Saturday, March 28, 2009
Available online 24 January 2009.
The sweat test remains the gold standard for the diagnosis of Cystic Fibrosis (CF) even despite the availability of molecular analysis of Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR). We investigated the relationship between CFTR mutation analysis and sweat chloride concentration in a cohort of subjects with borderline sweat test values, in order to identify misdiagnosis of CF.
Design and methods
In the period between March 2006 and February 2008 we performed 773 sweat tests in individuals referred for suspect CF. Ninety-one subjects had chloride values in the border-line range. Clinicians required CFTR gene complete scanning on 66 of them.
The mean value of sweat chloride in the DNA negative subjects was lower than in those with at least one CFTR mutation. Our data indicate that 39 mEq/l is the best sensitivity trade off for the sweat test with respect to genotype.
To optimise diagnostic accuracy of reference intervals, it may be useful to modify from 30 to 39 mEq/l the threshold for sweat chloride electrolytes.
Wednesday, March 25, 2009
Gene modifies severity of cystic fibrosis lung disease
Cystic fibrosis, the most common congenital disease, affects children's lungs, intestines and pancreas. While it is recognised that it is caused by a defect in a single gene, clogging the organs with thick mucus, an international team of scientists have identified a gene that modifies the severity of lung disease in people with cystic fibrosis. Their discovery can lead to new targets for treatment. The results of their study were recently published in the journal Nature.
Cystic fibrosis affects 70 000 people worldwide© ShutterstockThis study, according to the scientists, was key in strengthening cooperation amongst researchers and raising awareness about cystic fibrosis. 'This is a good example of researchers with different expertise coming together and using the knowledge gained from mapping the human genome to make discoveries that improve our understanding of cystic fibrosis,' said Dr Carl Langefield from Wake Forest University School of Medicine and co-author of the study.'It may also help in the identification of targets for drug development and the development of tools for the earlier diagnosis of individuals with cystic fibrosis who are susceptible to severe lung disease.'The group of scientists evaluated the genetic makeup of almost 3 000 cystic fibrosis patients. They discovered that small genetic differences in the IFRD1 (interferon-related developmental regulator 1) gene correlate with the severity of lung disease.The scientists also found that the protein encoded by IFRD1 is particularly abundant in neutrophils, a type of white blood cell, and it regulates their function. Neutrophils have been identified as triggering inflammatory damage in the airways of people suffering from cystic fibrosis.'Neutrophils appear to be particularly bad actors in cystic fibrosis,' explained Dr Christopher Karp from the Molecular Immunology at Cincinnati Children's Hospital Medical Center in the US, the senior investigator in this study. 'They are important to the immune system's response to bacterial infection. In cystic fibrosis, however, neutrophilic airway inflammation is dysregulated, eventually destroying the lung.'Past studies have shown that mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene trigger cystic fibrosis but questions remained over the molecular mechanisms that link these mutations to the generation of lung disease, the scientists said. According to them, the severity of cystic fibrosis lung disease can be controlled by the variations in other genes.The scientists assessed mice whose IFRD1 gene was removed and they confirmed its role in regulating inflammation and disease once it was removed. Bacteria are not quickly cleared away from the airway when the gene is missing.By checking the blood samples of healthy human volunteers, the team discovered that the same IFRD1 variations that altered the severity of cystic fibrosis lung disease also changed neutrophil function in the volunteers.They also found that IFRD1's regulation of neutrophil function depends on its interaction with the class of enzymes called histone deacetylases. The scientists said more information about this interaction is needed if it is to play a role in treating the disease.'It's possible that IFRD1 itself could become a target for treatment, but right now it's a signpost to pathways for further study,' Dr Karp explained. 'We want to find out what other genes and proteins IFRD1 interacts with, and how this is connected to inflammation in cystic fibrosis lung disease.'Cystic fibrosis affects 70 000 people worldwide and there is no known cure. Experts say the predicted median age of survival for a person with cystic fibrosis is 37 years, but with the introduction of new treatments this number can rise to 40 or even 50.Other institutions involved in the study were Biocenter, Division of Cell Biology at Innsbruck Medical University in Austria and the David Hide Asthma and Allergy Research Centre, Newport, Isle of Wight in the UK.
Friday, March 20, 2009
My FEV1 is 3% HIGHER than it has EVER been, thats right ever! Last time I did steroids it took me a while before I got fully up to speed and I have not been hitting gym as hard as normal. FEV1 of 108% and FEV25-75 was 90% my FVC was 124%--previous high 111, I have seen small airways higher but 90ish is my 'normal' and especially good given its March which is a tough time for me. Oh and I was also a bit under the weather with sore throat etc.
My doctor took a LONG time between when I heard him grab my chart from the door and when he came in, I found out he went back to look and see if I had ever had #'s this high. I have had 103% a few months earlier before I started feeling the inflammatory winter problems I get set in. I have had 105 once before at other clinic but the instrumentation is completely different and I am not sure they are comparable. I am not saying this to say 'ooh look at my #'s' I am showing the big difference because normally I would have done 2 weeks IV's and not gotten that high and not felt as good lung wise.
As the doctor said, "I think we are on to something here". Basically he said a small subset of cf population does seem to have a larger inflammatory, allergy, asthma, type problem than they do with infections. He siad sometimes we will need just ABX's, sometimes, just steroids, sometimes both and we will have to discover what my 'pattern' is, he said his patients like this can tell him what they are experiencing fairly accurately, like I did when I came in february with my same symptoms I always get in feb.
I will still be looking to improve my health and eliminate any triggers I can but I am very glad to know that I have an effective treatment. He said he would not expect any side effects long term for my health from usage 1-2x per year, if we had to extend the time or use it more frequently then we would more closely monitor for osteoporosis or diabetes.
I told him about my efforts to 'green up' my house via cleaners scents etc. He said given the fact I am allergic to everything airborne they test for, I have ABPA, take xolair with huge results etc that it makes alot sense. He said whether it is immune modulated response, sensitivity, or true allergies it is all going to do the same-relatively speaking, same thing and that unfortunately the symptoms often mimic typical cf symptoms and it can be hard to pick up the difference. Hallelujah someone believed me!
So I guess moral of the story is listen to your body, research, talk to others and ADVOCATE for yourself. Goodness knows this wasnt easy it took leaving my normal clinc, driving 70 miles to a new one, and months of testing and treatments to get it all figured out but I think we ARE on to what I need--now--finally!
Thursday, March 12, 2009
My FYI Plan:
Up my workout routine.
Have been getting there less than I want, the steroids made it hard for a while because I was so tired, getting back in to it but haven't always been getting 5 days. So far this week for instance I did mon/tue and walked at work 30 min yesterday. Today I missed again.
Loose around ~20 pounds, more a size/look/feel issue but that's probably about max I'd want
I got to 11 pounds down and then did steroids, now I am at only 6 pounds down but working this week to loose those lbs very quickly via eating unprocessed low sugar for a couple weeks.
Do more huffing throughout the day
Doing well on this!
Start doing a BS monitoring 2x month or so
Doing well on this as I just got done with steroids and trying to make sure I get things back in line. BS were a bit high for a while and so now doing unprocessed food with no sugar added and getting it and weight back down.
FLUSH MY PORT ON SCHEDULE
I am horrible about this....still not done
Find a more efficient & compliant way to wash/sanitize my nebs.
Pasta pat is working well with the boiling, just ran out of distilled last night so need to fill jugs back up, that is the hardest part is remembering to refill!
Determine a new peak flow range
Printed sheet still lying there with 3 numbers on it. In my defenese I wanted to wait until steroids were done.
Buy some breathe right masks for cleaning, dusting, etc
DONE and have been using masks for cleaning and mostly when going in basement.
Buy allergen bedding and pillows!
Start eliminating alot scented products from cleaning/beauty regimen.
Have went 100% green on cleaning, looking for a bleach substitute, looking for laundry alternative. Beauty regimen I am waiting on a magazine from someone who has deal to order via wholesale organic club--doing it for laundry soap too.
Adding another to my list....
Research air purifiers and see if I should get a couple
Tuesday, March 3, 2009
19Mar2009 FVC 124 (up 13% from best ever), FEV1 108 (up 8%, up 3% from highest ever), FEV25-75% 90%(up 2%, down 12% from best ever)
One word FAN FREAKING TASTIC--ok that's 3 words
Clinic Notes: definately inflammatory in nature! Despite having a slightly more productive cough the sputum seems easier to get up and is still light yellow in color. Who knows maybe this is what I always produce I just didn't used to get it up as effectively. It's almost all between 10-12 after xopenex, HTS, pulmozyme have time to do their work and the excercise has paid off. I have increased my HTS usage and also 'greened up' the house which I really have noticed a difference on. I also think the 2xprevacid has a positive effect as I dont think I realized I had acid reflux all the time until it got to the point it was a huge problem.
29Feb2009 FVC 111 FEV1 100 (down 3%) FEV25-75% 88 (down 14%)
Clinic Notes: feel inflammatory in nature start 2 weeks steroids 40mg taper. Still got streaking in day 2 steroids.
Treatment Notes: Added 40mg, 60mg, 60mg days 1-3 then did rx treatment--bad I know but need to document it and then tell them in a couple weeks. Streaking in day 2, none since. Peak flow went up from 450 range to 540 (10 higher than previous best). Today is day 1 of 10mg and peak flow sits at 520 post treatments.
Sputum was not moving full force until days 4-5 then 'broke loose' (this was my note with previous steroid treatments in the fall) then started clearing back up. I did start getting junky days around 30mg dose days (7-8) so perhaps some more movement from a lower area? TOBI ended 2 days ago, have been doing extra HTS and minimum 3 treatments a day, getting good clearance with lots light yellow mucous. Working hard at extra huffing and coughing, hopefully paying off, so far it feels pretty good no tightness or pleural pain has returned except on one of the 'junky' days 8-9.
Reminder: During revisit in March come up with steroid 'plan' if & when needed again that includes a rx for xanax and sleeping pill rx by primary. Have not been able to sleep without tylenol pm, not good.
15Dec2008 FEV1 103% FEV25-75 102%
Clinic Notes: summer steroids early winter cold w 3 weeks cipro)
21Feb2008: FVC 105.3 FEV1 99.3 FEV25-75% 89.1 BP 114/68 HR 59 Wt 152
Clinic Notes: was getting huge variability and felt something 'stuck'
25Jun2007: FVC 105 FEV1 97 FEV25-75% 824Dec2007: FVC 99 FEV1 91 FEV25-75% 77
from NoExcuses by NoExcuses
Ann Allergy Asthma Immunol. 2002 Dec;89(6):599-605.Links
Respir Med. 2007 Mar;101(3):684.
Anti-inflammatory effects of montelukast in mild cystic fibrosis.
Schmitt-Grohé S, Eickmeier O, Schubert R, Bez C, Zielen S.
Children's Hospital Medical Center, University of Bonn, Bonn, Germany. email@example.com
BACKGROUND: Immune-mediated inflammation contributes to progressive pulmonary damage in cystic fibrosis (CF). Sputum cysteinyl leukotriene levels, eosinophil cationic protein (ECP), and interleukin-8 (IL-8) are significantly related to disease severity.
OBJECTIVE: The aim of this study was to evaluate the anti-inflammatory and clinical effects of the cysteinyl leukotriene receptor antagonist montelukast in children with CF.
METHODS: A double-blind, randomized, crossover design was used. Patients received montelukast (6 to < or =" 14"> 14 years, 10 mg) or placebo as a once-daily tablet for 21 days and then, after a washout period of at least 4 weeks, crossed over to receive the alternative treatment. Blood and native nasal fluid were taken on days 1 and 21 of each treatment block, and WBC count, ECP, and IL-8 were analyzed using a chemiluminescent immunometric assay.
RESULTS: Sixteen CF patients (10 boys, 6 girls; age, 5 to 18 years, median 9.5 years) completed the trial. There was a significant (P < or =" 0.02)" or =" 0.027;">
CONCLUSIONS: Montelukast (ie SINGULAIR) reduces eosinophilic inflammation in CF patients. Multicenter trials providing more patients to create more data to prove the hypothesis that montelukast is an effective tool to cut down disease severity in CF patients are needed.
Monday, March 2, 2009
So since I had to do the floors I figured I'd try out the 50% vinegar mop this time, delivered via a spray bottle that I used to use with the laminate floor cleaner. I have all hardwood and ceramic tile except the kitchen which is the snap together wood and the small bathroom which is laminate. The floors were pretty dirty between their pre-existing state and then adding in coffee grounds etc well lets just say it was a very thorough trial.
I did wear my breathe healthy mask, the thicker one with smaller microns while sweeping and mopping.
Let's start with biggest positive first, I never realized that I made so many efforts to keep Lillian and her things away from the cleaners! When she was little I was hyper paranoid about it and that is when I started looking into other options but didnt follow through so I used to 'rewash' with just water and a towel wherever she was crawling. Luckily crawling didnt last long. Well I realized that I never really spray too heavily around the eating area or her toys or her room and today I went to TOWN!
Jared and Lillian got home part way through my down stairs mop, normally I try to do it when she is not around ---again that wasnt really a though thing any more though it was when she arrived. She got home and wanted to help of course. Normally I would have made her sit on the couch or go upstairs where I wasnt mopping but I was able to let her run around--even without her shoes on without fear which was really a huge bonus.
The other nice thing was that since I was just using the vinegar I was able to multi-task better. I used something that left the floors with a bit of a shine ie waxy residue and so I took care not to spray the trim etc since it then collected dust better, this time I didnt worry about it and then I was able to take a towel and run it along the dust prone areas of the trim so a big 2 in 1! and I saved on the swiffer duster that I normally would have used ($$$$) plus the vinegar cleaned some dirty spots off the trim as I was going that the swiffer of course wouldnt have. Normally I end up letting that build up until I do all the trim at once---what a chore!
I thought Jared would complain about the smell when he got home but he didnt, whether he didnt mind or is trying to be supportive I am not sure yet but it wasnt as bad as I had feared. I think I could get used to it and I didnt seem to 'linger' of course we also have ceiling fans/bathroom fan in every room and the stairway so that helps.
As far as the efficiency I did have to spray more than the cleaner I used to use but that is mostly because it didn't add a 'slippery layer' but cost for cost it was still cheaper despite using more.
There were some areas of 'high traffic' that I could have used some grease cutter factor on but that was due to the condition to start with! Perhaps I could have a 'special potion' for those high traffic days. As it was it just took a bit of extra rubbing and it wasn't bad so maybe I just need to buff up a bit!
Oh, and no asthma, no wheezing, no smell, again I never really had huge problems with it but it did affect me for sure though I didnt really consciously think about it I hated mopping and I would always get short of breathe a bit and try to get hubby to mop instead (one chore he pretty much refuses to do).
I am going to try and MSDS the ingredient list later on but I cant find the stuff online right now.
CostA++++ (it was 2 for a jug and I 'might' have used 0.10 worth)
If you use a regular mop I also just found this online--maybe I will try it if I want to add the shine factor back in.
Combine 1/2 cup vinegar and a of gallon of warm water in a bucket. Use this to clean the floor. The acid in the vinegar cuts through oil, dirt and grime. Be sure to rinse the floor with clean water before polishing.
Mix 1/2 cup vinegar and 1/2 cup vegetable oil in a bucket. This is a wood floor polish that you buff into the floor with a soft clean cloth. The oil adds a little shine to your floor while the vinegar prevents the oil from sitting on top of the wood and making to floors greasy.
Store the mixtures in a cool and dry area. Vinegar has an almost indefinite shelf life. Due to the acidic nature of it, it's self preserving and doesn't require refrigeration. The polish however contains oil and will separate, requiring shaking prior to the next use.