P.arg75.gln

Hi, i was wondering if anyone had this mutation? I've had chronic pancreatitis and breathing problems the last 3 years. I was being treated last year at a Certfied CF Clinic. They were looking into CFRD but I only have the one mutation and then switched insurances. Thank you.
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums

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The objective of this study was to analyze the current evidence for the use of pancreatic enzyme replacement therapy (PERT) in affecting survival and quality of life in patients with pancreatic exocrine insufficiency (PEI). Systematic searches of the literature were performed using the PubMed database. Articles were selected for inclusion if they reported findings from trials assessing the effects of PERT on quality of life, survival, malabsorption, growth parameters (such as height, body weight and body mass index), or gastrointestinal symptoms (such as abdominal pain, stool consistency and flatulence). PERT improved PEI-...
Source: World Journal of Gastroenterology : WJG - Category: Gastroenterology Authors: Tags: World J Gastroenterol Source Type: research
Conclusions This review describes how leukocyte-heparanase can be a double-edged sword in tumor progression; it can enhance tumor immune surveillance and tumor cell clearance, but also promote tumor survival and growth. We also discuss the potential of using heparanase in leukocyte therapies against tumors, and the effects of heparanase inhibitors on tumor progression and immunity. We are just beginning to understand the influence of heparanase on a pro/anti-tumor immune response, and there are still many questions to answer. How do the pro/anti-tumorigenic effects of heparanase differ across different cancer types? Does...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
r A Abstract The heterogenous catagory "specific types of diabetes due to other causes" encompasses disturbances in glucose metabolism due to other endocrine disorders such as acromegaly or hypercortisolism, drug-induced diabetes (e. g. antipsychotic medications, glucocorticoids, immunosuppressive agents, highly active antiretroviral therapy (HAART)), genetic forms of diabetes (e. g. Maturity Onset Diabetes of the Young (MODY), neonatal diabetes, Down Syndrome, Klinefelter Syndrome, Turner Syndrome), pancreatogenic diabetes (e. g. postoperatively, pancreatitis, pancreatic cancer, haemochromatosis, ...
Source: Wiener Klinische Wochenschrift - Category: General Medicine Authors: Tags: Wien Klin Wochenschr Source Type: research
Objectives: Pancreatic insufficiency in children is usually associated with diseases such as cystic fibrosis, Shwachman-Diamond syndrome, or chronic pancreatitis. Fecal elastase-1 is a reliable laboratory test for the diagnosis of exocrine pancreatic insufficiency (EPI). Transient pancreatic insufficiency has been rarely described and data on this entity are lacking in the medical literature. In this retrospective study we report 17 cases of transient pancreatic insufficiency presented mainly with failure to thrive and/or diarrhea. Methods: We followed 43 children (age range 1 month–18 years) with low fecal elas...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Pancreatology Source Type: research
β1 syntrophin supports autophagy initiation and protects against cerulein-induced acute pancreatitis. Am J Pathol. 2019 Jan 14;: Authors: Ye R, Onodera T, Blanchard PG, Kusminski CM, Esser V, Brekken RA, Scherer PE Abstract Syntrophins are a family of proteins forming membrane-anchored scaffolds and serving as adaptors for various transmembrane and intracellular signaling molecules. To understand the physiological roles of β1 syntrophin, one of the least characterized members, we generated mouse models to eliminate β1 syntrophin specifically in the endocrine or exocrine pancreas. β...
Source: The American Journal of Pathology - Category: Pathology Authors: Tags: Am J Pathol Source Type: research
This article represents the summary of the overview presentations at the National Institute of Diabetes and Digestive and Kidney Diseases workshop including an ongoing drug trial in acute pancreatitis; a successful drug development network developed by the Cystic Fibrosis Foundation; and considerations for subject selection in drug trials, incorporating Food and Drug Administration guidelines on clinical trial design and clinical outcome measures. The summaries of each working group follow separately in accompanying articles.
Source: Pancreas - Category: Gastroenterology Tags: Conference Reports Source Type: research
Forskolin-induced swelling (FIS) of intestinal organoids from individuals with cystic fibrosis (CF) measures function of the cystic fibrosis transmembrane conductance regulator (CFTR), the protein mutated in CF. We investigated whether FIS corresponds with clinical outcome parameters and biomarkers of CFTR function in 34 infants diagnosed with CF. Relationships with FIS were studied for indicators of pulmonary and gastrointestinal disease. Children with low FIS had higher levels of immunoreactive trypsinogen (p=0.030) and pancreatitis-associated protein (p=0.039), more often had pancreatic insufficiency (p
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Original Articles: Cystic fibrosis Source Type: research
ConclusionOur study reveals that IVS8 poly-T variation affects severity of acute pancreatitis in women and that existent co-morbidities worsen the clinical course of the disease.
Source: Journal of Gastrointestinal Surgery - Category: Surgery Source Type: research
Purpose of review Pancreatic exocrine insufficiency (PEI), defined as a secretion of pancreatic enzymes and bicarbonate insufficient to maintain a normal digestion, is a frequent but frequently underdiagnosed and undertreated condition. PEI may be secondary to different pancreatic diseases and extrapancreatic conditions. Recent data support the high clinical relevance of PEI and its treatment. Recent findings Together with symptoms of maldigestion, PEI is associated with nutritional deficiencies leading to osteoporosis, low-trauma fractures, sarcopenia and increased mortality. No single widely available test allows to...
Source: Current Opinion in Gastroenterology - Category: Gastroenterology Tags: PANCREAS: Edited by Timothy B. Gardner Source Type: research
The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not fully characterized, such as the mutation p.Val232Asp (c.695T > A). The aim of this study was to describe CF patients with the V232D mutation. We identify CF children with the V232D mutation detected by NBS and compare them with CF adults with this mutation whose diagnosis was prompted by clinical symptoms in the same peri...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
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