Interview with Wei Wei Hu
Tonight, the Dutch news for children
will show an interview with Wei Wei Hu, the girl that was kidnapped a
week ago. It looks like she acted very brave,
realizing that she should not panic, she kept on talking to her kidnapper,
even convincing him to throw away the knife.
Giel Beelen
Last Monday, Giel Beelen, a notorious DJ,
stripped naked when
announcing the Sugababes on the Pinkpop festival.
This was shown on Dutch television. This same week I saw a
commercial of him where he
appeared naked as well.
Venus transit
Yesterday evening, I discovered that I could watch the sun using
my MC 3M-5CA, 500 mm telescopic lens and some
piece of paper to get a reasonable viewable image of the sun. This morning,
around 7:25 local time, Annabel and I went
outside to have a look at the sun. We indeed saw a very little black dot, just
at the border of the sun. The Venus transition had started. When we looked
fifteen minutes later, it had become even clearer. I took the lens to my office,
and when I arrived there my colleagues and I could see a clear black dot on the
sun.
Lost against Martijn
Yesterday, I played against Martijn with an eight stone
handicap, and I lost. I did write down the whole game, but I do not
know whether it is such a good idea, because it is
rather distracting. I did miss some good opportunities to beat him. There was
one move that I did not examine in enough depth to make it, as it would surely
have killed a large group. And I lost another move due to a stupid move.
Annabel played three
games, and then walked around all the time, not showing much interest in the
game. She went over to a boy who caught a big fish from the pond in front of the
building. She even took a picture of him holding the fish with his camera. At
the end she complained that it was taking so long for me to finish my game. I
wonder if I should bring her the next time. She doesn't have the ability to
concentrate for a long time. I am getting the impression that
child prodigies are
special, not because they have such an exceptional intelligence, but because
they have an exceptional ability to concentrate on a certain subject for a very
long time.
Today, with all my colleagues we
went to in Elahuizen, a small village in Friesland, to go sailing on the
Fluessen lake. While driving their, I introduced one of my colleagues to
Go. We arrived around ten o'clock at the water sport
center "De Fluessen" and had some coffee
and tea with some Frisian cake. Outside the Eelkje II was waiting for us.
This steel boat was built a hundred years ago as a chargo vessel. Now it is only
used for racing and for groups like ours to cruse the lake. It races in the
IFKS A class and got second place two years ago.
It is 21 meters long (after it
was extended by two meters some years ago). The main boom weights 750 kilo.
(In 2002, a 80 cm replica was made of this boat for the
miniature city Madurodam.)
It is a flat-bottomed boat, which means that it relatively easy capsizes,
This happens about once every year. It already happened once this year, just
two weeks ago during a race. Luckily the lake is not very deep.
Before we left Rindert, the captain, gave us some instructions. During a race it needs
a crew of twelve people. Because the wind was rather strong (4 to 6 Beaufour),
all of us needed to work to keep the ship running. We all received a cap
and a body warmer with the logo of our company. We were also required to
wear a life vest. Two of my colleagues and I, decided to help Joep, the captains
helper, with the jib (foresail). To prevent us from capsizing during a gust
of wind we should be ready to pay out the clew to ease the jib at any moment.
This meant we could not tie the clew but had to hold it (around a bitt) all the
time. Two persons were needed to hold the clew of the main sail. Two were needed
for controlling the two lee boards, one on every side of the ship. And then some
people were needed to help hoist the sails with the winches.
We left around eleven. After we had changed tack several times, Rindert
came to instruct us about the correct procedure. The clew of the jib was
attached to a sliding bar with two pulleys, and everytime Joep
had some problem to get the lower pulley to behind the notch on the
bar. The correct way to do is, was first to change the clew to the bitt on
the other side, then when the ship started to turn to pay out the clew, and
then when it wanted to move to the other side, the helper simply kicked the
bar and made the lower pulley slide along the bar to the other side. After
which we had to pull it tight again. It took us some practicing to get the
hang of it, but we never got to do it flawless.
Around one o'clock we arrived at Gaastmeer, another small village, where we
had a simple lunch consisting of soup, bread, and a croquette as a hot snack.
Then around half past two we left again, and stayed on the lake until about
half past five. When we came close to the harbor first the main sail was
lowered. The lowering of the jib came a little late, with the result that we
went into the harbor with a little too much speed. (Because it was a racing
boat it only had an outboard motor, not powerfull enough to reduce the speed.)
I was with about five other colleagues standing on the front of the boat
and some of them already became a little frivolous with the harbor in sight
and having made it so far without getting wet. Joep was busy with getting
all the buffers in place, when suddenly Rindert, the captain, started to
shout and we realized that we were moving to fast and had to stop the boat
quickly. Luckily we were able to throw a robe around a pole and managed to
stop the boat with three of us just within a few meters from another boat,
the Anna van Oranje.
In the evening we were served what the Dutch call a
Captains dinner. Around eight o'clock we went home. When we stopped along
the road at a gas station, we saw a strange rainbow
high in the sky hanging in cloud, it seemed.
(follow-up)
This afternoon, Andy walked to Li-Xia when they were in the library, with a video tape in his hand saying
that something was wrong. And indeed, when Li-Xia looked at it, it turned
out that the tape did not match the box. Again an example of how good his
memory is, and of his obsession with video tapes.
Cause of Kabuki Syndrome uncertain
It seems that so far, nobody has been able to reproduce the findings of
Dr. Milunsky
with respect to Cause of Kabuki Syndrome.
Today, I read some message that
Dr. David Geneviève reported that they did not find the
duplication of chromosome 8 in the p22-23.1 region in the thirty children
that they investigated.
It looks like this could mean a number of things:
- There is more than one cause for Kabuki Syndrome, and Dr. Milunsky has
found one. It could be the case that one gene is either activated or
deactivated with individuals having Kabuki Syndrome, and that one of the ways
this happens is by the duplication on chromosome 8, but that with others it is
caused by another type of genetic defect, possibly even on another chromosome.
- The Kabuki syndrome is really a collection of syndromes and Dr. Milunsky
has found one such syndromes with it underlying genetic cause.
- Some children have been given the wrong clinical diagnoses with respect to
Kabuki syndrome either by Dr. Milunsky or Dr. Geneviève.
I think the last option is most unlikely of them all. Anyway it seems that the
development of a blood test for Kabuki Syndrome is still far away and that we
still have to live some time with the fact that only a clinical diagnoses can
be made, with all it uncertainties.
(follow-up)
Cars on top of the television
Yesterday afternoon, Andy became angry at
Annabel after she dropped the cars he had put on
top of the television. When Li-Xia decided to help him
to put the cars back on the television after she had sent Annabel away, she
discovered that it was not easy to put them exactly as he did. This is quite
remarkable because Andy's motor skills are behind. He is rather fond of stacking
toys, and can get become rather angry when something is he fails to do it as he
wants. Sometimes, he just want to stack his toys in a way that is totally
impossible, and then start to become rather annoyed asking us to help him.
Usually there is a whole row of toys and video tapes on the table in the living
room. And if we move them in the evening, he starts to complain when he comes
down in the morning.
Cause of Kabuki Syndrome (Cont'd)
This morning, I read on the Kabuki Syndrome mailing list, that so far 30
children have been found by Dr. Milunksi and his team that have the
duplication in the 8p22-23.1 region. Of course, I raised the question how
many children have been tested and with how many they did not find the
duplication.
(follow-up)
Janique
Yesterday, I watched the program (from the
No Going Back serie) about Phil and Jayne Gaskin, a English couple
who, with their three children moved to a small island along the
Nicaragua Atlantic Coast, which they renamed into Janique. In 2001,
Mark Halliday visited them. They encountered some problems with
respect to the
ownership of the island. The program ends when Phil died from an
asthma attack. The Guardian has
a story that goes a little further. My general impression is that
Jayne Gaskin is a rather selfish and stupid person. I wonder what will
come out of her children. For sometime there was even
a web site about Janique, but
that is gone as well.
Today, I received more news with respect to the cause of the Kabuki Syndrome.
There is going to be a short article in American Journal of Medical Genetics
with the title
On the reported 8p22-p23.1 duplication in Kabuki
make-up syndrome (KMS) and its absence in patients with typical KMS.
One of the co-authors is Dr. Norio Niikawa, who is one of two
persons who independently described it in 1981, and thus should be regarded
as one of the expert on the syndrome. The article deals about the
duplication reported by Milunksi and Huang. It reports about unsuccesful attempts
to find the duplication in 28 Japanese cases with Kabuki in 28 cases.
Although they do offer an alternative explanation for this, they also
strongly suggest that the cases that Milunsky and Huang are not Kabuki
Syndrome in the following quote from the article: "From our examination
of the facial photographs of cases 1 and 2 in the report by Milunsky and
Huang [2003], they may not have typical KMS and could be 8p23.1-p22
duplication syndrome." One could thus conclude that Milunsky and Huang
have found a new genetic syndrome that, although it has some simalarities
with Kabuki Syndrome, still should be regarded as an independent syndrome.
According to the tradition that syndromes are named after those that
discover them, it is likely that this it will become known as Milunsky
Syndrome.
Of course, this news is rather disturbing for a number of parents, that
always had though that their child had Kabuki Syndrome, and now are
confronted with the fact that it might be changed into Milunsky Syndrome.
(follow-up)
Stimulus-value-role theory
Yesterday evening, I read
an article that made mention of the stimulus-value-role theory of
Bernard I. Murstein.
According to this a relationship devops in 3 stages:
- stimulus stage: represents the time the couple first meets; based
primarily on physical attraction
- value stage: encounter 2-7; the "getting to know you stage." Do you share
values, beliefs?
- role stage: playing the part (role): eg. boyfriend/girlfriend,
husband/wife, best friends
(This description was taken from
an introduction to psychology.) This, of course, also happens in all
kinds of other relationships that we have with the people we encounter
throughout our life, and maybe it even applies to how organisations and
companies establish relationships.
Florian Speth
Yesterday evening, Annabel and I went to the final
exam performance of Florian Speth as a student of Conservatorium Enschede. It
was a little different from what I had expected, and also a little louder, but
it was interesting never the less. There were thirteen others playing together
with him, in different combinations, during the eight songs being performed. He
is a member of Clueless
who's lead singer, Tim van Doorn, was one of the thirteen that helped.
Jack Ryan is the former husband of
Jeri Lynn Ryan, the actress who played "seven of nine" in Voyager. According to
this article
on CNN he pressured her for public sex.
Yesterday evening, Annabel and I went to
the Go club. It was rather quiet, but not everyone had cancelled because of the
soccer match between the Netherlands and Letland. I played a game against
Jan-Willem, who is a 2 Kyu player. We decided that I would start with nine
stones on the board, and I lost with 56 stones, which is actually not too bad
when taking into the consideration of the 16 point difference in strength. But
just like two weeks ago, I could have won if I had
made a move that I did consider for a moment.
It would have killed a group of Jan-Willem and saved a large group of myself
becoming dead. Actually, I noted that this group was dead when it was too late
already to save it. I did make some attempts, but they all did not result in the
desired effect. Jan-Willem felt that I did not make any big mistakes, and made
all the necessary moves. The lesson that I have learned is that every move that
tempts to kill more than one stone of the opponent, and which he can attack
again, is interesting enough to investigate. I have always found it hard to
think a number of moves ahead.
Then we watched the ongoing game between Rudi and Martijn while also keeping
an eye on the television where there was a report of the two soccer games that
were relevant for the Netherlands going to the next round. (In the end the
Germans lost their game, and the Dutch won, and so the Dutch soccer team will go
to the next round, and the Germans will have to go home.)
Martin Medema also walked by and had a quick look at
the ongoing game. He mentioned that he always lost when playing
Memory
against children. I told him that the is not to try to remember any have the
cards that have been turned. I have noticed that if you do this, you often
simply know immediately where the first card of a pair is when the second one is
turned. I guess that this is also how children are doing it. It seems that if
you try to remember where some of the cards are that you only can recall the
locations of those that you have remembered and not any of the others.
When we drove home there was an usual amount of cars in the streets, possibly
of people going home after having watched the soccer match with friends or going
somewhere to celebrate the victory.
(follow-up on Martin)
It looks like Dr. Milunsky
gave a presentation on March 6, 2004 from 11:15-11:30 during the
2004 Annual
clinical genetics meeting of the American
College of Medical Genetics which was held from March 2-7. 2004 with the
title "Refinement of the Kabuki syndrome critical region". The abstract (no
longer available on-line) is:
Kabuki syndrome (KS) is a well recognized multiple congenital
anomaly/mental retardation syndrome. We recently documented an 8p22-8p23.1
duplication in 6 unrelated KS patients by comparative genomic hybridization
(CGH) and BAC-FISH. The size of the duplication was delimited to approximately
3.5 Mb. No duplication was observed in their parents. We now have studied a
total of 13 unrelated KS patients by CGH and additional BAC-FISH probes. 6/13
KS patients appear to have the approximately 3.5 Mb duplication. 7/13 KS
patients have smaller overlapping duplications of various sizes within the
candidate region ranging from 0.83 Mb to 3.4 Mb. All KS patients and their
mothers have a heterozygous submicroscopic inversion at 8p23.1. The candidate
region lies between two complex low-copy repeats (LCRs) similar to other
genomic disorders. These LCRs likely mediate unequal crossing over and
generate different size duplication products as we have demonstrated in our
cohort. These studies further refine the KS critical region and narrow the
minimum critical region to 0.68 Mb.
Could this be the reason that others have not find the duplication yet? And
maybe also explain why the cases that have the larger duplication (as reported
earlier) look less like traditional Kabuki Syndrome. So maybe this means there
is Milunsky Syndrome after all?
(follow-up)
The Family Divided
Yesterday evening, I watched the first episode of
Dr. Phil Family: "A Family Divided. I was really amazed about how smart the
thirteen-year-old Katherine was. Although she held some strong opinions,
she seemed to be the smartest of them all, and while being kind of "excluded"
by the others, still loving them and seeking what is best from them. It was
clear that Dr. Phil was rather supportive of her when he gave her
a hug during the show, and afterwards told her that he would give her his
private telephone number. In a few years Annabel
will be as old as her, and I hope she smart as well. It really fills me with some
worries when I realize how quickly girls
can grow-up.
Andy goes to group 3
This afternoon, I discussed Andy's school
report with some of the teachers of group 1. They are rather satisfied with his
progress, and told me that next year he will go to group 3. Because the school
has four pairs of groups on the same level, it means that he only goes up one
level. Tomorrow he will be informed about this and also bring his school report
home. The school report will also contain the list of pictograms that he knows,
the text and music of songs he learned, and a number of things he made
throughout the year. Next Tuesday all children will go to their new group to
meet the new teachers.
Official oldest living person celebrate birthday
Today,
Hendrikje van Andel-Schipper celebrates her 114th birthday.
She is still in good health and with a clear mind. Although she the official
oldest living person, there are always
some who claim to be older: Hanna Barysevich of Belarus born on May 5,
1888 and Hamida Musulmani born on 1877 according to a the census held in
1932. Anyway, I wish all this women good health and many more years to live!
During the lunch break I went to "Hal D" to see some of the Final Examination
work of some AKI student. Most of it I did
not very interesting, except for a "thing" made by Sabrine Basten, which I did not see at first, because it is all made out
of very thin wires, and clothes made by Jorien Schulten, which I found very intersting. It looks
like her clothes are made to give you a certain feeling when you put them
on. Somehow it made me remembering wearing the body warmer while sailing
some weeks ago.
I also got a map of the AKI mupi-route.
More art
Today, I went to see the rest of the exhibition. I did see some interesting
things, such as a funny video by Floor van Slochteren: a kind of
philosophical dialog between a serious and a
not so serious person. Ayuk Kupems has an interesting cutting technique. Maika
Ammann has some interesting long exposure pictures where he plays with light.
Kim Kalu is organizing an art auction.
This months interesting links
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