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[h] Biochemistry Flashcards

[i] Master this session in just 5 minutes.

[q] Achondroplasia is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Hereditary spherocytosis is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Huntington disease is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Marfan syndrome is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Neurofibromatosis type 1 (von Recklinghausen disease) and Neurofibromatosis type 2

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Cystic fibrosis is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] Hemochromatosis is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] Phenylketonuria is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] Sickle cell anemia and Thalassemia are examples of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] What is the most likely diagnosis?

5 years old Caucasian child presenting with Recurrent sinopulmonary infections, Nasal polyps, clubbing of nails + Sweat chloride test showing chloride levels above 60 mM/L?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEN5c3RpYyBmaWJyb3Npcy4=[Qq]

[q] ………. mutation causes abnormal protein folding and failure of glycosylation. The CFTR protein is degraded before it reaches the cell surface, causing its complete absence from the apical membrane of exocrine ductal epithelial cells.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENGVFIgZ2VuZSBvbiBjaHJvbW9zb21lIDcu

[Qq]

[q] The most commo organism to be isolated from cystic fibrosis patient in early infancy is ………… and in adolescence is ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFMgYXVyZXVzLCBQLiBhZXJ1Z2lub3NhLg==

[q] Almost all male patients with cystic fibrosis have obstructive azoospermia from ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGNvbmdlbml0YWwgYmlsYXRlcmFsIGFic2VuY2Ugb2YgdGhlIHZhcyBkZWZlcmVucy4gVGhlIHZhcyBkZWZlcmVucyBmYWlscyB0byBkZXZlbG9wIGR1ZSB0byBhY2N1bXVsYXRpb24gb2YgaW5zcGlzc2F0ZWQgbXVjdXMgaW4gdGhlIGZldGFsIGdlbml0YWwgdHJhY3QsIHJlc3VsdGluZyBpbiBpbmZlcnRpbGl0eS4=[Qq]

[q] Meconium ileus is distal small bowel obstruction in a neonate due to abnormally dehydrated meconium is quite specific for ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGN5c3RpYyBmaWJyb3NpcyAoQ0YpLg==[Qq]

[q] Normal levels of ……….. and its metabolite, retinoic acid, are required to maintain orderly differentiation of specialized epithelia, including mucus-secreting columnar epithelium. When a deficiency state exists, the epithelium undergoes squamous metaplasia to a keratinizing epithelium.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHZpdGFtaW4gQS4=[Qq]

[q] G6PD deficiency, Hemophilia A and, and Duchenne (and Becker) muscular dystrophy are examples of ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFgtbGlua2VkIHJlY2Vzc2l2ZSBkaXNvcmRlcnMu[Qq]

[q] What is the most likely diagnosis?

4 years old male child presenting with Walking difficulties, Clumsy, slow, waddling gait; cannot keep up with peers + Progressive weakness in proximal musculature, resulting in use of the hands to support weight on standing + bilateral Calf pseudohypertrophy + ↑ CK and aldolase?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IER1Y2hlbm5lIG11c2N1bGFyIGR5c3Ryb3BoeSAoRE1EKS4=

Jm5ic3A7

[Qq]

[q] Duchenne muscular dystrophy (DMD) is typically due to ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGZyYW1lc2hpZnQgb3Igbm9uc2Vuc2UgbXV0YXRpb25zIOKGkiB0cnVuY2F0ZWQgb3IgYWJzZW50IGR5c3Ryb3BoaW4gcHJvdGVpbiDihpIgcHJvZ3Jlc3NpdmUgbXlvZmliZXIgZGFtYWdlLg==[Qq]

[q] ………. is X-linked disorder typically due to non-frameshift deletions in dystrophin gene (partially functional instead of truncated). Less severe than Duchenne. Onset in adolescence or early adulthood.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEJlY2tlciBtdXNjdWxhciBkeXN0cm9waHku

Jm5ic3A7

[Qq]

[q] What is the most likely diagnosis?

15 years old patient who is unable to release the hand after a handshake (grip myotonia), muscle wasting, cataracts, testicular atrophy, frontal balding, and arrhythmia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE15b3RvbmljIHR5cGUgMS4gQ1RHIHRyaW51Y2xlb3RpZGUgcmVwZWF0IGV4cGFuc2lvbiBpbiB0aGUgZHlzdHJvcGhpYSBteW90b25pY2EgcHJvdGVpbiBraW5hc2UgZ2VuZSAoRE1QSykgZ2VuZS4gQw==YXRhcmFjdHMsIA==[Qq]Toupee (early balding in men), Gonadal atrophy.

[q] What is the most likely diagnosis?

16 years old patient presenting with moderate mental retardation, severe language delay and aggressiveness + large jaw, large protruding ears, long thin face and prominent forehead and macroorchidism?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZyYWdpbGUgWCBzeW5kcm9tZS4gVHJpbnVjbGVvdGlkZSByZXBlYXQgZXhwYW5zaW9uIFsoQ0dHKW5dIG9jY3VycyBkdXJpbmcgb29nZW5lc2lzLiBUaGUgaW5jcmVhc2VkIG51bWJlciBvZiB0cmludWNsZW90aWRlIHJlcGVhdHMgY2F1c2VzIGh5cGVybWV0aHlsYXRpb24gb2YgdGhlIEZNUjEgZ2VuZSBsZWFkaW5nIHRvIGdlbmUgaW5hY3RpdmF0aW9uLg==

[q] Trinucleotide repeat expansion diseases may show ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFudGljaXBhdGlvbiAoZGlzZWFzZSBzZXZlcml0eSDihpEgYW5kIGFnZSBvZiBvbnNldCDihpMgaW4gc3VjY2Vzc2l2ZSBnZW5lcmF0aW9ucyku

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