Pathology (Sections 1-10) Flashcards by Carl Uy

Pathophysiology:

Wiskott-Aldrich Syndrome

Xp11.23 Mutation

Depleted systemic T-Cell Population;
Paradoxical increase in IgA, IgE

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Leading cause of Mental Retardation
Oblique Palpebral Fissures
Epicanthal Folds
Acute Megakaryoblastic Leukemia
Endocardial Cushion Defect

Down Syndrome

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“Dewdrops on a Rose Petal” intraepithelial vesicles

VZV

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Pathophysiology:

Down Syndrome

Trisomy 21

MC: Non disjunction of Chromosome 21

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Pathophysiology:

von Gierke Disease

Glucose-6-Phosphatase Deficiency

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Pathophysiology:

Pompe Disease

Lysosomal Acid Maltase Deficiency

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Metabolism characterized by high glucose uptake with marked preference for fermentation.

Seen in cancer cells

Warburg Metabolism

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Plasma Cells with cytoplasmic granules containing immunoglobulins

Seen in Trypanosomiasis

Mott Cells

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Pathophysiology: 
Hunter Syndrome (MPS II)

L-Iduronosulfate Sulfatase Deficiency

X-Linked

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Eunuchoid Body Habitus
Mitral Valve Prolapse (50%)
Male Hypogonadism
T2DM, MS

Klinefelter Syndrome

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Gaucher Cells

Distended Phagocytes:
“Crumpled Tissue Paper” Appearance

Gaucher Disease

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Most common sexually-transmitted bacterial pathogen

Chlamydia trachomatis

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Histology:
Maltese Cross Pattern,
Parasites without Hemozoin

Babesia

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MoA: p53 Tumor Suppressor Gene

Central monitor of stress;

Synthesis of p21 arrests cycle at G1-S

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Libman-Sacks Endocarditis

Systemic Lupus Erythematosus

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Triad of Wiskott-Aldrich Syndrome

Thrombocytopenia
Immunodeficiency
Eczema

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Etiologic Agent: Stomach CA, Esophageal CA

Nitrosamine

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Expressivity

Variability of phenotype expression

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Etiologic Agent: Urothelial Bladder CA

Aniline

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Commonly involved heart valve in fungal endocarditis

Tricuspid Valve

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Pathophysiology: Hurler Syndrome (MPS I)

Alpha-L-Iduronidase Deficiency

Autosomal Recessive

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Etiologic Agent: Acute Myeloid Leukemia

Benzene

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Necrotizing pneumonia
Target Lesions
Sepate Hyphae at acute angles

Aspergillosis

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Alternating RBC-rich and -depleted areas within thrombi?

Lines of Zahn

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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

Triad of Sjogren Syndrome

1. Dry Eyes (Keratoconjunctivitis sicca) 2. Dry Mouth (Xerostomia) 3. Rheumatoid Arthritis

Ovarian Streak, SHOX Haploinsufficiency, Webbed Neck, Preductal Coarctation, Bicuspid AV

Turner Syndrome

Autoantibodies involved in Scleroderma?

Anti-DNA Topoisomerase I (Diffuse) Anti-Centromere (Limited) Anti-RNA Pol III (Renal Crisis)

Pathophysiology: Ataxia-Telangiectasia

ATM Gene Mutation Decreased IgA and IgG; thymic hypoplasia

Durck Granulomas

Perivascular ring hemorrhages in CNS | Malaria

Yeast with prominent polysaccharide PAS (+), Mucicarmine (+) Soap-bubble lesions in CNS

Cryptococcus neoformans

Most frequent autoantibodies involved in Sjogren Syndrome?

Anti-Ro (SS-A) and Anti-La (SS-B)

Cestodes Cystercerci Ovoid, white to opalescent, grape-sized with invaginated scolex

Taenia solium

Subpleural consolidation at either the inferior upper lobe or superior lower lobe of the lung.

Ghon Focus

Pathophysiology: Factor V Leiden

Decreased response to Protein C

Lardaceous/Tapioca Spleen

Amyloidosis

Triad of Scleroderma

1. Autoimmunity 2. Vascular Damage 3. Collagen Deposition

Fleur-de-lis pattern of necrotizing pneumonia (pale necrotic centers with hemorrhagic periphery) Perivascular Blue Haze (coagulative vascular necrosis)

Pseudomonas aeruginosa

Choristoma

Normal histology, ectopic location

Most Common Malignant Causes of Mortality

1. Lung CA 2. Breast CA or Prostate CA 3. Colorectal CA

Pathophysiology: McArdle Disease

Muscle Glycogen Phosphorylase Deficiency

Most common cause of death in childhood Malaria

CNS Involvement

Synovitis of the fingers Raynaud Phenomenon Mild Myositis Autoantibody: Anti-RNP

Mixed Connective Tissue Disease

Leishmaniasis (New World)

Visceral: L. chagasi Cutaneous: L. mexicana L. brazilensis

Apical pulmonary consolidations in Secondary PTB

Simmon Focus

Psammoma Bodies

Dystrophic Calcifications

Pathophysiology: Fragile X Syndrome

CGG Expansion FMR 1 Gene Chromosome 10

Hepatosplenomegaly Pancytopenia Hyperpigmentation Weight Loss Kala-azar

Visceral Leishmaniasis

Necrosis, infiltrates, and neovascularization found near the opening of the Stensen Duct in Measles

Koplik Spots

Non-septate hyphae at right angles

Mucormycosis

Most common cause of death in Scleroderma?

PAH and Interstitial Lung Disease

Autoantibody involved in Drug-induced Lupus?

Anti-histone Antibody

Pathophysiology: Tropical Pulmonary Eosinophilia

Type I HSR to microfilariae (Filariasis)

20:4(w-6)

Arachidonic Acid

Cestodes Hydatid Cyst Degenerating scolices (Hydatid Sand) Anaphylactic Reactions

Echinococcus granulosus

CREST Syndrome

``` Calcinosis Raynaud Phenomenon (MC extracutaneous manifestation) Esophageal Dysmotility Sclerodactyly Telangiectasia ``` Otherwise known as Limited Scleroderma/lcSSc

Most common site of EPTB along GI Tract

Ileum

Pathogen: Granulomatosis Infantiseptica

Listeria monocytogenes

Most common cause of fungal endocarditis Yeast that produces a gray-white, dirty-looking pseudomembrane

Candida albicans

Pathophysiology: Bruton X-Linked Agammaglobulinemia

Btk Gene Defect Arrest in B-Cell development

Autoantibody that correlates disease activity in SLE?

Anti-dsDNA

True or False? | Grading has greater clinical value than Staging.

False

Lepra Cells

Lipid-laden macrophages (Lepromatous Leprosy), with globi

Symbiotic bacteria required for nematode development and reproduction

Wolbachia

Hallmark of Malignancy

Anaplasia

Donvan Bodies

Gram negative coccobacilli in macrophages (Klebsiella granulomatis)

Etiologic Agent: Hepatic Angiosarcoma

Vinyl Chloride, Arsenic

Most common proto-oncogene abnormality in human tumors

RAS

Mononuclear Giant Cells with eosinophilic nuclear and cytoplasmic inclusions

Warthin-Finkeldey Cells (Measles)

MoA: Rb Tumor Suppressor Gene

Phosphorylated: Promote replication Dephosphorylated: Arrest at G1-S

Painful genital lesions with non-indurated borders and yellow-gray exudates Haemophilus ducreyi

Chancroid

Onset of TH1 response in Tuberculosis

2-4 weeks post-infection

Intranuclear basopihilic inclusions surrounded by a clear halo (Owl's Eye) Heterophile (-)

CMV

Pathogen: Cholangiocarcinoma

Clonorchis sinensis, | Opistorchis viverrni

Multinucleated syncitia with inclusions Pink to purple intranuclear inclusions (Cowdry Type A)

HSV

Tumor factor that promotes VEGF production

Hypoxia Inducible Factor - 1 Alpha (HIF-1a)

Most common mechanism of evading apoptosis

Disruption of intrinsic apoptotic pathway

Biochemical basis of Cancer Cachexia

TNF-Alpha

Desmoplasia

Formation of abundant collagenous stroma

Pathophysiology: Li-Fraumeni Syndrome

TP53 mutation leading to increased risk of malignancy

Most Common Cancers in Children

1. Acute Lymphoblastic Leukemia 2. CNS Tumors 3. Burkitt Lymphoma

Effect of Carbon Monoxide on ETC

Cytochrome C Oxidase (Complex 4) Inhibitor

Coma and death in Carbon Monoxide poisoning

60-70% Saturation

Ring sideroblasts Hypochromic, microcytic anemia Punctate basophilic stippling of RBC's Saturnine Gout

Lead Toxicity

Lead toxicity in children

Central neurologic symptoms due to high intestinal absorption

Cerebral Palay Blindness Mental Retardation Methylmercury exposure in utero

Minamata Disease

Increases CNS toxicity of Mercury

Increased lipophilicity (metallic or organic forms)

Pathophysiology: Itai-itai Disease

Osteoporosis, osteomalacia, and renal disease in Cadmium toxicity

Measure of passive smoking

Cotinine

Most commonly abused substance

Alcohol

Microcephaly Growth Retardation Facial abnormalities Reduced mental function

Fetal Alcohol Syndrome

Most common thermal injury

Thermal Burns

``` Hyperthermia Generalized Vasodilation Hyperkalemia Arrhythmia Rhabdomyolisis ```

Heat Stroke

Flag Sign (Hair) "Flaky Paint" Skin CNS Involvement Intact SC Fat

Kwashiorkor Syndrome

Small opaque placques of keratin debris (Bitot Spots) | Nyctalopia

Vitamin A Deficiency

Nutritional imbalance causing Pseudotumor cerebri

Vitamin A Excess

Craniotabes Frontal Bossing Pectum Carinatum Rachitic Rosary (Cartilagenous overgrowth at costochondral junction)

Rickets

Vitamin D deficiency increases the risk of developing the followng malignancies:

Colon, Prostate, and Breast

Essential enzyme in Vitamin C synthesis

L-gulonolactone oxidase

Dementia Dermatitis Diarrhea

Pellagra

Pathophysiology: Keshan Disease

Cardiomyopathy associated with selenium deficiency and Coxsackie Virus infection

Anorexigenic Compounds | Inreased POMC/CART activity

Leptin PYY Amylin

Orexigenic Compounds

NPY AgRP Ghrelin

Obstructive Sleep Apnea Polycythemia Cor Pulmonale

Pickwickian Syndrome | Obesity Hypoventilation Syndrome

Pathologically related congenital anomalies caused by MULTIPLE initiating defects

Malformation Syndrome

Primary error of morphogenesis

Malformation

Secondary DESTRUCTION of a normally developed organ

Disruption

Secondary DEFORMATION of a normally developed organ

Deformation

Constellation of anomalies caused by a SINGLE initiating abberation

Sequence

Potter Sequence

Oligohydramnios

Drug that interferes with HOX Gene expression

Valproic Acid

In maternal diabetes, inhibits development of Type II pneumocytes

Insulin

Pathophysiology: Retinopathy of Prematurity

Hyperoxia causes vasoconstriction; subsequent hypoxia increases VEGF synthesis

Striking distance in alveolar septation; Impairment of lung development at saccular stage

Bronchopulmonary Dysplasia

Pneumatosis intestinalis Loss of GIT mucosal integrity Mediated by PAF

Necrotizing enterocolitis

Anasarca Erythroblastosis Fetalis Extramedullary hematopoiesis

Hydrops Fetalis

Pathophysiology: Cystic Fibrosis

CFTR Gene Mutation, Ch7q31.2 Failure of Chloride influx (Sweat Glands, Pancreas) or efflux (GI and Pulmonary Epithelium)

Sine qua non (Salty sweat) Meconium ileus Congenital bilateral absence of vas deferens Sweat glands morphologically unremarkable

Cystic Fibrosis

Triple Risk Model | Sudden Infant Death Syndrome

1. Vulnerable Infant 2. Critical developmental period in homeostatic control 3. Exogenous Stressor

Only safe sleeping position

Supine

Most common tumor of infancy

Hemangioma

Most common teratoma of childhood

Sacrococcygeal Teratoma

Most common extracranial solid tumor of childhood

Neuroblastoma

Most commonly diagnosed tumor of infancy

Neuroblastoma

Homer-Wright Pseudorosettes

Neuroblastoma Tumor cells surrounding a neutrophil-rich central space

Indicators of improved prognosis in Neuroblastoma

Age (< 18 months) | Stage (1, 2A, 2B, 4S)

Maturation of Neuroblastoma

Ganglioneuroblastoma | Ganglioneuroma (with Schwannian Stroma)

Most common renal tumor of childhood

Wilms Tumor

Pathophysiology: WAGR Syndrome

WT1 Gene Wilms Tumor Aniridia Genital Anomalies Mental Retardation

Pahophysiology: Denys-Drash Syndrome

WT1 Gene Wilms Tumor Nephropaty Gonadoblastoma

Pathophysiology: Beckwidth-Weidemann Syndrome

WT2 Gene ``` Organomegaly Macroglossia Omphalocoele Hemihypertrophy Adrenal Cytomegaly ```

Triphasic Tumor (Wilms)

1. Blastema 2. Stromal 3. Epithelial

Key initiating event in essential hypertension

Reduced renal sodium excrtion

Pathophysiology: Liddle Syndrome

Gain-of-function mutation of ENaC channels in cortical collectng ducts

Hyperplastic Arteriosclerosis

"Onion-skin" Lesions Smooth muscle cells with reduplicated BM Necrotizing Arteriolitis Seen in Malignant Hypertension

Vascular pathology in Essential Hypertension

Hyaline Arteriosclerosis

Calcifications of internal elastic membrane of muscular arteries without luminal narrowing

Monckeberg Medical Calcific Sclerosis

Morphology: Fatty Streak

Lipid-laden Macrophages

Morphology: Atheromatous Plaque

Fibrous Cap and Lipid Core

Level of occlusion at which tissue ischemia starts

Critical Stenosis

High-intensity Statin Benefit Groups

1. Clinical ASCVD 2. LDL >190 mg/dL 3. T2DM PLUS 40-75 years, LDL 70-189 mg/dL, (-)ASCVD 4. 10 year risk > 7.5% PLUS 40-75 years, LDL 70-189 mg/dL, (-)ASCVD

Hallmark of vascular wall weakening

Cystic Medial Degeneration

Indication for aggressive management of AAA

> 5 cm

True or False? AD classified as Stanford A are more lethal than those classified as Stanford B.

True.

Pain along course of Superior Temporal Artery Headache Type 4 HSR Most common vasculitis among older individuals

Giant Cell Arteritis

Occular disturbances "Pulseless Disease" Involves branches of the Aorta Type 4 HSR

Takayasu Arteritis

Visceral Ischemia Hypertension No pulmonary involvement Prominent fibroid necrosis of medium-sized vessels with temporal heterogeniety Type 3 HSR, associated wth HBV infection

Polyarteritis Nodosa

Fever Conjunctival Injection Polymorphous exanthem Less prominent fibrinoid necrosis of medium-sized vessels, with temporal heterogeniety Type 3 HSr Important cause of MI in children

Kawasaki Disease

Hemoptysis Hematuria Proteinuria Temporally homogenous fibrinoid necrosis of small vessels; (+) Leukocytoclasia P-ANCA

Microscopic Polyangitis

Palpable purpura GI Bleed FSGS Necrotizing granulomas and eosinophils with fibrinoid necrosis of small vessels p-ANCA Associated with IgE mediated conditions

Churg-Strauss Syndrome

Persistent pneumonitis with bilateral nodular and cavitary infiltrates Chronic Sinusitis Nasopharyngeal Ulcers Renal Disease Prominent pulmonary involvement c-ANCA Crescentic GN

Granulomatosis with Angiitis | Wegener Granulomatosis

Oral aphtuous ulcers Genital ulcers Uveitis Neutrophilic infiltration of small- and medium-sized vessels

Behcet Syndrome

Raynaud Phenomenon Intermittent and Instep Claudication Superficial nodular thrombophlebitis Thrombosis with microabscesses in small- to medium-sized vssels in the extremities Smokers

Thromboangitis Obliterans | Buerger Disease

Cardiac Raynaud

Coronary vessel vasospasm

Pathophysiology: Trosseau Syndrome

Migratory surface thrombophlebitis in cancer patients

Pathophysiology: Milroy Disease

Familial primary lymphedema

Most common cause of lymphangitis

Streptococcus pyogenes

Dilated cutaneous blood vessels that regress spontaneously Most common form of vascular ecthasia

Nevus Flammeus | Birthmark

Nevus Flammeus distributed along course of Trigeminal Nerve

Port-wine Stain

``` Port-wine Nevi Mental Retardation Seizures Hemiplegia Ipsilateral venous angiomas in cortical leptomeninges ```

Sturge-Weber Syndrome

Blanching, radial, pulsatile subcutaneous arteries about a central core

Spider Telangiectasia

Pathophysiology: Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia)

TGF-Beta Abnormality

Cavernous hemangiomas involvng the ceebellum, brainstem, retina, pamcreas, and liver

Von Hippel-Lindau Disease

Juvenile-type hemangioma | Spontaneously regresses by age 7

Strawberry Hemangioma

Red, pedunculated lesions on the skin, gingiva, and oral mucosa in pregnancy

Granuloma Gravidarum | Type of Capillary Hemangioma

Painful tumors arising from modified smooth muscle cells Commonly found in the distal digits

Glomus Tumor

Vascular proliferation secondary to Bartonella infection

Bacillary Angiomatosis

Vascular neoplasm secondary to HHV-8 infection AIDS-defining lesion (Epidemic Type)

Kaposi Sarcoma

Immunostains used for Angiosarcomas

CD31 | vWF

Pathology (Sections 1-10) Flashcards

(239 cards)