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33 Cards in this Set
- Front
- Back
Osteomalacia:
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Cause:
-Vitamin D deficiency in adults. Symptoms: -Softening of the bones due to defective bone mineralization |
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Rickets
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Cause:
-Deficiency of either Vitamin D, calcium, or phosphate in children. Pathogenesis: -Poor bone calcification Symptoms: -Softening of bones that can lead to deformities and fractures. |
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Paget's disease of the bone
aka Osteodystrophia deformans |
Cause:
Viral or genetic. Pathogenesis: Abnormal bone remodeling where osteoid production is more rapid than mineralization. Symptoms: Bone shape changes with time, and can become either weak or abnormally thick. |
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Osteoporosis
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Cause:
Calcium deficiency Pathogenesis: Osteoclast activity (bone resorption) exceeds osteoblast activity (bone formation) Symptoms: Weak bones due to poor low mineral content in bone, and net loss of bone from the body. |
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Osteoarthritis
& Rheumatoid arthritis |
Cause:
-Autoimmune disease for rhematoid arthritis -mechanical stress and aging for osteoarthritis Pathogenesis: Complex... Symptoms: -inflammation and deterioration of joints |
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Dyskeratosis congenita
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Cause:
Genetic Pathogenesis: Poor telomerase maintenance Symptoms: Premature aging |
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Zellweger syndrome
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Cause:
Congenital Pathogenesis: Reduction or absence of peroxisomes means liver, kidney, and brain cells cannot beta-oxidize (break down) long chain fatty acids. Symptoms: Lack of myelination means nervous system is affected. The first signs include poor brain and muscle development. |
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I-cell disease
(Inclusion cell disease) |
Cause:
Genetic. Part of the Lysosomal Storage Disorder family (which includes Tay-Sachs) Pathogenesis: Lack of Mannose-6-Phosphatase (M6P) means that the Golgi is unable to target lysosomal enzymes to lysosomes. This results in an accumulation of junk-filled lysosomes that are then exocytosed by the cell. These exocytosed bodies are called Inclusion bodies. Symptoms: All kinds of awfulness, but mostly failure to thrive and death during early childhood. |
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Pompe's disease
aka Glycogen Storage Disease type II |
Cause:
Genetic. It's a Lysosomal Storage Disorder. Pathogenesis: Lack of certain lysosomal enzyme prevents the breakdown of glycogen. Symptoms: Buildup of glycogen causes myopathy (weakening of muscle). Particularly myopathy of cardiac and skeletal muscle. |
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Leber's optic neuropathy
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Cause:
Maternal inheritance (mitochondrial disease). Pathogenesis: Mitochondria are unable to perform oxidative phosphorylation. Symptoms: Loss of vision |
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X-linked Adrenoleukodystrophy
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Cause: X-linked peroxisomal disorder
Pathogenesis: Disrupted fatty acid metabolism resulting in lack of myelin production Symptoms: Ataxia, seizures, auditory and visual degeneration |
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Tay-Sachs
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Cause: Lysosomal, Autosomal recessive inheritance resulting in lack of hexosaminaminidase A
Pathogenesis: Failure to break down fatty acids resulting in neural accumulation of gangliosides Symptoms: Muscle atrophy, lack of sensory function, paralysis |
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Cori's disease
aka Glycogen Storage Disease type III |
Cause:
Autosomal recessive metabolic disorder affecting glycogen breakdown. Pathogenesis: cannot de-branch glycogen, thus glucose cannot be released. Symptoms: -Failure to thrive -hypoglycemia -hepatomegaly -cardiomyopathy |
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Emery-Dreifuss muscular dystrophy
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Cause:
Genetic Pathogenesis: alleles that code for proteins found in the nuclear envelope are affected. Symptoms: Somehow the abnormal nuclear envelope leads to muscular dystrophy |
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Cranio-Lenticulo sutural dysplasia (CLSD)
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Cause:
Genetic disease involving COPII Pathogenesis: genetic defect leads to abnormal ER-to-Golgi trafficking, which leads to decreased Collagen. Symptoms: leads to skeletal defects including an elongated face. |
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Aminoglycoside associated deafness
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Cause:
maternal inheritance of mtRNA or mrRNA. Pathogenesis: Mutation in mitochondria causes increased susceptibility to the accumulation of certain antibiotics in the ear (i.e. increases ototoxicity). This kills sensory cells in ear. Symptoms: deafness |
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Hutchinson-Gilford Progeria Syndrome (HGPS)
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Cause:
Autosomal dominant inheritance of a mutated Lamin A gene Pathogenesis: The point mutation results in unusable Lamin A protein, which is used in the nuclear envelope. Symptoms: Accelerated aging (progeria) |
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Fragile X syndrome
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Cause:
expansion of a single trinucleotide (CGG) sequence on the X chromosome. Pathogenesis: a fragile X chromosome results in all kinds of defects... Symptoms: -mental retardation -elongated features |
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Patau Syndrome
aka Trisomy 13 aka Trisomy D |
Cause:
Trisomy of chromosome 13 Pathogenesis: complex Symptoms: -mental retardation -cleft palate -clenched fist -polydactyly |
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Thalassemia
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Cause:
Genetic. Frameshift or nonsense mutation in b globin gene. Pathogenesis: mutation results in truncated protein that then interferes with other chains. Symptoms: Anemia |
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Sickle Cell Anemia
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Cause:
Mutation in the b globin chain (glu->val). Autosomal recessive Pathogenesis: altered beta globin crystallizes out. RBCs get stuck in capillaries and lyse easily. Symptoms: Anemia |
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Spina bifida
|
Cause:
neural tube closure defect, associated with not enough folic acid during early pregnancy Pathogenesis: see above Symptoms: Anatomical defect of the lower spine. |
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Anencephaly
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Cause:
superior neural tube closure defect, associated with not enough folic acid during pregnancy Pathogenesis: see above Symptoms: no brain |
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Xeroderma pigmentosum
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Cause:
autosomal recessive Pathogenesis: DNA cross links from UV exposure cannot be repaired. Symptoms: Skin is super sensitive to light. High chance of skin cancer. |
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Down syndrome
aka trisomy 21 |
Cause:
Genetic. Three chromosome 21's Pathogenesis: Complex Symptoms: -Mental retardation -FLK |
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Edward's Syndrome
aka triomsy 18 |
Cause:
Genetic. Extra chromsome 18 Pathogenesis: complex Symptoms: Very low rate of survival due to severe heart and kidney defects, among other things. |
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Turner's Syndrome
|
Cause:
Part or all of an X chromosome is missing in females (in males this results in a nonviable embryo) Pathogenesis: complex Symptoms: -short stature -infertility -dampened sex characteristics such as small breasts |
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Triple X syndrome
aka trisomy X syndrome |
Cause:
Genetic. Trisomy X. Pathogenesis: complex Symptoms: -infertility -tall stature -slightly higher than average chance of mental retardation -otherwise normal development |
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Klinefelter's syndrome
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Cause:
Genetic. XXY sex chromosomes Pathogenesis: complex Symptoms: infertility |
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XYY syndrome
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Cause:
XYY chromosomes Pathogenesis: complex Symptoms: -increased odds of learning disability -otherwise typical male, including fertility |
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Duchenne muscular dystrophy
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Cause:
Recessive X-linked Pathogenesis: -Cytoskeleton of muscle fibers cannot bind to basal lamina. Stress of muscle contraction leads to muscle damage. Symptoms: -worsening muscular dystrophy, leading to death |
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Primary ciliary dyskinesia
aka Kartagener Syndrome |
Cause:
autosomal recessive genetic disorder Pathogenesis: -disorder causes defective dynein motor protein to be synthesized, which results in improper cilia function Symptoms: -lack of functional cilia means mucus is not moved efficiently, which leads to respiratory problems |
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Glycogen Storage Disease type V
aka McArdle's syndrome |
Cause:
autosomal recessive Pathogenesis: -genetic defect leads to myophosphorylase deficiency -myophosphorylase is needed to debranch glycogen in muscle cells. Symptoms: -Muscle weakness -Cramps |