A Ca++ Channel

Immune response = TRPV2 protein*cytosis + TRPV2 gene

Motivation

Hippocampus -> Fornix -> Septal
Striatum -> Thalamus -> Mammillary
Cingulate -> Hypothalamus -> Pituitary

Sickle Cell Disease (SCD)

Hemoglobin
2 Mutant Beta-Globulins (2 Wild Type Alpha-Gb)
11q6 SNP A to T; glutamate to valine

Alpha-1 Anti-Atrypsin Deficiency (A1AT)

Lungs/Liver/Etc.
Uninhibited Tissue Breakdown
14q32.1

Colon Adenocarcinoma

Colon
Polyp [ACP] -> Large [K-ras] -> Malignant [p53/DCC]
Chronic Inflammatory Stress

HNPCC

Colon, Extra-intestinal, Etc.
DNA Mismatch Repair Gene
3p21:MLH1, 2p.21:MSH2, MSH6

Hydrocephalus Ex Vacuo

Cerebrum
Atrophy -> Non-Pressure Communicating H'dro
Alzheimers, Etc.

Carpel Tunnel Syndrome

Carpal bones -[Transverse Carpal Ligament]- Flexor Retinaculum
Median Nerve Compression
Joint (Movement, Arthritis), Deposits (Dialysis, Amyloid), Edema

Acute Lymphoblastic Leukemia

Mediastinum (Thymus)
Pre-B Cells: CD 2-10+, CD 19-20+/SVC Obstruction
cryptic t(12,21), etc.

Huntington's Disease (HD)

GABAnergic Striatal Neurons
Dementia + Choreaform movements + Lat.Ventricular Dilation
4p16.3 = Huntingtin (HTT) gene: -(CAG)- repeats

Romano-Ward Syndrome

Myocarium
K+ Channels -> Q-T length
ANK2, KCN(E1, E2, H2 Q1), SCN5A AD Gene Mutations

Amyotrophic Lateral Sclerosis (ALS)

Anterior Horn + Corticospinal Tracts
LMN + UML -> Denervation Atrophy (Amyotrophy)
SOC1 Gene: Codes for Copper-Zinc Superoxide Dismutase

Hodgkins Disease

Lymph Nodes
B-cell -> B-symptoms -> Reed-Sternberg Cells
Somatic Mutation -> loss of NF-kB inhibition

Duchene Muscular Dystrophy

Muscle
Proximal Atrophy, Compensatory Distal Pseudohypertophy
Xp21 = Dystrophin gene mutation

Pituitary Adenoma

Adenohypophysis
Inhibition of H<-P->O axis
???

Burkitt's lymphoma

Jaw/Abdomen
C-MYC t(8,14) + Immortalization
EBV

Dermititis Herpetiformis/Celiac Disease

Skin/Duodenam
IgA + Neutrophils + Fibrin
HLA-DQ2/DQ8 + Gluten Diet (Wheat, Rye, Barley)

Sydenham Chorea

Caudate/Subthalamic Nuclei
Anti-neural antibody
Autoimmune/Beta-hemolytic Strep

Hereditary Breast/Ovarian Cancer

Tubules/Glands
DNA Repair -> Adenocarcinoma
BRCA1/BRCA2

Gastric (Upper GIT*) Metastasis

L+ Supraclavicular, Umbilicus, Ovary
Virchow's, Sr. Mary Joseph, Krukenburg tmr || CEA,CA19.9,CA125
H. pylori, etc.

Chron's Disease

Full GIT Length
Poor 'Phage Fx-> Chronic Infla -> Th17 -> NF-kB
CARD15, ATG16L1

Thyroid Cancer

Thyroid
Neoplasia
RET (Medullary-Est?), RAS (Follicular-And?), p53 (Anaplastic-Phr?)

Arnold Chiari Malformation I & II

Foramen Magnum
Small Posterior Fossa
I(Cbll Hernia), II(I+Pons+M'cele), III(II+Enc'cele), IV(III+ Cbll atrophy)

Lobar Pneumonia

Lobe
Congestion -> [Hepatization: Red -> Gray] -> Resolution
S. Pneumonea

Breast Cancer + Ovarian Cancer

Specialized "Glandular" Tissue (Breast, Ovary, Lymph Node)
Epidermal Growth Factor Receptor Family Over-expression
HER2/neu oncogene

Bronchiolitis Obliterans (BO)

Bronchioloes
Granulation Tissue Plugs
Chronic Graft Rejection, etc.

Epidural Hematoma

Sub-periosteal
Fracture + Laceration of MMA
A-D Injury

Cystinuria

Renal Tubules/Intestinal Lumen
Dibasic (++) a.a's (COAL)Trans/Hexagonal Cystine Crystals
SLC3A1/SLC7A9

Plasma Cell Myeloma/Multiple Myeloma (MM)

B-Plasma Cells
IL-6 -> RANK-L -> Amyloidosis + CRAB
t(4,14), t(14,16): 14q32=Ig -> oncogene e.g. 16

Ankylosing Spondylitis

Sacroiliac + Apophyseal jxt of spine, Costovertebral/Sternal jxt, etc.
Enthesopathies
HLA B27 (RF absent)

Guillain Barre Syndrome (Maladie de Charcot)

PNS Gangliosides (unlike CNS -> MS & ANS -> ALS)
Autoimmune Acute Demyelination
C. jejuni, Influenza vaccine* (o-i-m)

Diabetes Insipidus (DI)

Renal Collecting Ducts
Supraoptic+Paravent Nuclei (Central DI)/Nephrogenic ADH Resistance
Vaso [ADH+V1] & Tubular [ADH+(G-V2)+Aq2]

Vitamin E Deficiency

Neuronal/Retina/Erythrocyte Membranes
Oxidative Stress -> Spinocerebellar & Dorsal Column Tracts
Abetalipoproteinemia (Pancreatic insufficiency of CS -> ADE++K def.)

Waterhouse-Friderichsen Syndrome (WFS)

Adrenals
Hemorrhagic Meningococcal Septicemia
Caps (N.M, P.P., S.A., H.I) & CMV*/ C def./ Splenic (SCD) atrophy

Polycytic Kidney Disease (PCKD)

Collagen + Matrix
Hemorrhage: Polycystin-1 protein -> Cilial Proteins in Embryo
16/4: PKD1-2 autosomal dominant genes, etc.

Trigeminal Neuralgia (Tic Douloureux)

Face
Demyelination of CN. V
Posterior Cerebella Artery Occlussion

Primary Pulmonary Hypertension (PPH)

Pulmonary Artery Branches
Medial (SM) Hype of /Intimal (End) fibrosis/Luminal Stenosis
M apoptosis (-)/ I ?/ L ? ... No Adventicial prob-> vasovasora

Anti-Psychotics

Trad-D2/Pot+++/Expy+++, Tradi-D2/Pot+/Expy+, Atyp-D2/Potency+++
[Hal, Fluphenazine, Pimozide], [CPZ, Thioridazine], [CROQ)]
Agranulocytosis=Clon; ???=Risperidone: !!!=Olanzapine/Quetiapine

Body Fat Redistribution Syndrome (Dyslipidemia)

Hematological
Apolipoprotein B degredation (--)/Hepatic Uptake
19p13.1-13.3, LDL, [??? PI's]

Adrenal Insufficiency/Crisis

HPA-axis
ZG (-) <- ZF (---) -> ZR (++)
HPA event

Essential Tremor

Cerebellothalamocortical circuits
Lewy bodies in Purkinje cell
Familial & Heterogenous

Von Willebrand Disease

Hemopoietic
vWF
12p.13.2: vWF gene: autosomal dominant (1,2) or recessive (3)

Eisenmenger Syndrome

ASD/VSD/PDA
Conversion of L->R to R-> Shunt
Pulmonary Hypertension

HIV-1 Infection

Lymphopoetic
CD4+ Depletion
CCR5-D32, APOBEC3B

Hepatocellular Carcinoma

Hepatocyte
INF-3
IL28B gene, HBeAg, p53 G-to-T SNP, etc.

Subacute Combined Myelopathy

Dorsal Columns, Lateral Tracts & Peripheral Nerves
Position/Vibration, Spastic Paresis & Paraesthesia
Vitamin B12 Deficiency

Giant Cell (Temporal) Arteritis (Horton's Disease)*

Medium-Large Cranial Vessels
GCA coexists with Polymyalgia Rheumatica (PMR)
ER-alpha receptor upregulation e.g. in Menopause

Acute Rheumatic Carditis (Fever)

Myocardium (and Joints)
Aschoff's (plump m'phages)/Anitschow cells (slender chromatin)
Type-II HS: GpA Strep mimicry->APC->Th2->B-cell->

Polycytic Ovarian Syndrome (PCOS)

HPO Axis
Insulin resistance + Aromatase -> T + E -||-> HPO Axis
CYP19A1 (Aromatase) gene mutation + Adiposity

Bronchiolitis

Small Airways
Obstruction
Respiratory Synctial Virus (RSV) Replication

Paget's Disease (Osteitis Deformans)

Osteoclasts
18q22.1 RANK-L (& M-CSF)
Paramyxovirus

Achondroplasia

Epiphyseal Growth Plate
Short Appendicular Bones (Normal axial bones)
Fibroblast Growth Factor Receptor-3 Mutation

Pancoast Syndrome

Lung Apex (Superior Sulcus)
Extensive Local Spread
Cumulative DNA Changes

Central Neurofibromatosis

Cerebella-Pontine Angle
Bilateral Acoustic Neuromas; Merlin
22: NF-2 Autosomal Dominant Tumor suppressor

Diabetes Mellitus Type-I

Beta-Islets
Lymphocytic Infiltration
HLA-DQ/DR

Diabetes Mellitus Type-II

GLUT expressing cells
Insulin Resistance -> Islet Stress -> Insulin + Amylin (IAPP)
Systemic Adiposity +++

Goodpasture Syndrome

Glomerus/Alveoli
Anti-GBM IgG/C3 to Alpha-3 Chain of Collagen Type IV/Fibrin Deposits
Type II Hypersensitivity to Goodpasture's Ag/HLA-DR2

Syringomyelia (Syringohydromyelia)

Ventral White Commissure of Cervical Spine
Pain & Temperature Sensory Loss (not Proprioception & Vibration)
Syrinx (CSF in white matter) + Hydromyelia (CSF++ in Canal)

Petit Mal Seizure

Thalamic Neurones
Thalamo-cortical T-Type Ca++ Channels
Various Local Insults Restricted to Childhood

Prinzmetal's (Variant) Angina

Coronary Vessels (Associated with Migraine headache)
Nocturnal Spasms -> Temporary Transmural MI
Ergonovine (Diagnostic)

Chronic Constrictive Pericarditis

Pericardial Space
Thick Fibrous Shell Replacement
Tuberculous Caseous Pericarditis

Wolff-Parkinson-White Syndrome* (PSVT)

CVS
AV-conduction: PR-int short, +delta wave, ++QRS
Accessory Pathway

Normal Pressure Hydrocephalus (NPH)

Cerebrum
Diminished Arachnoid Villi
Atrophy

Friedreich Ataxia

Neural Tracts & Peripheral Nerves
Mitochondrial Function
9: Autosomal Recessive mutation for Frataxin gene

Tardive Dyskinesia

Perioral + Axis
Extrapyramidal Cells
Atypicals (Risperidone+++, Clozapine+)

MAO Tyramine Crisis

CVS (Hypertensive Cx)
MAO inhibitor (Bipolar Rx)
Tyramine (Cheese, Wine, Sausage)

Lyme's Disease (Borreliosis)

Bite -> Systemic -> {Varied+CNS}
Molecular Mimicry -> Autoimmunity -> {IL-6/TNF-alpha}
Borrelia Burgdorferi (Tick-borne)

Hyperestrinism

Reproductive Glands
Liver Failure
Hepatitis (e.g. Viral, Alcoholic, etc.)

Chronic Myeloid Leukemia

B-Lymphocytes
bcr-abl fusion protein
t(9,22) = Philadelphia Chromosome

Paroxysmal Nocturnal Hemoglobinuria

Complement (C3-convertase & C9-MAC)
CD55 & CD59 Deficiency
X-linked Phosphatidyl Inositol Glycol A (PIGA) gene polymorphism

Liver Injury*

Serum Albumin + Prothrombin Time*
AST + ALT
Alcohol or Hep-(A,B,C)-Virus

Emphysema

Alveoli
Alpha-1 Anti-trypsin [Functional or Actual] Deficiency
Toxins (e.g. Cigarette) or PiSS, PiMZ or PiSZ Phenotypes

Carcinoid Syndrome

Neuroendocrine
Serotonine (5-HT), et al. Vasoactive substances (e.g. Kallikrein)
Tumors expressing Somatostatin receptors

Colorectal Carcinoma

Colonic Mucosa
Adenoma-to-Carcinoma
APC gene mutation

Hashimoto's Thyroiditis

Thryoid Parenchyma
Antithryoid Peroxidase
HLA

Wegener's Granulomatosis

Vascular (small/medium)
c-ANCA's -> Neutrophil Proteinase 3
HLA

Esophageal Adenocarcinoma

Esophagus
Barret Esophagus
GERD

Pemphigus Vulgaris

Desmogleins (3,1)
Autoantibodies
HLA

Scleroderma

Systemic
TGF-beta receptor over-expression
TGF-b1 & COL1A2 polymorphisms

CREST Syndrome

Localized
Anti-Centromere/Anti DNA Topoisomerase (Scl-70)
HLA

Infectious Mononucleosis (IM, Mono)

Nasopharynx/Lymphoreticular
Gen Lymphadenopathy // Lymphoma/Nasopharyngeal Carcinoma
EBV (ddx & dx: CMV)

Multiple Sclerosis (MS)

PNS
IgG in CSF
HLA type

Tetanus

Muscular
Inhibition of Glycine & GABA
Tetanospasmin (Exotoxin of C.tetani)

Ecthyma Gangrenosum

Skin
Vascular Necrosis
Pseudomonas Aeruginosa exotoxin

Leucocyte Adhesion Deficiency

Skin
Integrin Deficiency
Autosomal Recessive Absence of CD18 Ag

Rheumatoid Arthritis

Joints
IgM (RF) -> Fc of IgG
Autoimmune

Systemic Lupus Erythematosus (SLE)

Vascular
Immune Complex Depositions
Anti-dsDNA

Henoch-Schonlein Purpura (HSP)

Systemic Leukocytoclastic Vasculitis
IgA-containing Immune Complexes
Proteolysis Resistance IgA1 molecule

Huntington's Disease

CNS
Histone methylation
Autosomal Dominant HD-gene

Mitochondrial Encephalopathy (MELAS)

CNS
Neuronal damage
mtDNA mutation