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USMLE Pathology


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Common congenital malformations: Name 7 common congenital malformations
(1) Heart Defects (congenital rubella) (2) Hypospadias (3) Cleft lip with or without cleft palate (4) congenital hip dislocation (5) spina bifida (6) anencephaly (7) pyloric stenosis (associated with polyhydramnios & projectile vomiting)
Common congenital malformations: Name 2 neural tube defects (NTDs)
Spina bifida and anencephaly
Common congenital malformations: Name 2 diagnostic associations with NTDs during gestation
increased serum and amniotic fluid levels of a-fetoprotein
Common congenital malformations: How can the incidence of NTDs be reduced?
Folate ingestion during pregnancy
Congenital Heart Disease: What kind of shunts cause early cyanosis?
R-to-L "blue babies"
Congenital Heart Disease: What kind of shunts cause late cyanosis?
L-to-R "blue kids"
Congenital Heart Disease: Name 3 common R-to-L shunts.
The 3 T's: Tetralogy of Fallot (most common cause of early cyanosis), Transposition of the great vessels, truncus arteriosus
Congenital Heart Disease: What might you see children with a R-to-L shunt do to relieve discomfort?
Squat to increase venous return
Congenital Heart Disease: Name 3 common L-to-R shunts.
Congenital Heart Disease: Rank them in order of frequency
Congenital Heart Disease: What are the auscultatory signs of an Atrial Septal Defect?
Loud S1; wide, fixed split S2
Congenital Heart Disease: How do you treat PDA?
Congenital Heart Disease: Name 3 sequelae of L-to-R shunts.
1) Increased pulmonary resistance due to arteriolar thickening. 2) Progressive pulmonary HTN 3) R-to-L shunt (Eisenmenger's)
Eisenmenger's Syndrome: What are signs/symptoms of Eisenmenger's?
Late cyanosis, clubbing, polycythemia
Tetrology of Fallot: What is the Tetrology?
(1) Pulmonary Stenosis (2) RVH (3) Overriding aorta (4) VSD (mnemonic: PROVe)
Tetrology of Fallot: What is the direction of the shunt in the tetralogy?
right-to-left across the VSD
Tetrology of Fallot: What is the x-ray finding on the tetralogy?
Boot-shaped heart due to RVH
Tetrology of Fallot: What is the embryological cause of the tetralogy?
Anterosuperior displacement of the infundibular septum.
Transposition of great vessels: The transposition occurs because of a failure of the --------------- --------- to -------
failure of the aorticopulmonary septum to spiral
Transposition of great vessels: In transposition of the great vessels, the aorta leaves ------------ and the pulmonary trunk leaves the ------------
aorta leaves the RV (anterior) and the pulmonary trunk leaves the LV (posterior)
Transposition of great vessels: How might transposition of the great vessels, be compatible with life?
If a shunt (e.g. VSD, PDA or patent foramen ovale) exists, blood from the systemic and pulmonary circulations can mix. Clinicians use PGE to keep PDA open.
Transposition of great vessels: Transposition of the great vessels is a common congenital heart disease in offspring of mothers with what disease?
Coarctation of aorta: Where is the aortic stenosis in the infantile type of coarctation?
Preductal (proximal to insertion of ductus arteriosus) - INfantile (in close to heart)
Coarctation of aorta: Where is the aortic stenosis in the adult type of coarctation?
Postductal (distal to ductus arteriosus). - ADult (Distal to Ductus)
Coarctation of aorta: Name 3 symptoms in adult type coarctation?
(1) Notching of the ribs (2) HTN in uper extremities (3) Weak pulses in uper extremities
Coarctation of aorta: What is the Male-to-Female ratio in coarctation?
Coarctation of aorta: What pulses should you check on physical exam?
Patent ductus arteriosus: Which direction is the shunt in a neonate with PDA?
Patent ductus arteriosus: What change occurs to the heart in PDA?
RVH and failure
Patent ductus arteriosus: What is the auscultatory finding in PDA?
Continuous, "machine-like" murmur.
Patent ductus arteriosus: How is patency maintained in PDA?
prostaglandin (PGE) synthesis and low Oxygen tension.
Patent ductus arteriosus: What drug is used to close a PDA?
Patent ductus arteriosus: How is a PDA kept open?
Patent ductus arteriosus: Why would you want to keep a PDA open?
To sustain life in conditions such as transposition of the great vessels.
Autosomal trisomies: What is the most common chromosomal disorder and cause of congenital mental retardation?
Down Syndrome (trisomy 21), 1:700
Autosomal trisomies: In Down syndrome, 4% of cases are due to ------- translocation, and 1% are due to -------- mosaicism
Robertsonian; Down
Autosomal trisomies: 95% of Down syndrome cases occur because of --------- --------- of homologous chromosomes
meiotic nondisjunction
Autosomal trisomies: What is the type and cause of the most common congenital heart malformation in Down syndrome?
Septum-primum-type ASD due to endocardial cushion defects
Autosomal trisomies: Name 8 findings in trisomy 21
(1) mental retardation (2) flat facial profile (3) prominent epicanthal folds (4) simian crease (5) duodenal atresia (6) congenital heart disease (7) Alzheimer's in affected >35 yrs old (8) Increased risk of ALL
Autosomal trisomies: Name a risk factor for Down Syndrome
Advanced maternal age (1:500 < 20 yo; 1:25 > 45 yo)
Autosomal trisomies: What is the name of the syndrome associated with trisomy 18?
Edwards' syndrome (Election age = 18)
Autosomal trisomies: Name 7 findings in trisomy 18
(1) severe mental retardation (2) rocker bottom feet (3) low-set ears (4) microngathia (5) congenital heart dz (6) clenched hands (flexion of fingers) (7) prominent occiput
Autosomal trisomies: What is the life expectancy in trisomy 18?
Death usually w/in 1 year of birth
Autosomal trisomies: What chromosomal anomaly is found in Patau's syndrome?
trisomy 13 (1:6000)
Autosomal trisomies: Name 7 findings in Patau's
(1) severe mental retardation (2) microphthamlia (3) microcephaly (4) cleft lip/palate (5) abnormal forebrain structures (6) polydactyly (7) congenital heart dz
Autosomal trisomies: What is the life expectancy in Patau's?
Death usually w/in 1 year of birth
Genetic gender disorders: What is the chromosomal anomaly in Klinefelter's syndrome?
XXY (1:850) - male
Genetic gender disorders: Name 5 characteristics of Klinefelter's syndrome
(1) Testicular atrophy (2) Enuchoid body shape (3) Tall, long extremities (4) Gynecomastia (5) Female hair distribution
Genetic gender disorders: What is a Barr body and is it found kin Klinefelter's syndrome?
It is the inactivated X chromosome. Yes.
Genetic gender disorders: What is the chromosomal anomaly in Turner's syndrome?
Female XO; (1:3000)
Genetic gender disorders: Name 4 characteristics of Turner's syndrome
(1) Short stature (2) Ovarian dysgenesis (streak ovary) (3) Webbing of next (4) Coarctation of the aorta
Genetic gender disorders: Turner's syndrome is the most common cause of primary ------------
Genetic gender disorders: Is there a Barr body in Turner's syndrome?
Genetic gender disorders: Double Y males have what genotype?
XYY (1:1000) - male
Genetic gender disorders: What is the double Y phenotype?
Normal phenotype, very tall, severe acne, antisocial behavior (seein in 1-2% of XYY males; seen increasingly among prison inmates)
Muscular dystrophies: How are muscular dystrophies diagnosed?
Elevated CPK and muscle biopsy
Muscular dystrophies: What is the gene involved in muscular dystrophy?
Muscular dystrophies: What is the mutation in Duchenne's MD?
Frame-shift mutation - deletion of dystrophin gene - accelerated muscle breakdown.
Muscular dystrophies: What is the age of onset in Duchenne's MD?
Before 5 years
Muscular dystrophies: In what muscles does weakness begin with Duchenne's MD?
Pelvic girdle muscles and progresses superiorly
Muscular dystrophies: Name 3 diagnostic characteristics of Duchenne MD.
(1) Pseduohypertrophy of calf muscles due to fibrofatty replacement of muscle (2) Cardiac myopathy (3) Use of Gowers' maneuver, requiring assistance of uper extremities to stand up - indicates proximal lower limb weakness
Muscular dystrophies: What distinguishes Becker's from Duchenne's MD?
Less severe mutation in Becker's. Less debilitating.
Pseudohermaphroditism: What is pseudohermaphroditism?
Disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
Pseudohermaphroditism: A female pseudohermaphrodite has ------- present, but external genitalia are -------- or -----------.
ovaries; virilized or ambiguous
Pseudohermaphroditism: What causes female pseudohermaphroditism?
Excessive and inapropraite exposure to androgenic steroids during early gestation (i.e.,congenital adrenal hyperplasia or exogenous administration of androgens suring pregnancy).
Pseudohermaphroditism: What are the phenotypes in female and male pseudohermaphroditism?
female - XX; male - XY
Pseudohermaphroditism: A male pseudohermaphrodite has ------- present, but external genitalia are --------- or ---------.
testes; female or ambiguous
Pseudohermaphroditism: What is the most common form of male pseudohermaphroditism?
Testicular feminization (androgen insensitivity), which results from a mutation in the androgen receptor gene (x-linked); blind-end vagina
Pseudohermaphroditism: What determines gender identity?
External genitalia and sex of upbringing.
True Hermaphrodite (46,XX or 47, XXY): What is a true hermaphrodite?
Both ovary and testicular tissue present; ambiguous genitalia.
True Hermaphrodite (46,XX or 47, XXY): What are the genotypic possibilities for a true hermaphrodite?
46,XX or 47,XXY
Testicular Feminization syndrome (46, XY): What is the molecular defect in testicular feminization syndrome?
Defect in DHT receptor resulting in normal-apearing female
Testicular Feminization syndrome (46, XY): What genitalia are present in testicular feminization syndrome?
female genitalia with rudimentary vagina; uterus and uterine tubes generally absent; develop testes (often found in labia majora; surgically removed to prevent malignancy)
Testicular Feminization syndrome (46, XY): What are the genotype and horomone levels in testicular feminization syndrome?
46, XY; levels of testosterone, estrogen and LH are all high
5a-reductase deficiency: What is the biochemical consequence of 5a-reductase deficiency
Unable to convert testosterone to DHT.
5a-reductase deficiency: Describe genital development in 5a-reductase deficiency.
Ambiguous genitalia until puberty, when increased testosterone causes masculinization of genitalia.
5a-reductase deficiency: What are the hormone levels in 5a-reductase deficiency.
Testosterone/estrogen levels are normal; LH is normal or elevated.
Cri-du-chat syndrome: What is the mutation in Cri-du-chat syndrome?
Congenital deletion of short arm of chromosome 5 (46,XX or XY, 5p-)
Cri-du-chat syndrome: What are the findings in Cri-du-chat
Microcephaly, severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities.
Cri-du-chat syndrome: What does Cri-du-chat mean in english, which might help remember the symptoms?
Cry of the cat.
Fragile X syndrome: What is the 2nd most common cause of genetic mental retardation?
Fragile X syndrome
Fragile X syndrome: What genetic change is involved in Fragile X syndrome?
x-linked defect affecting the methylation and expression of the FMR1 gene.
Fragile X syndrome: Name 4 physical features associated with Fragile X syndrome?
(1) macro-orchidism (enlarged testes) (2) Long face with a large jaw (3) large everted ears (4) autism
Cystic Fibrosis (CF): What is the genetic defect in cystic fibrosis?
Autosomal-recessive defect in CFTR gene on chromosome 7
Cystic Fibrosis (CF): What is the molecular defect in CF?
Defective Cl- channel
Cystic Fibrosis (CF): What are the consequences of the defect in CF?
The defective chloride channel causes secretion of abnormally thick mucus that plugs lungs, pancreas and liver, which leads to recurrent pulmonary infections (pseudomonas species and S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.
Cystic Fibrosis (CF): Name a diagnostic test for CF.
Increased concentration of Cl- ions in sweat test.
Cystic Fibrosis (CF): Why does CF cause infertility in males?
Absent vas deferens.
Cystic Fibrosis (CF): What vitamins are often deficient in CF?
Fat-soluble - A,D,E,K
Most common lethal genetic disease of Caucasians.
Cystic Fibrosis
Cystic Fibrosis (CF): What is the treatment for CF?
N-acetylcysteine to loosen mucous plugs.
Autosomal-dominant diseases: A patient presents with flank pain, hematuria, hypertension, progressive renal failure and has a mutation in one of his copies of APKD1 (chromosome 16); what is the diagnosis?
Adult polycystic kidney disease. N.B. the juvenile form is recessive.
Autosomal-dominant diseases: Name 2 other characteristics of adult polycystic kidney disease.
(1) always bilateral, (2) massive enlargement of the kidneys due to multiple large cysts.
Autosomal-dominant diseases: What sequelae are associated with adult polycystic kidney disease?
(1) polycystic liver disease (2) berry aneurysms (3) mitral valve prolapse
Autosomal-dominant diseases: What disease involves elevated LDL owing to defective or absent LDL receptor?
Familial hypercholesterolemia (type IIA)
Autosomal-dominant diseases: What are the average cholesterol levels in heterozygotes and homozygotes with familial hypercholesterolemia (tyype IIA)?
heterozygotes (1:500) - 300 mg/dL homozygotes - 700+ mg/dL
Autosomal-dominant diseases: What are 3 sequelae of familial hypercholesterolemia (type IIA)?
(1) severe atherosclerotic disease early in life (2) tendon xanthomas (classically in the Achilles tendon) (3) MI may develop before age 20
Autosomal-dominant diseases: What is the genetic defect in Marfan's syndrome?
Fibrillin gene mutation leads to connective tissue disorders.
Autosomal-dominant diseases: What are the skeletal abnormalities in Marfan's?
tall with long exteremities, hyperextensive joints, and long, tapering fingers and toes.
Autosomal-dominant diseases: What are the cardiovascular risks in Marfan's?
cystic medial necrosis of aorta leads to aortic incompetence and dissecting aortic aneurysms; flopy mitral valve.
Autosomal-dominant diseases: What are the ocular risks in Marfan's?
Subluxation of lenses.
Autosomal-dominant diseases: What is another name for Neurofibromatosis type 1?
von Recklinghausen's disease
Autosomal-dominant diseases: What chromosome is affected in NF type 1?
Long arm of chromosome 17 (17 letters in von Recklinghasen's)
Autosomal-dominant diseases: What are 5 classic characteristics of people with NF type 1?
(1) café-au-lait spots (2) neural tumors (3) Lisch nodules (pigmented iris hamartomas) (4) skeletal disorders (e.g., scoliosis) (5) Increased tumor susceptibility
Autosomal-dominant diseases: What disease is associated with bilateral acoustic neuroma?
Neurofibromatosis type 2
Autosomal-dominant diseases: What gene is affected in neurofibromatosis type 2?
NF2 gene on chromosome 22; (type 2 = 22)
Autosomal-dominant diseases: What is the genetic mutation in Von-Hippel-Lindau disease?
Deletion of VHL gene (tumor supressor) on chromosome 3p. (Von Hipel-Lindau = 3 words for chromosome 3)
Autosomal-dominant diseases: What are the clinical findings in Von-Hippel-Lindau disease?
hemiangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.
Autosomal-dominant diseases: What is the diagnosis in a 20-50 year old person who presents with depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and Ach in the brain?
Huntington's disease
Autosomal-dominant diseases: What chromosome holds the gene involved in Huntington's?
Chromosome 4; triplet repeat disorder ("Hunting 4 food")
Autosomal-dominant diseases: What disease is responsible for a colon that ecomes covered with adenomatous polyps after puberty?
Familial adenomatous polyposis (FAP)
Autosomal-dominant diseases: What is the progression in Familial adenomatous polyposis if colon not resected?
Colon cancer
Autosomal-dominant diseases: What is the genetic defect in Familial adenomatous polyposise?
deletion on chromosome 5 - 5 letters in polyp
Autosomal-dominant diseases: What are 3 characteristics of hereditary spherocytosis?
(1) spheroid erythrocytes (2) hemolytic anemia (3) increased MCHC
Autosomal-dominant diseases: What is the cure for hereditary spherocytosis?
Autosomal-dominant diseases: What is the genetic defect in achondroplasia?
Autosomal dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3.
Autosomal-dominant diseases: What are the physical characteristics of achondroplasia?
Dwarfism, short limbs, but head and trunk are normal size.
X-linked or AR:: Cystic fibrosis
X-linked or AR:: albinism
X-linked or AR:: Fragile X
X-linked or AR:: Duchenne's muscular dystrophy
X-linked or AR:: hemophilia A and B
X-linked or AR:: a1-antitrypsin deficiency
X-linked or AR:: Fabry's
X-linked or AR:: G6PD deficiency
X-linked or AR:: Hunter's syndrome
X-linked or AR:: Phenylketonuria (PKU)
X-linked or AR:: thalassemias
X-linked or AR:: sickle cell anemias
X-linked or AR:: ocular albinism
X-linked or AR:: glycogen storage diseases
X-linked or AR:: mucopolysaccharidoses (except Hunter's)
X-linked or AR:: sphingolipidoses (except Fabry's)
X-linked or AR:: infant polycystic kidney
X-linked or AR:: Lesch-Nyhan syndrome
X-linked or AR:: Bruton's agammaglobulinemia
X-linked or AR:: hemochromatosis
X-linked or AR:: Wiskott-Aldrich syndrome
X-linked or AR:: What are femal carriers of x-linked recessive disorders rarely affected?
Inactivation of X chromosomes in each cell
Neural Tube Defects (NTD): Name two associations with neural tube defects during pregnancy.
(1) Low folic acid intake (2) Elevated a-fetoprotein in amniotic fluid
Neural Tube Defects (NTD): What NTD is associated with failure of bony spinal canal to close, but no structural herniation?
Spina bifida occulta
Neural Tube Defects (NTD): Which NTD is involved with herniation of meninges through spinal canal defect?
Neural Tube Defects (NTD): What is the NTD that involves herniation of meninges AND spinal cord through spinal canal defect?
Neural Tube Defects (NTD): Which NTD is usually seen at lower vertebral levels?
Spina bifida occulta
Neural Tube Defects (NTD): Take a look at the figures in the book for good visualization of the NTDs.
Fetal Alcohol Syndrome: Who is at greatest risk of FAS?
Newborns of mothers who consumed significant amounts of alcohol (teratogen) during pregnancy (highest risk at 3-8 weeks).
Fetal Alcohol Syndrome: Name 5 congenital abnormalities in FAS?
(1) pre and postnatal developmental retardation (2) microcephaly (3) facial abnormalities (4) limb dislocation (5) heart and lung fistulas
Fetal Alcohol Syndrome: How does FAS rank among congenital malformations in the U.S.?
It's number 1
Fetal Alcohol Syndrome: What is the presumed mechanism of FAS?
Inhibition of cell migration?
Fetal Alcohol Syndrome: AUTHOR
Neha Pathak
NEOPLASTIC PROGRESSION: when cells increase in number it is called?
NEOPLASTIC PROGRESSION: what are two enzymes that allow neoplastic cells to invade th ebasement membrane?
collagenase and hydrolase
NEOPLASTIC PROGRESSION: when cells have an increased nulear to cytoplasmic ratio but have not invaded the basement membrane, it is called?
carcinoma in situ
_ -PLASIA DEFINITIONS: squamous _________ occurs in the trachea and bronchi of smokers
_ -PLASIA DEFINITIONS: what is it called when a cell has reversible preneoplastic changes with abnormal shape and size?
_ -PLASIA DEFINITIONS: abnormal cells that lack differentiation are called?
anaplastic cells
TUMOR STAGE VS. GRADE: staging of a tumor takes into account what factors?
TMN size of tumor, node involvment, metastases
TUMOR STAGE VS. GRADE: histolgy of a tumor is used to determine?
TUMOR STAGE VS. GRADE: what has more prognostic value? Grade or stage?
TUMOR NOMENCLATURE: the term _________ implies epithelial origin, whereas _________ implies mesenchymal origin
carcinoma, sarcoma
TUMOR NOMENCLATURE: a tumor of blood vessels is called what when it is benign? When it is malignant?
hemangioma, angiosarcoma
TUMOR NOMENCLATURE: what is a benign tumor of skeletal muscle called?
DISEASES ASSOCIATED WITH NEOPLASMS: Kaposi's sarcoma and aggressive malignant lymphomas are associated with what disease
DISEASES ASSOCIATED WITH NEOPLASMS: Actinic Keratosis predispose to what disease?
squamous cell carcinoma of skin
DISEASES ASSOCIATED WITH NEOPLASMS: down syndrome is associated with what neoplasm?
ONCOGENES: c-myc oncogenes are associated with what neoplasm?
burkitt's lymphoma
ONCOGENES: breast, ovarian, and gastic carcinomas all have this oncogene mutation in common?
erb B2
ONCOGENES: MEN II and III are associated with what oncogenic mutation?
TUMOR SUPRESSOR GENES: Name the associated tumor witht the following tumor supressor gene mutations: Rb, APC, WT1
retinoma blastoma, colorectal cancer, wilms tumor
TUMOR SUPRESSOR GENES: p53 is on what chromosome
TUMOR SUPRESSOR GENES: osteosarcoma is associated with what tumor supressor gene mutation
TUMOR MARKERS: TRAP is a tumor marker for what neoplasm
hairy cell leukemia
TUMOR MARKERS: what tumor marker is elevated in hyatidiform moles
TUMOR MARKERS: ovarian tumors are associated with what tumor marker
ONCOGENIC VIRUSES: the virus associated with burkitts and nasopharyngeal cancer is?
ONCOGENIC VIRUSES: hpv is responsible for what cancers?
cervical, penile, and anal carcinoma
ONCOGENIC VIRUSES: what virus is responsible for kaposis sarcoma?
CHEMICAL CARCINOGENS: aflatoxin, vinyl chloride and ccl4 damage what organ?
CHEMICAL CARCINOGENS: nitrosamines cause cancer in what organs?
esophagus or stomach
CHEMICAL CARCINOGENS: asbestos causes what types of cancer?
bronchogenic and mesothelioma
LOCAL EFFECTS OF TUMORS: When the following are obstructed, what can occur: bronchus? Biliary tree? Left colon?
pneumonia, jaundice, constipation
LOCAL EFFECTS OF TUMORS: tumor mass in the brain can cause the following
seizure, increased intracranial pressure, mass effect and herniation
LOCAL EFFECTS OF TUMORS: compression of the recurrent laryngeal nerve can cause what?
PROSTATIC ADENOCARCINOMA: what lobe/zone is most often involved in prostatic cancer?
posterior lobe, peripheral zone
PROSTATIC ADENOCARCINOMA: what is a common site of metastases for prostate cancer?
PROSTATIC ADENOCARCINOMA: what are useful tumor markers for prostate CA
psa, and prostatic acid phosphatase
SKIN CANCER: this type of skin cancer has palisading nuclei
basal cell carcinoma
SKIN CANCER: dyplastic nevi are a precursor fot this type of cancer
SKIN CANCER: this type of skin cancer is associated with keratin pearls
squamous cell carcinoma of skin
PRIMARY BONE TUMORS: the translocation 11;22 is associated with this cancer of the bone that occurs most commonly in young boys
ewing's sarcoma
PRIMARY BONE TUMORS: this tumor is characterized by a "double bubble" or "soap bubble" appearance
benign giant cell tumor
PRIMARY BONE TUMORS: this is the most common benign bone tumor, usually in men younger than 25, with a rare transformation to malignancy
Gabe Pitta
Primary Brain Tumors-Adult peak incidence: Most common adult brain tumor?
Glioblastoma multiforme (grade IV astrocytoma) See pseudopalisading tumor cells, central necrosis and hemorrhage.
Primary Brain Tumors-Adult peak incidence: Second most common adult tumor?
Meningioma, occurring in convexities of hemispheres and parasagittal region. See psammoma bodies.
Primary Brain Tumors-Adult peak incidence: Benign, slow-growing tumor in frontal lobes?
Oligodendroglioma, look for fried egg apearance, often calcified.
Primary Brain Tumors-Adult peak incidence: Third most common tumor, often localized to CN8?
Schwannoma, see it in acoustic Schwannoma. Antoni A (compact) and Antoni B (loose) patterns.
Primary Brain Tumors-Adult peak incidence: Most common forms are prolactin-secreting?
Pituitary Adenoma, which derives from Rathke's Pouch and can produce secondary bitemporal hemianopsia and hypopituitarism
Primary Brain Tumors-Child Peak Incidence: Highly malignant cerebellar tumor?
Medulloblastoma, can compress 4th ventricle and cause hydrocephalus. See rosettes or pseudorosettes.
Primary Brain Tumors-Child Peak Incidence: Cerebellar tumor associated with von Hippel-Landau syndrome?
Hemangioblastoma, see foamy cells and high vascularity, can produce excess EPO-->polycythemia.
Primary Brain Tumors-Child Peak Incidence: Commonly found in fourth ventricle, causing hydrocephalus?
Ependyomomas, which have perivascular rosettes and rod-shaped blepharoblasts near nucleus on exam.
Primary Brain Tumors-Child Peak Incidence: Diffusely infiltrating glioma, usually found in posterior fossa?
Low-grade Astrocytoma
Primary Brain Tumors-Child Peak Incidence: Benign tumor often confused with pituitary adenoma?
Craniopharyngioma, which also is derived from Rathke's pouch, also presents with bitemporal hemianopsia, also calcified.
Common sites that receive metastatic tissue: To Brain?
Lung, Breast, Skin (melanoma), Kidney (renal cell carcinoma), GI. Lots of Bad Stuff Kills Glia. 50% of brain tumors are due to metastases.
Common sites that receive metastatic tissue: To liver?
Colon>Stomach>Pancreas>Breast>Lung. Cancer Sometimes Penetrates Benign Liver. Metastases much more common than primary liver tumors.
Common sites that receive metastatic tissue: To bone?
Breast, lung, thyroid, testes, kidney, prostate.=> "BLT with a Kosher Pickle."
Common sites that receive metastatic tissue: Most common organ receiving metastases?
Adrenal medulla, then cortex.
Common sites that receive metastatic tissue: Most common organ sending metastases?
Paraneoplastic effects of tumors: Cushing's Syndrome
ACTH/ACTH-like peptide from small-cell lung CA
Paraneoplastic effects of tumors: SIADH
ADH/ANP from small cell lung CA and intracranial neoplasms.
Paraneoplastic effects of tumors: Hypercalcemia
PTH-related peptide/TGF-alpha/TNF-Alpha/IL-2 from squamous cell lung CA, renal cell CA, Breast CA, multiple myeloma, bone metastasis.
Paraneoplastic effects of tumors: Polycythemia
EPO from renal cell CA.
Paraneoplastic effects of tumors: Lambert-Eaton Syndrome
Antibodies against presynaptic Ca2+ channels at NMJ, generated by Thymomas and bronchogenic CA.
Paraneoplastic effects of tumors: Gout
Hyperuricemia due to excess nucleic acid turnover, found in various neoplasms.
Cancer Epidemiology: Male incidence?
Prostate(32%)>Lung(16%)>Colon and Rectum (12%)
Cancer Epidemiology: Male Mortality?
Cancer Epidemiology: Female incidence?
Breast (32%)>Lung(13%)>Colorectal(13%)
Cancer Epidemiology: Female Mortality?
HEMATOLOGIC PATHOLOGY: Anemia presenting with increased TIBC, decreased ferritin, decreased serum iron.
Mycrocytic, Hypochromic, usually secondary to iron deficiency. Also seen with Thalassemia, lead poisoning
HEMATOLOGIC PATHOLOGY: Anemia in patients with B12/Folate deficiency
Macrocytic (MCV>100), presents with PMN hypersegmentation on blood smear. B12 deficiency presents with neuro effects, folate deficiency much easily reached through bad diet. Also seen in patients taking drugs blocking DNA synthesis (sulfa drugs, AZT)
HEMATOLOGIC PATHOLOGY: Anemia in patients with normocytic, normochromic smears?
Hemorrhagic, autoimmune hemolytic, enzyme defects (G6PD), bone marrow dz, anemia of chronic dz. Decreased serum haptoglobin and increased LDH indicate RBC hemolysis. Direct Coomb's test can show an immune-mediated process.
HEMATOLOGIC PATHOLOGY: Anemia in patients with a decreased TIBC, decreased serum iron, and decreased iron saturation?
Anemia of chronic disease
HEMATOLOGIC PATHOLOGY: Anemia in patients with an increased TIBC, decreased serum iron, and normal iron saturation?
Iron-deficiency anemia.
HEMATOLOGIC PATHOLOGY: Patient with normal TIBC, increased serum iron, and 100% iron saturation (normal is 20-50%)
Iron overload (hemosiderosis)
Aplastic Anemia: Patient presentation of Aplastic Anemia?
Patients with pancytopenia characterized by severe anemia, neutropenia, and thrombocytopenia caused by failure or destruction of multipotent myeloid stem cells.
Aplastic Anemia: What causes aplastic anemia?
Radiation, benzene, chloramphenicol, alkylating agents, antimetabolites, viral agents, Fanconi's anemia, idiopathic causes.
Aplastic Anemia: Common Sx?
Fatigue, malaise, pallor, purpura, mucosal bleeding, petechiae, infection.
Aplastic Anemia: How do the blood smear and bone marrow aspirate appear?
Blood smear: pancytopenia with normal cell morphology. Aspirate:hypocellular marrow with fatty infiltration.
Aplastic Anemia: What's the treatment of aplastic anemia?
Withdraw offending agent, BMT, RBC/platelet transfusion, G-CSF or GM-CSF.
Hereditary Spherocytosis: How do patients with hereditary psherocytosis present (smear and labs)?
Smear shows microcytic RBCs that are small and round with no central pallor. The patients will have normal Hgb and MCV.
Hereditary Spherocytosis: What's the cause of hereditary spherocytosis?
Intravascular hemolysis due to spectrin defect.
Hereditary Spherocytosis: How is it confirmed and tested?
Will be Coombs' negative (unlike warm antibody hemolysis), can perform osmotic fragility test.
Hereditary Spherocytosis: What are some associated diseases?
Gallstones, splenomegaly, anemia, and jaundice.
Blood Dyscrasias-Sickle Cell Anemia: What is the HbS mutation?
Glutamate-->Valine in a Beta chain. Heterozygotes are usually malaria-resistant. *% of Af-Ams carry the HbS trait, 0.2% have the disease.
Blood Dyscrasias-Sickle Cell Anemia: What can precipitate sickling?
Low O2, dehydration.
Blood Dyscrasias-Sickle Cell Anemia: What are the common complications of HbS homozygotes?
aplastic crises from parvovirus infection, autosplenectomy, risk of encapsulated organism infection, salmonella osteomyelitis, vaso-occlusive pain crises, and splenic sequestration crises.
Blood Dyscrasias-Sickle Cell Anemia: What is the HbC defect?
Different Beta-chain mutation, the patients with HbC or HbSC have milder dz than HbSS patients.
Blood Dyscrasias-Sickle Cell Anemia: What are the treatment options?
Hydroxyurea (increased HbF) and bone marrow transplantation.
Blood Dyscrasias-Alpha-Thalassemia: What populations have the most prevalence?
Mediterranean populations. (thalaSEAmia)
Blood Dyscrasias-Alpha-Thalassemia: What is the etiology?
Underproduction of the alpha-globin chain, with no compensatory increase of any other chains. HbH has Beta-4 tetramers and lacks 3 alpha-globin genes.
Blood Dyscrasias-Alpha-Thalassemia: What is the presentation of a patient lacking all four alpha-globin genes?
hydrops fetalis and intrauterine fetal death.
Blood Dyscrasias-Beta-Thalassemia: Patient Presentation of Beta-Thalassemia major?
severe anemia requiring blood transfusion. Cardiac failure is often due to secondary hemochromatosis.
Blood Dyscrasias-Beta-Thalassemia: Etiology of Beta-Thalassemia major?
Beta chain is absent, fetal Hgb production is compensatorily increased but is inadequate.
Blood Dyscrasias-Beta-Thalassemia: Etiology of Beta-thalassemia minor?
The Beta chain is underproduced, again see fetal HgB compensatory increase. HbS/Beta-thalassemia heterozygote has mild to moderate disease.
DIC: What is the definition of DIC?
Activation of the coagulation cascade leading to microthrombi and global consumption of platelets, fibrin, and coagulation factors.
DIC: What causes DIC?
Obstetric complications (most common cause), gram-negative sepsis, transfusion, trauma, malignancy, acute pancreatitis, nephrotic syndrome.
DIC: What are the lab findings in DIC?
Increased PT, increased PTT, incrased fibrin split products (D-dimers), decreased platelet count.
Bleeding Disorders: What disorder type presents with mucous membrane bleeding, petechiae, purpura, and prolonged bleeding time?
Platelet abnormalities (microhemorrhages), which can be caused by ITP (antiplatelet antibodies and increased megakaryocytes), TTP (schistocytes), drugs, and DIC (increased fibrin split products).
Bleeding Disorders: What disorder type presents with hemarthroses (bleeding into joints), easy brusing, prolonged PT and/or PTT?
Coagulopathies (macrohemorrhages), which can be caused by Hemophilia A/B and von Willebrand's disease (most common)

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