Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

AIM:To observe the effect of acupuncture on adenosine A1 receptor(A1R)in the caudate puta-men(CPu)of complete Freund's adjuvant(CFA)rats,and to explore the potential mechanism of acupuncture in treat-ment of inflammatory pain.METHODS:Sixty-four 6～8-week-old male Wistar rats were randomly divided into saline group,model group(CFA group),CFA+manual acupuncture(MA)group,CFA+solvent dimethyl sulfoxide(DMSO)group,CFA+A1R agonist 2-chloro-N6-cyclopentyladenosine(CCPA)group,CFA+A1R antagonist 8-cyclopentyl-1,3-di-propylxanthine(DPCPX)group,CFA+MA+DMSO group and CFA+MA+DPCPX group.In MA groups,on the 2nd day af-ter modeling,the rats were needled at Zusanli points on both sides,30 min at a time,once per day,for 7 d.Pain threshold of plantar thermal radiation was used to observe the pain response of the rats.The content of cyclic adenosine monophos-phate(cAMP)in the CPu was detected by ELISA.The protein expression and phosphorylation levels of protein kinase A(PKA)and cAMP response element-binding protein(CREB)were detected by Western blot.The expression of A1R in the CPu was detected by immunofluorescence staining.RESULTS:Compared with saline group,CFA modeling signifi-cantly lowered the thermal pain threshold of the rats(P<0.01).Compared with CFA group,the thermal pain threshold of the rats in CFA+MA group and CFA+CCPA group was significantly increased(P<0.05 or P<0.01).Compared with CFA+ MA+DMSO group,the thermal pain threshold of the rats in CFA+MA+DPCPX group was decreased(P<0.05).Compared with CFA group,A1R protein relative expression level and positive cells in the CPu of the rats in CFA+MA group were in-creased(P<0.05 or P<0.01).Compared with saline group,cAMP content and p-CREB protein level in the CPu of the rats in CFA+MA group were decreased(P<0.05).Compared with CFA+DMSO group,cAMP content and p-CREB pro-tein level in CFA+MA+DMSO and CFA+CCPA groups were significantly decreased(P<0.01).Compared with CFA+MA+ DMSO group,the levels of cAMP,p-PKA and p-CREB in CFA+MA+DPCPX group were significantly increased(P<0.05 or P<0.01).CONCLUSION:Acupuncture on bilateral Zusanli can relieve inflammatory pain in CFA rats,and its mech-anism may be related to A1R/cAMP/p-CREB signaling pathway.

Objective:To investigate the computed tomography (CT)-based integrated deep learning model for qualitative and quantitative classification of hepatic portal vein.Methods:The retrospective study was conducted. The CT imaging data of 291 patients undergoing upper-abdomen enhanced CT examination in the Beijing Tsinghua Changgung Hospital of Tsinghua University from October 2017 to January 2019 were collected. There were 195 males and 96 females, aged (51±12)years. The hepatic portal vein was reconstructed using the three-dimensional reconstruction system. Three-dimensional point cloud was input to the encoder model to obtain the three-dimen-sional reconstructed vectorized representation, which was used for qualitative classification and quantitative representation classification. Measurement data with normal distribution were repre-sented as Mean± SD, and comparison between groups was conducted using the paired t test. Count data were repre-sented as percentages or absolute numbers, and comparison between groups was analyzed using the paired chi-square test. Results:(1) Three-dimensional reconstruction of portal vein and anatomical classification. Three-dimensional structure was reconstructed in the 291 patients. Classification of main hepatic portal vein showed 211 cases of Akgul type A, 29 cases of Akgul type B, 16 cases of Akgul type C, 10 cases of Akgul type D, and 25 cases of unclassifiable. (2) Prediction of qualitative classification of main hepatic portal vein. Of the 291 patient samples, 25 unclassifiable or poor quality samples were excluded, 266 samples were used for automated qualitative classification of the main portal vein by machine model. There were 211 cases of Akgul type A, 29 cases of Akgul type B, 26 cases of Akgul type C&D. The Macro-F1 of 266 patients was 61.93%±40.50% and the accuracy was 84.99%, versus 32.38%±19.81% and 61.65% of Random classifier, showing significant differ-ences between them ( t=7.85, χ2=62.89, P<0.05). (3) Quantitative representation of portal vein classification. The probabilities of quantitative classification for Akgul qualitative classification of similar samples included P@1 as 73%±45%, P@3 as 70%±37%, P@5 as 69%±35%, P@10 as 67%± 32%, mean reciprocal rank(MRR) as 80%±34%, versus 57%±50%, 58%±35%, 58%±32%, 58%± 30%, 70%±37% of the baseline model, showing significant differences between the two analytical methods ( t=5.22, 5.11, 5.00, 4.99, 3.47, P<0.05). Conclusion:The automated classification model for the hepatic portal vein structure was constructed using CT-based three-dimensional reconstruc-tion and deep learning technology, which can achieve automatic qualitative classification and quanti-tatively describe the hepatic portal vein structure.

To accurately capture and effectively integrate the spatiotemporal features of electroencephalogram (EEG) signals for the purpose of improving the accuracy of EEG-based emotion recognition, this paper proposes a new method combining independent component analysis-recurrence plot with an improved EfficientNet version 2 (EfficientNetV2). First, independent component analysis is used to extract independent components containing spatial information from key channels of the EEG signals. These components are then converted into two-dimensional images using recurrence plot to better extract emotional features from the temporal information. Finally, the two-dimensional images are input into an improved EfficientNetV2, which incorporates a global attention mechanism and a triplet attention mechanism, and the emotion classification is output by the fully connected layer. To validate the effectiveness of the proposed method, this study conducts comparative experiments, channel selection experiments and ablation experiments based on the Shanghai Jiao Tong University Emotion Electroencephalogram Dataset (SEED). The results demonstrate that the average recognition accuracy of our method is 96.77%, which is significantly superior to existing methods, offering a novel perspective for research on EEG-based emotion recognition.
Electroencephalography/methods* ; Emotions ; Humans ; Signal Processing, Computer-Assisted ; Principal Component Analysis ; Algorithms ; Convolutional Neural Networks

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected with Multiple synostoses syndrome type 1 (SYNS1). METHODS: Clinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were carried out for the proband and her parents. RESULTS: The pedigree has comprised of 14 members from three generations, of whom six had manifested hearing loss, with other symptoms including proximal symphalangism, hemicylindrical nose, amblyopia, strabismus, brachydactyly, incomplete syndactyly, which fulfilled the diagnostic criteria for SYNS1. WES had detected no pathogenic single nucleotide variants and insertion-deletion (InDel) in the coding region of the NOG gene, whilst copy number variation (CNV) analysis indicated that there was a heterozygous deletion involving the NOG gene. WGS revealed a heterozygous deletion (54171786_55143998) in 17q22 of the proband. The CNV was classified as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The heterozygous deletion in 17p22 involving the NOG gene probably underlay the pathogenesis of SYNS1 in this pedigree. Above finding has enriched the mutational spectrum of NOG. CNV should be considered when conventional sequencing has failed to detect any pathogenic variants in such patients.
Female ; Humans ; DNA Copy Number Variations ; East Asian People ; Pedigree ; Synostosis ; Phenotype

The Genome Warehouse (GWH) is a public repository housing genome assembly data for a wide range of species and delivering a series of web services for genome data submission, storage, release, and sharing. As one of the core resources in the National Genomics Data Center (NGDC), part of the China National Center for Bioinformation (CNCB;https://ngdc.cncb.ac.cn), GWH accepts both full and partial (chloroplast, mitochondrion, and plasmid) genome sequences with different assembly levels, as well as an update of existing genome assemblies. For each assembly, GWH collects detailed genome-related metadata of biological project, biological sample, and genome assembly, in addition to genome sequence and annotation. To archive high-quality genome sequences and annotations, GWH is equipped with a uniform and standardized procedure for quality control. Besides basic browse and search functionalities, all released genome sequences and annotations can be visualized with JBrowse. By May 21, 2021, GWH has received 19,124 direct submissions covering a diversity of 1108 species and has released 8772 of them. Collectively, GWH serves as an important resource for genome-scale data management and provides free and publicly accessible data to support research activities throughout the world. GWH is publicly accessible at https://ngdc.cncb.ac.cn/gwh.

Objective:In this study, a gait acquisition and analysis system is developed to provide a cheap, easy-to-use solution for quantitative recording and analysis of patients' gaits.Methods:From April 2017 to October 2018, we collected the gait data of 19 patients with knee osteoarthritis and 19 healthy volunteers in the orthopaedic outpatient department. Among 19 patients, there were 9 males and 10 females, aged 50.1±9.4 years old. Among 19 healthy volunteers, there were 8 males and 11 females, aged 50.7±10.3 years old. Then, from the collected gait data, the static gait features such as gait speed, step length, stride, and dynamic gait features were automatically calculated, and the statistical difference analysis was finished to determine the correlation between these quantitative gait features and knee osteoarthritis.Results:Firstly, the gait data collected by the depth camera was compared with the data from the multi infrared camera-based motion analysis system (gold standard). The average angle error of the collected knee joint angle was 0.98 degrees, which proved the correctness of the gait data recorded by the depth camera. The statistical difference analysis of gait characteristics between the patient group and the healthy group showed that the gait characteristics with P<0.05 included: gait speed ( r=-0.922, P<0.001), step length ( r=-0.897, P=0.004), stride ( r=-0.914 , P<0.001), dynamic characteristics of angle of knee joint ( r=0.775, P=0.001). Conclusion:The gait acquisition and analysis system based on the depth camera can accurately record and store the gait data of the patients with knee osteoarthritis. Moreover, the extracted quantitative gait features have statistical differences between the patients and the healthy group, which is helpful for the gait analysis of bone joint.

Objective:To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing.Methods:The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and pedigree analysis. The clinical examinations included imaging examination, audiometry (pure tone audiometry, acoustic immittance, brainstem auditory evoked potential, and otoacoustic emission), vestibular function test, and ophthalmic examination (visual acuity test, visual field test, fundus examination, visual evoked potential, and electroretinogram). Target exome sequencing of 129 known deafness genes and bioinformatics analysis were used to screen suspected pathogenic variants. Sanger sequencing and minigene assay were used to verify and functionally investigate the mutation detected, respectively. According to the standards and guidelines for interpreting genetic variants proposed by the American College of Medical Genetics and Genomics, the variants c.6049G>A and c.8699A>G were classified as pathogenic/likely pathogenic, and the variant c.9856C>G was classified as variants of uncertain significance.Results:The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect, and normal vestibular function. Both of them had three CDH23 mutations, including CDH23 (NM_022124.5) c.6049G>A (p.Gly2017Ser),c.9856C>G (p.His3286Asp), and c.8699A>G (p. Asp2900Gly), The first two were inherited from the father, and the last one was from the mother. The missense variants c.9856C>G and c.8699A>G were not included in the gnomad database. The missense mutation c.6049G>A was located in the last position of exon 46 and was predicted to affect splicing by bioinformatics software. The minigene experiment showed that the mutation cause exon skipping of exon 46, resulting in an abnormal protein. Conclusions:Compound heterozygous variations of the CDH23 are the leading cause of USH1D in the family. This study confirms that the compound heterozygosity of splicing and missense variants of the CDH23 gene could lead to USH1D.

Objective: To investigate the application value of augmented reality (AR) technology in pancreatoduodenectomy (PD). Methods: The retrospective and descriptive study was conducted. The clinicopathological data of 3 male patients who underwent PD in Tsinghua University Affiliated Beijing Tsinghua Changgung Hospital from June 2018 to February 2019 were collected. The 3 patients were aged from 52 to 63 years, with a median age of 57 years. Digital imaging and communication standard format data of enhanced computed tomography (CT) scan were collected, the three-dimensional (3D) images of abdominal arteries, portal vein, descending duodenum, pancreatic body and tail, pancreatic head, common bile duct, and pancreatic duct were reconstructed. The results were imported into the AR software. Optical tracking based on two-dimensional codes and manual interactive rigid registration were adopted for intraoperative navigation. Observation indicators: (1) surgical and postoperative conditions; (2) postoperative pathological examination; (3) follow-up. Follow-up using outpatient examination or telephone interview was conducted to detect survival of patients and tumor metastasis and recurrence up to June 2019. The measurement data with skewed distribution were expressed as M (range). Count data were expressed as absolute numbers. Results: (1) Surgical and postoperative conditions: all the 3 patients underwent PD with AR technology as intraoperative navigation successfully. The operation time, volume of intraoperative blood loss, and duration of postoperative hospital stay were 6 hours (range, 5-8 hours), 700 mL (range, 300-900 mL), 11 days (range, 9-12 days). There was no perioperative death or complication occured. After surgery, the patients who underwent PD combined with superior mesenteric vein (SMV) resection and reconstruction had patent SMV on the enhanced computed tomography examination. (2) Postoperative pathological examination: results of pathological examination showed 1 case of intraductal papillary mucinous neoplasm (IPMN) of the pancreas with invasive adenocarcinoma (neoplasm invading SMV), 1 case of insulinoma, and 1 case of periampullary neuroendocrine carcinoma, respectively. (3) Follow-up: 3 patients were followed up for 4-12 months, with a median follow-up time of 6 months. During the follow-up, the patient with IPMN of the pancreas and invasive adenocarcinoma had liver metastasis at 3 months after surgery, and received chemotherapy at other hospital. After 4 cycles of chemotherapy, the metastatic nodule shrank, and the patient was still in follow-up up to deadline of follow-up. Other 2 patients had no recurrence or metastasis. Conclusion AR technique assisted PD is safe and feasible, which is helpful to indentify vascular branches and tracks.