1.Risk factor analysis for postoperative pulmonary infections with multidrug-resistant bacteria in patients with oral squamous cell carcinoma undergoing flap repair surgery
WANG Qian ; PENG Hui ; ZHANG Liyu ; YANG Zongcheng ; WANG Yuqi ; PAN Yu ; ZHOU Yu
Journal of Prevention and Treatment for Stomatological Diseases 2025;33(7):554-562
Objective:
To investigate the distribution patterns and risk factors for multidrug-resistant bacterial pulmonary infections in patients with oral squamous cell carcinoma (OSCC) undergoing flap reconstruction surgery, and to provide evidence for infection prevention and treatment in this population.
Methods:
This study was approved by the institutional medical ethics committee. We retrospectively analyzed sputum culture results, antimicrobial susceptibility testing data, and clinical records of 109 OSCC patients undergoing flap reconstruction. Chi-square tests were employed to identify pathogens and risk factors for multidrug-resistant bacteria (MDR) in postoperative pulmonary infections. Multivariate logistic regression analysis was conducted to determine MDR risk factors and establish a nomogram prediction model. The model’s discriminatory power, accuracy, and clinical utility were evaluated using receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA).
Results:
Among the 109 patients, 52 had negative sputum cultures and 57 tested positive, of whom 14 developed multidrug-resistant (MDR) pulmonary infections. Chi-square analysis revealed that blood transfusion, pre-existing pulmonary diseases, operation time ≥ 490 min, intraoperative blood loss ≥ 400 mL, and abnormal BMI were significant risk factors for postoperative MDR infections (P < 0.05). Multivariate logistic regression identified pre-existing pulmonary diseases, intraoperative blood loss ≥ 400 mL, abnormal BMI, and operative duration ≥ 490 min as independent risk factors for MDR infections (P < 0.05). The nomogram prediction model for MDR infections demonstrated an area under the ROC curve (AUC) of 0.874 (95% CI: 0.775-0.973). The calibration plot showed good agreement between predicted and observed outcomes. DCA indicated a net clinical benefit when the threshold probability for high-risk MDR infections ranged from 0.000 to 0.810. Common MDR pathogens included MDR Pseudomonas aeruginosa, MDR Klebsiella pneumoniae, carbapenem-resistant Acinetobacter baumannii (CRAB), and methicillin-resistant Staphylococcus aureus (MRSA).
Conclusion
Among OSCC patients undergoing flap reconstruction, MDR pulmonary infections were predominantly caused by gram-negative bacteria (including CRAB, MDR Pseudomonas aeruginosa, and MDR Klebsiella pneumoniae along with the gram-positive pathogen MRSA. Pre-existing pulmonary comorbidities, prolonged surgery duration (≥ 490 min), significant intraoperative blood loss (≥ 400 mL), and abnormal BMI were confirmed as independent risk factors for these MDR infections. The nomogram predictive model incorporating these four variables demonstrated clinically reliable accuracy in risk stratification for postoperative MDR pulmonary infections in this patient population.
2.Development and multicenter validation of machine learning models for predicting postoperative pulmonary complications after neurosurgery.
Ming XU ; Wenhao ZHU ; Siyu HOU ; Hongzhi XU ; Jingwen XIA ; Liyu LIN ; Hao FU ; Mingyu YOU ; Jiafeng WANG ; Zhi XIE ; Xiaohong WEN ; Yingwei WANG
Chinese Medical Journal 2025;138(17):2170-2179
BACKGROUND:
Postoperative pulmonary complications (PPCs) are major adverse events in neurosurgical patients. This study aimed to develop and validate machine learning models predicting PPCs after neurosurgery.
METHODS:
PPCs were defined according to the European Perioperative Clinical Outcome standards as occurring within 7 postoperative days. Data of cases meeting inclusion/exclusion criteria were extracted from the anesthesia information management system to create three datasets: The development (data of Huashan Hospital, Fudan University from 2018 to 2020), temporal validation (data of Huashan Hospital, Fudan University in 2021) and external validation (data of other three hospitals in 2023) datasets. Machine learning models of six algorithms were trained using either 35 retrievable and plausible features or the 11 features selected by Lasso regression. Temporal validation was conducted for all models and the 11-feature models were also externally validated. Independent risk factors were identified and feature importance in top models was analyzed.
RESULTS:
PPCs occurred in 712 of 7533 (9.5%), 258 of 2824 (9.1%), and 207 of 2300 (9.0%) patients in the development, temporal validation and external validation datasets, respectively. During cross-validation training, all models except Bayes demonstrated good discrimination with an area under the receiver operating characteristic curve (AUC) of 0.840. In temporal validation of full-feature models, deep neural network (DNN) performed the best with an AUC of 0.835 (95% confidence interval [CI]: 0.805-0.858) and a Brier score of 0.069, followed by Logistic regression (LR), random forest and XGBoost. The 11-feature models performed comparable to full-feature models with very close but statistically significantly lower AUCs, with the top models of DNN and LR in temporal and external validations. An 11-feature nomogram was drawn based on the LR algorithm and it outperformed the minimally modified Assess respiratory RIsk in Surgical patients in CATalonia (ARISCAT) and Laparoscopic Surgery Video Educational Guidelines (LAS VEGAS) scores with a higher AUC (LR: 0.824, ARISCAT: 0.672, LAS: 0.663). Independent risk factors based on multivariate LR mostly overlapped with Lasso-selected features, but lacked consistency with the important features using the Shapley additive explanation (SHAP) method of the LR model.
CONCLUSIONS:
The developed models, especially the DNN model and the nomogram, had good discrimination and calibration, and could be used for predicting PPCs in neurosurgical patients. The establishment of machine learning models and the ascertainment of risk factors might assist clinical decision support for improving surgical outcomes.
TRIAL REGISTRATION
ChiCTR 2100047474; https://www.chictr.org.cn/showproj.html?proj=128279 .
Adult
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Humans
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Male
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Middle Aged
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Algorithms
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Lung Diseases/etiology*
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Machine Learning
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Neurosurgical Procedures/adverse effects*
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Postoperative Complications/diagnosis*
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Risk Factors
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ROC Curve
3.Non-targeted Metabolomics Analysis of Fuling Yunhua Granules in Treatment of Type 2 Diabetes Mellitus Rats
Mengyao TIAN ; Keke LUO ; Mengxiao WANG ; Tianbao HU ; Hongmei LI ; Zongyuan HE ; Lixin YANG ; Liyu HAO ; Nan SI ; Yuyang LIU ; Baolin BIAN ; Hongjie WANG ; Yanyan ZHOU
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(23):195-204
ObjectiveBased on non-targeted metabolomics, to analyze the regulation of endogenous differential metabolites in serum of type 2 diabetes mellitus(T2DM) rats by Fuling Yunhua granules, and to clarify the metabolic pathways through which this granules exerted its effect on improving T2DM. MethodSeventy SD rats, half male and half female, were randomly divided into the control group, model group, and high, medium, low dose groups of Fuling Yunhua granules(20.70, 10.35, 5.18 g·kg-1 in raw drug amount) and the positive drug group(pioglitazone hydrochloride tablets, 8.1 mg·kg-1). Except for the control group, other groups were fed with high-sugar and high-fat diet combined with intraperitoneal injection of streptozotocin(STZ) to establish a T2DM rat model. After successful modeling, the treatment groups were administered the corresponding drugs by gavage, and the control group and model group were treated with an equal volume of saline by gavage, once/d, for 28 d. Fasting blood glucose(FBG) and glycosylated hemoglobin A1c(GHbA1c) levels were measured in all groups of rats during the administration period, and hematoxylin-eosin(HE) staining was used to observe the pathomorphological changes in the pancreatic tissues of rats at the end of the administration period. The endogenous metabolite levels in rat serum were detected by ultra-performance liquid chromatography-linear ion trap-electrostatic field orbitrap high-resolution mass spectrometry(UPLC-LTQ-Orbitrap MS), and the data were processed using principal component analysis(PCA) and orthogonal partial least squares-discriminant analysis(OPLS-DA). Differential metabolites were identified by the Human Metabolome Database(HMDB) and the Kyoto Encyclopedia of Genes and Genomes(KEGG), and screened for differential metabolites with variable importance in the projection(VIP) value>1, P<0.05, and fold change(FC)<0.6 or FC>1. And the metabolic pathway enrichment analysis of the screened differential metabolites was performed by MetaboAnalyst 5.0, then the screened differential metabolites were diagnosed and evaluated by the receiver operating characteristic(ROC) curves. ResultCompared with the control group, the FBG level of rats in the model group increased significantly(P<0.01), the GHbA1c content tended to increase, but the difference was not statistically significant, and the pancreatic tissue of rats was obviously damaged, the number of pancreatic islets decreased, and the pancreatic β-cells were obviously reduced, atrophied and enlarged. Compared with the model group, the FBG levels of rats in the high dose group of Fuling Yunhua granules and the positive drug group were significantly reduced after 2 weeks of administration(P<0.05, P<0.01), the GHbA1c content of rats in the high dose group of Fuling Yunhua granules was significantly reduced(P<0.05), and the pancreatic tissue lesions of rats in the different dose groups of Fuling Yunhua granules were reduced. The results of non-targeted metabolomics showed that 46 differential metabolites were significantly changed in the model group compared with the blank group. Pathway enrichment analysis found that T2DM mainly affected biological processes including biosynthesis of primary bile acid, D-amino acid metabolism, steroid hormone biosynthesis, and glycerophospholipid metabolism in rats. Compared with the model group, the levels of 8 differential metabolites in the high dose group of Fuling Yunhua granules were significantly adjusted, and the pathway enrichment analysis found that D-amino acid metabolism, retinol metabolism, glycine, serine and threonine metabolism, tryptophan metabolism and other metabolic pathways were mainly involved. ROC curves further analysis revealed that the four characteristic differential markers of 11-cis-retinol, D-piperidinic acid, D-serine, and p-cresol sulfate had high diagnostic value for the treatment of T2DM with Fuling Yunhua granules. ConclusionFuling Yunhua granules can improve the symptoms of T2DM rats by regulating the amino acid metabolic and retinol metabolic pathways through the modulation of endogenous differential metabolites.
4.Clinical and Animal Experimental Research on Kidney Deficiency Syndrome: A Review
Guimin LIU ; Jianhui SUN ; Jianliang LI ; Zeyue YU ; Liyu HAO ; Hanhui HUANG ; Zongyuan LI ; Aoao WANG ; Yang YANG ; Hongmei LI
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(23):269-280
Kidney deficiency syndrome is a common clinical syndrome in traditional Chinese medicine (TCM). With the progress of science and technology, clinical and animal experiments on kidney deficiency syndrome have made remarkable progress. Research on kidney deficiency and the nature of "kidney" involves a large number of physiological and pathological bases, which are closely related to physiological and pathological links in the human body, among which the neuroendocrine-immune network shares the closest relationship. However, there are still many challenges in modern research on kidney deficiency syndrome, such as expert consensus on clinical diagnostic criteria and evaluation indexes and optimization of animal experimental models. In the past decade, a large number of clinical and animal experiments have been reported in the literature on kidney deficiency syndrome, among which the literature focusing on the combination of disease and syndrome is predominant, and most of them focus on kidney Yang deficiency and kidney Yin deficiency, involving the exploration of many pathological mechanisms. Research on the mechanisms related to kidney deficiency syndrome encompasses multiple signaling pathways and various biochemical indicators, including the phosphatidylinositol 3-kinase/protein kinase B/nuclear factor-erythroid 2-relatedfactor-2(PI3K/Akt/Nrf2) signaling pathway, the Toll-like receptor 4/myeloid differentiation factor88/nuclear factor-κB(TLR4/MyD88/NF-κB) signaling pathway, the Janus kinase 2/signal transducer and activator of transcription 3(JAK2/STAT3) signaling pathway, Osteoprotectin/nuclear factor-κB receptor activator ligand/receptor activator of nuclear factor-κB (OPG/RANKL/RANK) signaling pathway. The biochemical indicators cover the cyclic adenosine monophosphate/cyclic guanosine monophosphate (cAMP/cGMP) ratio, Na+-K+-ATPase activity, Ca2+-Mg2+-ATPase activity, adrenocorticotropic hormone (ACTH), polycorticosterone (CORT), 17-OHCS, and other sex hormone indicators, providing crucial reference values for diagnosing kidney Yang deficiency or kidney Yin deficiency. The literature related to kidney deficiency syndrome over the past decade was collated and excavated, with a view to providing a reference for research on kidney deficiency syndrome.
5.Effects of stress-induced protein Sestrin2 on necroptosis of dendritic cells induced by lipopolysaccharide
Mengyao WU ; Renqi YAO ; Yu DUAN ; Lu WANG ; Liyu ZHENG ; Pengyi HE ; Ning DONG ; Yao WU ; Yongming YAO
Chinese Critical Care Medicine 2024;36(3):237-243
Objective:To investigate the effect of stress-induced protein Sestrin2 (SESN2) on necroptosis of mouse dendritic cell (DC) induced by lipopolysaccharide (LPS) combined with zVAD, a panaspartate-specific cysteine protease (caspase) inhibitor.Methods:The DC2.4 cell line derived from the bone marrow of mouse in the 3rd to 10th generations was cultured. The cells were stimulated with LPS for 0 hour, 6 hours, 12 hours, and 24 hours, and grouped according to the stimulation time points. Western blotting was performed to determine the protein expression of SESN2 in each group. Overexpression empty lentivirus (NC), SESN2 gene overexpression RNA sequence lentivirus (SESN2 LV-RNA), small interfering empty lentivirus (NS), and SESN2 gene small interfering RNA sequence lentivirus (SESN2 siRNA) were transfected into DC2.4 cells. After 72 hours of transfection, cell fluorescence expression was observed under the inverted fluorescence microscope. Cells in each transfection group were stimulated with LPS for 24 hours. The blank control groups were set up and cultured with phosphate buffered saline (PBS) for 24 hours. Western blotting was performed to measure SESN2 protein expression. In the same groups as above, cells were stimulated with LPS+zVAD for 24 hours. The blank control groups were set up and cultured with PBS for 24 hours. Western blotting was used to determine the expression of mixed lineage kinase domain-like protein (MLKL) and phosphorylated-MLKL (p-MLKL). The p-MLKL levels and the number of positive cells were observed using laser scanning confocal microscopy. The necroptotic cell ratios were assessed by both flow cytometry and Hoechst staining.Results:Compared to the LPS 0 hour group, the expression of SESN2 in the LPS 24 hours group showed a significant increase. Therefore, 24 hours was chosen as the subsequent stimulation time point. After successful lentivirus transduction and 24 hours of cultivation, the MLKL phosphorylation level in the SESN2 siRNA+LPS+zVAD group was significantly higher than that in the NS+LPS+zVAD group. The MLKL phosphorylation in the SESN2 LV-RNA+LPS+zVAD group was significantly lower than that in the NC+LPS+zVAD group. The MLKL phosphorylation levels in both the NS+LPS+zVAD group and the NC+LPS+zVAD group were obviously higher than those in the NS+PBS group and the NC+PBS group, respectively. Laser scanning confocal microscopy showed that the trends in quantity and fluorescence intensity of p-MLKL protein expressions were consistent with the above results. The results from flow cytometry analysis and Hoechst staining showed that the rates of cell necrotic apoptosis in SESN2 siRNA+LPS+zVAD group were significantly higher than those in NS+LPS+zVAD group [flow cytometry analysis: (30.800±1.153)% vs. (20.800±1.114)%, Hoechst staining: (75.267±0.451)% vs. (46.267±3.371)%, both P < 0.05], indicating that knocking down SESN2 further exacerbated the occurrence of necroptosis. The necrotic apoptosis rates in SESN2 LV-RNA+LPS+zVAD group were significantly lower than those in NC+LPS+zVAD group [flow cytometry analysis: (7.160±0.669)% vs. (19.240±2.322)%, Hoechst staining: (32.433±3.113)% vs. (48.567±4.128)%, both P < 0.05], indicating that overexpressing SESN2 reversed such response and markedly reduced the proportion of necroptotic cells compared to the corresponding empty vector group. Conclusion:SESN2 exhibits an inhibitory effect on necroptosis of DC in sepsis. Targeted SESN2 expression may regulate the process of DC-mediated immune response in sepsis.
6.Radiological shoulder parameter associated with postoperative satisfaction in Lenke type 1 adolescent idiopathic scoliosis
Fang XIE ; Dan GENG ; Fei WANG ; Jinggang DANG ; Liyu XIA ; Zhuojing LUO ; Xueyu HU
Chinese Journal of Orthopaedics 2024;44(8):525-531
Objective:To analyze the radiographic parameters of shoulder balance that affect the postoperative satisfaction of Lenke type 1 adolescent idiopathic scoliosis (AIS).Methods:A total of 98 patients with AIS who underwent posterior pedicle screw fusion in Xijing Hospital of Air Force Medical University from August 2017 to July 2020 were retrospectively analyzed. There were 26 males and 72 females, aged 15.2±5.3 years (range, 10-24 years). Distribution of upper instrumented vertebrae: T 2 58 cases (59%), T 3 25 cases (26%), T 4 15 cases (15%); Distribution of lower instrumented vertebrae: T 12 63 cases (64%), L 1 28 cases (29%), L 2 4 cases (4%), L 3 3 cases (3%). Clavicle angle (CA), radiographic shoulder height (RSH), and coracoid height difference (CHD), clavicle-rib cage intersection difference (CRID), T 1 tilt angle, first rib tilt angle, clavicle chest angle difference(CCAD) and Scoliosis Research Society-22 (SRS-22) scale were compared before and after operation. Binary logistic regression was used to analyze the radiographic indicators of shoulder balance that affected the postoperative satisfaction of Lenke type 1 AIS. The receiver operating characteristic (ROC) curve was drawn to determine the threshold value of the imaging index. Results:All operations were successfully completed. The operation time was 260±80 min (range, 220-320 min), and the intraoperative blood loss was 360±110 ml (range, 300-700 ml). There was no nerve, dural or vascular injury during operation. RSH, CHD, CRID, T 1 tilt angle, first rib tilt angle, and CCAD at the final follow-up were 4.0 (0, 13.9) mm, 7.0 (0, 12.9) mm, 4.0 (0, 10.0) mm, 4.8° (3.3°, 8.2°), 5.3°±3.9°, and 5.5° (3.0°, 8.9°), respectively, which were less than the preoperative 10.6 (2.0, 20.3) mm, 10.3 (2.5, 15.9) mm, 8.0 (1.0, 15.2) mm, 7.6° (3.5°, 12.2°), 7.5°±6.9°, 8.5° (3.6°, 18.3°), and the difference was statistically significant ( P<0.05). The SRS-22 function, pain, appearance, and psychological scores at the final follow-up were 4.6 (4.0, 4.9), 4.1±0.5, 4.1±0.7, and 4.2 (3.9, 4.8) points, respectively, which were greater than the preoperative scores of 4.2 (3.8, 4.6), 4.0±0.7, 3.5±0.7, and 4.0 (3.5, 4.4) points, the difference was statistically significant ( P<0.05). Binary logistic regression showed that CCAD was an independent radiographic indicator of shoulder balance that affected the satisfaction of AIS patients after orthopaedic surgery ( OR=0.826, P=0.040). ROC curve showed that the area under the curve and 95% CI was 0.726 (0.572, 0.865), and the threshold was 6.6°. Conclusion:CCAD is an independent radiographic parameter of shoulder balance that affects the postoperative satisfaction of AIS. Patients are more likely to achieve a satisfactory outcome when their postoperative CCAD is ≤6.6°, which can be used clinically as a radiographic parameter to assess the efficacy of orthopaedic spine surgery.
7.Analysis of long-term efficacy of CO 2 laser partial excision of vocal folds for 599 cases in the treatment of vocal cord leukoplakia
Haizhou WANG ; Xiaoyu LIU ; Xueyan LI ; Liyu CHENG ; Rong HU ; Qingwen YANG ; Yanru LI ; Wen XU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(10):1029-1036
Objective:To analyze long-term prognosis and influencing factors of recurrence in vocal fold leukoplakia treated by endoscopic cordectomy with CO 2 laser. Methods:A retrospective review was conducted on 599 patients with vocal fold leukoplakia [566 males and 33 females, aged 17-84 years (median age 55 years)], undergoing endoscopic cordectomy by CO 2 laser under general anesthesia at the Department of Otorhinolaryngology Head and Neck Surgery of Beijing Tongren Hospital, Capital Medical University, from January 2000 to December 2023. The study analyzed the clinical features, pathological grade, surgical methods, postoperative voice function, recurrence, malignant changes and analyzed the long-term efficacy and and its influencing factors. The patients were followed up for a duration of 6-249 months postoperatively, with a median follow-up time of 48 months. SPSS 20.0 software was used for statistical analysis. Results:Among the 599 patients, the histopathological grades included simple squamous cell hyperplasia in ( n=264, 44.08%), mild dysplasia ( n=96, 16.03%), moderate dysplasia ( n=74, 12.35%), severe dysplasia( n=43, 7.81%), carcinoma in situ( n=35, 5.84%), and carcinoma in situ with microinvasion( n=87, 14.52%). The 3-year and 5-year overall recurrence rates were 12.91% and 16.00%, respectively. In patients with precancerous lesion, 3.91% of recurrences presented with an upgraded pathologic grade and 2.34% evolved into carcinoma. The risk of recurrence was higher in lesions involving the anterior commissure, larger lesions, significant reduction/absence of mucosal waves, neovascularization/suspected neovascularization, and pathology of dysplasia/carcinoma in situ/carcinoma in situ with microinvasion( F=44.76,21.54,11.55,8.78,23.20,respectively, P<0.05). Additionally, patients with recurrent disease exhibited higher reflux symptom index scores compared to those without recurrence. Exophytic lesion characteristics and the inability to cease smoking postoperatively were identified as independent risk factors for recurrence with an upgraded pathological grade, with odds ratios of 8.675 and 11.380 times greater than those with non-exophytic lesions and successful smoking cessation, respectively. At the 6-months postoperative assessment, patients who underwent subepithelial cordectomy (typeⅠ) demonstrated a statistically significant increase in fundamental frequency ( t=-3.38, P<0.05), and while other voice acoustic parameters were not significantly different.Conversely, those who underwent transmuscular cordectomy (TypeⅢ) exhibited significant alterations in multiple voice acoustic parameters when compared to preoperative values ( P<0.05). Furthermore, postoperative vocal fold adhesions developed in 84 patients with 13 of these individuals requiring surgical intervention for adhesion release. Conclusions:Lesions involving the anterior commissure, larger lesions, pathology of dysplasia/carcinoma in situ/carcinoma in situ with microinfiltration, significant reduction/absence of vocal fold mucosal waves, and neovascularization visible under NBI are indicative of an increased risk of recurrence, whereas exophytic lesions and the inability to cease smoking postoperatively significantly increase the risk of recurrence with elevated pathologic grade. Recovery of postoperative voice quality is procedure-dependent, underscoring the importance of surgical approach selection in the management of vocal fold leukoplakia.
8.Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter syndrome
Benchang LI ; Fengyu CHE ; Lidangzhi MO ; Liyu ZHANG ; Guoxia WANG ; Ying YANG
Chinese Journal of Medical Genetics 2024;41(8):916-924
Objective:To explore the clinical phenotype and genetic variant in a Chinese pedigree affected with Hunter syndrome and create immortalized cell lines for the affected pedigree members.Methods:A pedigree of six members who had visited Xi′an Children′s Hospital in July 2022 was selected as the study subject. Clinical data was collected. Whole exome sequencing was carried out for the pedigree members. Candidate variant was verified by Sanger sequencing. In addition, peripheral B lymphocytes were transfected with Epstein-Barr virus to create immortalized cell lines, which were then subjected to enzyme activity analysis.Results:The patient, a five-year-and-seven-month-old boy, had exhibited stiff limbs and enlarged joints. He had developed hernia, scaphocephaly, and barrel chest from 3 months of age. His uncle also had stiff limbs, poor hearing, blindness, and right oblique inguinal hernia. Above features had resembled those of Hunter syndrome. Genetic testing revealed that both the child and his uncle had harbored an IDS (NM_000202.8): c. 823G>A (p.D275N) variant, which was unreported previously. Bioinformatic analysis indicated that the D275 to be a highly conserved site, and the D275N variant may affect the stability of the protein′s spatial conformation, thereby decrease the catalytic activity of the enzyme. The successfully constructed immortalized lymphoblastoid cell lines for the child and his parents showed increased volume, irregular shape, burr structure and cluster growth. And the value of IDS activity of the patient′s immortalized lymphoblastoid cells was below the limit of detection. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS3+ PM2_Supporting+ PM5+ PP1+ PP3). Conclusion:Above finding has enriched the phenotypic and mutational spectra of Hunter syndrome, and provided a basis for the genetic counseling for this pedigree. The creation of immortalized cell lines has offered a model for further investigation of the impact of variant on the function of IDS and development of targeted drugs.
9.Clinical features and genetic analysis of a child with Congenital disorder of glycosylation due to novel variants of COG6 gene
Liyu ZHANG ; Ying YANG ; Fengyu CHE ; Benchang LI ; Lidangzhi MO ; Guoxia WANG ; Jiangang ZHAO
Chinese Journal of Medical Genetics 2024;41(11):1349-1355
Objective:To analyze the clinical characteristics of a child with Congenital disorder of glycosylation due to compound heterozygous variants of COG6 gene ( COG6-CDG). Methods:A child who was admitted to Xi′an Children′s Hospital on January 10, 2023 was selected as the study subject. Clinical data were collected. Pathogenic variants were analyzed by whole exome sequencing, and candidate variants were verified by Sanger sequencing, in vitro experiments and bioinformatic analysis. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (No. 20230101). Results:The child, a 1-month-8-day-old male, was admitted for diarrhea and weight loss for one month. He had presented with cholestasis, diarrhea, facial dysmorphism, poor response, bilateral Simian crease, and brain atrophy. After discharge, he had continued to have high fever, feeding difficulty, and deceased finally. Whole exome sequencing results showed that he had harbored compound heterozygous variants of the COG6 gene, namely c. 807delT (p.F269Lfs*37) and c. 1746+ 1G>C (p.Gly565_Met582del). Sanger sequencing verified that the variants were inherited from his father and mother, respectively. In vitro experiments verified that the c. 1746+ 1G>C variant could affect the mRNA splicing and produce a truncated protein, whilst the c. 807delT variant could significantly reduce gene expression at both mRNA and protein levels. Based on the guidelines from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP), the variants were classified as pathogenic (PVS1+ PM3+ PM2_Supporting) and likely pathogenic (PVS1+ PM2_Supporting), respectively. Conclusion:The c. 807delT (p.F269Lfs*37) and c. 1746+ 1G>C (p.Gly565_Met582del) compound heterozygous variants of the COG6 gene probably underlay the pathogenesis of this child. Above finding has enriched the mutational spectrum of COG6-CDG and provided a basis for the genetic counseling for this family.
10.Effect of extracorporeal shock wave therapy combined with surface EMG biofeedback on post-traumatic stiffness of the elbow
Liyu FANG ; Yachun REN ; Yefan CAO ; Hewei WANG
The Journal of Practical Medicine 2024;40(10):1364-1369
Objective To observe the therapeutic effect of extracorporeal shock wave therapy combined withsurface electromyography biofeedback training(ESW-sEMGBF)on post-traumatic elbow joint stiffness.Methods A total of 80 patients with post-traumatic elbow stiffness admitted to the Rehabilitation Department of Hangzhou Fuyang Hospital of Orthopedics of Traditional Chinese Medicine from January 2021 to December 2021 were randomly assigned into control group(n = 40)and treatment group(n = 40)using a lottery method.The control group received conventional rehabilitation treatment(including soft tissue release,joint mobilization,continuous passive motion and cold therapy),and the treatment group received conventional treatment combined with ESW-sEMGBF.Both groups underwent training once daily for five days a week over eight weeks.The visual analogue scale(VAS),active range of motion(AROM)of the elbow joint,and Mayo Elbow Performance Score(MEPS)were evaluated before and after treatment.Results After 8 weeks of treatment,significant improvements were observed in all outcomes for both groups.The treatment group showed better improvements in VAS scores,AROM,and MEPS after treatment compared with the control group(P<0.05,P<0.001,P<0.001).No side effects or adverse reactions were observed in either group after treatment.Conclusion Extracorporeal shock wave therapy combined with surface electromyography biofeedback training effectively alleviated pain in patients with post-traumatic elbow joint stiffness,improved elbow joint function,and increased active range of motion of the elbow joint.


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