Notes in L36 Bone & Joints Path 1

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Published	09/11/2023	What type of collagen makes up bone, skin, and tendon? {{c1::Type I}}
Published	09/11/2023	What type of collagen makes up skin and blood vessels? {{c1::Type III}}
Published	09/11/2023	What type of collagen is decreased in osteogenesis imperfecta type I?{{c1::Type I}}
Published	09/11/2023	Collagen Synthesis: After hydroxylation and glycosylation, hydrogen and disulfide bonds help form a {{c1::triple helix}} of collagen α chains (procoll…
Published	09/11/2023	Collagen Synthesis: Once in the extracellular space, cleavage of disulfide-rich terminal regions of procollagen by {{c2::procollagen peptidase}} forms…
Published	09/11/2023	Which collagen synthesis pathologies are associated with problems with cross-linking?{{c1::Ehlers-Danlos syndrome, Menkes disease::2}}
Published	09/11/2023	What genetic bone disorder is also known as brittle bone disease?{{c1::Osteogenesis imperfecta}}
Published	09/11/2023	Osteogenesis imperfecta is most commonly caused by gene defects in {{c1::COL1A1}} and {{c1::COL1A2}}
Published	09/11/2023	What is the inheritance of osteogenesis imperfecta (most common)? {{c1::Autosomal dominant}}
Published	09/11/2023	Osteogenesis imperfecta may be confused with {{c1::child abuse}}
Published	09/11/2023	Osteogenesis imperfecta is characterized by multiple recurrent {{c1::fractures}} with minimal trauma
Published	09/11/2023	{{c2::Osteogenesis imperfecta}} may present with {{c1::blue sclerae}} due to translucent connective tissue over choroidal veins
Published	09/11/2023	Osteogenesis imperfecta may present with {{c1::hearing loss}} due to abnormal ossicles
Published	09/11/2023	Some forms of osteogenesis imperfecta have tooth abnormalities, including opalescent teeth that wear easily due to lack of {{c1::dentin}}
Published	09/11/2023	The {{c1::classical}} type of Ehlers-Danlos syndrome (joint and skin symptoms) is caused by a mutation in type {{c2::V}} collagen
Published	09/11/2023	What type of Ehlers-Danlos syndrome is the most common type?{{c1::Hypermobility type (joint instability)}}
Published	09/11/2023	Ehlers-Danlos syndrome is characterized by faulty collagen synthesis causing {{c1::hyperextensible}} skin
Published	09/11/2023	Ehlers-Danlos syndrome is characterized by faulty collagen synthesis causing {{c1::hypermobile}} joints
Published	09/11/2023	Ehlers-Danlos syndrome may present with easy bruising and a tendency to {{c1::bleed}}
Published	09/11/2023	The classical and vascular forms of Ehlers-Danlos syndrome are inherited in an {{c1::autosomal dominant}} manner
Published	09/11/2023	{{c1::Marfan}} syndrome is caused by a defect in {{c2::fibrillin}}, a glycoprotein that forms a sheath around {{c3::elastin}}
Published	09/11/2023	{{c1::Marfan}} syndrome is due to a {{c2::FBN1}} gene mutation on chromosome {{c3::15}}
Published	09/11/2023	What protein is defective in Marfan syndrome?{{c1::Fibrillin (scaffold for elastin)}}
Published	09/11/2023	What pathology is associated with long, tapering fingers and toes (arachnodactyly) and subluxation of lenses?{{c1::Marfan syndrome}}
Published	09/11/2023	Marfan syndrome typically presents with subluxation of the lenses {{c1::upward::direction}} and {{c1::temporally::direction}}
Published	09/11/2023	Marfan syndrome is associated with a floppy {{c1::mitral}} valve
Published	09/11/2023	What is the mode of inheritance of Marfan syndrome?{{c1::Autosomal dominant}}
Published	09/11/2023	Aortic dissection is associated with inherited {{c1::connective tissue}} disorders
Published	09/11/2023	{{c2::Thoracic}} aortic aneurysm is associated with {{c1::cystic medial}} degeneration (e.g. Marfan syndrome)
Published	09/11/2023	Thoracic aneurysm is associated with inherited {{c1::connective tissue}} disorders
Published	09/11/2023	Mitral valve prolapse is caused by {{c1::myxoid}} degeneration of the valve, making it floppy
Published	09/11/2023	{{c1::Achondroplasia}} is the most common cause of dwarfism
Published	09/11/2023	{{c2::Achondroplasia}} is due to an {{c3::activating}} mutation in the {{c1::fibroblast growth factor receptor 3 (FGFR3)}} gene
Published	09/11/2023	What is the mode of inheritance of achondroplasia? {{c1::Autosomal dominant}}
Published	09/11/2023	What is the penetrance of achondroplasia? {{c1::100%}}
Published	09/11/2023	Is achondroplasia typically seen in patients with homozygous or heterozygous mutations?{{c1::Heterozygous (homozygous is lethal)}}
Published	09/11/2023	Over 85% of mutations in the FGFR3 gene occur {{c1::sporadically}} and are related to increased {{c2::paternal}} age
Published	09/11/2023	Constitutive activation of FGFR3 {{c1::inhibits::inhibit/activates}} chondrocyte proliferation
Published	09/11/2023	Achondroplasia is characterized by {{c2::short (rhizomelic)}} extremities with a relatively {{c1::large}} head
Published	09/11/2023	What type of bone formation is impaired in achondroplasia? {{c1::Endochondral ossification}}
Published	09/11/2023	Achondroplasia is characterized by failure of {{c1::longitudinal::not endochondral}} bone growth
Published	09/11/2023	What MSK pathology is associated with a space between the 3rd and 4th fingers ("trident hands")? {{c1::Achondroplasia}}
Published	09/11/2023	Does achondroplasia affect mental function, life span, and/or fertility?{{c1::No}}
Published	09/11/2023	{{c2::Osteopetrosis}} is caused by an inherited defect in bone {{c1::resorption}}
Published	09/11/2023	Osteopetrosis is due to poor osteo-{{c1::clast}} function, impairing the ability to {{c2::remodel}} bone
Published	09/11/2023	What MSK pathology is characterized by thick, heavy bone that fractures easily due to failure of bone resorption? {{c1::Osteopetrosis}}
Published	09/11/2023	Osteopetrosis is characterized by diffuse, symmetric skeletal {{c1::sclerosis}} on X-ray
Published	09/11/2023	{{c2::Osteopetrosis}} may occur due to {{c1::carbonic anhydrase II}} mutations, which leads to loss of the acidic environment necessary for bone resor…
Published	09/11/2023	Osteopetrosis is associated with {{c1::pancytopenia}} and extramedullary hematopoiesis due to bony replacement of the marrow (myelophthisic process)
Published	09/11/2023	Osteopetrosis may present with vision and hearing impairment due to {{c1::cranial nerve}} impingement
Published	09/11/2023	Osteopetrosis may present with hydrocephalus due to narrowing of the {{c1::foramen magnum}}
Published	09/11/2023	What is the treatment for osteopetrosis? {{c1::Bone marrow transplant (osteoclasts are derived from monocytes)}}
Published	09/11/2023	What valvular defects (2) are associated with Marfan syndrome?{{c1::aortic regurgitation and mitral valve prolapse}}
Published	09/11/2023	In {{c1::endochondral}} ossification, a {{c2::hyaline cartilage::specific}} model is first made by chondrocytes.
Published	09/11/2023	In {{c1::endochondral}} ossification, osteoblasts and osteoclasts replace cartilage with a matrix of {{c2::woven}} bone and then remodel to {{c3::lame…
Published	09/11/2023	{{c1::Endochondral}} ossification is defective in {{c2::achondroplasia}}.
Published	09/11/2023	What is the likely diagnosis in a patient with scoliosis, long fingers and toes, and upwards lens dislocation?{{c1::Marfan syndrome}}
Published	09/11/2023	Patients with the {{c1::vascular}} type of Ehlers danlos can present with damage to muscles and fragile tissues
Published	09/11/2023	What is the likely diagnosis in a patient with Marfan syndrome that presents with sudden-onset tearing chest pain? {{c1::Aortic dissection}}
Published	09/11/2023	What is the most common cause of death in Marfan syndrome patients? {{c1::Aortic dissection (presents with sudden-onset tearing chest pain)}}
Published	09/11/2023	Characteristics of {{c1::Ehlers-Danlos syndrome::genetic condition}}:- Hyperelasticity of skin- Joint hypermobility- Tendency towards bleeding
Published	09/11/2023	CLASSIC PRESENTATIONSClinical Presentation:"Elastic skin, hypermobility of joints, increased bleeding tendency"{{c1::"Ehlers-Danlos syndrome (type V c…
Published	09/11/2023	"Elastic skin, hypermobility of joints, increased bleeding tendency"{{c1::Ehlers-Danlos syndrome (type V collagen defect)Type III collagen defect seen…
Published	09/11/2023	Three associated cardiac problems with Marfan:{{c1::}}
Published	09/11/2023	Ascending aortic aneurysms are most often due to {{c1::cystic medial necrosis}} (due to aging) and {{c2::connective tissue disorders}}
Published	09/11/2023	Descending aortic aneurysms are usually due to underlying {{c1::atherosclerosis}}
Published	09/11/2023	Type {{c1::I}} collagen makes up scar tissue and dermis* bonus: what type makes up skin?
Published	09/11/2023	Aortic regurgitation murmurs due to {{c1::aortic root dilation}} are best heard at the {{c2::base (aortic area 2nd ICS)}}
Published	09/11/2023	Osteopetrosis may present with facial paralysis due to {{c1::cranial nerve VII}} impingement
Published	09/11/2023	Infantile malignant osteopetrosis is a(n) {{c1::autosomal recessive::inheritance pattern}} bone disorder that is often fatal in infancy…
Published	09/11/2023	Mild osteopetrosis is an {{c2::autosomal dominant::inheritance pattern}} "marble bone disease" that presents in {{c1::adolescence or ad…
Published	09/11/2023	What proteins compose the type 1 collagen triple helix (encoded by the COL1A2 & COL2A1 gene)? {{c1::2 alpha-1 chains & 1 a…
Published	09/11/2023	What is the likely diagnosis in a stillborn fetus with multiple limb fractures and a hypoplastic thoracic cavity?{{…
Published	09/11/2023	Osteopetrosis may present with vision loss due to {{c1::optic nerve}} impingement
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