Entries Tagged as ''

Haplotypes in the Complement Factor H (CFH) Gene: Associations with Drusen and Advanced Age-Related Macular Degeneration

by Peter J. Francis, Dennis W. Schultz, Sara Hamon, Jurg Ott, Richard G. Weleber, Michael L. Klein

Background

Age-related macular degeneration (AMD), the leading cause of blindness in the Western world, is a complex disease that affects people over 50 years old. The complement factor H (CFH) gene has been repeatedly shown to be a major factor in determining susceptibility to the advanced form of the condition. We aimed to better understand the functional role of this gene in the AMD disease process and assess whether it is associated with earlier forms of the disease.

Methodology/Principal Findings

We genotyped SNPs at the CFH gene locus in three independent populations with AMD: (a) extended families where at least 3 family members had AMD; (b) sporadic cases of advanced AMD and (c) cases from the Age-Related Eye Disease Study (AREDS). We investigated polymorphisms and haplotypes in and around the CFH gene to assess their role in AMD. CFH is associated with early/intermediate and advanced AMD in both familial and sporadic cases. In our populations, the CFH SNP, rs2274700, is most strongly associated with AMD and when incorporated into a haplotype with the Y402H SNP and rs1061147, the strongest association is observed (p<10?9).

Conclusions/Significance

Our results, reproduced in three populations that represent the spectrum of AMD cases, provide evidence that the CFH gene is associated with drusen as well as with advanced AMD. We also identified novel susceptibility and protective haplotypes in the AMD populations.

Distally based sural neurocutaneous pedicle flap

Abstract  The distally based sural neurocutaneous flap is technically simple and characterised by limited morbidity. It is one of the therapeutic alternatives for the coverage of small ormiddle-sized soft-tissue loss in the distal third of the leg, at the level of the ankle and of the heel. This flap is based on a retrograde flux originating from the superficial sural artery. It depends on the perforating arteries originating from the peroneal artery. It can be harvested as a skin paddle or as an island flap. It will not lead to major artery sacrifice. It is a reliable flap, which can be performed on diabetic as well as arteritic patients. Its best indication is for the coverage of heel decubitus ulcer. Finally, it can be used for management of soft-tissue defects, especial...

Medicine guides for parkinsonism and related topics published online

The Medicine Guides for parkinsonism and related topics have been published on the Medicine Guides web site at the above link; the list of conditions covered are:

• Parkinsonism
• Amyotrophic lateral sclerosis
• Epilepsy
• Essential tremor
• Extrapyramidal side-effects
• Flu
• Influenza
• Motor neurone disease
• Muscle spasm
• Myoclonus
• Parkinson’s disease
• Restless legs syndrome
• Side-effects of medicines (reducing extrapyramidal effects)
• Sweating
• Tremor (essential)
• Wrinkles (Source: NeLM Headline News)

Visual Verification: do you want the good news or the bad news?

As I’m sure every blind Internet inhabitant knows, accessibility is problematic for us visually impaired people on many web sites, thanks to the proliferation of visual-only CAPTCHAs. These are the distorted characters you have to copy to get into some web sites. The reason for their use is understandable enough. These sites are trying to stop spammers using automated systems to put rubbish on to their sites. I’m sure that’s a sentiment we can all go along with. The problem is the way the sites implement the CAPTCHAs. Usually they are visual only, though some sites are now providing a sound alternative. Not that all of the audio alternatives are easy to use, but it’s a step in the right direction when major providers such as Google implement audio CAPTCHAs.

Well, today I’ve come across several obstacles, and one site that was a delight to use. Let’s start with the good news.

Being a busy screen reader user, I wanted to try something a little less wearing than the default Microsoft voices in Windows XP. I tried the Acapela web site, which has several high-quality voices for download.

http://www.acapela-group.com/demos/desktop.asp

To get any voices to download, yes you have to pass a CAPTCHA, but the version they have there has an audio alternative, and that audio alternative is spoken in a high-quality voice, very easy to hear. Their DVDs containing software are also Brailled, incidentally, so they are clearly doing their best to be accessible.

Well, that’s the good news. I was very disappointed when trying to join the VLC Media Player Forum to find a visual-only CAPTCHA preventing me from getting in. Having a little residual sight, I tried to fathom out the CAPTCHA, but all attempts failed. Considering what a wonderfully accessible program VLC Media Player is, it was a nasty surprise to discover that they had an inaccessible forum.

http://forum.videolan.org/viewforum.php

The other bad news doesn’t come from my own experience, but was mentioned by someone on a mailing list I belong to. This person said tat when trying to reply to an e-mail from someone in inbox.com, he had to pass the same kind of visual verification in order to be able to reply.

http://www.inbox.com/

They are not the only web-mail service that puts up such a barrier by any means, but it is disappointing to discover more of them!

Update 29th November 07. The latest in my Rogues’ Gallery of inaccessible sites is JLC’s Internet TV Forum. A CAPTCHA again that I thought I could crack, but I couldn’t get it right. They offer an email contact for visually impaired people, at least but I’m waiting for a reply, and don’t know how long it’s going to take. Hear my claws drumming on the table??

Update, Jan 1st, 2008. Well, I still haven’t had that helpful e-mail from JLC Internet TV Forum. Happy New Year, guys.

The BAT!

Contacting the World: radio ham raises money for IT For All

CQ, CQ, CQ….. is there anybody out there????

From the British Computer Association of the Blind web site…..

Quote
“Contacting The World
Terry Robinson has once again agreed to take part in the CQ Worldwide CW (Morse) amateur radio contest, to raise money for BCAB’s EyeT4All initiative. During a 24 hour marathon over the 24th/25th November, Terry will be contacting radio stations from around the world on six different frequency bands.

“Last year, Terry was the winner in the single operator, all band, high power category for Scotland, with an accredited score of over 868000 points. Will this year be the million point blockbuster for Terry?

“Please support Terry as he undertakes this challenge. The EyeT4All initiative is aimed at introducing simple, affordable access technology to people with visual impairments. Head to the Just Giving CQWW page to show your support for this worthwhile cause. Thank you. “
End of quote.

The page to go to is

http://www.justgiving.com/cqww

The target for Terry’s effort is £2,000. You’ll see from the page that so far the money raised is £135. Come on, you tight lot, you can do better than that! As Bob Geldof would say, well, I don’t need to repeat what he said!

The BAT!

Norfolk, Suffolk, East Coast UK floods/high tide

In the unlikely event that someone in the threatened are finds themselves here, here are some emergency contacts.

The latest news (Friday 0:30am) suggests that the surge in the high tide is expected on the east coast of England will peak between 5 and 8 am later this morning. the real danger time seems to be 7am.

Some useful contacts:-

Listen to radio Suffolk
http://www.bbc.co.uk/radio/aod/suffolk.shtml

Listen to Radio Norfolk
http://www.bbc.co.uk/radio/aod/norfolk.shtml

Environment Agency – preparing for emergencies
http://www.environment-agency.gov.uk/contactus/348254/?version=1&

This site has ben extremely busy. You may get a “gateway timeout” message.

Environment Agency Floodline – 0845 988 1188 (local call rate)

The BAT!

Facebook: a Smile on the Face of Big Brother

If you’re keen on making millions of so-called ‘friends’ online through social networking sites such as Facebook, or you just keep a blog or send e-mail, you might be interested in a BBC radio programme first broadcast tonight.

Called “With Friends Like These”, the programme serves as a timely reminder of how public we all are when participating in the Internet, and how permanent our traces are once we’ve left them there.

Presented by Ben Hammersley, this is part of Radio 4′s Analysis series.

URL for the programme…

http://news.bbc.co.uk/1/hi/programmes/analysis/7081638.stm

So, what are you doing? We all want to know!

The BAT!

Treatment of 73 cases of bed sores with warming moxibustion

Summary  Seventy-three patients with bed sores were treated by warming moxibustion. Of the 73 cases, 58 cases were cured, 12 cases improved and 3 cases ineffective, with an effective rate of 95.9%. Content Type Journal ArticleCategory Clinical ReportDOI 10.1007/s11726-007-0317-9Authors Jian-wei Duan, Rushan People’s Hospital Shandong 264500 P. R. ChinaLi-li Duan, Kangning Hospital of Rushan City Shandong 264500 P. R. China Journal Journal of Acupuncture and Tuina ScienceOnline ISSN 1993-0399Print ISSN 1672-3597 Journal Volume Volume 5 Journal Issue Volume 5, Number 5 / October, 2007 (Source: Journal of Acupuncture and Tuina Science)

Things not to say to a blind person lesson 1.5

Today I had one of those classic “Blindness Awareness for Beginners” experiences that must happen to millions of us around the world.

My heating died. I called an emergency plumber. It was cold. I’d also been defrosting the freezer. Blue is such a cold colour, if it’s fingers.

He arrived rather late in the day. Very helpful, very jolly, couldn’t understand why anyone had a problem with one of these modern boilers, they being so simple and all. Great laugh, and he took one look at it and diagnosed the problem.

“Not enough pressure,” he muttered, and with a flick of the wrist put it right. He didn’t know how to switch it on though, so I was useful for something. Flick of the wrist, and I turned the thermostat to the GO position.

“Right, watch this, look,” he said, and I started to have sinking feelings. Poor guy was trying to be helpful, but…

“Well, I am blind, so I can’t see much, I’m sorry.”

“Look, you do that one and that one until the meter’s on the green, and that’s it.” Just 3 impossible things before breakfast then, I thought. Never mind the re-green blind, blind was enough to be going on with. And he left.

Ah well, I did find one thing roughly where his hands had been twiddling things, though I don’t know which direction does what. God only knows where the second thingy was that he moved.

So please, if you’re sighted, just remember my mantra. “Don’t say this, that, here, there, this one, that one, the green one, or look here.”

If you don’t get it, and you’re sighted, I won’t blame you, as a lot of folk seem to have a block about this sort of thing even when they know you’re blind.

The BAT!