Showing posts with label RAH. Show all posts
Showing posts with label RAH. Show all posts
I shalt not be wrapped up in exam scoring
You know those times when you sit down by yourself and have a meal by the window and think this is the life?

Well, it's not.



Getting very tensed, annoyed and chronically very tired these few days. Not sure if it's the exams or the decision making or the shit that has been happening these days.


Happy Valentine's day.


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#7 Fragile X
It is said to be the most common cause of heritable mental retardation second only to Downs.

It is caused by a distruption in the expression by either an nucleotide expansion or deletions of FMR1. A dominant X-Linked gene (FMR-1; familial mentral retardation 1) *trying to type the longest sentence ever expressed in a single breath*

Loss of the FMR1 expression results in Fragile X.

Clinically they will present with;
Pre-pubertal; Normal growth but a large head, Delayed developmental milestones, an association with autism, ADHD, tantrums.

Post-puberty; Long face, low IQ, Macroorchidism

other opthalmo, orthopaedic, dermato and cardiac anomalies.


Reason for nerding today?
I saw a 5 year old boy suspected for Fragile X in the clinic today. He came in due to a refusal to eat food other than kwey teow soup and drinks milk every 2 hourly. Outward appearance appeared normal, none of what has been described above; plus his mother mentioned that she was also slow to walk when she was younger. Eye contact was surprisingly- still held, but otherwise he would definitely have struck me as an autistic child.

I also met a child who was then diagnosed with spastic hemiplegia CP. Such an adorable 16 month old, who smiles incessantly and active as ever. Yet his mother cried when the doctor confirmed her worst fears -- that her baby wasn't normal. Cried even more when he advised her to apply for the OKU card actually.

Hmm. makes me wonder if there could be something between me and paeds. as much as its painful to go through the milestone examinations I'm starting to feel how Bern could be so attached to the little darlings. CP's are generally quite common but I think that encountering a Fragile X for the first time was quite.... mentionable. (there is no such english word)
Guess they aren't only found in textbooks under 'rare'.

Oh yeah talking about rare; there was a Henoch schonlein purpura case in the wards today.

YUP. you could see the 'WHAT?!' s on top of all our heads when the specialist came up with the diagnosis. Upon inspection I thought it was a freaking healing chicken pox (but i did reason out that if it was he would have probably been isolated) !!

Anyways paeds has been quite eventful thus far.


No quote today but I'll show u a picca

:)



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CAN we do this YES WE CAN
*I ended up lugging the keyboard to the last Livingstone meeting anyway.*

***

Shall I tell you about my day today ? Class ended at 11am, went to the Fresher's tent till about 11.30, qued at student desk till about 12.15, took bus 10 to Fitzwilliam st to JPA office, took 10 to Mater to find dr L, then went to town to get groceries. Ended up breaking my trolley bag's TROLLEY (like watheheck bye bye bag) handle and bought crazy heavy groceries. Yes, I brought my handluggage bag -the one i used for 12 day travels- for grocery shopping. Cus I had had the very noble intention to let Dle get a day's rest and the very noble me decided to get groceries to cater for a 100 people expected bbq. So exactly how heavy is heavy? Uterus prolapsing type heavy. Needing to push a trolley from Marks and spencer down Henry st all the way to the 46a bus stop opposite the spire kind of heavy. Needing to call JH to meet me at the bus stop opposite our house with another trolley from Supervalue cus I couldnt move at all with the 3 bags kinda heavy. Tried to make it back before 1700 but only reached home around 1730.Peeps came over to bake for the BBQ tmr at 1800ish---- all the way to 2300.

Now where do i insert 'study' here again?


***
For all the tuts that I've crashed, I feel a biiiiiiit guilty lah since it's so obvious that the whole 'we're gonna have a short MCQ prior to the commencement of each tutorial session and it'll be worth 5% of your total marks' aimed to stop people from joining unassigned tutorials ... or just skipping the tuts entirely. And I quote a lecturer ' im not saying u guys are like our guinea pigs or something....'.

Uhuh.



Oh before I forget; mechanisms of cerebral edema :
1. Vasogenic (BBB, intercellular)
2. Cytotoxic (intracellular)

I keep mixing it up with hydrocephalus. Wattth -___-"


Dang , im tired. Dunno why it feels alot like deja vu~

On a happier note;
Happy Birthday Pwei, Mhui, Wkt! =) (3 cheers for the OLDDDD Peoples!)


**BBQ at half 6 tmrw (16th sept) at the Chaplaincy. Join us for the annual Living Stones term breaking activity =) **



ps- And its almost like I have a personal timer on my blog telling me when to update. If ur wondering at the absurdity of my post, it's cause I feel like I have nothing else to talk about, considering my brain is half asleep and my fingers are merely moving on reflex.

Gnight.

Forgive, O Lord, my little jokes on Thee,
And I'll forgive Thy great big one on me.
~Robert Frost, "Cluster of Faith," 1962
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