Study Guide
20 topics · All lecture content · Searchable · Mapped to June 4 & June 18, 2026 exams
Apoptosis vs Necrosis
Programmed vs accidental cell death. ATP-dependent apoptosis (intrinsic/extrinsic) vs ATP-deplete necrosis with inflammation.
Acute Inflammation
Vascular + cellular response: vasodilation, increased permeability, neutrophil recruitment. Cardinal signs: rubor, calor, tumor, dolor, functio laesa.
Chronic Inflammation & Macrophages
Macrophage-dominated; M1 (pro-inflammatory) vs M2 (repair). Granulomas in TB, sarcoidosis.
Oncogenes & Proto-oncogenes
RAS, MYC, ABL, ERBB2. Activation by point mutation, amplification, or translocation. Gain-of-function.
Tumor Suppressor Genes
TP53, RB, APC, PTEN, BRCA1/2. Knudson two-hit hypothesis. Loss-of-function.
PTEN Barrier & Immunotherapy Resistance
PTEN loss → PI3K/AKT activation, immune escape, exclusion of T cells from tumor bed.
The Metastatic Cascade
Invasion → intravasation → arrest → extravasation → colonization. Roles of EMT, MMPs, integrins.
Cellular Crossroads
Homeostasis → adaptation → reversible injury → irreversible injury → cell death OR neoplastic transformation.
The Genetic Roadmap
From DNA to phenotype: transcription, translation, post-translational modification, and the central dogma's failure modes.
Architecture of Genetic Medicine
Diagnostic workflow: cytogenetics, FISH, karyotyping, NGS, microarray, MLPA.
Architecture of Heredity
Mendelian patterns, penetrance, expressivity, pleiotropy, anticipation.
Inheritance Patterns & Key Disorders
AD (Marfan, HD, NF1), AR (CF, thalassemia, sickle cell), XLR (DMD, hemophilia), XLD.
Chromosomal Disorders & Aneuploidy
Trisomy 21, 18, 13. Turner (45,X), Klinefelter (47,XXY). Deletion syndromes (Cri-du-chat, DiGeorge).
Imprinting, Dynamic Mutations & Mitochondrial Inheritance
Prader-Willi / Angelman; Fragile X CGG repeats; MELAS, LHON.
Diabetes Mellitus
T1DM autoimmune β-cell destruction; T2DM insulin resistance; complications: micro/macroangiopathy, AGE products.
Cellular Adaptations
Hypertrophy, hyperplasia, atrophy, metaplasia. Reversible responses to stress.
Exosomes & Extracellular Vesicles
Cell-cell communication; tumor exosomes preparing the metastatic niche.
Hormone-Dependent Malignancies
Breast (ER+), prostate (AR), endometrial. Targeted endocrine therapy: tamoxifen, AI, GnRH agonists.
Endocrine Pathophysiology
Thyroid (Graves, Hashimoto), adrenal (Cushing, Addison), pituitary adenomas.
Anemia & Hematology
Microcytic (IDA, thalassemia), macrocytic (B12, folate), hemolytic. Leukemias: AML, ALL, CML, CLL.