Sunday, May 22, 2016

Dialysis or Transplant, Which to Choose; Pioneering Transplant Technique; Using Genome to Diagnose PKD; World Hypertension Day; PKD: Walking & Crusin'; Pay it Forward

Living with PKD

From The Health Site, by Debjani Arora


If someone is suffering from kidney problems, where the organs have ceased to function to its optimum a kidney transplant is always preferred over the procedure of dialysis. However, there can be some practical problem which might delay kidney transplant – finding a matching donor, the health of the patient and other parameters that need to be taken into consideration. However, if the kidneys are in a detrimental state, which a urine report high in creatinine can point out and transplant is not possible, dialysis is the next best option.

‘Once the function of the kidneys drops exponentially, the creatinine level in the blood rises to fatal levels. In such a situation, the heart can literally just stop. In this scenario, doctors purify the blood of the patient by a mechanical process called dialysis. This entails connecting the patient to a machine which filters blood. However, unlike the natural kidneys, the dialysis machine also sucks out a lot of important nutrients from the blood. Thus, patients on dialysis become fragile and cannot survive beyond a few years,’ Dr Anup Ramani, Uro-Oncological & Robotic Surgeon, Lilavati, Breach Candy, Saifee Hospital.

Hence, dialysis is a temporary option when it comes to treating diseased kidneys. Once the patient gets a donor, which can be a blood relative or a friend who is willing to donate a kidney, the chances of survival of the patient increases manifolds. However, there are situations when even with a donor a patient might have to wait for the procedure to take place. For instance, high blood pressure or diabetes can pose a threat to the patient. These health conditions need to be brought under control before taking the procedure of transplant further. Other health conditions that can prevent one from gettting a kidney transplant are cancer, dementia,obesity with a BMI over 40. However, it is better to consult with your doctor on which treatment option will be the best for you. If you don’t suffer from any ailment other than deteriorating kidney and have a donor, it would be ideal to opt for a transplant over dialysis.




From Chronicle Live, United Kingdom, BY CRAIG THOMPSON


Brian Richards of Houghton-le-Spring, County Durham, who is living life to the full after a pioneering kidney transplant at Newcastle's Freeman Hospital

Brian Richards of Houghton-le-Spring, County Durham, who is living life to the full after a pioneering kidney transplant at Newcastle's Freeman Hospital


Brian Richards received a kidney which previously would not have been deemed suitable for transplantation

A dad from Washington has become one of the first in the UK to receive a life-saving transplant via a pioneering new method.

Brian Richards is today living his life to the full just weeks after undergoing surgery at the Institute of Transplantation, at Newcastle’s Freeman Hospital.

Brian, 61, was the first patient in the North East to receive an organ via the technique which takes donor kidneys, previously deemed unsuitable for transplant, and assessing whether they can work properly on a specialist perfusion machine outside the body.

It is hoped the new method will increase the number of transplants using organs which, traditionally, were not considered suitable.

Dad-of-two Brian was diagnosed with polycystic kidney disease three years ago, an inherited condition in which fluid-filled cysts develop in the kidneys leading to serious organ damage.

Colin Wilson, a transplant surgeon at the Freeman Hospital, carried out Brian’s operation in March this year.

He said: “This is a very exciting development for our patients waiting for a kidney transplant.

“Everything went smoothly with the kidney perfusion and Brian was discharged 10 days after his transplant with no complications.

“His new kidney is working well and he has not required any dialysis since the operation.”

The technique, which warms the kidney to body temperature to assess how well it’s working before a decision on transplantation is made, was developed by Professor Mike Nicholson from the University of Cambridge.

Professor Nicholson is now working closely with the team at the Institute of Transplantation to increase the supply of donor kidneys for transplantation.

This medical advance was made possible by funding from Kidney Research UK, Northern Counties Kidney Research Fund and the National Institute for Health Research (NIHR).

Brian, from Washington, said: “I was the first patient at the Institute of Transplantation to receive a kidney using the perfusion technique.

“I’m feeling really well and full of life. I’ve had no complications following my operation and I’ve not had any rejection of the organ. [Read more]




From Channel 9, ABC local affiliate, Whitfield County, GA, BY SARAH JENNINGS


Scotty Ownbey Pays it Forward!

Pay it Forward reaches another exciting milestone!

Since the weekly segment started on Monday nights at 6, nearly three years ago, NewsChannel 9 along with the McMahan Law Firm have awarded YOUR hometown heroes with $78,000!

This week's story unfolds at Miracle League of Whitfield County where Scotty Ownbey, our original $500 Pay it Forward recipient, shares a true miracle that's been in the making since our very first episode aired on June 3rd, 2013.

Scotty's story has come full circle since we last met at his job in Dalton. He was at the center of the big surprise from a co-worker who recognized his incredible optimism, loyalty and perseverance despite a hereditary kidney condition called polycystic kidney disease.

Almost three years later Scotty shouts "hello" from across the Miracle Field parking lot and it's hard for me to hold back my elation.

He tells me how he continues to work at the same job with his same great colleagues, but struggles more physically as his search for an organ donor has continued.

Polycystic kidney disease claimed his mother's life and now threatens his own.

After many failed attempts Scotty is excited to share the news that he recently found a donor in an unlikely place, his goddaughter's father.

"He and I have been friends for 14 years and he's my match!"

Scotty's talking about Evan Bailey, or Bailey, as he's known by friends.

"It's a true blessing from God that Bailey's in my life and I can't help but think that this is why," Scotty says.

Scotty is getting a second chance at life and a chance to fulfill the vow he made when Bailey's 11-year-old daughter, Trinity, was born.

"I know he knows how grateful I am because we've talked about Trinity growing up and who knows what she'll become, but now I'll get to find out."

Bailey and Trinity are on their way to Miracle Field where they know we're following up on Scotty's journey, but have no idea why we're all really there. [Read more]



From India Today, by Nikita Bhalla

World Hypertension Day: Everything you need to know about the condition

Along with being at a high risk of heart diseases and diabetes, you are also prone to hypertension, courtesy today's high stress levels and sedentary lifestyles.
Hypertension--the silent killer--is a medical condition that often remains undiagnosed until relatively late in its course. Affecting one billion people worldwide, the condition can be explained as, blood pressure levels exceeding 140/90mm Hg.

About 90 per cent of hypertension cases have no known cause and are triggered by a host of factors, including a genetic predisposition, high stress levels, poor dietary habits, obesity and a few other health issues.

It is estimated that the number of hypertensive adults will increase from 972 million in 2000 to 1.56 billion in 2025, leading to a rise of about 60 per cent--out of which, around 10 per cent of the population suffers from secondary hypertension--caused by a pre-existing disease.

SYMPTOMS

Dr Harish KV, managing director, General Medicine, Apollo Clinic, Bangalore, shares six insights that may indicate hypertension:
Severe headache
Blurred vision
Breathlessness
Fatigue and sleepiness
Nausea
Nose bleeding

Discussing the symptoms and the disease's discovery, Dr SK Agarwal, senior interventional cardiologist, Kailash Hospital and Heart Institute, Noida, says, "Routine screening for secondary hypertension is not required unless one of these symptoms is present--blood pressure greater than 180/110 mm Hg with its onset below the age of 25 or after 50, a family history of polycystic renal disease and/or enlarged palpable kidneys, suspected renal disorder, high blood pressure that does not respond to medication and a combination of headaches, palpitation and perspiration."

He adds, "Women on birth-control pills who are over the age of 35, obese and/or smoke must also be educated about their heightened risk of secondary hypertension."

Speaking about the same, Dr Manoj Kumar, associate director & head, Cardiac Cath Lab, Max Super Specialty Hospital, New Delhi, says, "There are various diseases like diabetes, thyroid, polycystic kidney disease, aortic narrowing, sleep apnea and obesity that cause secondary hypertension. High blood pressure may also be a side effect of medication, such as hormonal contraceptives and non-steroidal anti-inflammatory agents. Timely intervention can control both the underlying cause and the high blood pressure caused due to secondary hypertension, thereby reducing the risk of serious complications, including heart diseases, kidney failures and strokes." [Read more]




PKD Research

From Genome Web, by Ciara Curtin


Researchers at the Garvan Institute of Medical Research in Australia said last week that they can diagnose rare, monogenic diseases more than half the time using whole-genome sequencing.

According to Mark Cowley, who presented the work at the Biology of Genomes meeting at Cold Spring Harbor Laboratory last week, this diagnostic rate is much better that the 25 percent rate typically observed with whole-exome sequencing.

His lab is currently undergoing an assessment by the Australian National Association of Testing Authorities — similar to CLIA certification in the US — to offer clinical whole-genome sequencing to diagnose patients with rare genetic disorders. It has already used this approach to diagnose patients with autosomal dominant polycystic kidney disease, hereditary spastic paraplegia, and other disorders.

"Ultimately, the goal we are trying to achieve here is to start off in a clinical environment with patients and their families seeing clinical geneticists, being counseled for the test, going through sequencing, bioinformatics, and clinical interpretation [to produce] a clinical report," Cowley said. "Hopefully, this clinical report returns a positive diagnosis for the patient … and improves the clinical management of that patient."

While whole-genome sequencing picks up coding and structural variation that exome sequencing may miss, clinicians and researchers often turn to exome sequencing because of the reduced cost. In the US, Cowley noted, a genome sequence could cost three times as much as an exome sequence.

However, Cowley said that because of Illumina's pricing strategy, the difference in cost between whole-genome sequencing and whole-exome sequencing is smaller in his lab than in others.

Institutions that run a lot of exomes, he noted in an email to GenomeWeb, have stronger buying power and, because of that, their reagents, and thus exomes, are cheaper than at other, lower-bulk institutions.




PKD Awareness

From News Dispatch, LaPorte, IN, By MATT CHRISTY

Car enthusiasts go Cruis'n for a Cure for PKD

Car enthusiasts go Cruis'n for a Cure for PKD

Car enthusiasts go Cruis'n for a Cure for PKD

Photos by Matt ChristyClassic cars cruise down Ind. 2 Sunday afternoon as part of the 40-mile Cruis'n for a Cure for PKD.

The cruise with a cause returned Sunday to the La Porte County Fairgrounds where the 8th Cruis'n for a Cure for PKD brought together car enthusiasts and owners in an effort to raise money toward research for the genetic kidney disorder.

Polycystic kidney syndrome is a genetic disease one in 500 Americans are born with, said organizer Laura Moyer, who knows the cost of the disease firsthand as she not only was born with PKD herself, but comes from a family where 15 people have been diagnosed with the disease.


PKD is one of the most common life-threatening diseases with more than 12.5 million people worldwide having the genetic disorder. The disease causes cysts to form on both kidneys, which eventually leads to the organs shutting down and a transplant needed to survive.


"The kidney is your livelihood in your body. It does a lot of functions. Once that shuts down, you either have to have dialysis or get a transplant," Moyer said.


Moyer, who serves as the volunteer chapter coordinator for the Northern Indiana Chapter of the PKD Foundation, has lost aunts, her grandfather and her mother to PKD, only spared herself thanks to a kidney donation made possible by her husband.


"My husband donated (his kidney) so I could get a kidney," Moyer said, the donation part of a kidney chain. "He wasn't my blood type, but because he was able to give a kidney it guaranteed I would get a kidney."


On Sunday, more than 50 cars lined up around the fairground's lawn despite the cold weather and strong wind. From 1956 Ford Thunderbirds to Lotus's to brand new Dodge Chargers and even military Hummers, the variety was on display as the cars rolled out from garages and from beneath covers to gleam in the sun, even if the owners had to warm up by sitting inside for a bit.


"Everyone is itching to get their vehicles out," Moyer said. "They've been sitting all winter."


With last year attracting around the same number of vehicles despite having better weather, Moyer was happy to see so many of the same faces back to support the fundraiser.


"A majority of these people come every year to support this fundraiser. I'm very appreciative of that. They know what it's for and I'm always thankful they come back," Moyer said.


After the car show, vehicles took off down Ind. 2 where they went on a 40-mile cruise around the county to end back where they began.


Thanks to sponsors like Root Funeral Home, Meijers, Family Express, the VFW and the La Porte County Fairgrounds, all the food, drinks and cost were covered, letting 100 percent of the money raised from the car show and cruise go toward the PKD Foundation as a cure continues to be sought for the disorder.


"It takes things like this to raise awareness not just for PKD, but for organ donation," Moyer said. "That's what it's about, that organ donation and saving lives."


To join the search for a cure, check donations can be made out to the PKD Foundation and sent to 3178 S. 150 West, La Porte, IN 46350.




From Michigan City LaPorte IN Events

Walk for PKD


Saturday, September 17, 2016
9:00AM - 11:30AM

Northern Indiana Walk for PKD – 2-Mile Walk Sat, Sept 17, 2016. Check in 9am; Walk 10am at Creek Ridge County Park – Michigan City, IN. For more information, please contact Walk Coordinator,northernindianawalk@pkdcure.org. Polycystic Kidney Disease (PKD) affects thousands of Americans and 12.5 million children and adults, worldwide. There is no treatment or cure, but there is hope. Walk, form a team, help with the committee, volunteer and more! Register online and take advantage of a host of effective and Free online team features like emailing members, tracking team progress and fundraising tools. Contact the PKD Foundation for more information on how you can help.www.pkdcure.org. Come join us.www.walkforpkd.org/northernindiana.

Contact

Laura Moyer
northernindianawalk@pkdcure.org
219.878.3062

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