anyone have DeltaF508and p.Leu467pro

Hello just found out my mutations Hoping someone else has these or any information about them. exact sequence is c.1521-1523delCTT and p.Leu467Pro i was told the second one is a rare type i am 36 years old from melbourne australia lung function 85%_89% have only started to feel the impact of Cf the past few years i have had three hospital admissions since 2012 my wife and i are considering IVF so i would love to chat with anyone who has undergone IVF or may ave information on the above mutation thanks in advance Jake
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums

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H Kulkarni, S Kansra, S KarandeJournal of Postgraduate Medicine 2019 65(4):193-196
Source: Journal of Postgraduate Medicine - Category: Internal Medicine Authors: Source Type: research
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Source: The Aspergillus Website - updates - Category: Respiratory Medicine Authors: Source Type: news
Improved lung function, increased BMI, reduced need for IV antibiotics seen after one year of therapy
Source: Pulmonary Medicine News - Doctors Lounge - Category: Respiratory Medicine Tags: Family Medicine, Infections, Internal Medicine, Pediatrics, Pharmacy, Pulmonology, Journal, Source Type: news
Authors: Lee L, Smith-Whitley K, Banks S, Puckrein G Abstract Sickle cell disease (SCD) is an inherited blood disorder most common among African American and Hispanic American persons. The disease can cause substantial, long-term, and costly health problems, including infections, stroke, and kidney failure, many of which can reduce life expectancy. Disparities in receiving health care among African Americans and other racial/ethnic minority groups in the United States are well known and directly related to poor outcomes associated with SCD. As an orphan disease-one that affects
Source: Public Health Reports - Category: International Medicine & Public Health Tags: Public Health Rep Source Type: research
FRIDAY, Oct. 11, 2019 -- After one year of therapy with lumacaftor-ivacaftor in a real-world setting, adolescents and adults with cystic fibrosis and Phe508del homozygous mutation experienced an improvement in lung function, increase in body mass...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
ABSTRACT Objective: To evaluate the association of body mass index (BMI) and albumin with pulmonary function in cystic fibrosis (CF) pediatric subjects. Methods: This is a cross-sectional study with clinically stable CF ’ s subjects. Clinical (pulmonary function) and nutritional evaluation (body mass index and albumin) were performed. Univariate analysis was performed using simple linear correlations. Regression analysis was performed using an exit level of p
Source: Revista Paulista de Pediatria - Category: Pediatrics Source Type: research
Conclusions: The frequency of HS in patients with CF is high and it is not related to malnutrition, according to the parameters of BMI, TSF and MAMC. The values of MAC and MAMC indicated a greater reserve of muscle mass in patients with HS.RESUMO Objetivo: Determinar a preval ência de esteatose hepática (EH) em crianças e adolescentes com fibrose cística (FC) e associá-la com o estado nutricional. Métodos: Estudo transversal com crianças e adolescentes com diagnóstico de FC. Foram aferidos o peso e a altura para o cálculo do índice de massa corpóre...
Source: Revista Paulista de Pediatria - Category: Pediatrics Source Type: research
Network study group Abstract RATIONALE: Lumacaftor-ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) modulator combination recently approved for patients with cystic fibrosis (CF) homozygous for the Phe508del mutation. OBJECTIVES: To evaluate the safety and effectiveness of lumacaftor-ivacaftor in adolescents (≥12 years) and adults (≥18 years) in a real-life post-approval setting. METHODS: The study was conducted in the 47 CF reference centers in France. All patients who initiated lumacaftor-ivacaftor from January 1st to December 31st 2016 were eligible. Patients were evalua...
Source: American Journal of Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Am J Respir Crit Care Med Source Type: research
CONCLUSIONS: The currently available trials do not provide sufficient evidence to determine the effects (benefits or harms) of using inhaled nitric oxide to treat pain (vaso-occlusive) crises in people with sickle cell disease. Large-scale, long-term trials are needed to provide more robust data in this area. Patient-important outcomes (e.g. measures of pain and time to pain resolution and amounts of analgesics used), as well as use of healthcare services should be measured and reported in a standardized form. PMID: 31603241 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
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