Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.

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.

Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome.

BACKGROUND: Noonan syndrome (NS) is a rare genetic disease, and patients who suffer from it exhibit a facial morphology that is characterized by a high forehead, hypertelorism, ptosis, inner epicanthal folds, down-slanting palpebral fissures, a highly arched palate, a round nasal tip, and posteriorly rotated ears. Facial analysis technology has recently been applied to identify many genetic syndromes (GSs). However, few studies have investigated the identification of NS based on the facial features of the subjects. OBJECTIVES: This study develops advanced models to enhance the accuracy of diagnosis of NS. METHODS: A total of 1,892 people were enrolled in this study, including 233 patients with NS, 863 patients with other GSs, and 796 healthy children. We took one to 10 frontal photos of each subject to build a dataset, and then applied the multi-task convolutional neural network (MTCNN) for data pre-processing to generate standardized outputs with five crucial facial landmarks. The ImageNet dataset was used to pre-train the network so that it could capture generalizable features and minimize data wastage. We subsequently constructed seven models for facial identification based on the VGG16, VGG19, VGG16-BN, VGG19-BN, ResNet50, MobileNet-V2, and squeeze-and-excitation network (SENet) architectures. The identification performance of seven models was evaluated and compared with that of six physicians. RESULTS: All models exhibited a high accuracy, precision, and specificity in recognizing NS patients. The VGG19-BN model delivered the best overall performance, with an accuracy of 93.76%, precision of 91.40%, specificity of 98.73%, and F1 score of 78.34%. The VGG16-BN model achieved the highest AUC value of 0.9787, while all models based on VGG architectures were superior to the others on the whole. The highest scores of six physicians in terms of accuracy, precision, specificity, and the F1 score were 74.00%, 75.00%, 88.33%, and 61.76%, respectively. The performance of each model of facial recognition was superior to that of the best physician on all metrics. CONCLUSION: Models of computer-assisted facial recognition can improve the rate of diagnosis of NS. The models based on VGG19-BN and VGG16-BN can play an important role in diagnosing NS in clinical practice.

The clinical value of aquaporin-4 in children with hand, foot, and mouth disease and the effect of magnesium sulfate on its expression: a prospective randomized clinical trial.

To evaluate the clinical value of aquaporin-4 (AQP-4) in hand, foot, and mouth disease (HFMD) and to evaluate therapeutic efficacy of magnesium sulfate (MgSO4) and its effect on AQP-4 expression. Children with HFMD were divided into a common group, a severe group and a critical group according to Chinese guidelines; children in the critical group were further divided into two subgroups: routine treatment group and MgSO4 group. Outcome measures included systolic blood pressure (SBP), Heart rate (HR), the levels of AQP-4, interleukin-6 (IL-6), norepinephrine (NE), and neuron-specific enolase (NSE). Serum AQP-4, IL-6, NE, and NSE levels varied significantly among the critical, severe, and common groups before and after treatment. There were no significant differences in AQP-4 levels in cerebrospinal fluid (CSF) between the critical and severe groups before and after treatment; however, CSF AQP-4 levels in these two groups were higher than those in the common group before treatment. Serum and CSF AQP-4 levels in convalescence decreased significantly in the critical and severe groups. SBP, HR and serum AQP-4, IL-6, NE, NSE levels, but not CSF AQP-4 levels, were significantly lower in MgSO4 group than in the routine treatment group. AQP-4 in serum, but not in CSF, is a candidate biomarker for evaluating the severity and prognosis of HFMD; MgSO4 can provide protection on children with critical HFMD.

Analysis of the clinical diagnosis data of four experimental detection methods for pediatric syphilis.

BACKGROUND: The aim of this study was to analyze the clinical testing data of syphilis suspected children, to give more comprehensive detection information and offer experimental basis for the clinical diagnosis of syphilis. METHODS: From April 2010 to December 2012, 141 suspected syphilis children, 0-3 years old in XuZhou Children's Hospital were selected and divided into two groups: infants group (0-1 years old, 119 cases) and children group (1-3 years old, 22 cases). Blood samples were collected from these children and following experimental detection methods were used: the rapid plasma reagin (RPR) test, the colloidal gold test (SYP), the enzyme-linked immuno-sorbent assay (ELISA) and the Treponema pallidum particle agglutination (TPPA) test. The relevant experimental data were analyzed by SPSS 13.0 software. RESULTS: The positive rate of ELISA was the highest, RPR was the lowest; the positive rate of SYP and TPPA were higher than RPR, the positive rate of SYP and TPPA were lower than ELISA, and the differences were statistically significant. Among the 86 false positives, the rate for ELISA was the highest, and no TPPA false positive was found. False positive were higher in the children group than the infant group. CONCLUSIONS: High false positive rate of ELISA could be caused by hemolysis. RPR had low sensitivity in suspected syphilis neonates, and SYP was suitable for emergency treatment. TPPA was fit for the diagnosis of syphilis. Thus a combination of all these methods would be the best choice to cure syphilis infection in children. Final diagnosis can only be confirmed after periodically reexamining samples of suspected syphilis children.

[Expression of vasoactive intestinal peptide in peripheral blood of children with hand, foot and mouth disease].

OBJECTIVE: To investigate the expression of vasoactive intestinal peptide (VIP) in peripheral blood of children with hand, foot and mouth disease and its significance. METHODS: According to the condition of the disease, 86 children with hand, foot and mouth disease were classified into phase 1 group (19 children) and phase 2 group (67 children). ELISA was used to measure the concentrations of plasma VIP, interferon-γ (IFN-γ), and interleukin-4 (IL-4) in peripheral blood. Flow cytometry was used to measure CD3+, CD4+, and CD8+ T lymphocyte subsets. RT-PCR was used for qualitative detection of enterovirus 71 (EV71) RNA in stool. RESULTS: Compared with the phase 1 group, the phase 2 group had a significantly higher positive rate of EV71-RNA (P<0.05) and significantly higher serum levels of IgG, IgA, IgM, and C3 (P<0.05). The phase 2 group had significantly lower proportions of peripheral CD3+, CD4+, and CD8+ T lymphocyte subsets than the phase 1 group (P<0.05), as well as significantly lower proportion of peripheral B cells and CD4+/CD8+ ratio than the phase 1 group (P<0.05). The phase 2 group also had a significantly lower concentration of VIP in peripheral blood than the phase 1 group (P<0.05). In the 86 children with hand, foot and mouth disease, the concentration of VIP in peripheral blood was positively correlated with the proportion of CD4+ T lymphocyte subset and CD4+/CD8+ ratio (r=0.533 and 0.532 respectively; P<0.05). CONCLUSIONS: VIP may be an important marker of the severity of hand, foot and mouth disease.

[Changes of Inflammasome in Children with Immune Thrombocytopenia before and after Treatment].

OBJECTIVE: To clarify the significance of inflammasome NLRP3 in children with immune thrombocytopenia (ITP) by detecting its changes before and after treatment. METHODS: Twenty children with ITP diagnosed and treated in Xuzhou Children's Hospital were enrolled as observation group, and 10 healthy children as control group. The mRNA levels of NLRP3, ASC, and Caspase-1 were measured by real-time quantitative PCR (RT-qPCR), the serum levels of IL-18, IL-1ß, and high mobility group protein B1 (HMGB1) were detected by ELISA, and the protein level of NLRP3 was detected by Western blot. RESULTS: In newly diagnosed ITP children, the serum levels of IL-18, IL-1ß and HMGB1 significantly decreased after treatment (P<0.05). After treatment, NLRP3, ASC, and Caspase-1 mRNA levels in peripheral blood mononuclear cells were significantly lower than those before treatment (P<0.05). NLRP3 protein expression decreased significantly after treatment. CONCLUSION: Expression of NLRP3 inflammasome and downstream inflammatory factors are decrease after treatment in children with ITP, which may be used as effective prognostic markers.

[Role of Inflammasome in Children's Immune Thrombocytopenia].

OBJECTIVE: To explore the role and the mechanism of NLRP3 inflammasome in children's immune thrombocytopenia (ITP). METHODS: Twenty-one children suffered from ITP were enrolled in ITP group, 10 healthy children were selected in control group. Peripheral blood mononuclear cells (PBMNC) were isolated from ITP children and healthy controls. The mRNA levels of NLRP3, ASC, and Caspase-1 in PBMNCs were measured by quantitative real-time PCR. Moreover, the protein level of NLRP3 in PBMNCs was detected by Western blot. The plasma IL-18 level was detected by ELISA. RESULTS: The expression level of NLRP3, ASC and Caspase-1 mRNA in newly-diagnosed ITP children was dramatically higher than that in control. The plasma IL-18 level was higher than that in healthy control. Furthermore, the level of NLRP3 protein was up-regulated in ITP children. CONCLUSION: The NLRP3 inflammasome and up-regulated level of IL-18 have been found in newlydiagnosed ITP patients, and they may involve in the pathogenesis of ITP.

Correlation study between gene and respiratory disease in children.

The study was designed to explore the correlation between c-Jun N-terminal kinase 1 (JNK1) gene and bronchitis in children with respiratory diseases. From April 2013 to April 2015, 32 cases of children who were admitted to our hospital for bronchitis were selected as the observation group, while 28 cases of normal children in the same period were selected as the control group. The JNK1 gene expression level in the blood of patients of the control and observation groups was detected by quantitative polymerase chain reaction, enzyme-linked immunosorbent assay, and western blot analysis. Additionally, the correlation between the levels of JNK1 expression and bronchitis in children was statistically analyzed using SPSS software. JNK1 expression significantly increased in the observation group compared to the control group, and a significant difference was identified (P<0.05). Furthermore, from the detection of JNK1 protein content of blood of child bronchitis with different conditions, we found JNK1 expression gradually increased with the aggravation of bronchitis in children, showing a positive correlation. JNK1 expression was significantly higher in the blood of patients with acute pediatric bronchitis than that of patients with chronic bronchitis. In conclusion, JNK1 promotes the production and deterioration of bronchitis in children, which provides a theoretical and experimental basis for the diagnosis and treatment of children afflicted with bronchitis.

[Construction of lentiviral vector for mouse CXC chemokine receptor 4 gene and its expression in eukaryotic cells].

This study was aimed to clone the gene coding mouse CXC chemokine receptor 4 (CXCR4), to construct the recombinant lentiviral vector carrying enhanced green fluorescence protein (EGFP) and to explore its expression in eukaryotic cells (293FT cells). The full length CXCR4 gene was cloned by RT-PCR using bone marrow cells from C57BL/6 mouse as template and inserted into PCR-Blunt vector. CXCR4 fragment was generated by digestion with restriction endonuclease and subcloned into a lentiviral vector to generate recombinant lentiviral vector LV-IRES-EGFP-CXCR4, which was co-transfected into 293FT cells together with envelope plasmid and packaging plasmid by lipofectamine 2000. Viruses were gathered and concentrated using ultracentrifuge, and then transfected into 293FT cells. Expression of EGFP was detected by fluorescent microscopy and flow cytometry (FCM). And the expression of CXCR4 protein was detected by Western blot. The results demonstrated that mouse CXCR4 gene was cloned and the lentiviral vector was successfully constructed. The lentiviral particles were correctly packaged, and the virus titers were above 10(8) TU/ml in the supernatant after concentration. Expression of EGFP was detected by fluorescent microscopy in the transfected 293FT cells, and the transfection efficacy > 95% was determined by FCM. Expression of CXCR4 protein detected by FCM and Western blot was significantly higher than that in control group. It is concluded that the CXCR4 gene along with the gene coding EGFP is successfully inserted into a lentiviral vector to construct a recombinant lentiviral vector, which can be expressed in eukaryotic cells.