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

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.

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.

[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-1β, and high mobility group protein B1 (HMGB1) were detected by ELISA, and the protein level of NLRP3 was detected by Western blot.

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).

[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.

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.

[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.

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.

[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.