Lecture Notes Flashcards

Flashcards of vocabulary terms and definitions.

Genetics

The study of disease and heredity.

Genomics

Molecular bio branch concerned with structure, function, evolution, and mapping of genomes.

Epigenetics

Study of how behavior and environment can change how genes work; these changes can be reversible and don’t change DNA sequence but can change how your body reads a DNA sequence

Congenital disorders

Usually develop prenatally and are apparent at, or shortly after, birth.

Marfan Syndrome

Autosomal dominant disorder impacting the connective tissue. Heterozygous mutation in fibrillin-1 (FBN1). Wide variability in phenotype: ocular, MS, CV. Microfibril function impacts strength and flexibility

Phenylketonuria (PKU)

Without phenylalanine hydroxylase there is a phenylalanine build up and lack of tyrosine. Excess phenylalanine causes neuro issues such as developmental and intellectual disability, seizures, and more.

Tay-Sachs Disease

Autosomal Recessive Genetic Condition. A mutation on both alleles of a the HEXA gene located on chromosome 15q23. Lack of hexosaminidase A. Leads to Progressive neurodegenerative dysfunction. There are 3 forms: infantile, juvenile, and late adult onset.

Down Syndrome

Typically, a spontaneous chromosomal mutation causing 3 copies of chromosome 21. Diagnosed with karyotype. Phenotype varies widely. Manifestations can be detected in utero, at birth, or over the person’s lifetime and include Hypotonia, Characteristic facial features, Congenital heart defects, Simian crease, Brushfield’s spots, Varied cognitive and developmental delay, Behavioral issues.

Turner Syndrome

Typically, a spontaneous deletion of part or all of an X chromosome (XO). Only female offspring survive to term and have varied presentation that can be apparent at birth, and other features that manifest over time. Presentation includes: Reproductive dysfunction, Short stature, Lymphedema of hands and feet, Broad chest with widely spaced nipples , Low-set ears , Small lower jaw, Drooping eyelids, Increased weight.

Cellular Energy Sources

Carbohydrates, proteins, and fats. They are made into larger molecules OR They are stored for later use OR They are metabolized to produce ATP, which is used for energy

ATP

The source fuel for cell use and storage. It is required for transport of ions, muscle contraction, nerve impulse propagation, and more. ATP production requires metabolism of nutrients, and can occur with and without oxygen. There are 4 mechanisms for ATP production: Cellular respiration (citric acid cycle), Beta-oxidation, Ketosis, Fermentation.

Lactate/Lactic Acid

In anaerobic conditions, pyruvate is not converted to acetyl CoA; instead, it is changed into lactic acid. Lactic acid levels rise when there is an imbalance in production due to hypoxia, decreased perfusion, or a combination such as with Genetically linked metabolic disorders, Exercise , Refeeding syndrome. Decreased excretion such as with liver and/or renal dysfunction. Increased production and decreased perfusion such as with burns, sepsis, and septic shock

Cell Injury causes

Radiation, Chemicals, Biologic agents, Nutritional imbalances, Hypoxia/Ischemia, Genetics, Free radicals

TNM Staging

TNM staging is one of the main methods to describe cancers and their extent. Cancers of the brain, spinal cord, and blood generally use different staging methods. T (primary tumor) NX Cannot be measured, N (regional lymph nodes) NX Cannot be measured, M (Metastasis) MX Metastasis cannot be measured