Pathophys flashcards
Honeycomb lung
Ideopathic Pulmonary fibrosis Note: Fibrosis mediated by TGF-B from injured Pneumocytes
unexplained Pleural Effusion in young woman
Lupus (until proven otherwise)
Egg shell Calcification of Hilar Nodes
Silicosis Note: Quartz–>Birefringent
Calcified plaque on Dome of Diaphragm/pleura
Asbestosis
Curshman Spirals and Charcot Leiden crystals
Asthma
Nasal Polyps in a child
Cystic Fibrosis
Nasal Polyps in an adult female
long-time aspirin use or allergies
Vinyl Chloride, Arsenic, Thorotrast
Liver Angiosarcoma
Myasthenia Gravis
Thyoma or Thyroid Follicular B cell hyperplasia
Bilateral Internuclear Opthalmoplegia
Multiple Sclerosis
Non-bilious projectile vomiting in a 3-5 week old
Congenital Pyloric Stenosis Note: Can be acquired if infant treated w/ erythromycin when
False diverticulum through Cricopharyngeus m.
Zenker Diverticulum
Giant rugal folds w/ mucus cell hyperplasia
Menetrier’s disease Note: Protein Losing Enteropathy, Atrophy of parietal cells, increased risk for adenocarcinoma
Bleeding in Gastric Ulcer
Left Gastric Artery
Perforation of Posterior Duodenal Ulcer
Pancreatitis or bleeding from Gastroduodenal artery
High Gastrin, low stomach acidity
Autoimmune chronic atrophic Gastritis Note: pernicious anemia
High Gastrin, high stomach acid
Zollinger Ellison Note: Pancreas mass, multiple/distal ulcers, MEN1
Signet Ring cells in Ovaries
Krukenberg Tumor Note: from Diffuse Gastric Adenocarcinoma
Severe pain in LUQ after eating
Ischemic colitis Note: splenic flexure
Pseudopolyps and crypt abscesses
Ulcerative colitis Note: Risk of Toxic Megacolon
Submucosal noncaseating granulomas
Crohn’s Disease
Skin flushing, diarrhea, Tricuspid Regurgitation
Carcinoid tumor from Ileum metastasized to liver Note: increased 5-HIAA in urine; must be in liver for Carcinoid Syn.
AST: ALT at least 2:1 and
Alcoholic Liver disease Note: GGT and ALP also elevated, but GGT vastly more elevated
Increased ALP and GGT
Cholestasis Note: Inc ALP w/o inc GGT–> osteoblastic activity in bone
Beading of the Bile ducts on ERCP
Primary Sclerosing Cholangitis Note: Jaundice, Severe Pruritis, and Hepatosplenomegaly
Antimitochondrial Antibodies
Primary Biliary Sclerosis Note: CD8 Tcell mediated granulomatous destruction of intrahepatic bile duct epithelium
Cirrhosis in a child
A1AT deficiency
Strictures, cobblestone, creeping fat
Crohn’s Disease Note: String Sign
Tumor at Junction of R and L Hepatic Ducts
Klatskin Tumor Note: Type of Cholangiocarcinoma
Superficial Migratory Thrombophelbitis (moving DVTs)
Pancreatic Cancer (Trousseau’s Syndrome) Note: CA19-9 monitored for remission; Painless Jaundice
RBC casts and linear immunostaining
Goodpastures disease Note: Anti-basement membrane Ab (collagen type 4)
Deposits in the Glomerular BM
Type 2 Membranoproliferative Glomerulonephritos Note: C3 Nephritic Factor and very low levels of serum C3–>C3 nephritic factor stabilizes C3 convertase
Fever, Flank Pain, WBC casts
Acute Pyelonephritis
Thyroidization of the kidney
Chronic Pyelonephritis
Bilateral Renal Cell Carcinoma, Hemangioblastoma in retina or cerebellum
Von Hippel Lindau Note: VHL on Chr 3; clear cells contain lipid and glycogen; Cerebellar Hemangiomas
Unilateral palpable flank mass in child w/ HTN
Wilm’s Tumor Note: Contains abortive glomeruli and tubules, primitive blastemal cells, and rhabdomyoblasts
Sudden onset of testicular pain post trauma and absent cremaster reflex
Testiticular torsion
Biggest risk factor for testicular cancer
Cryptorchid testicle Note: especially if intra-abdominal
Testicular cancer in a guy >50
Malignant Lymphoma
Delayed puberty and anosmia
Kallmann’s Syndrome Note: Failure of migration of GnRH secreting cells and olfactory bulbs
Best Marker for Menopause
Increased FSH Note: LH will also be increased, estradiol will be decreased
Most common cause of infertility & Ectopic Pregnancy
PID
Tumor with Reinke Crystals
Leydig Cell Tumor Note: may produce androgens
First test if Pregnant woman w/ vaginal bleeding
Pelvic Ultrasound Note: Do NOT do pelvic exam; Painless (placenta previa); Painful + Contractions (Abruptio Placentae)
Amioncentesis with Inc AFP? Dec AFP?
Inc: Neural Tube Defect; Dec: Down Syndrome Note: Down: Dec AFP, Dec urine estriol, and Inc B-hCG and inhibin A
Hypothyroidism w/ germinal centers on biopsy
Hashimoto’s Thyroiditis Note: Lymphocyte infilitrate; if mixed immune infiltrate and painful, think thyroiditis (DeQuervain)
Cancers secreting PTHrP
SqCC of Lung and Renal Cell Carcinoma
Syndromes w/ Pheochromocytoma
Neurofibromatosis 2, MEN IIa and IIb, Von Hippl Lindau (bilateral)
Chaotic eye movements and myoclonic jerks in a child
Neuroblastoma Note: Usually located in Adrenal gland; N-Myc amplification; Homer Wright Rosettes
Secretory Diarrhea and Achlorhydria
VIPoma Note: can be tx w/ octreotide
Eczema, Thrombocytopenia, and Recurrent infections
Wiscott Aldrich Note: X linked deficiency of B and T lymphocytes with eczema and thrombocytopenia
Port wine stain w/ ipsilateral leptomeningeal angioma, seizures
Sturge Weber Syndrome
Ash Leaf spots, CNS hamartomas, subependymal astrocytomas, cardiac rhabdomyoma, renal angiomyolipoma
Tuberous Sclerosis
Bitemporal Hemianopia and headaches in a child
Craniopharyngioma Note: Derived from Rathke’s pouch, oral ectoderm, same as Anterior Pituitary
Bitemporal Hemianopia and headaches in an adult
Pituitary Adenoma Note: Most commonly prolactinoma
Solid tumor w/ small blue cells in cerebellum of child
Medulloblastoma Note: Drop Metastasis
Pseudopalasading tumor cells around necrosis
Glioblasoma multiforme
New Onset Seizures due to whorled tumor
Meningioma Note: Psammoma bodies
Tinnitis, Vertigo, and Hearing loss
Meniere Disease Note: Increased volume of endolymph in inner ear due to defective reabsorption
Fluctuating Consciousness, hallucinations, and dementia; late Parkinsonian effects
Lewy Body Dementia
coarse facial features, clouded corneas, high plasma lysosomal enzymes, restricted joint movement
I cell Disease Note: Failure of Golgi to add Mannose-6-Phosphate signal to proteins destined for Lysosomes–>excreted instead
Bronchiectasis/Recurrent Pulmonary infections, infertility, and Situs Inversus
Kartagener’s Disease Note: dynein arm defect in cilia
Telangiectasia, Epsitaxis, GI bleeding, skin discoloration, AV Malformations
Osler-Weber-Rendu Syndrome (Hereditaty hemorrhagic telangiectasia)
Duchenne Muscular Dystrophy mutation
X-linked Frameshift mutation
Becker Muscular Dystrophy mutation
X-linked Point mutation
Difficulty releasing grib/doorknob, muscle wasting, frontal balding, cataracts, testicular atrophy
Myotonic Muscular Dystrophy Note: CTF trinucleotide repeats in DMPK gene; Distal Weakness in hands/feet; Type 1 fibers more affected
Macroorchidism, Large Jaw, large/everted ears, mitral valve prolapse, developmental delay
Fragile X Syndrome Note: X linked trinucleotide repeats affecting the METHYLATION of FMR1 gene (fragility only describes in vitro not in vivo);
Rocker bottom feet, lowset ears, micrognathia
Edwards Note: Trisomy 18
Rocker bottom feet, cleft lip/palate, holoprosencephaly, polydactyly
Patau Note: Trisomy 13
Microcephaly, High pitched crying, epicanthal folds, severe intellectual disbility, VSD
Cri du chat Note: Chr 5 short arm deletion
Asymptomatic accumulation of fructose in blood/urine
Essential Fructosuria (Defect in Fructokinase)
Intellectual disability, jaundice, failure to thrive, hepatomegaly, and cataracts in an infant
Classic Galactosemia Note: Defect in Galactose-1-P Uridyltransferase–>accumulation of galactitol and depletion of phosphate
Infantiile Cataracts and failure to track objects with galactose in blood/urine
Galactokinase Deficiency Note: accumulation of Galactitol due action of Aldolase reductase on galactose
Hypoglycemia, jaundice, cirrhosis, and vomiting in an infant after consuming juice/fruit
Fructose Intolerance Note: Deficiency of Aldolase B (Auto rec), accumulation of Fructose-1-p causes decreased phosphate, which inhibits glycogenolysis and gluconeogenesis
Hyperammonemia with excess orotic acid
Ornithine Transcarbamylase Deficiency Note: X-linked recessive, often evident in first few days of life: Increased Orotic Acid, Decreased BUN, Hyperamonemia symptoms (Kernicterus, somnolence, vomiting, cerebral edema
Excess orotic acid with Megaloblastic Anemia
Orotic Aciduria Note: deficiency of UMP Synthase, Megaloblastic anemia NOT treated with folate or vit B12 supplement
Intellectual disability, mousy.musty body odor, seizures, and eczema corrected with Tetrahydrobiopterin supplementation
Malignant PKU Note: Deficiency in Dihydrobiopterin Reductase; May also present with Prolactinemia because Tetrahydrobiopterin is also cofactor for Tyrosine hydroxylase–> decreased activity causes decreased DOPA, which causes decreased Dopamine, which removes inhibiton of prolactin secretion
Dark connective tissue, brown pigmented sclera, urine turns black w/ prolonged air exposure, Debilitating arthralgia
Alkaptonuria Note: Deficiency of Homogenisate oxidase–> accumulation of homogentisic acid and failure to breakdown tyrosine to Fumarate
Osteoporosis, Tall stature, kyphosis, lens subluxation (down and in), thrombosis/atherosclerosis w/ stroke and MI risk
Homocystinuria Note: Due to Deficiency of either: MethionineCystathionine–>Cysteine
-Cystathionine Synthase –>supplement with inc cysteine, B6/pyridoxine, and dec methionine
-Homocysteine Methyltransferase (Methionine Synthase) Deficiency – inc methionine in diet
Renal Cystine stones (hexagonal)
Cystinuria Note: Hereditary defect in Renal Proximal tubule and intestinal reaborption of Cysteine, Ornithine, Lysine, and Arginine
Severe retardation, disability, and sweet smelling urine
Maple Syrup Urine Disease Note: Deficiency in Alpha-Ketoacid Dehydrogenase (uses thiamine)–>blocks degradation of Branched amino acids (Valine, Leucine, Isoleucine), Isoleucine causes burnt sugar urine smell
Glycogen storage disease causing cardiomyopathy
Pompe Disease (Type II) Note: Deficiency in Lysosomal a-1,4-glucosidase (acid maltase)
Glycogen storage disease causing painful muscle cramps, myoglobinuria, and arrhthmias
McArdle Disease (Type V) Note: Deficiency in Myophosphorylase (skeletal muscle glycogen phosphorylase)
Glycogen storage disease with hypoglycemia and accumulation of short outer Dextrin-like structures
Cori Disease (Type III) Note: Deficiency in Debranching enzyme (a-1,6-glucosidase)
Lysosomal Storage disease with Aseptic necrosis of the femur, pancytopenia, hepatosplenomegaly, and bone crisises
Gaucher’s Disease Note: Most common LSD, Gaucher cells (lipid-laden macrophages that look like crumpled paper)
Glucocerbrosidase deficiency–>accumulation of Glucocerebroside
Jaundice (CB) in a less than 2 month old
biliary atresia (+acholic stool) Note: If UCB, think Crigler Najjar
Jaundice in a 2-10 year old
Biliary cyst Note: (70% have abnormal pancreatobiliary junction)
Microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure
Hemolytic Uremic Syndrome Note: Shigella or EHEC
Diarrhea that is initially watery then becomes bloody and rose spots appear on the abdomen
Salmonella typhi Note: Can cause dramatic inflammation in Peyer’s pathes–> intestinal hemorrhage/perforation and death; can colonize the gallbladder
Retroperitoneal Hematoma following trauma (Motor crash)
Bleeding from Pancreas Note: Spleen is intraperitoneal
Pt w/ S3 gallop, orthopnea/dyspnea, and MR is tx w/ diuretic and both heart sounds disappear; What was the pathophys of the MR?
Functional Mitral Regurgitation Note: S3 gallop indicated volume overload, which the diuretic treated; elimination of the holosystolic murmur @ the apex means the valves were normal, just stretched apart
Cerebral tumor: S-100+, elongated cell w/ regular oval nuclei, and alternating areas of high and low cellularity
Schwannoma
Well circumscribed tumor at grey/white matter junction
Metastatic brain tumor Note: often multiple, often from lungs
Multiple liver nodules w/o increased AFP
Metastatic liver cancer Note: Usually from colon
Fixed wide splitting of S2
ASD
Inspiration decreases the A2/P2 splitting
Paradoxical Split S2 Note: Aortic stenosis or Left Bundle Branch block
Both Aortic and Pulmonic regurgitation is heard where?
Left Sternal border Note: Aortic Regurg not heard at the aortic area (stenosis/sclerosis of valves only)
Systolic murmur at the Left Sternal Border
Hypertrophic Cardiomyopathy Note: Murmur involves the hypertrophied interventricular septum and MITRAL VALVE
Valsalva increased the intensity of one murmur only, which?
Hypertrophic Cardiomyopathy Note: Obstruction greater at lower ventricular volume
Sign a person w/ severe volume overloaded or hypertrophied heart failure has Afib
Disappearence of S4 Note: S4 is caused by atrial contraction
Murmur that radiates to carotids and causes Pulsus Parvus et tardus
Aortic stenosis Note: intensity increases w/ increased venous return (opposite of hypertrophic cardiomyopathy)
Young pt w/ recurrent episodes of syncope and deafness
Jervell Lange Nielsen Syndrome Note: Autosomal recessive Long QT Syndrome; Romano-Ward is AutoDom (cardiac only)
Progressive lengthening of the PR interval until beat is dropped, followed by normal PR
Mobitz Type 1 Second Degree Heart Block
Pacemaker for the ventricles in 3rd degree Heart block
AV node (45-55 bpm)
Recominant form of B-type Natuiretic peptide used to treat heart failure
Nesiritide Note: BNP is normally released form the Ventricular Myocytes and acts like ANP–>vasodilation, decrease Na reabsorption in collecting tubule, Increase GFR (constrict efferent and dilate afferent)
Reccurent Epistaxis,spider like skin lesions, and guiaiac positive stool
Osler-Weber-Rendu Syndrome (Hereditaty hemorrhagic telangiectasia)
Ischemic Neuron Injury histology
“Red Neuron” w/ eosinophilic cytoplasm, Loss of Nissl, Pykinosis of nucleus
Axonal Damage/Axonal Reaction Histology
Swollen neuron body, dispersion of Nissl, eccentric nucleus w/ large nucleolus Note: Wallerian degeneration
Ulcers where in the GI tract are virtually never malignant
Duodenal ulcers Note: Gastric ulcers have a high potential of being malignant and must be biopsied
Fern Leaf marks (Lichtenburg figures), Secondary burns, and death via arrthymia
Person died from lightening strike Note: Lichtenberg figures are characteristic; death via arrhythmia or respiratory depression
Bilateral absence of the Vas Deferens
Cystic Fibrosis Note: Azoospermia
Parotid tumor with germinal centers
Warthin Tumor Note: Most common parotid tumor is pleomorphic adenoma (stroma and epithelial)
2 things suspected if abdominal pain with meals
gastric ulcer and ischemic colitis Note: Ischemic colitis is typically 30-60 min post meal and pt has wt loss
Histology of Reye Syndrome
Microvesicular fatty change Note: Not necrosis
Air in the gallbladder/biliary tree w/ bowel obstruction
Gallstone ileus Note: Fistula between gallbladder and small intestine; due to longstanding cholelithiasis
Cerebellar defects/atrophy, spider angiomas, and recurrent respiratory infections
Ataxia-Telangectasia Note: Defect in DNA double strand break repair
Reccurent Hemorrhagic strokes in an elderly person
Cerebral Amyloid Angiopathy Note: Ab amyloid, usually lobar strokes and are less severe
Child presents w/ enlarged testicle w/ fluid in scrotum
Hydrocele Note: Fluid in Tunica Vaginalis, communicating hydrocele if processus vaginalis is patent; Tunica vaginilis derived from the peritoneum; highly associated w/ inguinal hernia
Acute Painless monocular vision loss
Central Retinal Artery occlusion Note: Pale retina w/ Cherry Red macula; commonly associated w/ Afib
Coffee ground emesis
Blood exposed to gastric acid
BRAF V600E mutation
Malignant Melanoma Note: Vemurafenib–inhibits B-Raf w/ V600E mutation; Often metastasizes to the brain, causing seizures
Jejunal and distal duodenal ulcers, diarrhea
Gastrinoma/Zollinger Ellison
Severe Abdominal Pain, Port-wine colored urine, polyneuropathy, and psychological disturbances
Acute Intermittant Porphyria Note: Defect in Porphrobilinogen Deaminase causes buildup of porphrobilinogen and ALA; TX w/ glucose and Heme to inhibit ALAS
Neutrophils with bilobed nuclei (no effect on activity)
Pelger-Huet Anomaly Note: seen after chemotherapy–>two nuclear masses connected w/ a thin chromatin filament
Autoimmune hemolytic anemia, smudge cells, CD5/Cd23+
CLL
Lytic bone lesions in a child, skin rash, +/- recurrent otitis media w/ a mass involving the mastoid bone
Langherhans cell Histiocytosis Note: Birbeck granules, S-100+ (mesodermal origin)