ETIOLOGY OF DISEASES PART 1

POINT MUTATION

Changes in a single nucleotide base within a gene

FRAMESHIFT MUTATION

Insertion or deletion of one or more nucleotides bases shifts the reading frame of the DNA strand.

TRINUCLEOTIDE REPEAT DISORDER

DNA replication disorders

MANDELIAN DISORDERS

Single gene mutations that produce large effects. Familial or new mutations.

AUTOSOMAL RECESSIVE

AUTOSOMAL DOMINANT

X-LINKED RECESSIVE

X-LINKED DOMINANT

4 BASIC GENE MUTATION DISORDERS

46 CHROMOSOMES

Most human cells are diploid (___ chromosomes)

22 AND 1

__ autosomes pair + __ sex chrosomosome pair

23 HAPLOID CHROMOSOMES

GAMETES (MEIOSIS)

CHROMOSOMAL ALTERATIONS

Numeric or structual abnormalities or autosome or chromosomes

TRISOMY 21

DOWN SYNDROME

TRISOMY 18

EDWARD SYNDROME

TRISOMY 13

PATAU SYNDROME

45 X

TURNER SYNDROME

MOST COMMON SEX ABNORMALITY IN FEMALES.

47 XXY

KLINEFELTER SYNDROME

EDAMA AND EFFUSIONS

Disorders that petrub cardiovascular. renal or hepatic function are often marked by he accumulation of fluid in tissues (edema) or body cavities (effusions)

EDEMA AND EFFUSIONS

Increase hydrostatic pressure due to impaired venous return.

Reduced plasma oncotic pressure (inadequate synthesis / loss of albumin)

Sodium and water retention

HYPEREMIA

active process of arteriolar dilation → increase blood flow

CONGESTION

passive process resulting from reduced outflow of blood from a tissue

HEMORRHAGIC DISORDER

Disorders associated with abnormal bleeding inevitably stem from primary or secondary defect in: blood vessels, platelets, coagulation factor

HYPERCOAGULABILITY

AKA Thrombophilia.

Can be loosely defined as any disorder of the blood that predisposes to thrombosis.

THROMBUS

VENOUS THROMBOSIS AND ARTERIAL THROMBOSIS

EMBOLUS

Detached intravascular solid, liquid, or gaseous material that is carried by the blood from its point or origin to a distant site and causes tissue infarction.

INFARCTION

Ischemic necrosis caused by occlusion of either artrial supply or venous drainage. CAUSE BY THROMBOSIS OR EMBOLISM

SHOCK

State in which diminished cardiac output or reduced effective circulating blood volume impairs tissue perfusion and leads to cellular hypoxia.

PRIMARY MALNUTRITION

One or all components (vitamins/minerals/carbohydrates/fats/proteins) are missing from the diet

SECONDARY MALNUTRITION

From malabsorption, impaired utilization or storage, excess loss, or increased need for nutrients.

MARASMUS

loss of muscle mass as a result of catabolism. severely lacking in calories

KWASHIORKOR

Protein deprivation is relatively greater than the reduction in total calories.

CACHEXIA

Secondary malnutrition is a common complication. In patients with AIDS or advanced cancers.

OBESITY

BMI > 30 kg/m

ANOREXIA NERVOSA

Self-induced starvation, resulting in marked weight loss.

VITAMIN A DEFICIENCY

Impaired night vision, blindness, follicular hyperkeratosis, growth retardation.

VITAMIN D DEFICIENCY

Rickets (children, osteomalacia (adult)

VITAMIN E DEFICIENCY

Hemolytic anemia, ataxia, poor joint coordination and ataxia

VITAMIN K DEFICIENCY

Hemorrhagic disease, GI bleeding and ecchymoses