Hi All. Throwing this out there to see if anyone can help. Still no CF diagnoise.

Hi Everyone. Well, I had a ambry Pancreatitis Genetic panel done. Any one else, with pancritis problems, Cf etc, which know of theses mutations. G576A, (likely pathogenic) And R668C. (Variant of unknown Significance) Got as far as a CRMS Diagnose. Told neither of these are CF causing. I don't get this as I am still in limbo, The two high sweat test> 84, and 90. To make this short as I always write a book here, I do have good FVC. Low DLCO. (which I think is heart related) Chronic Asthma, Chronic Sinusitis, Allergies, Chronic Bronchitis, Failure to thrive, malnusorption disorder (most all my life) Chronic Pancritis, Osteoporosis, at early 40s. Constant on going infections, (cant seem to kick) Between the sinus and lung issues , the infections are chronic. So far just live with it. Gallbladder removed at 29 ys. IBS, IBD, Gastroritis, Colitis, Name any thing of the stomach I have been diagnosed. Many bouts of Pneumonia, recently last yr by ct. with Atelectasis and small plural effusion. Mucus Plugs. COPD. Any advice would be appreciated. Also was told from the Clinic I have gone to . The full genetic is back, and showed Nothing. This is hard to believe. Not quite sure of this though until I see it as I did speak with a Dr back at John Hopkins in the mapping, and I took it that this can take a very long time, and they will keep going with it. He also said I may have a very rare mutation's? or one that just has not been found yet. But still sitting with a diagnose of this CRMS,...
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums

Related Links:

This study explored the association between serum vitamin D levels and urinary tract infections in pregnant women.Study designIn this case control study, 187 participants including, 97 pregnant women diagnosed as a symptomatic UTI (case group) and 90 matched healthy pregnant women (control group) were consecutively enrolled from prenatal care clinic of Imam Reza Hospital in Urmia, North West of Iran. The two groups were matched for trimester and parity, and sexual intercourse. Blood samples were collected from both groups. Chemiluminescent immunoassay (CLIA) was used to evaluate the serum vitamin D levels. We used a binary...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
The U.S. Food and Drug Administration approved Vertex Pharmaceuticals Inc's combination treatment for a rare condition called cystic fibrosis, the agency said on Monday.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Boston-based Vertex Pharmaceuticals Inc. has achieved one of the biggest feats to date for cystic fibrosis patients — a treatment that could benefit 90 percent of patients with the rare lung disease. The FDA approved a combination of three drugs Monday called Trikafta, which targets a mutation in the F508del gene. That genetic error is found in approximately 90 percent of patients with the rare lung disease. The drug is set to be a blockbuster product for Vertex, which makes billions annually…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
CONCLUSION: A substantial proportion of infants diagnosed with CF after detection by NBS already showed evidence of lung disease. P. aeruginosa colonization was associated with increas ed Bhalla scores, highlighting the importance of this CF pathogen in early structural lung disease. The presence of bronchial wall thickening at such a young age may reflect the presence of airway inflammatory processes. The detection and quantification of structural abnormalities with the modified Bhalla score may aid in the identification of lung disease before it is clinically apparent.
Source: Clinics - Category: General Medicine Source Type: research
DiscussionOur case series illustrates the difficulty in managing patients with anaphylaxis to replacement therapy. In the era of novel therapies, such as emicizumab, the management of HA patients who experience anaphylaxis to replacement therapy is becoming easier and may obviate the need for ITI. Current treatment strategies for HB patients with such anaphylaxis, however, are limited to rFVIIa, and it continues to pose a challenge.
Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
ConclusionsThe present study demonstrated that the Inula helenium and Grindelia squarrosa, which have been traditionally used in Europe as medicinal plants, are a valuable source of active compounds with anti-inflammatory activity. Our observations justify the traditional use of I. helenium and G. squarrosa for a treatment inflammation-based diseases in respiratory tract.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
Review clinical reference information, guidelines, and medical news on cystic fibrosis--cystic fibrosis symptoms and cystic fibrosis treatment. Review causes of cystic fibrosis and cystic fibrosis carrier information.
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Resource Center Source Type: news
DiscussionGiven the multiorgan system potential adverse side effects of prednisone, proving noninferiority of an alternate regimen would be sufficient to make the alternative compare favorably to standard dose steroids. This is the first ever clinical trial in cardiac sarcoidosis and thus in addition to the listed goals of the trial, we will also establish a multi-center, multinational cardiac sarcoidosis clinical trials network. Such a collaborative infrastructure will enable a new era of high quality data to guide physicians when treating cardiac sarcoidosis patients.
Source: American Heart Journal - Category: Cardiology Source Type: research
The Food Allergy Research and Education wants to make Halloween inclusive for kids with food allergies, who may feel excluded because many Halloween foods are on their no-no list.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Conditions:   Vitamin D Deficiency;   Crohn Disease Interventions:   Drug: Vitamin D;   Drug: Placebo oral capsule Sponsors:   Nanjing University School of Medicine;   Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
More News: Allergy | Allergy & Immunology | Asthma | Bronchitis | Cardiology | Chronic Obstructive Pulmonary | Cystic Fibrosis | Gastroenterology | Genetics | Health | Heart | Insurance | Orthopaedics | Osteoporosis | Pancreas | Pancreatitis | Pneumonia | Respiratory Medicine | Sinusitis | Vitamins | Wikis