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76 Cards in this Set
- Front
- Back
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pelger-huet anomaly
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lamin disorder resulting in hyposegmentation of white blood cells
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|
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I-Cell Disease
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mucolipidosis, M-6-P defect in the Golgi complex does not transfer to the lysosomes, but instead secretes the necessary enzymes
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zellweger syndrome
|
inability to import newly formed proteins across peroxisomal membranes; newly synthesized peroxisomal enzymes remain in cytoplasm and are destroyed; peroxisomes are thus empty; myelin synthesis is affected
|
|
|
Von Gierke disease
|
hepatorenalmegaly, deficiency of G-6-Phosphatase to convert glycogen to glucose. G-6-P is located in the inner membrane of the ER
|
|
|
Krabbe
|
GALC deficiency results in myelin deficiency
|
|
|
Ubiquinated aggregate diseases
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Parkinsons, cirrhosis of the liver, and Alzheimer's
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|
Parkinsons disease
|
increase in ubiquitin marked lewy bodies
|
|
|
Cirrhosis of the liver
|
mallory bodies increase
|
|
|
Alzheimer's
|
increase in neurofibrillary tangles
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|
|
Alexander disease
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GFAP Ifs are affected. Cytoplasmic inclusions in astrocytes (rosenthal fibers) this leads to cell breakdown, psychomotor retardation
|
|
|
Brown Atrophy
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A decrease in the size and function, cells shrink due to increased catabolism of cell organelles, atrophy can cause an increase in lipofuxcin in cells, brown atrophy is a tissue discoloration that results from lysosomal accumulation of lipofuscin pigment
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Familial hypercholesterolemia
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an autosomal dominant disorder caused by a mutation that encodes LDL receptors. Defective receptors lose an affinity for coated pits, so uptake of cholesterol is blocked. High cholesterol may result in MI, stroke, midlife death.
|
|
|
myoclonic Epilepsy with Ragged Red Fibers (MERRF)
|
a point mutation in a mitochondrial DNA gene encoding tRNA for lysine; result - deficiency in the oxidative phophorylation chain. Neuons and muscles cells are the most affected. Respiratory and cardiac failure- generalized muscle weakness, ataxia, and seizures
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|
|
M-6-P
|
An enzyme in the Golgi that directs proteins to lysosomes
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|
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Marker enzyme
|
an enzyme that can be detected clinically and is used to detect cell/tissue infjury and cell activity. Examples of marker enzymes are creatine kinase MB for acute myocardial infarction; amylase and lipase are marker enzymes for acute pancreatitis.
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|
|
1. Epithelial dysplasia � abnormal growth and development
|
1. Occurs in response to persistant injury (or mutational change) 2. Usually regresses; in the absence of regression this is an early step in cancer development 3. Histologically � variation in shape/size of cells; increase in size of nucleus; abnormal arrangement of cells within the epithelium 4. Usually seen but not limited to hyperplastic squamous epithelium (skin, bronchus, cervix etc)
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2. Carcinoma
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1. Cancer arising from epithelial cells 2. Malignant by definition � invades surrounding tissues and organs 3. Carcinoma in-situ: cytology indicates malignant changes but no invasion thru basement membrane 4. Named by appearance of cells (e.g., squamous cell carcinoma), putative cell of origin (renal cell carcinoma), or presumptive organ of primary development (carcinoma of prostate)
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3. Primary Ciliary Dyskinesia (Immotile Cilia Syndrome � Kartagener�s syndrome; Young�s syndrome; & Hydrocephalus internus)
|
1. This is a broad group of autosomal recessive hereditary disorders affecting 1/20,000 births. 2. In Kartagener�s syndrome, dynein arms are absent resulting in recurrent respiratory infections and male sterility. In addition, 50% of patients also have situs inversus. 3. In Young�s syndrome, radial spokes are absent or defective. In addition, there are also some defects observed in dynein arms. These defects again result in recurrent respiratory infections & situs inversus.
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4. Polycystic kidney disease
|
1. 1 in 800 � 1000 white individuals is a carrier of this disease, which is the 4th leading cause of kidney failure in the US. 2. Due to a defect in either the formation or function of sensory cilia of collecting ducts. 3. Flow of urine bends the cilium, which opens a mechanicosensitive calcium channel. The influx of calcium into the cilium, is the first step of a signal transduction pathway that ultimately regulates the cell cycle.4. Result is the formation of multiple expanding cysts (unregulated cell division) in kidneys that ultimately result in kidney failure.
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5. Bardet-Biedl Syndrome
|
1. A collection of genetically heterogeneous disorders (at least 9 loci). 2. Due to defects in the formation and/or functioning of basal bodies &/or cilia. In the absence of a functional cilium, the signaling pathways that should be found in this organelle do not function correctly, if at all. 3. This syndrome is characterized by congenital impairment, retinal degeneration leading to blindness, trunk obesity, cystic kidneys, polydactyly, situs inversus, and heart defects. 4. Treatment for bardet-biedl syndrome includes a kidney transplant if patient has cystic kidneys, surgery to remove extra digits (polydactyly). Currently, there is no effective treatment for other symptoms.
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|
|
6. Pleural mesothelioma
|
tumors that arises from parietal and visceral serous membranes of pleural, peritoneal, and pericardial cavities. 2. Pleural mesothelioma is usually caused by occupational exposure to asbestos and has a long latency period (25 � 40 years). Symptoms include shortness of breath, chest pain, and accumulation of pleural fluid.3. Treatment includes surgery, radiation, and chemotherapy. Patients generally have a poor prognosis due to metastasis to lymph nodes and other organs.
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|
|
7. Destruction of junctional complexes by bacteria
|
1 Bacteria target proteins of ZO resulting in breakdown of zonula occludens a. #7: Enterotoxin of Clostridium perfringens binds specific claudins. This binding ultimately results in the formation of a pore in the epithelial cell membrane leading to cell death. b. H. pylori binds to JAM at tight junctions; causes redistribution of occludin, JAM, and ZO-1; loss of epithelial polarization and tight junction function
|
|
|
8. Destruction of junctional complexes by viruses & parasites
|
#8: Viruses target proteins of ZO resulting in either death or oncogenesis a. Hepatitis C virus binds claudin allowing internalization of virus and ultimately results in liver cirrhosis. b. Reoviruses bind JAM allowing internalization of the virus; frequent infections in children resulting in respiratory and GI diseases 3. Parasites (house mite) � serine protease(s) destroy occludin & ZO-1; no longer functions as barrier & respiratory epithelium b/c vulnerable to allergens
|
|
|
9. Congenital deafness & cataracts
|
Cx26 - congenital deafness (K+ circulation in cochlear sensory epithelium); Cx 46 & Cx 50 mutations identified in patients w/ inherited cataracts (nutrients/waste from avascular lens); Cx32 � associated with X-linked Charcot Marie Tooth Disease g peripheral neuropathy
|
|
|
10. Bullous pemphigoid (Blistering Disease)
|
1. Autoimmune disease �antibodies produced against hemidesmosomes g degradation 2. Onset at age ~65; rare in US, more common in Europe 3. Characterized by chronic, generalized blisters in skin causing epithelium to separate from C 4. Diagnosed by presence of IgG directed against BP230 5. Treatment: corticosteriods and immunosuppressives
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|
11. Adenocarcinoma
|
1. Form of carcinoma orginating in glandular tissue 2. Cells do NOT have to appear glandular but DO have to have secretory properties 3. Most common type of colorectal cancer
|
|
|
Dupuytren Disease
|
Overgrowth of connective tissue in the hand after a wound
|
|
|
Marfan syndrome
|
defect in FBN1 gene that encodes fibrillin-1
|
|
|
Osteogenesis Imperfecta
|
Brittle bone disease failure of collagen I
|
|
|
Ehlers-Danlos IV
|
Failure of collagen III, weakness in veins and elastic tissue
|
|
|
Alport Syndrome
|
Collagen IV failure resulting in kidney disease
|
|
|
Hurler Syndrome
|
an increase in the two glycosaminoglycans (GAGs) dermatan sulfate or heparan sulfate in the connective tissue; it is also called
|
|
|
|
mucopolysaccharidosis I since GAGs used to be called mucopolysaccharides; it is a genetic disorder, a LSD, due to a deficiency of the enzyme iduronidase. Dermatan sulfate is important in CT of skin, blood vessels, heart valves. Heparan sulfate is important in the basal lamina and as a cell surface GAG (see syndecan). It is marked by hepatosplenomegaly, dwarfism, and unique facial features (hence also called gargoylism).
|
|
|
Lipoma
|
most common benign adipose tissue tumor; well-defined, soft, painless, masses of mature adipocytes usually found in the subcutaneous tissue of the back, thorax, and proximal parts of the upper and lower limbs.
|
|
|
Keloids
|
the result of overgrowth of dense CT that usually develops after healing of a skin injury; they can be described as variations of typical wound healing; more collagen is produced than degraded and the scar grows in all directions. Myofibroblasts play a role by continued proliferation and remodeling beyond the boundaries of the original wound.
|
|
|
Multiple Myeloma
|
Sheets of malignant plasma cells are present in a bone marrow aspirate, plasma cells account for over 10% of cells in the aspirate; IgM spike occurs in 80-90% of cases
|
|
|
Anaphylaxis
|
� a life threatening allergic (type 1 immediate hypersensitivity) reaction. Occurs after ingestion, skin contact, injection of an allergen or inhalation. A process/event (see ppt) occurs leading to the degranulation of mast cells; skin appears red and edematous. Wheals of urtricaria or hives sometimes result
|
|
|
Soft tissue
|
a term used in pathology, soft tissue refers to the connective tissue structures tendons, ligaments, fascia, skin, any other collection of collagen fibers, fat, and synovium. Muscles, nerves, and blood vessels are also considered soft tissue. So, most everything, not being bone.
|
|
|
pelger-huet anomaly
|
lamin disorder resulting in hyposegmentation of white blood cells
|
|
|
I-Cell Disease
|
mucolipidosis, M-6-P defect in the Golgi complex does not transfer to the lysosomes, but instead secretes the necessary enzymes
|
|
|
zellweger syndrome
|
inability to import newly formed proteins across peroxisomal membranes; newly synthesized peroxisomal enzymes remain in cytoplasm and are destroyed; peroxisomes are thus empty; myelin synthesis is affected
|
|
|
Von Gierke disease
|
hepatorenalmegaly, deficiency of G-6-Phosphatase to convert glycogen to glucose. G-6-P is located in the inner membrane of the ER
|
|
|
Krabbe
|
GALC deficiency results in myelin deficiency
|
|
|
Ubiquinated aggregate diseases
|
Parkinsons, cirrhosis of the liver, and Alzheimer's
|
|
|
Parkinsons disease
|
increase in ubiquitin marked lewy bodies
|
|
|
Cirrhosis of the liver
|
mallory bodies increase
|
|
|
Alzheimer's
|
increase in neurofibrillary tangles
|
|
|
Alexander disease
|
GFAP Ifs are affected. Cytoplasmic inclusions in astrocytes (rosenthal fibers) this leads to cell breakdown, psychomotor retardation
|
|
|
Brown Atrophy
|
A decrease in the size and function, cells shrink due to increased catabolism of cell organelles, atrophy can cause an increase in lipofuxcin in cells, brown atrophy is a tissue discoloration that results from lysosomal accumulation of lipofuscin pigment
|
|
|
Familial hypercholesterolemia
|
an autosomal dominant disorder caused by a mutation that encodes LDL receptors. Defective receptors lose an affinity for coated pits, so uptake of cholesterol is blocked. High cholesterol may result in MI, stroke, midlife death.
|
|
|
myoclonic Epilepsy with Ragged Red Fibers (MERRF)
|
a point mutation in a mitochondrial DNA gene encoding tRNA for lysine; result - deficiency in the oxidative phophorylation chain. Neuons and muscles cells are the most affected. Respiratory and cardiac failure- generalized muscle weakness, ataxia, and seizures
|
|
|
M-6-P
|
An enzyme in the Golgi that directs proteins to lysosomes
|
|
|
Marker enzyme
|
an enzyme that can be detected clinically and is used to detect cell/tissue infjury and cell activity. Examples of marker enzymes are creatine kinase MB for acute myocardial infarction; amylase and lipase are marker enzymes for acute pancreatitis.
|
|
|
1. Epithelial dysplasia � abnormal growth and development
|
1. Occurs in response to persistant injury (or mutational change) 2. Usually regresses; in the absence of regression this is an early step in cancer development 3. Histologically � variation in shape/size of cells; increase in size of nucleus; abnormal arrangement of cells within the epithelium 4. Usually seen but not limited to hyperplastic squamous epithelium (skin, bronchus, cervix etc)
|
|
|
2. Carcinoma
|
1. Cancer arising from epithelial cells 2. Malignant by definition � invades surrounding tissues and organs 3. Carcinoma in-situ: cytology indicates malignant changes but no invasion thru basement membrane 4. Named by appearance of cells (e.g., squamous cell carcinoma), putative cell of origin (renal cell carcinoma), or presumptive organ of primary development (carcinoma of prostate)
|
|
|
3. Primary Ciliary Dyskinesia (Immotile Cilia Syndrome � Kartagener�s syndrome; Young�s syndrome; & Hydrocephalus internus)
|
1. This is a broad group of autosomal recessive hereditary disorders affecting 1/20,000 births. 2. In Kartagener�s syndrome, dynein arms are absent resulting in recurrent respiratory infections and male sterility. In addition, 50% of patients also have situs inversus. 3. In Young�s syndrome, radial spokes are absent or defective. In addition, there are also some defects observed in dynein arms. These defects again result in recurrent respiratory infections & situs inversus.
|
|
|
4. Polycystic kidney disease
|
1. 1 in 800 � 1000 white individuals is a carrier of this disease, which is the 4th leading cause of kidney failure in the US. 2. Due to a defect in either the formation or function of sensory cilia of collecting ducts. 3. Flow of urine bends the cilium, which opens a mechanicosensitive calcium channel. The influx of calcium into the cilium, is the first step of a signal transduction pathway that ultimately regulates the cell cycle.4. Result is the formation of multiple expanding cysts (unregulated cell division) in kidneys that ultimately result in kidney failure.
|
|
|
5. Bardet-Biedl Syndrome
|
1. A collection of genetically heterogeneous disorders (at least 9 loci). 2. Due to defects in the formation and/or functioning of basal bodies &/or cilia. In the absence of a functional cilium, the signaling pathways that should be found in this organelle do not function correctly, if at all. 3. This syndrome is characterized by congenital impairment, retinal degeneration leading to blindness, trunk obesity, cystic kidneys, polydactyly, situs inversus, and heart defects. 4. Treatment for bardet-biedl syndrome includes a kidney transplant if patient has cystic kidneys, surgery to remove extra digits (polydactyly). Currently, there is no effective treatment for other symptoms.
|
|
|
6. Pleural mesothelioma
|
tumors that arises from parietal and visceral serous membranes of pleural, peritoneal, and pericardial cavities. 2. Pleural mesothelioma is usually caused by occupational exposure to asbestos and has a long latency period (25 � 40 years). Symptoms include shortness of breath, chest pain, and accumulation of pleural fluid.3. Treatment includes surgery, radiation, and chemotherapy. Patients generally have a poor prognosis due to metastasis to lymph nodes and other organs.
|
|
|
7. Destruction of junctional complexes by bacteria
|
1 Bacteria target proteins of ZO resulting in breakdown of zonula occludens a. #7: Enterotoxin of Clostridium perfringens binds specific claudins. This binding ultimately results in the formation of a pore in the epithelial cell membrane leading to cell death. b. H. pylori binds to JAM at tight junctions; causes redistribution of occludin, JAM, and ZO-1; loss of epithelial polarization and tight junction function
|
|
|
8. Destruction of junctional complexes by viruses & parasites
|
#8: Viruses target proteins of ZO resulting in either death or oncogenesis a. Hepatitis C virus binds claudin allowing internalization of virus and ultimately results in liver cirrhosis. b. Reoviruses bind JAM allowing internalization of the virus; frequent infections in children resulting in respiratory and GI diseases 3. Parasites (house mite) � serine protease(s) destroy occludin & ZO-1; no longer functions as barrier & respiratory epithelium b/c vulnerable to allergens
|
|
|
9. Congenital deafness & cataracts
|
Cx26 - congenital deafness (K+ circulation in cochlear sensory epithelium); Cx 46 & Cx 50 mutations identified in patients w/ inherited cataracts (nutrients/waste from avascular lens); Cx32 � associated with X-linked Charcot Marie Tooth Disease g peripheral neuropathy
|
|
|
10. Bullous pemphigoid (Blistering Disease)
|
1. Autoimmune disease �antibodies produced against hemidesmosomes g degradation 2. Onset at age ~65; rare in US, more common in Europe 3. Characterized by chronic, generalized blisters in skin causing epithelium to separate from C 4. Diagnosed by presence of IgG directed against BP230 5. Treatment: corticosteriods and immunosuppressives
|
|
|
11. Adenocarcinoma
|
1. Form of carcinoma orginating in glandular tissue 2. Cells do NOT have to appear glandular but DO have to have secretory properties 3. Most common type of colorectal cancer
|
|
|
Dupuytren Disease
|
Overgrowth of connective tissue in the hand after a wound
|
|
|
Marfan syndrome
|
defect in FBN1 gene that encodes fibrillin-1
|
|
|
Osteogenesis Imperfecta
|
Brittle bone disease failure of collagen I
|
|
|
Ehlers-Danlos IV
|
Failure of collagen III, weakness in veins and elastic tissue
|
|
|
Alport Syndrome
|
Collagen IV failure resulting in kidney disease
|
|
|
Hurler Syndrome
|
an increase in the two glycosaminoglycans (GAGs) dermatan sulfate or heparan sulfate in the connective tissue; it is also called
|
|
|
|
mucopolysaccharidosis I since GAGs used to be called mucopolysaccharides; it is a genetic disorder, a LSD, due to a deficiency of the enzyme iduronidase. Dermatan sulfate is important in CT of skin, blood vessels, heart valves. Heparan sulfate is important in the basal lamina and as a cell surface GAG (see syndecan). It is marked by hepatosplenomegaly, dwarfism, and unique facial features (hence also called gargoylism).
|
|
|
Lipoma
|
most common benign adipose tissue tumor; well-defined, soft, painless, masses of mature adipocytes usually found in the subcutaneous tissue of the back, thorax, and proximal parts of the upper and lower limbs.
|
|
|
Keloids
|
the result of overgrowth of dense CT that usually develops after healing of a skin injury; they can be described as variations of typical wound healing; more collagen is produced than degraded and the scar grows in all directions. Myofibroblasts play a role by continued proliferation and remodeling beyond the boundaries of the original wound.
|
|
|
Multiple Myeloma
|
Sheets of malignant plasma cells are present in a bone marrow aspirate, plasma cells account for over 10% of cells in the aspirate; IgM spike occurs in 80-90% of cases
|
|
|
Anaphylaxis
|
� a life threatening allergic (type 1 immediate hypersensitivity) reaction. Occurs after ingestion, skin contact, injection of an allergen or inhalation. A process/event (see ppt) occurs leading to the degranulation of mast cells; skin appears red and edematous. Wheals of urtricaria or hives sometimes result
|
|
|
Soft tissue
|
a term used in pathology, soft tissue refers to the connective tissue structures tendons, ligaments, fascia, skin, any other collection of collagen fibers, fat, and synovium. Muscles, nerves, and blood vessels are also considered soft tissue. So, most everything, not being bone.
|
