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Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Here, we review the history of FOS and the analyses and publications disseminated from the registry, and we discuss the contributions FOS studies have made in understanding FD. Results FOS was initiated in April 2001 and, as of January 2021, 4484 patients with a confirmed diagnosis and patient informed consent have been enrolled from 144 centers across 26 countries. Data from FOS have been published in nearly 60 manuscripts on a wide variety of topics relevant to FD. Analyses of FOS data have investigated the long-term effectiveness and safety of enzyme replacement therapy (ERT) with agalsidase alfa and its effects on morbidity and mortality, as well as the benefits of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. Based on analyses of FOS data, ERT with agalsidase alfa has also been shown to improve additional signs and symptoms of FD experienced by patients. FOS data analyses have provided a better understanding of the natural history of FD and the specific populations of women, children, and the elderly, and have provided practical tools for the study of FD. FOS has also provided methodology and criteria for assessing disease severity which contributed to the continuous development of medical practice in FD and has largely improved our understanding of the challenges and needs of long-term data collection in rare diseases, aiding in future rare disease real-world evidence studies. Conclusion FOS over the last 20 years has substantially increased the scientific knowledge around improved patient management of FD and continues to expand our understanding of this rare disease.

Mortality remains high, and the burden on patients, caregivers, and health systems is immense; as such, ILD remains a focus of intensive research and clinical innovation. A “one-size-fits-all” strategy is not adequate; individualized management anchored in disease phenotyping and patients’ personal values should be the standard of care. Conflicts of Interest The authors declare no conflict of interest.

Interstitial lung diseases (ILDs) represent a heterogenous group of lung disorders marked by inflammation and/or fibrosis of the lung parenchyma, often leading to progressive shortness of breath and end-stage respiratory failure. In the U.S., ILDs affect approximately 650,000 individuals and cause approximately 25,000–30,000 deaths annually. Lung transplantation (LTx) offers definitive treatment for advanced ILD, with improved survival attributed to advancements in immunosuppression, organ preservation, surgical techniques, and postoperative care. However, disease recurrence in transplanted lungs remains a significant concern. Understanding the risk factors and mechanisms underlying recurrence is critical for refining recipient selection and improving outcomes. This review examines ILD recurrence post LTx and its implications for lung transplantation success.

ObjectivesThe prevalence of Anderson–Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.Design, Setting and PatientsA European multicentre cross-sectional study involving 13 referral centres. Inclusion criteria for the study were: men aged at least 35 years and women aged at least 40 years with unexplained LVH (maximum left ventricular wall thickness ≥1.5 cm). All patients were screened using a denaturing high-performance liquid chromatography protocol for rapid mutation screening of the α-galactosidase A (α-Gal A) gene and, if a sequence variant was found, direct sequencing was performed. 1386 patients (63.9% men, mean age 57.9±12.0 years) were enrolled in the study.ResultsSeven (0.5%) patients (age 57.4±9.0 years (45–72); three (43%) men) had pathogenic α-galactosidase A mutations. Polymorphisms were identified in 283 patients (20.4%). Maximal left ventricular wall thickness in patients carrying a disease-causing mutation was 18±2 mm (range 15–22); four patients had concentric LVH and the remainder had asymmetric septal hypertrophy.ConclusionsThe prevalence of AFD gene mutations in a large, consecutive cohort of European patients with unexplained LVH is 0.5%.

This brief imaging case report highlights a successful bridge to lung transplantation after an investigational endobronchial coil-assisted lung volume reduction procedure.

BACKGROUND: Systemic corticosteroids have been shown to improve outcomes in severe coronavirus disease 2019 (COVID-19) pneumonia; however, their role in post-COVID-19 persistent lung abnormalities is not well defined. Here, we describe our experience with corticosteroids in patients with persistent lung infiltrates following COVID-19 infection. RESEARCH QUESTION: What is the efficacy of systemic corticosteroids in improving lung function and radiological abnormalities in patients following COVID-19 pneumonia? STUDY DESIGN AND METHODS: This is a single-center retrospective study evaluating patients with persistent respiratory symptoms and abnormal chest computed tomography findings. Patients were divided into two groups based on treatment with corticosteroids: \"steroid group\" and \"nonsteroid group.\" Clinical data were collected from the electronic medical records. RESULTS: Between March 2020 and December 2021, 227 patients were seen in the post-COVID-19 pulmonary clinic, of which 75 were included in this study. The mean age was 56 years, 63% were female, and 75% were white. The main physiologic deficit was reduced Diffusing capacity of the Lungs for Carbon Monoxide (DLCO) at 72% (±22). On chest imaging, the most common findings were ground-glass opacities (91%) and consolidation (29%). Thirty patients received corticosteroid (steroid group) and 45 did not (nonsteroid group). Patients treated with corticosteroids had lower DLCO (DLCO [%]: steroid group 63 ± 17, nonsteroid group 78 ± 23; P = 0.005) and all had ground-glass opacities on imaging compared to 84% in the nonsteroid group (P = 0.04). At follow-up, patients in the steroid group (n = 16) had a significant improvement in spirometry and DLCO. In addition, there was a significant improvement with resolution of ground-glass opacities in both the groups (P < 0.05). CONCLUSION: The use of systemic corticosteroids in patients with persistent respiratory symptoms and radiological abnormalities post-COVID-19 was associated with significant improvement in pulmonary function testing and imaging. Prospective studies are needed to confirm whether these findings are the effect of corticosteroid therapy or disease evolution over time.

Abstract Objectives Current knowledge of the pulmonary pathology of coronavirus disease 2019 (COVID-19) is based largely on postmortem studies. In most, the interval between disease onset and death is relatively short (<1 month). Information regarding lung pathology in patients who survive for longer periods is scant. We describe the pathology in three patients with severe COVID-19 who underwent antemortem examination of lung tissue at least 8 weeks after initial diagnosis. Methods We conducted a retrospective case series. Results The first patient developed acute respiratory failure and was started on extracorporeal membrane oxygenation (ECMO) on day 21, with subsequent hemothorax. Debridement (day 38) showed extensive lung infarction with diffuse alveolar damage and Candida overgrowth. The second patient developed acute respiratory failure requiring mechanical ventilation that did not improve despite ECMO. Surgical lung biopsy on day 74 showed diffuse interstitial fibrosis with focal microscopic honeycomb change. The third patient also required ECMO and underwent bilateral lung transplantation on day 126. The explanted lungs showed diffuse interstitial fibrosis with focal microscopic honeycomb change. Conclusions This series provides histologic confirmation that complications of COVID-19 after 8 weeks to 4 months of severe disease include lung infarction and diffuse interstitial fibrosis.

- Small lung biopsies (core needle biopsies and transbronchial biopsies) are the most common-and often the first-lung sample obtained when a radiologic abnormality is detected and tissue diagnosis is required. When a neoplastic diagnosis cannot be made but pathologic abnormalities are present, it is useful for pathologists to have a list (\"menu\") of specific nonneoplastic diagnoses that can be made in these samples. - To provide surgical pathologists and pathology trainees with menus of nonneoplastic entities that can be diagnosed in small lung biopsies, and to briefly describe and illustrate some of these entities as they appear in small lung biopsies. - Published literature and the authors' experience with small lung biopsies for diagnosis of nonneoplastic lung diseases. - Although sampling error imposes some limitations, core needle biopsies and transbronchial lung biopsies can contribute to the diagnosis of a variety of nonneoplastic lung diseases and reduce the need for invasive surgical intervention.

The era of bronchoscopy began with Gustav Killian in 1876 when he removed a pork bone from a farmer’s airway, using an esophagoscope. Prompted by this accomplishment, Chevalier Jackson, an American otolaryngologist, laid the platform for the modern-day rigid bronchoscope in the early twentieth century. In 1967 Shigeto Ikeda revolutionized the field of bronchoscopy by his innovation of the fiberoptic bronchoscope. Today, bronchoscopy and interventional pulmonology have become an integral part of pulmonary medicine and an established subspecialty. Numerous innovators have furthered the horizons of this technology. In the early 1980s Ko-Pen Wang introduced transbronchial needle aspiration to sample mediastinal lesions while Jean-François Dumon developed methods for laser photoresection and for placing stents thorough the bronchoscope. More recently, application of endobronchial ultrasound and electromagnetic navigation tools has further galvanized the role of bronchoscopy. The success of lung transplantation also belongs in part to flexible bronchoscopy. Today, researchers are looking into treating emphysema as well as asthma, using bronchoscopic techniques. We believe 2015 is a good time to look back on the history of bronchoscopy and to recognize its major milestones. This article attempts to connect the historical dots in this field of research, with the hope that our effort helps future generations improve the welfare of patients with lung ailments.