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Which condition is characterized by the accumulation of glycogen within cells?
What primary issue is associated with Kartagener disorder?
Which of the following diseases is NOT a lysosomal storage disorder?
What problem is primarily associated with mitochondrial disorders?
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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?
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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?
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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?
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What causes deafness and peripheral neuropathy according to the mentioned conditions?
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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?
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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?
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In pathological conditions, how do macrophages respond when adequately stimulated?
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What characterizes Huntington chorea?
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Which of the following describes multiple sclerosis?
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Hydrocephalus is primarily caused by which of the following?
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What results from metaplasia in heavy smokers?
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What is a potential outcome of Kartagener syndrome?
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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?
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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?
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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?
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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?
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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?
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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.
