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