DIT I: Foundations Flashcards
Name the embryonic tissue: epidermis, hair, nail, mammary gland, ant pituitary, lens, inner ear, teeth enamel, anal canal distal to pectinate
Surface ectoderm
Name the embryonic tissue: Schwann cells, glial cells, meninges, melanocytes, adrenal medulla, spiral septum, dorsal root ganglia
Neural crest cells
Name the embryonic tissue: CNS, retina, post pituitary, pineal body
Neural tube
Name the embryonic tissue: nucleus pulposis
Notochord
Fetal placental structure that secretes hCG
Syncytiotrophoblast
Maternal component of the placenta
Decidua basalis
3 germ layers that derive from epiblast
Ectoderm, mesoderm, endoderm
Teratogenic effect of: ACE inhibitors
Renal malformations
Teratogenic effect of: aminoglycosides
Ototoxicity, CN VIII damage
Teratogenic effect of: fluoroquinolones
Cartilage damage
Teratogenic effect of: cyclophosphamide
Ear/facial abn, limb hypoplasia, absence of digits
Teratogenic effect of: methotrexate
NTDs, abortion
Teratogenic effect of: tetracyclines
Discoloured teeth
Teratogenic effect of: carbamazepine and valproic acid
NTDs
Teratogenic effect of: phenytoin
Fetal hydantoin syndrome
Teratogenic effect of: lithium
Ebstein anomaly (tricuspid valve displaced downward into RV)
Teratogenic effect of: statins
CNS and limb abn
Teratogenic effect of: warfarin
Facial/limb/CNS abn, spontaneous abortion
Teratogenic effect of: isotretinoin
Spontaneous abortions
Teratogenic effect of: diethylstilbestrol (DES)
Clear cell vaginal adenocarcinoma
Teratogenic effect of: thalidomide
Phocomelia (limb hypoplasia)
By which week after conception is there fetal movement?
Week 8
By which week after conception does fetal genitalia take on visible characteristics?
Week 10
1 cause of intellectual disability in U.S.
Fetal Alcohol Syndrome
Smooth philtrum, thin upper lip, small palpebral fissures with wideset eyes, cleft lip/palate, developmental delay, microcephaly, holoprosencephaly
Fetal Alcohol Syndrome
Role of SHH gene in embryogenesis; what does a mutation cause?
Buds of limbs at zone of polarizing activity, organizes embryo in anterior –> posterior direction. Mut = holoprosencephaly
Role of Wnt7 gene in embryogenesis
Organization along dorsal-ventral axis
Role of Fgf7 gene in embryogenesis; what does a mutation cause?
Limb lengthening. Mut = short limbs, mut in Fgf receptor 3 = achondroplasia
Most common cause of congenital malformations in the U.S.
Alcohol use in pregnancy
Embryological origin of tissue just proximal to pectinate line and just distal
Prox = endoderm. Distal = surface ectoderm
Nuclear localization signals are rich in which 3 AAs?
Lys, Arg, Pro (+vely charged, can bind to -ve DNA)
What enzyme degrades cyclins?
Ubiquitin protein ligase
Which tumour suppressor proteins regulate G1 –> S?
Rb, p53
Which tumour suppressor proteins regulate G2 –> M?
p53
Which cyclins + cyclin-dependent kinases regulate G1 –> S?
Cyclin D + CDK4 –> Cyclin E + CDK2
Which cyclins + cyclin-dependent kinases regulate G2 –> M?
Cyclin A + CDK2, Cyclin B + CDK1 (with cdc 25)
Coat protein II (COP-II) vs COP-I
COP-II: anterograde trafficking (ER –> cis Golgi). COP-I: retrograde (Golgi –> ER)
Which AAs does the Golgi apparatus modify, mainly? (3)
Asn, Ser, Thr
3 methods of protein degradation
Lysosomal degradation, proteosomal degradation (via ubiquitin tags), Ca2+ dependent enzymes
Deficiency in mannose phosphorylation, death by age 8, corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movements
I-cell disease (No mannose-6-phosphate tagging –> lysosomal proteins secreted out of cell)
Where is vimentin found, and what tumours can a stain of it be used to detect?
Connective tissue (fibroblasts, leukocytes, endothelium). Sarcomas, some carcinomas
Where is desmin found, and what tumours can a stain of it be used to detect?
Muscle cells (smooth, skeletal, heart). Myosarcomas
Where is cytokeratin found, and what tumours can a stain of it be used to detect?
Epithelial cells (keratin in demosomes and hemidesmosomes). Carcinomas
Where is glial fibrillary acid proteins (GFAP) found, and what tumours can a stain of it be used to detect?
Astrocytes, Schwann cells, other neuroglia. Astocytomas (eg glioblastoma)
Where is peripherin found?
Neurons
Where are neurofilaments (L, M, H molecular weight) found, and what tumours can a stain of it be used to detect?
Axons within neurons. Neuroblastoma, primitive neuroectodermal tumour.
Where are nuclear lamins (A, B, C) found?
Nuclear envelope and DNA within
Molecular motor proteins: dynein vs kinesin
Kinesin walks toward (+) end, usually anterograde. Dynein walks toward (-) end, usually retrograde.
Situs inversus, bronchiectasis, chronic sinusitis
Kartagener syndrome (primary ciliary dyskinesia): due to dynein arm defect
How does Rb protein regulate cell cycle?
Phosphorylation of Rb –> allows E2F txn factor to influence txn (G1 –> S)
How does p53 influence cell cycle?
Controls activation of p21
Subunits of insulin receptor and their function
2 alpha units bins extracellular ligand, 2 beta subunits have tyrosine kinase activity.
Role of dynamin in receptor-mediated endocytosis
Pinches off vesicle formed by clathrin-coated pit
What is the defect in familial hypercholesterolemia?
Mutant LDL receptor lacks coated-pit binding site but retains functioning LDL-binding site –> can bind LDL but unable to ingest it
MOA: zileuton
Inhibits lipoxygenase –> decreased leukotrienes
MOA: zafirlukast & montelukast
Inhibit leukotriene receptors
Major anti-apoptotic regulator of mitochondrial permeability
Bcl-2
What gene product creates channels in mitochondrial membrane, and how is it activated?
Bax (pro-apoptotic), activated by DNA dmaage or apoptotic signal
What substance is released from mitochondria in the process of apoptosis, and what does it activate?
Cytochrome C, activates caspases
Define: pyknosis, karyorrhexis
Pyknosis = condensation of nuclear chromatin. Karryorhexis = nuclear fragmentation.
What substances do cytotoxic T cells and NK cells use to induce apoptosis in cells infected with a virus?
Perforin, granzyme B
4 stages of neutrophil extravasation
Rolling, tight binding, diapedesis, migration
Which adhesion molecules mediate neutrophil rolling?
Selectins on endothelium (E, P, and L)
Which adhesion molecules mediate neutrophil tight binding?
ICAM-1 on endothelium + LFA-1 on leukocytes
Which adhesion molecules mediate neutrophil diapedesis?
PECAM-1
Neutrophil chemotactic signals (4)
C5a, IL-8, LTB4, kallikrein
Disease and defect: delayed separation of umbilicus in newborns, recurrent bacterial infections
Leukocyte adhesion deficiency syndrome: due to abn integrin (LFA-1) affecting tight binding step
Things that lower ESR
abnormally shaped RBCs (eg sickle), polycythemia
What can elevated CRP predict?
MI, stroke, PAD, sudden cardiac death
What cell generates fibrinogen and CRP?
Hepatocyte