Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.

BACKGROUND: Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome are common types of genetic syndromes (GSs) characterized by distinct facial features, pulmonary stenosis, and delayed growth. In clinical practice, differentiating these three GSs remains a challenge. Facial gestalts serve as a diagnostic tool for recognizing Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome. Pretrained foundation models (PFMs) can be considered the foundation for small-scale tasks. By pretraining with a foundation model, we propose facial recognition models for identifying these syndromes. METHODS: A total of 3297 (n = 1666) facial photos were obtained from children diagnosed with Williams-Beuren syndrome (n = 174), Noonan syndrome (n = 235), and Alagille syndrome (n = 51), and from children without GSs (n = 1206). The photos were randomly divided into five subsets, with each syndrome and non-GS equally and randomly distributed in each subset. The proportion of the training set and the test set was 4:1. The ResNet-100 architecture was employed as the backbone model. By pretraining with a foundation model, we constructed two face recognition models: one utilizing the ArcFace loss function, and the other employing the CosFace loss function. Additionally, we developed two models using the same architecture and loss function but without pretraining. The accuracy, precision, recall, and F1 score of each model were evaluated. Finally, we compared the performance of the facial recognition models to that of five pediatricians. RESULTS: Among the four models, ResNet-100 with a PFM and CosFace loss function achieved the best accuracy (84.8%). Of the same loss function, the performance of the PFMs significantly improved (from 78.5% to 84.5% for the ArcFace loss function, and from 79.8% to 84.8% for the CosFace loss function). With and without the PFM, the performance of the CosFace loss function models was similar to that of the ArcFace loss function models (79.8% vs 78.5% without PFM; 84.8% vs 84.5% with PFM). Among the five pediatricians, the highest accuracy (0.700) was achieved by the senior-most pediatrician with genetics training. The accuracy and F1 scores of the pediatricians were generally lower than those of the models. CONCLUSIONS: A facial recognition-based model has the potential to improve the identification of three common GSs with pulmonary stenosis. PFMs might be valuable for building screening models for facial recognition. Key messages What is already known on this topic:  Early identification of genetic syndromes (GSs) is crucial for the management and prognosis of children with pulmonary stenosis (PS). Facial phenotyping with convolutional neural networks (CNNs) often requires large-scale training data, limiting its usefulness for GSs. What this study adds:  We successfully built multi-classification models based on face recognition using a CNN to accurately identify three common PS-associated GSs. ResNet-100 with a pretrained foundation model (PFM) and CosFace loss function achieved the best accuracy (84.8%). Pretrained with the foundation model, the performance of the models significantly improved, although the impact of the type of loss function appeared to be minimal. How this study might affect research, practice, or policy:  A facial recognition-based model has the potential to improve the identification of GSs in children with PS. The PFM might be valuable for building identification models for facial detection.

Discrepancy between arterial oxygen saturation and pulse oximetry measurement in a Chinese pediatric patient cohort.

Background: Increasing evidence suggest a racial bias in pulse oximetry measurement, but this was under investigated in Asian pediatric populations. Methods: Via the Pediatric Intensive Care database, this retrospective study included pediatric patient records of arterial oxygen saturation (SaO2) and oxygen saturation on pulse oximetry (SpO2) measured within 10 min. Discrepancy was examined, and potential predictors of occult hypoxemia (defined as SaO2 <88% with the paired SpO2 ≥92%) as well as its association with outcomes were explored by logistic regression. Results: A total of 390 patients were included with 454 pairs of SaO2-SpO2 readings. The study population consisted of Han Chinese (99.0%) and 43.6% were female. Occult hypoxemia was observed in 20.0% of the patients, with a mean SaO2 of 71.4 ± 15.8%. Potential predictors of occult hypoxemia included female, being first admitted to cardiac ICU, congenital heart disease, increased heart rate, while patients with prior surgery records were less likely to experience occult hypoxemia. Patients with occult hypoxemia had numerically higher in-ICU mortality (16.7% versus 10.9%) and in-hospital mortality (17.9% versus 10.9%), but the associations were not statistically significant. Conclusions: There was a substantial proportion of hypoxemia that was not detected by pulse oximetry in the Chinese pediatric patients, which might be predicted by several characteristics and seemed to associate with mortality.

Transcatheter closure of patent foramen ovale in Chinese patients with paradoxical embolism. -Immediate results and long-term follow-up-.

BACKGROUND: The aim of the present study was to assess immediate and long-term clinical outcome of Chinese patent foramen ovale (PFO) patients with paradoxical embolism who underwent transcatheter PFO closure. METHODS AND RESULTS: One hundred and ninety-two patients underwent transcatheter PFO closure for secondary prevention of thromboembolic events (TE). During the procedure, 7 patients had frequent atrial premature beats or transient atrial tachycardia in implantation and 1 patient had a transitory ST-elevation in leads II, III and aV(F). These complications converted spontaneously after a few minutes. No cases of procedure-related death or TE were observed during hospitalization. Minor adverse events, including chest discomfort (11%), palpitations (25%) and dyspnea (1%) were reported within 1 month of the procedure. These symptoms had disappeared in most patients by 6-month follow-up. One patient had a new occurrence of migraine at 27 months after the implantation. Within a median follow-up of 49 ± 8 months, no residual shunt of the atrial level was identified and correct positioning of the device was confirmed on transthoracic echocardiography in all patients. No death related to any cause or recurrent TE were recorded. CONCLUSIONS: Transcatheter PFO closure is a minimally invasive procedure with a high success rate, low complication rate and an excellent long-term outcome, and appears to be a wise approach for secondary prevention of recurrent embolic events in symptomatic patients.

[Immediately effects of inhaled aerosolised iloprost in adult patients with severe pulmonary hypertension secondary to congenital heart diseases].

OBJECTIVE: To investigate the immediately effects of inhaled aerosolized iloprost in adult patients with severe pulmonary arterial hypertension (PAH) secondary to congenital heart diseases (CHD). METHODS: Adult patients with severe PAH secondary to CHD (n = 165) were included in this study. Right heart catheterization was performed, Pulmonary and systemic blood flow, the oxygen consumption VO(2) (ml/min) were calculated using Fick's principle. Pulmonary vascular resistances (PVR) were calculated with standard formulas and indexed to body surface area. Hemodynamic parameters were measured before and after iloprost inhalation (20 µg). RESULTS: Post iloprost inhalation, heart rate, mean aortic pressure, pulmonary systolic pressure to aortic systolic pressure ratio all remained un changed (P > 0.05), while pulmonary artery pressure (PAP) were significantly reduced and Qp significantly increased from (7.2 ± 4.8) L/min to (9.9 ± 7.2) L/min (P < 0.01), PVR was also significantly reduced from (13.4 ± 8.7) Wood units to (9.5 ± 6.6) Wood units (P < 0.01), and left-to-right shunt volume increased from (3.2 ± 4.4) L/min to (5.5 ± 7.0) L/min (P < 0.01) and right-to-left shunt volume decreased from (1.0 ± 1.0) L/min to (0.7 ± 0.7) L/min (P < 0.01). Subgroup analysis showed that adult patients with patent ductus arteriosus and/or ventricular septal defects are more likely to develop severe pulmonary arterial hypertension or Eisenmenger syndrome than patients with atrial septal defects. CONCLUSIONS: Inhaled Aerosolised iloprost use is effective and safe for adult patients with severe pulmonary arterial hypertension secondary to congenital heart diseases.

[Quantitative assessment of pulmonary blood flow by echocardiography in patients with congenital heart defect].

OBJECTIVE: To explore the possibility and reliability of echocardiography in quantitative evaluation of pulmonary blood flow in patients with congenital heart disease (CHD). METHODS: Sixty-four patients with left to right shunt congenital atrial septal defect (ASD) underwent echocardiographic examinations of the right upper and lower pulmonary vein blood flow spectrum in the four-chamber face, and the right upper pulmonary vein flow velocity time integral (VTIrupv) and right inferior pulmonary venous flow velocity time integral (VTIrlpv) were calculated according to the heart rate. The VTIrupv and VTIrlpv were compared with the pulmonary blood flow (Qp) calculated by Fick method with right heart catheterization. RESULTS: There was a high correlation between the right lung vein flow velocity time integral measured by the catheter of transthoracic echocardiography and Qp. CONCLUSION: The pulmonary venous flow spectrum measured by echocardiography can be informative of the pulmonary blood flow in patients with CHD. Echocardiography may serve as a potential noninvasive technique to evaluate pulmonary blood flow in these patients.

Transcatheter closure of patent foramen ovale with the Spider patent foramen ovale occluder: a prospective, single-center trial.

BACKGROUND: Transcatheter closure of patent foramen ovale (PFO) is a promising alternative to surgical closure or anticoagulation therapy to prevent paradoxical embolic events in patients with PFO. Several different devices have been used for transcatheter PFO closure. The aim of the present study was to evaluate the safety and feasibility for closure of PFO with a new PFO occluder, the Spider PFO occluder. METHODS: The device was implanted in the PFO patients under fluoroscopy and transthoracic echocardiography (TTE) using a 10 French delivery sheath employing a femoral vein approach. Aspirin was administered at 100 mg/d for six months after occlusion. The clinical and echocardiographic follow-up of patients were performed at the 24th hour, 1st month, 3rd month, 6th month, and 12th month after occlusion, and yearly thereafter. RESULTS: The device was implanted successfully in all 55 patients. No major complications occurred during the perioperative period, such as thromboembolism, occluder dislodgement, infection or myocardial infarction. No residual shunt of the atrial level was shown by transesophageal echocardiography, and no latent arrhythmia or cerebral vessel events occurred in any cases during follow-up ((35 +/- 9) months, range 6 - 51 months). CONCLUSION: Transcatheter closure of a PFO with the Spider PFO occluder is a safe and effective therapeutic option for the secondary prevention of presumed paradoxical embolism. However, randomized trials comparing this device with other devices and therapies have to be performed.

Delayed hepatocarcinogenesis through antiangiogenic intervention in the nuclear factor-kappa B activation pathway in rats.

BACKGROUND: The active form of nuclear factor-kappa B (NF-kappaB) is involved in the initiation, generation, and development of hepatocellular carcinoma (HCC), and is up-regulated in inflammation-associated malignancies. We investigated the dynamic expression of NF-kappaB and its influences on the occurrence of HCC through antiangiogenic (thalidomide) intervention in NF-kappaB activation. METHODS: Hepatoma models were induced with 2-fluorenylacetamide (2-FAA, 0.05%) in male Sprague-Dawley rats, and thalidomide (100 mg/kg body weight) was administered intragastrically to intervene in NF-kappaB activation. The pathological changes in the liver of sacrificed rats were assessed after hematoxylin and eosin staining. NF-kappaB mRNA was amplified by RT-nested PCR. The alterations of NF-kappaB and vascular endothelial growth factor (VEGF) expression were analyzed by enzyme-linked immunosorbent assay, immunohistochemistry, and Western blotting. RESULTS: Rat hepatocytes showed denatured, precancerous, and cancerous stages in hepatocarcinogenesis, with an increasing tendency of hepatic NF-kappaB, NF-kappaB mRNA, and VEGF expression, and their values in the HCC group were higher than those in controls (P<0.001). In the thalidomide-treated group, the morphologic changes generated only punctiform denaturation and necrosis at the early or middle stages, and nodular hyperplasia or a little atypical hyperplasia at the final stages, with the expression of NF-kappaB (X2=9.93, P<0.001) and VEGF (X2=8.024, P<0.001) lower than that in the 2-FAA group. CONCLUSION: NF-kappaB is overexpressed in hepatocarcinogenesis and antiangiogenic treatment down-regulates the expression of NF-kappaB and VEGF, and delays the occurrence of HCC.

Characteristics of hepatic nuclear-transcription factor-kappa B expression and quantitative analysis in rat hepatocarcinogenesis.

BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. We analyzed the expression of nuclear-transcription factor-kappa B (NF-kappaB) during hepatocarcinogenesis in order to evaluate its dynamic expression and its clinical value in the development and diagnosis of HCC. METHODS: Hepatoma models were induced by oral administration of 2-acetamidoflurene (2-FAA) to male Sprague-Dawley rats. Morphological changes were observed after hematoxylin and eosin staining. The cellular distribution of NF-kappaB expression during different stages of cancer development was investigated by immunohistochemistry, and the level of NF-kappaB expression in liver tissues was quantitatively analyzed by ELISA. The gene fragments of hepatic NF-kappaB were amplified by nested-polymerase chain reaction assay. RESULTS: Hepatocytes showed vacuole-like degeneration during the early stages, then had a hyperplastic nodal appearance during the middle stages, and finally progressed to tubercles of cancerous nests with high differentiation. The NF-kappaB-positive material was buff-colored, fine particles localized in the nucleus, and the incidence of NF-kappaB-positive cells was 81.8% in degeneration, 83.3% in precancerous lesions, and 100% in cancerous tissues. All of these values were higher than those in controls (P<0.01). Hepatic NF-kappaB expression and hepatic NF-kappaB-mRNA were also higher during the course of HCC development (P<0.01). CONCLUSION: The NF-kappaB signal transduction pathway is activated during the early stages of HCC development, and its abnormal expression may be associated with the occurrence of HCC.