This is the ToolBook version of the Windows application originally developed by Andrew Booth and Jonathan Danks. You can distribute the unmodified book freely and modify it to your own requirements. However, we ask the following:
1 - By all means give yourself credit for your work, but please
leave this page unaltered in your book and provide a route to
it.
2 - It is important that teaching material of this kind is
disseminated as widely as possible, so please ensure that your
material is also freely available.
3 - We would like to set up a library of Case Notes, so when you
have finished and tested your case(s), please would you send a
copy (with any accompanying material) to:
Dr A.G.Booth, Department of Biochemistry & Molecular Biology, University of Leeds, Leeds LS2 9JT, UK
This usually presents at 4-6 months of age with progressive neurological symptoms. Delay in psychomotor development, irritability, spasticity, weakness and muscle wasting lead to loss of vision, deafness and decerebrate rigidity. Death occurs usually by three years. It is inherited as an autosomal recessive character and is 100 times commoner in Ashkenazi Jews than in the general population. Due to a deficiency of beta-N-acetyl hexosaminidase.
erance test is unnecessary.
utropaenia.s inevitable.
"Info"
buttonUp
buttonUp
Diagnosis1
Juvenile-onset diabetes mellitus
This presents over a period of a few weeks with thirst, polyuria and rapid weight loss. There is glycosuria and progressive hyperglycaemia and ketoacidosis. Untreated the condition will rapidly progress with metabolic acidosis, hyperventilation, vomiting, abdominal pain and dehydration leading to circulatory collapse, coma and death.
In such cases, diagnosis is made on the basis of unequivocal hyperglycaemia and ketoacidosis. The glucose tolerance test is unnecessary.
Diagnosis2
von Gierke's disease
This is glycogen storage disease type 1a. It is characterized by an absence of glucose 6-phosphatase in biopsies of liver, intestine or in platelets. There is hepatomegaly, hyperuricaemia, hypoglycaemia and hyperlipidaemia, but no aminoaciduria or ketosis. The glucose tolerance test shows an abnormal rise in blood glucose concentration with hypoglycaemia at the beginnining and end. There is an abnormal response to glucagon with an increase in blood lactate but not glucose.
Diagnosis3
Glycogen storage disease type 1b
This is clinically very similar to von Gierke's disease (q.v.). Glucose 6-phosphatase is present at normal levels of activity, but it shows abnormal latency, i.e. full activity is only seen after disrupting membrane structures with freezing and thawing or by treatment with detergent. The defect is in the glucose 6-phosphate translocase T1, which transports glucose 6-phosphate from the cytoplasm into the lumen of the endoplasmic reticulum. These patients often have a neutropaenia.....
Diagnosis9
Diagnosis10
Diagnosis4
Pompe's disease
This is due to an absence of the lysosomal enzyme alpha-1,4-glucosidase which can be demonstrated in cultured fibroblasts. It presents in the first few months of life, with marked hypotonia and cardiomegaly, hepatomegaly not becoming marked until the inevitable heart failure becomes severe.
There is accumulation of glycogen, an abnormal response to glucagon but no hypoglycaemia. As yet there is no effective treatment and death is inevitable, usually within the first twelve months.ia.....
Diagnosis5
Galactosaemia
This is due to a deficiency of galactose 1-phosphate uridyl transferase which can be detected in cultured fibroblasts. Normal at birth, symtoms start to appear as early as the second week with weight loss, jaundice, vomiting and hepatomegaly. After a few weeks cataracts develop. Unless the condition is quickly recognised death is inevitable and unless treatment (the substitution of a galactose (milk) free diet) is started in the first week of life a degree of mental subnormality appears inevitable..
Diagnosis6
Hereditary fructose intolerance
This is due to a deficiency of fructaldolase B and can be demonstrated in liver and intestine biopsy samples. Symptoms of sweating, vomiting and trembling are precipitated by feeding sucrose. There is hypoglycaemia, fructosaemia, fructosuria, hyperuricaemia and aminoaciduria. If the condition is not recognised and exposure to fructose continues, then jaundice, hepatomegaly, oedema, ascites, haemorrhage and eventually death will follow. Many of the liver function tests are abnormal.ears inevitable..........
Diagnosis7
Maple syrup urine disease
This is due to a deficiency of branched chain alpha-ketoacid decarboxylase. There is hypertonicity alternating with flaccidity, opisthotonus and nystagmus, convulsions and often mental retardation. There are branched chain amino acids and keto acids in the urine.minoaciduria. If the condition is not recognised and exposure to fructose continues, then jaundice, hepatomegaly, oedema, ascites, haemorrhage and eventually death will follow. Many of the liver function tests are abnormal.ormal.ears inevitable..........
Diagnosis8
Lesch-Nyhan syndrome
This presents in affected males (it is an X-linked disorder) with delayed motor development in the first few months leading to choreoathetosis, spasticity and a bizarre urge to self-mutilation such as biting off finger tips.
Due to a deficiency of hypoxanthine-guanine-phosphoribosyl transferase (HGPRT), the striking biochemical feature is a gross hyperuricaemia. The diagnosis may be confirmed by demonstrating the enzyme deficiency in cell extracts.
e liver function tests are abnormal.ormal.ears inevitable..........
Tay-Sachs' disease
This usually presents at 4-6 months of age with progressive neurological symptoms. Delay in psychomotor development, irritability, spasticity, weakness and muscle wasting lead to loss of vision, deafness and decerebrate rigidity. Death occurs usually by three years. It is inherited as an autosomal recessive character and is 100 times commoner in Ashkenazi Jews than in the general population. Due to a deficiency of beta-N-acetyl hexosaminidase.
liver function tests are abnormal.ormal.ears inevitable..........
Booth-Danks syndrome
This is characterized by rectopthmus and a general photophobia in the presence of computer monitors. There is an irrational fear of rodents, most noticably mice. There is often a neurosis connected with particularly obscure metabolic diseases. Carbohydrate metabolism is normal, the glucose tolerance test etc. etc. ...how are you feeling now?r in Ashkenazi Jews than in the general population. Due to a deficiency of b-N-acetyl hexosaminidase.
liver function tests are abnormal.ormal.ears inevitable..........
Then go to the next card (left button - remember?)
Details_hidden
"Details"
buttonup
buttonup
Details
Little_Clip
Details
"Details"
buttonUp
buttonUp
Details
Big_Clip
To put the attached material back behind the card, simply press the space bar again or move the mouse pointer over the paper clip and click the left button.
This is the ToolBook version of the Windows application originally developed by Andrew Booth and Jonathan Danks. You can distribute the unmodified material freely and modify it to your own requirements. However, we ask the following:
1 - By all means give yourself credit for your work in your books
but please leave this page unaltered in this book
2 - It is important that teaching material of this kind is
disseminated as widely as possible, so please ensure that your
material is also freely available.
3 - We would like to set up a library of Case Notes, so when you
have finished and tested your case(s), please would you send a
copy (with any accompanying material) to:
Dr A.G.Booth, BioNet teaching and Learning Technology Programme
Department of Biochemistry & Molecular Biology,
University of Leeds, Leeds LS2 9JT, UK
tel. 44 532-333142 fax 333167 Internet bmb6agb@gps.leeds.ac.uk
buttonUp
These simulations are designed primarily as aids for teaching preclinical science. They are not intended to be used to teach diagnostic skills or clinical management. The author(s) have tried to provide a variety of presentations using data that are as realistic as possible. Nonetheless, all of the data are synthetic and any similarity in name, presentation or detail to any actual case or patient is coincidental and unintentional.
The BioNet Teaching and Learning Technology Programme accepts no responsibility for material reauthored from this original package.
of large quantities of glycogen.
2 - Apart from hydrolysis to glucose, what are the other metabolic
fates of glucose 6-phosphate?
3 - Explain why each of the provocative tests gave abnormal
results. see over...
Further comments
Diagnosed4
4 - The active site of glucose 6-phosphatase is located on the
non-cytoplasmic side of the endoplasmic reticulum membrane.
How does glucose 6-phosphate reach the active site from the
cytoplasm and how are the products returned.
5 - What would be the consequence of the failure of any of the
components of the system that you describe in answer to 4?
This is the ToolBook version of the Windows application originally developed by Andrew Booth and Jonathan Danks. You can distribute the unmodified material freely and modify it to your own requirements. However, we ask the following:
1 - By all means give yourself credit for your work in your books
but please leave this page unaltered in this book.
2 - It is important that teaching material of this kind is
disseminated as widely as possible, so please ensure that your
material is also freely available.
3 - We would like to set up a freely-accessible library of Case
Notes, so when you have finished and tested your case(s),
please send a copy (with any accompanying material) to:
Dr A.G.Booth, BioNet Teaching and Learning Technology Programme,
Department of Biochemistry & Molecular Biology,
University of Leeds, Leeds LS2 9JT, United Kingdom
tel. 44 532-333142 fax 333167 Internet bmb6agb@gps.leeds.ac.ukkkkkkkk
gnosis
About
diagnosed
lastPage
You must pretend that you are a doctor receiving a patient referred to you by a colleague. Your task is simply to find out what is wrong with the patient. You should proceed in a sound clinical manner - take the patient's history, carry out an examination, do routine tests and then, if necessary do more involved tests.
You start with 100 points and while you gain points for carrying out relevant tests, you will lose them for carrying out irrelevant ones, particularly if they are dangerous or unpleasant.
Your diagnosis should be based on fact, not intuition.
on. He was conscious on arrival and has been fed. I feel that he should be admitted for observation and investigation.Q
4diagnosed, lastPage
"Admission"
"Biopsy"
"Diagnosed4"
"Diagnosis"
"About"
"Diagnosed1"
uttonUp
rightButtonUp
buttonUp
rightButtonUp
Admission
Biopsy
Diagnosed4
Diagnosis
About
diagnosed
About
diagnosed
lastPage
Plain
History_done
userAction
4score,
,diagnosed
e"History"
"Author"
"Reader"
"History_done"
userAction
userAction
History
Author
Reader
History_done
score
history
diagnosed
The child was a full term normal delivery to a healthy twenty six year old woman. This was her third pregnancy and there were no complications. The two previous pregnancies were also normal but the first child died at three weeks following a convulsion. The other child is a normal, healthy three year old. Neither parent has any history of ill health or convulsion in childhood and there is no relevant family history.
In the first few weeks, his mother noticed that he became pale, sweaty and irritable before feeds, particularly if the feed was delayed. As time went on, these symptoms led her to give him frequent feeds and it was to this that she attributed his rather fat appearance and round face. Today the feed was delayed and he had a generalized convulsion lasting several minutes.
UreaElectrolytes
-- link
the required DLL's
linkDLL "commdlg.dll"
-- no need
declare
functions
-- since
will be handled
HFILEDLG.
^filedlg.
CommDlgOpenFile(
CommDlgSaveFile(
-- speed things up a little
xkeeping a
record
-- don't allow screen updates
chas been changed
menuSetup
untime version
sysRuntime
4lastTime
keyDownArrow \
--handler
up menus
cwe alter
ToolBook's
c"Edit"
c"Text"
c"Page"
c"Help"
c"Object"
c"Draw"
c"Window"
up a minimal
added
patient
a separator
e"E&xit"
c"&Patient"
e"&New
..." \
-- these handlers cope
fmessages generated
NewPatient
Zfilename,filter,title
Files (*.CBK)|*.cbk|"
-- call COMMDLG.
routine via
ested full path
eBook
enterBook
keyDown
menuSetup
leaveBook
NewPatient
enterBook
commdlg.dll
filedlg.dll
CommDlgOpenFile
CommDlgSaveFile
menuSetup
reader
author
leaveBook
lastTime
keyDown
menuSetup
Object
Window
&File
E&xit
&Patient
&New Patient...
Patient
NewPatient
Patient Files (*.CBK)|*.cbk|
New Patient
CommDlgOpenFile
filename
filter
title
Examination_details
:PHYSSIZE
Note the chubby face and distended abdomen
Patient:
Peter W.
Big_Clip
Details_hidden
"Details"
buttonup
buttonup
Details
Little_Clip
Admission
Diagnosed3
History_done
About
Examination_done
Diagnosed2
Examination_done
userAction
4score,
,examination,diagnosed
4MB_YESNO,MB_ICONQUESTION,IDYES
MessageBox(
"Before doing
z" &
"wouldn't
be a good idea" &
take the patient's
"A moment please",\
-- penalise
ignoring advice!
"Details_hidden"
"Author"
"Reader"
e"Examination"
"Examination_done"
userAction
keyChar
userAction
Before doing any examination,
wouldn't it be a good idea
to take the patient's history?
A moment please
MessageBox
Details_hidden
Author
Reader
Examination
Examination_done
MB_YESNO
MB_ICONQUESTION
IDYES
score
history
examination
diagnosed
keyChar
Details
buttonUp
Details
buttonUp
Details_hidden
Some tests will provide
additional material such
as graphs etc. In this
case, the extra material
will be attached to the
back of the card with
a paper clip. To see it,
press the space bar or move
the mouse pointer over the
clip or the visible part
of the attached material
and press the left button.
Try it now.
Then go to the next card (left button - remember?)
Details_hidden
"Details"
buttonup
buttonup
Details
Little_Clip
buttonUp
Details
Big_Clip
"Details_hidden"
buttonUp
buttonUp
Details_hidden
Details
There may be more than one sheet attached to the card. If so, then the words 'see over...' will be at the bottom of the sheet and you can use the direction keys or the mouse buttons to examine the other sheets.
To put the attached material back behind the card, simply press the space bar again or move the mouse pointer over the paper clip and click the left button.
Try it now.
UreaElectrolytes
Your case notes are entered
on a card like this one. At
first, most of the cards will
be empty but as you do tests
the results will be entered
on the appropriate card.
You can move to the next card
by pressing the down arrow,
right arrow or Page Up keys or
by moving the mouse pointer
over the card and clicking the
left button. Pressing right button
or using the up arrow, left arrow
or Page Down keys will take you
to the previous card. Try it now.
set sysC
Examination_done
"Details"
"Details_hidden"
keyChar
keyChar
Details
buttonUp
Details
buttonUp
Details_hidden
> j
Some tests will provide
additional material such
as graphs etc. In this
case, the extra material
will be attached to the
back of the card with
a paper clip. To see it,
press the space bar or move
the mouse pointer over the
clip or the visible part
of the attached material
and press the left button.
Try it now.
Then go to the next card (left button - remember?)
Details_hidden
"Details"
buttonup
buttonup
Details
Little_Clip
Details
"Details_hidden"
buttonUp
buttonUp
Details_hidden
Big_Clip
There may be more than one sheet attached to the card. If so, then the words 'see over...' will be at the bottom of the sheet and you can use the direction keys or the mouse buttons to examine the other sheets.
To put the attached material back behind the card, simply press the space bar again or move the mouse pointer over the paper clip and click the left button.
Try it now.
You can get 'Info' on the possible diagnoses, but you should not commit yourself until you have done enough tests. Hints are available at a cost of 10 points each. The Help menu contains a glossary of the terminology used and you can use it without cost. You are expected to have a reasonable grasp of the scientific principles involved and so no help is provided with these.
Advice will occasionally be given, free of charge, and you may fail to gain points if you do not follow it. However, do not rely on it always being correct! Remember that while you must gain as much information as possible, you must not harm the patient in doing so.
PKLITE Copr. 1990-92 PKWARE Inc. All Rights Reserved
Not enough memory$
TsY"a
p4{92\
5\h0k
P@>HX
6JG=Cz
d5$W,;
D6@Ql)A
US{.
6sv$r//c
"}P$U
q>0yKy-
_]*:M
M/-y?
%O-!B
a8 J(Z
@4A(h)
?!oBf
CW<`+z
/({}#/1!b
EofhZ
Dv#>[
7#r(N
XN,pZ
> <~g,
UEFB~
fyxix8
^ZYY@V
G%S,~
J tFg
+&qH]
+ y&
04{;,p
_:'p'>]
[]oU)S
T6[7J
3w}(6
C@{U,
Mct"
<?K
~WvxL<
i8TWZZ
@'\$,MKZ\&&Fvfcu
u [}h
'Sqmoku
0:"=9:&><2
<Oq|ugfpB
6F_MR
$Khv|vjei
<533$
8XO_I+CgkoEon!
cvaqtdJ
`0h~k.Ya
2l|y \
\:(*7
/}rA7m
I;9b!
l:Y?nQ
"B~x*
W&GwvF
&2'&7
T*9/t
8GuV Se
`h8\8-}a
|K=wl
488w313
q=(h)L
Z9.JwYd
$&'Y!'
Ci|*gijc
p`vpkn
+e{(k
~f(b)
FN#u0we
8141)4z59':<+9
)/)$j:7:/|f:SP]U
DE_IN[PN
ZYIKB
_GBOX
@sv{$:
>x{sze*I\M*
Q^YwX^
'205q
z81(z(#2>n"#$#
=-j>Y
J_:{P^
zXK]Y{tg>q
oo6nu>}utb
v5p`y[
<0+)67<y2'(;69?
<#i- #,qiGpUZPKI
I^JHNX[O IFY
+`Io
#!Noemnujo`;#
;4y*z
,?8>`~^
NL/-"c0d+LYR
PQXQXI
L%cLPF
kVIK
wz}r+3
?d`t7AX
[vqEh
.ZG\DH
V\JQDBME4
?76GETA;:
c{ong+e
bd}m`
jdzbnl(e
"]!>!o
|ooHss
x|f*rl
E9Ex`
ck&zfqIt
,Y.OF
\ $ B;`HB
README.DOC}R_o
!B: 8
lf5*[
SHAREWAR.DOC
WHATSNEW.204
{.9#KM
q[`=\C
2Vm,#
s+')T^k
Eyr1e
U*[G}
gE4[gj
v."r%_6
V204G.NEW
DqQYXY
RD:~@
u ).N
Tc7r
;QZXx
,,gJ[U
&TR9<
p 1Qv
O+WJT
UMH>d
]-S%{
u@7Y4
HYo@Y
\+es*
&{8pF
A=8 >
@.%GL
9=NU]R
~>dH=j
/n0p8
R;=MEz
HINTS.TXT
82yppp
+l[+!
\>(a{
5X ;)
lN\$!
n@U)z
I!QcQZ
|4e-.
uF/{zG
{_>qr
S|*^|
=Iu"x
EqTf!n
QV:&vR
6uqyu
t\ ):
>slvq
wwq|yq
i,5{0Tz
l #t!
yPcw[
i}0^I=O
`QXzMS
Lz?0p
L{odmy
=nDv]
Zw60"
Z_Hw&
agtk|
LICENSE.DOC
93BIV
$TJs0[&
Fh4x}
wEY~IQ+D
wZHC:
ORDER.DOC
[<0lj
\1,xQ
Ro +n
[\Se#h
}}`G9"Z
{c55S
#^IZ\`N
-iFq6R@
%^<#7Z
K3<4_
f)hf<
ADDENDUM.DOC
,vE*i
t|yzs!
2O Lr'
gbtr=
\Kj<S
I,KS$*
W+P<PxvM
['wBZq=
+MQTq
zPY(;Q7
SXuVgY
drG+YN"K
v6{@jcf
XfEYn
Id)qR3R
78(v,
Qs}z)
-(sQx
MANUAL.DOC
a8WS%R
y.|j?
Lc6O4,
%z^(q
Ja$:/H
j*c8Pce!
t|yvzutzu
*3P&"
,VyJX
33Y>@U
<7}tR
mS&taO
dE!Q]F
F4q3SK
e.or9
z6S1,
2\myH
Sr50'
RU~~]
s~qvr~%
ic0 $J
k x#G
w_fVEUi
NGA[6V
mh^5=&
PSlIn
d_AP,
LSQUx8
m7z@tM
,![=o
.+Z9r
>|`@A
twH)Io
\Pc(z
Wv8vk
aRPM|rUVMt2
j<j#"
-g^R+
~p Z2TK
@I%++
c,ebLh
JL{?|
[!.HP
I$9ip
_ a\
0s%6l
>Y(5<n
`MONE6
%kJ#^
<HM/;
K:Ztr
|1/}
{EJ`p-
>*c9/
[sYbX
!w}Um+GN
zau/^
~~{tzxv
?=zS;
cd9)
UF,OS
0YxymL
Et*Pd
1a{i,
1K!_aO%
V\, N
umS%&5&M
J[ %Z
8<5'j
2F]!
L1f7ad
0?C,|
"jF:48
79t~CUY3
]2{')
tv^Lg
_VI[I
mtxmP
5"@T;
JrgU1
O:w r
H@j4X
9B 4{
M<Ydp
'C% 6
CfYz!"{F~
<y)%R
O=t'.0
LUf@l"
(9*y3~
5aT +Y
<>M\a
_iYHr
N#,z`
1 y<vA
+*uJ=.|
Q)Rwd}
.kBADS
yMhRvQ
AN,+>
(x`Ye*
3)2Q|
&#UrM Vx
<KPd*
@K,E2
)C`:'
&L`\k
Z6\"+Q}'P
2yxWD
&CEM~/
"w2:hBM
9W9zc
c9e0Z
f+kOVW
HiZhEL:
aZgDpp
w>?=%
eZR)a
&*Q)3`a
2_'>s
F)1_
C][Mo
-s%t#
l;['[
wM!1.X
T2vy0
@V0VT1 >
l5j;[
r ^-=)&
q Sr@
XERD)NK:
7k_C|b6
-EPD2|
ij+Eo
c?0y:
T^RO*
{TfJi
4L'A,U
6v6Y8
:&VP}m6
4]ACO;
Igz!E
VMA*r`
h]}X!O
BDc)E
5pF%&
LVb@]
}l`:,6I
MVpaU
~iXs65'Q[.
+7RQ\
:4`LC
j(;Lb
EIc4S
;'/0sJ
lR4aV
WVr7V
1;Q8x3
|uvi:/
9ov:o
UreaElectrolytes
userAction
4score,UandE,
,examination,diagnosed
4MB_OK,MB_ICONEXCLAMATION
MessageBox(
"Before doing
tests" &
would be a good idea" &
examine the patient.",\
"A moment please",\
e"Urea&Electrolytes"
+ 10
"Author"
"Reader"
"Blood
v - see card #2" &
"Blood_tests"
"UreaElectrolytes"
userAction
userAction
Before doing any tests
it would be a good idea
to examine the patient.
A moment please
MessageBox
Urea&Electrolytes
Author
Reader
Blood Urea & Electrolytes - see card #2
Reader
Blood_tests
UreaElectrolytes
MB_OK
MB_ICONEXCLAMATION
score
UandE
history
examination
diagnosed
Your case notes are entered
on a card like this one. At
first, most of the cards will
be empty but as you do tests
the results will be entered
on the appropriate card.
You can move to the next card
by pressing the down arrow,
right arrow or Page Up keys or
by moving the mouse pointer
over the card and clicking the
left button. Pressing right button
or using the up arrow, left arrow
or Page Down keys will take you
to the previous card. Try it now.
Examination_done
userAction
4score,
,examination,diagnosed
4MB_YESNO,MB_ICONQUESTION,IDYES
MessageBox(
"Before doing
z" &
"wouldn't
be a good idea" &
take the patient's
"A moment please",\
-- penalise
ignoring advice!
"Details_hidden"
"Author"
"Reader"
e"Examination"
"Examination_done"
userAction
userAction
Before doing any examination,
wouldn't it be a good idea
to take the patient's history?
A moment please
MessageBox
Details_hidden
Author
Reader
Examination
Examination_done
MB_YESNO
MB_ICONQUESTION
IDYES
score
history
examination
diagnosed
& P l
Some tests will provide
additional material such
as graphs etc. In this
case, the extra material
will be attached to the
back of the card with
a paper clip. To see it,
press the space bar or move
the mouse pointer over the
clip or the visible part
of the attached material
and press the left button.
Try it now.
Then go to the next card (left button - remember?)
Details_hidden
"Details"
buttonup
buttonup
Details
Little_Clip
Details
"Details"
buttonUp
buttonUp
Details
Big_Clip
To put the attached material back behind the card, simply press the space bar again or move the mouse pointer over the paper clip and click the left button.
(.txt)