Mounier-Kuhn syndrome in poorly controlled asthma.

INTRODUCTION: Mounier-Kuhn syndrome or tracheobronchomegaly, is a rare condition that consists of abnormal dilation of the trachea and main bronchi due to a pathological arrangement of smooth muscle fibers in this area. CASE REPORT: We present the case of a 46-year-old woman with poorly controlled asthma and recurrent infections, who was diagnosed with Mounier-Kuhn syndrome through a computed tomography scan revealing an unusual enlargement of the trachea with associated bronchiectasis. RESULTS: The diagnosis of Mounier-Kuhn syndrome is radiological, involving measurement of the trachea where a diameter >25 mm in men and >21 mm in women is observed. While diagnosis is sometimes incidental, there is an association with respiratory diseases such as asthma or COPD, hence clinical suspicion is important in patients with poorly controlled underlying conditions who present with recurrent infections, inadequate secretion management, or even hemoptysis. CONCLUSIONS: Despite its rarity, this syndrome significantly impacts patients' quality of life. Diagnosis and management involve comprehensive evaluations including computed tomography, with a multidisciplinary approach including pulmonologists and radiologists. Exploring its clinical features, associations with other respiratory diseases and treatment options is crucial in managing this rare respiratory condition.

Is Obesity a Problem in New Cystic Fibrosis Treatments?

INTRODUCTION: Malnutrition has always been a problem in CF (cystic fibrosis) patients; however, new treatments with CFTR (cystic fibrosis transmembrane conductance regulator protein) modulators have led to weight gain, with some patients at risk of overweight and obesity. OBJECTIVE: Our study aimed to analyze the evolution of BMI (body mass index) after one year of treatment with triple therapy and the factors associated with weight gain in CF patients undergoing treatment with triple therapy with CFTR protein modulators (ETI) (elexacaftor/tezacaftor/ivacaftor). METHODS: We conducted a prospective, observational, longitudinal, multicenter study in patients diagnosed with cystic fibrosis, aged 18 years or older, with at least one F508del allele and who underwent ETI therapy for at least one year, from 2020 to 2023. One hundred and eight patients from two cystic fibrosis units in Spain, Princess University Hospital of Madrid (74 patients) and Central University Hospital of Asturias (HUCA) (34 patients), were included. Demographic data, anthropometric data, lung function, and exacerbations were collected, comparing the data in the previous year to the start of therapy with the results after one year of treatment. Multivariant models were developed to account for repeated weight and BMI measurements, using a mixed effects model approach and accounting for possible modifying factors Results: One hundred and eight patients were included in the study, 58 men (53.7%) and 50 women (46.3%) with a mean age of 29.5 ± 9.4 years (18-59). Patient weight and BMI were recorded at baseline and at 3-month intervals during the study period. The weight increased from 59.6 kg to 62.6 kg and BMI increased from 21.9 kg/m2 to 23.0 kg/m2 after one year of treatment (p < 0.0001 for both). The proportion of underweight individuals decreased after one year of ETI therapy, from 9.3% to 1.9%, while the proportion of overweight or obese individuals increased from 8.3% to 22.9 % at the same time (p < 0.001). In relation to exacerbations, there is a significant increase in the number of patients who did not have any exacerbations after one year of treatment, which increased from 10.2% to 46.2% (p < 0.001), while the number of patients who had >4 exacerbations decreased significantly, from 40.7% to 1.9% (p < 0.001). FEV1% (forced expiratory volume) increased from 63.9 ± 20.9 to 76.8 ± 21.4 (p < 0.001) and the VR/TLC (residual volume/total lung capacity) value decreased from 45.1 ± 10.9 to 34.9 ± 6.2 (p < 0.001). The proportion with FEV1% > 80% increased from 23.1% before ETI therapy to 49.1% one year after ETI therapy. We performed multivariate mixed models to evaluate the evolution of BMI changes with time, accounting for repeated measures and for possible modifying factors. After the introduction of the triple therapy, patients included in the study had significant weight gain during the 12 months, and when including different covariates in the multivariate mixed model, we found that lower baseline BMI, lower baseline FEV1 and FVC (forced vital capacity), and higher VR/TLC value and higher number of exacerbations were associated with higher BMI changes over the study period. CONCLUSIONS: CF patients treated with triple therapy experience significant weight gain, increasing the proportion of overweight patients. CF patients who experienced greater weight gain were those with worse BMI at the start of treatment, as well as patients with worse lung function and a greater number of exacerbations in the year before starting ETI therapy.

Cytologic features of a pleural effusion after silicone breast implant rupture.

Pleural effusion is an extremely rare complication of ruptured breast silicone implants. Rupture may be related to a recent trauma or occur spontaneously, making its diagnosis more difficult. In the few reported cases, cytology did not play a relevant role in its diagnosis. We describe and illustrate a silicone foreign body reaction in a pleural effusion. Cytologic findings were so remarkable as to permit a specific diagnosis. The patient, a 37-year-old female with a history of previous bilateral breast implant surgery was admitted because of a pleural effusion. Computed tomography scan showed a left effusion with secondary atelectasis and bilateral breast rupture with lymph node "siliconomas." Cytologic analysis of the effusion showed well-defined droplets or globules of transparent material, in addition to a microvacuolized background. Where abundant silicone droplets induced a staining artifact of the smears. These were cellular with numerous macrophages containing large vacuoles displacing the nuclei to the periphery. Some had a signet cell ring appearance, while others showed multinucleation. Flow cytometry revealed a predominant macrophagic cell population. With the increasing use of silicone breast implants, rare complications such as pleural effusion may become more common. The pathologist must consider this possibility when extracellular transparent droplets or evidence of a foreign body-type reaction are present. The artifact appearance of the smears may help to suspect it. This rare complication must be always considered when evaluating effusions in patients with silicone breast implants.

Experience With Elexacaftor/Tezacaftor/Ivacaftor in Patients With Cystic Fibrosis and Advanced Disease.

INTRODUCTION: Elexacaftor/tezacaftor/ivacaftor (ETI) was used through the early access programme in Spain from December 2019 in cystic fibrosis (CF) patients with homozygous or heterozygous F508del mutation with advanced lung disease. METHODOLOGY: Multicentre, ambispective, observational, study in which 114 patients in follow-up in 16 national CF units were recruited. Clinical data, functional tests, nutritional parameters, quality of life questionnaires, microbiological isolates, number of exacerbations, antibiotic treatments and side effects were collected. The study also compared patients with homozygous and heterozygous F508del mutations. RESULTS: Of the 114 patients, 85 (74.6%) were heterozygous for F508del mutation, and the mean age was 32.2±9.96 years. After 30 months of treatment, lung function measured by FEV1% showed improvement from 37.5 to 48.6 (p<0.001), BMI increased from 20.5 to 22.3 (p<0.001), and all isolated microorganisms decreased significantly. The total number of exacerbations was also significantly reduced from 3.9 (±2.9) to 0.9 (±1.1) (p<0.001). All items in the CFQ-R questionnaire showed improvement, except for the digestive domain. Oxygen therapy use decreased by 40%, and only 20% of patients referred for lung transplantation remained on the active transplant list. ETI was well-tolerated, with only 4 patients discontinuing treatment due to hypertransaminemia. CONCLUSIONS: ETI decreases the number of exacerbations, increases lung function and nutritional parameters, decrease in all isolated microorganisms, for 30 months of treatment. There is an improvement in the CFQ-R questionnaire score except for the digestive item. It is a safe and well-tolerated drug.

Real Life With Tezacaftor and Ivacaftor in Adult Patients With Cystic Fibrosis: Spanish Multicenter Study

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