Geographic Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations in Saudi Arabia

ConclusionThe eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G>A (3120+1G>A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research

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Authors: Louagé A, Knoop C, Hanssens L Abstract INTRODUCTION: The aim of this study was to evaluate the impact of the transition period from childhood to adulthood in patients with cystic fibrosis (CF) being followed up in our reference center. METHODS: The clinical, functional, inflammatory and microbiological parameters of all transition patients were compared two years before (T-2) and two years after the transfer (T+2) from paediatric to adult centers and further analysed according to whether the transition conditions were optimal or suboptimal. RESULTS: Twenty-eight patients were included. The m...
Source: Revue des Maladies Respiratoires - Category: Respiratory Medicine Tags: Rev Mal Respir Source Type: research
SIX young cystic fibrosis sufferers get their hands on boxes of lifesaving pills at last after fighting in our crusade to win an NHS deal. Last year, all six spoke out in separate, tear-jerking Daily Express stories to plead for the medications produced by US firm Vertex.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
Cystic fibrosis related diabetes (CFRD), a common complication in cystic fibrosis, is associated with worse clinical outcomes [1 –4], and increases disease burden while adversely impacting quality of life [5]. Early diagnosis and treatment of CFRD may mitigate the associated decline in lung function, decreases in body mass index (BMI), and increased mortality [6–8]. Earlier glucose derangements during 75 g oral glucose c hallenge test (OGTT) such as impaired glucose tolerance (IGT; 2-hr OGTT glucose ≥7.8 mmol/L and
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Short Communication Source Type: research
Authors: Zupani─Ź MV, Škerjanc A Abstract OBJECTIVE: Cystic fibrosis is a genetic disorder that affects mostly lungs but also other organs. Modern treatment has transformed once fatal disease of childhood into the chronic disease of adulthood. Hence more patients enter the job market. Very few adolescents with cystic fibrosis receive some formal career guidance. There is still no professional career guidance for them in Slovenia. METHODS: Literature on workability of patients with cystic fibrosis was reviewed. Following the articles and Slovenian and foreign manuals the guidelines on career counselling o...
Source: Central European Journal of Public Health - Category: International Medicine & Public Health Tags: Cent Eur J Public Health Source Type: research
BRAVE cystic fibrosis sufferer Ayden Cochrane wept with joy last night, after we helped him secure the American wonder pill that could save his life. In a dramatic change of heart, drug maker Vertex contacted the Daily Express directly, telling us Ayden, 13, will receive Trikafta in the next 24 hours.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
AbstractPurpose of ReviewThe understanding of the human microbiome, especially of the oral cavity, has expanded exponentially since the advent of 16 rRNA PCR gene sequencing. Since the respiratory tract starts from the oral cavity and ends in the lung, study of the relationship between the oral microbiota and the lungs will allow us to understand the changes in lung disease compared with healthy state.Recent FindingsThe oral and lung microbiota were found to be similar, but the oral microbiota had greater diversity. The oral cavity especially the dorsal tongue was found to be a reservoir for bacteria causing pneumonia and ...
Source: Current Oral Health Reports - Category: Dentistry Source Type: research
What makes the Antabio ’s molecule candidate so unique is that it’s not an antibiotic. Antibiotics typically work by killing bacteria, whereas this molecule aims to disable the bacteria, making it less able to attack and inflame the lungs.
Source: Forbes.com Healthcare News - Category: Pharmaceuticals Authors: Source Type: news
THE MOTHER of stricken 13-year-old Ayden Cochrane last night made a desperate appeal for drugs bosses to save her son ’s life by giving him access to a wonder pill.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
The 2013 update of the Infection Prevention and Control (IP&C) Guideline outlined recommendations to prevent the spread of CF respiratory pathogens. We aimed to investigate the current infection control practi...
Source: BMC Pulmonary Medicine - Category: Respiratory Medicine Authors: Tags: Research article Source Type: research
UNDERWEIGHT PATIENTS WITH CYSTIC FIBROSIS HAVE ACCEPTABLE SURVIVAL AFTER LUNG TRANSPLANTATION: A UNOS REGISTRY STUDY. Chest. 2020 Jan 17;: Authors: Ramos KJ, Kapnadak SG, Bradford MC, Somayaji R, Morrell ED, Pilewski JM, Lease ED, Mulligan MS, Aitken ML, Gries CJ, Goss CH Abstract BACKGROUND: Reduced body mass index (BMI) is an absolute contraindication for lung transplantation (LTx) at most centers in the United States (US). Our objective was to quantify post-LTx survival of moderate-to-severely underweight cystic fibrosis (CF) patients (BMI
Source: Chest - Category: Respiratory Medicine Authors: Tags: Chest Source Type: research
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