Notes in 03. Alterations in Structure

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Published	11/19/2024	Alterations in structure, function, or quantity of non-enzyme products include {{c1::Sickle Cell Disease}} and {{c2::Thalassemia}}.
Published	11/19/2024	Examples include structural alterations in {{c1::sickle cell anemia}} and reduced amounts of protein in {{c2::thalassemia}}.
Published	11/19/2024	Severe hemolytic reactions occur in patients with {{c1::G6PD deficiency}}.
Published	11/19/2024	Deletions or point mutations in collagen cause {{c1::Osteogenesis imperfecta}} and {{c2::Ehlers-Danlos syndromes}}.
Published	11/19/2024	Missense mutations in fibrillin cause {{c1::Marfan syndrome}}.
Published	11/19/2024	Deletion with reduced synthesis of dystrophin causes {{c1::Duchenne/Becker muscular dystrophy}}.
Published	11/19/2024	Heterogeneous mutations in spectrin, ankyrin, or protein 4.1 cause {{c1::Hereditary spherocytosis}}.
Published	11/19/2024	What is the main component of microfibrils affected in Marfan Syndrome? A. Elastin B. Collagen C. Fibrillin-1 D. Keratin
Published	11/19/2024	What results from the loss of structural support in microfibril-rich connective tissue in Marfan Syndrome? A. Decreased TGF-beta signaling B. Increase…
Published	11/19/2024	Which genetic mutations are associated with Marfan Syndrome? A. Mutations in the CFTR gene B. Mutations in the FBN1 and FBN2 genes C. Mutations in the…
Published	11/19/2024	What clinical manifestation is associated with gain-of-function mutations in the TGF-beta type II receptor? A. Osteogenesis imperfecta B. Marfan Syndr…
Published	11/19/2024	What is the role of fibrillin in the extracellular matrix? A. To form collagen fibers B. To serve as the major component of microfibrils and contribut…
Published	11/19/2024	What are the deleterious effects of excessive TGF-beta signaling in Marfan Syndrome? A. Enhanced muscle growth B. Improved immune response C. Inflamma…
Published	11/19/2024	How can angiotensin receptor II blockers benefit Marfan Syndrome patients? A. They increase collagen production. B. They reduce fibrillin synthesis. C…
Published	11/19/2024	What is a potential consequence of increased activity of metalloproteases in Marfan Syndrome? A. Enhanced muscle function B. Loss of extracellular mat…
Published	11/19/2024	What conditions are associated with Marfan Syndrome due to excessive TGF-beta signaling? A. Osteogenesis imperfecta and Ehlers-Danlos syndrome B. Cyst…
Published	11/19/2024	What is Marfan Syndrome?A. A genetic disorder affecting skin cellsB. A genetic disorder affecting connective tissueC. An infectious diseaseD. A metabo…
Published	11/19/2024	What are the skeletal abnormalities associated with Marfan Syndrome? A. Short stature and thick bonesB. Unusually tall stature, exceptionally long ext…
Published	11/19/2024	What are the cardiovascular lesions associated with Marfan Syndrome? A. Hypertrophic cardiomyopathyB. Mitral valve prolapse and dilatation of the asce…
Published	11/19/2024	What is the most life-threatening feature of Marfan Syndrome? A. Ocular changesB. Joint abnormalitiesC. Cardiovascular lesionsD. Skin abnormalities
Published	11/19/2024	What is the significance of family history in diagnosing Marfan Syndrome? A. Family history is not relevantB. Family history is taken into account asi…
Published	11/19/2024	What suggests about the joints in individuals with Marfan Syndrome? A. Joints are rigid and non-flexibleB. Joint ligaments in the hands and feet are l…
Published	11/19/2024	What is the main component involved in Ehlers-Danlos Syndrome (EDS)?A. CollagenB. ElastinC. KeratinD. Fibrin
Published	11/19/2024	Which of the following is NOT a complication of collagen defect in EDS?A. Rupture of colonB. Enlarged arteries seen in vascular EDSC. Ocular fragility…
Published	11/19/2024	Which of the following is a key sign or symptom of Ehlers-Danlos Syndrome? A. Stretchy skin that is soft or velvetyB. Rigid jointsC. Thick, tough skin…
Published	11/19/2024	Which other disease is associated with a collagen defect similar to EDS?A. Alport syndromeB. Marfan syndromeC. Epidermolysis bullosaD. A and C
Published	11/19/2024	What is a common feature of the skin in individuals with EDS? A. HyperextensibleB. HypoextensibleC. Thick and toughD. Brittle
Published	11/19/2024	Which of the following is a less common feature of EDS? A. Diaphragmatic hernia seen in classic EDSB. Hypermobile jointsC. Stretchy skinD. Frequent sc…
Published	11/19/2024	What is a common vascular complication in EDS? A. Enlarged arteriesB. Increased blood pressureC. Thickened arterial wallsD. Decreased blood flow
Published	11/19/2024	Which of the following is a key sign of EDS related to blood vessels? A. Delicate, small blood vesselsB. Thick, robust blood vesselsC. Increased blood…
Published	11/19/2024	What is a common joint-related symptom of EDS? A. Loose jointsB. Rigid jointsC. Painful jointsD. Swollen joints
Published	11/19/2024	What is the Beighton Scoring System used for? A. Measuring joint hypermobilityB. Diagnosing bone density issuesC. Assessing muscle strengthD. Evaluati…
Published	11/19/2024	In the Beighton Scoring System, what is the criterion for the thumbs? A. Touch the thumb to the forearmB. Extend the thumb outwardC. Bend the thumb ba…
Published	11/19/2024	How is the elbow assessed in the Beighton Scoring System? A. Extend the elbow beyond a normal straightened positionB. Flex the elbow as much as possib…
Published	11/19/2024	What is the criterion for the knees in the Beighton Scoring System? A. Extend the knee beyond a normal straightened positionB. Bend the knee as much a…
Published	11/19/2024	How is the spine assessed in the Beighton Scoring System? A. Bend forward and place hands flat on the floor without bending the kneesB. Extend backwar…
Published	11/19/2024	What genetic mutations are associated with Familial Hypercholesterolemia? A. LDLR gene B. ApoB geneC. BRCA1 geneD. HBB geneE. A and B
Published	11/19/2024	What are the components of VLDL?A. Cholesterol esters and TriglyceridesB. Proteins and WaterC. Vitamins and MineralsD. Carbohydrates and Proteins
Published	11/19/2024	What happens to VLDL in the bloodstream? A. It undergoes lipolysis to form IDL and then LDLB. It gets converted into glucoseC. It is stored in muscle …
Published	11/19/2024	What is the problem with Group 1 LDL receptor mutations? A. Lead to partial synthesis of LDL receptor proteinB. Lead to complete failure of synthesis …
Published	11/19/2024	What is a common issue with Group 2 LDL receptor mutations? A. They bind LDL too tightlyB. They transport LDL receptors to the cell surfaceC. They enc…
Published	11/19/2024	What is the main defect in Group 2 LDL receptor mutations? A. Folding defects make it impossible for them to be transported to the Golgi ComplexB. The…
Published	11/19/2024	What do Group 3 LDL receptor mutations affect? A:A. LDL receptor synthesisB. LDL receptor degradationC. The ApoB binding site of the receptorD. The nu…
Published	11/19/2024	What is a consequence of Group 3 LDL receptor mutations? A. Mutant LDL receptors reach the cell surface but fail to bind LDLB. Mutant LDL receptors ac…
Published	11/19/2024	What problem is associated with Group 4 mutations in LDL receptors?A. ClusteringB. BindingC. SynthesisD. Transport
Published	11/19/2024	What is the main issue with Group 5 mutations in LDL receptors? A. SynthesisB. RecyclingC. BindingD. Transport
Published	11/19/2024	What is the result of Group 6 mutations in LDL receptors? A. Failure of initial targeting to the basolateral membraneB. Failure of synthesisC. Failure…
Published	11/19/2024	What are the effects of heterozygous mutations in the LDLR gene? A. 50% remaining normal number of LDL receptors B. No remaining normal number of LDL …
Published	11/19/2024	What happens in homozygous mutations in the LDLR gene? A:A. No normal LDL receptor, leading to more increased LDL level and familial hypercholesterole…
Published	11/19/2024	What is the impact of mutations in the gene encoding ApoB? A. Reduces the binding of LDL molecules with LDL receptorB. Increases the binding of HDL mo…
Published	11/19/2024	What is the effect of activating mutations in the PCSK9 gene? A. Reduction in the number of LDL receptors on the surfaceB. Increase in the number of H…
Published	11/19/2024	Why are the groupings of mutations important? A. Useful in the development of drugs that lower plasma cholesterol by increasing the number of LDL rece…
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