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The role of immunity in the pathogenesis of various pulmonary diseases, particularly interstitial lung diseases (ILDs), is being increasingly appreciated as mechanistic discoveries advance our knowledge in the field. Immune-mediated lung diseases demonstrate clinical and immunological heterogeneity and can be etiologically categorized into connective tissue disease (CTD)-associated, exposure-related, idiopathic, and other miscellaneous lung diseases including sarcoidosis, and post-lung transplant ILD. The immunopathogenesis of many of these diseases remains poorly defined and possibly involves either immune dysregulation, abnormal healing, chronic inflammation, or a combination of these, often in a background of genetic susceptibility. The heterogeneity and complex immunopathogenesis of ILDs complicate management, and thus a collaborative treatment team should work toward an individualized approach to address the unique needs of each patient. Current management of immune-mediated lung diseases is challenging; the choice of therapy is etiology-driven and includes corticosteroids, immunomodulatory drugs such as methotrexate, cyclophosphamide and mycophenolate mofetil, rituximab, or other measures such as discontinuation or avoidance of the inciting agent in exposure-related ILDs. Antifibrotic therapy is approved for some of the ILDs (e.g., idiopathic pulmonary fibrosis) and is being investigated for many others and has shown promising preliminary results. A dire need for advances in the management of immune-mediated lung disease persists in the absence of standardized management guidelines.

A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes. No other systemic symptoms or abnormalities were observed. Whole exome sequencing (WES) identified a compound heterozygous mutation in the

BackgroundStarting enzyme replacement therapy (ERT) before severe irreversible muscular damage occurs is important in infantile-onset Pompe disease (IOPD). This long-term follow-up study demonstrates our diagnostic and treatment strategies for IOPD and compares our clinical outcomes with those of other medical centres.MethodsIn this long-term follow-up study, we analysed the outcomes of very early ERT with premedication hydrocortisone in patients with IOPD. Out of 1 228 539 infants screened between 1 January 2010 and 28 February 2021, 33 newborns had confirmed IOPD in Taipei Veterans General Hospital. Twenty-six were regularly treated and monitored at Taipei Veterans General Hospital. Echocardiographic parameters, biomarkers, IgG antibodies against alglucosidase alpha, pulmonary function variables and developmental status were all assessed regularly over an average follow-up duration of 6.18±3.14 years. We compared the long-term treatment outcomes of our patients with those of other research groups.ResultsThe average age at ERT initiation was 9.75±3.17 days for patients with classic IOPD. The average of the latest antialglucosidase alpha IgG titre was 669.23±1159.23. All enrolled patients had normal heart sizes, motor milestones, cognitive function and pulmonary function that were near-normal to normal. Compared with patients in other studies, our patients had better outcomes in all aspects.ConclusionVery early ERT using our rapid diagnostic and treatment strategy enabled our patients with IOPD to have better outcomes than patients in other medical centres.

This study investigated the impact of the type of catheter irrigant used during delivery of radiofrequency ablation.The use of half-normal saline (HNS) as an irrigant has been suggested as a method for increasing ablation lesion size but has not been rigorously studied in the beating heart or the use of a low-flow irrigation catheter.Sixteen swine underwent left ventricular mapping and ablation using either normal saline (NS) (group 1: n = 9) or half-normal saline (HNS) (group 2: n = 7). All lesions were delivered using identical parameters (40 W with 10-second ramp, 30-second duration, 15 ml/min flow, and 8- to14-g target contact force). An occurrence of steam pop, catheter char, or thrombus was assessed using intracardiac echocardiography and catheter inspection following each application. Lesion depth, width, and area were measured using electronic calibers.A total of 109 lesions were delivered in group 1 and 77 in group 2. There were significantly more steam pops in group 2 (32 of 77 [42%] vs. 24 of 109 [22%], respectively). The frequencies of catheter tip char were similar (group 1: 9 of 109 [8%] vs. group 2: 10 of 77 [13%]; p = 0.29). Lesion depths, widths, and areas also were similar in both groups.The use of an HNS irrigant using a low-flow open irrigated ablation catheter platform results in more tissue heating due to higher radiofrequency current delivery directed to tissue, but this can lead to higher rate of steam pops. In this in vivo porcine beating-heart model, the use of HNS does not appear to significantly increase lesion size in normal myocardium despite evidence of increased radiofrequency heating.