cinder1's Journals
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Lakeport Fires June 28, 2008
Saturday,Jun 28 2008, 06:25:30 PM (Last updated: Sunday,Jun 29 2008, 04:26:45 PM)
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LAKE COUNTY Road crews in Lake County are hard at work, despite a workplace advisory issued Friday by the California Division of Occupational Safety and Health (Cal/OSHA) for all of Northern California because of smoke in the air from wildfires. More than 800 fires in California. I have not seen the sun shine in 8 long days. Here in Northern California one can not see the largest and oldest natural lake in North America "Clear Lake". A New Day Has Come, and as I watch the sun come up across the lake, my eyes are not burning, and I thank God for such a new and wonderful day. Beauty is all around us, sometimes I believe we just forget to open our eyes and see...... |
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Alpha-1 Antitrypsin Deficiency, also known as Alpha-1, is an inherited disorder that causes significant reduction in the naturally occurring protein alpha1 antitrypsin (AAT).
Scientists also call this protein Alpha-1 Proteinase Inhibitor (A 1 Pi) because it inhibits not only trypsin but also other enzymes called proteinases. It is believed that Alpha-1 affects as many as 100,000 people in the United States and similar numbers in Europe. Alpha-1 is most common among Caucasians of Northern European and Iberian descent. It is the most common cause of genetic liver disease in children and genetic emphysema in adults. Inheritance Since Alpha-1 is inherited, blood relatives of anyone with AAT deficiency have an increased chance of having Alpha-1.
Every person inherits two AAT genes, one from each parent, and the two parental AAT genes are codominantly expressed. A person has a much higher risk of developing emphysema if he or she inherits two abnormal genes. People with one abnormal gene and one normal gene are called carriers. They have some risk of developing emphysema and they can pass the abnormal gene on to their children. In families in which one parent has a low level of AAT (two abnormal Z genes) and the other parent has a normal value (two normal M genes), all children have intermediate AAT concentrations (one normal M gene and one abnormal Z gene). These people are called carriers. When both parents have intermediate AAT concentrations (one normal M gene and one abnormal Z gene), the children may have low (ZZ), intermediate (MZ) or normal (MM) values. Brothers and sisters of a patient have mathematically a 1 in 4 chance of inheriting two Z genes (ZZ) and also having Alpha-1. Siblings of an Alpha-1 patient should be tested. Diagnosis
Alpha-1 can be diagnosed with blood tests, which measure the amount of AAT present in the blood. People with Alpha-1 typically have only 10 to 15 percent of the normal amount of AAT in their blood, so a very low result would suggest Alpha-1.
Alpha-1 can be confirmed by a specialized blood test called phenotyping. Phenotyping will detect the variant AAT protein. Phenotyping also is available to detect the carriers of Alpha-1. Therefore, it is useful for testing blood relatives of persons with Alpha-1. Phenotyping results are expressed in letters such as M, S, Z or other letters of the alphabet, which designate the specific genes one has inherited. The most common genetic phenotype among people who have Alpha-1 is PiZZ. Cindy ZZ
California
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Historic Day on Capitol Hill
Tuesday,May 20 2008, 11:12:28 PM (Last updated: Tuesday,Jun 10 2008, 10:07:12 AM)
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May 21, 2008
To all those who love me, as I love them.......who have touched my heart in so many ways, and are helping me to grow in to the woman I am suppose to be. Thank you, for with out you, there would be no me......
For me today, it was a historic day on Capitol Hill. Gina a bill we have been fighting for years was signed in to law. What this means for me, a person with a genetic defect, is that my children will one day be able to get and afford health insurance. They will not be discriminated against because they were genetically pre deposed to any condition, this also mean you too, no matter what the pre disposition is......
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I was born and raised in the land of the midnight sun, where the Caribou and the Salmon run. Alaska will always be the owner of my heart. California the owner of my lungs. I now live in Northern California, on one of the oldest and largest natural lakes in North America. So I guess my horizons have been small. I am a single mother of a 13 year old. I also have two adult children. I am a college student at Mendocino College. My life in limbo for the moment. You just don't know when your world will change in a mere moment. Alpha-1 has drastically changed my life forever. In some ways debilitating and in others ways so enlightened and enriched. So live, love and laugh, and dance to your own drummer. |
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