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
21:01:16 [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
21:08:25 [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
21:09:32 [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!
21:11:11 [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?
21:12:53 [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
21:14:18 [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?
21:15:54 [Lorena] answer
21:16:15 [Step_1] yes correct amnio is 16-20 weeks and CVS is 9-12 wks
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
21:18:41 [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
21:23:04 [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
21:24:24 [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
21:25:15 [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
21:38:48 [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
21:57:11 [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
22:03:24 [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
22:22:23 [Rahat3256] auto..ressee
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
22:32:49 [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
22:35:23 [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