OBJECTIVE: To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. METHODS: Four patients diagnosed with PMS at Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Hospital (Ethics No. 2025-007). RESULTS: All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 Kb to 112.64 Kb, primarily involving the SHANK3 gene. CONCLUSION PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.
Child ; Humans ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Exome Sequencing ; Nerve Tissue Proteins/genetics* ; Phenotype

Objective:To compare the efficacy of medial patellofemoral ligament (MPFL) reconstruction using single half tunnel, double half curved tunnel and suture anchor fixation in the treatment of patellar dislocation.Methods:A retrospective cohort study was used to analyze the clinical data of 58 patients with patellar dislocation treated in Second Hospital of Lanzhou University from June 2018 to February 2021, including 22 males and 36 females, aged 12-34 years [(19.6±5.5)years]. MPFL reconstruction was performed arthroscopically using single half tunnel fixation in 20 patients (single half tunnel group), double half curved tunnel fixation in 18 (double half curved tunnel group) and suture anchor fixation in 20 (suture anchor group). The Lysholm score, International Knee Documentation Committee (IKDC) score and Tegner activity score were compared among groups before operation, at 3 months after operation and at the last follow-up. The knee range of motion was compared among the three groups at 3 months after operation and at the last follow-up. The postoperative complications of the three groups were observed at the last follow-up.Results:All patients were followed up for 9-39 months [(26.5±9.1)months]. In single half tunnel group, double half curved tunnel group and suture anchor group, the Lysholm score was (78.4±12.0)points, (88.7±7.5)points and (81.1±9.8)points at 3 months after operation, and (80.4±14.2)points, (90.9±9.0)points and (83.3±9.1)points at the last follow-up. The postoperative Lysholm score in all groups was significantly increased from that preoperatively (all P<0.01). The Lysholm score in double half curved tunnel group was significantly higher than that in other two groups at 3 months after operation and at last follow-up (all P<0.05), but there was no significant difference between other groups (all P>0.05). In single half tunnel group, double half curved tunnel group and suture anchor group, the IKDC score was (76.7±12.2)points, (78.4±8.9)points and (81.0±8.1)points at 3 months after operation, and (77.6±15.8)points, (83.2±7.8)points and (82.4±12.4)points at the last follow-up. The postoperative IKDC score in all groups was significantly increased from that preoperatively (all P<0.01), but there was no significant difference among the three groups (all P>0.05). In single half tunnel group, double half curved tunnel group and suture anchor group, the Tegner score was (4.0±1.2)points, (5.4±1.7)points and (5.3±1.7)points at 3 months after operation, and (4.1±1.4)points, (5.8±1.8)points and (5.3±2.2)points at the last follow-up. The postoperative Tegner score in all groups was significantly improved from that preoperatively (all P<0.01). The Tegner score in single half tunnel group was significantly lower than that in other two groups at 3 months after operation and at last follow-up (all P<0.05), but there was no significant difference between other groups (all P>0.05). In single half tunnel group, double half curved tunnel group and suture anchor group, the knee range of motion was (122.3±6.4)°, (121.7±7.1)° and (123.3±5.7)° at the last follow-up, which were significantly increased from (117.3±8.0)°, (115.3±7.9)° and (116.8±8.3)° at 3 months after operation (all P<0.05), with no significant difference among the three groups (all P>0.05). The postoperative complication rate was 10.0% (2/20) in single half tunnel group, 5.6% (1/18) in double half curved tunnel group, and 25.0% (5/20) in suture anchor group ( P>0.05). Conclusions:For patellar dislocation, MPFL reconstruction using single half tunnel, double half curve tunnel and suture anchor fixation have achieved satisfactory improvement of knee range of motion, but knee functional recovery is much better after double half curved tunnel fixation.

ObjectiveTo conduct a systematic review of the susceptibility gene polymorphism sites of primary knee osteoarthritis (PKO). MethodsThe literature on genetic susceptibility and gene polymorphisms of PKO were retrieved from PubMed, Web of Science, CNKI, Wanfang Data, and China Biomedical Literature Database from establishment of the library to December, 2020, and systematically reviewed. ResultsA total of 42 papers on the polymorphism sites of human PKO susceptibility genes were included, involving cellular signaling pathways related to PKO pathogenesis, including inflammatory response, receptor signaling pathway, transcription factor signaling pathway, bone-related signaling pathway, etc. Multiple gene polymorphism sites located in inflammatory factor genes, chemokine genes, Toll-like receptor genes, transcription factor genes, obesity-related genes, and bone-related genes. ConclusionInflammatory factor genes and bone-associated allele polymorphisms are likely to be related to PKO susceptibility.

Objective:To discuss the clinical curative effect of the minimally invasive percutaneous suture technique of eight times for repairing closed injury extensor tendon zone I of finger.Methods:From February 2017 to January 2020, 12 patients (male 8, female 4) with mallet finger deformity were retrospectively studied, with an average age of 35 years (range, 18-50 years). And all the affected fingers were acute closed rupture of extensor tendon in zone I of single finger, 5 cases of the left finger and 7 cases of the right finger. There were 1 case of the thumb finger, 2 cases of the index finger, 3 cases of the middle finger, 4 cases of the ring finger and 2 cases of the little finger. 12 patients with fresh sputum mallet fingers were with 3-0 thread monofilament suture on extensor tendon zone I of finger in the minimally invasive percutaneous suture technique of eight times, and the distal end of the tendon was fixed to the base of the distal phalanx through the bone hole. Removal of the Kirschner wire 6-8 weeks, the brace was used to fix the affected finger in the dorsal extension. The flexion and extension of the affected finger was gradually strengthened. The function of the affected finger was evaluated according to the Crawford standard after operation and follow-up. The active flexion and extension range of motion of each joint of the affected finger and the contralateral healthy finger were measured, and the total action movement (TAM) of the finger were recorded. Finger function was evaluated according to TAM of the American Association of Hand Surgeons.Results:All operations were successfully completed, the operation time of the patients ranged from 18 to 25 min, with an average of 20.1±0.2 min. There was only a small amount of bleeding in the surgery. All 12 cases were followed up and the follow-up periods ranged from 6 to 14 months, with an average of 10.2±1.1 months. Mallet finger deformities were all corrected postoperatively; there were no knot exposure, skin necrosis and other complications. According to the Crawford standard, 9 cases were excellent, 2 cases were good, and 1 case was fair. The excellent and good rate was 91.7% (11/12). The mean active flexion of distal interphalangeal joints on the wounded finger and healthy finger were 82.11°±2.02° and 84.09°±2.01°, the mean active extension of distal interphalangeal joints on the wounded finger and healthy finger were -2.04°±3.01° and 0.02°±1.02°, there were significant differences between them ( t=2.447, 3.246; P=0.019, 0.004). The degrees of active joint activity of wounded finger were: 91.02°±4.01° of the metacar-pophalangeal joint, 94.04°±2.11° of the proximal interphalangeal joint, 83.01°±2.02° of the distal interphalangeal joint, and 265.05°±13.04° of total active activity; the degrees of active joint activity of healthy finger were: 93.01°±3.21° of the metacar-pophalangeal joint, 94.03°±3.07° of the proximal interphalangeal joint, 85.02°±2.01° of the distal interphalangeal joint, and 269.02°±12.10° of total active activity. The TAMs of the healthy side were 269.02°±12.10°, and the TAMs of the affected side were 265.05°±13.04°, there was no significant difference between them ( P>0.05). According to TAM system assessment criteria: excellent in 9 patients, good in 3 patients, and the excellent and good rate was 100% (12/12). Conclusion:The minimally invasive percutaneous suture technique of eight times can well repair closed injury extensor tendon zone I of finger, can have satisfactory treatment outcome in mallet finger with a simple procedure and good outcome. It is a simple, safe, effective method with minimal invasion.

Objective:To analyze the clinical data on hospitalized spinal cord injury patients with calf muscle vein thromboses (MCVTs) seeking prevention and treatment techniques.Methods:The medical records of 423 patients with spinal cord injury were collected. Those with MCVT constituted the observation group, while those without served as controls. Their clinical data were compared.Results:The risk factors for MCVT were screened in logistic regression analyses. The results showed that age, an ASIA grade of A or B, spinal fusion, preventive anticoagulation, physiotherapy treatment and a homocysteine level >15μmol/L were risk factors for the occurrence of a MCVT.Conclusions:Age, an ASIA grade of A or B, spinal fusion or an elevated serum homocysteine level are all risk factors for MCVT. Active anticoagulation and physical therapy may reduce the risk.

OBJECTIVES: Cough variant asthma (CVA) is the main cause of obstinate cough. This study aimed to observe the therapeutic effect of Xiaochuan pill on CVA in a rat model, and to explore the mechanisms. METHODS: The rats were sensitized and challenged with 4% ovaibumin (OA) and 2% Al(OH) to establish the CVA models. They were treated with Xiaochuan pill (at the dose of 0.9, 1.8, 3.6 g/kg) or montelukast sodium once a day for 14 days. After 7 and 14 days of intervention, 5 and 10 rats were randomly selected from each group to collect bronchoalveolar lavage fluid (BALF), trachea, and lungs. The number of white blood cells (WBC) and eosinophils (EOS), and the levels of IL-1β, TNF- α, and IFN-γ in BALF were detected. Histopathological examination of lung tissue was performed to observe the histomorphological changes. The expressions of TLR4, MyD88, NF-κBp65, and p-p65 in lung tissue were detected by Western blotting. RESULTS: The numbers of WBC and EOS in BALF of CVA rats were significantly decreased by Xiaochuan pill (<0.05 or <0.01). The hyperplasia of tracheal, bronchial mucosa and the infiltration of inflammatory cells in lung were alleviated obviously. After 14 d of intervention, high dose of Xiaochuan pill significantly increased the level of IFN- γ (<0.01), reduced the levels of IL-1β (<0.05) and TNF-α (<0.05), and decreased the expressions of TLR4, MyD88, p65, and p-p65 (<0.05 or <0.01). CONCLUSIONS Xiaochuan pill exerts the significant therapeutic effect on obstinate cough in rats. The mechanism of action may be related to the regulation of TLR4-MyD88-NF-κBp65 signaling pathway as well as the inflammation and immune response.
Animals ; Cough ; Myeloid Differentiation Factor 88 ; NF-kappa B ; Rats ; Signal Transduction ; Toll-Like Receptor 4 ; Tumor Necrosis Factor-alpha

In recent years, wearable devices grew up gradually and developed increasingly. Aiming at the problems of skin sensibility and the change of electrode impedance of Ag/AgCl electrode in the process of long-term electrocardiogram (ECG) signal monitoring and acquisition, this paper discussed in detail a new sensor technology-fabric electrode, which is used for ECG signal acquisition. First, the concept and advantages of fabric electrode were introduced, and then the common substrate materials and conductive materials for fabric electrode were discussed and evaluated. Next, we analyzed the advantages and disadvantages from the aspect of textile structure, putting forward the evaluation system of fabric electrode. Finally, the deficiencies of fabric electrode were analyzed, and the development prospects and directions were prospected.

Necrosis is a form of cell death, which is related to various serious diseases such as cardiovascular disease, cancer, and neurodegeneration. Necrosis-avid agents (NAAs) selectively accumulated in the necrotic tissues can be used for imaging and/or therapy of related diseases. The aim of this study was to preliminarily investigate necrosis avidity of I-evans blue (I-EB) and its mechanism. The biodistribution of I-EB at 24 h after intravenous administration showed that the radioactivity ratio of necrotic to viable tissue was 3.41 in the liver and 11.82 in the muscle as determined by counting in model rats. Autoradiography and histological staining displayed preferential uptake of I-EB in necrotic tissues. nuclear extracts from necrotic cells exhibited 82.3% of the uptake in nuclei at 15 min, as well as 79.2% of the uptake at 2 h after I-EB incubation. The DNA binding study demonstrated that evans blue (EB) has strong binding affinity with calf-thymus DNA (CT-DNA) (=5.08×10 L/(mol/L)). Furthermore, the accumulation of I-EB in necrotic muscle was efficiently blocked by an excess amount of unlabeled EB. In conclusion, I-EB can not only detect necrosis by binding the DNA released from necrotic cells, but also image necrotic tissues generated from the disease clinically.

Objective A finite element analysis was conducted on the biomechanics of the locking plate and intramedullary nail fixation for the treatment of distal tibial fractures,and the resuhs were verified combined with clinical cases,so as to provide references for clinical treatment.Methods (1) Finite element analysis:the three-dimensional CT data of the lower limbs of a healthy male volunteer were used to establish a finite element model.The internal stress distribution of the tibial plateau was set to 60％ of the total load by intramedullary nail and locking plate respectively,and the tibia end was fixed effectively.400 N axial pressure load which equaled to that of adult knee joint during single axis standing was simulated.The equivalent stress and displacement of the model by different fixations were compared.(2) Clinical verification:a retrospective case control study was performed on the clinical data of 37 cases of distal tibia1 fractures treated with internal fixation from June 2015 to December 2016,including 17 cases in intramedullary nail group and 20 in locking plate group.The operation time,intraoperative blood loss,postoperative fracture healing time,and postoperative Johner-Wruhs score of patients were recorded for comprehensive assessment of recovery.Results (1) The finite element analysis results:the maximum stress value was 5.907 MPa for intramedullary nail and 5.821 MPa for locking plate model (P ＞0.05),respectively.The maximum displacement of intramedullary nail model was 2.313 mm,lower than that of locking plate fixation system (3.854 rmm) (P ＜ 0.05).(2) Clinical verification:the operation time and intraoperative blood loss of intramedullary nail were both lower than those of locking plate [(114.1 ±21.6)minutes):(129.8±21.4)minutes and (152.9 ±64.88)ml:(212.5 ±98.5)ml](P ＜0.05).The average fracture healing time was (17.7 ± 2.8)weeks for intramedullary nail and (20.6 ± 4.1) weeks for locking plate (P ＜ 0.05),respectively.In the intramedullary nail group,the Johner Wruhs score was excellent in 13 cases and good in four cases,with excellent and good rate of 100％,while in the locking plate group,nine cases were excellent,eight were good,and three were fair,with excellent and good rate of 85％ (P ＞ 0.05).Conclusions In terms of biomechanics and clinical effect,intramedullary nail fixation is superior than the medial locking plate fixation for the treatment of the distal tibial fractures.Intramedullary nail fixation can reduce surgical trauma and bone displacement after fixation and promote fracture healing.

OBJECTIVETo analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy.

METHODSGenomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination.

RESULTSA heterozygous mutation (R124L) was found in exon 4 of the TGFBI gene among all patients from the family. The same mutation was not found among unaffected family members. The inheritance pattern of the family was identified as autosomal dominant, and the Reis-Bucklers corneal dystrophy in the family was diagnosed as the geographic type.

CONCLUSIONThe R124L mutation of the TGFBI gene probably underlies the pathogenesis of Reis-Bucklers corneal dystrophy in this Chinese family. Molecular genetic approach is useful for the proper diagnosis of this type of corneal dystrophy.

Corneal Dystrophies, Hereditary ; etiology ; genetics ; Female ; Humans ; Male ; Mutation ; Sequence Analysis, DNA ; Transforming Growth Factor beta1 ; genetics