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1.
Genes (Basel) ; 14(3)2023 02 21.
Article in English | MEDLINE | ID: mdl-36980814

ABSTRACT

Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.


Subject(s)
Bronchiectasis , Ciliary Motility Disorders , Humans , Male , Female , Retrospective Studies , Portugal , Bronchiectasis/diagnosis , Bronchiectasis/genetics , Genetic Testing , Ciliary Motility Disorders/diagnosis , Ciliary Motility Disorders/genetics
2.
Genes (Basel) ; 14(2)2023 01 27.
Article in English | MEDLINE | ID: mdl-36833253

ABSTRACT

Familial interstitial pneumonia (FIP) is defined as idiopathic interstitial lung disease (ILD) in two or more relatives. Genetic studies on familial ILD discovered variants in several genes or associations with genetic polymorphisms. The aim of this study was to describe the clinical features of patients with suspected FIP and to analyze the genetic variants detected through next-generation sequencing (NGS) genetic testing. A retrospective analysis was conducted in patients followed in an ILD outpatient clinic who had ILD and a family history of ILD in at least one first- or second-degree relative and who underwent NGS between 2017 and 2021. Only patients with at least one genetic variant were included. Genetic testing was performed on 20 patients; of these, 13 patients had a variant in at least one gene with a known association with familial ILD. Variants in genes implicated in telomere and surfactant homeostasis and MUC5B variants were detected. Most variants were classified with uncertain clinical significance. Probable usual interstitial pneumonia radiological and histological patterns were the most frequently identified. The most prevalent phenotype was idiopathic pulmonary fibrosis. Pulmonologists should be aware of familial forms of ILD and genetic diagnosis.


Subject(s)
Idiopathic Pulmonary Fibrosis , Lung Diseases, Interstitial , Humans , Retrospective Studies , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/genetics , Idiopathic Pulmonary Fibrosis/genetics , Polymorphism, Genetic , High-Throughput Nucleotide Sequencing
4.
J Bras Pneumol ; 47(6): e20210286, 2021.
Article in English, Portuguese | MEDLINE | ID: mdl-34932723

ABSTRACT

OBJECTIVE: Obstructive sleep apnea (OSA) is a common disorder associated with a significant economic burden. Continuous positive airway pressure (CPAP) and auto-titrating positive airway pressure (APAP) are recognized therapeutic options in patients with OSA, although treatment costs are higher with APAP. We conducted a study aimed at evaluating the effectiveness and potential cost savings resulting from the implementation of a protocol guiding the transition to CPAP in OSA patients previously treated with APAP. METHODS: This prospective study included patients with OSA under APAP who were followed up at the Sleep Medicine outpatient clinic of a tertiary referral hospital between January 2019 and January 2021. Treatment was switched to CPAP in patients who met the following criteria: satisfactory adaptation and adherence to APAP, residual apnea-hypopnea index (AHI) of < 5/hour, and no relevant air leaks. APAP and CPAP outcomes were compared and an estimate of the savings obtained by the transition from APAP to CPAP was calculated. RESULTS: Ninety-three patients were included in the study. APAP and CPAP were both effective in correcting obstructive events and improving daytime sleepiness. No significant differences were found regarding treatment adherence and tolerance between both PAP modalities. The selection of fixed-pressure CPAP through 90th or 95th percentile APAP pressure proved to be effective and an alternative strategy to titration polysomnography. At the end of this two-year study, the transition from APAP to CPAP enabled savings of at least 10,353€. CONCLUSION: The transition from APAP to CPAP may be an effective, well-tolerated, safe, and cost-saving strategy in patients with OSA.


Subject(s)
Sleep Apnea, Obstructive , Humans , Continuous Positive Airway Pressure , Cost-Benefit Analysis , Prospective Studies , Sleep Apnea, Obstructive/therapy
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