Genetic Diseases

Huntington’s disease

Autosomal dominant

Adult-onset movement disorder, cognitive/behavior due to degeneration of neurons in basal ganglia. Adult onset most common, but early onset possible.

Huntington protein disrupted by trinucleotide repeats

Prader-Willi syndrome

Paternal

Disruption of genes on chromosome 15 from father causes overeating, hypotonia, low IQ, short stature, and hypogonadism.

Wilson disease

Autosomal recessive

Copper excretion is impaired

Copper accumulates in liver and other organs.

Kayser-Fleisher rings in eyes

Turner syndrome

45,XO karyotype

May result in spontaneous abortion

Variations in disease severity

Lack of breast development and amenorrhea at puberty

Down syndrome

Trisomy 21 (Karyotype has extra 21st chromosome)

Most common chromosomal disorder

80% have IQ of 25 to 50

Wide variation of severity

Gaucher disease

Autosomal recessive

Most common lysosomal storage disease

Accumulation of glucocerebrosides in macrophages and CNS

Cystic Fibrosis (CF)

Autosomal recessive

Most common lethal, inherited disease in Caucasians

Disrupts lung function with thick mucus
Pancreatic secretions (malabsorption of nutrients)

Ehlers-Danlos Syndrome

Both primarily autosomal dominant (& some types recessive)

Abnormal collagen tissue protein

Hypermobility of joints

Skin hyper elasticity

Mitral valve prolapse (MVP)

Marfan’s Syndrome

Autosomal dominant

Connective tissue disorder - tall lanky

Fibrillin-1 (FBN-1) gene mutation

Elongated arms and fingers. Heart murmur, pneumothorax, aortic dissection

Familial hypercholesterolemia

Autosomal dominant

Lack of LDL receptors

Elevated cholesterol

Atherosclerosis

A Complete Blood Count (CBC) with Differential identifies

the predominant white blood cells (WBCs) in response to infection, aiding in determining inflammation etiology.

C-reactive protein (CRP) elevation indicates

active inflammation, with high sensitivity CRP marking increased myocardial infarction risk in coronary artery disease patients.

ESR stands for? What does elevated ESR indicate?

Erythrocyte sedimentation rate.

Elevated ESR indicates inflammation.

Fibrinogen binds to RBCs and fixes them into stacks that precipitate rapidly in the blood through processes called rouleaux and sedimentation.

High Hepcidin levels causes….

Low Iron & Anemia - Hepcidin destroys ferroportin which in turn slows iron absorption from intestine and also blocks iron from being released in body… lower serum iron levels slows erythopoeisis (RBC production)

high WBC count with 90% neutrophils suggests

acute bacterial infection

high WBC count with 90% lymphocytes suggests

acute viral infection

Prolonged secretion of serum amyloid A causes

a condition called amyloidosis, which indicates chronic inflammation and alerts the clinician that the patient has endured a long-term inflammatory process.

Microtubules

• Centrioles and miotic spindle (cell division)

• Transporting secretory vesicles from ER to cell perimeter (ER to Golgi, Golgi to cell perimeter)

• Cilia contain microtubules

(hollow tubes made of tubulin)

Microfilaments

• Microfilaments are for muscle contractions and amoeboid movements of macrophages

(solid flexible fibers)

1st phase of acute inflammation

Vascular phase - Initial vasoconstriction followed by increased vascular permeability.

2nd phase of acute inflammation

Cellular phase - WBCs are attracted to the injury site.

Epidemiology

Study of diease distributions (and patterns and causes)

Incidence

number of NEW cases

Prevalence

number of ACTIVE ONGOING cases

Endemic

Incidence and prevalence are stable

Epidemic

Epidemic is abrupt increase in incidence in a community/geographical region

(Pandemic is worldwide)

Rickettsia causes what?

RMSF & Typhus

Borrelia burgdorferi causes what?

Lyme Disease

Stricture

An abnormal narrowing of a passage from the formation of scar tissue

Staphylococcus aureus

Skin and wound infections

impetigo (a common, highly contagious superficial bacterial skin infection)

pneumonia (an infection that inflames the air sacs (alveoli) in one or both lungs, causing them to fill with fluid or pus

septicemia (systemic infecrtion, “blood poisioning”)

Streptococcus pyogenes or group A beta-hemolytic Streptococcus (GABHS)

Pharyngitis (strep throat)

impetigo (a common, highly contagious superficial bacterial skin infection)

upper respiratory tract infection

rheumatic fever

scarlet fever

glomerulonephritis

Streptococcus pneumoniae

CAP

Pneumococcal pneumonia is a type of CAP

more than 50% of Bacterial meningitis cases

Haemophilus influenzae

Meningitis

Upper and lower respiratory tract infection

COUGH PER TEACHER

Clostridium difficile (C.diff) causes what disease?

Pseudomembranous colitis

Bacterial Meningitis is caused by what two most common bacteria?

• Neisseria meningitidis

• Haemophilus influenzae