or loss of function?
Loss of function. Both alleles must be lost for expression of disease
Does a melanoma have a significant risk of metastasis?
Very significant risk! The depth of the tumor often correlates with the risk of metastasis.
From what cells do meningiomas most commonly arise?
Arachnoid cells external to the brain
benign tumors of epithelial origin are called?
1. Adenoma 2. Papilloma
2 Names for a malignant tumor of mucosal epithelial origin.
1. Adenocarcinoma 2. Papillary carcinoma
Give 2 examples of malignant tumors of blood cell (mesenchymal) origin.
1. Leukemia 2. Lymphoma
Give Name for a benign tumor of blood vessel origin.
Hemangioma
Name for a benign tumor of bone origin.
Osteoma
Give name for benign tumor of more than one cell type.
Mature teratoma
Give name for a benign tumor of skeletal muscle (mesenchymal) origin.
Rhabdomyoma
Give an name for a benign tumor of smooth muscle origin.
Leiomyoma
Name for malignant tumor of blood vessel origin.
Angiosarcoma
(mesenchymal)
Give an example of a malignant tumor of bone origin.
Osteosarcoma
(mesenchymal)
Give an example of a malignant tumor of more than one cell type.
Immature teratoma
Give an example of a malignant tumor of skeletal muscle origin.
Rhabdomyosarcoma
(mesenchymal)
Give an example of a malignant tumor of smooth muscle (mesenchymal) origin.
Leiomyosarcoma
Give an example of a neoplasm associated with Down's Syndrome.
Acute Lymphoblastic Leukemia (ALL)

we ALL fall DOWN
We ALL fall DOWN
How are tumor markers used?
Tumor markers are used to confirm diagnosis, to monitor for tumor recurrence, and to monitor the response to therapy. They should not be used as a primary tool for diagnosis.
How is prostatic adenocarcinoma most commonly diagnosed?
Digital rectal exam (detect hard nodule) or by prostate biopsy
How often do primary brain tumors undergo metastasis?
Very rarely
In what population is osteochondroma most often found?
Usually men under the age of 25
In which age group is prostatic adenocarcinoma most common?
Men over the age of 50
Is malignant transformation in osteochondroma common?
Malignant transformation to chondrosarcoma is rare
Name 1 common tumor staging system.
TNM system T= size of tumor, N=node involvement, and M=metastases
Name 3 herniation syndromes that can cause either coma or death when the herniations compress the brainstem
1. Downward transtentorial (central) herniation 2. Uncal herniation 3. Cerebellar tonsillar herniation into the foramen magnum
Name 4 factors that predispose a person to osteosarcoma.
1. Paget's disease of bone
2. Bone infarcts
3. Radiation
4. Familial retinoblastoma
Name 4 possible routes of herniation in the brain
1. Cingulate herniation under the falx cerebri 2. Downward transtentorial (central) herniation 3. Uncal herniation 4. Cerebellar tonsillar herniation into the foramen magnum
Name 5 primary brain tumors with peak incidence in adulthood.
1. Meningioma
2. Glioblastoma multiforme
3. Oligodendroglioma
4. Schwannoma
5. Pituitary adenoma
Name 5 primary brain tumors with peak incidence in childhood.
1. Medulloblastoma
2. Hemangioblastoma
3. Ependymomas
4. Low-grade astrocytoma
5. Craniopharyngioma

Brain tumors get
Children at the HELM
Name 5 sites from which tumor cells metastasize to the brain.
1. Lung
2. Breast
3. Skin (melanoma)
4. Kidney (renal cell carcinoma)
5. GI
Name a common histopathological sign of basal cell carcinoma nuclei
The nuclei of basal cell tumors have 'palisading' nuclei
Name a population at a greater risk for melanoma.
Fair-skinned people (blue eyes and red hair have also been considered as factors)
Name the 5 primary tumors that metastasize to the liver
1. Colon
2. Stomach
3. Pancreas
4. Breast
5. Lung
Name two of the most common sites of metastasis after the regional lymph nodes
The liver and the lung
Name two presenting sequelae of a pituitary adenoma.
1. Bitemporal hemianopsia (due to pressure on the optic chiasm) 2. Hypopituitarism
On which chromosome is the p53 gene located?
17p
On which chromosome is the Rb gene located?
13q
On which chromosomes are the BRCA genes located?
BRCA 1 is on 17q and BRCA 2 is on 13q
Out of the 6 primary tumors that metastasize to bone, which two are the most common?
Metastasis from the breast and prostate are the most common
What 2 cancers are associated with EBV?
1. Burkitt's lymphoma 2. Nasopharyngeal carcinoma
What 2 neoplasms are associated with AIDS?
1. Aggressive malignant lymphomas (non-Hodgkins) 2. Kaposi's sarcoma
What 2 tumors are associated with Autoimmune disease (e.g. Hashimoto's thyroiditis, myasthenia gravis, etc.)?
Benign and malignant thymomas
What 2 neoplasms are associated with Paget's disease of bone?
1. Secondary osteosarcoma 2. Fibrosarcoma
What 2 neoplasms are associated with facial angiofibroma, seizures, and mental retardation?
Tuberous sclerosis
1. Astrocytoma
2. Cardiac rhabdomyoma
What are 2 characteristic findings in carcinoma in situ?
1. Neoplastic cells have not invaded the basement membrane 2. High nuclear:cytoplasmic ratio and clumped chromatin
What are 2 characteristic findings of an invasive carcinoma?
1. Cells have invaded the basement membrane using collagenases and hydrolases 2. Able to metastasize if they reach blood or lymphatic vessels.
What are 2 neoplasms associated with Xeroderma pigmentosum?
1. Squamous cell carcinoma of the skin 2. Basal cell carcinoma of the skin
What are 3 disease findings associated with Alkaline Phosphatase?
1. Metastases to bone 2. Obstructive biliary disease 3. Paget's disease of bone
What are 6 primary tumors that metastasize to bone?
1. Breast
2. Prostate
3. Kidney
4. Lung
5. Testes
6. Thyroid
What are a common histopathological finding of meningiomas?
Psammoma bodies. These are spindle cells concentrically arranged in a whorled pattern.
What are ependymomas?
Ependymal cell tumors most commonly found in the 4th ventricle. May cause hydrocephalus
What are the steps in the progression of neoplasia?
1. Normal
2. Hyperplasia
3. Carcinoma In Situ/Preinvasive
4. Invasion
What are two signs of bone metastases in prostatic adenocarcinoma?
Alkaline phosphatase &
PSA (prostate-specific antigen)
Elevations in serum
What are two useful tumor markers in prostatic adenocarcinoma?
Prostatic acid phosphatase and prostate-specific antigen (PSA)
What can be associated with the risk of melanoma?
Sun exposure
What cancer is associated with HBV and HCV (Hep B and C viruses)?
Hepatocellular carcinoma
What cancer is associated with HHV-8?
Kaposi's carcinoma
Kaposi's sarcoma-associated herpes virus KSHV
What cancer is associated with the HTLV-1 virus?
Adult T-cell leukemia
What cancers are commonly associated with HPV (human papilloma virus)?
Cervical carcinoma, penile, and anal carcinoma
What causes the local effect of a mass?
Tissue lump or tumor
What causes the local effect of a nonhealing ulcer?
Destruction of epithelial surfaces (e.g. stomach, colon, mouth, bronchus)
What causes the local effect of a space-occupying lesion?
-Raised ICP w/ brain neoplasms.
-Anemia w/ bone marrow replacement.
-CN deficits w/ compression
What causes the local effect of bone destruction?
Pathologic fracture or collapse of bone
What causes the local effect of edema?
Venous or lymphatic obstruction
What causes the local effect of hemorrhage?
Caused by ulcerated area or eroded vessel
What causes the local effect of inflammation of a serosal surface?
Pleural effusion, pericardial effusion, or ascites
What causes the local effect of obstruction in the biliary tree?
Jaundice
What causes the local effect of obstruction in the bronchus?
Pneumonia
What causes the local effect of obstruction in the left colon?
Constipation
What causes the local effect of pain?
Any site with sensory nerve endings. Remember that tumors in the brain are usually painless.
What causes the local effect of perforation of an ulcer in the viscera?
Peritonitis or free air
What causes the local effect of seizures?
Tumor mass in the brain.
What causes the localized loss of sensory or motor function?
Compression or destruction of nerve (e.g. recurrent laryngeal nerve by lung or thyroid cancer causes hoarseness)
What causes the paraneoplastic effect gout?
Hyperuricemia due excess nucleic acid turnover (secondary to cytotoxic therapy of various neoplasms)
What causes the paraneoplastic effect of Cushing's disease?
ACTH or ACTH-like peptide (secondary to small cell lung carcinoma)
What causes the paraneoplastic effect of hypercalcemia?
PTH-related peptide, TGF-a, TNF-a, IL-2 (secondary to squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis)
What causes the paraneoplastic effect of Lambert-Eaton syndrome?
Antibodies against presynaptic Ca2+ channels at NMJ (Thymoma, bronchogenic carcinoma)
What causes the paraneoplastic effect of Polycythemia?
Erythropoietin (secondary to renal cell carcinoma)
What causes the paraneoplastic effect of SIADH?
ADH or ANP (secondary to small cell lung carcinoma and intracranial neoplasms)
What chemical carcinogen is commonly associated with the centrilobar necrosis and fatty acid change?
CCL4
What chemical carcinogen is commonly associated with the esophagus and stomach?
Nitrosamines
What chemical carcinogen is commonly associated with the lungs?
Asbestos (Causes mesothelioma and bronchogenic carcinoma)
What chemical carcinogen is commonly associated with the skin (squamous cell)?
Arsenic
What chemical carcinogen(s) are commonly associated with the liver?
Aflatoxins and vinyl chloride
What is a chondrosarcoma?
Malignant cartilaginous tumor.
What is a common genetic finding in Ewing's sarcoma?
11;22 translocation
What is a common gross pathological sign seen in Ewing's sarcoma?
Characteristic 'onion-skin' appearance of bone
What is a common origin of a chondrosarcoma?
May be of primary origin or from osteochondroma
What is a common sign found on the x-ray of a person with osteosarcoma?
Codman's triangle (from elevation of periosteum)
What is a craniopharyngioma?
Benign childhood tumor. Often confused with pituitary adenoma because both can cause bitemporal hemianopsia. Calcification of the tumor is common.
What is a Ewing's sarcoma?
Anaplastic small cell malignant tumor.
What is a giant cell tumor?
Locally aggressive benign tumor around the distal femur, proximal tibial region.
What is a gross pathological sign of basal cell carcinoma?
Pearly papules
What is a helpful mnemonic to remember the neoplasm associated with Down's Syndrome?
We ALL go DOWN together.
What is a helpful mnemonic to remember the site of metastasis to the brain?
Lots of Bad Stuff Kills Glia
What is a helpful mnemonic to remember the types of cancer that metastasize to the liver?
Cancer Sometimes Penetrates Benign Liver
What is a helpful mnemonic to remember what tumors metastasize to bone?
BLT with a Kosher Pickle
What is a Hemangioblastoma?
Most often a cerebellar tumor. Associated with von Hippel Lindau syndrome when found with retinoblastoma.
What is a low-grade astrocytoma?
Diffusely infiltrating glioma. In children, it is most commonly found in the posterior fossa.
What is a medulloblastoma?
Highly malignant cerebellar tumor. A form of primitive neuroectodermal tumor (PNET). Can compress 4th ventricle causing hydrocephalus
What is a neoplasm associated with actinic keratosis?
Squamous cell carcinoma of the skin
What is a neoplasm associated with Barrett's esophagus (chronic GI reflux)?
Esophageal adenocarcinoma
What is a neoplasm commonly associated with chronic atrophic gastritis, pernicious anemia, and postsurgical gastric remnants?
Gastric adenocarcinoma
What is an oligodendroglioma?
A relatively rare, slow growing, benign tumor.
What is CEA (carcinoembryonic antigen)?
Very nonspecific antigen produced by 70% of colorectal and pancreatic cancers and by gastric and breast carcinoma
What is considered a precursor to squamous cell carcinoma?
Actinic keratosis
What is considered to be a precursor to malignant melanoma?
Dysplastic nevus
What is meant by the term tumor grade?
Histologic appearance of the tumor. Usually graded I-IV based on degree of differentiation and number of mitoses per high-power field.
What is meant by the term tumor stage?
Based on site an size of primary lesion, spread to regional lymph nodes, and presence of metastases.
What is the characteristic appearance of a giant cell tumor on an x-ray?
Characteristic 'double bubble' or 'soap bubble' appearance
What is the common histopathology associated with Ependymomas?
Characteristic perivascular rosettes. Rod-shaped blepharoblasts (basal ciliary bodies) found near the nucleus.
What is the common histopathology associated with Hemangioblastoma?
Foamy cells and high vascularity are characteristic. Can produce EPO and lead to polycythemia.
What is the common histopathology associated with medulloblastomas?
Rosettes or perivascular pseudorosette pattern of cells
What is the common histopathology associated with oligodendrogliomas?
Fried egg' appearance of cells in tumor. Often calcified.
What is the common histopathology associated with schwannoma?
Antoni A=compact palisading nuclei; Antoni B=loose pattern
What is the common histopathology found in Glioblastoma multiforme?
Pseudopalisading' tumor cells border central areas of necrosis and hemorrhage
What is the differentiation pattern of normal cells?
Basal to apical differentiation
What is the histopathology commonly associate with giant cell tumors?
Spindle-shaped cells with multi-nucleated giant cells.
What is the most common benign bone tumor?
Osteochondroma
What is the most common location of basal cell carcinoma of the skin?
Usually found in sun-exposed areas of the body.
What is the most common location of osteosarcoma?
Commonly found in the metaphysis of long bones
What is the most common organ to 'send' metastases?
The lung is the most common origin of metastases. The breast and stomach are also big sources.
What is the most common organ to receive metastases?
Adrenal glands. This is due to their rich blood supply. The medulla usually receives metastases first and then the rest of the gland.
What is the most common population to have chondrosarcoma?
Men age 30-60 years old
What is the most common primary brain tumor?
Glioblastoma multiforme (grade IV astrocytoma)
What is the most common primary malignant tumor of bone?
Osteosarcoma
What is the most common type of pituitary adenoma?
Prolactin secreting
What is the most likely population to have Ewing's sarcoma?
Boys under 15 years old.
What is the origin of a craniopharyngioma?
Derived from the remnants of Rathke's pouch
What is the origin of a Pituitary adenoma?
Rathke's pouch
What is the origin of the Schwannoma?
Schwann cell origin. Often localized to the 8th cranial nerve (acoustic schwannoma). Bilateral schwannoma found in NF2.
What is the peak incidence of giant cell tumor?
20-40 years old
What is the peak incidence of osteosarcoma?
Men 10-20 years old
What is the prognosis for Glioblastoma multiforme?
Prognosis is grave. Usually only have a year life expectancy.
What is the second most common primary brain tumor?
Meningioma
What is the third most common primary brain tumor?
Schwannomas
What neoplasias are associated with a-fetoprotein?
Hepatocellular carcinoma and nonseminomatous germ cell tumors of the testis(eg. yolk sac tumor).
What neoplasias are associated with B-hCG?
Hydatidiform moles, Choriocarcinomas, and Gestational trophoblastic tumors.
What neoplasias are associated with CA-125?
Ovarian and malignant epithelial tumors
What neoplasias are associated with S-100?
Melanoma, neural tumors, and astrocytomas
What neoplasm is associated with Cirrhosis (due to alcoholism, Hep B, or Hep C)
Hepatocellular carcinoma
What neoplasm is associated with Dysplastic nevi?
Malignant melanoma
What neoplasm is associated with Immunodeficiency states?
Malignant lymphomas
What neoplasm is associated with Plummer-Vinson syndrome (atrophic glossitis, esophageal webs, and anemia; all due to iron deficiency)
Squamous cell carcinoma of the esophagus
What neoplasm is associated with ulcerative colitis?
Colonic adenocarcinoma
What oncogene is associated with breast, ovarian, and gastric carcinomas?
erb-B2
What oncogene is associated with Burkitt's lymphoma?
c-myc
What oncogene is associated with colon carcinoma?
ras
What oncogene is associated with Follicular and undifferentiated lymphomas (inhibits apoptosis)?
bcl-2
What tumor marker is associated with Prostatic carcinoma?
PSA (Prostatic acid phosphatase)
What tumor suppressor gene is associated with Retinoblastoma and osteosarcoma?
Rb gene
What type of metastases are common in the late stages of prostatic adenocarcinoma?
Osteoblastic metastases in bone
What type of neoplasm is associated with Acanthosis nigricans (hyperpigmentation and epidermal thickening)
Visceral malignancies (stomach, lung, breast, and uterus)
What type of skin cancer is associated with excessive exposure to sunlight or arsenic exposure?
Squamous cell carcinoma
Where are chondrosarcomas usually located?
Pelvis, spine, scapula, humerus, tibia, or femur.
Where are Ewing's sarcomas most commonly found?
Diaphysis of long bones, pelvis, scapula, and ribs
Where are Glioblastoma multiformes found?
Cerebral hemispheres
Where do giant cell tumors most commonly occur?
At epiphyseal end of long bones
Where do meningiomas most commonly occur?
Convexities of hemispheres and parasagital region
Where do oligodendrogliomas most often occur?
Most often found in the frontal lobes
Where do osteochondromas commonly originate?
Long metaphysis
Where do squamous cell carcinomas most commonly occur?
Hands and face
Where does prostatic adenocarcinoma most commonly arise?
From the posterior lobe (peripheral zone) of the prostate gland
Which has more prognostic value: tumor stage or grade?
Stage
Which is more common: metastasis to bone or primary tumors of bone?
Metastatic bone tumors are far more common than primary tumors
Which is more common: metastasis to the liver or primary tumors of the liver?
Metastasis to the liver is more common
Which tumor suppressor gene is associated with most human cancers and the Li-Fraumeni syndrome?
p53
Which tumor suppressor genes are associated with breast and ovarian cancer?
BRCA 1 and 2
___% of African-Americans carry the HbS trait, and ___% have the disease.
8%; 0.2
________ = defect of platelet aggregation
Glanzmann's thrombasthenia
________ disease = defect of platelet adhesion
Bernard-Soulier
_____= activation of coagulation cascade leading to microthrombi and global consumption of platelets, fibrin, and coagulation factors.
DIC (Disseminated intravascular coagulation)
2 therapies for sickle cell anemia:
1. Hydroxyurea (increased HbF) 2. bone marrow transplantation
50% of Hodgkin's cases are associated with which virus?
EBV
7 causes of normocytic normochromic anemia:
1. hemorrhage
2. enzyme defects (G6PD & PK deficiency)
3. RBC membrane defects (hereditary spherocytosis)
4. Bone Marrow disorders (aplastic anemia, leukemia)
5. Hemoglobinopathies (sickle cell)
6. Autoimmune hemolytic anemia
7. Anemia of chronic disease
Antiplatelet antibodies and increased megakaryocytes are seen in ____.
ITP
Auer rods, myeloblasts, adults =
AML
bcl-2 activation is associated with which translocation and which lymphomas?
t(14;18) - Follicular lymphomas
bcr-abl hybrid is associated with which translocation and which leukemia?
t(9;22) - CML
Blood smear of a Multiple Myeloma patient would show what?
RBCs stacked like poker chips (rouleau formation)
Burkitt's lymphoma: '______' appearance associated with what virus? endemic where?
starry sky' EBV Africa
c-myc activation is associated with which translocation and which lymphoma?
t(8;14) - Burkitt's
Causes of aplastic anemia:
alkylating agents, antimetabolites,
benzene,
chloramphenicol,
Faconi's anemia,
radiation,
viral (HCV,CMV,EBV, herpes zoster-varicella),
idiopathic (immune-mediated, primary stem cell defect)
Causes of platelet abnormalities:
ITP, TTP, drugs, DIC
CFU-GM (colony forming unit-granulocyte-monocyte) gives rise to which cells?
monocytes, neutrophils and basophils
CLL is very similar to what lymphoma?
SLL (small lymphocytic lymphoma)
Coagulation factor defects cause: (3)
(macrohemorrage)
1. Hemarthroses (bleeding into joints) 2. easy bruising 3. prolonged PT and/or PTT
Common cause of macrocytic megalobalstic anemia:
Vit. B12/folate deficiency
common in children, lymphoblasts, most responsive to therapy =
ALL
Compare Multiple Myeloma with Waldenstrom's macroglobinemia:
Waldenstrom's also has an M spike, but large amounts of IgM are produced (not IgA or IgG), no lytic lesions
Complications often seen in homozygotes (sickle cell disease) include:
-inc. risk of encapsulated org. infection
-Salmonella osteomyelitis
-painful crisis (vaso-occlusive)
-aplastic crisis w/ B19
parvovirus
-splenic sequestration crisis
-autosplenectomy
Describe the RBCs of a parient with Hereditary spherocytosis.
RBCs are small, round, with no central pallor less membrane therefore increased MCHC
FAB classification L1:
ALL-null, ALL-common
FAB classification L2:
ALL- T
FAB classification L3:
ALL- B
FAB classification M1:
AML (without maturation)
FAB classification M2:
AML (with maturation)
FAB classification M3:
acute promyelocytic leukemia
FAB classification M4:
acute myelomonocytic leukemia
FAB classification M5:
acute monocytic leukemia
FAB classification M6:
acute erythroleukemia
FAB classification M7:
acute megakaryocytic leukemia
General considerations of leukemias:
-inc # leukocytes in blood & bone marrow
-leukemic cell infiltrates in liver, spleen, and lymph nodes
Genetics associated with Burkitt's lymphoma:
t(8;14) c-myc gene moves next to heavy chain Ig gene (14)
Hb Barts =
Gamma 4 tetramers, lacks all 4 alpha globin genes
Hb Barts results in what?
hydrops fetalis and intrauterine fetal death
Hb H =
Beta 4 tetramers, lacks 3 alpha globin genes
Hereditary spherocytosis causes intrinsic, extravascular hemolysis due to a _____ defect.
spectrin
Hereditary spherocytosis is associated with what other problems?
gallstones, splenomegaly, anemia and jaundice
Hereditary spherocytosis is distinguished from warm antibody hemolysis by what test?
Direct Coomb's test (Hereditary spherocytosis is Coomb's negative)
Hodgkin's or NHL: which is associated with HIV &amp;amp; immunosuppression?
NHL
Hodgkin's or NHL: which is associated with mediastinal lymphadenopathy?
Hodgkin's
Hodgkin's or NHL: which one displays a bimodal distribution?
Hodgkin's (young and old)
How does Multiple Myeloma affect calcium levels?
destructive bone lesions cause hypercalcemia (punched-out lytic bone lesions can be seen on x-ray)
In _____, the alpha globin chain is underproduced.
alpha thalassemia
In _____, the beta chain is underproduced.
Beta-minor thalassemia (heterozygote)
In ______, the beta chain is absent.
Beta-major thalassemia (homozygote)
In anemia of chronic disease, are these values increased or decreased? 1. TIBC 2. ferritin 3. serum iron 4. storage iron in marrow macrophages 5. % sat.
1. TIBC-dec.
2. ferritin-inc.
3. serum iron-dec.
4. storage iron in marrow
macrophages-inc.
5. % sat-normal
In Beta Thalassemia, cardiac failure is often due to what?
secondary hemochromatosis (due to transfusions)
In which hemorrhagic disorder is PT increased?
DIC
In which hemorrhagic disorders is PTT increased? (4)
1. Hemophilia A 2. Hemophilia B 3. von Willibrand's disease 4. DIC
increased or decreased in iron deficiency anemia? 1. TIBC 2. ferritin 3. serum iron
1. increased 2. decreased 3. decreased
Is Hodgkin's more common in men or women?
men (except nodular sclerosing type)
Lab findings of DIC:
increased PT and PTT, increased fibrin split products (D-dimers), decreased platelet count
Lymphoblastic lymphoma commonly presents with what?
ALL and mediastinal mass
Lymphomas derived from the B cell lineage:
ALL (B cell) Lymphoblastic lymphoma,
CLL (B) Lymphocytic lymphoma,
Follicular center cell lymphoma,
Immunoblastic lymphoma (B),
Plasmacytoid lymphocytic lymphoma and
myeloma
Lymphomas derived from the T cell lineage:
ALL (T cell) Lymphoblastic lymphoma, CLL (T) Lymphocytic lymphoma, Immunoblastic lymphoma (T), Sezary syndrome and mycosis fungoides
Macrocytic anemia is defined as MCV&amp;gt;____.
100
Marrow failure due to leukemia can lead to (3)
1. anemia (dec. RBCs) 2. infections (dec. WBCs) 3. hemorrhage (decreased platelets)
Microcytic, hypochromic anemia = MCV&amp;lt;____.
80
most commonly associated with Philadelphis chromosome, myeloid stem cell proliferation, may accelerate to AML =
CML
Name 3 coagulopathies:
1. Hemophilia A 2. Hemophilia B 3. von Willibrand's disease
Name 3 etiologies of microcytic, hypochromic anemia:
1. iron deficiency 2. Thalassemias 3. lead poisoning
Name 5 hemorrhagic disorders that exhibit increased bleeding time.
1. Qualitative platelet defects 2. Vascular bleeding 3. Thrombocytopenia 4. Von Willibrand's disease 5. DIC
Name 5 types of NHL:
1. Small lymphocytic lymphoma
2. Follicular lymphoma (small cleaved cell)
3. Diffuse large cell
4. Lymphoblastic lymphoma
5. Burkitt's lymphoma
Name 9 chronic myeloid leukemias:
CML, Polycythemia rubra vera, CML, Myelofibrosis, idiopathic thrombocythemia, (chronic monocytic, chronic myelomonocytic, eosinophilic, chronic erythroid) *last 4 are rare*
Nodal involvement and spread of Hodgkin's vs. NHL:
Hodgkin's: localized, single group of nodes, extranodal rare, contiguous spread NHL: multiple, peripheral nodes, extranodal involvement common, noncontiguous spread
Normal values: 1. TIBC 2. Serum iron 3. % sat.
1. TIBC 250-400 micro grams/ dl 2. 50-150 3. 20-50 %
older adults, lymphadenopathy, hepatosplenomegaly, few symptoms, indolent course, increased smudge cells in peripheral blood smear, warm Ab autoimmune hemolytic anemia =
CLL
Other causes of macrocytic anemia (2)
1. drugs that block DNA synthesis (e.g., sulfa drugs, AZT) 2. marked reticulocytosis
Pathologic features of aplastic anemia:
pancytopenia with normal cell morphology, hypocellular bone marrow with fatty infiltration
Peak incidence of NHL between what ages?
20-40
Philadelphia chromosome=
t(9;22), bcr-abl
Plasma cells in Multiple Myeloma produce large amounts of what?
IgG (55%) and IgA (25%)
Platelet abnormalities (microhemorrage) lead to: (4)
1. mucous membrane bleeding 2. petechiae 3. purpura 4. prolonged bleeding time
PMNs are hypersegmented in ____ .
Vit. B 12 and folate deficiencies
PT and PTT: which one measures the intrinsic and which one measures the extrinsic path?
PT (extrinsic) PTT (intrinsic)
Rank the prognoses of the different types of Hodgkin's:
Nodular Sclerosing and Lymphocyte Predominant= excellent
Mixed Cellularity= intermediate
Lymphocyte Depletion= poor
Schistocytes are characteristic of ___.
Mechanical damage
-DIC
-Traumatic hemolysis
Sickle cell heterozygotes (sickle cell trait) are relatively ____-resistant.
malaria; (balanced polymorphism)
Symptoms of aplastic anemia:
fatigue, malaise, pallor, purpura, mucosal bleeding, petechiae, infection
Thalassemia is prevalent in which populations?
Mediterranean (hint: thalassa=sea. Think, thalaSEAmia)
The lymphoid stem cell gives rise to: (2)
T cells and B cells
The majority of NHL involve T cells or B cells?
B cells (except lymphoblastic T cell origin)
Treatment of aplastic anemia:
withdrawal of offending agent, allogenic bone marrow transplantation, RBC and platelet transfusion, G-CSF or GM-CSF
What are 2 indications of hemolysis?
1. decreased serum haptoglobin 2. increased serum LDH
What are constitutional signs/symptoms?
(mostly seen in Hodgkin's) low grade fever, night sweats, weight loss
What are some other causes of DIC?
gram-negative sepsis, transfusion, trauma, malignancy, acute pancreatitis, and nephrotic syndrome
What genetics are involved with follicular lymphoma (small cleaved cell)?
t(14;18) bcl-2 expression
What is another Beta chain mutation in which patients have a milder disease than Hb SS patients?
HbC defect. patients can be HbC or HbSC (1 of each mutant gene)
What is aplastic anemia?
pancytopenia characterized by severe anemia, neutropenia, and thrombocytopenia caused by destruction of multipotent myeloid stem cells, with inadequate production or release of differentiated cell lines.
What is compensatorily increased in both forms of Beta Thalassemia?
fetal hemoglobin (it is inadequate, however)
What is found in the urine of patients with Multiple Myeloma?
Ig light chains (Bence Jones protein)
What is it called when CML
--> AML?
blast crisis
What is the characteristic cell of Hodgkin's lymphoma?
Reed-Sternberg cell (decreased numbers of RS cells indicates a better prognosis)
What is the M spike?
the monoclonal immunoglobin spike on serum electrophoresis
What is the most common bleeding disorder?
von Willibrand's disease
What is the most common cause of DIC?
obstetric complications
What is the most common primary tumor arising within bone in adults?
Multiple Myeloma
What is the name of a chronic T cell leukemia?
Sezary syndrome
What mutation causes sickle cell anemia?
a single AA replacement in the Beta chain (normal glutamic acid with valine)
What other problems result from Multiple Myeloma?
renal insufficiency, increased susceptibility to infections, anemia, and amyloidosis
What precipitates sickling of cells?
low oxygen or dehydration
What test is used to confirm Hereditary spherocytosis?
osmotic fragility test
What test is used to distinguish between immune vs. non-immune RBC hemolysis?
Direct Coomb's test
What type of cell is cancerous in Multiple Myeloma and what does it resemble?
Monoclonal plasma cell, 'fried egg' appearance
Which 2 hemorrhagic disorders have decreased platelet counts?
1. thrombocytopenia 2. DIC
Which 2 types of NHL occur in children?
lymphoblastic lymphoma, and Burkitt's lymphoma (20% of diffuse large cell type too)
Which Beta Thalassemia results in severe anemia?
Beta Thal. major, (requires blood transfusions)
Which coagulation factors are a part of the intrinsic and which are a part of the extrinsic path?
(extrinsic) = Factors II, V, VII, and X (intrinsic) = all factors except VII and XIII
Which coagulation factors are deficient in each of the Hemophilias?
Hemophilia A (factor VIII deficiency) Hemophilia B (factor IX deficiency)
Which one is associated with neurological problems, folate deficiency or Vit. B12 deficiency?
Vit. B12
Which type of Hodgkin's accounts for 6% of cases and which type is the most rare.
LP (lymphocyte predominant) - 6%
LD (lymphocyte depleted) - rare
Which type of Hodgkin's commonly affects males under 35?
LP
Which type of Hodgkin's commonly affects older males and is associated with disseminated disease?
LD
Which type of Hodgkin's has the most Reed Sternberg cells?
Mixed Cellularity
Which type of Hodgkin's is characterized by collagen banding?
NS (nodular sclerosing)
Which type of Hodgkin's is the most common? (65-75%)
NS (nodular sclerosing)
Which type of Hodgkin's is the second most common? (25%)
MC (mixed cellularity)
Which type of Hodgkin's primarily affects young adults, women>men?
NS
Which type of NHL clinically presents like CLL?
small lymphocytic lymphoma
Which type of NHL is difficult to cure?
follicular lymphoma
Which type of NHL is most common in children?
Lymphoblastic lymphoma (very aggressive)
Which type of NHL is the most common type in adults?
follicular lymphoma (small cleaved cell)
Which types of NHL involve T cells?
Lymphoblastic lymphoma (immature T cells) 20% of Diffuse large cell NHL (mature T cells)
With iron overload (hemosiderosis) are values increased or decreased? 1. TIBC 2. serum iron 3. %sat.
1. TIBC normal 2. Serum iron increased 3. % sat. increased (100%)
A patient with gallstones may present with Charcot's triad. What comprises the triad?
(1)epigastric/RUQ pain (2)fever (3)jaundice
Failure of copper to circulate in what form causes Wilson's disease?
ceruloplasmin
How can one distinguish between Dubin-Johnson syndrome and Rotor's syndrome?
Rotor's syndrome presents similarly, except less severely and no black liver(as seen in Dubin-Johnson)
How does Budd-Chiari syndrome progress(in the liver)?
Congestive liver disease
How does cirrhosis/portal hypertension(HTN) affect liver histology?
diffuse fibrosis, destroying normal structure, with nodular regeneration
How does Hirschsprung's disease first present?
Chronic constipation early in life
How does one diagnose gallstones?
ultrasound
How does one differentiate liver nodules, in the case of cirrhosis?
micronodular(<3mm and uniform)
macronodular(>3mm and varied)
How does one treat gallstones?
cholecystectomy
How is achalasia evidenced on a Barium swallow?
Bird beak'--dilated esophagus with an area of distal stenosis.
How is hepatocellular carcinoma spread?
like renal cell carcinoma, hematogenously
How is the hyperbilirubinemia in Dubin-Johnson syndrome different than in the other 2 hyperbilirubinemias(Gilbert's or Crigler-Najjar(type 1))?
Dubin-Johnson syndrome-- conjugated hyperbilirubinemia (due to defective liver excretion)
How would you expect a Gilbert's syndrome patient to present?
Asymptomatically, with an elevated unconjugated bilirubin
In PUD, how can H.pylori be treated?
triple therapy (metronidazole, bismuth salicylate, amoxicillin or tetracycline with or without a proton pump inhibitor
In what fatal childhood hepatoencephalopathy is there an association with viral infections(VZV,influ.B) or
salicylates?
Reye's syndrome
In Wilson's disease, where does copper accumulate(3)?
(1)Liver (2)Brain (3)cornea
Is chronic pancreatitis strongly associated with alcoholism?
YES
Is the dilation proximal, at, or distal to the aganglionic segment?
Proximal (results in a 'transition zone')
Low-fiber diets are associated with which of the following?
diverticulosis
To what cancer is a chronic gastritic patient predisposed?
Gastric carcinoma
What 3 common findings are evident in a Reye's patient?
(1)fatty liver (2)hypoglycemia (3)coma
What are 2 anti-androgen effects of liver cell failure?
gynecomastia loss of sexual hair
What are 2 extraintestinal manifestations of Crohn's?
migratory polyarthritis
erythema nodosum
What are 2 main symptoms and a histological sign of Duodenal ulcers?
(1)pain Decreases with meals, (2)weight gain, hypertrophy of Brunner's glands
What are 2 main symptoms of Gastric ulcers?
pain Greater with meals, weight loss
What are 2 signs of Crigler-Najjar syndrome(other than hyperbilirubinemia)?
jaundice
kernicterus(bilirubin deposition in the brain)
What are 2 types of Inflammatory Bowel Disease?
Crohn's disease Ulcerative colitis
What are 2 types of peptic ulcer disease(PUD)?
gastric ulcer duodenal ulcer
What are 3 associations of Budd-Chiari Syndrome?
(1)pregnancy (2)polycythemia rubra vera (3)hepatocellular carcinoma
What are 3 neuro effects of liver cell failure?
(1)asterixis, (2)scleral icterus, (3)coma
What are 3 types of gallstones?
(1)Cholesterol stones (2)Mixed stones (3)Pigment stones
What are 4 potential complications of PUD?
(1)bleeding, (2)penetration, (3)perforation, (4)obstruction
What are 4 signs of congestive liver disease?
(1)hepatomegaly (2)ascites (3)abdominal pain (4)eventual liver failure
What are 5 GI and 2 GU effects of portal HTN?
(1)esophageal varices(->hematemesis),
(2)melena,
(3)splenomegaly,
(4)caput medusae,
(5)ascites and
(1)testicular atrophy,
(2)hemorrhoids
What are 5 possible consequences of acute pancreatitis?
(1)DIC
(2)ARDS
(3)Diffuse fat necrosis
(4)hypocalcemia
(5)pseudocyst formation
What are possible causes of acute pancreatitis?
GET SMASHeD
Gallstones
Ethanol
Trauma
Steroids
Mumps
Autoimmune disease
Scorpion sting Hyperlipidemia
Drugs
What are possible etiologies of hemochromatosis?
primary(autos. Recessive) secondary to chronic transfusion therapy
What are risk factors for esophageal cancer(ABCDEF)?
Achalasia, Barrett's esophagus, Corrosive esophagitis, Diverticuli, Esophageal web, Familial
What are some complications of Crohn's(4)?
(1)strictures, (2)fistulas, (3)perianal disease, (4)malabsorption-nutritional depletion
What are some complications of ulcerative colitis(3)?
(1)severe stenosis, (2)toxic megacolon, (3)colorectal carcinoma
What are the 2 types of chronic gastritis?
Type A(fundal) Type B(antral)
What are the 3 forms of Diverticular disease?
(1)diverticulum, (2)diverticulosis, (3)diverticulitis
What are the 4 risk factors for gallstone development?
(1)Female (2)Fat (3)Fertile (4)Forty
What are the ABCD characteristics of Wilson's?
Asterixis Basal ganglia degeneration Cirrhosis, Ceruloplasmin decrease, Corneal deposits(Kayser-Fleischer rings), Carcinoma(hepatocell.), Choreiform movements Dementia
What are the characteristic 4 A's of type A gastritis?
Autoimmune disorder characterized by Autoantibodies to parietal cells, pernicious Anemia, Achlorhydria
What are the respective etiologies of Crohn's and Ulcerative colitis(UC)?
infectious(Crohn's) autoimmune(UC)
What can achalasia arise from and lead to?
A secondary form can arise from Chagas' disease; can lead to progressive dysphagia.
What can hemochromatosis lead to(2)?
(1)CHF (2)hepatocellular carcinoma
What cell tumor marker is elevated in hepatocellular carcinoma?
Alpha FetoProtein(AFP)
What disorder is characterized by increased iron deposition in many organs(up to 50g)?
hemochromatosis
What happens to hepatocytes as a result of alcoholic hepatitis?
they become swollen and necrotic
What happens when cholesterol and bilirubin overwhelm solubilizing bile acids and lecithin?
Gallstones
What histological changes, other than to hepatocytes, does one see in liver hepatitis?
neutrophil infiltration, Mallory bodies(hyaline), increased fat, and sclerosis around the central vein
What is a mnemonic for Barrett's esophagus?
BARRett's = Becomes Adenocarcinoma, Results from Reflux.
What is Barrett's esophagus?
The replacement of glandular stratified squamous with gastric columnar epithelium in distal esophagus.
What is failure of lower esophageal sphincter relaxation due to?
Achalasia is due to the loss of the myenteric plexus.
What is hepatic vein or IVC occlusion with centrilobular congestion and necrosis?
Budd-Chiari syndrome
What is recommended for patients over 50, in terms of CRC screening?
screen these patients over 50 with stool occult blood test
What is the cause of diverticulosis?
increased intraluminal pressure and focal weakness in the colonic wall
What is the classic triad of hemochromatosis?
(1)micronodular pigment cirrhosis (2)'bronze' diabetes (3)skin pigmentation
What is the discerning characteristic for type B gastritis?
Type B is caused by a Bug(H. pylori)
What is the embryonic cause of Hirschsprung's disease?
failure of neural crest migration
What is the etiology of duodenal ulcers?
H.pylori(100%)--lower mucosal protection or increased gastric acid secretion
What is the etiology of gastric ulcers?
H.pylori(70%), NSAIDS both lower mucosal protection vs. gastric acid
What is the gross morphology of Crohn's?
transmural inflamm. COBBLESTONE mucosa, creeping FAT, bowel wall thickening(string sign on x-ray), linear ulcers, fissures
What is the gross morphology of ulcerative colitis?
mucosal inflamm. Friable mucosal pseudopolyps with freely hanging mesentery
What is the incidence of diverticulosis in the elderly?
over 60y/o, 50%
What is the microscopic morphology of Crohn's?
noncaseating granulomas
What is the microscopic morphology of ulcerative colitis?
crypt abscesses and ulcers
What is the mnemonic for Crohn's?
For Crohn's, think of a FAT old CRONE SKIPping down a COBBLESTONE road.
What is the most common clinical sign of acute pancreatitis?
epigastric abdominal pain radiating to the back
What is the most common primary malignant tumor of the liver in adults?
hepatocellular carcinoma
What is the most common type of gallstone?
mixed stones
What is the primary cause of macronodules in the liver?
significant liver injury leading to hepatic necrosis(e.g. Infections, drug-induced)
What is the primary cause of micronodules in the liver?
metabolic(e.g. Alcohol)
What is the prognosis for pancreatic adenocarcinoma?
~6months (very aggressive--often already spread at presentation)
What is the term for inflamm. of diverticula?
diverticulitis
What is the term used for congenital megacolon characterized by loss of parasympathetic ganglion cells?
Hirschsprung's disease
What is the term used to describe breath that smells like a freshly opened corpse, as seen in liver cell failure?
fetor hepaticus
What is the term used to describe having many diverticula?
diverticulosis
What is the treatment for Crigler-Najjar syndrome?
plasmaphoresis phototherapy
What is the treatment of hemochromatosis?
repeated phlebotomy deferoxamine
What is the treatment of Wilson's disease(1 drug)?
penicillamine
What is the typical presentation of a patient with pancreatic adenocarcinoma(5 signs)?
(1)Abdominal pain radiating to the back (2)Weight loss (3)Anorexia (4)Migratory thrombophlebitis(Trousseau's Sd) (5)Pancreatic duct obstruction(palpable gallbladder)
What is the usual location of Crohn's?
Terminal ileum, small intestine, colon (but any part can be affected)-- often SKIP lesions, rectal sparing
What is the usual location of ulcerative colitis?
colon (with continuous lesions and rectal involvement)
What lab values are characteristic in alcoholic hepatitis?
SGOT(AST)/SGPT(ALT) &amp;gt; 1.5,usually (A Scotch and Tonic=AST elevation)
What lab values are characteristic in hemochromatosis?
increased ferritin and transferrin saturation
What labs are elevated in acute pancreatitis?
amylase lipase(higher specificity)
What part of the GI tract is most frequently involved in diverticulosis?
sigmoid colon
What risk group has an increased incidence of PUD by 2X?
smoking
What type of stones are seen in patients with RBC hemolysis,alcoholic cirrhosis,biliary infection?
pigment stones
When do patients with Crigler-Najjar syndrome(type I) usually present?
early in life(often die within a few years)
Where are pancreatic tumors most often located?
pancreatic head (with obstructive jaundice)
Where is the pain associated with diverticulitis?
left lower quadrant
Which of the following are effects of liver cell failure? Anemia, hypercoagulation,spider nevi, jaundice, gynecomastia,bleeding tendency, ankle edema
all, except hyper coagulation
Which of the following are risk factors for colorectal cancer(CRC): age,smoking,personal and family history of colon cancer, low-fiber diet, hereditary non-polyposis CRC?
all, except for smoking
Which of the following are risk factors for colorectal cancer: colorectal villous adenomas, chronic inflamm.bowel disease, familial adenomatous polyposis,Peutz-Jeghers?
all, except for Peutz-Jeghers
Which of the following is a blind pouch leading off the GI tract lined by mucosa, muscularis, serosa? Diverticulosis, diverticulum, diverticulitis
diverticulum
Which of the following is a common association between cholesterol stones and pigment stones: obesity,Crohn's,cystic fibrosis,age,clofibrate, estrogens,multiparity,rapid weight loss?
advanced age
Which of the following is associated with perforation, peritonitis, abscesses, or bowel stenosis?
Diverticulitis
Which of the following is associated with stress:Gilbert's, Dubin-Johnson syndrome, or Crigler-Najjar(type 1)?
Gilbert's
Which of the following syndromes have a mildly decreased UDP-glucuronyl transferase: Gilbert's or Crigler-Najjar(type 1)?
Gilbert's(Crigler-Najjar has an absence of UDP-glucuronyl transferase)
Which type of liver nodule is associated with an increased risk of hepatocellular carcinoma?
macronodules
With what 6 diseases does hepatocellular carcinoma have an association?
(1)Hepatitis B (2)Hepatitis C (3)Wilson's (4)Hemochromatosis (5)alpha 1 antitrypsin deficiency (6)alcoholic cirrhosis
With what cancer is achalasia associated?
Increased risk for esophageal cancer.
An FEV1/FVC ratio greater than 80% indicates what form of pulmonary disease?
Restrictive lung disease
Are bronchogenic carcinoma metastases common?
Yes, very common
Decreased FEV1/FVC ratio are the hallmark of what kind of pulmonary disease?
COPD
How does interstitial fibrosis create a restrictive lung disease?
It causes increased recoil (decreased compliance), thereby limiting alveolar expansion.
How does lung cancer commonly present? (5)
- Cough - Hemoptysis - Bronchial obstruction - Wheezing - Pneumonic 'coin' lesion on x-ray
How does surfactant deficiency cause NRDS?
It leads to an increase in surface tension, resulting in alveolar collapse
How to you treat NRDS?
- Maternal steroids before birth - Artificial surfactant for infant
Identify: ivory-white pleural plaques in the lung.
Ferruginous bodies
In COPD, are lung volumes increased, decreased, or normal?
Increased (increasedTLC, increased FRC, increased RV)
In restrictive lung disease, are lung volumes increased, decreased, or normal?
Decreased
In what occupations is asbestosis most commonly seen? (2)
Shipbuilders and plumbers
Name three 'triggers' of asthma.
- Viral URIs - Allergens - Stress
Name three characteristics of Horner's syndrome?
- Ptosis - Miosis - Anhidrosis
Name two extrapulmonary (poor breathing mechanics) causes of restrictive lung disease.
Poor muscular effort: polio, myasthenia gravis

Poor apparatus: scoliosis, severe kyphosis, obesity
Name two pulmonary causes of restrictive lung disease.
-pneumonia, ARDS, pulmonary edema
- Interstitial fibrosis
Patients with asbestosis are at increased risk for what? (2)
Pleural mesothelioma and bronchogenic carcinoma
T/F Bronchiectasis is associated with bronchial obstruction, cystic fibrosis, and poor ciliary motility.
TRUE
T/F Only in obstructive and not restrictive lung disease, FEV1 and FVC are reduced.
False, FEV1 and FVC are reduced in both
T/F Restricted lung expansion causes decreased total lung capacity and increased vital capacity.
False, decreased VC and TLC
T/F Smokers with asbestosis have a decreased risk of developing cancer.
False, it increases synergistically for bronchogenic carcinoma but has no effect on mesothelioma development
What are asbestos fibers coated with hemosiderin in the lung?
Ferruginous bodies
What are the characteristics and common organism of lobar pneumonia?
Sx: rusty colored sputum
Signs: egophony, dullness to percussion, inc. fremitus Consolidation(Intra-alveolar exudate)

Organism: strep pneumonia
What are the hx and clinical findings of chronic bronchitis? (3)
Hx: >3mo. consecutive prod. cough for >2yrs. typically smoker

Signs:
-Wheezing, Crackles, Cyanosis
-Reid index >50%
-bronchial mucus glands hypertrophied
BLUE BLOATER
What are the clinical findings of emphysema? (4)
- Dyspnea - Decreased breath sounds - Tachycardia - Decreased I/E ratio
What are the symptoms and complications of interstitial lung fibrosis?
- Symptoms: gradual progressive dyspnea and cough - Complications include cor pulmonale (can be seen in diffuse interstitial pulmonary fibrosis and bleomycin toxicity)
What bronchogenic carcinoma is associated with ectopic hormone production (ADH, ACTH) and may lead to Lambert-Eaton syndrome?
Small cell carcinoma
What bronchogenic carcinoma is associated with ectopic PTH-related peptide production?
Squamous cell carcinoma
What bronchogenic carcinoma is most common?
Adenocarcinoma
What bronchogenic carcinoma is thought not to be related to smoking?
Bronchioalveolar carcinoma
What bronchogenic carcinomas are clearly linked to SSmoking?
SSquamous cell carcinoma and SSmall cell carcinoma
What bronchogenic carcinomas usually express tumors that arise centrally? (2)
- Squamous cell carcinoma - Small cell carcinoma
What bronchogenic carcinomas usually express tumors that arise peripherally? (3)
- Adenocarcinoma - Bronchioalveolar carcinoma - Large cell carcinoma--undifferentiated
What carcinoma occurs in the apex of the lung and may affect the cervical sympathetic, causing Horner's syndrome?
Pancoast's tumor
What causes bronchiectasis?
Chronic necrotizing infection of bronchi
What causes neonatal respiratory distress syndrome (NRDS)?
Surfactant deficiency
What cells make surfactant and when is it made most abundantly in fetuses?
Type II pneumocytes most abundantly after 35th week of gestation
What COPD has a productive cough for greater than three months in two years and hypertrophy of mucus-secreting glands in the bronchioles (Reid index greater than 50%)?
Chronic bronchitis
What COPD is characterized by dilated airways, purulent sputum, recurrent infections, and hemoptysis?
Bronchiectasis
What COPD is due to an enlargement of air spaces and decreased recoil resulting from destruction of alveolar walls?
Emphysema
What COPD is due to bronchial hyperresponsiveness which causes reversible bronchoconstriction?
Asthma
What does inhaled asbestos do to the lungs?
It causes diffuse pulmonary interstitial fibrosis
What is the composition of surfactant:
Dipalmitoyl phosphatidylcholine
What is the difference in FEV1/FVC ratios between obstructive and restrictive lungs diseases?
FEV1 and FVC are reduced in both, but in obstructive the FEV1 is more dramatically reduced, resulting in a decreased FEV1/FVC ratio
What is the leading cause of cancer death?
Lung cancer
What is the SPHERE (acronym) of complications associated with lung cancer?
Superior vena caval syndrome Pancoast's tumor Horner's syndrome Endocrine (paraneoplastic) Recurrent laryngeal symptoms (hoarseness) Effusions (pleural or pericardial)
What kind of pulmonary diseases are caused by a inhibition of air flow resulting in air trapping in the lungs?
Obstructive lung diseases (COPD)
What organisms are is the most frequent cause of lobar pnuemonia?
Pneumococcus
What organisms are the most frequent cause of bronchopnuemonia? (4)
- S. aureus - H. flu - Klebsiella - S. pyogenes
What organisms are the most frequent cause of interstitial (atypical) pnuemonia? (3)
- Viruses (RSV, adenoviruses) - Mycoplasma - Legionella
What specific type of emphysema is caused by alpha-1-antitrypsin deficiency?
Panacinar emphysema (and liver cirrhosis)
What specific type of emphysema is caused by smoking?
Centriacinar emphysema
What test is used to measure in utero lung maturity?
The lecithin-to-sphingomyelin ratio in the amniotic fluid, usually less than 1.5 in neonatal respiratory distress syndrome
What type of lung cancer can cause carcinoid syndrome?
Carcinoid tumor
What type of pneumonia is characterized by acute inflammatory infiltrates from bronchioles into adjacent alveoli with a patchy distribution affecting more than one lobe?
Bronchopneumonia
What type of pneumonia is characterized by diffuse patchy inflammation localized to interstial areas at alveolar walls and involves more than one lobe?
Interstitial (atypical) pneumonia
Where does bronchogenic carcinoma commonly metastasize and how does it present? (3)
- Brain (epilepsy) - Bone (pathologic fracture) - Liver (jaundice, hepatomegaly)
Why does alpha-1-antitrypsin deficiency cause emphysema?
Increased elastase activity
Define epilepsy.
Epilepsy is a disorder of recurrent seizures.
Define syrinx.
Tube, as in syringe
Describe a myoclonic seizure.
Quick,repetitive jerks
Describe a tonic-clonic seizure.
Alternating stiffening and movement (grand mal)
Describe a tonic seizure.
Stiffening
Describe an absence seizure.
A blank stare (petit mal- it's in 1st aid this way!!)
Describe an atonic seizure.
drop' seizures
Describe Broca's aphasia.
Broca's is nonfluent aphasia with intact comprehension. BROca's is BROken speech.
Describe Horner's syndrome.
Sympathectomy of face (lesion above T1). Interruption of the 3-neuron oculosympathetic pathway.
Describe Wernicke's aphasia.
Wernicke's is fluent aphasia with impaired comprehension. Wernicke's is Wordy but makes no sense.
How do patients present with a subarachnoid hemorrhage?
Worst headache of my life'
How do pts present with MS?
-Optic neuritis (sudden loss of vision) - MLF syndrome (internuclear ophthalmoplegia) -Hemiparesis -Hemisensory symptoms -Bladder/bowel incontinence
How does it spread?
Through the bloodstream to the CNS
How does Werdnig-Hoffman disease present?
At birth as a 'floppy baby'
How is Huntington's disease inherited?
Autosomal dominant
How is the polio virus transmitted?
Fecal-oral route
How is the prevalence of MS geographically distributed?
Higher prevalence with greater distance from the Equator
In what persons is subdural hemorrhage often seen?
Elderly individuals, alcoholics, and blunt trauma
T/F. Partial seizures can not generalize.
False- Partial seizures can generalize.
What are 2 common organisms that target the brain in AIDS pts?
1. Toxo!Toxo!Toxo! 2. Cryptococcus
What are 2 degenerative diseases of the cerebral cortex?
1. Alzheimer's 2. Pick's disease
What are 2 degenerative diseases that affect the basal ganglia and brain stem?
1. Huntington's disease 2. Parkinson's disease
What are 3 degenerative disorders of the motor neuron?
1. Amyotrophic lateral sclerosis (ALS) 2. Werdnig-Hoffman disease 3. Polio
What are associated with Guillain-Barre?
1. Infections (herpesvirus or C. jejuni) 2. Inoculations 3. Stress
What are neurofibrillary tangles?
Abnormally phosphorylated tau protein
What are some demyelinating and dysmyelinating diseases?
1. Multiple sclerosis (MS) 2. Progressive multifocal leukoencephalopathy (PML) 3. Postinfectious encephalomyelitis 4. Metachromatic Leukodystrophy 5. Guillain-Barre syndrome
What are the 4 types of intracranial hemorrhages?
1. Epidural hematoma 2. Subdural Hematoma 3. Subarachnoid hemorrhage 4. Parenchymal hematoma
What are the 5 types of generalized seizures?
1. Absence 2. Myoclonic 3. Tonic-clonic 4. Tonic 5. Atonic
What are the clinical symptoms of Huntington's disease?
Dementia, chorea
What are the clinical symptoms of Parkinson's disease?
TRAP= Tremor (at rest) cogwheel Rigidity Akinesia Postural instability (you are TRAPped in your body)
What are the clinical symptoms of Tabes dorsalis?
-Charcot joints -Shooting pain -Argyll-Robertson Pupils -Absence of deep tendon reflexes
What are the common causes of seizures in adults?
-Tumors -Trauma -Stroke -Infection
What are the common causes of seizures in children?
-Genetic -Infection -Trauma -Congenital -Metabolic
What are the common causes of seizures in the elderly?
-Stroke -Tumor -Trauma -Metabolic -Infection
What are the lab findings in Guillain-Barre syndrome?
Elevated CSF protein with normal cell count ('albumino-cytologic dissociation')
What are the lab findings in poliomyelitis?