the syndrome in my previous post is called
anhydrotic ectodermal dysplasia-it's affecting the ectoderm
so in that child case, he's definitely hairless,
the skin is somewhat pale and thin
and the other thing is he cant control his temperature
n guess what they suggest??
try living in the cold country!
they might go developing seizure and end up with brain damage
if the temperature is too high
they dont have the normal temperature regulator as we do
because they dont sweat so yes no way of reducing the temperature
and they are prone to infection so explained the many
many tablet he's on

i saw another new rare syndrome this week
the child has rubinstein-taybi syndrome
most of the cases were diagnosed by the broad thumbs/great toes
as the facies are not obvious when they are still young
the disorder is due to the deletion of 16p13.3
her face show the features of the syndrome
like beaked nose,
ptosis, small maxilla, microcephaly,
small mouth with crowded irregular teeth, high palate, n
short upper lip
the great toes and the thumbs have some deviation as well
she has a delayed in speech
but she seems friendly enough to let us come near her
and played with us hehe

i didnt go in with dr.G this time so i probably missed
other interesting patients she has

i need to finish my case now ;)

i wanted to write about what happened in sligo
but one of the things include the unavailability of internet connection
at my bnb so yeah i couldnt go online
the modem was in faulty condition-u can see
from the look of it really
but somehow the bnb's makcik asked someone
to come n fix it-well he did but the internet was not that good
so i have to suffice with only browsing the very few pages that i really need to go to
before the connection disconnected or the signal became very weak
i know it'll b better if i just go down the stairs n just plugged it off for a few minutes but i was too lazy haha

i have an early start every morning-8.30 mostly everyday n the bnb is half an hour away from the general hospital on foot, my paeds ward is on level 7 so i normally take the lift
instead of the stairs :D
the clinics are on mostly everyday
the ward round is twice everyday
the scbu is quite small compare to galway
but there is this one baby with pneumothorax
he's a big baby with diabetic mother
but the insertion of drainage tube was a wow bcos i've never seen one b4 hehe
most of the babies there bcos of diabetic mother
pneumothorax baby is the only one in incubator
the rest are all quite well in their cribs

one pt who came to the clinic
had this very pale thin skin-like an albino
with no hair
i could see blood vessels on his head
very clearly like those of osteogenesis imperfecta
he had three fangs-like tooth at the age of three
the tongue was a bit long
n he's on several medications
later the consultant told me he has...........
i forgot-will post it later haha

i'll b going for my away attacment-in sligo again
for the next two weeks
am hoping for the good weather
n not icy cold-n yes no rain pls
as if that's possible haha

anyway we had an outing last night
the ikan was SEDAPPP as in malaysia hehe
that scallops was a little weird though
i dont really like the taste-or rather
i couldnt recall what the taste was like?!
i would say-if you want to eat fish then go to tamarind
thai garden is as the name is = tom yam/tom ka goong(tk reti eja)
indian food is best in kashmir
trattoria is when u feel like eating italian food :D

my bus is at 8 tonight
gah im so not in the mood to pack my bag!! :(

i snapped at someone on friday
i was very much annoyed with mostly everyone
i had a presentation in the morning
of which i only got the case
on wednesday night
left me with only a day to prepare

i was soooo annoyed
bcos seems like everyone want to b oncall
why the hell do they have to b on ward
when they r not suppose to
n when they not even presenting on the next day
or even in the week
it's alright if they were there to check on
their patients' chart for any progress
but when they asked the nurses for history-after 6 i mean
that's when they've taken other people's
right bcos of the soo many people want to
take history after 6 that wednesday
the nurses were reluctant to allow any more
i.e the people who were on the on call list to do our work
which is FINDING THE CASE FOR PRESENTATION!!
i was frustrated my head was throbbing
n the light was unbareable for my eyes
i had to go home n sleep
b4 i went to a&e with sarinah
thank god there were several pt there
i got the case from there
n my headache stopped heh :D

but anyway i'm done with case presentation
so i wont b banging my head on the wall
bcos i couldnt find one anymore hahaha
i must admit i became a meanie when
im annoyed or tired
n yes dont come near me when im not smiling
i might just lash it out at u :p