Objective:To analyze the efficacy of enzyme replacement therapy and anti-drug antibody production in children with Fabry disease.Methods:The clinical data of 7 children with Fabry disease treated with enzyme replacement therapy for more than 1 year at Children′s Hospital of Zhejiang University School of Medicine from July 2021 to June 2024 were retrospectively analyzed. The basic information and the changes of related clinical indicators before and after treatment were collected. Paired sample t test was used to compare renal function, left heart mass index, pain score and other related indexes before and after treatment. The anti-drug antibodies were detected by enzyme-linked immunosorbent assay. Results:A total of 6 boys and 1 girl were included. The age of diagnosis was (12.2±1.8) years. After 1 year of enzyme replacement therapy, the abnormal substrate globotriaosylsphingosine and brief pain inventory scores of all children were significantly lower than those before treatment ((16±11) vs. (63±42) μg/L, 22±19 vs. 45±29, t=3.88, 3.43, both P<0.05). There were no significant differences in glomerular filtration rate, urinary microalbumin to creatinine and left heart mass index before and after treatment ((124±35) vs. (136±26) ml/(min·1.73 m 2), (9.3±8.3) vs. (3.8±2.5) mg/g, (38±9) vs. (33±6) g/m 2.7, t=1.33, 1.74, 1.19, all P>0.05). Patients 4, 5 and 6 developed anti-drug antibodies at 1 month, 4 months and 1 month after medication, respectively. Patient 4 had persistently high anti-drug antibody titers (absorbance 3.65-3.73) accompanied by urticaria, elevated globotriaosylsphingosine and worsening clinical symptoms. Conclusions:The enzyme replacement therapy can effectively improve the clinical symptoms and reduce the level of globotriaosylsphingosine in children with Fabry disease. The anti-drug antibody is common in patients after long-term enzyme replacement therapy and may diminish the efficacy, which needs dynamic monitoring.

Digital technologies have become an integral part of complete denture restoration. With advancement in computer-aided design and computer-aided manufacturing (CAD/CAM), tools such as intraoral scanning, facial scanning, 3D printing, and numerical control machining are reshaping the workflow of complete denture restoration. Unlike conventional methods that rely heavily on clinical experience and manual techniques, digital technologies offer greater precision, predictability, and efficacy. They also streamline the process by reducing the number of patient visits and improving overall comfort. Despite these improvements, the clinical application of digital complete denture restoration still faces challenges that require further standardization. The major issues include appropriate case selection, establishing consistent digital workflows, and evaluating long-term outcomes. To address these challenges and provide clinical guidance for practitioners, this expert consensus outlines the principles, advantages, and limitations of digital complete denture technology. The aim of this review was to offer practical recommendations on indications, clinical procedures and precautions, evaluation metrics, and outcome assessment to support digital restoration of complete denture in clinical practice.
Humans ; Denture, Complete ; Computer-Aided Design ; Denture Design/methods* ; Consensus ; Printing, Three-Dimensional

The paper reports a case of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom. The boy developed unexplained nocturnal enuresis with frequent daytime urination since the age of 6. Fabry disease was detected and diagnosed by chance through high-risk screening. The activity of α-galactosidase A by dry blood spot was 1.97 μmol·L -1·h -1 , and there was c.640-801G>A mutation in GLA gene. Urine routine, urinary microprotein and renal function were normal. However, there were mulberry bodies found in urine deposition microscopy, suggesting the presence of kidney injury. This case suggests that enuresis can be the first symptom of Fabry disease, and mulberry bodies can be seen in the urine at the early stage of the disease.

Objective:To develop CNN-Dinov2, a deep learning-based automatic classification model for Gram-stained images, enabling rapid diagnosis of three prevalent Gram-negative bacilli in bloodstream infections: Escherichia coli ( E.coli), Klebsiella pneumoniae ( K.pneumoniae), and Pseudomonas aeruginosa ( P.aeruginosa). Methods:This evaluation study analyzed 1 425 Gram-stained microscopic images from patients with bloodstream infections at Houjie Hospital, in Dongguan City, collected between January 2023 and January 2024. The images, all positive for blood culture and identified as target strains, were categorized into Escherichia coli (419 images), Klebsiella pneumoniae (411 images), Pseudomonas aeruginosa (413 images), and other Gram-negative bacilli (182 images). They were randomly split into a training set (1 141 images), a validation set (141 images), and a test set (143 images) in an 8∶1∶1 ratio. A hybrid CNN-Dinov2 model was developed by integrating ResNet′s local feature extraction with Dinov2′s global pre-trained features, followed by a fully connected layer. The model was optimized by inputting the preprocessed images and adjusting parameters through loss calculation and backpropagation. AlexNet, Dinov2, and ResNet18 served as control models. The models′ classification performance was assessed using accuracy, precision, weighted F1 score, and recall rate, derived from the confusion matrix. The PR curve and AP value further evaluated each model′s classification capability across the four image categories. Results:The CNN-Dinov2 model achieved a training accuracy of 99.74%, a validation accuracy of 98.12%, and a validation loss of 0.070 6, demonstrating robust generalization without overfitting. Validation metrics revealed superior performance with an accuracy of 98.60%, precision of 98.65%, a weighted F1 score of 98.60%, and a recall rate of 98.60%, outperforming other models. The confusion matrix confirmed its strong classification capability, with the highest sum of diagonal values for identifying four types of bacteria. The macro average precision (AP) values under the precision-recall (PR) curves were all 1, indicating excellent discrimination across all categories. Overall, the CNN-Dinov2 model exhibited the best performance among the four models evaluated.Conclusion:This study successfully developed CNN-Dinov2, an automated classification model for Gram staining images. It offers valuable support for the rapid diagnosis of bloodstream infections caused by Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa, demonstrating practical utility.

The paper reports a case of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom. The boy developed unexplained nocturnal enuresis with frequent daytime urination since the age of 6. Fabry disease was detected and diagnosed by chance through high-risk screening. The activity of α-galactosidase A by dry blood spot was 1.97 μmol·L -1·h -1 , and there was c.640-801G>A mutation in GLA gene. Urine routine, urinary microprotein and renal function were normal. However, there were mulberry bodies found in urine deposition microscopy, suggesting the presence of kidney injury. This case suggests that enuresis can be the first symptom of Fabry disease, and mulberry bodies can be seen in the urine at the early stage of the disease.

Objective:To develop CNN-Dinov2, a deep learning-based automatic classification model for Gram-stained images, enabling rapid diagnosis of three prevalent Gram-negative bacilli in bloodstream infections: Escherichia coli ( E.coli), Klebsiella pneumoniae ( K.pneumoniae), and Pseudomonas aeruginosa ( P.aeruginosa). Methods:This evaluation study analyzed 1 425 Gram-stained microscopic images from patients with bloodstream infections at Houjie Hospital, in Dongguan City, collected between January 2023 and January 2024. The images, all positive for blood culture and identified as target strains, were categorized into Escherichia coli (419 images), Klebsiella pneumoniae (411 images), Pseudomonas aeruginosa (413 images), and other Gram-negative bacilli (182 images). They were randomly split into a training set (1 141 images), a validation set (141 images), and a test set (143 images) in an 8∶1∶1 ratio. A hybrid CNN-Dinov2 model was developed by integrating ResNet′s local feature extraction with Dinov2′s global pre-trained features, followed by a fully connected layer. The model was optimized by inputting the preprocessed images and adjusting parameters through loss calculation and backpropagation. AlexNet, Dinov2, and ResNet18 served as control models. The models′ classification performance was assessed using accuracy, precision, weighted F1 score, and recall rate, derived from the confusion matrix. The PR curve and AP value further evaluated each model′s classification capability across the four image categories. Results:The CNN-Dinov2 model achieved a training accuracy of 99.74%, a validation accuracy of 98.12%, and a validation loss of 0.070 6, demonstrating robust generalization without overfitting. Validation metrics revealed superior performance with an accuracy of 98.60%, precision of 98.65%, a weighted F1 score of 98.60%, and a recall rate of 98.60%, outperforming other models. The confusion matrix confirmed its strong classification capability, with the highest sum of diagonal values for identifying four types of bacteria. The macro average precision (AP) values under the precision-recall (PR) curves were all 1, indicating excellent discrimination across all categories. Overall, the CNN-Dinov2 model exhibited the best performance among the four models evaluated.Conclusion:This study successfully developed CNN-Dinov2, an automated classification model for Gram staining images. It offers valuable support for the rapid diagnosis of bloodstream infections caused by Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa, demonstrating practical utility.

Objective:To explore the clinical and genetic characteristics of a child with mental retardation, language and motor developmental delay and epilepsy.Methods:A Child who was admitted to the First Affiliated Hospital of Zhengzhou University in March 2020 for intermittent seizures for over two months was Selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to high throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The clinical manifestations of the child have included mental retardation, language and motor developmental delay, and seizures. High-throughput sequencing revealed that he has harbored a hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene, which was inherited from his mother and unreported previously. Conclusion:The hemizygous splice site variant (NM_032591.3: c. 1030-1G>C) of the SLC9A7 gene probably underlay the disease in this child. Above finding has provided a basis for clinical diagnosis and genetic counseling.

Objective To investigate the effects of transcutaneous electrical acupoint stimulation at Neiguan combined with Danzhong on intraoperative remifentanil dosage and early postoperative pain in pa-tients undergoing radical mastectomy.Methods A total of 153 female patients undergoing radical mastecto-my under general anaesthesia aged 18-64 years,BMI 18.5-30.0 kg/m2 and ASA physical status Ⅰ or Ⅱwere enrolled.The patients were randomly assigned into three groups:single-acupoint(Neiguan)group,dual-acupoint(Neiguan and Danzhong)group and control group,51 patients in each group.TEAS for 30 minutes at different points(Neiguan combined with Danzhong for the dual-acupoint group,Neiguan for the single-acupoint group,no stimulation for the sham group)were given before anaesthesia induction.30 mi-nutes of disperse/dense stimulation of 2/10 Hz with an intensity of 4-11 mA was used.The consumption of remifentanil,time to recall and to extubation were recorded.The visual analogue scale(VAS)pain score in PACU and 24 hours after surgery,and patient satisfaction scores was recorded.Results The intra-operative remifentanil consumption in the dual-acupoint group was significantly less than groups single-acupoint and sham(P＜0.05).Patient satisfaction score 24 hours after surgery was significantly higher in the dual-acu-point group than those in groups single-acupoint and sham(P＜0.05).The VAS scores in PACU and 24 hours after surgery had no significantly differences among the three groups.Conclusion Compared with single-acupoint,stimulation at Neiguan combined with Danzhong in patients undergoing radical mastectomy induced stronger remifentanil-sparing effect and higher patients'satisfaction after radical mastectomy.

Objective To analyse the safety and feasibility of laparoscopic techniques in the treatment of elderly patients with acute intestinal obstruction.Methods A prospective two-center single-arm clinical study was conducted.A total of 441 patients with acute intestinal obstruction treated at the department of general surgery of Longyou County People's Hospital and Hospital Affiliated to Qinghai University from October 2017 to October 2021 and met the inclusion criteria were selected as study subjects.Among them,10 patients had chronic obstructive pulmonary disease(COPD)and were given mechanical ventilation,noninvasive ventilation,continuous low-flow oxygen inhalation,nebulization inhalation,and bronchodilator treatment after surgery.Twelve patients had chronic kidney disease(CKD)and were given hemodialysis treatment after surgery.All 441 patients underwent laparoscopic exploration,small intestine decompression,and definitive surgery.After surgery,they received intravenous nutrition,antibiotics,and subcutaneous injection of low-molecular-weight heparin(10 U/kg).The blood gas analysis(for patients with COPD),renal function(for patients with CKD),weight,body mass index(BMI),complications,and prognosis were observed before surgery,after surgery,and at discharge.Results There were 441 elderly patients with intestinal obstruction in the study,including 240 males and 201 females.The mean duration of the disease was(74.2±6.4)hours,and the BMI was(25.4±6.7)kg/m2.A total of 280 patients with adhesions underwent adhesion lysis surgery,while 87 patients with small bowel necrosis and 19 patients with small bowel lipoangiomatosis underwent small bowel resection and anastomosis.Additionally,21 patients with obturator hernia underwent hernia repair surgery,and 34 patients with small bowel persimmon stones underwent small bowel incision and stone removal surgery.For the 10 patients with COPD,there was a significant increase in arterial partial pressure of oxygen[PaO2 mmHg(1 mmHg≈0.133 kPa):80.3±3.3 vs.72.6±2.7,P<0.01],and a significant decrease in arterial partial pressure of carbon dioxide(PaCO2)compared to preoperative levels(mmHg:35.7±3.6 vs.47.6±1.3,P<0.01).Four patients died of type Ⅱ respiratory failure,and 6 patients had a significant decrease in PaO2[(77.4±6.7)mmHg]and a significant increase in PaCO2[(42.1±5.2)mmHg]at discharge compared to postoperative levels(both P<0.01).Among the 12 patients with CKD,both blood urea nitrogen(BUN)and serum creatinine(SCr)increased significantly after surgery compared to preoperative levels[BUN(μmol/L):79.5±8.5 vs.18.8±4.7,SCr(μmol/L):312.7±12.1 vs.138.4±9.7,both P<0.01].Two patients died of renal failure,and 8 patients had a significant decrease in BUN[(9.2±0.7)μmol/L]and SCr[(112.5±3.8)μmol/L]at discharge compared to postoperative levels(both P<0.01).There were no significant differences in BMI and weight between preoperative,postoperative,and discharge times[BMI(kg/m2):25.4±6.7,24.9±3.9 vs.23.9±3.5;weight(kg):74.2±6.8,73.7±3.3 vs.72.8±4.6;all P>0.05].A total of 435 patients recovered from acute intestinal obstruction with no complications such as lower extremity venous thrombosis,intestinal fistula,wound dehiscence,or wound infection.Conclusion The strategy of treating elderly patients with acute intestinal obstruction by laparoscopic exploration,intestinal decompression,definitive surgery,treatment of underlying diseases,and subcutaneous injection of low-molecular-weight heparin is safe and feasible.

Myocardial infarction caused by myocardial ischemia can lead to the loss of cardiomyocytes, resulting in the replacement of the myocardial infarction area with scar tissue and ultimately leading to heart failure. However, the treatment options are currently very limited. Currently, myocardial patch therapy is a promising strategy for treating severe myocardial infarction. This approach is based on engineering principles and involves combining seed cells or biological active substances with suitable scaffold materials to construct biomaterials that can be used for transplantation, repair, or replacement of autologous myocardium. The biomaterial scaffolds for engineered myocardial patches are usually prepared by means of acellular matrix, electrospinning technology, 3D biological printing, hydrogel, cell patch and other methods. In this paper, the preparation methods of myocardial patches and their application progress in myocardial infarction treatment are reviewed.