Exam 1 Clinicals Flashcards
Prader-Willi/Angelman syndrome
-deletion of chromosome 15
if inherited from father= Prader-willi
if inherited from mother=angelman
Philadelphia translocation
chromsomes 9 & 22 swap places
-ABL1 gene on chromosome 9 gets connected to part of BCR (Breakpoint cluster region)
Lysosomal Storage Disease (LSD)
dysfunctional lysosomes
- most cases=defective protein such as hydrolytic enzyme or its cofactor
- results in buildup of products that normally get digested
- causes cell death
Tay-Sachs Disease
Missing enymze (B-hexosaminidase)
- splits off from a ganglioside
- causes accumulation of gangliosides
Most common LSD’s in children
Gaucher Disease
Hurler Syndrome (MPS I)
Hunter Syndrome (MPS II)
Pompe Disease
Primary Ciliary Dyskinesia (PCD)
- males are sterile due to immotile flagella
- females are still sterile, but miscarriages are more common
- symptoms of hydrocephalus internus (accumulation of fluid in brain)
- 50% of patients get situs inverses (major organs are reversed from norm positions)
Kartagener’s syndrome
absence of dynenin arms
- cant clear mucus
- malfunction of sperm tails
- dextrocardia (embryonic arrest & Situs inversus)
Youngs Syndrome
malformation of radial spokes of dynein arms
Hydrocephalus
accumulation of CSF in ventricles of brain
acute inflammation-immediate response of immune system due to tissue injury
Apoptosis
programmed cell death
Role of mitochondria?
Atrophy
decrease in size of cell
calcification
abnormal calcification of tissue
Chronic Inflammation
ongoing inflammatory process
-weeks to months
ALpha 1-Antitrypsin
caused bc low serum concentrations of alpha 1-antitrypsin
Amyloid
Abnormal Protein
- AL
- AA
- AB=Alzheimers
Steatosis, fatty change
accumulation of lipids
- seen in alcohol abuse
- hepatitis C, genetic predisposition, diabetes mellitus
Lewy body
intracytoplasmic oval with a halo
-seen in parkinson’s
Neurofibrillary tangles
tangles within neurons
-seen in Alzheimers
Granulomatous inflammation
characterized by epitheliiod histiocytes (collection of histiocytes termed granulomas)
-seen in mycobacterium tuberculosis, histoplasmosis capsulate
Hydropic change
early reversible cell injury
Karyorrhexis
pattern of nuclear change
-irreversilbly damaged cells
Metaplasia
Reversible change of one mature cell type to another
-bc of environmental stimulus
Monomorphism
cell populations that show little difference in size/shape of cell or nucleus itself
Multinucleation
cells with multiple nuclei
Pleomorphism
cell populations that show difference in size/shape of cell or nucleus
Pyknosis
morphological change in nucleus of an irreversibly changed cell
Scar, cicatrix
comes from complex healing process
-formation of new blood vessels, tissue remodeling, and wound contraction
Necrosis
death of living cells due to an irreversibly cell injury
Caseous necrosis
obliteration of underlying tissue architecture
-formation fo amorphous granular necrotic debris
Coagulative necrosis
preservation of cellular outlines
Fat necrosis
necrosis seen in adipose (fat) tissue
Liquefactive necrosis
seen after bacterial infection involving CNS
Effusion
excessive fluid in mesothelial lined cavity
Pleurisy
inflammation of pleura
Pemphigus vulgaris
supra basal acantholytic blister
- acantholytic keratinocytes
- IgG antibodies various desmogleins
Bullous pemphigoid
sub epidermal nonacantholytic blister
- eosinphil
- full-thickness epidermis w/intact intercellular junctions (key distinction)
Mesothelioma
cancer of mesothelium
- long slender and curved microvilli
- asbestos exposure or smokers
Malignant mesothelioma
Epitheloid malignant mesothelioma
- sarcomatid maligna mesothelioma
- Biphasic malignant mesothelioma
Barrett’s Esophagus
Complicatoin of chronic GERD
- goblet cells
- stratified squamous changes to simple columnar
Tracheal metaplasia
metaplastic squamous epithelium
Aterosclerosis
deposits of yellow plaque form (contain cholesterol, lipid material, & lipophages (Macrophages))
Hyperthyroidism
overproduction of thyroid hormone
Graves Disease
Most common form of hyperthyroidism
- antibodies in blood mimic thyroid stimulating hormone
- excessive thyroid hormone
Hypothyroidism
low levels of thyroid hormone secretion
Renal Fanconi syndrome
Impairment of proximal tubular function in kindye
- results from an abnormality in epithelial lining
- causes loss of substance that are excreted in urine that cause rickets (children) or osteomalacia (adults
Celiac Disease
disorder to small intestine
-cant eat food with gluten
Bronchitis
- acute/chronic inflammation of bronchial tubes
- leading cause is cig smoking
Salivary Gland swelling
swelling w/inflammation (disladenitis)
-saliva can’t exit mouth
Trachoma
Form of pink eye
-caused by bacteria chlamydia trachomatis
Parkinsons disease
Lewy bodies
- lewy neurites
- glosis (cells-astrocytes)
Alzheimer’s Disease
B-amyloid plaque
-neurofibrillary tanges
Depression
Low levels of serotonin, dopamine, norepinephrine
Treatment of Depression
SSRIs (selective serotonin reuptake inhibitor)
SNRIs (serotonin-norepinephrine reuptake inhibitor)
MAOIs (monoamine oxidase inhibitors)
-old school way
-rapidly degrades serotonin, dopamine, norepinephrine
-only gets used if first 2 treatments fail, not as effective, has mores ie effects
Huntington Chorea
Loss of GABA producing neurons
Fibrous Astrocytoma
Brain tumors
-account for 80% of adult primary brain tumors
Multiple Sclerosis
axon organelle acummulation
- axon cytoskeleton disruption
- cytoplasmic tongue swelling (cells-oligodendrocytes)
Guillain-Barre Syndrome
Myelin destruction
-majority of infiltrating cells are lymphocytes
Rabies infection
caused by rabies virus
- Negri Bodies
- perivascular cuff
- lymphocyte focus
- babes nodules (cells-glia)
Reuptake mechanism
5-HT reuptake receptors
-dendrites become more prevalent
Hirschsprung’s disease (HD)
aganglionosis
-absence of ganglia in wall of bowel
Hereditary Sensory motor neuropathy type III (HSMN III)
loss of myelination around neurons in PNS
-atoxic or scoliosis
Encephalocele
defect in calvarium as bone of skull is formed
-CSF, meninges, brain tissue may protrude
Glioblastoma
highly malignant tumor in brain
- arises from neoplastic astrocytes
- palisading
Neurogenerative disease
diseases characterized by progressive degeneration & death f nerve cells
EX: Alzheimers and Parkinsons
Demyelinated Disease
Decreased/lost transmission of electrical impulses along nerve fibers
Ex: Guillain-Barre and Multiple Sclerosis
Actinic Keratosis
solar elatosis
- degenerative skin condition from to much sun light
- loose, wrinkly, dry, sagging skin
Tendinosis
Degenerative disorder that occurs within substance of a tendon
-assoicated with age or overexertion
Whipple Disease
Multisystemic disease caused by infection of bacillus Tropheryma Whippleii
- primarily affects small intestine
- increased # of macrophages
Cirrhosis
liver disorder
- caused by chronic injury to hepatic parenchyma
- collapse of reticular LCT with increased collagen and elastic fibers
- causes portal hypertension (may lead to splenomegaly)
Collagenopathies
caused by deficit/abnormality in production of specific collagen
-most attracted to mutation is genes encoding alpha chains in collagen
Disorder of basement membranes are involve in several diseases
- Renal Function
- Cancer
- Genetic Diseases
- Autoimmune diseases (Goodpasture syndrome)
Ehler’s Danios Syndrome
Mutated Collagen
- hyperextensible skin
- hypermobile joints
Marfans Syndrome
Results from mutation in FBN1 gene encoding Fibrillin
- fragmented elastic tissue
- loose mucopolysaccharides
- Fibrosis
Fibrosis Process
excessive deposition of collagen
Pulmonary Fibrosis
connective tissue deposition
- occurs b/w 50-70 yr old typically
- more at risk if suffer from lung damage
Liver Cirrhosis
reticular fibrosis
- type 1 collagen disposition
- scar tissue build up=liver function worsens=eventually doesn’t work at all
- caused by alcoholism, fatty liver disease, hep B or C
Cardiac Fibrosis
over activation of fibrocytes=thickening of tricuspid valve and pulmonary valve
-compound in red wine can slow this called resveratrol
3 forms of fibrosis
- mild
- severe
- reticular
Osteogenesis imperfecta
mutation in genes from type 1 collagen (COL1A1 & COL1A2)
-brittle bone, resulting in extreme skeletal fragility
- compressed vertebral body
- bone marrow fibrosis
- mineralize bone trabeculae
Soft tissue tumors
tumors of support cells
Lipoma (benign tumor)
due to abnormal growth of adipocytes
-malignant tumors of adipocytes are called liposarcomas
Fibroma Pendulans
benign tumors of fibroblasts called fibromas
First Degree burn
Epidermis only
-redness, pain, edema (sunburn)
Second Degrée burns
- epidermis and dermis
- intense pain, redness, and blistering
Third degree burns
involve bone
-most commonly seen in electrical injury
Cancer- Sunlight and skin
Ultraviolet A (long wavelength)
- causing aging of skin, tanning and sometimes sunburn
- penetrates deeply and may contribute to skin cancer
Ultraviolet B
(shorter wavelength than A
- sunburn, premature aging, and wrinkling
- responsible for basal/squamous cell carcinomas
- play a role in malignant melanoma
Melanoma
deadliest skin cancers
-hard to treat, can go into remission then resurface years later
Basal cell carcinoma
most common skin malignancy
- develops slowly, rarely metastasizes
- nearly 100% curable if diagnoses early and & treated properly
Squamous Cell carcinoma
comes from cells in s. spinosum
- grows faster than basal cell carcinoma
- can mestastasize
Carcinoma
cancer involving epithelial cells
Epidermolysis bullosa
characterized by blistering following minor trauma
-due to defects in keratinocyte intermediate filaments
Warts
on dorsal of hands, near nails
-involves epidermal hyperplasia, eosinophilic cytoplasmic inclusions, and basophilic nuclei
UV radiation
exposure of unprotected skin to UV light can cause damage, even in absence of sunburn
Skin cancers
Basal cell carcinomas
-squamous cell carcinoma
Malignant mesothelioma
life threatening
- originates in melanocytes
- chemotherapy and surgery are involved to treat
Keloids
swelling in skin bc of increased collagen formation in scar tissue
-common in African Americans
Psoriasis
inflamed patches of skin with white, flaky layer on top
-due to increase in acitvyt of cells in Malpighian layer of epidermis
