REPOST: Certain genetic variants may influence progression of kidney disease

A new study published in the Journal of the American Society of Nephrology suggests that patients who have variants in the apolipoprotein L1 (APOL1) gene are more likely to have an advanced form of focal segmental glomerulosclerosis (FSGS), a kidney condition characterized by scarring in the organ tissue, at the time of diagnosis. Additionally, African Americans are more likely to develop FSGS compared with European Americans, according to the research. The findings are discussed in the article below. 

The researchers found that 72% of African American participants with FSGS - a form of kidney disease - had variants in the APOL1 gene.

Image Source: medicalnewstoday.com

A new study suggests that patients with focal segmental glomerulosclerosis - a type of kidney disease - may have a more advanced form of the condition at diagnosis if they possess certain genetic variants, with this association being strongest among African Americans.

The researchers, including Dr. Jeffery Kopp of the National Institutes of Health, publish their findings in the Journal of the American Society of Nephrology.

Focal segmental glomerulosclerosis (FSGS) is scarring in kidney tissue that affects more than 5,000 people in the US every year. Symptoms of the condition include foamy urine (caused by excess protein), weight gain, swelling (caused by excess body fluids) and poor appetite.

According to the researchers, FSGS is known to be more common among African Americans; compared with European Americans, African Americans are four times more likely to develop the condition.
 
Previous research has indicated that African Americans are at higher risk of chronic kidney disease (CKD) due to variants in apolipoprotein L1 (APOL1) - a gene that makes a protein that forms a part of high-density lipoprotein (HDL), referred to as "good" cholesterol. Around 5 million African Americans possess such variants.

72% of African Americans with FSGS had variants in APOL1

For their study, Dr. Kopp and colleagues assessed how APOL1 variants influenced FSGS among 94 individuals of variety of ethnicities, including African American, Hispanic and European American.

From analyzing genetic data and health information for each participant, the researchers found those that had variants in the APOL1 gene were more likely to be at an advanced stage of FSGS when they were diagnosed with the condition. In addition, 72% of participants who identified themselves as African American were found to possess such variants.
 
The researchers also found APOL1 gene variants in two Hispanic participants and two European American participants; these variants have never before been reported in these ethnicities, according to the researchers.

Dr. Kopp and colleagues also tested medication response among individuals with APOL1 gene variants.

Past research has shown that people with two variants in APOL1 react to glucocorticoids - a class of steroid hormones - showing a reduction in the amount of protein secreted in urine. Many of these individuals, however, continue to progress toward kidney failure.

On testing cyclosporine and mycophenolate mofetil - immunosuppressant drugs used to prevent organ rejection after transplantation - among participants in this study, the researchers found they produced similar effects in subjects with APOL1 variants as glucocorticoids.

Commenting on this finding, Dr. Kopp says:

"New therapies targeting APOL1 injury pathways are needed, as standard therapies do not work for many people with this gene variant."

Overall, the researchers hope their study - described as reporting one of the strongest ever genetic associations for a common disease - helps to improve diagnosis and treatment of FSGS.
 
Commenting in an editorial linked to the study, Dr. Christopher Larsen, from Nephropath - a biopsy interpretation practice in Little Rock, AR - and Dr. Barry Freedman, of the Wake Forest School of Medicine in Winston-Salem, NC, describe the results from Dr. Kopp and colleagues as "informative."

They note, however, that the findings are not encouraging because the majority of individuals with variants in APOL1 experience poor outcomes.


Dr. Paul Frymoyer is a nephrologist practicing in Manlius, New York. Click here for interesting discussions on nephrology trends, issues, and research.

REPOST: Ultrasound vs. CT for Kidney Stones

A new study suggests that ultrasound is a better option than CT scans in the initial diagnosis of kidney stones as the latter is more expensive and exposes patients to significant amounts of radiation. The study advocates change in standard practice, emphasizing that simpler, cheaper, no-radiation technology is just as good as sophisticated treatments. Read more on the article below:  

Image Source: nytimes.com

For the initial diagnosis of kidney stones, ultrasounds may be a better choice than CT scans, a new study has found. Both techniques may be effective, but CT scans are more expensive and deliver a large dose of radiation.

For the study, published in The New England Journal of Medicine, researchers randomly assigned 2,759 people presenting with symptoms of kidney stones in the emergency room to one of three groups: ultrasonography by the E.R. doctor, ultrasonography by a radiologist, or a CT scan.

There were no significant differences among the groups in serious adverse events, average pain score after seven days, return visits to the E.R., hospitalizations, or diagnostic accuracy. Some patients in the ultrasound group went on to have CT scans as well, but even among the majority who did not, there was no difference in outcomes.

The lead author, Dr. Rebecca Smith-Bindman, a professor of radiology and epidemiology at the University of California, San Francisco, said that there were some findings on ultrasound that might need a CT scan as a follow-up. But for the initial diagnosis, “this is a clinical area where we now do CT scans and can safely replace them with ultrasound. If patients know that it is a good option, they can ask for it. This is a good place for patients to become their own advocates.”

Dr. Paul Frymoyer is a recognized authority in nephrology and other healthcare matters. He has saved countless lives in Africa through his expertise and experience, and continues to deliver quality healthcare services to nephrology patients. Visit this Facebook page for more information about his practice.

REPOST: Afraid of Ebola? Here are 7 Things More Likely to Kill You

With the recent news about the Ebola virus and the threat it has posed to many of our citizens, News Week provided an article listing 7 things more likely to kill you than the Ebola virus.

Image Source: www.newsweek.com

With news that the deadly Ebola virus may have reached America’s densest, most populous city yesterday, many Americans are freaking out. And some in the media are fanning the flames because, with Israelis and Palestinians not killing each other for a few hours, we don’t have anything else to write about. But you’re not going to catch Ebola. The chances of you getting it are, like, practically zero. If it’s even here, which it might not be. But there are lots of other things that can — and will — kill you. Here are just a few.

1. Being stung by a bee: A bee could kill you. The most recent statistics show that 54 Americans died from bee stings in 2000. But what if you got stung by a bee with Ebola? It’d be a BeeBola.

2. Food poisoning: One time I ate a salad from Wendy’s and got food poisoning. It was pretty bad, but I didn’t die. But 3,000 people do die, every year, from food poisoning. The salad was also bad, in case you were wondering. Not as bad as Ebola, but still.

3. Kicked by a horse/fall from a horse/malicious horse: Over 100 people die every year from “equestrian related activities,” according toRiders4Helmets.com. I don’t know what all falls under the umbrella of equestrian related activities, but it’s probably this kind of stuff: 

4. Party Too Hard: Classic American death scenario. Around 88,000 American deaths every year are attributable to excessive alcohol use, according to the CDC. Between 2006 and 2010, more than 1,000 Americans partied so hard that they got drunk and set themselves on fire.

5. Accidentally shoot yourself: Another iconic American way to die. Have a gun? Why not take a selfie with it? What’s the worst that could happen? You could shoot yourself in the head or somewhere else, I guess. Whatever. #YOLO.

6. Killed by Batman: As we all know, the Caped Crusader abhors killing. But the Georgia roller coaster that takes his name has no such compunctions. In 2008, a rider was decapitated trying to retrieve his hat, which had fallen off during the ride. That’s one more person than Ebola has killed in America.

7. Malaria: If you want a disease to be worried about, forget Ebola. Try malaria instead. In 2012, malaria killed more than 600,000 people in Africa, which is about 600 times as many people as Ebola has killed so far. Seriously: you might catch malaria and die.

Dr. Paul Frymoyer has saved countless lives during his work in the African continent where he treated people with malaria.  Visit this Twitter page to see more of his works.

REPOST: In newest analysis for Human Microbiome Project scientists re-define what's healthy

What does it truly mean to be healthy? This article from Medical News Today tries to tackle the question by examining microbiome changes. 

As scientists catalog the trillions of bacteria found in every nook and cranny of the human body, a new look by the University of Michigan shows wide variation in the types of bacteria found in healthy people.

Image Source: telegraph.co.uk

Based on their findings in the journal Nature, there is no single healthy microbiome. Rather each person harbors a unique and varied collection of bacteria that's the result of life history as well their interactions with the environment, diet and medication use.

"Understanding the diversity of community types and the mechanisms that result in an individual having a particular type or changing types will allow us to use their community type to assess disease risk and to personalize their medical care," says lead study author Patrick D. Schloss, Ph.D., associate professor of microbiology and immunology at the U-M Medical School. 

Additional findings reveal bacteria can be grouped into community types that are predictive of each other.
"What was unexpected was that it was possible to predict the type of community a person had in their gastrointestinal track based on the community in their mouth," Schloss explains. "This was possible even though the types of bacteria are very different in the two sites."

Image Source: livescience.com

The Human Microbiome Project is the movement to understand how changes in the microbiome are associated with changes in health.

More than 200 scientists in the HMP consortium spent five years analyzing samples from nearly 300 healthy adults. The samples came from 18 different places on their bodies, including their mouths, noses, guts, behind each ear and inside each elbow.

Schloss and co-author Tao Ding, Ph.D, revealed it is possible to associate a limited amount of data from the subjects with their community type.

Whether a person was breastfed was associated with their gut community type, level of education was associated with the vaginal community type, and one's gender affected several body types as well.
For the study, U-M researchers were not able to associate any of the changes in community type with changes in health.

"What our data shows is that just because a person's microbiome is different doesn't make it unhealthy," says Schloss. "It demonstrates there's more to learn about the factors that cause one's microbiome to change."

Image Source: edbites.com

Understanding why community types change will be useful in developing therapies that can alter one's community type using pre- and probiotics, fecal transplants or antibiotics.

Dr. Paul Frymoyer’s views on health and healing were put to the test during a visit to Malawi, Africa, to provide medical treatment to its residents. Visit this Facebook page to learn more about breakthroughs in the field of medicine.

REPOST: Toddler With Rare Kidney Disorder Beats Odds After Transplant Fails

A child born with a rare kidney disorder called Finnish type congenital nephrotic had managed to recover after the kidney transplant donated by her mother failed due to blood clot. ABC News reports on the toddler's surprising recovery.

Image Source: abcnews.go.com

 
Ayana Richards said she will never forget waking up in the hospital to find out that the kidney she donated to her 3-year-old daughter had failed.

The doctor came in two hours after initially telling Richards the transplant was a success to say that a blood clot had destroyed the new organ beyond repair.

“I remember him having tears in his eyes,” said Richards, who lives in New York City. “I have to take pause because that moment, I think, is one of the lowest points in my life I ever had.”

But the doctors at Mount Sinai weren’t willing to give up so easily.

Anaya –- which is Ayana Richards’s first name spelled backwards –- was born with a rare kidney disorder called Finnish type congenital nephrotic syndrome, an inherited disorder that caused her kidneys to “leak” vital proteins. Normal kidneys take in blood and sift out waste, which goes to the bladder and leaves the body as urine. Anaya’s kidneys were causing her to expel important proteins through her urine in addition to the waste. Since proteins are needed for everything from keeping blood from clotting inside the body to making the immune system function, Anaya’s health was in jeopardy.

“In the past, if you didn’t do anything, there’s no doubt she would have died as an infant,” said Dr. Jeffrey Saland, who cared for Mount Sinai’s Kravis Children’s Hospital, where Anaya would eventually get her transplant.

But neither Richards nor Anaya’s pediatrician knew Anaya had this disorder when she was born. After all, it’s common among people of Finnish descent, and Anaya was black and Hispanic.

“As a first-time mother, I didn’t know what to expect, just what she looked like,” said Richards, who was the first in her family to move to the United States from Trinidad and initially didn't have her mother around for guidance. “But you know that instinct. I just knew that something was wrong.”
Anaya cried a lot during her first two months of life, Richards said. She also threw up a lot and wasn’t as aware as Richards thought she should be.

But one day, the crying changed. It was piercing.

“I remember running her on foot to Harlem Hospital,” Richards said. “I knew the ambulance wouldn’t have been quick enough.”

That night, they relocated to New York Presbyterian Hospital, where doctors did a spinal tap and discovered that Anaya had bacterial meningitis. After a series of tests, they found out Anaya got meningitis because of the effects of her kidney disorder.

One doctor told Richards the disorder was so rare that she should be able to go outside blindfolded, play the lottery and win.

“He was trying to up my spirits, but I didn’t want to be lucky that way,” she said.

They sent Anaya home with a central line in her chest so Richards could give her regular infusions and injections of the proteins her kidneys removed. But the tube was prone to infection and clots because of Anaya’s condition.

“She needed a central line to live, but the central line could also cause something that can kill her,” Richards said, explaining that Anaya came down with several infections.

After Anaya got an infection that caused her head to swell to the size of a basketball, Richards started thinking about a kidney transplant to allow Anaya to live without the central line and its risks.

Richards took Anaya to Mount Sinai’s Kravis Children’s Hospital, where Saland was on the team that cared for her.

“We said the only way to prevent these issues is not to be in this situation anymore,” Saland said.

Read the full story here 

Dr. Paul Frymoyer is a nephrologist from Manlius, New York who has journeyed to Africa to provide medical services to poor communities. Check out his full profile here.

REPOST: Powerful Photos from the 2014 World Photography Awards Shortlist

Finally it is released! From an entry list of 140,000 images, the 2014 Sony World Photography Awards has come up with a shortlist. See the images in this article from Time LightBox.

 

 Image Source: lightbox.time.com

Covering everything from an inside look at domestic abuse, to shots of the typhoon-hit Philippines, the shortlist for the 2014 Sony World Photography Awards was narrowed down from a staggering 139,544 images submitted from 166 countries. Released today, the list includes professionals such as Sara Naomi Lewkowicz – who produced follow-up work on her powerful domestic abuse-focused project for TIME – Chloe Bartram, Mario Wezel, and amateurs alike. Categories range from Contemporary Issues to Arts & Culture, with the category winners being revealed March 18, 2014, and the overall winner being announced April 30, 2014. Here is just a small selection of entries. For a full list see the Sony World Photography Awards website.

A graduate of Rensselaer Polytechnic Institute, Dr. Paul Frymoyer considers sports, photography, birding, and nature hiking as his interests outside of his profession. Visit this Facebook page for more links to articles about photography.

REPOST: 5 reasons Malawi is Africa's next go-to destination

CNN lists some of the reasons why Malawi should be your next destination for an African safari.  Named one of top 10 places to visit in 2014 by Lonely Planet, the country offers numerous tourist attractions that are waiting to be explored. 

(You'll find smooths sands on the beaches of Lake Malawi.) Image Source: cnn.com

Lilongwe, Malawi (CNN) -- Despite a majestic lake stretching through its eastern border that gives way to beautiful beaches, Malawi is the African country less-traveled.

But it's the place to be if you want to enjoy a natural paradise without everybody else.

Though it hasn't become a booming destination like Tanzania, Kenya or South Africa, Malawi has numerous attractions.

Named one of the top 10 places to go in 2014 by Lonely Planet, Malawi is one of the lesser known destinations on the travel guide's annual list, which includes Brazil, Sweden and the Seychelles. The country is touted for its wildlife and beaches. But there's more to Malawi than animal parks, warm sands and Madonna's adoptions.

1. The locals are friendly 

Called the "Warm Heart of Africa," in the native language, Malawi locals exude friendliness.

It's common for strangers to wave and greet visitors as if they know them.

And it's easy to make them smile with a "moni" (pronounced mo-nee, not money), which means hello in Chichewa, the local language, and "Zikomo" (thank you).

Curious kids often come by to say hi and see what you're up to.

The refrain I heard repeatedly was, "Welcome. You are welcome."

Although overt friendliness often arouses suspicion in the world traveler, especially when someone's trying to sell you tchotckes, there's hardly any hawking or selling of tacky souvenirs in Malawi -- the people are genuinely friendly. Founded in 1964, Malawi has never experienced a civil war.

(Smiles and waves are commonplace.) Image Source: cnn.com

2. It's not crowded 

You can enjoy the pristine views of massive Lake Malawi -- known locally as Lake Nyasa, it's the ninth largest lake in the world -- without having your perfect day wrecked by a bunch of vacationers blasting horrible music.

Instead, you'll hear restaurants jamming 1990s pop music such as the Backstreet Boys -- can't win them all.

Another perk: you won't have to jostle for reservations at hotels, restaurants or game parks.
Most of the travelers you'll likely encounter in Malawi are tobacco businessmen or NGO workers -- nary a tourist in sight. Even the capital of Lilongwe has the relaxed vibe of a garden.

There are few cars and you can walk to places without feeling overwhelmed or fearful of getting run over. (The country's commercial capital of Blantyre is much busier.)

You can go from the high life of the Kumbali Country Lodge, where Madonna stays, or sleep in more budget accommodations.

3. Lake Malawi is spectacular 

Although Malawi is landlocked, its giant, freshwater lake is its life blood.

The sunny beaches of Lake Malawi are golden and the waters are nearly empty except for a few boats.

Lake Malawi is a UNESCO World Heritage Site. It's home to the largest number of fish species of any lake in the world, thought to be between 500 and 1,000, according to UNESCO.

It's perfect for freshwater snorkeling and diving in clear water.

The lake draws in a variety of bird species, as well as hippos, warthogs, baboons and occasional elephants. Not bad company to enjoy the water with (maybe not the hippos).

4. Rehabilitated game parks and natural reserves 

Tour companies offer safaris in parks and reserves that include eco-friendly trips, mountain biking, horseback riding and traditional housing stays.

One of the best known parks is Majete Wildlife Reserve, which became a target for poaching that continued into the 1990s. By the 2000s, thanks to a partnership between the government and a non-profit organization, the park was repopulated and rehabilitated.

The Big Five (elephant, rhino, lion, leopard, buffalo) can be viewed here.

"Malawi is not a wildlife destination, it's not Masai Mara, but that's changing," says Rob McConaghy of Ulendo, a travel group operating in Malawi. "Majete National Park is run as a private park and has reintroduced so much game, you can see the Big Five now."

(Makokola Retreat Hotel.) Image Source: cnn.com

5. Easygoing vibe 

Malawi is, in large part, a place of peace and quiet, without the traffic jams and hassles of city life.
The country is largely rural; only 15.7% of the population live in urban areas.

Clear skies and bright stars make it thrilling for star gazers.

The trend is toward self-drive holidays -- visitors rent cars and drive themselves through the country.
"As a country, people perceive Malawi being safe, stable and peaceful," says McConaghy. "It gives an impression of a nice, warm friendly country to travel in."


Dr. Paul Frymoyer has been to Malawi to practice medicine and to explore its tourist attractions. Check out this blog for more African travel adventure stories.