Search results for "Cystic"

Combined Bacteriophage and Antibiotic Treatment Prevents Pseudomonas aeruginosa Infection of Wild Type and cftr- Epithelial Cells

2020

International audience; With the increase of infections due to multidrug resistant bacterial pathogens and the shortage of antimicrobial molecules with novel targets, interest in bacteriophages as a therapeutic option has regained much attraction. Before the launch of future clinical trials, in vitro studies are required to better evaluate the efficacies and potential pitfalls of such therapies. Here we studied in an ex vivo human airway epithelial cell line model the efficacy of phage and ciprofloxacin alone and in combination to treat infection by Pseudomonas aeruginosa. The Calu-3 cell line and the isogenic CFTR knock down cell line (cftr-) infected apically with P. aeruginosa strain PAO…

Extensive molecular analysis of patients bearing CFTR-related disorders.

2012

Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…

Autosomal dominant polycystic kidney disease—in vitro culture of cyst-lining epithelial cells

1992

The major form of autosomal dominant polycystic kidney disease (ADPKD) in humans is linked to the PKD1 gene on chromosome 16p. The identity of the gene and the underlying pathogenetic mechanisms are not yet defined. Cyst-lining epithelial cells derived from a polycystic kidney were successfully grown in culture and designated MZ-PKD-1 cells. By linkage analysis, the related pedigree of the nephrectomized patient could be linked to the PKD1 gene on chromosome 16p. Thus, these cells exhibit the genotype of a mutated PKD1 gene and represent an in vitro culture model for ADPKD involving chromosome 16p. The antigenic phenotype was characterized immunohistologically by epithelial differentiation …

Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?

2020

Gene therapy is an alternative therapy in many respiratory diseases with genetic origin and currently without curative treatment. After five decades of progress, many different vectors and gene editing tools for genetic engineering are now available. However, we are still a long way from achieving a safe and efficient approach to gene therapy application in clinical practice. Here, we review three of the most common rare respiratory conditions—cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), and primary ciliary dyskinesia (PCD)—alongside attempts to develop genetic treatment for these diseases. Since the 1990s, gene augmentation therapy has been applied in multiple clinical tria…

Molecular Genetic Investigations in Autosomal Dominant Polycystic Kidney Disease. Gene Mutation Detection, Linkage Analysis, and Preliminary ACE Gene…

1997

A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.

2009

Abstract Background: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because the relative prevalence of mutations strongly depends on the ethnic background, first-level testing of CF as defined by recent consensus recommendations ought to be adaptable to the ethnicity of patients. Methods: We therefore developed and implemented a diagnostic approach to first-level testing for CF based on published mutation frequencies and Pyrosequencing (PSQ) technology that we complemented with standard procedures of mutation…

Quality management in patients associations. Diagnosis in the Spanish Federation of Cystic Fibrosis

2020

La Federación Española de Fibrosis Quística tiene como misión agrupar a las Asociaciones de Fibrosis Quística para mejorar la calidad de vida de las personas con Fibrosis Quística y sus familias. El despliegue de este movimiento en los últimos 20 años no ha sido igual en todas las asociaciones que lo componen. Este artículo, expone el diagnóstico de la cuestión. Con una metodología cuantitativa y cualitativa, se ha triangulando la información procedente de: análisis documental, entrevistas semiestructuradas y encuestas. Los resultados obtenidos plantean la gestión con calidad como elemento favorecedor del fortalecimiento asociativo y la figura del profesional de trabajo social como impulsor…

HDlive ultrasound images in assisted reproduction treatment.

2012

Abstract The volume ultrasound technology software known as the HDlive technique represents an innovative tool, a step towards an even more realistic anatomical visualization of pelvic organ structures. HDlive can help improve physician–patient communication with the aid of life-like images and might prove useful in the field of assisted reproduction treatment. The clinical application of this novel ultrasound technology in assisted reproduction treatment deserves scientific evaluation.

Cystic degeneration of uterine leiomyoma during ulipristal acetate treatment

2016

Degenerative cyst formation  is a rare phenomenon in-between uterine leiomyomas, however, both patients and physicians have to be aware of this possibility when using ullipristal acetate as this event may guide to the inaccurate diagnosis of an adnexal malignant pathology.

Contemporary genetic technologies and female reproduction

2012

Background The Fifth Evian Annual Reproduction (EVAR) Workshop Meeting discussed knowledge regarding contemporary genetics in female reproduction. Methods Specialist reproductive medicine clinicians and geneticists delivered presentations based on published literature and current research. The content of this report is based on the expert presentations and subsequent group discussions that took place during this Workshop. Results Numerous ovarian genes with a role in infertility have been identified. Future challenges for genetic screening of patients, such as those with polycystic ovary syndrome, primary ovarian insufficiency or endometriosis, include the identification of high-throughput …