Thursday, April 26, 2007

Alpha-1 Video

This showed up on my Google feed today. Cool! The author of the video says this about the video:

"stylized (and not too biologically correct) representation of the genetic disease alpha 1 antitrypsin deficiency"

Click twice on the movie to play it.

Tuesday, April 24, 2007

Liver Heal Thy Self


March 29, 2007 (Scientific American)

Gene Activates Liver Repair

Hunting for a way to let the liver heal itself without causing more harm than good
By JR Minkel

Researchers may have identified a master switch that activates the liver's ability to heal itself, suggesting a route to better treatments for liver diseases such as hepatitis and cirrhosis. Mice that lacked the gene showed a marked deterioration in their livers and lived shorter lives than normal mice.

Damage to the liver activates a group of specialized wound-healers called hepatic stellate cells (HSCs), which churn out scaffoldlike collagen fibers that support the growth of new liver cells. "You want the cells to get activated but you don't want them to stay activated for too long," says neurobiologist Katerina Akassoglou of the University of California, San Diego, because the fibers begin substituting for healthy liver tissue, leading to liver failure in people with chronic cirrhosis, for example. But researchers do not know which genes control the process.

Akassoglou and her colleagues thought they had a good candidate in the gene for the p75 neurotrophin receptor (p75NTR), a regulator of cell death in the brain that also switches on soon after liver injuries. Using mice that had a propensity for liver disease, her team created a strain of rodents that lacked the p75NTR gene. The livers of the engineered mice were covered in lesions after 10 weeks, and only half of the animals lived longer than that, compared with more than six months for the unmodified rodents.

The p75NTR protein sits on the surface of HSCs. The group believes that when activated by a still-unknown agent after liver damage, it stimulates a cascade of signals inside the cells that trigger them to begin the healing process, according to results presented in this week's Science. The next step, Akassoglou says, is to determine the role p75NTR plays in later stages of liver disease, to see if shutting it down will stop the harmful production of collagen.

"If you know what the switch is," she says, "and if you know how these cells become quiescent again … then you can start interfering with this process."

Friday, April 20, 2007

Another Birthday Girl

Today is my step-daughter, Kesa's, birthday. Happy 15th Kesa! I'm having a hard time believing it was so long ago that she came into my life. Time certainly does seem to speed up when you are observing a child grow up.

In a fitting tribute, I thought it worthwhile to share one of my more vivid memories of Kesa as a baby.

Kesa was crawling age. I think about 9 months old, but my memory is fading. At that time, her blond curls sprung up off her head and her cherubic cheeks glowed with a pink hue. I remember being shocked by how much she looked like Charlie.

As her chubby thighs and knees pushed against the brown carpet, she giggled and shrieked with joy as she approached me sitting on a sofa. I couldn't help but smile at her excitement. Charlie egged her on with "Come to Dada! Come to Dada!" Kesa squealed with delight and swiftly crawled about 6 feet toward us.

Charlie scooped her up, and that was when I first really witnessed the father-daughter bond between them. He kissed her cheek a bunch of times, and then put her down on the floor again. Kesa giggled again, and promptly crawled off toward her Papa. I knew Charlie was proud, but he exuded pride and parental love that day. I hope my memory of that day pays tribute to Charlie and Kesa's relationship.

Has it really been 15 years?

As Kesa prepares to learn how to drive, becomes more interested in boys, and works her way through high school, I see Charlie's bond continuing to deepen. He aches to talk to her on the phone or get an email from his busy teenager these days. (Kesa lives 4 hours away from us.)

I guess it makes me appreciate what we have with Grace and Meghan even more. They, too, will grow up too fast, and I had better appreciate them as little girls while I can.

Happy Birthday Kesa!

Thursday, April 19, 2007

Magnesium Sulfate Protects Preemies?

I received mag with both Grace and Meghan while I was still pregnant. Hmmmm...

Magnesium sulfate may protect very preterm infants from brain injury

Reuters Health - Apr. 17, 2007

NEW YORK (Reuters Health) - Magnesium sulfate given before very preterm birth may protect infants against brain injury without harming the mother, according to a report in the March issue of BJOG: An International Journal of Obstetrics and Gynecology. However, the benefit is not strong enough to recommend widespread adoption of the strategy.

Several reports have suggested that prenatal administration of magnesium sulfate for tocolysis or preeclampsia is associated with lower neonatal mortality and lower risk of cerebral palsy in very-low-birth-weight children, the authors explain.

Dr. Stephane Marret from Rouen University Hospital, France and associates investigated whether a single infusion of magnesium sulfate to women at risk of very preterm delivery would prevent neonatal mortality and/or white matter injury.

Slightly more women treated with magnesium sulfate (53.9%) had prolonged prelabor rupture of membranes (PPROM) than women who received placebo (46.6%), the authors report, but otherwise the groups had similar maternal and pregnancy characteristics.

There were no major maternal adverse effects among women treated with magnesium sulfate, the results indicate, and labor and delivery outcomes were similar for the two groups. Women in the magnesium sulfate group did, however, have a significantly higher rate of maternal-fetal infections.

Total neonatal mortality before hospital discharge, severe white matter injury, and the combination of the two were lower for the magnesium sulfate group, the researchers note, but the differences did not reach statistical significance.

Secondary cranial ultrasound outcomes also did not differ significantly among the 665 infants with available data, the report indicates, although the rate of all white matter injury and the rate of nonparenchymal hemorrhages were lower in the magnesium sulfate group than in the placebo group.

"The lack of a significant magnesium sulfate effect ... may be explained by the higher frequencies of PPROM and/or maternal-fetal infection observed in our magnesium sulfate group that may have counterbalanced the neuroprotective effect of magnesium," the investigators say.

"Our findings suggest a neuroprotective effect of magnesium sulfate given before very-preterm birth but do not provide strong enough evidence for recommending widespread magnesium sulfate use in clinical practice," Dr. Marret and colleagues conclude.

BJOG 2007;114:310-318.

Monday, April 16, 2007

The Birthday Girl

Five years ago today, a tiny, fussy wrinkled baby girl came abruptly out of my stomach. She had been delivered by c-section by Dr. Schultz because I had severe preeclampsia. I remember her cries that were as if to say, "Put me back in there! I'm not ready to be born yet." My thoughts were very similar, but I was so very sick and relieved that my baby was alive and getting the important care she needed in our experienced NICU.

That day, I became a mother...a mom who felt an amazing amount of love. A love that I had never felt before. A love that I can't describe appropriately in words. It is a love to be experienced not written about. I'm quite certain the mothers who read this will agree.

That day, a force to be reckoned with was born. Her name is Grace Ann. My beautiful girl. Our gorgeous daughter. An extension of both myself and my husband.

Today, we celebrate Gracie.

We celebrate Grace's endless spinning, jumping, laughing, running, teasing, whining, giggling, silly self.

We celebrate her inner beauty. Her need to declare her love at random times. Her intense need to stroke her ears and anything remotely soft or silky. Her moments of shrieking as Meghan calls her stinker pooper head. Her neverending movement as we sit as a family at the dinner table. Her intense dread at the prospect of getting cold or chilly. Her need for at least 12-13 hours of sleep per day. Her grouchy self in the morning. Her ramming speed approach to all things. Her hugs which allow you to feel the depths of her soul.

We celebrate all of Grace. We celebrate her past, present, and future.

Plus, we celebrate all of these beautiful 5 year old faces, which continue to deepen our love for her.

Happy Birthday Gracie. We love you forever.

Friday, April 06, 2007

Boston Marathon

On Grace's birthday, we are honored that a member of the American Liver Foundation's Run for Research Team in the Boston Marathon will be running in honor of Grace & Meghan. The girls were matched with our runner, Jen. This is her 4th year running. WOW! I can't even run 4 blocks.

Please consider donating to Jen's fundraising effort:

We're proud that Jen runs to help cure liver disease and Alpha-1 is one of those diseases.

Jen, Gracie and Meghan are very proud of you.

Wednesday, April 04, 2007

ELBW Research

That is extremely low birth weight (ELBW) for those of you who haven't had micropreemies. Meghan qualified for this birth weight and as such qualifies for a myriad of additional risk factors for which Gracie would not be at risk.

I'm still reading this blog post, and need time to absorb and reflect before I showcase my opinion here.

Needless to say, Meghan, while still very much alive and with us, may have life challenges because of her very early birth.