Welcome
SMS has joined the chat.
[SMS] hi
[ppliutcm] hi
[ppliutcm] what you guys chat today>
[SMS] biochem
[SMS] hi Ammu
[Ammu] hi
[ppliutcm] good
[SMS] lets start?
[Ammu] ok
[ppliutcm] go head. i'm unprepared.
[SMS] infant present with hypotonia,mile stones delay,spaticity..what is this?
[ppliutcm] ca def
[SMS] any lysosomal dis?
[SMS] defect is sphingolipid metab
[ppliutcm] ok
[SMS] types of sphingolipidoses?
[Ammu] tay sachs,gaucher,Neimann pick
[SMS] ys
[ppliutcm] all those are AR
[SMS] good point
[Ammu] enzyme defects
masood99 has left the chat.
[SMS] glycogen storage dis..
[SMS] also all AR ?
[SMS] types of glycogen sto dis?
[ppliutcm] von gierke's, pompe's, cori's, McArdle's.
[Ammu] VonGierkes,pompes,
[Ammu] Her's
[SMS] Von Gierke( type I)-->defi of G-6-P,
[SMS] ys
[SMS] Pompe's(type II)
[Ammu] Type1 and Von
[SMS] pompe's with low IQ & cardiac defects
[ppliutcm] pompe's, lysosomal glucosidase def
[SMS] whats the defi?
[SMS] ys
[Ammu] 1,4 glucosidase
[ppliutcm] pompe's trashes the pump.
[SMS] deposition of abnormal glycogen-->forbe's
[SMS] exercise causes myoglobinuria...what is this?
[SMS] its McArdle's...myophosphorylase defi
[ppliutcm] ok
[SMS] exposure to sunlight-->blisters,bullae..?
[Ammu] cut tarda
[Ammu] erythrop porphyria
[SMS] ys
[SMS] C/P of ac intermittant porphria?
[Ammu] abd pain,depression
[SMS] constipation,abd pain,delerium,confusion
[SMS] ys
[ppliutcm] pink urine
[SMS] factors whic can precipitate this cond?
[Ammu] hormones,
[SMS] most imp drug...barbi.
[SMS] ys
[SMS] alcohol
[SMS] sulphonamides
[ppliutcm] SCID cause of?
[SMS] T & B cells dec
[ppliutcm] ADA dif
[Ammu] adenosine deaminase def
[SMS] adenosine defi
[SMS] its X Linked recessive
[ppliutcm] ok
[SMS] pt may present with recurrent infect
[SMS] diarrhea
[SMS] pulm infect
[SMS] usu children...3-6 mths
[SMS] ok
[SMS] maple syrup urine dis...whats the defi?
[SMS] C/P?
[Ammu] fruity odour
[Ammu] bca defect
[ppliutcm] what bca?
[SMS] poor feeding & vomiting in first wk of life...
[Ammu] branched chain
[SMS] branced chain aa
[SMS] ys
[ppliutcm] thanks
[ppliutcm] whatis Heinz body?
[SMS] denatured Hb
[Ammu] in g6PD def
[ppliutcm] yes
[SMS] bec of oxidative damage
[SMS] may present in G-6PD defi
[ppliutcm] x-linked recessive
[SMS] which is intrinsic red cell enz
[SMS] ys
[SMS] what r the drugs u should avoid in this defi?
[SMS] G-6PD defi?
[Ammu] trimetho,pyrimeth,
[SMS] ys..why this dis is less svere in Africans?
[ppliutcm] ?
[SMS] I think..sickle Hb genes have AR trait in Africans
[SMS] so cells RBCs r able to survive in O2 stress
[ppliutcm] ok, thanks.
[ppliutcm] albinism, what dif?
[Ammu] tyrosiase
[ppliutcm] def?
[SMS] fine hair,lense dislocations,jt enlargement..what defi?
[Ammu] tyrosinase
[ppliutcm] or def tyrosien transporters
[SMS] ok
[SMS] my Q's ans is dis of methionine metabolism
[SMS] homocytinurea
[Ammu] cystathionine
[SMS] ys
[Ammu] b synthase
[SMS] non-hemolytic hyperbilirubinemia...what is this?
[SMS] dis?
[Ammu] gilbert
[SMS] ys..gilbert & crigler both..
[Ammu] criggler najar
[SMS] but whats the duff feature here?
[Ammu] gilbert-no symptoms
[SMS] criggler-->conjugated bilirubin is absent in serum while in gilbert-->unconjugated
[Ammu] criggler-severe
[SMS] ys
[Ammu] both are unconjugated
[ppliutcm] Lesch-Nyhan what def?
[Ammu] HGPRT
[ppliutcm] rt
[SMS] xanthalesmas...cause?
[Ammu] HYPERCHOLESTROLEMIA
[SMS] in Lesch-->self mutilation
[SMS] ys ammu
[SMS] these r lipid containing macrophages in dermis
[SMS] feature of hyperlipidemia
[ppliutcm] good! thanks.
[SMS] first enz in glycolysis pathway?
[SMS] in non-hepatic & hepatic tissues?
[ppliutcm] glucokinase liver
[ppliutcm] hexokinase muscle
[SMS] in nonhep-->hexokinase,in hepatic-->glucokinase
[SMS] ys
[SMS] types of mutations?
[ppliutcm] silent
[ppliutcm] missense
[ppliutcm] nosense
[ppliutcm] frame shift
[SMS] ys
[SMS] example of frameshift?
[Ammu] have to go
[Ammu] bye
[ppliutcm] bye ammu
[SMS] thanks for the great discussion Ammu
[SMS] Bye
[SMS] see you on monday for genetics
Ammu has left the chat.
[SMS] ok,I think framesh..alpha & beta thall. ,cystic fibrosis..
[SMS] I have to leave too..
[ppliutcm] ok thanks SMS
[SMS] see you on Monday for Genetics..

Does anyone know how to view the chat trascript so that I can see just the chat as opposed to all of the formatting characters?

Thanks a lot for your help.