Chronic Conditons 2.1 Flashcards
What is the definition of marfans syndrome?
A genetic disorder of connective tissues caused by mutations which result in weakened connective tissue
What are the key features of marfans?
Hyper mobility and hyper flexibility of joints, vessels, and organs due to weakened connective tissues
Marfans cause life threatening concerns to the Cardiovascular system. These concerns are…
- weakening of the medial layer of blood vessels
- valve dysfunction (regurgiation)
- hemolysis
- increased ESV causing heart failure
What is arachnodactyly?
Long spider like fingers in marfans
What is steinberg sign and walker-bernoff sign?
S ; thumb tip extends past the palm
W; thumb and fifth finger overlap when wrapped around the wrist
What causes cystic fibrosis?
It is caused by a defect in a chloride ion membrane transporter in epithelial cells which results in thick glandular secretions
Cystic fibrosis causes damage to…
The lungs and pancreatic ducts
What are the symptoms of cystic fibrosis? (Think about the organs it effects)
- SOB
- impaired digestion and nutrient absorption
What is spina bifida?
A developmental neural tube defect due to the posterior neural tube failing to close
Spina bifida is associated with low levels of _____ prior to conception
Folate
Types of spina bifida ; spina bifida occulta
Mildest form identified by a small patch of hair, mole, or birthmark over the defect
Types of spina bifida; meningocele
Posterior opening with meninges protruding
Types of spina bifida ; myelomeningocele
Meninges and spina cord protrude through defect
What is Arnold chiari malformation
The cerebral tonsils extend through the foremen magnum
What are the concerns for Arnold-chiari malformation
It can cause compression of vessels and cerebrospinal fluid pathways leading to obstruction or limited fluid drainage
What is neoplasia?
A new tisssue growth that is
- unregulated
- irreversible
- monoclonal
What’s the difference between hyperplasia and neoplasia
Hyperplasia is when the cells increase in number due to an a adaptive and reversible response but neoplasia is uncontrollable and irreversible growth
Apoptosis is triggered by…
- immune signals (T cells)
- pathogen presence
- cellular injury
What are nonspecific/late onset symptoms of pancreatic cancer?
- jaundice
- weight loss
- abdo pain
What is dysplasia?
A precancerous change in cells that predisposes to cancers
Barretts esophagus
Dysplasia caused by chronic GERD witch increases the risk of esophageal cancer
How can pancreatic stones lead to dysplasia?
Stones cause enzyme stasis which causes inflamation which causes dysplasia
What is the definition of oncogenic factors?
Refers to substances, viruses, or mechanisms that cause or promote cancer
What type of cancers can Epstein Barr virus cause?
- nasopharyngeal cancer
- central nervous system lymphoma
What cancers are associated with HPV
- cervical cancer
- vulvar
- vaginal
- anal
- and penile cancer
How does ionizing radiation cause damage to the body?
It creates hydroxyl free radicals which causes DNA damage leading to mutations
Which cancers have the highest incidence rates due to UV light ray from sunlight
Skin cancers such as
- basal cell carcinoma
- squamous cell carcinoma
- melanoma
What are proto-oncogenes
Genes essential for normal cell growth, differentiation, and repair
What is the function of proto-oncogenes?
Ensure proper communication and controlled growth
What are oncogenes?
Mutated proto-oncogenes that lead to uncontrolled growth
How do tumour suppressor genes prevent tumor formation
By monitoring cell cycles and detecting mutation and initiating corrective actions/apoptosis
