A pediatric case of productive cough caused by novel variants in DNAH9

We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs])

Scaffold and Edge Vascular Response Following Implantation of Everolimus-Eluting Bioresorbable Vascular Scaffold A 3-Year Serial Optical Coherence Tomography Study

AbstractObjectivesThis study sought to investigate the in-scaffold vascular response (SVR) and edge vascular response (EVR) after implantation of an everolimus-eluting bioresorbable scaffold (BRS) using serial optical coherence tomography (OCT) imaging.BackgroundAlthough studies using intravascular ultrasound have evaluated the EVR in metal stents and BRSs, there is a lack of OCT-based SVR and EVR assessment after BRS implantation.MethodsIn the ABSORB Cohort B (ABSORB Clinical Investigation, Cohort B) study, 23 patients (23 lesions) in Cohort B1 and 17 patients (18 lesions) in Cohort B2 underwent truly serial OCT examinations at 3 different time points (Cohort B1: post-procedure, 6 months, and 2 years; B2: post-procedure, 1 year, and 3 years) after implantation of an 18-mm scaffold. A frame-by-frame OCT analysis was performed at the 5-mm proximal, 5-mm distal edge, and 2-mm in-scaffold margins, whereas the middle 14-mm in-scaffold segment was analyzed at 1-mm intervals.ResultsThe in-scaffold mean luminal area significantly decreased from baseline to 6 months or 1 year (7.22 ± 1.24 mm2 vs. 6.05 ± 1.38 mm2 and 7.64 ± 1.19 mm2 vs. 5.72 ± 0.89 mm2, respectively; both p < 0.01), but remained unchanged from then onward. In Cohort B1, a significant increase in mean luminal area of the distal edge was observed (5.42 ± 1.81 mm2 vs. 5.58 ± 1.53 mm2; p < 0.01), whereas the mean luminal area of the proximal edge remained unchanged at 6 months. In Cohort B2, the mean luminal areas of the proximal and distal edges were significantly smaller than post-procedure measurements at 3 years. The mean luminal area loss at both edges was significantly less than the mean luminal area loss of the in-scaffold segment at both 6-month and 2-year follow-up in Cohort B1 or at 1 year and 3 years in Cohort B2.ConclusionsThis OCT-based serial EVR and SVR evaluation of the Absorb Bioresorbable Vascular Scaffold (Abbott Vascular, Santa Clara, California) showed less luminal loss at the edges than luminal loss within the scaffold. The luminal reduction of both edges is not a nosologic entity, but an EVR in continuity with the SVR, extending from the in-scaffold margin to both edges. (ABSORB Clinical Investigation, Cohort B [ABSORB B]; NCT00856856

Geographic disparity of pathophysiological coronary artery disease characteristics: Insights from ASET trials

The geographical disparity in the pathophysiological pattern of coronary artery disease (CAD) among patients undergoing percutaneous coronary intervention (PCI) is unknown. To elucidate the geographical variance in the pathophysiological characteristics of CAD. Physiological indices derived from angiography-based fractional flow reserve pullbacks from patients with chronic coronary syndrome enrolled in the ASET Japan (n = 206) and ASET Brazil (n = 201) studies, which shared the same eligibility criteria, were analysed. The pathophysiological patterns of CAD were characterised using Murray law-based quantitative flow ratio (μQFR)-derived indices acquired from pre-PCI angiograms. The diffuseness of CAD was defined by the μQFR pullback pressure gradient index. Significant functional stenoses pre-PCI (μQFR ≤0.80) were more frequent in ASET Japan compared to ASET Brazil (89.9% vs. 67.5%, p < 0.001), as were rates of a post-PCI μQFR <0.91 (22.1% vs. 12.9%, p = 0.013). In the multivariable analysis, pre-procedural μQFR and diffuse disease were independent factors for predicting a post-PCI μQFR <0.91, which contributed to the different rates of post-PCI μQFR ≥0.91 between the studies. Among vessels with a post-PCI μQFR <0.91, a consistent diffuse pattern of CAD pre- and post-PCI occurred in 78.3% and 76.7% of patients in ASET Japan and Brazil, respectively; only 6.3% (Japan) and 10.0% (Brazil) of vessels had a major residual gradient. Independent risk factors for diffuse disease were diabetes mellitus in ASET Japan, and age and male gender in Brazil. There was geographic disparity in pre-procedural angiography-based pathophysiological characteristics. The combined pre-procedural physiological assessment of vessel μQFR and diffuseness of CAD may potentially identify patients who will benefit most from PCI. [Abstract copyright: Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.

Rotationplasty with Vascular Reconstruction for Prosthetic Knee Joint Infection

Rotationplasty is used most often as a function-preserving salvage procedure after resection of sarcomas of the lower extremity; however, it is also used after infection of prosthetic knee joints. Conventional vascular management during rotationplasty is to preserve and coil major vessels, but recently, transection and reanastomosis of the major vessels has been widely performed. However, there has been little discussion regarding the optimal vascular management of rotationplasty after infection of prosthetic knee joints because rotationplasty is rarely performed for this indication. We reviewed four patients who had undergone resection of osteosarcomas of the femur, placement of a prosthetic knee joint, and rotationplasty with vascular reconstruction from 2010 to 2013. The mean interval between prosthetic joint replacement and rotationplasty was 10.4 years and the mean interval between the diagnosis of prosthesis infection and rotationplasty was 7.9 years. Rotationplasty was successful in all patients; however, in one patient, arterial thrombosis developed and necessitated urgent surgical removal and arterial reconstruction. All patients were able to walk independently with a prosthetic limb after rehabilitation. Although there is no consensus regarding the most appropriate method of vascular management during rotationplasty for revision of infected prosthetic joints, vascular transection and reanastomosis is a useful option