Family knows blood is precious; Immune disorder killed a daughter, but son is alive because of transfusions, bone marrow transplant

April 30, 2007

Family knows blood is precious; Immune disorder killed a daughter, but son is alive because of transfusions, bone marrow transplant

KARENA WALTER / Standard Staff
Local News – Monday, April 30, 2007 @ 12:00

The photograph album for baby Ethan Peters is filled with tubes and nurses and hospital rooms.

Not a typical newborn’s book, but Lori Peters smiles as she looks through it anyway.

Those photos from Toronto’s Hospital for Sick Children seem to be more about Ethan receiving life than being sick.

Now two years old, he was with his family celebrating his birthday at the local Canadian Blood Services clinic Saturday.

By the time he was six months old, Ethan had a bone marrow transplant, seven platelet transfusions and three blood transfusions.

“He couldn’t have lived without it, just like Brooklyn,” Peters said.

Born with severe combined immunodeficiency, Ethan didn’t have T-cells necessary for an immune system. The sister he never knew, Brooklyn, was born with the same rare genetic condition. Brooklyn died in 2002 at age five months, before her condition was diagnosed.

Ethan’s two other sisters Madison, 8, and Sheridan, 3, do not have the condition.

The Peters family, living in Virgil, were hosting their second annual blood donor clinic to honour Brooklyn and Ethan and raise awareness about the importance of donations.

“It’s something you never think about,” Peters said. After spending Ethan’s first 235 days in the hospital, she and husband Jason learned a lot about blood services and both donate now.

Jason Peters said one donation of blood helps three people. “If we can get 30 people here today, 90 will benefit.”

He said he hopes that once more people come out to give blood, they’ll think about taking the extra step of going on the bone marrow registry.

It took four months to find bone marrow for Ethan because no one in his family was a match. The worldwide registry found a 25-year-old woman in Germany, whom the Peters hope to meet some day.

Other than the trips to the Toronto hospital every couple of months, Ethan is living a pretty normal life, his dad said. “He’s the same little troublemaker his sisters were at his age.”

Clinic recruitment co-ordinator Tammy Maroudas said more than 50 per cent of Canadians will require blood for themselves or a family member over their lives. Clinics like the one the Peters were hosting help spread the word.

“I know there are a lot of us who’ve seen the commercials,” she said. “There’s a lot of good intentions, but we want to see those good intentions turn to action.”

That’s just what Catherine Stirling of St. Catharines did after hearing about the honour clinic on the radio and being touched by the family’s story. She said she hadn’t given blood for a while and thought it was a good time to start again. With two young daughters of her own, Saturday’s clinic hit home.

“They’re my life,” she said. “And if anything happened to them, I would want someone to help.” kwalter@stcatharinesstandard.ca

Dropping in to help

Hundreds of Canadians need bone marrow transplants each year.

75 per cent of people requiring bone marrow transplants need to find a donor match outside their family.

You must be at least 17 years old to give blood or be on the bone marrow registry.

It takes about an hour to donate blood and all types are needed.

The clinic at 395 Ontario St. (Henley Square) is open five days a week: Monday 3:30 to 8 p.m.; Tuesday and Wednesday 9 a.m. to 1 p.m. and 2:30 to 8 p.m., Thursday 8 a.m. to noon and Saturday 9 a.m. to 1 p.m.

More information at www.blood.ca or call 1-888-2-DONATE.

linkback url: http://www.stcatharinesstandard.ca/webapp/sitepages/content.asp?contentID=508189&catname=Local+News


Toddler marks birthday at blood clinic

April 29, 2007

Toddler marks birthday at blood clinic

By KARENA WALTER, Standard Staff

Sunday, April 29, 2007 – 01:00

Local News – The photograph album for baby Ethan Peters is filled with tubes and nurses and hospital rooms.

Not a typical newborn’s book, but Lori Peters smiles as she looks through it anyway.

Those photos from Toronto’s Hospital for Sick Children seem to be more about Ethan receiving life than being sick.

Now two years old, he was with his family celebrating his birthday at the local Canadian Blood Services clinic Saturday.

By the time he was six months old, Ethan had a bone marrow transplant, seven platelet transfusions and three blood transfusions.

“He couldn’t have lived without it, just like Brooklyn,” Peters said.

Born with severe combined immunodeficiency, Ethan didn’t have T-cells necessary for an immune system. The sister he never knew, Brooklyn, was born with the same rare genetic condition.

Brooklyn died in 2002 at age five months before her condition was diagnosed.

Ethan’s two other sisters Madison, 8 and Sheridan, 3, do not have the condition.

The Peters family, living in Virgil, were hosting their second annual blood donor clinic to honour Brooklyn and Ethan and raise awareness about the importance of donations.

“It’s something you never think about,” Peters said. After spending Ethan’s first 235 days in the hospital, she and husband Jason learned a ton about blood services and both donate now.

Jason Peters said one donation of blood helps three people. “If we can get 30 people here today, 90 will benefit.”

He said he hopes that once more people come out to give blood, they’ll think about taking the extra step of going on the bone marrow registry.

It took four months to find bone marrow for Ethan because no one in his family was a match. The worldwide registry found a 25-year-old woman in Germany, whom the Peters hope to meet some day.

Other than the trips to the Toronto hospital every couple of months, Ethan is living a pretty normal life, his father said. “He’s the same little troublemaker his sisters were at his age.”

Clinic recruitment co-ordinator Tammy Maroudas said more than 50 per cent of Canadians will require blood for themselves or a family member over their lives. Clinics like the one the Peters were hosting help get the word out.

“I know there are a lot of us who’ve seen the commercials,” she said. “There’s a lot of good intentions, but we want to see those good intentions turn to action.”

That’s just what Catherine Stirling of St. Catharines did after hearing about the honour clinic on the radio and being touched by the family’s story.

She said she hadn’t given blood for a while and thought it was a good time to start again. With two young daughters of her own, Saturday’s clinic hit home.

“They’re my life,” she said. “And if anything happened to them, I would want someone to help.”

Dropping in to help:

• Hundreds of Canadians need bone marrow transplants each year

•75 per cent of people requiring bone marrow transplants need to find a donor match outside their family

• You must be at least 17 years old to give blood or be on the bone marrow registry

• It takes about an hour to donate blood and all types are needed

• The clinic at 395 Ontario St. (Henley Square) is open five days a week: Monday 3:30 p.m. to 8 p.m.; Tuesday and Wednesday 9 a.m. to 1 p.m. and 2:30 pm. to 8 p.m., Thursday 8 a.m. to 12 p.m. and Saturday 9 a.m. to 1 p.m.

• More information at http://www.blood.ca or call 1-888-2-DONATE.

— Canadian Blood Services

linkback url: http://www.stcatharinesstandard.ca/webapp/sitepages/content.asp?contentid=507067&catname=Local+News&classif=News+Live


T–B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3{zeta} subunit of the T-cell antigen receptor complex

April 27, 2007

CLINICAL TRIALS AND OBSERVATIONS  From Blood

TB+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3{zeta} subunit of the T-cell antigen receptor complex

Joseph L. Roberts1, Jens Peter H. Lauritsen2, Myriah Cooney1, Roberta E. Parrott1, Elisa O. Sajaroff1, Chan M. Win3, Michael D. Keller1, Jeffery H. Carpenter1, Juan Carabana3, Michael S. Krangel3, Marcella Sarzotti3, Xiao-Ping Zhong1,3, David L. Wiest2, and Rebecca H. Buckley1,3 1 Department of Pediatrics and Immunology, Duke University Medical Center, Durham, NC; 2 Fox Chase Cancer Center, Division of Basic Sciences, Immunobiology Working Group, Philadelphia, PA; 3 Department of Immunology, Duke University Medical Center, Durham, NC

CD3{zeta} is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in TCR-mediated signal transduction. We report here a patient with TB+NK+ severe combined immunodeficiency (SCID) who was homozygous for a single C insertion following nucleotide 411 in exon 7 of the CD3{zeta} gene. The few T cells present contained no detectable CD3{zeta} protein, expressed low levels of cell surface CD3{varepsilon}, and were nonfunctional. CD4+CD8CD3{varepsilon}low, CD4CD8+CD3{varepsilon}low, and CD4CD8CD3{varepsilon}low cells were detected in the periphery, and the patient also exhibited an unusual population of CD56CD16+ NK cells with diminished cytolytic activity. Additional studies demonstrated that retrovirally transduced patient mutant CD3{zeta} cDNA failed to rescue assembly of nascent complete TCR complexes or surface TCR expression in CD3{zeta}-deficient MA5.8 murine T-cell hybridoma cells. Nascent transduced mutant CD3{zeta} protein was also not detected in metabolically labeled MA5.8 cells, suggesting that it was unstable and rapidly degraded. Taken together, these findings provide the first demonstration that complete CD3{zeta} deficiency in humans can cause SCID by preventing normal TCR assembly and surface expression.

linkback url: http://bloodjournal.hematologylibrary.org/cgi/content/short/109/8/3198


Doctor promotes blood tests for babies

April 26, 2007

Doctor promotes blood tests for babies
State Health Department screens for 45 diseases with a few drops at birth

By CATHLEEN F. CROWLEY, Staff writer
Click byline for more stories by writer.
First published: Thursday, April 26, 2007

ALBANY — A drop of blood can change the course of a newborn baby’s life.

Five dabs of blood drawn from a newborn’s heel allow the state Health Department to test babies for 45 different diseases. Babies are screened for HIV, sickle-cell disease, cystic fibrosis and the most recent addition to the battery, Krabbe disease.

Early identification is crucial, said Dr. Michele Caggana, director of the state’s newborn screening program. Without the blood test, many of the diseases are difficult to diagnose and can cause irreparable harm. Early detection can avert life-changing handicaps and even death, she said.

Tonight, Caggana will talk about the screening program as part of a lecture series sponsored by the Wadsworth Center, the state’s public health research laboratory. The series, called “Science at Your Service,” highlights the science performed at the state lab.

The state lab tested blood samples from 252,000 newborns in 2006, and 18,600 of the tests showed signs of a disease, according to statistics from the health department.

Every morning at Wadsworth’s Biggs Laboratory, state workers sift through Federal Express shipments from hospitals around the state. The mailbag delivers 500 to 2,500 blood samples from babies born over the previous few days.

Caggana predicted the samples will spike in November, nine months after the Valentine’s Day blizzard.

By 11 a.m., all the specimens are logged into the computer system and given a number. The index-size cards each have five drops of blood, called Guthrie spots, that spread into half-inch circles. From each card, a technician takes nine hole punches, a little smaller than the standard office tool. The “punches” are placed in trays and sent for testing overnight.

Diseases like congenital adrenal hyperplasia and galactosemia, both enzyme disorders, are urgent. Untreated, a baby can die within weeks. If a test returns with a positive result for one of those high-level diseases, the health department calls the baby’s pediatrician immediately, Caggana said.

The call can oftentimes be made 24 to 48 hours after the baby’s birth, she said.

“There’s staff that is dedicated every step of the way. They really, really work hard to make sure everything is correct,” Caggana said.

Newborn screening in New York began in 1965. At first, only phenylketonuria, a disease that causes brain damage, was tested. The program expanded to eight diseases in the late 1960s and did not change for two decades until new technology allowed the lab to perform more tests on a single hole punch.

In 2002, the health department added more than 20 diseases to its panel of tests, and the number eventually grew to 45.

Testing is regulated by state public health law. Health officials ask several questions before adding a disease to the screening program: Is the disease difficult to identify at birth? Is there a reliable test for the disease? Is it treatable? And is there a system in place to treat babies who have it?

“The whole premise behind newborn screening is that you pick up something that is not obvious at birth so you can find it and treat it before the baby suffers bad effects from the disease,” Caggana said.

The department is considering testing for several more diseases, including severe combined immunodeficiency disease (SCID), better known as bubble boy disease. Wisconsin is running a pilot program for SCID, which can be treated with a relatively simple bone marrow transplant if diagnosed within the first months of a child’s life.

“To me, it sounds like a good candidate,” Caggana said.

Cathleen F. Crowley can be reached at 518-454-5348 or by e-mail at ccrowley @timesunion.com.

linkback url: http://timesunion.com/AspStories/story.asp?storyID=584162&category=FRONTPG&BCCode=HOME&newsdate=4/26/2007&TextPage=1


Parents hope for perfect donor match

April 14, 2007

Parents hope for perfect donor match
Gary Yokoyama, the Hamilton Spectator

Little Evan Glen (above with his mother, Donna, looking for an educational program to play) suffers from severe combined immune deficiency, also known as boy in the bubble disease. They’re hoping to find a matching bone marrow donor.

Evan Glen
Evan Glen, now 2 1/2, was on life support before doctors took his frantic parents seriously. At eight months old, he started throwing up. He stopped eating, drinking and playing. They rushed him to hospital. The diagnosis was worse than anything his parents could imagine.
By Joanna Frketich
The Hamilton Spectator(Apr 14, 2007)

It started with a cough that never went away. Evan’s parents were told it was a cold he was having difficulty shaking.

When Evan was eight months old, he started throwing up. Again they were told not to worry. It’s just a virus.

A few weeks later, he stopped eating, drinking and playing.

“He’d just lie around like a lump,” said his mom Donna Glen. “Jim and I were panicking. We were terrified.”

Desperate for help, they demanded to see a pediatrician, who sent Evan for tests.

He was on life support by the time the results came back.

When his parents rushed him to McMaster Children’s Hospital on July 4, 2005, he was nearly lifeless.

“If only someone had listened to me,” said Glen.

The diagnosis was worse than anything Glen or her husband could have imagined. Evan can’t defend himself from infection by viruses, bacteria and fungi because of a defect in the white blood cells that would normally protect him. It’s called severe combined immunodeficiency (SCID).

“It’s a very dangerous and very ominous condition,” said Dr. Chaim Roifman, who specializes in the disease at Sick Children’s Hospital in Toronto. “They’re born with no ability to fight even a minor infection.”

First there was relief that finally Evan would get help.

“Mostly it made me more angry,” said Glen. “I wanted to yell and scream.”

Against all odds, Evan came off life support a month later.

“He sat up, grabbed the soother, took a bottle of formula and drank it down,” said his mom. “I actually thought, ‘Is this real?'”

He moved into a hospital room while waiting for a bone-marrow transplant to give him a new immune system. He was so vulnerable to infection, he wasn’t allowed to touch the floor. There was a small mat beside his bed to play on. If any toys went off the mat, they had to be taken away to be cleaned.

He couldn’t wear normal clothes, only hospital gowns specially laundered. His room was off limits except to a small skeleton staff and his parents.

He spent both his first birthday and Christmas there. Hospital staff and volunteers provided the gifts because his father was struggling to support the family on his own, painting cars. Evan’s illness meant his mother couldn’t go back to her job driving a school bus when her maternity leave ended.

It took seven months to find Evan a bone marrow donor. It wasn’t a perfect match, but eight out of 10 would have to do.

“It’s not great,” said Roifman. “You use eight out of 10 when you have no choice.”

Evan was literally put in a plastic bubble to transport him directly to Sick Kids. He had chemotherapy to prepare for the transplant on March 30, 2006.

It went unusually well, and Evan left the hospital 55 days after the transplant, far ahead of schedule.

For the first time in 11 months, Evan was home.

“He just circled the house,” said Glen. “He was enthralled. We thought it was over.”

Evan and his big sister, Olivia, had a normal life to start living.

In July, Glen worked up the courage to take them to Gage Park. They went at 7 a.m. so they’d be the only ones there. Glen sprayed every piece of playground equipment with Lysol before taking Evan out of the stroller.

“He froze,” she said. “He just stood there. I told Olivia to show him how to play. He absolutely loved it. He loved the slide and the swings.”

At the end of the month, Glen added the library to their limited outings. She phoned first to find out when it wasn’t busy. Again, she got out the Lysol and sprayed the children’s area before letting him play. They’d wash their hands before leaving the library. When they got home, they immediately changed their clothes.

The crowning moment was Evan’s second birthday. He had a real party attended by about 30 friends and family at the YWCA on Ottawa Street.

“I was crying,” said his mom. “We actually had a normal life. I should have bitten my tongue.”

It came to a crashing end weeks later. Evan had diarrhea. He got better in four days, giving hope that his new immune system was working. But one week later he was sick again.

“It was our worst fear realized,” said his mom.

Evan has graft-versus-host disease. His donor’s immune cells are literally attacking his body. He was at high risk for it because his donor wasn’t a perfect match. An eight out of 10 match has a 50 per cent chance of success. A perfect match works 80 per cent of the time.

Best is bone marrow from a sibling, which has a nearly 100 per cent success rate. But, unfortunately, Olivia isn’t a match for Evan.

That leaves the toddler back at Square 1. He’s in Sick Kids waiting for another transplant from the same donor.

His parents aren’t allowed to know who it is or where he is.

“Thank you, thank God for you,” says Glen choking back tears. “Because of you, Evan had a chance. Because of you, Evan has a second chance.”

But his parents refuse to give up on that perfect match. They pray someone joins the registry today, tomorrow, soon — before it’s too late.

“Evan has beaten every odds given to him,” said his mom. “We are very hopeful.”

jfrketich@thespec.com

905-526-3349

How to donate

bone marrow

What it is: Bone marrow is the tissue in the soft centre of the bones that manufactures blood cells.

Red blood cells carry oxygen, white blood cells fight infection and platelets help stop bleeding.

How it works: Diseased bone marrow is

destroyed by

radiation or chemotherapy. It’s replaced by healthy marrow from a volunteer donor.

Who donates: Of the 200 Canadians needing a bone-marrow transplant each year, fewer than 30 per cent find a family match. Canadian Blood

Services has a registry of more than 230,000 willing Canadian donors. Worldwide, there are more than 50 registries listing more than eight million people.

How the bone marrow is collected: It’s an operation. The donor is under general anesthetic; the marrow is taken from the hip bones using a special syringe and needle. The donor is released the same day but will be stiff and sore for at least three days.

The body replaces the bone marrow cells within two to three weeks.

How to join the bone marrow

registry: Healthy adults aged 17 to 50 can contact Canadian Blood Services at 1-888-2 DONATE or bloodservices.ca.

— Canadian Blood Services

Other ways

to help Evan

z Evan needs a blood product called platelets weekly to help his blood clot. Hamilton Health Sciences is

often short of platelets. To donate platelets, contact Canadian Blood Services at 1-888-2-DONATE or bloodservices.ca.

z To offer financial or other assistance to the family e-mail tracy_smith122000@yahoo.com.

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The Boy in the Bubble

April 14, 2007

The Boy in the Bubble

Evan Glen will die if exposed to germs. He needs a bone marrow transplant to live. Odds of a perfect match: less than 8 million to one.
By JOANNA FRKETICH
The Hamilton Spectator(Apr 14, 2007)

Evan Glen has lived half of his life in a hospital room.

Most of the rest has been as a prisoner in his own home.

The toddler’s grandparents are even barred from his East Hamilton house. They have rarely touched their two-and-a-half-year-old grandson.

Evan has no friends, no play dates and none of the usual preschool outings to parks and libraries.

It’s too dangerous. His immune system doesn’t work. He was born with severe combined immunodeficiency (SCID) so even the most common bugs could kill him.

“This is why they call it the boy in the bubble disease,” said his mom, Donna Glen. “I don’t take any chances. It’s just too risky.”

Glen washes her hands at least 20 times a day. She goes through two cans of Lysol disinfectant spray and one canister of sanitizing wipes a week.

It’s a far cry from the hockey practices and birthday parties she pictured when she became a mom.

But there is hope for a normal life.

A bone marrow transplant could cure Evan.

It’s the only treatment for a disease so rare that Toronto’s Hospital for Sick Children has only seen 75 kids with SCID in nearly 25 years.

Evan inherited it from his mother who didn’t know she carried a defective X chromosome.

He’s had one transplant already. It wasn’t a good match and didn’t work. But the unidentified donor is the only person out of more than 8 million people on the registry who comes close to matching Evan.

Unless a new donor is found, doctors will have no choice but to try using the same one again this summer.

That only gives Evan a 50 per cent chance of survival.

“My husband Jim wants him to live a normal life,” said Glen. “My (wish) is if he could just live.”

jfrketich@thespec.com

905-526-3349

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VITAL Program Launched to Educate Healthcare Providers and Patients On Administration of Subcutaneous Immunoglobulin Therapy

April 13, 2007

VITAL Program Launched to Educate Healthcare Providers and Patients On Administration of Subcutaneous Immunoglobulin Therapy
April 13, 2007 – 1:54 PM

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KING OF PRUSSIA, Pa., April 11 /PRNewswire-FirstCall/ — CSL Behring, a worldwide leader in developing subcutaneous immunoglobulin therapies, announced today the launch of a new program to educate healthcare providers and primary immunodeficiency (PI) patients on the proper technique for administering subcutaneous immunoglobulin therapy. The program, named VITAL(TM), an acronym for Vivaglobin Integrated Training And Learning, is being introduced to support the at-home use of Vivaglobin(R) (Immune Globulin Subcutaneous, Human), the first and only U.S. Food and Drug Administration- approved subcutaneous immunoglobulin (Ig) for treatment of patients with primary immunodeficiency. Vivaglobin was approved by the FDA on January 9, 2006.

Until recently, PI patients needed to schedule appointments with a hospital, physician or homecare company to receive intravenous immunoglobulin treatment. With the approval of Vivaglobin, a subcutaneous form of immunoglobulin, PI patients can now self-administer the treatment at home, given the approval of their physician. This new convenient treatment option will require education to teach patients how to properly manage their own therapy.

Through VITAL, CSL Behring offers nurses and physicians various tools and programs to assist them in teaching patients how to self-administer Vivaglobin at home.

“One of CSL Behring’s most important goals is to extend professional support and know-how well beyond the point of bringing high quality therapies to patients,” said Robert Lefebvre, general manager and vice president of U.S. Commercial Operations at CSL Behring. “We continually seek ways to ensure that consumers who choose our products understand how best to use them. The VITAL program is an excellent example of that commitment.”

All patients who start on Vivaglobin receive a patient starter kit to help manage their therapy. The kit includes helpful tools, such as administration guides, product information and a treatment journal.

Specialty pharmacies contracted to dispense Vivaglobin will provide patient training, as well as the drug, infusion pump, needles, tubing and any other supplies needed for treatment. Generally, the average patient requires approximately 4 or 5 educational sessions with a nurse before beginning self- administration independently.

Healthcare providers interested in requesting the VITAL educational program or related materials can access them through the Web site at http://www.Vivaglobin.com.

About Vivaglobin

Vivaglobin is delivered directly under the skin via a small portable pump. In clinical trials, Vivaglobin was shown to be a safe and effective immunoglobulin replacement therapy for treating patients with PI. The trials also assessed patients for health-related quality of life through at-home self-administration and reported increases in general health with patients expressing a preference for SC administration over IV administration.

Vivaglobin is derived from human plasma. As with all plasma-derived products, the risk of transmission of infectious agents including viruses and – theoretically, the Creutzfeldt-Jakob disease (CJD) agent – cannot be eliminated completely.

The most frequent adverse event reported in clinical trials was injection- site reaction, consisting of mild or moderate swelling, redness and itching. No serious local site reactions were observed and reactions tended to decrease substantially after repeated use. Other adverse events included headache, gastrointestinal disorder, fever, nausea, sore throat and rash. Full prescribing information about Vivaglobin is available at http://www.Vivaglobin.com.

About CSL Behring

CSL Behring is a global leader in the plasma protein biotherapeutics industry. Passionate about improving the quality of patients’ lives, CSL Behring manufactures and markets a range of safe and effective plasma-derived and recombinant products and related services. The company’s therapies are used in the treatment of immune deficiency disorders, hemophilia, von Willebrand disease, other bleeding disorders and inherited emphysema. Other products are used for the prevention of hemolytic disease of the newborn, in cardiac surgery, organ transplantation and in the treatment of burns. The company also operates one of the world’s largest plasma collection networks, ZLB Plasma. CSL Behring is a subsidiary of CSL Limited, a biopharmaceutical company with headquarters in Melbourne, Australia. For more information, visit http://www.CSLBehring.com.

Source: CSL Behring

CONTACT: Sheila A. Burke, Director of Communications & Public Relation
Communications of CSL Behring, +1-610-878-4209, Sheila.Burke@cslbehring.com;
or John Ruane of Ruane Communications, +1-678-585-0176, jbruane@rcipr.com, for
CSL Behring

Web site: http://www.cslbehring.com/
http://www.vivaglobin.com/

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