Fukuoka University Tsukushi Hospital

ABSTRACTBackground and ObjectiveGenetic polymorphisms have been associated with susceptibility to interstitial lung diseases including idiopathic pulmonary fibrosis (IPF). We have now examined the relation between single nucleotide polymorphisms (SNPs) and clinical course, including acute exacerbation (AE), in addition to disease susceptibility for IPF and unclassifiable idiopathic interstitial pneumonias (IIPs).MethodsDNA samples were collected from 223 IPF patients and 160 unclassifiable IIP patients included in a prospective, multicentre observational study in Japan. Nonfibrotic control subjects (n = 379) were selected from a previous study. Genotyping of TERT rs2736100, TERC rs1881984, MUC5B rs35705950, DSP rs2076295, and AKAP13 rs62025270 was conducted with commercial assays. The association between these SNPs and disease susceptibility, prognosis, or the cumulative incidence of AE was assessed.ResultsTERT rs2736100 and MUC5B rs35705950 were significantly associated with IPF risk, and DSP rs2076295 was linked to prognosis and the incidence of AE in IPF patients. TERT rs2736100 was significantly associated with prognosis in IPF patients and the incidence of AE in patients with unclassifiable IIPs. No individuals with the TT genotype of MUC5B rs35705950 were identified, and the proportion of those with the T allele was low (minor allele frequency of 0.005 in control subjects). In addition, no individuals with the minor allele (A) of AKAP13 rs62025270 were detected.ConclusionConsideration of genetic polymorphisms has the potential to facilitate prediction not only of prognosis but also of AE in individuals with IIPs, providing a foundation for the development of personalised management strategies based on genetic profiles.

Abstract Regardless of the high recurrence rate, copers manage the damage after a sprain. Copers do not experience ankle instability and continue their daily activities. However, it is unclear whether copers can use movement strategies similar to people without an ankle sprain. Identifying movement strategies can improve efficacy and prevent unwanted effects during training. Therefore, we aimed to compare the kinematics and muscular activities of the lower limbs during half squats and gait between copers and healthy controls. Ten copers (7 men, 3 women; age = 21.6 ± 1.1 years) and 10 controls (6 men, 4 women; age = 22.5 ± 2.8 years) were included in the cross-sectional study. We compared angles of the thigh, shank, and foot calculated from inertial measurement units and muscle activities of the biceps femoris long head, rectus femoris, gastrocnemius, and tibialis anterior between copers and controls during half squats and gait. For half squats, copers demonstrated thigh restriction with an effect size of 0.67–1.35, whereas we observed no significant differences in the shank and foot angles in the descending phase. Copers demonstrated less activity with an effect size of 0.61–1.58 in all four muscles. Copers showed lower activities of the rectus femoris and tibialis anterior during the same period of thigh restriction. For gait, there were no significant differences in lower limb angles and muscle activities between copers and controls. Copers may restrict thigh rotation unintentionally, leading to less muscle activity during half squats. Removing unconscious restrictions using sensor-based quantitative feedback can enable copers to obtain more efficient training. Our results suggest that assessing the limb movements of copers is important for efficient training, even if they do not experience instability to continue with their daily activities.

ABSTRACT Introduction Idiopathic pleuroparenchymal fibroelastosis (iPPFE) is a rare progressive interstitial lung disease characterized by upper-lobe fibrosis, severe restrictive impairment, and poor prognosis. Unlike idiopathic pulmonary fibrosis, in which acute exacerbations, chronic respiratory failure, and lung cancer are the major causes of death, iPPFE primarily leads to progressive respiratory failure, often complicated by malnutrition and recurrent pneumothorax. Despite growing recognition, its pathogenesis remains unclear and no effective treatments exist. Areas covered This review summarizes the epidemiological, clinical, radiological, and pathological features of iPPFE, as well as diagnostic and prognostic advancements. Key prognostic factors include weight loss, reduced forced vital capacity, hypercapnia, and lower-lobe interstitial pneumonia. Serum biomarkers (e.g. latent transforming growth factor-beta binding protein-4) are being explored for early detection and prognostic purposes. Although antifibrotic agents show limited efficacy, supportive care – pulmonary rehabilitation, nutritional management, and pneumothorax prevention – remains essential. Research on the fibroelastotic pathways may inform the development of future therapies. Expert opinion IPPFE remains a challenging disease. Therefore, early diagnosis and comprehensive management of this condition are crucial. Future research should refine prognostic models and explore novel therapeutic approaches for treating fibroelastosis. Lung transplantation may be an option for select patients. Further studies are required to optimize these outcomes.

A 70-year-old man who smoked was referred to our hospital because of progressive cough and dyspnea. Radiologic images showed ground-glass attenuation predominantly in the lower lung lobes. A surgical lung biopsy was performed, and a diagnosis of desquamative interstitial pneumonia (DIP) was made. The patient's symptoms improved with smoking cessation and steroid treatment, but the ground-glass attenuation did not completely resolve. At 10 years after the diagnosis, the fibrotic lesions deteriorated and treatment with nintedanib was subsequently initiated. Careful observation is needed in patients with DIP whose lung involvement does not completely improve with initial treatment.

Bilateral pneumothoraces are extremely rare. Patients with pleuroparenchymal fibroelastosis are frequently complicated by pneumothorax, which is sometimes bilateral. Pleuroparenchymal fibroelastosis should be considered a cause of bilateral pneumothoraces with apical fibrosis.