Pathology (Sections 1-10) Flashcards
Pathophysiology:
Wiskott-Aldrich Syndrome
Xp11.23 Mutation
Depleted systemic T-Cell Population;
Paradoxical increase in IgA, IgE
Leading cause of Mental Retardation Oblique Palpebral Fissures Epicanthal Folds Acute Megakaryoblastic Leukemia Endocardial Cushion Defect
Down Syndrome
“Dewdrops on a Rose Petal” intraepithelial vesicles
VZV
Pathophysiology:
Down Syndrome
Trisomy 21
MC: Non disjunction of Chromosome 21
Pathophysiology:
von Gierke Disease
Glucose-6-Phosphatase Deficiency
Pathophysiology:
Pompe Disease
Lysosomal Acid Maltase Deficiency
Metabolism characterized by high glucose uptake with marked preference for fermentation.
Seen in cancer cells
Warburg Metabolism
Plasma Cells with cytoplasmic granules containing immunoglobulins
Seen in Trypanosomiasis
Mott Cells
Pathophysiology: Hunter Syndrome (MPS II)
L-Iduronosulfate Sulfatase Deficiency
X-Linked
Eunuchoid Body Habitus
Mitral Valve Prolapse (50%)
Male Hypogonadism
T2DM, MS
Klinefelter Syndrome
Gaucher Cells
Distended Phagocytes:
“Crumpled Tissue Paper” Appearance
Gaucher Disease
Most common sexually-transmitted bacterial pathogen
Chlamydia trachomatis
Histology:
Maltese Cross Pattern,
Parasites without Hemozoin
Babesia
MoA: p53 Tumor Suppressor Gene
Central monitor of stress;
Synthesis of p21 arrests cycle at G1-S
Libman-Sacks Endocarditis
Systemic Lupus Erythematosus
Triad of Wiskott-Aldrich Syndrome
- Thrombocytopenia
- Immunodeficiency
- Eczema
Etiologic Agent: Stomach CA, Esophageal CA
Nitrosamine
Expressivity
Variability of phenotype expression
Etiologic Agent: Urothelial Bladder CA
Aniline
Commonly involved heart valve in fungal endocarditis
Tricuspid Valve
Pathophysiology: Hurler Syndrome (MPS I)
Alpha-L-Iduronidase Deficiency
Autosomal Recessive
Etiologic Agent: Acute Myeloid Leukemia
Benzene
Necrotizing pneumonia
Target Lesions
Sepate Hyphae at acute angles
Aspergillosis
Alternating RBC-rich and -depleted areas within thrombi?
Lines of Zahn
Autoantibody of choice for SLE screening?
ANA
Pathophysiology: Chediak-Higashi Syndrome
Defect in phagolysosome membrane traffic
Etiologic Agent: Malignant Mesothelioma
Asbestos
Beefy red ulcers with indurated borders
Klebsiella granulomatis
Granuloma inguinale
Pathophysiology: Gaucher Disease
Glucerebrosidase Deficiency
Routes of Metastasis
Carcinoma: Lymphatic
Sarcoma (+ liver, lung, and kidney): Hematogenous
Transforming Virus
Paracortical Hyperplasia at LN
Heterophile (+)
EBV
Macro-orchidism (90%)
Second leading cause of Mental Retardation
Large Mandible
Everted Ears
Fragile X Syndrome
Pathogen: Bladder SCCA
Schistosoma haematobium
Migratory Thrombophlebitis
Trosseau Syndrome
Pathophysiology: Lemierre Syndrome
Fusobacterium necrophorum infection of the lateral pharyngeal space with septic jugular vein thrombosis
Pathophysiology: Glanzmann Thrombasthenia
Gp IIb/IIIa Deficiency
Pathophysiology: Patau Syndrome
Trisomy 13
Leishmaniasis (Old World)
Visceral:
L. donovani
L. infantum
Cutaneous:
L. major
L. tropica
Oncogenes that promote VEGF production
Ras, Myc, Mapk
PTEN Mutation
Breast CA, Endometrial CA
Central coagulation necrosis surrounded by palisading macrophages and fibroblasts with abundant plasma cells in infiltrate.
Seen in Tertiary Syphilis
Gumma
Hamartoma
Disorganized histology, normal location
N-formylmethionine
Bacterial Product
Bony changes in Congenital Syphilis
Saber Shins (excessive bone growth) Saddle Nose (destruction of Vomer) Hutchinson Teeth (peg-shaped) Osteochondritis Periostitis
Pathophysiology: Hyper IgM Syndrome
Absent CD40L; Class switching not possible for B-Cells
Pathophysiology: Tay-Sachs Disease
Defective alpha-subunit of Hexosaminidase A;
Accumulation of GM2 Ganglioside
Pathophysiology: Turner Syndrome
Complete or Partial X-Chromosome Monosomy (MC: 45 XO, 57%)
Meyer-Kouwenaar Bodies
Dead worms surrounded by hyaline embeded in epithiloid granulomas
(Filariasis)
Lipofuschin
“Wear and Tear” Pigment
Sign of Free Radical Injury
Pathophysiology: Bernard-Soulier Syndrome
Gp Ib Deficiency
Pathophysiology: Ehler-Danlos Syndrome
Heterogenous group of disorders involving fibrillar collagen synthesis
(Autosomal Dominant)
Pathophysiology: Hereditary Angioedema
Decreased Response to C1 Inhibitor
Pathophysiology: Cori Disease
Debranching Enzyme Deficiency
Homogentistic Acid
Ochronosis
Seen in Alkaptonuria
Mental Retardation
Ataxic Gait
Seizures
“Happy Puppet”
Angelman Syndrome
Pathophysiology: Caisson Disease
Chronic Air Emboli in Skeletal Tissue
Pathophysiology: Anderson Disease
Branching Enzyme Deficiency
Parotid Involvement,
Testicular Swelling,
Pancreatic Fat Necrosis,
CNS Demyelination
Mumps
Leading cause of preventable blindness in Sub-Saharan Africa
Leopard/Lizard/Elephant Skin
Anterior Chamber: Iridocyclitis, Glaucoma
Atrophy of Choroid and Retina
Onchocerca volvulus
Etiologic Agent: Prostatic CA
Cadmium
Most common lysosomal storage disorder?
Gaucher Disease
Hyperkalemia
Hyperphosphatemia
Hyperuricemia
Hypocalcemia
Tumor Lysis Syndrome
Pathophysiology: Niemann-Pick Type A & B
Sphingomyelinase Deficiency;
Accumulation of Sphingomyelin
Pale, airless lungs in stillborn infants
Pneumonia Alba
Pathophysiology: Hers Disease
Hepatic Glycogen Phosphorylase Deficiency
Pathophysiology: Familial Hypercholesterolemia
LDL Receptor Mutation
Autosomal recessive types of Ehler-Danlos?
Kyphoscoliosis (VI),
Dermatosparaxis (VIIC)
Pathophysiology: Combined Variable Deficiency
Unknown
Sirtuin
Promotes longevity.
Increased activity during fasting state.
Pathophysiology: Huntington Disease
CAG Expansion
HTT Gene
Ch4p16.3
Penetrance
Proportion of a given genotype to express a certain phenotype
Nurse Cells
Infected skeletal muscle cells with loss of striations (Trichinosis)
Pathophysiology: Marfan Syndrome
Fibrillin-1 Defect
Autosomal Dominant
Pathophysiology: DiGeorge Syndrome (Velocardiofacial Syndrome)
Chromosome 22q11.2 Deletion
Pathophysiology: Paroxysmal Nocturnal Hemoglobinuria
Decreased Decay Accelerating Factor (DAF), and CD59
Cytoplasmic Inclusions:
Whorled or “Onion-skin” Configuration
Cherry Red Spot (Retina)
Tay-Sachs Disease
PTCH1 Mutation
Gorlin Syndrome
Mental Retardation Hypotonia Hyperohagia Obesity Hypogonadism Small Hands and Feet
Prader-Willi Syndrome
Hepatosplenomegaly
Cherry Red Spot (Macula)
Zebra Bodies
Niemann-Pick Disease (Type A & B)
Pathophysiology: Chronic Granulomatous Disease
Defective Oxidative Burst
Myositis Ossificans
Ectopic Bone in Muscle
Metaplasia
Mikulicz Syndrome
ANY inflammation and enlargement of the lacrimal or salivary glands
Pathophysiology: Edward Syndrome
Trisomy 18
Pathophysiology: Severe Combined Immunodeficiency
Loss in cytokine receptor function; impaired early developmnt of T-Cells (X-Linked)
ADA Deficiency; impaired DNA synthesis via deoxyadenosine accumulation (Autosomal Recessive)
Most common form of EPTB
Scrofula
Features of DiGeorge Syndrome?
CATCH 22:
Cardiac Anomalies Abnormal Facies Thymic Hypoplasia Cleft Palate Hypocalcemia
Pathophysiology: Klinefelter Syndrome
At least two X-Chromosomes and at least one Y-Chromosome (MC: XXY, 90%)
LC3
Marker for Autophagy
Pathophysiology: Prader-Willi Syndrome
Deletion of Paternal Ch15q11.2q13
Relentlessly progressive dementia and movement disorders from degeneration of Striatal Neurons
Huntington Syndrome
Difference between Ghon Focus and Ghon Complex?
Pulmonary Hilar LN Involvement
Pathophysiology: Angelman Syndrome
Deletion of Maternal Ch15q12
Pathophysiology: Isolated IgA Deficiency
Unknown; may be familial or acquired
Russell Bodies
Intracytoplasmic vacuoles seen in activated Plasma Cells
Pathogen: Chagas Disease
Trypanosoma cruzi