Newborn screening in France: news and perspectives
Ann Biol Clin (Paris). 2024 Apr 19;82(1):24-31. doi: 10.1684/abc.2024.1869.ABSTRACTNewborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias...
Source: Annales de Biologie Clinique - April 19, 2024 Category: Biochemistry Authors: Emeline Gernez Estelle Roland Claire-Marie Dhaenens Gilles Renom Karine Mention Source Type: research
Ultra-fast < em > in-vivo < /em > directional dark-field x-ray imaging for visualising magnetic control of particles for airway gene delivery
In this study, ultrafast directional dark-field synchrotron X-ray imaging was utlilised to understand how magnetic nanoparticles move within a live, anaesthetised, rat airway under the influence of static and moving
magnetic fields.
Main results: Magnetic nanoparticles emerging from an indwelling tracheal cannula were detectable during delivery, with dark-field imaging increasing the signal-to-noise ratio of this event by 3.5 times compared to the X-ray transmission signal. Particle movement as well as particle retention was evident. Dynamic magnetic fields could manipulate the magnetic particles in-situ.&a...
Source: Physics in Medicine and Biology - April 19, 2024 Category: Physics Authors: Ronan Smith Kaye S Morgan Alexandra McCarron Patricia Cmielewski Nichole Reyne David Parsons Martin Donnelley Source Type: research
Newborn screening in France: news and perspectives
Ann Biol Clin (Paris). 2024 Apr 19;82(1):24-31. doi: 10.1684/abc.2024.1869.ABSTRACTNewborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias...
Source: Annales de Biologie Clinique - April 19, 2024 Category: Biochemistry Authors: Emeline Gernez Estelle Roland Claire-Marie Dhaenens Gilles Renom Karine Mention Source Type: research
Septin-dependent defense mechanisms against Pseudomonas aeruginosa are stalled in cystic fibrosis bronchial epithelial cells
This study aimed to investigate the role of SEPT7 in controlling P. aeruginosa infection in bronchial epithelial cells, particularly in CF. The study findings showed that SEPT7 encages P. aeruginosa in bronchial epithelial cells and its inhibition downregulates the expression of other SEPTs. In addition, P. aeruginosa does not regulate SEPT7 expression. Finally, we found that inhibiting SEPT7 expression in bronchial epithelial cells (BEAS-2B 16HBE14o- and primary cells) resulted in higher levels of internalized P. aeruginosa and decreased IL-6 production during infection, suggesting a crucial role of SEPT7 in the host resp...
Source: European Journal of Cell Biology - April 18, 2024 Category: Cytology Authors: Sylvain Brax Cl émence Gaudin Claire Calmel Pierre-Yves Bo ëlle Harriet Corvol Manon Ruffin Lo ïc Guillot Source Type: research
Septin-dependent defense mechanisms against Pseudomonas aeruginosa are stalled in cystic fibrosis bronchial epithelial cells
This study aimed to investigate the role of SEPT7 in controlling P. aeruginosa infection in bronchial epithelial cells, particularly in CF. The study findings showed that SEPT7 encages P. aeruginosa in bronchial epithelial cells and its inhibition downregulates the expression of other SEPTs. In addition, P. aeruginosa does not regulate SEPT7 expression. Finally, we found that inhibiting SEPT7 expression in bronchial epithelial cells (BEAS-2B 16HBE14o- and primary cells) resulted in higher levels of internalized P. aeruginosa and decreased IL-6 production during infection, suggesting a crucial role of SEPT7 in the host resp...
Source: European Journal of Cell Biology - April 18, 2024 Category: Cytology Authors: Sylvain Brax Cl émence Gaudin Claire Calmel Pierre-Yves Bo ëlle Harriet Corvol Manon Ruffin Lo ïc Guillot Source Type: research
Bronchiectasis not due to cystic fibrosis
Med Clin (Barc). 2024 Apr 17:S0025-7753(24)00145-3. doi: 10.1016/j.medcli.2024.01.023. Online ahead of print.ABSTRACTBronchiectasis is a clinical-radiological condition composed of irreversible bronchial dilation due to inflammation and infection of the airways, which causes respiratory symptoms, usually productive cough and infectious exacerbations. Bronchiectasis can have multiple causes, both pulmonary and extrapulmonary, and its clinical presentation is very heterogenous. Its prevalence is unknown, although up to 35-50% of severe COPD and 25% of severe asthma present them, so their underdiagnosis is evident. Chronic ba...
Source: Medicina Clinica - April 18, 2024 Category: General Medicine Authors: Rosa Gir ón Rafael Golpe Miguel Ángel Martínez-García Source Type: research
Short-term azithromycin use is associated with QTc interval prolongation in children with cystic fibrosis
CONCLUSION: Short-term use of azithromycin prophylaxis in pediatric patients with mild CF slightly increased the QTc interval in the first and third months of follow-up. Nevertheless, all QTc interval changes fell within the safety zone. Notably, 1 month of follow-up treatment should be performed to check for any alteration in the QTc interval. If increased QTc interval duration is not detected in the first month, azithromycin prophylaxis can be safely prescribed.PMID:38637249 | DOI:10.1016/j.arcped.2024.02.004 (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - April 18, 2024 Category: Pediatrics Authors: As ım Enhoş Hazar Do ğuş Kus Can Yilmaz Yozgat Erkan Cak ır Hakan Yazan Ahmet Berk Erol Ufuk Erenberk Yilmaz Yozgat Source Type: research
"Therapeutic improvement of CFTR function and reversibility of bronchiectasis in cystic fibrosis." M.O. Wielpütz and M.A. Mall. Eur Respir J 2024; 63: 2400234.
(Source: European Respiratory Journal)
Source: European Respiratory Journal - April 18, 2024 Category: Respiratory Medicine Tags: Author corrections Source Type: research
Precision medicine in cystic fibrosis: predictive role of forskolin-induced swelling assay
Extract
People with cystic fibrosis (CF) carrying at least one copy of the F508del allele can benefit from a small molecule therapy referred to as cystic fibrosis transmembrane conductance regulator (CFTR) modulators (CFTRm). The triple CFTRm combination elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) has been shown to markedly improve clinical outcomes such as the percentage of predicted forced expiratory volume in 1 s (ppFEV1) and body mass index (BMI) [1]; however, granular data from the same clinical trial also showed that the treatment response to CFTRm varied among people with CF, even among those carrying the sa...
Source: European Respiratory Journal - April 18, 2024 Category: Respiratory Medicine Authors: Furstova, E., Drevinek, P., Novotna, S., Libik, M., Benesova, K., Borek-Dohalska, L., Sakmarova, K., Modrak, M., Macek, M., Dousova, T. Tags: Research Letters Source Type: research
Radiographic Outcomes in Paediatric Bronchiectasis and Factors Associated with Reversibility
CONCLUSIONS: This first large cohort confirms bronchiectasis in children is often reversible with appropriate management. Younger aged children and those with lesser radiographic severity at diagnosis were most likely to achieve radiographic reversibility whilst those with PsA infection were least likely.PMID:38631023 | DOI:10.1164/rccm.202402-0411OC (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - April 17, 2024 Category: Respiratory Medicine Authors: Dustin R Mills Ian B Masters Stephanie T Yerkovich Jane McEniery Nitin Kapur Anne B Chang Julie M Marchant Vikas Goyal Source Type: research
Radiographic Outcomes in Paediatric Bronchiectasis and Factors Associated with Reversibility
CONCLUSIONS: This first large cohort confirms bronchiectasis in children is often reversible with appropriate management. Younger aged children and those with lesser radiographic severity at diagnosis were most likely to achieve radiographic reversibility whilst those with PsA infection were least likely.PMID:38631023 | DOI:10.1164/rccm.202402-0411OC (Source: Am J Respir Crit Car...)
Source: Am J Respir Crit Car... - April 17, 2024 Category: Intensive Care Authors: Dustin R Mills Ian B Masters Stephanie T Yerkovich Jane McEniery Nitin Kapur Anne B Chang Julie M Marchant Vikas Goyal Source Type: research
Radiographic Outcomes in Paediatric Bronchiectasis and Factors Associated with Reversibility
CONCLUSIONS: This first large cohort confirms bronchiectasis in children is often reversible with appropriate management. Younger aged children and those with lesser radiographic severity at diagnosis were most likely to achieve radiographic reversibility whilst those with PsA infection were least likely.PMID:38631023 | DOI:10.1164/rccm.202402-0411OC (Source: Respiratory Care)
Source: Respiratory Care - April 17, 2024 Category: Respiratory Medicine Authors: Dustin R Mills Ian B Masters Stephanie T Yerkovich Jane McEniery Nitin Kapur Anne B Chang Julie M Marchant Vikas Goyal Source Type: research
Radiographic Outcomes in Paediatric Bronchiectasis and Factors Associated with Reversibility
CONCLUSIONS: This first large cohort confirms bronchiectasis in children is often reversible with appropriate management. Younger aged children and those with lesser radiographic severity at diagnosis were most likely to achieve radiographic reversibility whilst those with PsA infection were least likely.PMID:38631023 | DOI:10.1164/rccm.202402-0411OC (Source: Respiratory Care)
Source: Respiratory Care - April 17, 2024 Category: Respiratory Medicine Authors: Dustin R Mills Ian B Masters Stephanie T Yerkovich Jane McEniery Nitin Kapur Anne B Chang Julie M Marchant Vikas Goyal Source Type: research
Radiographic Outcomes in Paediatric Bronchiectasis and Factors Associated with Reversibility
CONCLUSIONS: This first large cohort confirms bronchiectasis in children is often reversible with appropriate management. Younger aged children and those with lesser radiographic severity at diagnosis were most likely to achieve radiographic reversibility whilst those with PsA infection were least likely.PMID:38631023 | DOI:10.1164/rccm.202402-0411OC (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - April 17, 2024 Category: Respiratory Medicine Authors: Dustin R Mills Ian B Masters Stephanie T Yerkovich Jane McEniery Nitin Kapur Anne B Chang Julie M Marchant Vikas Goyal Source Type: research
Pulmonary Function and Body Composition Parameters of Children with Cystic Fibrosis from a Hight Complexity Institution between 2015 and 2018.
An adequate nutritional status in patients with cystic fibrosis correlates with higher survival and better pulmonary function. Body mass index (BMI) is an anthropometric indicator with independent association with pulmonary function, and it can hide alterations of nutritional status in cystic fibrosis. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - April 17, 2024 Category: Perinatology & Neonatology Authors: Aura Mar ía Salazar-Solarte, Laura Torres-Canchala, Frank Jesús Carrera-Gil, Diana María Quimbayo-Wilches Source Type: research
