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View Full Version : Peds chat: Gastroenterology, Renal,Neurology, Genetic Diseas



dua_frank
04-13-2005, 08:15 PM
Welcome
dua_frank has joined the chat.
[dr_gpsbambra] elisa lets chat
[dranvita] :-happy
[Patrick_Wei] ??
[Patrick_Wei] any one here?
[romdoc] I hope i am in the right chat room. Question? What is SABA's attrition rate?
[chandra] hello
[drlerner] HI
[drlerner] HELLO
[drlerner] Graduated this Year
[RJ] HI EVERY BODY
Now entering USMLE_Step_2 subroom.
dua_frank has joined subroom: USMLE_Step_2
[dua_frank] hi ash
[dua_frank] be right back in 5 minutes
[ash] hi dua how are you?
[ash] ok
[megs] hi dua
[megs] hi ash
[ash] hi megs how are you?
[megs] dua there was prb with my PC ..somehow i fixed it up...missed u guys ...but thanx for the transcripts...i saw them
[megs] fine ash thank u
[ash] megs dua will be back in a min
[megs] how are u?
[megs] ok
[ash] alright
[megs] so whats todya ash
[ash] megs have you started solving usmle world?
[megs] yes
[ash] today is peds neuro,renal,git and genetics
[megs] hi sammy
[samantha] hey megs
[ash] did you find it a lot harder than qbank?
[samantha] dua ash
[ash] hi sammy
[megs] yes ash
[ash] oh no
[ash] :(
[ash] how soon before the exam do you recommend solving it?
[samantha] hi ash
[ash] hi lanny
[lanny] hi guys
[dua_frank] back
[megs] dunno ash buti have taken it after finishing my first reading
[dua_frank] hey megs
[lanny] hi ash
[dua_frank] hi lanny
[megs] hi dua
[ash] ok thanks megs
[megs] hi lanny
[lanny] howre you all?
[dua_frank] megs how's UW q bank coming along?
[samantha] hi lanny
[dua_frank] good lanny, you?
[dua_frank] hey sammy
[samantha] hi dau
[samantha] dua
[dua_frank] i just realized peds is tough :(
[ash] me too dua
[lanny] dua i notice the USMLE table of values dont have serum osmolarity and urine osm you know the normal range?
[ash] serum is 290
[ash] please neglect
[dua_frank] serum is 275 to 300
[dua_frank] tak2 280
[dua_frank] take
[lanny] yes up to 300
[dua_frank] urine is 600 to 1400
[lanny] ok
[ash] and urine is approximately 1.020
[lanny] that conc???
[dua_frank] thats specific gravity ash?
[ash] give or take a few hundreds
[ash] oh yes
[ash] sorry dua
[lanny] yea thats spec grav
[dua_frank] yes give me a few hundred dollars :P
[ash] sure anytime:)
[lanny] urine should be more right?
[samantha] urine ranges from 50 -1400
[dua_frank] lol
[dua_frank] yes lanny
[ash] :)
[dua_frank] think of it as three or four times high
[samantha] am i rt?
[dua_frank] no sammy
[lanny] dont think that low sam
[dua_frank] 50 is low
[dua_frank] begin with 600
[ash] hey dua and also a few more for yesterday
[ash] :)
[ash] you are rich now
[dua_frank] :)
[dua_frank] lol
[dua_frank] i could go over the labs in an hour if you want
[megs] a boy with mental large testies..big jaw and mental age 3...while his bone age is 12 what is diagnosis???
[lanny] dont worry dua
[dua_frank] fragile x?
[megs] yes dua
[megs] what kind of mr he is having???
[megs] mild mod or severe???
[lanny] mild
[dua_frank] severe
[lanny] mild to mod
[megs] DUA RIGHT
[lanny] no no fragile x dont have severe MR
[lanny] they can cope and go to school
[megs] LANNY HIS IQ BY FORMULA IS AROUND 25
[lanny] absolutely disagree
[megs] LANNY THEY DONT HAVE PROFOUND MR
[ash] 2 months old baby with obstructive hydroceph.he was born prematurely after 26 wks of gestation and developed seizures and hypoxia soon after birth.most likely diagnosis?1)arnold chiari malformation 2)germinal matrix hemorrhage 3)kernicterus 4)periventricular leukomalacia 5)ulegyria
[dua_frank] dunno ash could be 1
[dua_frank] or 5
[megs] arnold chgiari 2
[samantha] agree
[samantha] megs
[lanny] megs their IQ is borderline about 50
[dua_frank] lanny megs wanted us to calculate the boys IQ based on the q
[ash] the trick here is that its a premature baby so what could be the most likely cause?
[megs] lanny...i will cq...
[dua_frank] ash tell us
[lanny] ok megs cause many do function
[megs] there is a point
[ash] hint-arnold chiari is wrong
[dua_frank] i knew that :P
[dua_frank] too easy to be right :P
[ash] yeah:)
[lanny] germinal mateix
chandra has left the chat.
[ash] the answer is germinal matrix
[dua_frank] lanny goes for the unknown lol
[ash] right lanny
[ash] :)
[dua_frank] i don't even know what that is *)
[lanny] no i didnt
[ash] what is it lanny?
[dua_frank] what is germinal matrix?
[megs] can u explain it ash???
[lanny] key here is premature
[ash] sure megs after someone tells what is germinal matrix
[ash] right lanny
[ash] so what is germinal matrix?
[dua_frank] dunno
[ash] it is neuroectodermal precursors lining the ventricles
[ash] seen between weeks 22 and 30 of iul
[megs] oh thanx ash
[lanny] its some tissue left in the brain that did not regress in premies since they born premature that tissue bleeds
[dua_frank] oh nice q
heelshmeel has left the chat.
[ash] well i saw this germinal matrix in 3 questions today so i had to ask
[lanny] it is tissue from neroectoderm
[ash] very good lanny
[dua_frank] which q bank ash?
[lanny] UW
[ash] kaplan bank and book and i think medrevu
[dua_frank] i need to do that UW soon
[ash] 3 different queations asking the same thing
[lanny] yeaa dua i advice you to start cause its a lot
[lanny] of questions and theyre really good
[ash] incidentally what is ulegyria?
[lanny] i have been on them for a few mths and still not finished!!!!
[dua_frank] yikes
[dua_frank] dunno ash
[ash] wow lanny now you are scaring me
[lanny] well ash i am taking it at a slow pace
[ash] ok
[lanny] i work and so dont have all day to do them
[megs] small space in the gyri
[ash] thats great lanny
[lanny] so i do them bit by bit and check all ansers and explanations
[ash] very good megs
[megs] ash today only i read this
[megs] lol
[ash] it is a condition due to ischemia in the brain the sulci are more prone to ischemia and hence as a result the brain looks like a mushroom
[ash] :)
[dua_frank] nice
[ash] ulex means mushroom
[ash] in god knows what language
lanny has left the chat.
[dua_frank] mushroon brains. say what? ulegyria :-happy
[dua_frank] probably zulu ash lol
[ash] a 4 yrs old boy who has had a ventriculoperitoneal shunt for congenital hydrocephalus develops meningitis.most likely pathogen?
[ash] :)dua
[dua_frank] staph auerus?
[megs] staph epidermi
[dua_frank] yeah epi
[ash] right megs
[ash] and dua
[dua_frank] forgot abotu epi
[dua_frank] in catheters
[ash] treatment of choice?
[dua_frank] vanco
[ash] right
[megs] agree
[megs] 10 yr boy with ataxia mentalk retardation and absent deep tendon reflexes whats dx???
[dua_frank] wednigh hoffman?
[dua_frank] dunno
[megs] friedricks ataxia....
[dua_frank] absent deep tendon reflexes
[dua_frank] hmm
[megs] what is the defect in friedricks???
[dua_frank] some chromosomal
[dua_frank] x linked maybe
[dua_frank] chr 3 or 6
[dua_frank] who knows :P
[megs] intracellular deficiency of vit e
[dua_frank] oh
[megs] due to defect in alfa tochoferol transfer prt
[megs] what is the treatment???
[ash] 3 mths baby with lethargy and irritability.parents state that the baby rolled off the couch and fell on the floor i day prior to presentation.previously healthy and vaccination up to date.developmental milestones normal.full fontanelle.in the er gets tonic clonic seizuresnext step?1)ct 2)retinoscope 3)sr. ammonia levels 4)i.v. barbiturates 5)perform lumbar puncture
[megs] no treatment for friedricks
[dua_frank] thanks megs
[dua_frank] retinoscopy
[megs] CT...???
[megs] I EVEN DONT KNOW DO THEY DO CT OF SUCH A SMALL BABY...LOL
[ash] its retinoscopy
[megs] lol
[ash] :) megs
[megs] pl, explain ash
[ash] first you want to diagnose raiesd ict
[ash] so retinoscopy can be done immediately
[ash] next step is ct
[ash] this might be a case of shaken baby syndrome
[ash] raised ICT
[dua_frank] retinal hemorrages ash
[dua_frank] not raised ICT
[megs] but in such a small baby from the head feel we can aseess the incracraniel tension...
[dua_frank] shake the baby, the retinal vs rupture
[megs] i mran buldging fontaneeles
[dua_frank] if you see them on retinoscope, think of abuse
[ash] ok i thought its papilledema that we have to look for but dua your answer seems better than the qbank
[megs] lol ash
[ash] thanks dua noit makes a lot more sencet
[ash] sense
[dua_frank] yeah i should be writing the usmle qs :nah:
[dua_frank] welcome lol
[ash] :)
[dua_frank] primary day time eneuresis in a child, probably causes?
[ash] dua what age?
[dua_frank] 6 yrs
[ash] abnormal ureter opening
[ash] below the bladder
[dua_frank] good
[megs] low inplantation of ureter
[dua_frank] thats one cause, also think of spina bifida and obstruction
[ash] right
[ash] this 4 yrs old girl comes with u.t.i. you diagnose by urine analysis.and give i.v.antibiotics,next step?
[dua_frank] usg?
[megs] do msug
[megs] to ssee reflux
[ash] megs what is msug?
[megs] misturating cysto urethrogram
[ash] the answer is do vioding cystourethrogramso right megs
[ash] voiding
[megs] ok ash that is better word lol
[dua_frank] yes do not say potty, say stool...
[ash] what if a 7 yrs old girl comes with the same complaints and you do urinaysis and diagnose UTI and this is her first episode?what next?
[ash] :)
[dua_frank] dunno
perhaps has left the chat.
[megs] treatment first
[megs] give antibiotics
[ash] right megs
[ash] do you do voiding cystourethrography?
[megs] no...ascending infection is common cause at this age
[megs] so if repeated infection...then only do voidig cystourethrogram
[ash] voiding cystourethrography is indicated as a rule in all girls less than 5 yrs with first episode of UTI and >5 yrs after second episode of uti
[ash] very good megs
[dua_frank] thanks
[megs] what is rettes syndrome???
[ash] female+likes to stay alone+
[megs] with wringing abnormality of hand
[dua_frank] mild autism?
[ash] like like autism
[megs] yes ash dua...but hand wringing is imp
[dua_frank] ok
[ash] but doesnt she talk as opposed to autism?
[megs] its a neuro degenerative disoreder
[dua_frank] autistics don't tlak in general ash
[ash] thanks megs
[ash] right but in retts i think she talks
[dua_frank] they are mute not because they can't talk but because they choose not to talk
[dua_frank] rettes talks?
[dua_frank] retts talks and wrings hands, okay
[megs] agree ash
[dua_frank] 13 yrs old girl with edema, abdominal pain, diarrhea, intravascular volume depletion, next step?
[megs] volume replacement
[dua_frank] i gm/msq/day proteinuria
[megs] oops
[dua_frank] missed that
[ash] urinalysis
[dua_frank] next step?
[megs] urineanalysis
[dua_frank] you already did that
[dua_frank] got proteins
[dua_frank] next step?
[ash] usg
[dua_frank] renal biopsy
[megs] peripheral blood smear??
[dua_frank] nephrotic
[dua_frank] if the child was 8 yrs old then next step?
[megs] what is diagnosis dua???
[ash] although biopsy is definitive dont you do it at the end?
[dua_frank] thats what you do first in older than 13 yrs age asg
[dua_frank] ash
[megs] then if nephrotic syndrome give steroids emperically
[ash] cause the 2 main causes are rpgn and minimal
[dua_frank] if younger, steroid trial first
[megs] got u dua
[ash] wow thanks dua didnt know that
[dua_frank] welcome
[ash] so what is the age cutoff for this?
[dua_frank] 13
[megs] ok
[dua_frank] hematuria, brown urine, hypertension, edema, next step?
[ash] thanks dua
[lanny] had it tough getting in
[ash] biopsy?
[ash] :)
[dua_frank] this is nephritic
[dua_frank] so you do throat culture first
[dua_frank] if negative then go aso titre
[megs] newborn with irritabilty crying feeding prblem siezures opithotonus and optic atropy whats dx???
[ash] ahhhhhhhhhhhhhhhhhhhhhhhhhhhhhhhhhhh
[megs] sorry instead of newborns its 3 months infant
[dua_frank] toxo?
[lanny] more clues megs
[ash] megs metachromatic leukodystrophy?
[megs] u are near ash
[dua_frank] krabbes
[megs] its krabbes
[dua_frank] lol
[ash] krabbes
[megs] good dua
[megs] ash
[dua_frank] ash our discussion yesterday helped, i would never have answered this q otherwise lol
[dua_frank] never in a million years lol
[ash] cherry red spot on macula +hepatosplenomegaly?
[lanny] so whats the hallmark dua
[ash] :)
[dua_frank] neiman pick
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[ash] right dua
[megs] agree dua
[lanny] nieman opicjk
[ash] and without hepatospelnomegaly?
[dua_frank] resembles MS, less than 6 months age
[dua_frank] tay sachs :)
[megs] tay sach
[ash] yep
[lanny] oh ok i remeber now thanks
[ash] what deficiency in tay sachs?
[megs] hexosaminase A
[dua_frank] yeah that :P
[ash] right megs
[ash] :nah: and dua
[dua_frank] :nah: right back at ya
[ash] what in metachromatic?
[ash] :)
[megs] ARYL SULPHATASE
[ash] yes
[ash] good
[ash] and in krabbes?
[dua_frank] fabrys?
[dua_frank] galactocerebrosidase
[ash] and neiman picks?
[dua_frank] gluco
[megs] SPINDOMYLINASE
[ash] very good girls
[megs] sphingomylinase
[dua_frank] no cermide phosphrylchone
[dua_frank] yes sphindomylinase
[lanny] sphingo is nieman pick
[dua_frank] glucocerebrocidase in gauchers
[megs] in fabbys what???
[dua_frank] galacto in krabbes
[ash] galactosidase b?
[megs] agree dua
[lanny] alpha galactosidas
[dua_frank] ceremide trihexosidase
[megs] fabrys is ceremide ???
[ash] cewramide tri
[lanny] no fabry is alpah galactosidase
[lanny] accumulaiton is ceramide
[dua_frank] same thing
[lanny] no dua
[lanny] the enzyme def is alpha galacto
[ash] isnt ceramide trihexoside the same as alpha galactosidase?
[lanny] what accumulates is ceramide trihexos...
[lanny] no ash
[dua_frank] Fabry disease is a lipid storage disorder caused by the deficiency of an enzyme involved in the biodegradation of fats. The enzyme is known as ceramidetrihexosidase, also called alpha-galactosidase A.
[dua_frank] it is ash
[lanny] ok dua my source dont tell me that
[dua_frank] my source is the internet, i believe everything on the internet :P kidding...
[ash] lanny it is the same
[ash] i just checked in lippencotts
[lanny] oh yea lol
[lanny] i dont
[lanny] ok
[ash] yeah and also googled it
[dua_frank] i like it when ash says "i googled it"
[megs] i too lol
[lanny] you are talking about the enzyme im talking about the enzyme def and product same thing
[dua_frank] why not yahood it? :P
[ash] :)
[ash] dua you are so funny
[ash] gee thanks guys
[dua_frank] yeah i kid around too much sometimes, sorry, don't mean to disturb anybody :)
[lanny] now you make it clear since you put the ase after dua
[dua_frank] i tell pathology, you tell me which disease
[dua_frank] fusion of podocytes
[ash] ok have to go now
[ash] thanks for the nice chat
[ash] see you all tomorrow
[dua_frank] welcome ash adn thanks for the qs too
[megs] pt with preogressive hydrocephalous meningomyelocele...and strider and apnea..what is dx???
[dua_frank] see you
ash has left the chat.
[dua_frank] dunno ash
[megs] arnold chiari 2 ...
[dua_frank] choroid plexus tum?
[dua_frank] same thing :)
[megs] is arnold chiari a...cgoroid plexus tumor???
perhaps has left the chat.
[megs] dua didnt get u
[dua_frank] no no
[dua_frank] thats dandy walker i think
[dua_frank] nto even that
[megs] dandy walker is enlarged 4 the ventricle
[dua_frank] arnold chairi is degeneration yes
[dua_frank] no no dandy walker is
[dua_frank] arnold chairi is herniation of cerebellar vermis
[megs] yes dua
[dua_frank] why apnea and stridor?
[dua_frank] pressure effects due to HC?
[dua_frank] The symptoms of both types of tumors generally relate to an increase in intracranial pressure (the pressure within the skull). These symptoms can include headache, nausea/vomiting, enlargement of the head and seizures. There can also be hemorrhaging in the carcinoma. Local invasion of the brain can cause weakness or paralysis on the side of the body opposite to the side of the tumor.
[megs] progressive hydrocephalous may cause ...resp centre
[dua_frank] thats choroid plexus tumor
[dua_frank] hard to differentiate from arnold chairi clinically megs
[dua_frank] both have HC presentations
[megs] but do choiroid plexus tumor will have meningomyelocele dua???
[dua_frank] no
[dua_frank] they have ICP
[dua_frank] with paralysis
[dua_frank] sometimes
[dua_frank] thanks megs
[megs] thanx to u dua
[dua_frank] deposition of immune complexes in mesangium?
[megs] infant with frog leg position and subdiaphragmatic retraction and absent tendon reflexes/???what is dx???
[megs] sle dua???
[dua_frank] yikes
[dua_frank] mesangioproligerative megs
[megs] THAT OCCURS IN WHAT DUA???
[dua_frank] maybe sle megs
[dua_frank] not sure
[dua_frank] whats the ans to your q megs?
[dua_frank] charcot marie?
[megs] ITS WERDIG HOFFMANS DUA
[dua_frank] arrghhh
[dua_frank] i knew that :(
[megs] CHARCOAT MARIES INVOLVES EXTREMITIES PRDOMINENTLY
[dua_frank] yes
[dua_frank] stork leg deformity
[dua_frank] megs the nepritic syndromes
[megs] peronial and tibial nerve maily afeected
[dua_frank] can you please tell me which ones with hep b and c infection?
[dua_frank] and with hiv and sle
[dua_frank] i think RPGN
[megs] hiv is focal segmental glomeruloscerosis
[dua_frank] ok FSGS
[dua_frank] sle?
[megs] sle can cause lot many lesions...like measngio...proliferative membranous
[dua_frank] ij
[dua_frank] ok
[dua_frank] hep b and c?
[megs] hepatitis c membranous
[dua_frank] thanks
[megs] i mean hepatitis b ,,,c both cause membranous
[dua_frank] these are the imp ones to remember i thnk
[dua_frank] any other disease associations that we should know about?
[megs] klemstein wilson in DM
[dua_frank] yes thats easy
[dua_frank] good pastures
[dua_frank] linear one
[dua_frank] but not any disease association
[dua_frank] PAD?
[megs] what is PAD??
[dua_frank] pokyarteritis nodosa
[lanny] membranoproliferative is hep C guys
[lanny] membranous nephro is hepB
[dua_frank] hep b membronous
[dua_frank] hep c membro proliferative
[dua_frank] sle RPGN and others
[dua_frank] HIV FSGS
[dua_frank] ok
[lanny] heroin is FSGS too
[dua_frank] nice
[dua_frank] heroin and hiv
[lanny] FSGS
[megs] OH THANX LANNY
[dua_frank] are we asked to calculate maintanence fluid levels?
[dua_frank] in peds
[lanny] so how do we diff arnold chiari 1 and 2?
[lanny] no dua wait for step 3
[megs] PRESENCE OF BLADDER SYMPTOMS IN 1
[dua_frank] ok
[dua_frank] and 2?
[lanny] both has myelo meningiocele?
[megs] meningomyelocele with hydrocephalous
[megs] is 2
[lanny] only one has right whivh one?
[dua_frank] ok
[megs] in 1 hydrocephalous is absent
[lanny] ok megs
[dua_frank] so how will 1 present as?
[lanny] i thought both have hydro?
[dua_frank] bladder incontinence and seizures?
[lanny] myelomeningocele diff them i think?
[megs] no lanny 1 do not have hydrocephalous
[lanny] thanks megs
[megs] in what type of neurological disese nerve conduction studies done???
[lanny] so what then do they have in common megs?
[dua_frank] GBS
[megs] in what type of disese elecromyogram done???
[dua_frank] MS
[lanny] mononeuropathies
[lanny] seizures
[megs] neuro degenerative disease and peripheral neuropathy we do nerve c9onduction studies
[megs] I SAID ELECTROMYOGRAM LANNY
[dua_frank] MS?
[dua_frank] dunno
[samantha] MG
[samantha] myasthenia gravis
[megs] in anterior horn cell disese u go for myogram
[dua_frank] what is ant horn cell disease?
[dua_frank] like AML?
[megs] yes dua polio too
[dua_frank] oh thanks
[dua_frank] didn't know that
[dua_frank] good point
[dua_frank] any specific reason why megs?
[dua_frank] why doesn't nerve conduction study help here?
[dua_frank] would show no conduction here too
[dua_frank] so whats so special about electromyogram?
[megs] sammy right for MG
[lanny] actually i knew only MG for EMG studies didnt know the others
[dua_frank] sammy's just showing off :P
[megs] i just wanted to ask dua..when we do electromyography and when nerve conduction??
[samantha] repeated stimulation causes fatigue rt?
[samantha] so diagnostic?
[lanny] riht samm
[dua_frank] oh ok thats electromyogram?
[dua_frank] repeated stimulations
[megs] yeah sammy
[lanny] isnt EMG shows the 3 mm spike and wave???
[samantha] no...dua
[samantha] :p
[lanny] oh thats EEG?
[dua_frank] yeah thats eeg lanny in petit mal
[lanny] rihgt iw as confusing..thanks dua
[samantha] megs i am just asking not sure
[samantha] thanx
[dua_frank] mulbery lesions, shagreen patches, cafe au lait spots, MR, dx?
ppliutcm has left the chat.
[samantha] neurofibromatosis
[dua_frank] tuberous sclerosis
[samantha] :p
[dua_frank] port wine nevus on left face with hemiperesis of right side of body dx?
[dua_frank] :P
[samantha] sturge weber?
[dua_frank] good :)
[lanny] sturge weber
[lanny] tub sclerosis shows calcifications in brain??
[dua_frank] yes
[lanny] thats called the tubers
[dua_frank] ataxia, babinski positive, absent ankle jers
[dua_frank] dx?
[lanny] whats diff bet neurofibroma 1 and 2?
[dua_frank] schwannomas
[dua_frank] in 2
[lanny] UMN dz?
[dua_frank] 1 with optic lesions
[dua_frank] friedricks ataxia
[dua_frank] ataxia due to spinocerebellar tract
[dua_frank] babibski due to CT
[dua_frank] absent ankle jers due to spinocerebellar i think
[samantha] for ********* what is the clue dua?
[dua_frank] ataxia due to posterior column sorry
[dua_frank] all three are pathognomonic to FA sammmy
[lanny] can we go overi think the foot deformities sammy
[lanny] foot deformities in *********
[samantha] ok lanny
[dua_frank] it sort of like resembles vit b 12
[lanny] clubfoot scoliosis
[dua_frank] except vit b21 would have megaloblastic anemia and no ataxia
[lanny] some type of bone spine probs also heart cardiomegaly too
[dua_frank] yes
[dua_frank] but these three are the main
[dua_frank] have to have those for sure in the q
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[samantha] ataxia absent ankle reflexes and babinski's positive
[dua_frank] tell me kidney and heart anomolies with turners
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[dua_frank] yes sammy
[dua_frank] dorsal colums, spinocerebella and corticospinal respectively degenerated
[lanny] turneris coarct
[lanny] of the aorta
[samantha] thanx lanny dua
[dua_frank] yes COA and bicuspid aortic valve
[dua_frank] horse shoe shaped kidneys
[dua_frank] when is klienfelters diagnosed?
[lanny] in adulthood
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[dua_frank] puberty
[samantha] where do u get horse shoe shaped kidneys dua
[dua_frank] turners sammy
[lanny] dua do you have the sched posted for peds yet??
[samantha] ok dua
[dua_frank] MR blonde hair, mousy body odor, dx?
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[dua_frank] yeah i did lanny
[samantha] phenylketonuria dau
[lanny] phenylketon
[dua_frank] right
[dua_frank] MR ectopia lentis, MVP, long fingers dx?
[lanny] maarfans
[samantha] marphans
[dua_frank] homocystinuria
[dua_frank] close
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[dua_frank] marfans is tall
[lanny] and no MR
[dua_frank] hyperextensible joints
[samantha] erlos danlos?
[dua_frank] scoliosis or kyphosis
[dua_frank] dislocation of lens
[dua_frank] and AR with MVO
[dua_frank] MVP
[lanny] sammy whats ehlers danlos remind me?
[dua_frank] sort of like same pic with homocystinuria
[dua_frank] stretchy skin lanny
[dua_frank] collagen defect
[samantha] it is elasticity of joints
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[samantha] of skin
[samantha] sorry
[lanny] thanks guys
[samantha] and hyperextensible jts
[dua_frank] joints too sammy
[lanny] and its a collagen do right?
[dua_frank] marpans no skin
[dua_frank] yes
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[samantha] yup
[dua_frank] marfans is fribrilling gene
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[dua_frank] i always get homocystienuria and marfans confused
[dua_frank] very similar picture
[dua_frank] except no MR in marfans
[samantha] klinfelter is somewhat similar too rt?
[samantha] tall
[dua_frank] never MR in marfans so thats the main point
[dua_frank] sammy klienfelters is just tall but with eunuchoid features
[dua_frank] looks like a woman
[dua_frank] gynaecomastia, small testis
[samantha] yes XXY
[lanny] blue eyes too
[dua_frank] klienfelters has small testis
[dua_frank] fragile x has big testis
[lanny] right dua
[lanny] fragile so careful testis can bursst>
[samantha] dua what is ans to your q?
[dua_frank] what was my q?
[lanny] kline felters small so they can be felt
[dua_frank] hehe :p
[samantha] the ectopia lentis one
[dua_frank] yes it looks like marfans
[samantha] ok
[dua_frank] so you answered marfans
[dua_frank] which was fine
[dua_frank] but it had MR
[dua_frank] so thats homocystinuria
[dua_frank] thats the differentiating point
[lanny] marfans dont have MR
[dua_frank] right lanny
[samantha] o....good pt
[dua_frank] whats the GI sign in downs?
[samantha] duodenal atresia
[dua_frank] right double bubble sign
[dua_frank] eye?
[lanny] hypoplastic left bowel
[lanny] isnt that seen in downs too???
[samantha] epicanthic folds and irish nodules?
[dua_frank] dunno lanny
[dua_frank] yes brushfield spots
[dua_frank] on iris
[dua_frank] what are the complications associated with dows
[dua_frank] downs
[samantha] oops...sorry
[dua_frank] complications or conditions
[lanny] alzheimers in adult
[lanny] leukemia
[dua_frank] right lanny, good
[dua_frank] also hypothyroidism
[dua_frank] cat cry, moonlike facies. dx?
[lanny] cri du chat
[samantha] cry du caht
[dua_frank] yes
[dua_frank] waddling gait, scoliosis, calf pseudohypertrophy, tell me gene defect
[lanny] x linked
[samantha] dunno
[dua_frank] dystrophine gene
[dua_frank] electromyography here too
[lanny] biopsy too
[samantha] duschion muscular dystro
[dua_frank] yes
[dua_frank] both right
[dua_frank] what is the mild form of duchenne called?
[lanny] beckers
[samantha] beckers
[dua_frank] yes
[lanny] see you all guys
[dua_frank] frontal baldness, testicular atrophy and droopy face. dx?
[lanny] will chk the sced dua thankyou
[dua_frank] see you lanny
[dua_frank] welcome
[lanny] myotonic dystroohy
[samantha] bye lanny
[dua_frank] yes right
[lanny] bye sammy
[dua_frank] whats fascioscapulohumoroal myopathy?
[lanny] atrophy of the face forehead
[lanny] muscles contracting??
[dua_frank] i don't know how this presents as
[dua_frank] was hoping you could tell me
[dua_frank] i guess face and torso something
[samantha] shoulder cannot lift?
[lanny] ok dua we have to discuss gait at wome pt
[samantha] due to weekness of muscles
[lanny] it came as extended matching q in real exam i was told
[dua_frank] please do check and let me know tomorrow
[dua_frank] gait at what lanny?
[lanny] all the diff ttypes of gait about 5 types
[dua_frank] oh ok
[dua_frank] i don't know those, if you do, please tell us
[lanny] gait problems eg shuffling gait where is it seen??
[samantha] yes lanny
[dua_frank] oh ok
[dua_frank] shuffling festinating
[lanny] we will do that in neuro i guess
[dua_frank] scissoring
[dua_frank] i just know those
[dua_frank] parkinsons, cerebral palsy
[samantha] where lanny?
[dua_frank] today was neuro lanny
[lanny] wow well well squeeze in another topic
[dua_frank] ok we can take it up tomorrow
[lanny] maybe last day of peds well do i will remind you
[dua_frank] ok thanks
[samantha] where do we see shuffling gait?
[lanny] no prob dua
[lanny] parkinsons
[samantha] ok thanx
[dua_frank] ok all have a good evening and enjoy your dinner
[dua_frank] see you all tomorrow
[dua_frank] thanks for today
[samantha] :) i know that
[dua_frank] :)
[samantha] bye
[dua_frank] bye
[samantha] thnx

Asclepius1
05-08-2005, 08:19 PM
hi everybody







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