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European Journal of Pediatrics Jun 2024Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic stenosis or/and stenosis...
UNLABELLED
Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic stenosis or/and stenosis of the branches of the pulmonary artery. We aim to develop and optimize accurate models of facial recognition to assist in the diagnosis of WBS, and to evaluate their effectiveness by using both five-fold cross-validation and an external test set. We used a total of 954 images from 135 patients with WBS, 124 patients suffering from other genetic disorders, and 183 healthy children. The training set comprised 852 images of 104 WBS cases, 91 cases of other genetic disorders, and 145 healthy children from September 2017 to December 2021 at the Guangdong Provincial People's Hospital. We constructed six binary classification models of facial recognition for WBS by using EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN. Transfer learning was used to pre-train the models, and each model was modified with a variable cosine learning rate. Each model was first evaluated by using five-fold cross-validation and then assessed on the external test set. The latter contained 102 images of 31 children suffering from WBS, 33 children with other genetic disorders, and 38 healthy children. To compare the capabilities of these models of recognition with those of human experts in terms of identifying cases of WBS, we recruited two pediatricians, a pediatric cardiologist, and a pediatric geneticist to identify the WBS patients based solely on their facial images. We constructed six models of facial recognition for diagnosing WBS using EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN. The model based on VGG-19BN achieved the best performance in terms of five-fold cross-validation, with an accuracy of 93.74% ± 3.18%, precision of 94.93% ± 4.53%, specificity of 96.10% ± 4.30%, and F1 score of 91.65% ± 4.28%, while the VGG-16BN model achieved the highest recall value of 91.63% ± 5.96%. The VGG-19BN model also achieved the best performance on the external test set, with an accuracy of 95.10%, precision of 100%, recall of 83.87%, specificity of 93.42%, and F1 score of 91.23%. The best performance by human experts on the external test set yielded values of accuracy, precision, recall, specificity, and F1 scores of 77.45%, 60.53%, 77.42%, 83.10%, and 66.67%, respectively. The F1 score of each human expert was lower than those of the EfficientNet-b3 (84.21%), ResNet-50 (74.51%), VGG-16 (85.71%), VGG-16BN (85.71%), VGG-19 (83.02%), and VGG-19BN (91.23%) models.
CONCLUSION
The results showed that facial recognition technology can be used to accurately diagnose patients with WBS. Facial recognition models based on VGG-19BN can play a crucial role in its clinical diagnosis. Their performance can be improved by expanding the size of the training dataset, optimizing the CNN architectures applied, and modifying them with a variable cosine learning rate.
WHAT IS KNOWN
• The facial gestalt of WBS, often described as "elfin," includes a broad forehead, periorbital puffiness, a flat nasal bridge, full cheeks, and a small chin. • Recent studies have demonstrated the potential of deep convolutional neural networks for facial recognition as a diagnostic tool for WBS.
WHAT IS NEW
• This study develops six models of facial recognition, EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN, to improve WBS diagnosis. • The VGG-19BN model achieved the best performance, with an accuracy of 95.10% and specificity of 93.42%. The facial recognition model based on VGG-19BN can play a crucial role in the clinical diagnosis of WBS.
PubMed: 38871980
DOI: 10.1007/s00431-024-05646-9 -
Clinical Nuclear Medicine Jun 2024A 58-year-old man with resected liposarcoma exhibited persistent irregular interlobular septal thickening of lung on CT concerning lymphangitic metastasis. FDG PET/CT...
A 58-year-old man with resected liposarcoma exhibited persistent irregular interlobular septal thickening of lung on CT concerning lymphangitic metastasis. FDG PET/CT was positive in these foci. There was a narrowing of the pulmonary veins, which had not been seen on the imaging conducted prior to radiofrequency ablation therapy for atrial fibrillation. Lung perfusion scanning demonstrated more extensive hypoperfusion. This case highlights the diagnostic pitfalls of interstitial thickening of the lung in cancer patients. Meticulous history review and nuclear imaging helped distinguish the postablation pulmonary venous stenosis from metastatic spread to the lung interstitium.
PubMed: 38861420
DOI: 10.1097/RLU.0000000000005294 -
Radiotherapy and Oncology : Journal of... Jun 2024Use of stereotactic ablative radiotherapy (SABR) for central lung tumors can result in up to a 35% incidence of late pulmonary toxicity. We evaluated an automated...
INTRODUCTION
Use of stereotactic ablative radiotherapy (SABR) for central lung tumors can result in up to a 35% incidence of late pulmonary toxicity. We evaluated an automated scoring method to quantify post-SABR bronchial changes by using artificial intelligence (AI)-based airway segmentation.
MATERIALS AND METHODS
Central lung SABR patients treated at Amsterdam UMC (AUMC, internal reference dataset) and Peter MacCallum Cancer Centre (PMCC, external validation dataset) were identified. Patients were eligible if they had pre- and post-SABR CT scans with ≤ 1 mm resolution. The first step of the automated scoring method involved AI-based airway auto-segmentation using MEDPSeg, an end-to-end deep learning-based model. The Vascular Modeling Toolkit in 3D Slicer was then used to extract a centerline curve through the auto-segmented airway lumen, and cross-sectional measurements were computed along each bronchus for all CT scans. For AUMC patients, airway stenosis/occlusion was evaluated by both visual assessment and automated scoring. Only the automated method was applied to the PMCC dataset.
RESULTS
Study patients comprised 26 from AUMC, and 33 from PMCC. Visual scoring identified stenosis/occlusion in 8 AUMC patients (31 %), most frequently in the segmental bronchi. After airway auto-segmentation, minor manual edits were needed in 9 % of patients. Segmentation for a single scan averaged 83sec (range 73-136). Automated scoring nearly doubled detected airway stenosis/occlusion (n = 15, 58 %), and allowed for earlier detection in 5/8 patients who had also visually scored changes. Estimated rates were 48 % and 66 % at 1- and 2-years, respectively, for the internal dataset. The automated detection rate was 52 % in the external dataset, with 1- and 2-year risks of 56 % and 61 %, respectively.
CONCLUSION
An AI-based automated scoring method allows for detection of more bronchial stenosis/occlusion after lung SABR, and at an earlier time-point. This tool can facilitate studies to determine early airway changes and establish more reliable airway tolerance doses.
PubMed: 38857700
DOI: 10.1016/j.radonc.2024.110376 -
International Journal of Cardiology.... Aug 2024To investigate the change in severity of mitral regurgitation (MR) after transcatheter aortic valve replacement (TAVR) and its effect on 5-year mortality.
OBJECTIVES
To investigate the change in severity of mitral regurgitation (MR) after transcatheter aortic valve replacement (TAVR) and its effect on 5-year mortality.
BACKGROUND
There is inconsistency in literature on pre-existing MR influencing long-term survival in patients who undergo TAVR.
METHODS
Patients who underwent TAVR at the University Hospital Schleswig-Holstein (USKH) Campus Kiel between March 2009 and February 2018 have been enrolled. Echocardiography determined the degree of MR before and within 7 days after TAVR. Patients were divided into two groups according to their MR at baseline: MR-grade ≤ 2 (non-relevant MR, nr-MR) and baseline MR-grade > 2 (relevant MR, r-MR). Primary endpoint was a composite of MR baseline influence on mortality and MR reduction and its' impact on mortality.
RESULTS
A total of 820 patients (642 nr-MR and 178 in r-MR) were included in this study. Of these, 167 patients showed an improvement in MR-grade. Thereof 106 (63.5 %) referred to r-MR with a significant decrease in mean MR-grade (p < 0.01). Systolic pulmonary artery pressure (sPAP) (p < 0.01) and NT-proBNP (p = 0.03) decreased in patients who had an improvement. There was no significant difference in 5-year mortality for MR at baseline (p = 0.35) or reduction in mortality for r-MR patients with an MR improvement compared to patients with worsening or equal MR status (p = 0.80).
CONCLUSION
In patients undergoing TAVR, 63.5 % of patients with MR-grade ≥ 2 at baseline showed an improvement of grade of MR after TAVR with reduction of their sPAP and NT-proBNP values but there was no significant difference in mortality.
PubMed: 38854408
DOI: 10.1016/j.ijcha.2024.101416 -
International Journal of Cardiology Jun 2024Left ventricular diastolic dysfunction indicated by elevated pulmonary capillary wedge pressure (ePCWP) may worsen cardiorespiratory status in bronchopulmonary dysplasia...
BACKGROUND
Left ventricular diastolic dysfunction indicated by elevated pulmonary capillary wedge pressure (ePCWP) may worsen cardiorespiratory status in bronchopulmonary dysplasia (BPD), but the scope of ePCWP by cardiac catheterization is not well described.
METHODS
This single-center retrospective cohort study included infants with BPD without congenital heart disease, significant intracardiac shunts, or pulmonary vein stenosis who underwent cardiac catheterization from 2010 to 2021. ePCWP was defined as >10 mmHg. Quantitative measures of ventricular systolic and diastolic function were performed on existing echocardiograms. Patients with and without ePCWP were compared using the Chi-squared or Wilcoxon rank-sum tests. Associations between catheterization hemodynamics and echocardiographic parameters were assessed by simple linear regression.
RESULTS
Seventy-one infants (93% Grade 2 or 3 BPD) met inclusion criteria, and 30 (42%) had ePCWP. Patients with ePCWP were older at catheterization (6.7 vs. 4.5 months, p < 0.001), more commonly underwent tracheostomy (66.7% vs. 29.3%, p = 0.003), and had higher mean systemic blood pressure [64.5 (56.0, 75.0) vs. 47.0 (43.0, 55.0) mm Hg, p < 0.001], higher systemic vascular resistance [11.9 (10.4, 15.6) vs. 8.7 (6.7, 11.2) WU*m, p < 0.001), and lower cardiac index [3.9 (3.8, 4.9) vs. 4.7 (4.0, 6.3) L/min/m, p = 0.03] at catheterization. Mean pulmonary artery pressure, pulmonary vascular resistance, and mortality were similar between the groups. Echocardiographic indices of left ventricular diastolic dysfunction did not correlate with PCWP.
CONCLUSIONS
ePCWP was common in infants with severe BPD who underwent cardiac catheterization in this cohort. The association between ePCWP and higher systemic blood pressure supports further study of afterload reduction in this population.
PubMed: 38851539
DOI: 10.1016/j.ijcard.2024.132246 -
JBJS Case Connector Apr 2024A 37-year-old man American Society of Anesthesiologists grade 1 patient with lumbar canal stenosis at the L4-L5 level underwent endoscopic decompression. Toward the end...
CASE
A 37-year-old man American Society of Anesthesiologists grade 1 patient with lumbar canal stenosis at the L4-L5 level underwent endoscopic decompression. Toward the end of the procedure, the patient developed sudden-onset bradycardia, followed by ventricular arrhythmia and acute pulmonary edema. The patient was successfully managed with resuscitation and supportive management and recovered uneventfully thereafter. A diagnosis of perioperative stress cardiomyopathy was subsequently made after evaluation of the patient.
CONCLUSION
The possibility of takotsubo cardiomyopathy should be considered in cases of acute perioperative cardiac decompensation and pulmonary edema in patients undergoing spinal surgery.
Topics: Humans; Takotsubo Cardiomyopathy; Adult; Male; Spinal Stenosis; Endoscopy; Lumbar Vertebrae; Decompression, Surgical; Intraoperative Complications
PubMed: 38848407
DOI: 10.2106/JBJS.CC.24.00031 -
European Journal of Case Reports in... 2024Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include...
BACKGROUND
Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. .
CASE 1
A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms.
CASE 2
A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13-14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management.
CONCLUSION
PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients.
LEARNING POINTS
Alagille syndrome (ALGS) is a complex multisystem disorder involving the liver, heart, skeleton, face, and eyes. Cardiovascular involvement occurs in up to 95% of the patients.Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF).A parachute mitral valve (PMV) presenting as mitral stenosis and mid-aortic syndrome is not commonly described anomalies in association with ALGS. Here, we present such rare cases.
PubMed: 38846669
DOI: 10.12890/2024_004545 -
European Heart Journal. Case Reports Jun 2024Iatrogenic aortic valve injury during cardiovascular catheterization interventions is extremely rare. Severe aortic regurgitation that ensues can be catastrophic and the...
BACKGROUND
Iatrogenic aortic valve injury during cardiovascular catheterization interventions is extremely rare. Severe aortic regurgitation that ensues can be catastrophic and the management is typically with surgical valve replacement or repair. Percutaneous management of native pure aortic regurgitation is difficult due to anatomical challenges and the limitations of current transcatheter heart valve technology to anchor in the absence of leaflet or annular calcification.
CASE SUMMARY
An 82-year-old female underwent rotational atherectomy (RA) for a severely calcified stenosis of the left anterior descending artery. The patient was discharged well following placement of two drug eluting stents. She represented to hospital 7 days later with acute pulmonary oedema. Bedside transthoracic echocardiography demonstrated new, severe AR with preserved left ventricular size and function. Review of the prior percutaneous coronary intervention revealed significant trauma to the aortic valve during RA, with contrast seen refluxing into the LV during diastole, evolving throughout the procedure. Given the patient was not an operative candidate, an oversized transcatheter aortic valve was successfully implanted. In the post-operative setting, the patient suffered a stroke. Extensive hypoattenuated leaflet thickening (HALT) and thrombus was seen on dedicated 4D CT imaging. She made full neurological recovery and valve function returned to normal following a period of anticoagulation.
CONCLUSION
Although iatrogenic aortic valve laceration is rare, this case highlights several important learning points including the importance of good guide catheter support during RA; the feasibility of Transcatheter Aortic Valve Replacement for pure native AR; and the detection and management of HALT.
PubMed: 38845809
DOI: 10.1093/ehjcr/ytae226 -
European Heart Journal. Case Reports Jun 2024The coexistence of rheumatic heart disease (RHD) and pulmonary arteriovenous malformation (PAVM) is a rare clinical scenario that poses diagnostic and therapeutic...
BACKGROUND
The coexistence of rheumatic heart disease (RHD) and pulmonary arteriovenous malformation (PAVM) is a rare clinical scenario that poses diagnostic and therapeutic challenges. This case report explores the clinical presentation, diagnostic journey, and multidisciplinary management of a patient presenting with both conditions.
CASE SUMMARY
A 47-year-old female with a history of RHD presented with symptoms of dyspnoea on exertion and cyanosis, suggestive of both cardiac involvement and pulmonary involvement. Subsequent investigations involving imaging, echocardiography, and invasive pulmonary angiography revealed the coexistence of RHD and multiple PAVM in the patient's left lower lobe of the lung. The patient underwent a tailored treatment plan, initially involving percutaneous mitral balloon valvuloplasty for RHD, followed by a staged procedure of transcatheter PAVM closure with Amplatzer™ Vascular Plug II performed 1 month later. Her saturation normalized following the intervention. The patient's progress was monitored closely, with adjustments made to the treatment plan based on evolving clinical scenarios. The patient remained well in short-term follow-up.
DISCUSSION
This case highlights the complexity of managing patients having two diverse conditions RHD and PAVM coexisting together, thus emphasizing the importance of a multidisciplinary approach. The unique intersection of cardiac and pulmonary pathologies necessitates careful consideration of diagnostic nuances and tailored treatment strategies. Lessons learned from this case offer valuable insights for clinicians encountering similar scenarios and underscore the significance of individualized, patient-centred care in optimizing outcomes for those with dual pathologies.
PubMed: 38845808
DOI: 10.1093/ehjcr/ytae239 -
Pediatric Cardiology Jun 2024Pulmonary vein stenosis (PVS) is a rare, serious, and progressive disease in the pediatric population. Evaluation is complex and involves multimodality imaging....
Pulmonary vein stenosis (PVS) is a rare, serious, and progressive disease in the pediatric population. Evaluation is complex and involves multimodality imaging. Diagnosis is important as early treatment to prevent progressive pulmonary hypertension and right ventricular dysfunction is essential. Adult studies have shown good correlation between various imaging modalities; however, there are limited data in children. This is a single-center retrospective pilot study to determine the reliability of measurement of pulmonary vein stenosis and pulmonary hypertension across different imaging modalities-computed tomography angiography (CTA), echocardiography (echo), lung perfusion scan (LPS), and cardiac catheterization (cath). PVS was defined as > 2 mmHg by echo and cath and/or 50% reduction in diameter by CTA. Patients had to have an echo, CTA and cath performed within a 1-month timeframe of one another to be included in the study, with LPS data included if testing was completed at initial evaluation. Fifteen total patients were enrolled; 87% were categorized as primary PVS; a condition not directly related to direct injury or prior surgical intervention. Twenty-seven total stenotic pulmonary veins were identified (mean 1.8, range 1-4). CTA had a slightly better agreement with cath than echo in identifying PVS in different vein locations except in the LLPV. Additionally, echo and CTA had excellent sensitivity (91%) and specificity (100%) compared to cath for diagnosis of PH. We conclude that non-invasive imaging of echo and CTA has an acceptable correlation to cardiac catheterization for screening and initial evaluation of PVS and PH, as directly related to PVS, in pediatrics.
PubMed: 38842557
DOI: 10.1007/s00246-024-03531-8