From MedicalXpress
New technique provides novel approach to diagnosing ciliopathies
Cilia, the cell's tails and antennas, are among the most important biological structures. They line our windpipe and sweep away all the junk we inhale; they help us see, smell and reproduce. When a mutation disrupts the function or structure of cilia, the effects on the human body are devastating and sometimes lethal.
The challenge in diagnosing, studying and treating these genetic disorders, called ciliopathies, is the small size of cilia—about 500-times thinner than a piece of paper. It's been difficult to examine them in molecular detail until now.
Professor Daniela Nicastro and postdoctoral fellow Jianfeng Lin have captured the highest-resolution images of human cilia ever, using a new approach developed jointly with Lawrence Ostrowski and Michael Knowles from the University of North Carolina School of Medicine. They reported on the approach in a recent issue of Nature Communications.
About 20 different ciliopathies have been identified so far, including primary ciliary dyskinesia (PCD) and polycystic kidney disease (PKD), two of the most common ciliopathies. They are typically diagnosed through genetic screening and examination of a patient's cilia under a conventional electron microscope.
The problem is, conventional electron microscopy is not powerful enough to detect all anomalies in the cilia, even when genetic mutations are present. As a result, the cause of ciliary malfunctions can be elusive and patients with ciliopathies can be misdiagnosed or undiagnosed.
Nicastro and her team developed an approach that includes advanced imaging technique that entails rapidly freezing human samples to preserve their native structure, imaging them with transmission electron microscopy, and turning those images into 3D models. This cutting-edge imaging was in part made possible by the advanced instrumentation in the Louise Mashal Gabbay Cellular Visualization Facility at Brandeis. It is the first time this approach has been used on human cilia and patient samples.
Kidney News
Fundraiser to assist in transplant process
Noel Resor deals with a lot of the things life throws at a typical teenager.
There is a struggle she faces, though, that not many others her age do.
It’s a kidney disease with a long, complicated name, and it will keep her dealing with dialysis or kidney transplants her entire life.
“It’s not even a day at a time; it’s a moment at a time,” Resor said of living with focal segmental glomerulosclerosis.
The disease attacks and scars kidneys, eventually disabling their filtering abilities.
Diagnosed in May 2013, Resor, who turns 16 today, is finally poised to make it on the kidney transplant list.
A fundraising drive is under way to help with costs when the time for a transplant comes, and the latest fundraising effort was Friday evening.
Live music at the Starbucks on West Jefferson Boulevard and free-will donations brought the total raised to about $33,000.
The goal is $75,000, with donations possible at www.cotafornoelr.com, a site sponsored by the Children’s Organ Transplant Association.
Although a new kidney will make life a little less complicated, it doesn’t come with any guarantees for a full cure or recovery.
About 40 percent of new kidney recipients have the condition return after surgery, according to COTA.
Getting ready for the donation list has been no easy feat. Medications she was on delayed when she was eligible, plus working through other obstacles slowed down the process.
“We have now cleared all the hurdles with paperwork and insurance,” said Mark Resor, Noel’s dad.
The search for a donor also continues, with Kathy Carnes, registered nurse and transplant coordinator at Indiana University Transplant Center in Indianapolis, heading up the effort. Carnes can be reached at 317-944-4370 by anyone who knows of an interested donor. [Read more]
From IndyStar, Indianapolis, Indiana, by Shari Rudavsky
Noel Resor deals with a lot of the things life throws at a typical teenager.
There is a struggle she faces, though, that not many others her age do.
It’s a kidney disease with a long, complicated name, and it will keep her dealing with dialysis or kidney transplants her entire life.
“It’s not even a day at a time; it’s a moment at a time,” Resor said of living with focal segmental glomerulosclerosis.
The disease attacks and scars kidneys, eventually disabling their filtering abilities.
Diagnosed in May 2013, Resor, who turns 16 today, is finally poised to make it on the kidney transplant list.
A fundraising drive is under way to help with costs when the time for a transplant comes, and the latest fundraising effort was Friday evening.
Live music at the Starbucks on West Jefferson Boulevard and free-will donations brought the total raised to about $33,000.
The goal is $75,000, with donations possible at www.cotafornoelr.com, a site sponsored by the Children’s Organ Transplant Association.
Although a new kidney will make life a little less complicated, it doesn’t come with any guarantees for a full cure or recovery.
About 40 percent of new kidney recipients have the condition return after surgery, according to COTA.
Getting ready for the donation list has been no easy feat. Medications she was on delayed when she was eligible, plus working through other obstacles slowed down the process.
“We have now cleared all the hurdles with paperwork and insurance,” said Mark Resor, Noel’s dad.
The search for a donor also continues, with Kathy Carnes, registered nurse and transplant coordinator at Indiana University Transplant Center in Indianapolis, heading up the effort. Carnes can be reached at 317-944-4370 by anyone who knows of an interested donor. [Read more]
The two kidneys could have passed in the air somewhere over Tennessee.
Dinah Sampson's organ traveled last week to a South Carolina transplant center, where surgeons then placed it in the body of a person Sampson had never met.
At about the same time Indianapolis surgeons were removing her kidney, a stranger in South Carolina underwent the same procedure there. That kidney would then have to be ferried to the airport and flown to Indianapolis.
Just as Sampson's kidney was transplanted into the South Carolina patient, surgeons in a St. Vincent operating room replaced the failing kidney of Sampson's father with one that had started the day in a South Carolina stranger's body.
Two healthy donors, two sick recipients. In organ transplant circles, the whole procedure is called a kidney swap. But to Sampson and her father, Ed Hanson, a better phrase might be lifesaver.
Spring 2014.For the past seven years, Hanson's kidney function had been failing. His nephrologist told him to expect to need dialysis soon. In April, the day came and the Porter County man started at-home peritoneal dialysis.
The alarm on the machine he used at night went off every two hours, interrupting his sleep. So, he switched to manual dialysis, which required him to hook up to an IV pole four times a day.
In June, St. Vincent came to his local dialysis center to pitch their relatively new transplant program, which they offered in collaboration with Cleveland Clinic surgeons. Hanson, 66, was intrigued.
Summer 2014.As Hanson started preliminary testing for a transplant, his daughter Dinah Sampson, 36, stepped forward to give him a kidney of her own.
"I feel like it's just a foregone conclusion, anything I can do to help him," she said. "I was open to anything that could give him a kidney."
On Aug. 21, Hanson was approved to go on the lengthy waiting list for a kidney from a deceased donor.
The next day, Sampson started her own testing. She knew it would be a long shot. Her blood type was A and his O, making them most likely incompatible. But about 20 percent of people with blood type A can donate to those with O, said Tami Rader, living donor transplant coordinator at St. Vincent Health. On Sept. 5, the family learned that Sampson did not fall in that 20 percent. [Read more]
Portadown Times, United Kingdom
A Portadown man has made the ultimate gift, by donating one of his kidneys to a friend.
Mark Boyce, who plays for Bourneview FC, is already making a speedy recovery after the operation just over a fortnight ago.
One of his kidneys was transplanted into his friend of 12 years, Donaghcloney man Justin Weir, who suffers from the hereditary polycystic kidney disease.
Justin had been waiting for a suitable kidney since May 2011, when both of his organs had to be removed, and was relying on dialysis to stay alive.
Mark (30), who is married to Judith and has two children, said, “I could see Justin’s health deteriorating. Going out and doing normal things was becoming impossible for him and he was really starting to miss out on his kids growing up.
“I knew his wife Sharon had been tested to become a living donor and she was a match, but not a great one, so I started making a few enquiries of my own.”
Unusually for a non-relative, Mark’s kidney tissue was found to be a very good match for Justin’s.
Said Mark, “I didn’t want to tell him until I knew for sure because I didn’t want to get his hopes built up.”
The first thing Justin knew of his friend’s secret tests came in an out-of-the-blue text. He said, “Mark was talking about the great view from the 11th floor. At first I thought he was away in an hotel somewhere.
“But the renal unit is on the 11th floor at the City Hospital and then I thought there might be something wrong with him so I phoned him. All I could do was say thank you.”
Justin had already endured false ‘dawns’ - he had been called for transplant three times but on each occasion his blood had proved incompatible.
And, on the day of the operations, Justin insisted on being wheeled down to the recovery ward and making sure that Mark was OK before allowing the kidney to be transplanted.
Mark, who is a committed Christian and a member of St Francis Church of Ireland, Annaghmore, said that once he had made up his mind to donate his kidney he had no second thoughts. [Read more]
DIALYSIS MUSEUM AT NORTHWEST KIDNEY CENTERS, SEATTLE
Seattle has many unusual if obscure attractions — like the gum wall at the Pike Place Market. Here’s another one that’s a bit more educational: a dialysis museum.
The Northwest Kidney Centers opened the free museum two years ago to celebrate its 50th anniversary as a pioneering medical treatment center. People who find old medical devices intriguing and those whose lives have been touched by kidney disease are most likely to seek out this display.
The museum shows the history of dialysis through machines and photographs including some early hospital models from the 1940s, and home and travel machines from the 1960s. Some machines were one-of-a-kind devices created with spare parts, including a “traveling kidney” in a suitcase. Details: http://www.nwkidney.org .
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