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Hyperplasia
Increased # of tissue
Hypotrophy
Underdeveloped tissue
Anaplasia
poor cellular differentiation, indicative of potential for cancer
Metaplasia
transformation of one differentiated cell to another cell type
Dysplasia
Think DYStance, different (abnormal) cell growth (than normal)
I-Cell Disease
I looks like L = lysosomal enzyme poor labelling → lysosomes can’t break things down
Build up of material in the cell
ZellWeger
Oh Weller → fat = peroxisome problem
hypotonia
poor feeding
decreased fetal movement
high forehead
large fontanelles (baby skull tape)
hepatomegaly (enlarged liver)
abnormal liver
elevated substances
Refsum
EF = Phytanic acid breakdown trouble
R = retinal and neurological problems due to phytanic acid accumulation
Adrenoleukodystrophy
Long word = VLCFA accumulation = peroxisome problem
ADRENO = adrenal cortex affected
Nervous system affected
Kartagener
KART = transport = microtubules → dynein/cilia problems
trouble moving mucus from the respiratory tract
trouble with immobile sperm → infertility
Situs inversus
Marfan syndrome
FAN! = FibrAliN 1 defect → super important elastic fiber that regulates TGF-b signaling
Very tall - HIGH TGF-b
Arachnoid fingers
Pectus deformity
Aortic disease
COPD/ Emphysema
Smoking can cause inflammation & oxidative damage → destruction of elastin
Destroyed aveolar wall + low elastic recoil
Hyperinflated lungs
Menkes disease
Geez no copper (copper deficiency) - collagen problem
Low copper → Low lysyl oxidase → low collagen/elastin cross-linking = weak connective tissue
Developmental delay
Seizures
Hypotonia
Kinky/brittle hair
low serum copper
Ehler-Danlos syndrome
Damn he stretchy → abnormal collagen synthesis/ structure → connective tissue too stretchy/fragile
hyperextensible skin
joint mobility
Osteogenesis Imperfecta (OI)
Type I collagen mutation → bone, skin, tendons
Brittle Bones
Scurvy
Vitamin C deficiency (no hydroxylation of proline & lysine)
= weak collagen, poor connective tissue integrity
bleeding gums
poor wound healing
(-) ΔH & (+) ΔS
Favorable rxn at ALL Temps
(+) ΔH & (-) ΔS
Unfavorable rxn at ALL Temps
(-) ΔH & (-) ΔS
Favors Low Temps
(+) ΔH & (+) ΔS
Favors High Temps