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[h] Biochemistry Flashcards

[i] Master this session in just 5 minutes.

[q] ………… is the site of synthesis of secretory (exported) proteins and of N-linked oligosaccharide addition to many proteins.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJvdWdoIGVuZG9wbGFzbWljIHJldGljdWx1bS4=[Qq]

[q] Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells are rich in ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJFUi4=[Qq]

[q] …….. is the site of steroid synthesis and detoxification of drugs and poisons.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNtb290aCBlbmRvcGxhc21pYyByZXRpY3VsdW0u[Qq]

[q] Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex and gonads are rich in …….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNFUi4=[Qq]

[q] Absent or dysfunctional signal recognition particle (SRP) results in ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHByb3RlaW5zIGFjY3VtdWxhdGlvbiBpbiB0aGUgY3l0b3NvbC4=[Qq]

[q] What is the most likely diagnosis?

2 years old child presenting with coarse facial features, clouded corneas, restricted joint movement, claw hand deformities, kyphoscoliosis, and high plasma levels of lysosomal enzymes?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEktY2VsbCBkaXNlYXNlIChpbmNsdXNpb24gY2VsbCBkaXNlYXNlL211Y29saXBpZG9zaXMgdHlwZSBJSSku

SW5oZXJpdGVkIGx5c29zb21hbCBzdG9yYWdlIGRpc29yZGVyOyBkZWZlY3QgaW4gTi1hY2V0eWxnbHVjb3NhbWlueWwtMS1waG9zcGhvdHJhbnNmZXJhc2UgJiM4MjExOyZndDsgZmFpbHVyZSBvZiB0aGUgR29sZ2kgdG8gcGhvc3Bob3J5bGF0ZSBtYW5ub3NlIHJlc2lkdWVzIChtYW5ub3NlLTYtcGhvc3BoYXRlKSBvbiBnbHljb3Byb3RlaW5zICYjODIxMTsmZ3Q7IHByb3RlaW5zIGFyZSBzZWNyZXRlZCBleHRyYWNlbGx1bGFybHkgcmF0aGVyIHRoYW4gZGVsaXZlcmVkIHRvIGx5c29zb21lcy4=[Qq]

[q] What is the most likely diagnosis?

5 Years old child presenting with multiple fractures with minimal trauma + Blue sclerae +  Hearing loss + opalescent teeth that wear easily?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9zdGVvZ2VuZXNpcyBJbXBlcmZlY3RhLg==

R2VuZXRpYyBib25lIGRpc29yZGVyIChicml0dGxlIGJvbmUgZGlzZWFzZSkgY2F1c2VkIGJ5IGEgdmFyaWV0eSBvZiBnZW5lIGRlZmVjdHMgKG1vc3QgY29tbW9ubHkgQ09MMUExIGFuZCBDT0wxQTIpLg==

Most common form is autosomal dominant with ↓ production of normal type I collagen.

[q] What is the most likely diagnosis?

18 years old patient working in the circus presenting with hypermobile joints and very flexible body, hyperextensible skin and tendency to bleed (easy bruising)?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVobGVycy1EYW5sb3Mgc3luZHJvbWUu

RWhsZXJzLURhbmxvcyBzeW5kcm9tZSBpcyBhIGdyb3VwIG9mIHJhcmUgaGVyZWRpdGFyeSBkaXNvcmRlcnMgY2hhcmFjdGVyaXplZCBieSBkZWZlY3RpdmUgY29sbGFnZW4gc3ludGhlc2lzLg==

It can be caused by procollagen peptidase deficiency, which results in impaired cleavage of terminal propeptides in the extracellular space.

[q] What is the most likely diagnosis?

2 years old male child presenting with brittle, “kinky” hair, growth retardation, and hypotonia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1lbmtlcyBkaXNlYXNlLg==

WC1saW5rZWQgcmVjZXNzaXZlIGNvbm5lY3RpdmUgdGlzc3VlIGRpc2Vhc2UgY2F1c2VkIGJ5IGltcGFpcmVkIGNvcHBlciBhYnNvcnB0aW9uIGFuZCB0cmFuc3BvcnQgZHVlIHRvIGRlZmVjdGl2ZSBNZW5rZXMgcHJvdGVpbiAoQVRQN0EpLg==

Leads to ↓ activity of lysyl oxidase (copper is a necessary cofactor).

[q] ……… takes place extracellularly and gives elastin its elastic properties.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENyb3NzLWxpbmtpbmcu[Qq]

[q] Wrinkles of aging are due to ……. collagen and elastin production.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IOKGkyAoZGVjcmVhc2UpLg==[Qq]

[q] A congenital deficiency of ……….. results in excessive degradation of elastin in the lungs and liver, causing panacinar emphysema and cirrhosis, respectively.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IM6xMS1hbnRpdHJ5cHNpbi4=[Qq]

[q] What is the most likely diagnosis?

25 years old patient presenting with Tall with long extremities, tall tapering fingers; pectus carinatum, Subluxation of lenses upward and temporally?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1hcmZhbiBzeW5kcm9tZS4=

[q] The cardiovascular lesions are the most potentially life-threatening in patient with marfan syndrome. The two most common cardiac abnormalities are ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IG1pdHJhbCB2YWx2ZSBwcm9sYXBzZSBhbmQgY3lzdGljIG1lZGlhbCBkZWdlbmVyYXRpb24gb2YgdGhlIGFvcnRhLg==[Qq]

[q] What is the most likely diagnosis?

2 years old child presenting with recurrent sinopulmonary infections, chronic ear infections, conductive hearing loss, and situs inversus (dextrocardia on CXR)?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEthcnRhZ2VuZXIgc3luZHJvbWUgKDHCsCBjaWxpYXJ5IGR5c2tpbmVzaWEpLg==[Qq]

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