chat transcript - Genetics

[Anonymous]

20:55:37 Lorena enters this room

21:00:52 Step_1 enters this room

21:00:53 >[Step_1] Welcome to our chat. Please obey the net etiquette while chatting: try to be pleasant and polite.

21:01:06 [Lorena] hi step 1

21:01:15 [Lorena]

21:01:16 [Step_1] hi lorena. welcome back. how was your trip?

21:01:38 [Lorena] great! thank you

21:02:19 [Lorena] how is your studying going?

21:03:04 [Step_1] its going ok. these sessions keep me on track . How about you?

21:03:44 [Lorena] yes, to tell you r truth , genetics is one of my weak areas

21:04:33 sassy enters this room

21:04:35 [Step_1] i dont think its too heavily tested, but good to know the high yield stuff

21:04:44 hutals enters this room

21:05:04 [Step_1] hi sassy and hutals

21:05:05 [Lorena] welcome hutals and sassy

21:05:13 sassy exits from this room

21:05:17 [hutals] hi there

21:06:07 [Step_1] looks like sassy somehow ended up in the general chat room?

21:06:44 acestep1 enters this room

21:07:00 [Lorena] yes, i hope he comes back

21:07:01 svaious enters this room

21:07:06 [Step_1] hi ace

21:07:12 [Lorena] hi acestep , nice to see you

21:07:14 [acestep1] hi everyone

21:07:21 [acestep1] hi step1

21:07:26 [Step_1] hi there svacious

21:07:31 [acestep1] same here lorena

21:07:32 [Lorena] we can st now if you wish

21:07:35 [acestep1] s ur trip

21:07:51 [svaious] Hi evrybody!

21:07:54 [acestep1] how was ur trip

21:07:59 [Lorena] it was great, thank you!

21:08:01 [acestep1] hi

21:08:17 [svaious] HI step1

21:08:18 hutals exits from this room

21:08:23 [acestep1]

21:08:25 [Lorena] welcome svaious

21:08:40 [acestep1] mention not

21:08:43 sassy enters this room

21:08:53 [svaious] thanx Lorena...Ive joined a couple of these discussions

21:09:07 [svaious] while u were gone..they're really helpful

21:09:26 [acestep1]

21:09:32 [Lorena] great! i am glad you are with us today too

21:10:04 [Lorena] ok guys, let's start

21:10:14 [svaious] ok

21:10:22 [Step_1] ready lorena

21:10:24 [acestep1] sure

21:10:36 hutals enters this room

21:10:44 [Lorena] more than ready!

21:10:58 [acestep1]

21:11:11 [hutals] sorry, was trying to guide neurodoc over here.....he's having trouble

21:11:14 neurodoctor_75 enters this room

21:11:28 [acestep1] np hutals

21:11:30 [Lorena] welcome neurodoc

21:11:38 [neurodoctor_75] hello

21:11:45 [Step_1] hi neuro

21:11:52 [acestep1] hi neuro

21:11:53 [neurodoctor_75] finally im here

21:12:01 [neurodoctor_75] hi

21:12:17 [neurodoctor_75] thanx step 1

21:12:29 [Lorena] In a pedigree of an autosomal dominant inheritance whatwould be a raison of an skipped generation?

21:12:33 [acestep1]

21:12:53 [acestep1] incomplete penetrance

21:13:19 [Lorena] very good ace!

21:13:40 Rahat3256 enters this room

21:13:42 [acestep1] thnx

21:13:48 [Step_1] agree with ace

21:13:54 [acestep1] hi rahat

21:13:55 [Lorena] welcome rahat!

21:14:00 [Step_1] hi rahat

21:14:10 [acestep1]

21:14:18 [Step_1] which weeks to start amniocentesis and chorionic villous sampling?

21:14:27 [acestep1] oops i meant for step1

21:14:31 [Rahat3256] hiiii

21:14:37 [Lorena] yes step 1, both are right

21:14:45 [neurodoctor_75] hi rahat

21:14:49 [svaious] amniocentesis btw 16-20 weeks

21:14:53 [acestep1] ld guess

21:14:54 [Rahat3256] hi guys how r you all there

21:14:55 [svaious] CVS...9-12 weeks

21:15:03 [Rahat3256] i just got up

21:15:11 [Rahat3256] just be with you in 10 mins

21:15:34 [acestep1] we r all gd

21:15:40 [acestep1] k

21:15:42 [Step_1] in that case, good morning rahat

21:15:46 [Lorena] what is the anser step 1?

21:15:49 [acestep1]

21:15:54 [Lorena] answer

21:16:15 [Step_1] yes correct amnio is 16-20 weeks and CVS is 9-12 wks

21:16:25 [Lorena]

21:16:40 [neurodoctor_75] brb

21:16:44 [acestep1] k

21:16:58 [Step_1] alpha fetal protein......high or low in open neural tube defect? what about down syndrome?

21:17:30 [acestep1] high in open neural tube defects

21:17:33 [svaious] high in NTDs

21:17:38 [svaious] low in Downs

21:17:40 [acestep1] but low in downs i guess

21:18:08 juli enters this room

21:18:16 Valentina1 enters this room

21:18:20 [Step_1] correct. down tells you its low (down). and high in NTD. very good

21:18:31 squibble_fish enters this room

21:18:39 [acestep1]

21:18:41 [Lorena] great info

21:19:02 [Step_1] hi juli, valentina and squibble fish

21:19:09 [squibble_fish] hello everyone

21:19:15 [Lorena] welme juli, vaklentina and squibble

21:19:35 [Lorena] i meant welcome

21:19:39 [squibble_fish] hello

21:19:43 [acestep1] hi squibble

21:19:54 [squibble_fish] i enjoy studying about genetics

21:20:02 [Step_1] the other labs for downs are hCG and estiol.....which is high and which is low in downs?

21:20:22 [squibble_fish] i don't know

21:20:52 [acestep1] estiol - high ?

21:20:56 [Lorena] unconjugated estriol

21:20:58 [squibble_fish] i know how to play baseball

21:21:18 [svaious] hcg increased..estiol decreses

21:21:19 [juli] what is the topic now?

21:21:28 nimta49 enters this room

21:21:29 [Rahat3256] yah i am back

21:21:32 [juli] genetics?

21:21:35 [Step_1] hCG is high in downs and the unconjugated estriol is low

21:21:40 [squibble_fish] i have to go now. gooodbye everyone. i want to get home to my beautiful wife.

21:21:41 [Lorena] in what chapter is all that step 1?

21:21:49 [squibble_fish] study hard

21:21:50 [Step_1] yes juli...genetics

21:21:51 [acestep1] k

21:22:07 [Lorena] by squibble

21:22:14 [Step_1] i'm looking at genetics chapter from goljan

21:22:22 [acestep1] oh

21:22:33 [acestep1] but downs is v hy

21:22:43 [acestep1] good inf step1

21:22:51 [acestep1]

21:23:04 [Lorena] i see

21:23:07 [Step_1] i'll move to more tradition stuff if you want from kap lan genetics

21:23:36 [neurodoctor_75] thats right step 1

21:23:48 [Lorena] for my second reading i will get goljan then

21:24:06 [acestep1] ya me 2

21:24:16 [Lorena] no, it is good to know , thats the purpose of this discussion

21:24:22 [acestep1]

21:24:24 [Step_1] goljan has a pretty good chapter on genetics....highly recommended

21:24:31 [neurodoctor_75] r u talkin about the gol patho

21:24:52 [acestep1] oh ic . thnx step1

21:24:52 [Lorena] thank you step 1

21:25:04 [acestep1]

21:25:15 [neurodoctor_75] how about high yield

21:25:27 [Step_1] yes, goljan path covers almost every subject....very high yield

21:25:51 [Step_1] goljan also has high yield notes, but that is separate

21:25:55 [acestep1] k

21:26:02 schoolboy enters this room

21:26:02 [Lorena] difference of mutation in Duchenne and Becker?

21:26:20 [acestep1] ok what type of chromosomal abn is downs synd

21:26:27 [neurodoctor_75] i meant yh mol biol????

21:26:41 [acestep1] hmm dont remb lorena

21:26:58 [Lorena] down is a trisomy (chrom 21)in 95% of the cases

21:27:19 [acestep1] yes v gd lorena

21:27:23 [Lorena] in 4% is a robertsonian translocation

21:27:30 [Step_1] and translocation 4%

21:27:47 [acestep1] yes v gd step1

21:27:54 [Lorena] what about that 1% left?

21:28:05 [Step_1] duchenne's is x linked recessive

21:28:15 [acestep1] i think reciprocal in 95 % n 5 % robertsonian

21:28:34 [acestep1] tht was downs synd

21:28:40 [Step_1] i think that beckers is also x linked, but milder....not sure

21:28:47 [Lorena] it says so in the genetics part of the k nnotes

21:29:01 [acestep1] k

21:29:17 [acestep1] yes duchennes more common n severe

21:29:25 [Lorena] but in pathology says 1% due to mosaicism due to mtotic non disjunction in embrionesys

21:29:52 [svaious] in Duchenes there is no dystrophin

21:30:03 [acestep1] yes

21:30:08 [svaious] ib Beckers..it is either reduced or abnormal?

21:30:13 [acestep1] ur right lorena

21:30:30 [acestep1] k. thnx savious

21:30:31 [Step_1] i have that too....downs...95% trisomy, 4% translocation and 1% mosaicism

21:30:41 [Lorena] you are all right, Duchenne is more severe

21:30:57 usmilez enters this room

21:31:19 [Lorena] the type of mutation induchenne is a framepooh pooh mutati

21:31:39 [Lorena] in becker is in frame mutation

21:32:19 [Rahat3256] which one is severe

21:32:23 [Lorena] thats why Becker is milder

21:32:25 [Step_1] good point lorena....missed that one

21:32:42 [Step_1] looking at a pedigree where father passes dz to no children, mother passes to all children (boys and girls). from those affected, still only girls pass to all children and dad to none. which inheritance?

21:32:43 [svaious] DMD is the severe one

21:33:03 [Lorena] mitochondrial

21:33:05 saima1 enters this room

21:33:40 [acestep1] x linked

21:33:40 [saima1] hi room

21:33:49 [acestep1] hi

21:34:00 [acestep1] x linked- dominant

21:34:02 [Step_1] yes, its mitochondrial inheritance because sperm do not have mitochondria

21:34:12 [Step_1] hi saima

21:34:22 [acestep1] oops

21:34:22 [svaious] good one

21:34:31 nimta49 enters this room

21:34:33 [Lorena] yes, good one step 1

21:34:35 [acestep1] so sorry step1

21:34:48 [acestep1] yes v gd q

21:35:00 [Step_1] thats ok ace....now you know it

21:35:05 [Step_1] thx

21:35:27 [acestep1] yes

21:35:36 [acestep1] thnx

21:35:47 [Lorena] what is a clastogen?

21:37:00 [Step_1] cause breaks in chromosomes

21:37:02 [acestep1] thinngs tht cause breakage of chromosomes- radiation , viruses n chemicals

21:37:15 [Lorena] yeeesss

21:37:29 [Rahat3256] A clastogen is any substance which causes chromosomal breaks.

21:37:46 [neurodoctor_75] clastosis means break in to parts

21:37:55 [Lorena] good job guys

21:38:10 [Rahat3256] thank you lorena

21:38:23 [acestep1]

21:38:48 [Step_1] newborn with trisomy 21 hs cardiovasc defects involving ASD and VSD. where is the defect? hint: neural crest origin.

21:38:48 [Lorena] function of gene XIST?

21:39:22 [acestep1] endocardial cushions

21:39:49 [acestep1] n xist- x chromo inactivation

21:39:55 [Rahat3256] a 30 yrs old man .....phenotipically normal...has 2 siblings died frominfentile taysachs by the age 5,what is the risk thatthis man is a heterozygous carrier of the disease causing mutation

21:39:59 [Lorena] endocarl cushion is thye most frequent cardiovascular anomaly in downs

21:40:09 [acestep1] hey step1 its a wild guess

21:40:15 [acestep1] ya

21:40:18 saima1 enters this room

21:40:27 [Rahat3256] hi saima

21:40:37 [Lorena] yes ace!!!

21:40:40 [Step_1] yes, endocardial cusions. good job! and a bit of embryo with the NC cells

21:40:41 mash enters this room

21:40:57 [acestep1] 25 % . i think _ rahat

21:41:00 [Rahat3256] hi mash

21:41:10 [Step_1] hi mash

21:41:13 [mash] hi guys

21:41:18 [acestep1] yes

21:41:19 [Lorena] welcome mash!

21:41:27 [acestep1] hi mash

21:41:35 [mash] thanx

21:41:48 [nimta49] unable to convert testosterone to DHT? Ambiguous genetalia

21:42:20 [mash] def of 5 alpha reductase

21:42:31 [nimta49] correct

21:42:38 [Lorena] what is the answer rahat?

21:42:39 [Step_1] hi nimta. 5 alpha red def

21:43:00 [Lorena] agrre with you guys

21:43:24 [Step_1] 50%?

21:43:28 Hamidi enters this room

21:43:29 [acestep1] n for tht we give finasteride in

21:43:37 [acestep1] ?

21:43:40 [Rahat3256] 2/3

21:43:55 [neurodoctor_75] 10%

21:44:00 [mash] BPH

21:44:19 [Step_1] finesteride is a 5 alpha red inhibitor, right?

21:44:21 [nimta49] congenital def of short arm of chr 5. microcephaly,mental retardation, cardiac abnormality

21:44:36 [Step_1] BPH

21:44:37 [acestep1] hey rahat how did u calculate it ?

21:44:38 [Rahat3256] because as it is a auto...rese disease

21:44:41 [mash] cri du chat syndrome

21:44:51 [nimta49] right

21:44:52 [Lorena] cri du chat

21:45:13 [acestep1] ya agree

21:45:14 [Rahat3256] & tha man is 3o yrs old, so no chance to be affected as he is not affected yet

21:45:15 [Step_1] cri-du-chat

21:45:18 [mash] how many genes do we share with 1st cousins?

21:45:34 [Lorena] 1/8

21:45:36 [Step_1] trick question rahat...good one

21:45:38 [Rahat3256] so he has 3 chances left

21:45:50 [Rahat3256] among them 2 heterozygous

21:45:58 [nimta49] 1/8

21:45:59 [mash] n wat abt second cousins

21:45:59 [Rahat3256] homozygous normal

21:46:02 [Lorena] good question rahat

21:46:06 [Rahat3256] so answer is 2/3

21:46:22 [Lorena] 1/16

21:46:30 [acestep1] thnx rahat

21:47:01 [Step_1] mash and nimta....you might want to select a brighter color so we can see it better by using the rainbow to the right -->

21:47:07 [Rahat3256] de nada

21:47:31 [mash] yeah sure

21:47:58 [mash] wat is mosaicism?

21:48:01 [Lorena] is that it? 1/16 for second cousins?

21:48:25 [mash] yean it is 1/16

21:48:46 [Lorena] mosaicism is when different cells in the same person has different number of chromosomes

21:49:19 [nimta49] testicular atrophy,long ext,femalke hair distribution,gynocomastia

21:49:43 [Lorena] klinefelter

21:49:53 [neurodoctor_75] presence of 2 or more celllines that r distinct but derived from single zygote

21:49:57 [mash] klinefelter

21:50:01 [acestep1] yes agree

21:50:05 [Step_1] klinefelters

21:50:09 [nimta49] correct,xxy

21:50:09 [Rahat3256] me tooo

21:50:26 [svaious] 47xxy

21:50:27 [acestep1] its aa aneuploidy

21:50:37 [acestep1] yup

21:50:37 [mash] cloning?

21:50:40 [Step_1] mosaicism

21:50:56 [Lorena] cellines???

21:51:13 [Step_1] how many barr bodies in klinefelters?

21:51:20 [acestep1] 1

21:51:25 [svaious] sex chromosome anuepolidy

21:51:27 [Step_1] cellines = cell lines

21:51:34 [mash] one

21:51:40 [svaious] one?

21:51:55 [Lorena] depending od the karyotype, if it is YX or the number of extra X chromosomes

21:52:00 [Step_1] yes one barr body because 47 xxy - one x is inactive

21:52:00 [mash] wats the ans neurodoc?

21:52:09 [Rahat3256] omm

21:52:21 [Step_1] how about in turners syndrome, how many barr bodies

21:52:38 [mash] none

21:52:41 [nimta49] no barrbody

21:52:43 [acestep1] none

21:52:47 [Lorena] but if the kayiotype is YXXX then 2 barr bodies

21:52:54 [svaious] zero

21:53:00 [mash] all but one X r inactivated

21:53:03 [Lorena] agree

21:53:22 [Rahat3256] yah i agree with lorena

21:53:24 [Step_1] good point, i should have mentioned the karyotype

21:53:44 [Rahat3256] & SAVIOUS

21:53:53 [Step_1] zero for turners because xo, so none are inactive

21:54:19 [mash] wat is pericentric inversion?

21:54:42 [Lorena] invsions that include the centromere

21:54:43 [Step_1] the answer to neuro's question should be mosaicism

21:55:05 neurodoctor_75 exits from this room

21:55:16 neurodoctor_75 enters this room

21:55:16 [Rahat3256] what is preder willi syndrome?? what is the defect??

21:55:20 [mash] i think its cloning

21:55:21 [Lorena] thank you step 1

21:55:40 [Rahat3256] thank you step 1

21:56:01 [mash] paternal inheritance of deletion of ch 15 q 11-13

21:56:06 [neurodoctor_75] sorry connection was lost

21:56:27 [Lorena] deletion n chromosome 15 given by the father

21:56:30 [mash] its an eg of imprinting

21:56:35 [svaious] mash is correct

21:56:36 [Step_1] prader willi syndrome

21:56:50 [Rahat3256] nice answer

21:56:57 [acestep1] yes

21:57:06 [acestep1]

21:57:11 [Step_1] oops, i thought mash was asking a question

21:57:24 [svaious] what is maternal disomy?

21:57:38 [nimta49] long ext,hyperextensive joint,subluxation of lens,flopt mitral valve

21:57:55 [mash] marfans

21:57:56 [Lorena] marfan

21:58:05 [Step_1] marfans

21:58:09 [nimta49] correct

21:58:12 [neurodoctor_75] marfans

21:58:13 [acestep1] hey svavious didnt egt ur q

21:58:15 [mash] ch 15 defect in fibrillin gene

21:58:23 [acestep1] yes marfans

21:58:53 [svaious] what is the concept of maternal disomy?anybody?

21:58:57 [Lorena] svaious

21:59:09 [Lorena] i dont remember

21:59:11 [neurodoctor_75] disomus is a double bodied monster??????????

21:59:12 [mash] no idea

21:59:35 [Lorena] anybody answer svaious?

21:59:37 [acestep1] dunno

21:59:38 [svaious] it is seen in syndromes like Prader wli

21:59:58 [svaious] the re is absecnce of paternal chromosome 15

22:00:27 [svaious] and presence of two maternal 15 chromosomes

22:00:42 [Rahat3256] what is the defect here? in preder willi

22:00:52 [acestep1] oh i didnt know tht

22:01:03 [Step_1] thanks svaious

22:01:18 [svaious] deletion of chromosme 15..long arm

22:01:27 [Rahat3256] ok i will say

22:01:27 [mash] mat inheritance of same deletion wud result in?

22:01:32 [Lorena] paternal del in chromosome 15

22:01:41 [Lorena] angelman syndrome

22:01:48 [Rahat3256] of 4 million bases from long arm of chromosome 15

22:01:53 [Step_1] angel man

22:01:55 [mash] right

22:01:58 [Lorena] thank you svaious for your explanation

22:01:58 [Rahat3256] yah lorena is right

22:02:01 [acestep1] i thought both angelman n praderwilli were cyz of deletions as due 2 inactivation 1 chromosome

22:02:20 [Rahat3256] yah

22:02:26 [Step_1] mom is an angel. P rader willi is P aternal.

22:02:40 [acestep1] didnt knowtht angelman had 2 maternal genes transfererd

22:02:50 [acestep1] lol. gd 1 step1

22:03:13 [svaious]

22:03:24 [Lorena] i like that step 1 !

22:03:36 [mash] angelman is mat inheritance of del of 15q11-13

22:03:43 [svaious] type of trnaslocation in philadelphia chromosome?

22:03:57 [Rahat3256] nice mash

22:04:01 [mash] robertsonian?

22:04:01 [acestep1] reciprocal

22:04:06 [nimta49] angelman syn, del of chr 15, inherited from mother

22:04:23 [mash] thanx rahat

22:04:25 [Lorena] reciprocal

22:04:34 [Rahat3256] nice nimta49

22:04:53 [svaious] correct Lorena

22:05:07 [Step_1] baby with mental retardation, macroorchidism, tripple repeat of CGG. What dz and inheritance??

22:05:08 [neurodoctor_75] abnormality of 22,missing goes to ch 9

22:05:14 [mash] d'oh its reciprocal

22:05:28 [mash] fragile X

22:05:38 [svaious] Fragile x

22:05:42 [Lorena] fragile X

22:06:00 [acestep1] yes agree

22:06:07 [Rahat3256] Fragile x

22:06:17 [svaious] X linked

22:06:22 [mash] wat r d other trinucleotide repaet seq ds

22:06:30 roshy04 enters this room

22:06:36 [Rahat3256] FMR1 gene involved

22:06:37 [Step_1] yes the macroorchidism gives it away....mneuomonic is "Malcolm X had big cojones"....excuse the language

22:06:49 [svaious] Huntingtons

22:06:58 [Lorena] huntington

22:07:05 SMS enters this room

22:07:12 [mash] yes, CAG repeat

22:07:20 [acestep1] also duchnnes

22:07:25 [Lorena] myotonic dstrophy

22:07:29 [svaious] myotonic dystrophy

22:07:41 [mash] myotonic dystrophy n fredrichs ataxia too

22:08:02 [Lorena] these diseases also show anticipation for the same raison

22:08:09 [acestep1] oops imeant myotonic dystrophy

22:08:25 [Step_1] huntington, fragile x, friedreichs attaxia, myotonic dystrophy

22:08:43 [Valentina1] About Cystic fibrosis?

22:08:44 [nimta49] multiple sponteneous abortion due to what?

22:08:50 [mash] wats d repeat seq in

22:09:07 [acestep1] cytogenic abn

22:09:11 [mash] MD n Fredrichs ataxia?

22:09:14 [nimta49] chromosomal abnormality

22:09:33 [mash] ch abnormalities

22:09:41 [Lorena] agree with nimta

22:09:43 [svaious] trisomy 21...is the most common cytogentic abnormality in recuurent abortions

22:09:49 [Lorena] and mash

22:10:05 [mash] del of PA ch 7 508

22:10:42 [Lorena] cystic fibrosis

22:11:14 [mash] wat is it inframe or frameshift del?

22:11:31 [nimta49] isochromosome?

22:11:46 [Rahat3256] multiple of 3 & other is not

22:12:15 [nimta49] single chr, either have 2p/2q

22:12:15 [Lorena] agree with rahat

22:12:27 [acestep1] hey rahat u mean inframe n frameshift mutation

22:12:45 [Rahat3256] yah

22:12:50 [Rahat3256] thanks lorena

22:13:00 ang1el enters this room

22:13:20 [Lorena] framepooh pooh results in a worse mutation

22:13:25 [Rahat3256] hii ang1el

22:13:32 neurodoctor_75 enters this room

22:13:36 [ang1el] hi

22:13:42 [Step_1] what dz has inability to phosporylate the mannose residues of potetial enzymes located in golgi apparatus?

22:13:48 [acestep1] thnx lorena

22:13:52 [Step_1] hi ang

22:13:54 [Lorena] because alters the codons downstream

22:13:58 [ang1el] I am new to this site

22:14:12 [Lorena] welcome ace

22:14:18 [svaious] I cell disease

22:14:26 [Step_1] welcome ang, we're discussing genetics

22:14:35 [Lorena] ang1l we are discussing genetics

22:14:35 [Rahat3256] but you are wel come ang1el

22:14:39 [ang1el] thats what i wa expecting

22:14:48 [mash] I cell ds

22:14:51 [Valentina1] name the disease?...Normal at birth, Light skin + hair , Mousy odor?

22:15:04 [Step_1] yes, I cell disease....good job

22:15:05 [Rahat3256] you can participate from now & Onword

22:15:07 [mash] PKU

22:15:09 [ang1el] I am thinking for USMLE but haven't prepared yet

22:15:16 [Step_1] pku

22:15:18 [Lorena] agree with mash

22:15:24 [Valentina1] yup

22:15:31 [Rahat3256] me too

22:15:32 [mash] def of PA hydroxylase

22:15:32 [Lorena] and step1

22:15:32 [Valentina1] PHENYLKETONURIA

22:15:38 [ang1el] Thankyou Rahat3256

22:15:39 [nimta49] phenyketonuria

22:15:47 [Rahat3256] PHENYLKETONURIA

22:15:48 [Valentina1] that came on my exam

22:15:53 [mash] which aa is given to these pts

22:15:57 [Step_1] treatment for pku?

22:16:13 [Lorena] thanks valentina

22:16:15 [Rahat3256] you r wel come ang1el

22:16:46 [mash] dietary restriction n tyrosine

22:16:53 [ang1el] normal at birth light skin hair mousy odor is it phenylketonurea

22:16:54 [Rahat3256] thanks a lot valentina

22:17:05 [Valentina1] Name disease... Enzyme defect: Homogentisic oxidase. Black urine + cartilage, Early onset arthritis?

22:17:18 [mash] alkaptanuria

22:17:33 [Rahat3256] The goal of PKU treatment is to maintain the blood level of

22:17:37 [svaious] Alcaptonuria

22:17:40 [Valentina1] yup

22:17:41 [Lorena] alkaptonuria??

22:17:41 [nimta49] alkaptunuria?

22:17:49 [Step_1] low PHY and high TYR diet

22:17:54 [acestep1] agree

22:18:10 [Lorena] thanks step 1

22:18:13 [Valentina1] PKU: Rx: Dietary restriction of phenylalanine

22:18:25 [Valentina1] yup

22:18:36 [Rahat3256] phenylalanine between 2 and 10 mg/dl.

22:18:37 [svaious] pts with PKU should avoid which artificial sweetener

22:18:39 [svaious] ?

22:18:51 [mash] aspartame

22:18:51 [Step_1] the enzyme thats missing normally converts PHY to TYR. so without it, you need to give TYR since they cant make it

22:19:01 [Lorena] aspartame

22:19:14 [svaious] correct mash

22:19:22 [Lorena] which is in many light products

22:19:25 [svaious] lorena!,,,good

22:19:42 [mash] wat vit def can lead homocystinemia

22:19:56 [svaious] Vitb12

22:20:03 [acestep1] b12

22:20:07 [neurodoctor_75] folicacid

22:20:31 [Step_1] cystathionine sythase.....B12

22:20:31 [mash] folate def is d most common cause

22:20:48 [nimta49] whats the ans step-1

22:21:24 [Valentina1] Name it: .... Defect: Hexaminidase A def. accum. of GM2 ganglioside. Distribution: Retina- cherry-red spot, CNS. Presentation:Mental deterioration + motor incoordination , Death by 2-3, Ashkenazi Jews ?

22:21:27 [Step_1] for which question?

22:21:38 [svaious] Tay sachs

22:21:51 [Lorena] tay sachs

22:21:51 [Step_1] tay sachs

22:21:52 [Valentina1] yup

22:21:59 [nimta49] taysachs

22:22:01 [mash] yeah tay sachs

22:22:08 [Rahat3256] tay sachs

22:22:11 [Valentina1]

22:22:23 [Rahat3256] auto..ressee

22:22:27 [ang1el]

22:22:31 [Step_1] niemann picks....which enz is deficient?

22:22:34 [mash] how do u diff b/w tay sachs n nieman picks

22:22:50 [Valentina1] Sphingomyelinase def. accum. of sphingomyelin

22:23:06 [Lorena] hexosaminidase A vs. sphngomielinase

22:23:13 [Rahat3256] hey guys

22:23:17 [Rahat3256] go now

22:23:25 [Step_1] NP has splenomegaly

22:23:29 [Rahat3256] hexosaminidase A vs. sphngomielinase probably

22:23:29 [mash] i mean clinically

22:23:36 [Lorena] thank you for being here rahat

22:23:40 [Rahat3256] nice talking wiht you today

22:23:51 [Step_1] sphingomyelinase for NP

22:23:52 [Rahat3256] i am sorry i have to go now

22:23:55 [svaious] hyperuricemia,mertnal retardation,self mutilation....what is it?

22:23:56 [Rahat3256] orena

22:24:01 [mash] yeah NP has hepatosplenomegaly

22:24:05 [Step_1] thanks for chatting rahat

22:24:06 [Lorena] do you guys want to fow Roxanita/ s schedule?

22:24:08 [Rahat3256] LORENA

22:24:14 [Rahat3256] bye for now

22:24:16 [svaious] and what is the mode of inheritance?

22:24:25 [Lorena] before rahat goes

22:24:27 [Rahat3256] check for the next seesion

22:24:29 [svaious] bye rahat

22:24:29 [acestep1] take care rahat

22:24:29 [Valentina1] NP: yup, Splenomegaly + lymphadenopathy

22:24:38 [Rahat3256] yah

22:24:42 [Step_1] i think its a good schedule

22:24:54 [Lorena] me too

22:25:01 [acestep1] its fine with me 2

22:25:12 [Valentina1] I want to follow Roxanita schedule

22:25:18 [Lorena] then next chat will be wednsday about biostatistics

22:25:32 [Lorena] and so on with the schedule, ok?

22:25:34 [Rahat3256] bye savious

22:25:41 [neurodoctor_75] what time

22:25:42 [svaious] good idea..

22:25:49 [Step_1] ok, sounds good to me

22:25:51 [Rahat3256] yah ok guys

22:25:52 [Valentina1] next wednesday, first chapters on Epidemiology and Biostatistics?

22:25:54 [Lorena] same time...9PM EST

22:25:55 [Rahat3256] nice idea

22:26:03 [Valentina1] actually it came a lot in my exam

22:26:08 [Rahat3256] thank you soooo much lorena

22:26:08 [Lorena] yes valentina

22:26:11 [neurodoctor_75] k

22:26:12 [acestep1] k

22:26:14 [Step_1] 9pm eastern time like always

22:26:16 [svaious] k

22:26:21 [neurodoctor_75] see u then

22:26:27 [ang1el] hey friends which time you follow

22:26:37 [Valentina1] where do we get the schedule in charts?

22:26:40 [Rahat3256] wednesday ,right???

22:26:46 [ang1el] i am from Nepal and would like to know the standard GMT time

22:26:53 [Rahat3256] 9.00 pm EST

22:27:01 [neurodoctor_75] been a nice chat

22:27:02 [ang1el] is it indian time or ????????

22:27:05 [Step_1] eastern daylight time....right now its 10:26 pm eastern daylight time

22:27:07 [Lorena] i'll post it ang1e

22:27:23 [Rahat3256] pretty near from me ang1wl

22:27:35 [Valentina1] let's make certain number of questions for the next session, I will bring my questions from exam

22:27:35 [Rahat3256] sorry ang1el

22:27:37 [ang1el] estern day time ?????/

22:27:44 [ang1el] can you tell me which country

22:28:01 [Step_1] http://www.timeanddate.com/worldcloc...0&sec=0&p1=179

22:28:02 [Rahat3256] EST means NY time

22:28:04 [ang1el] IS standard US time

22:28:18 [Lorena] try the questions not to have a very long answer

22:28:21 [Rahat3256] you can match from http://www.time.gov

22:28:24 [Valentina1] It is at 8pm central time or 9pm eastern time right?

22:28:30 [Step_1] use that link to find out what time 9pm EDT is where you live

22:28:38 [ang1el] I got it

22:28:45 [Lorena] yes valentina

22:28:51 [roshy04] what's ans for MR+hyperuricemia+selfmutilation??

22:28:52 [Valentina1] where is the schedule Lorena?

22:28:59 [Rahat3256] yah valentina

22:29:06 [Lorena] it is posted

22:29:08 [mash] lesh nyhan

22:29:12 [roshy04] what's the meaning of selfmutilation??

22:29:13 [Rahat3256] ok guys bye for now

22:29:22 [neurodoctor_75] i cell

22:29:22 [svaious] correct mash

22:29:28 [acestep1] bye

22:29:34 [Rahat3256] ang1el you were asking from which country......bangladesh

22:29:35 [Lorena] see you next time rahat , take care

22:29:37 [Step_1] it is located in the announcement in the step 1 forum

22:29:46 [Valentina1] guys we can share study material also, hopefuly everyone have <a target=new href="http://click.linksynergy.com/fs-bin/click?id=c97WUMRO5hY&offerid=47491.10000058&type=3 &subid=0" >Kaplan</a> notes and Goljan

22:29:47 [svaious] self mutilation...biting og ones hands and lips

22:29:49 [neurodoctor_75] sorry i was rong

22:29:52 [Step_1] bye rahat

22:29:56 [mash] it is due to CP

22:30:02 [ang1el] No i am from Nepal

22:30:09 [ang1el] Kathmandu Nepal

22:30:14 [Step_1] lesch nyhan

22:30:15 [Rahat3256] bye step 1

22:30:21 [Rahat3256] rena

22:30:30 [Rahat3256] bye all

22:30:38 [Rahat3256] bye lorena

22:30:45 [Lorena] bye rahat

22:30:49 [nimta49] rahat did you btake step2?

22:30:53 [svaious] bye

22:31:03 [Step_1] valentina...cant type kap lan or else you get that mess

22:31:08 [mash] it wud be 6.30 am in nepal then,ang1el

22:31:09 [ang1el] bye raha 3256

22:31:23 [ang1el] thank mash

22:31:27 [Valentina1] ji Ji ok

22:31:40 [mash] no probs

22:31:43 [Valentina1] I was saying that it would be great that all of us have same material

22:32:00 [Lorena] neurofibromatosis 1, what chromosome?

22:32:03 [Valentina1] k-a-p-lan notes, goljan notes

22:32:10 nne enters this room

22:32:11 [Step_1] i study mostly from kap lan, <a target=new href=http://www.valuemd.com/amazon/books2_content.php?ASIN=0071429484>First Aid</a>, goljan

22:32:20 [mash] ch 17

22:32:23 [ang1el] 13 or 17

22:32:25 [acestep1] 17

22:32:34 [Step_1] oops kap lan, first aid, goljan notes is what i use

22:32:39 [Lorena] and neurofibrotosis 2?

22:32:46 [mash] <a target=new href="http://click.linksynergy.com/fs-bin/click?id=c97WUMRO5hY&offerid=47491.10000058&type=3 &subid=0" >Kaplan</a> is fine

22:32:48 [acestep1]

22:32:49 [Step_1] 22

22:32:59 [Lorena] yes

22:33:20 [Valentina1] ok guys, just in case I found goljan audios in a website, a friend of mine gave me the site

22:33:40 [Step_1] guys, try not to type things like first aid, kap lan, amaxon, f a, etc

22:33:55 [Step_1] whats the website

22:34:09 [Valentina1] then caplan, 1st aid, armazon

22:34:45 [Step_1] good one valentina

22:34:48 [acestep1] lol

22:34:56 [Lorena] yes, that will work

22:35:05 [Lorena]

22:35:23 [ang1el] what is the website for goljan audio

22:35:23 [nimta49] gjan has pathology audio? does he has genetics too?

22:35:27 [Step_1] NF 2 is easy because 2 = 22

22:35:46 Roxanita enters this room