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Questions and Answers
Which condition is characterized by the accumulation of glycogen within cells?
Which condition is characterized by the accumulation of glycogen within cells?
What primary issue is associated with Kartagener disorder?
What primary issue is associated with Kartagener disorder?
Which of the following diseases is NOT a lysosomal storage disorder?
Which of the following diseases is NOT a lysosomal storage disorder?
What problem is primarily associated with mitochondrial disorders?
What problem is primarily associated with mitochondrial disorders?
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Which condition is specifically known for causing loss of dopaminergic neurons?
Which condition is specifically known for causing loss of dopaminergic neurons?
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What type of cellular damage is most commonly associated with defective proto-oncogenes?
What type of cellular damage is most commonly associated with defective proto-oncogenes?
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Which of the following conditions is associated with chronic respiratory infections due to ciliary dysfunction?
Which of the following conditions is associated with chronic respiratory infections due to ciliary dysfunction?
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What is a primary effect of Celiac disease on the small intestine?
What is a primary effect of Celiac disease on the small intestine?
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Which condition is a result of excessive lysis of red blood cells?
Which condition is a result of excessive lysis of red blood cells?
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Which bacterium is known to cause gastric ulcers and disrupt tight-junction proteins?
Which bacterium is known to cause gastric ulcers and disrupt tight-junction proteins?
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What causes deafness and peripheral neuropathy according to the mentioned conditions?
What causes deafness and peripheral neuropathy according to the mentioned conditions?
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What is the role of myofibroblasts in wound healing?
What is the role of myofibroblasts in wound healing?
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Which of the following diseases is characterized by the accumulation of Glycosaminoglycans?
Which of the following diseases is characterized by the accumulation of Glycosaminoglycans?
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What does Clostridium bacteria cause in relation to intestinal health?
What does Clostridium bacteria cause in relation to intestinal health?
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Which cell type primarily contributes to tissue repair following connective tissue injury?
Which cell type primarily contributes to tissue repair following connective tissue injury?
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In pathological conditions, how do macrophages respond when adequately stimulated?
In pathological conditions, how do macrophages respond when adequately stimulated?
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What characterizes Huntington chorea?
What characterizes Huntington chorea?
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Which of the following describes multiple sclerosis?
Which of the following describes multiple sclerosis?
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Hydrocephalus is primarily caused by which of the following?
Hydrocephalus is primarily caused by which of the following?
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What results from metaplasia in heavy smokers?
What results from metaplasia in heavy smokers?
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What is a potential outcome of Kartagener syndrome?
What is a potential outcome of Kartagener syndrome?
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AIDS dementia complex results from which specific action of HIV-1?
AIDS dementia complex results from which specific action of HIV-1?
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Bladder metaplasia is characterized by a transformation from which type of epithelium?
Bladder metaplasia is characterized by a transformation from which type of epithelium?
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What is a defining feature of adenocarcinomas?
What is a defining feature of adenocarcinomas?
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What condition is characterized by an autoimmune response against acetylcholine receptors primarily affecting the extraocular muscles?
What condition is characterized by an autoimmune response against acetylcholine receptors primarily affecting the extraocular muscles?
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Which condition results from a defect in the dystrophin gene, affecting muscle tissue?
Which condition results from a defect in the dystrophin gene, affecting muscle tissue?
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What is the main cause of lung emphysema related to α1-antitrypsin deficiency?
What is the main cause of lung emphysema related to α1-antitrypsin deficiency?
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Which of the following conditions is marked by an imbalance in skeletal turnover where resorption exceeds formation?
Which of the following conditions is marked by an imbalance in skeletal turnover where resorption exceeds formation?
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What condition is described by overgrowth of granulation tissue which is eventually replaced by collagen type I?
What condition is described by overgrowth of granulation tissue which is eventually replaced by collagen type I?
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Which of the following conditions involves a defect in bone resorption leading to dense heavy bones?
Which of the following conditions involves a defect in bone resorption leading to dense heavy bones?
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What condition is characterized by a significant reduction in intercellular water content in the cartilage matrix due to chondrocyte activity?
What condition is characterized by a significant reduction in intercellular water content in the cartilage matrix due to chondrocyte activity?
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What is the primary characteristic of rickets in children?
What is the primary characteristic of rickets in children?
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Study Notes
Lysosomal Storage Disorders
- Lysosomal glycogen storage disease: accumulation of glycogen. Degenerative disease of the Central Nervous System
- Tay-Sachs: loss of optic nerve fibers, several neural degenerations
- Accumulation of large amounts of liquids
Mitochondrial Disorders
- Mitochondrial myopathy: degenerative disease of the brain's white matter
- Metabolic disturbances and accumulation of lactic acid
- All are maternally inherited
- MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes)
- MERRF (Myoclonic Epilepsy with Ragged Red Fibers):
Proteosome Disorders
- Alzheimer's disease and Huntington's disease are closely related to the accumulation of proteins inside the cell due to the failure of degeneration by protesomes
Defective Peroxisomal Proteins
- Adrenoleukodystrophy: destroys the myelin sheaths in nerves
Kartagener
- Defect in microtubules (dynein arm mutations) leads to immotile spermatozoa, male infertility and frequent respiratory infections
Hemochromatosis
- Accumulation of iron in hemosiderin
- Hemosiderosis: excessive lysis of red blood cells
### Parkinson's Disease
- Degenerative disease caused by the loss of dopaminergic neurons from the brain's substantiated nigra
Huntington's Chorea
- Hereditary disease caused by the loss of basal ganglia neurons
Multiple Sclerosis
- Disease of the Central Nervous System
- Characterized by a loss of myelin and plaque formation
- Leukocytes (T cells) initiate an inflammatory response
- Loss of Oligodendrocytes and axon demyelination
Guillain–Barré Syndrome
- Autoimmune syndrome of the Peripheral Nervous System
- Immune destruction of Schwann cells results in demyelination and axonal degeneration
Hydrocephalus
- Decrease in the absorption of Cerebrospinal Fluid (CSF) or blockage of outflow from the ventricles leading to an enlarged head
- Mental impairments are possible
AIDS Dementia Complex
- HIV-1 infection of the Central Nervous System
- Infection of microglia
- Replication of HIV-1 in microglia
Metaplasia
- Transformation of one type of epithelial tissue to another
- Respiratory epithelium in heavy smokers can be transformed to stratified squamous epithelium
- Transformation of transitional to squamous epithelium in the bladder
Barrett Esophagus
- In cases of chronic acid reflux, the esophagus is replaced by glandular mucus-secreting epithelium
Epithelial Cell Tumours
- Carcinomas: malignant tumor from surface epithelia
- Adenocarcinomas: malignant tumor from glandular epithelium
Polycystic Kidney Disorder
- Loss of microvilli (brush border) in the small intestine caused by an immune reaction against the wheat protein gluten
Celiac Disease
- Enterotoxin from Clostridium bacteria causes food poisoning
- Enterotoxin binds claudine, resulting in the disruption of tight junctions, diarrhea and intestinal ulcers
Pemphigus vulgaris
- Production of antibodies against the desmosomal proteins leading to widespread skin and mucous membrane blistering
Helicobacter Pylori
- Causes gastric ulcers
- Binds to the extracellular domains of tight junction proteins
Mutation in Connexin Genes
- Causes deafness and peripheral neuropathy
Macrophages in pathological conditions
- When adequately stimulated, they grow and arrange in clusters forming epithelioid cells
- Several may fuse to form multinuclear giant cells
Regenerative Capacity of Connective Tissue
- The spaces left after injury are filled by connective tissue which doesn't divide and forms a scar
- Fibroblasts are the main cell type involved in repair
- Myofibroblasts are responsible for wound contraction
Myeloma
- Multiple Myeloma: tumor of plasma cells in the bone marrow due to accumulation of myeloma cells
Hurler Syndrome
- Accumulation of Glycosaminoglycans
- Accumulation of mucopolysaccharides
Hunter Syndrom
- Accumulation of mucopolysaccharides
Marfan Syndrome
- Defect in fibrillin-1, a protein involved in connective tissue formation.
Duchenne Muscular Dystrophy
- Mutations of the dystrophin gene leading to defective linkages between the cytoskeleton and the extracellular matrix
### Lung Emphysema
- Defect in α1-antitrypsin leads to increased elastase activity
- Elastase damages lung alveoli due to the loss of supporting elastic fibers
Myasthenia Gravis
- Autoimmune disorder that involves circulating antibodies against proteins of acetylcholine receptors
- The extraocular muscles of the eyes are commonly the first affected
Keloid
- Overgrowth of granulation tissue (collagen III) at the site of a healed skin injury which is slowly replaced by collagen type 1
Osteoarthritis
- Degenerative joint disease, reduction of proteoglycan results in reduced intracellular water content in the cartilage matrix, chondrocytes stimulate metalloproteinases which inhibits type II collagen and proteoglycans.
Osteopetrosis
- Dense heavy bones caused by a lack of osteoclastic activity leading to a defect in bone resorption
Osteoporosis
- Imbalance in skeletal turnover, bone resorption exceeds bone formation
- This can be caused by immobilization or postmenopausal women
Osteosarcomas
- Malignant osteoblasts located in the periosteum
Osteomalacia
- Softening of adult bone due to calcium deficiency
- Results in bone fragility and pain
Rickets
- Calcium deficiency in children
- Characterized by bone deformities
Paget Disease
- Increased activity of osteoblasts and osteoclasts leading to weaker than normal bone
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Description
This quiz covers various genetic metabolic disorders, including lysosomal storage disorders, mitochondrial disorders, proteosome disorders, and defective peroxisomal proteins. Each topic delves into specific conditions like Tay-Sachs, MELAS, and adrenoleukodystrophy, providing insight into their characteristics and implications. Test your knowledge on these complex genetic conditions and their impact on health.
