NEW YORK (Reuters Health) - Boys with hemophilia have a lower aerobic capacity than their healthy peers, according to study findings published the Journal of Pediatrics. However, the overall muscle strength of these children is comparable to that seen in the normal population.
None of the participants experienced joint or muscle bleeds or other adverse events because of participation in the study and all of them were able to perform at maximal or near-maximal levels on exercise tests.
Compared with their healthy counterparts though, the peak oxygen capacity, heart rate, and work capacity were significantly lower among the boys with hemophilia.
However, total muscle strength was normal in the patients compared with the healthy controls, and almost no joint impairment or decrease in functional ability was found.
On this day we remember all the men and women who gave their lives in the service of our country. This nation that has expended more treasure and given more blood in the service of the rest of the world. This nation, as Ronald Reagan said, stands like a shining city at the top of a hill. Shining as a beacon to all who desire liberty. Because of the sacrifice of our servicemen and women, this nation has stood and still stands as the greatest nation on the face of the earth. 
On Wednesday President Bush signed the Genetic Information Nondiscrimination Act of 2008 into law. The president's critics and detractors are numerous and varied, but here is something where we can stand together on the same side and approve of this landmark legislation.
For parents of boys with hemophilia anti-hemophilic factor products are heaven-sent. Combined with a prophylactic regimen the results are amazing. Although bleeding activity and severity can vary widely we have found that with prophylaxis Jack has few, if any, breakthrough bleeds and the restriction on his activities (within reason) are next to nothing. And this is wonderful. I’m sure there are untold numbers of people who see this active, go-for-it boy who would be shocked to learn he has a genetic condition that in the not too distant past would have likely resulted in debilitating joint damage or, even worse, an increased risk of death.
A group of researchers at The University of Texas Health Science Center at Houston have developed a modified Factor VIII protein that will help treat inhibitor patients.With a shortage of the blood-clotting protein Factor VIII (FVIII), people with Hemophilia A typically receive injections of FVIII derived from plasma or produced synthetically to control potentially life-threatening episodes of bleeding. Unfortunately as many as 1 in 3 people with Hemophilia A produce inhibitor antibodies, which attack the externally-administered FVIII and negate its blood-clotting benefits.This is great news from just around the corner. Congratulations to Dr. Escobar and the rest of our HTC team. We are so very fortunate that Houston has one of the premier Medical Centers in the nation, if not the world. We are doubly blessed for Jack to be under the care of Dr. Keith Hoots and the whole Gulf States HTC staff (the finest in the nation, and yes we’re biased).
To combat this problem, scientists in the laboratory of Sudhir Paul, Ph.D., at The University of Texas Medical School at Houston, developed a chemically modified version of FVIII which during laboratory tests neutralized these inhibitor antibodies, thus paving the way for the correction of the blood-coagulating process. The modification is called electrophilic FVIII analog (E-FVIII).
“It’s a two-step process,’’ said Paul, the senior author. “The E-FVIII permanently inactivates the antibodies that inhibit blood clotting in 20 to 30 percent of patients receiving Factor VIII replacement therapy. Once the antibodies are cleared, additional FVIII can be injected.” The study involved blood donated by eight people with FVIII-resistant Hemophilia A.
Miguel Escobar, M.D., of the department of pediatrics and internal medicine at the UT Medical School at Houston and the Gulf States Hemophilia and Thrombophilia Center, led the clinical aspects of the work.(emphasis mine)
Project DOCC, a groundbreaking national program for pediatric physicians-in-training, has a simple goal:
To improve each patient's quality of life by teaching physicians-in training the effect of chronic illness on patients and their families.
Created in 1994 by three parents, Project DOCC's philosophy is that, by understanding how families deal with illness and or disabilities out side the hospital setting, pediatric physicians-in-training become better and more compassionate physicians.
Project DOCC's teacher - parents and guardians of children with special medical needs - provide physicians with a unique perspective on culturally effective, family-centered care.Project DOCC Houston is a non-profit organization that is a collaboration of Houston-area families of children with special health care needs, Baylor College of Medicine's Department of Pediatrics and Texas Children's Hospital. Project DOCC Houston is mandatory for first year pediatric physicians-in-training as one of the teaching modules of Pediatrics 101.
NovoSeven(R) RT has been manufactured to be room temperature stable (from 36 degrees F to 77 degrees F outside a refrigerator). The new formulation does not require refrigeration and can be moved in and out of the refrigerator. In addition, NovoSeven(R) RT has a higher concentration for lower infusion volumes and quick administration. The needed infusion amount is almost half of that needed with the original NovoSeven(R).
"I imagine myself in a lab coat," she said. "One of my wishes is to figure out the cure for hemophilia, which is a blood disorder."
In Vietnam, one of Trang's best friends had hemophilia. "But his family was so poor, they could not afford medication, and he suffered tremendously from that," she said. "This is what inspires me."
I hope it was a joyful and restful day for all the Mothers and Grandmothers today. These are the ladies in our lives that keep the rest of us from falling apart. Without them we'd be hungry, dirty, smelly and wrinkled.With two games left in the season, Jack's team is 8-3-1 and in second place.
Medical science is constantly progressing, stretching the current limits and breaking new ground about what is known about the human body, its genetic makeup and what causes diseases.“The research is already starting to change nosology, as the field of disease classification is known. Seemingly dissimilar diseases are being lumped together. What were thought to be single diseases are being split into separate ailments. Just as they once mapped the human genome, scientists are trying to map the "diseasome," the collection of all diseases and the genes associated with them.”
Hemophilia has always been the classic case study of genetic mutations and has benefited from advances in genetic knowledge.
“Some of the earliest work has until now been with inherited diseases caused by mutations in a single gene. Diseases have been subdivided by the type of mutation. Hemophilia was divided into hemophilia A and B, caused by mutations in different genes for different clotting factors. And what was once considered a mild form of hemophilia was later identified as a variant of a different clotting disorder, von Willebrand disease, caused by mutations in a different gene and requiring a different clotting factor as treatment.”
Catalyst Biosciences, Inc. announced it intends to file an Investigational New Drug application and commence human clinical studies in 2009 for its new factor VIIa variant. Catalyst says CB 813 is, “…an improved, second-generation variant of human coagulation factor VIIa…for the treatment of acute bleeding in hemophilia patients.”“CB 813 is designed to substantially enhance clot-generating activity at the site of bleeding and therefore achieve clinical efficacy with fewer and lower doses than current therapy. In established hemophilia models of acute bleeding, CB 813 has demonstrated a significant improvement in potency compared with the marketed recombinant factor VIIa product, NovoSeven(R) and a competing, second-generation product, NN1731.”
