Journal articles

[Guest guest]

> I read Rob s story, thinking this guy is very funny, & then I

> read your comment. Would love to know how long its taken him to get

> so knowledgeable about this stuff? Rob, these documents you quote

> from from - are they available on `the net`?

I knew very little about my own BPEI (only found out its name when I was

25!) until I had a son 11 years ago who needed some BPEI-related

surgery. At that point it suddenly became serious, so I got to work

learning what I could, with the help of my wife (formerly a librarian,

fortunately).

Unfortunately, the technical journal industry is very protective of its

expensive intellectual property. I've had very little luck finding full

text & picture journal articles on the internet. But the publishers and

the medical databases (like Medline/Medscape) allow searches, and

provide abstracts (one or two paragraph summaries) and full

bibliographic details. Armed with such details, I've been able to go to

my local public library or the nearest children's hospital library, and

ask them to get copies of the interesting-looking articles through

inter-library loan. It's free or has a nominal fee (<$10?) per article,

and sometimes the photocopying quality leaves something to be desired,

but it's reasonably painless and effective if slow. The online

publishers and databases also let people (or sometimes only doctors, who

are almost like people) order the articles directly, for a fee of

course. Being in Oz I can't really do that, but the USA-based folks out

there might be in a better position to try it.

The articles, even if written in " English " (ha! More Latin and Greek

than English), are usually somewhat incomprehensible to us mere

Earthlings. We bought a good medical dictionary (Stedman's, but there

are others) and I give it quite a thrashing when trying to decypher the

articles. I can then usually make sense of only about 50-60% of the

articles, assisted by the gory diagrams and photos. Just enough to get

me confused and into trouble. Note also that many of the articles are

quite old. Some date from the 1950s & 60s, when the techniques to undo

BPEI were still being worked out, as were the clothes & hairstyles.

There doesn't appear to have been much published since then in terms of

basic BPEI surgical techniques. The more recent articles are more about

genetics or summarise the older articles. Then again, I haven't actively

looked for journal articles for about 5 years, and that was for

entropion/trichiasis repair rather than straight BPEI as such.

Enough typing, it's 11:50pm, time for snoozy-bobos. God bless y'all.

Rob

[Guest guest]

Thank you for the info Rob!

> > I don't really get what you just wrote, so you are saying that

this

> > article quoted that TYPE 1 is more common in males, and usually

their

> > daughters are not affected by BPES, and TYPE 2 more common in

females

> > and usually their sons are not affected by BPES????

>

> Not quite. It's saying that fathers with type I BPES usually have

male

> children (most of whom also have BPES), and fathers with type II

BPES

> usually have female children (most of whom also have BPES). It

didn't

> say how likely it is for daughters of type I fathers or sons of

type II

> fathers to be affected. However, it also talked about " ... type I

where

> there is transmission by males only and affected females are

infertile.

> In type II ... transmission occurs through both sexes. "

>

> It doesn't say whether the offspring of either type or sex are

(likely

> to be) type I or type II. Maybe the full articles or others do.

>

> > I'd be really interested to see these articles.

>

> The references are:

>

> [1] 'Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES

> syndrome)'; Oley and Baraitser; Journal of

Medical

> Genetics 1988 (vol 25), pages 47-51

>

> [2] 'The blepharophimosis, ptosis and epicanthus inversus syndrome:

> delineation of two types'; J Zlotogora, M Sagi & T Cohen; American

> Journal of Human Genetics 1983 (vol 35), pages 1020-1027

>

> You might be able to order these through your local library for a

modest

> fee. I doubt they're available online because (a) they pretty much

> pre-date the Interweb thingy, and ( journal publishers are very

> protective of their intellectual property; but they might be. We

got

> some from our nearest childrens hospital's library (info service

for

> parents) and its genetic counselling service. Some web sites will

let

> you order technical journal articles like these over the Interweb

thingy

> (pay over the net, paper articles delivered by mail). A Google

search

> for the authors and 'blepharophimosis' will find plenty of

references to

> these and others.

>

> Rob W.

[Guest guest]

Rob, I know that articles you refer to because my picture is in the first

one!

But I wonder, these were written some time ago, and there has been

considerable research since then.

Are we not better off referring to the article by Elfride De Beare?

Shireen