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189 Cards in this Set
- Front
- Back
What is the function of KDEL?
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Signal sequence to return proteins from Golgi to RER.
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What is the function of mannose 6-phosphate?
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Signal sequence to direct to lysosomes.
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What happens to a lysosome-bound proteins missing mannose 6-phosphate?
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"""Default"" pathway of exocytosis."
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Describe 'Tay-Sach's' disease.
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Lysosomal storage disorder; specifc enzyme.
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Describe 'I-cell disease'.
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Absence of M6P sequence.
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Describe the activity of Rab GTPase.
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Involved in docking vesicles (w/ v-SNARE, t-SNARE).
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Describe receptor-mediated endocytosis.
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Clathrin-coated pits --> vesicle --> early endosome --> multivesicular body --> late endosome + lysosomal vesicle --> lysosome
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What is the name for the group of intermediate filaments responsible keeping the nucleus intact.
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Lamins (A/B/C)
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Describe histones.
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"Proteins involved in DNA compaction; H1 is the ""linker histone""."
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Describe a nucleosome.
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Smallest unit of chromatin structure; DNA wrapped around a histone.
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Which protein's regulate the G1/S and G2/M boundaries?
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G1/S are mediated by cyclin-dependent kinases (Cdk) and cyclin; they phosphorylate lamins and cause their breakdown. G2/S are mediated by Rb and p53; both are highly associated with tumor development when mutated. Rb works through E2F, when Rb-E2F are complexed the cell cycle doesn't continue. However, when Rb is phosphorylated it is released from E2F and transcription of cell cycle proteins begins.
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Describe zonula occludens.
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Tight junction.
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Describe zonula adherens.
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Actin filaments linking two cells together.
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Describe macula adherens.
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Desmosomes; Intermediate filaments linking two cells together.
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What is the function of neutrophils?
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Involved in phagocytosis; major constituent of pus.
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What is the function of basophils?
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Similar to mast cells; histamine, heparin release.
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What is the function of eosinophils?
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Parasite mediation.
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Which collagen is in the majority of connective tissue?
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Type I
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Which collagen is found in hyaline cartilage?
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Type II
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Which collagen is found in reticular networks, supporting organs?
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Type III
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Which collagen is found in basal lamina?
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Type IV
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What collagen connects connects collagen fibrils to EC matrix?
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Fibril-associated collagens with interrupted triple helices (FACIT)
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What is the name of the lacuna that osteoclasts reside in?
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Howship's lacuna
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What are the 5 major effects of increasing PTH concentrations?
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Increase: bone resorption, osteoclast activity, ruffled borders development on osteoclasts, 1,25-(OH2)-Vitamin D synthesis in the liver, and Ca++ absorption.
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What is the chemical pathway for the activation of osteoclasts by PTH?
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Increased PTH --> stimulate RANK-L and M-CSF --> produces osteoprotegrin (OPG) to bind RANK-L, which normally binds to RANK on osteoblast to inhibit. The result is activation by absence of RANK-L.
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Where is tropinin found?
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Skeletal muscle and cardiac muscle. NOT smooth muscle.
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What produces myelin in the CNS?
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Oligodendrocytes
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What produces myelin in the PNS?
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Schwann cells
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What are the macrophages in the brain?
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Microglia
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Which cells produce the blood brain barrier and which cells maintain them?
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Astrocytes and endothelium respectively.
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What is the specific name for transport down an axon?
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Axoplasmic transport.
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What is the respective location of gray and white matter in the brain, and in the spinal cord?
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Brain: gray outside, white inside. Spinal cord: white outside, gray inside.
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What two major ways are there for regulating blood vessel flow?
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(1) Sympathetic NS (2) Humoral factors.
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What is a major vasoconstrictor, and a two major vasodilators. Include any relevate details.
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Vasoconstrictor 1: Endothelin-1; Vasodilator: NO; made from L-arg, induces a cGMP cascade. Vasoconstrictor 2: Prostacyclin; works through cAMP and also inhibits platelet adhesion and clot formation.
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What is the function of von Willebrand factor (vWF)?
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Induces coagulation / thrombus formation.
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What is the function of fibrinolytic tissue-type plasminogen activator (tPA)?
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Breakdown blood clots
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What is the function of E-selecting?
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Expressed on endothelium, assists extravasation of monocytes and neutrophils. Expression induced in chemokines.
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What is one of the effects of hypertension on blood vessel smooth muscle?
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Hyperplasia / hypertension
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How can the heart be considered an endocrine gland?
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Releases ANP, which inhibits vasopression (ADH) release and reduces blood volume.
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What are the stages of maturation for an RBC from it's primitive lineage?
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Proerythroblast --> basophilic erythroblast --> polychromatiophilic erythroblast --> orthochromatic erethroblast --> reticulocyte --> erythrocyte
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What cells mediate humoral immunity?
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B cells and T helper cells.
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What cells mediate cell-mediated immunity?
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T cells.
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What cells can function as APC's?
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B cells, macrophages, dendritic cells
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What is the cellular distribution of MHCI, MHCII?
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MHCI on virtually all cells, MHCII on T cells.
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What CD are immunologically relevant, what cells are they on?
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CD4+ cells are T helper, CD8+ cells are on T cytoxic
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What proteins are used by Tc to kill target cells?
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Perforin, granzyme.
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Which critical cytokine activates macrophages, and what cell releases it?
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Interferon gamma, Th cells.
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What are the primary and secondary lymphoid organs?
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Primary: BM and thymus; Secondary: lymph nodes, tonsils, spleen
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What are Hassall's corpuscles?
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Function unknown, but they're a defining feature of the thymus.
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What are characteristic features of lymph nodes and diffuse lymph tissue?
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Primary and secondary follicles (germinal center)
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What are characteristic features of the spleen?
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Red and white pulp
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What is the last portion of the conducting pathway?
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Terminal bronchiole
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What is the first portion of the respiratory portion?
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Respiratory bronchiole
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What is a defining feature of respiratory tissue basal lamina?
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Thin, joint lamina propria shared by type I pneumocytes and endothelium.
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What is a defining feature of type II pneumocytes and what is their function?
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Lamellar bodies and surfactant.
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What are the contents of surfactant?
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Sphingomyelin, DPPC, and lecithin
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"What is the ""rule of thumb"" for cell type throughout the GI?"
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Simple columnar throughout, and stratified squamous in areas of maximum friction (e.g. esophagus and anus).
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What are the products of surface and neck cells?
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Mucus
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What are the products of chief cells?
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Pepsinogen
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What are the products of parietal cells?
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IF and acid
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What is a defining feature of the parietal cells?
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Intracellular canaliculi.
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What are the contents of pancreatic juice?
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Trypsinogen, chymotrypsinogen, procarboxypeptidases, amylase, and lipase.
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How are the enzymes of pancreatic juice activated?
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Enterokinase (of the microvilli) activates trypsinogen to trypsin, which in turn activates the rest.
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Describe the process of fat digestion and transport to target tissues.
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Emuslified in bile --> lipases break down into FA's and glycerol --> transported into cell --> repackaged into chylomicron --> transport across basolateral membrane via exocytosis --> picked up by lacteals --> processed by liver into a new form, VLDL's --> transported to target tissues.
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What is the function of enterocytes?
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Absorption
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What is the function of Paneth cells?
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Lysozyme, defensin, cryptidin production.
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What is the function of goblet cells?
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Mucus
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What is the function of enteroendocrine cells?
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Secretion of peptide hormones.
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What is a major histological difference between the small and large intestines?
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No villi, just crypts.
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What is the prominent cell in the colon?
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Goblet cell
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What are the three major salivary glands?
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Parotid, submandibular, sublingual.
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What hormones regulate the exocrine pancreas?
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CCK, secretin
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What is the action of CCK on the pancreas?
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Stimulates the acinar cells
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What is the action of secretin on the pancreas?
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Stimulates ductal cells
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What endocrine proteins does the liver make?
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Albumin, fibrinogen, and other coagulation proteins.
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What are the major enzymes involved in EtOH detoxification in hepatocytes, and where do they originate in the cell?
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Alcohol dehydrogenase (mitochondria), microsomal ethanol oxidation system (MEOS; mitochondria), and catalase (peroxisome).
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Describe the structure of a hepatocyte with relation to the major liver vessels.
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Bile canaliculus is apical, junctional complex is lateral, and hepatic sinusoids are basal.
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What is the space of Disse?
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A space between the basal portion of a hepatocyte and the liver venous sinusoid.
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What cells line the liver sinusoids?
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Hepatic stellate cells.
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What is the effect of cirrhosis on stellate cells?
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They're converted into myofibroblasts.
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What are the APC's of the liver?
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Kupffer cells
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What is the embryological origin of the adenohypophysis?
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Oral ectoderm; Rathke's pouch.
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What is the function of prolactin and what is it's classification?
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Promote lactation; acidophilic cell of adenohypophysis.
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What is the function of growth hormone and what is it's classification?
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Promote generalized growth; acidophilic cell of adenohypophysis.
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What is the function of LH and what is it's classification?
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Promote steroid production; basophilic cell of adenohypophysis.
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What is the function of FSH and what is it's classification?
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Promote gamete production; basophilic cell of adenohypophysis.
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What is the function of TSH and what is it's classification?
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Promotes stimulation of T3/T4; basophilic cell of adenohypophysis.
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What is the function of ACTH and what is it's classification?
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Promotes stimulation of adrenal cortex; basophilic cell of adenohypophysis.
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What is the function of oxytocin and what is it's classification?
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Promote lacation; neurohypophysis, but synthesized in supraoptic nuclei in hypothalamus.
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What is the function of vasopression (ADH) and what is it's classification?
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Promote water reabsorption and increase blood pressure; neurohypophysis, but made in paraventricular nuclei of hypothalamus.
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What is the major product of the adult adrenal medulla?
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Epinephrine (minor norepinephrine).
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What is the majorproduct of the adrenal cortex?
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DHEA(S)
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What are the layers of the adrenal cortex and their products?
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Zona glomerulosa: aldosterone, zona fasciculata: cortisol / DHEA(S), zona reticularis: DHEA(S) / cortisol
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What is the embryonic origin of the adrenal cortex?
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Intermediate mesoderm.
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What is the embryonic origin of the adrenal medulla?
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Neural crest cells
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What is the cell producing the major hormones of the adrenal medulla?
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Chromaffin cells
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Describe Congenital Adrenal Hyperplasia.
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Enzyme deficiency leads to hyperplasia of adrenal cortex and elevated ACTH production. Female genitalia will virilize.
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Describe Cushing's syndrome.
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Hypercortisolism due to enzyme deficience. More common in women than men.
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Describe Addison's Disease.
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Primary adrenal insufficiency, often autoimmune in origin.
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Which cells produce T3/T4?
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Follicular cells of thyroid.
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Which cells produce calcitonin?
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C-cells of thyroid aka Parafollicular cells.
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Describe Hashimoto's thyroiditis.
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Autoimmune attack on thyroid --> hypothyroidism
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Describe graves disease.
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Autoimmune attack on TSH receptors --> hyperthyroidism
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What gland produces melatonin and what is the stimulus?
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Pineal gland; stimulated by darkness.
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What cells produce insulin?
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Beta cells of pancreas
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What cells produce glucagon?
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Alpha cells of pancreas
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Describe Type I Diabetes.
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Autoimmune against insulin production.
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Describe Type II Diabetes.
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Desensitized against insulin at target tissues.
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"What cells are scattered throughout the body with generalized endocrine function, and at what ""level"" do they operate."
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Enteroendocrine cells; paracrine / autocrine level.
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Detail the stages of sperm maturation.
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Spermatogonia --> primary spermatocyte --> secondary spermatocyte --> spermatid --> mature sperm
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What is the function of the sertoli cell?
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Blood-testis barrier, nourish speratocytes, produce AMH, ABP, and inhibin.
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What type of epithelium is in the epididymis?
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Psuedostratified with sterocilia.
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What are the products of the epididymis?
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Fructose and spermatazoa-activing proteins.
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What are the products of the prostate?
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Enzymes for liquidification of ejaculate.
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Detail the stages of oocyte maturation.
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Oogonia --> primary oocyte --> secondary oocyte --> ova
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Detail the various forms of follicular development.
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Primordial follicle --> primary follicle --> secondary follicle -> mature (Graafian) follicle
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What are the cellular changes that occur after ovulation?
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Granulosa --> granulosa lutein, lutein cells --> granulosa lutein.
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What maintains the corpus luteum upon pregnancy?
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hCG, the LH-like hormone produced first by the syncitiotrophoblast and then by the placenta.
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What are the two phases of the menstrual cycle?
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(1) follicular phase, (2) proliferative phase
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What hormone predominates in the follicular phase?
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Estrogen; FSH stimulated
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What hormone predominates in the proliferative phase?
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Progesterone, with still reasonable levels of estrogen; LH stimulated.
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What are the two major components of the placenta after implantation?
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Chorion (placental), and decidua basalis(maternal)
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Where does the photosensitive layer of the retina originate from?
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The optic cup
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Describe the contents and action of rhodopsin in visual signal transduction.
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Rhodopsin (retinal + opsin) + UV --> conformational change which leads to dissocation of retinal-opsin complex --> decrease in cGMP levels --> closure of membrane sodium channels --> hyperpolarization of photoreceptor cell.
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What is the fovea?
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Center of the retina; contains all cones.
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What is the embryologic origin of the lens?
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Surface ectoderm.
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What may cause cataracts?
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UV and/or high glucose levels.
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Which layer of the eye carries the supportive vasculature?
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Choriod
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Which layer of the eye supports the shape?
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Sclera
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What produces the aqueous humor?
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Ciliary body
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Where do we find teh aqueous humor, in what compartment?
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Anterior compartment, between the lens and the iris.
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What is the name of the angle of the eye?
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Iridocorneal angle
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Where does the aqueous humor drain?
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canal of Schlemm in the iridocorneal angle.
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What causes glaucoma?
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Intraocular pressure generated by blockage of the canal of Schlemm.
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What are the two transduction systems / functions of the ear?
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Audition and equilibrium
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What is the embryonic origin of the external ear?
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First two branchial arches.
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What forms the three bones of teh middle ear?
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First two arch cartilages.
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What are the inner contents of the inner ear?
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Membranous labyrinth, bony labyrinth
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What is the function of the semicircular canal?
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Provide rotational information to the cristae ampullaris
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What structures pick up rotational information in the ear?
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Cristae ampullaris in the inner ear
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What structures pick up horizontal and vertical information in the inner ear?
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Utricle for horizontal and saccule for vertical motion.
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What is the structure in the ear that registers different frequencies?
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Organ of corti. Stiffer hairs are closer to the tympanic membrane and detect higher frequencies, and softer hairs are further in and detect lower frequencies.
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What is an integrin?
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Connects a cell to the EC matrix around it.
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Describe the cytoskeleton of an RBC.
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Band 3 (an integrin) crosses the membrane, connects to ankyrin, and is stabilized by Band 4.1 which connects Band3 to spectrin.
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Describe the cytoskeleton of a non-erythroid cell.
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Actin serves as the integrin, alphaactinin cross-links actin, vinculin binds alpha-actinin to talin, which attaches integrin to the plasma membran.
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Descrbe hereditary spherocytosis.
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Spectrin deficiency/mutation, leads to misshapen RBC (spherocytes) --> anemia.
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What are lipofuscin granules?
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Residue of undigested matrials present in residual bodies.
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Describe Tay-Sachs disease.
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Common in Jewish children; accumulation of GM2 Gangliosides, due to a lysosomal enzyme deficiency, leads to major neural damage and early death.
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Describe Hurler's syndrome.
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Accumulation of glycosaminoglycans (GAGs) in the heart, liver, brain, due to a lysosomal enzyme deficiency. Leads to neural damage, enlarged organs, deafness and early death.
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Describe Zellweger syndrome.
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Peroxisomal disorder which leads to very early death.
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Describe adrenoleukodystrophy.
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Peroxisomes unable to process fatty acids, leading to accumulation in nervous system and adrenal glands, impairing their function.
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What is a major function of fibronectin?
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Mediate cell adhesion via binding to fibronectin receptors (integrins).
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What is a major function of laminin?
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Mediates interactions between epithelial cells and the EC matrix by ahcnoring cell surface to basal lamina.
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In the production of collagen, what events take place in the RER and in the Golgi?
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RER: folding, hydroxylation of proline/lysine residues (require Vit C), triple helix formation. Golgi: addition of carbohydrates, secretory vesicles.
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Describe Marfan syndrome.
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Deficiency/defect in fibrillin, which is an important protein for elastic fibers. May lead to aortic rupturing. Aorta can rupture.
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Describe Ehlers-Dnalos Sype IV syndrome.
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Genetic defect in DNA transcription or mRNA translation for Type III collagen (reticular fibers). Often associated with ruptured bowels/arteries.
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Describe immotile cilia syndrome.
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Associated with dysfucntional dynein arms. Associated with reduced fertility / sterility, and lower respiratory infections.
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Describe bullous pemphigoid.
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Autoimmune; Ab against hemidesmisomes produced. Skin blisters and can cause epithelium to separate from underlying substratum.
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What is the name of the protein that anchors Z disks?
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Desmin
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What protein assists in anchoring the thin filament to the Z-disk?
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Nubulin
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What molecules keeps the minus end of the thin filament from degenerating?
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Tropomodulin
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Descirbe Duchenne's muscular dystrophy (DMM).
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Defect in dystrophin protein, sex linked, death before 20; skeletal muscle cells are replace by fatty cells and fibrous tissue.
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Describe Amyotrophyic lateral sclerosis (ALS).
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Degeneration of spinal cord neurons --> muscle atrophy and death due to respiratory failure.
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How does botulism work?
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Blocks ACh release.
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What is the result of "Factor VIII" deficiency?
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Hemophilia A, can be very dangerous; x-linked.
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What is the result of vWF deficiency?
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Antoher form of hemophilia, sometimes doesn't require treatment.
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What differentiates Factor VIII deficience and vWF deficiency?
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The level of severity. VIII deficiency is more sever with bleeding into joints, and requiring treatment more often.
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Describe infectious mononucleosis.
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Casued by EBV; affects young; kissing disease, can be life-threating in immune compromised individuals.
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Describe Burkitt Lymphoma.
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Caused by EBV; found in Africa, much more serious than mononucleousis.
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Differentiate between acute and chronic leukemia.
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Acute is in immature leukocytes and found more often in children; rapid onset, with anemia, high WBC count, many circulaing immature WBC, low platelet count. Chronic is slow onset, and inovlves relatively mature cells. Can have similar symptoms.
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Differentiate between atherosclerosis and arteriosclerosis.
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Atherosclerosis is associated with dangerous plaque formations. Arteriorsclerosis is a hyaline thickening of blood vessels.
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Describe rheumatic valve disease?
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Starts off as rheumatic fever in children, leads to reduced elasticicty of heart valves adn causes either incompetence or stenosis.
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What is DiGeorge syndrome?
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Aka Congenital thymic aplasia. Abnormal cell-mediated immunity; tetany may also occur due to absence of PTH (parathyroid also absent in DiGeorge).
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What types of infections characterize AIDS?
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Kaposi sarcoma, non-Hodgkin lymphoma, secondary infetions.
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What is Hodgkin disease?
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Neoplastic formation of lymphocytes, mostly in young men.
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What forms "Hassal's corpuscles" in the thymus?
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Epithelial reticular cells.
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Describe epidermolysis bullosa.
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A group of hereditary skin diseases characterized by formation of blisters following minor trauma. Defects in keratinocyte intermediate filaments and in anchoring fibrils that attach the epidermis to the dermis.
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What type of cell is associated with malignant melanoma?
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Melanocytes.
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What are keloids?
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Hyperplastic scar tissue, common in people of african descent.
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What is psoriasis?
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Increased mitotic activity, and shorter than normal cell cycle leading to reddish skin with a whittish flakey layer on top.
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Describe infant respiratory distress syndrome.
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Aka hyaline membrane disease. Type II pneumocytes are not producing mature surfactant. Treat with glucocorticoids.
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What is asbestosis?
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Asbestos fibers deposit in alveolar ducts and alveoli and penetrate lung interstitum. Macrophaes are activated in a inflammatory response with leads to pulmonary fibrosis.
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What is gluten enteropathy?
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Gluten may have a destructive effect on intestinal tissue, reducing surface area. Treat with reduced gluten in diet.
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Describe Hepatitis A.
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Fecal to oral transmission. Usually not fatal, but can cause jaundice.
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Describe Hepatitis B.
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Transmitted by blood. More serious than A, can cause death.
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What is a teratoma?
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Germ cell tumors. There are three types: 1. mature, benign 2. monodermal 3. immature, fast growing and malignant
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Describe cryptochordism.
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Failure of testes to descend.
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What is conjunctivitis?
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Inflammation of conjunctiva, producing red sclera.
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What is presbiopia?
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Inability of eye to accomodate.
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