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Hugh Davies

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Feb 5, 1995, 9:15:51 AM2/5/95
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In article <950129231...@phy.mtu.edu>
smmc...@phy.mtu.edu "Sean M. McAfee" writes:

> performing the domestic duties, for fear of injuring their balls. Imagine
> hauling your basketball-sized testicles out on the hunt, and having them
> gored by an antelope or something. Ugh.

One of the splendid courses I did at college as part of my biochemistry
degree was on various diseases. One of the best diseases we came across
was elephantiasis, where a worm blocks the lymphatic circulation, the lymph
cannot escape from the affected limb, which as a result swells up to 2
or 3 times its normal size. There was an excellent picture in the text
book of two black African guys with elephantiasis of the *scrotum*. Each
had a ballsack about the size of a pillow. The penis was completely stretched
into the surface of the testicles and just appeared as a hole. One of these
guys had his testicles in a wheelbarrow. I can't imagine what the treatment
was.

Next week's disease; Leisch-Nyhan syndrome. This was in the course "Inborn
disorders of metabolism" where we meet such splendours as Phenylketonuria,
where ingestion of the amino acid phenylalanine causes brain damage so severe
that the IQ gets into single figures, and Ondine's Curse, where autonomic
control of breathing fails, so that sufferers suffocate when they go to
sleep.

Regards,

Hugh.
--
Hugh Davies. Computer Consultant, Bedfordshire, England.
The road to Paradise is through Intercourse.

Geoff Miller

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Feb 5, 1995, 3:28:11 PM2/5/95
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[Hugh's catalo[g,ue] of tasteless diseases deleted]

You know, until recently I thought the film "The Great White Hope"
was a documentary about sickle cell anemia.


Geoff

--
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Tae H Kim

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Feb 8, 1995, 7:14:59 PM2/8/95
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Ellen Cotter (ZU0...@uabdpo.dpo.uab.edu) wrote:

: Lesch-Nyhan syndrome is damn fascinating. L-N babies are born with teeth and
: a compulsion to bite their lips and fingers. They're frequently called "Jesus
: babies" because their arms have to be strapped out to their sides (a la
: crucifixion) to prevent them from eating their fingers and hands off.Sorry,
: no GIFs. They have severe mental retardation and progressive neurological
: degeneration, so they don't live very long. Hugh, can you provide any more
: information?

Well, since Mr. Davies so soundly trounced my ability to differentiate
between cold and flu viruses, as well as pus and mucus, let me try to
redeem myself.

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

(Lesch-Nyhan Syndrome)

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is the enzyme that
converts the purine bases hypoxanthine and guanine to inosine
monophosphate (IMP) and guanosine monophosphate (GMP), respectively, and
the X-linked recesive disorder due to its complete deficiency is
characterized by central nervous system dysfunction and purine
overproduction with hyperuricemia and hyperuricosuria. Depending on the
residual activity of the mutant enzyme, male hemizygotes may be severely
retarded and show choreoathetosis, spasticity, and compulsive,
mutilating lip and finger biting, or they may present with only gouty
arthritis and urate ureterolithiasis. The enzyme deficiency can be
demonstrated in erythrocytes, fibroblasts, and cultured amniotic cells;
this disorder can thus be diagnosed with certainty in utero.

Some characteristics of X-linked recessively inherited diseases:

1) Affected individuals are nearly always males

2) The mother is usually the carrier. She transmits the disease to half
of her sons; i.e., there is a 50% chance that each of her sons will be
involved. She may on occasion show mild symptoms of the disease.

3) One-half of a carrier mother's daughters will be carriers. All of the
affected father's daughters will be carriers.

4) The uninvolved sons do not transmit the disease.

5) There is no father-son transmission.

Although the cause of the central nervous system dysfunction on
Lesch-Nyhan syndrome remains obscure, the absent or less severe central
nervous system manifestations of purine nucleoside phosphorylase
deficiency (in which HPRT is functionally inactive because of lack of
substrate) suggest that the problem relates to accumulation of substrate
behind the block.

Allopurinol and probenecid may be given to reduce hyperuricemia, but
they do not affect neurologic status. Insertions of the HPRT gene into
cultured cells from affected patients and into experimental animals have
been effective and offer promise as models for human gene therapy in the
future.

Source: _Current Pediatric Diagnosis and Treatment_, 9th Edition, 1987.

ObTGlossary: choreoathetosis

A derangement marked by ceaseless occurence of slow, sinuous, writhing
movements, especially severe in the hands, and performed involuntarily.

One of the root words for choreoathetosis is chorea, which reminds me of
an ObT:

One Thanksgiving I responded to a call for a 'woman with slashed
wrists.' Upon arrival, my partner and I found a woman in her
mid-forties, wearing nothing but a kitchen apron, in the kitchen of her
apartment. A neighbor told before we entered the apartment that the
woman had 'Huntington's chorea.'

Huntington's chorea: a relatively common autosomal dominant disease
charactertized by chronic progressive chorea (see above) and mental
deterioration terminating in dementia. Death usually follows within
fifteen years of diagnosis.

Of course, I didn't know that back then.

When we entered the kitchen there was the woman, wearing only an apron
that had 'Kiss the Chef' silk-screened on it; one of her wrists had a
large laceration that was bleeding profusely. She paid us no mind, as
she was busy stuffing a large turkey with the contents of an entire jar
of Hellman's mayonnaise. To make things worse, she was using her injured
wrist, and the turkey was covered with clotty, congealing blood, with
the mayonnaise stuffing a dark pink color.

We tried to convince her that it was okay to leave the turkey behind and
to accompany us. We almost had her on the stretcher when my partner
remarked:

"There'll be other Thanksgivings ..."

In retrospect that was probably not the thing to say to a woman who knew
her death was possibly a few years away. Anyway, with a load screech she
broke away from us and ran back into the kitchen. We chased her into the
kitchen only duck for cover as she hurled the turkey-mayo-blood bomb at
us. Luckily, she bought a large turkey and wasn't able to throw it
accurately; missing us completely, but hitting the wall next to us. The
impact of the turkey *squeezed* the blood and mayo from the depths of
the bird, splattering the floor. We had to wrestle her to the ground and
strap her to the stretcher - which wasn't easy as we all had mayonnaise
on us by that time. To think other people pay for this kind of thing.

- Tae

Julian Macassey

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Feb 14, 1995, 9:11:41 AM2/14/95
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In article <792584...@axalotl.demon.co.uk> Hu...@axalotl.demon.co.uk writes:

>While we're on the tasteless disease kick, there's a super article in this
>week's New Scientist, about a species of leech that lives in hippopotamus
>rectums. It has a whole series of adaptions to allow it to do this, and
>breeds only in hippo assholes. *Now* I know why they didn't let us near
>the water when we were hippo watching in Kenya. It's not because of the
>hippos, but hippo ass leaches... Wonder if Hollister wants some?

I gave up the New Scientist. Got tired of paying for tales of
endangered whales and PC articles. I paid for New Scientist, not New
Ager.

Anyhow, I would assume that the Hippo arse leeches would be
just the thing to help with the haemorrhoidal swelling. Enough of them
should be able to suck the blood from those swollen tissues. This
would allow Hugh to finally take a comfortable shit.

So, next time you are in Kenya (Soon to go the way of
Somalia), take your bathers. No second thoughts, swim naked with the
arse cheeks held apart.


--
Julian Macassey, N6ARE jul...@bongo.tele.com Voice: (414) 457-0874
Paper Mail: 210 Bleyer Drive, Sheboygan, Wisconsin 53081-8714

Hugh Davies

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Feb 24, 1995, 5:37:25 PM2/24/95
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In article <1995Feb14.1...@bongo.tele.com>
jul...@bongo.tele.com "Julian Macassey" writes:

> I gave up the New Scientist. Got tired of paying for tales of
> endangered whales and PC articles. I paid for New Scientist, not New
> Ager.

It's got better recently. And I don't *pay* for it. My employers have
a reference library. Anyhow, I ain't worried about no bleeding
bunny-huggers.

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