Pathophysiology and Genetics Flashcards

Flashcards for reviewing Pathophysiology and Genetics concepts.

Heterozygous (Tt) 1 bad and 1 good allele

Having one recessive and one dominant allele

Homozygous (TT) 2 bad allele

Having two identical alleles, either both dominant or both recessive

Autosomal Recessive Inheritance

Both parents must pass the allele for the disorder (e.g., cystic fibrosis, PKU, Tay-Sachs) (child is then a carrier)

Autosomal Dominant Inheritance

Only one parent needs to carry the allele to pass it to the children. (e.g., Adult polycystic kidney disease, Huntington disease, Marfan syndrome)

TNM staging system

Stage 1: tumor, no node development, no metastasis

Stage 2: nodes involved, mobile or fixed

Stage 3: nodes involved, fixed. No metastasis

Stage 4: metastasis, always stage 4 if involved

Diagnostic Genetic Testing

Used to confirm a diagnosis based on physical signs and symptoms

Predictive Genetic Testing

Used by people with a family history of a genetic disorder, like Huntington's disease, to predict risk

Carrier Genetic Testing

Used by people with a family history of recessive genetic disorders, like sickle cell anemia, to identify carriers

Prenatal Genetic Testing

Used to test a fetus when there is a risk of bearing a child with mental or physical disabilities

Newborn Screening

Used as a preventative health measure once the baby is born (e.g., Phenylketonuria (PKU) testing)

Pre-implantation Genetic Testing

Used to genetically manipulate the outcome of a possible implanted embryo

Forensic Genetic Testing

Used to identify an individual for legal purposes

Research Genetic Testing

Used for finding unknown genes and identifying the function of a gene

Leukopenia

Lowered white blood cell level

Thrombocytopenia

Lowered platelet level

Anemia

Lowered red blood cell level

Tumor grading

Grade 1: well differentiated

Grade 2: moderately differentiated

Grade 3: poorly differentiated

Grade 4: undifferentiated

Where cancer likes to spread

Breast to bone

Colon to liver

Lung to brain

Direct Invasion

Cancer cells directly invade nearby tissues by pushing on normal cells and structures

Bloodstream Spread

Cancer cells enter the bloodstream and travel to different organs

Lymphatic System Spread

Cancer cells spread through lymph vessels and nodes to other body parts

Angiogenesis

Tumors stimulate the growth of new blood vessels for nutrients to spread

Local Clinical Manifestations of Cancer

Lumps/growth, pain, depends on the location of the cancer, cough

Systemic Clinical Manifestations of Cancer

Fatigue, weight loss, fever, night sweats, nausea/vomiting, bruising or bleeding, neurological changes

Chromosomal Disorder

Happens during meiosis (e.g., Down syndrome, Turner syndrome, Klinefelter syndrome)

Developmental Disorder

Due to drugs, chemicals, or radiation during child-bearing years

Multifactorial Disorder

Genetic influences combined with environmental factors (e.g., cleft palate, congenital heart disease, Type 2 diabetes)

Oncogenes

Mutations that can promote uncontrolled cell growth and division

Tumor Suppressor Genes

Mutations that inactivate tumor suppressor genes, allowing cells to proliferate abnormally

DNA Repair Genes

Mutations that can lead to the accumulation of further genetic errors, increasing the risk of cancer development

Proto-oncogene

Cancer can arise when mutated causing the cell to divide and multiply uncontrollably

Carcinogen

Anything that causes cancer (damages DNA and mutates genes)

Malignant Tumor Characteristics

Rapidly growing, invasive/destructive, metastasizes, lacks a form, disorganized constitution

Metastasis

Breaks away from the cancer and spreads through the lymphatics or blood vessels

Benign Tumor Characteristics

Localized and non-destructive, encapsulated, differentiated and can still be life-threatening, grows slower