Triple Therapy for Cystic Fibrosis (Elexacaftor, Tezacaftor, and Ivacaftor): Desensitization After Skin Rash.

Cystic fibrosis (CF) is an autosomal recessive disorder of the CF transmembrane conductance regulator (CFTR) gene. CFTR modulators are novel approved therapies, and triple therapy with elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) is the current gold standard for patients with at least one F508del mutation. CFTR modulators are usually well-tolerated, but some adverse effects may occur, including skin rash.

[Pulmonary Amyloidosis: A Diagnostic Challenge].

Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis. We report two cases.

Molecular identification and genotyping of Pseudomonas aeruginosa isolated from cystic fibrosis and non-cystic fibrosis patients with bronchiectasis.

There is no standard methodology for the molecular identification and genotyping of Pseudomonas aeruginosa which are frequently isolated in bronchiectasis patients. Hence, the main goal of this work was to propose a methodology capable to simultaneously identify and genotype, in less than 6 h, clinical P. aeruginosa collected from cystic fibrosis (CF) and non-CF patients with bronchiectasis.

A novel immunodeficiency syndrome as a rare cause of secondary pulmonary alveolar proteinosis: a diagnosis after 5 decades.

Case report of a male patient with a five-decade follow-up history in a tertiary care hospital distinguished for malabsorption syndrome, failure-to-thrive, meningitis and recurrent bacterial, fungal and mycobacterial pulmonary infections. Additionally, he developed epidermodysplasia verruciformis, several in situ spinocellular carcinomas and an uncharacteristic parenchymal lung disease. Surgical lung biopsy suggested pulmonary alveolar proteinosis with fibrotic change.

SNaPaer: a practical single nucleotide polymorphism multiplex assay for genotyping of Pseudomonas aeruginosa.

Multilocus sequence typing (MLST) represents the gold standard genotyping method in studies concerning microbial population structure, being particularly helpful in the detection of clonal relatedness. However, its applicability on large-scale genotyping is limited due to the high cost and time spent on the task. The selection of the most informative nucleotide positions simplifies genomic characterization of bacteria.

[Necrotizing pneumonia - a rare complication].

Necrotizing pneumonia is a rare complication of community-acquired pneumonia associated with destruction of the lung tissue during the infection and rise of necrotic foci in consolidated areas. Staphylococcus aureus, Streptococcus pyogenes, Nocardia, Klebsiella pneumoniae and Streptococcus pneumoniae are the most common causative agents. Risk factors for developing necrotizing pneumonia include smoking, alcoholism, old age, diabetes mellitus, chronic lung diseases or liver disease.

[Lymphangioleiomyomatosis - report of three cases].

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of unknown aetiology. It is characterized by proliferation of abnormal smooth -muscle cells throughout the peribronchial, perivascular and perilymphatic regions of the lung. LAM may occur sporadically, in association with tuberous sclerosis complex (TSC) or inheritable multiorgan hamartomatosis.

Proteinuria in cystic fibrosis: a possible correlation between genotype and renal phenotype.

Objective: To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity.

Methods: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion < 150 mg/day (low-proteinuria); and protein excretion > 150 mg/day (highproteinuria).

Sarcoidosis: a less common presentation.

The clinical presentation of sarcoidosis is diverse and in over 90% of patients there is pulmonary involvement. The most common features of the radiographic findings at the time of diagnosis are bilateral hilar lymphadenopathy and pulmonary infiltration. The authors report the case of a young female patient who presented with multiple bilateral nodular shadows on chest radiograph.

Evaluation of bone mineral density in cystic fibrosis patients.

Patients with cystic fibrosis (CF) have an increasing life span and osteoporosis has become a more recognised problem in these patients. The pathogenesis of low bone mineral density (BMD) in CF seems to be multifactorial and the aim of this study was to assess the prevalence of low BMD in a group of CF outpatients and to relate the findings with the variables studied. The study included 22 patients aged between 14 and 45 years (mean age 26.