Objective:To evaluate the therapeutic efficacy of an upper limb rehabilitation robot on the recovery of elbow function recovery following arthroscopic elbow joint release.Methods:Seventy-two patients who underwent arthroscopic elbow joint release at Shanghai Sixth People’s Hospital from December 2022 to December 2023 were recruited. All patients were randomly assigned to either the conventional group (n=36; 16 males, 20 females; age 34.39±9.04 years, range 24-56; fractures: 4 intercondylar humerus, 18 olecranon, 8 radial head, 6 other) which received conventional rehabilitation postoperatively, or the robot-assisted group (n=36; 18 males, 18 females; age 33.78±9.98 years, range 20-59; fractures distribution identical to the conventional group) receiving conventional rehabilitation combined with robot-assisted upper limb rehabilitation therapy. The active range of motion (ROM) of elbow joint, Mayo elbow performance score (MEPS), visual analogue scale (VAS) of elbow joint were recorded preoperatively and at 4 weeks and 3 months postoperatively. The surface electromyography were analyzed at 3 months postoperatively.Results:All patients completed the 3-month rehabilitation program. At 4 weeks postoperatively, the conventional group exhibited a mean active ROM of 106.78°±9.91°, MEPS of 67.78±7.68, VAS of 2.11±0.74; the robot-assisted group showed active ROM of 113.72°±7.06°, MEPS of 73.33±9.28, VAS of 21.89±0.46. By 3 months postoperatively, the conventional group achieved a mean active ROM of 118.11°±6.75°, MEPS of 85.00±8.66, VAS of 0.67±0.67; robot-assisted achieved a mean active ROM of 127.61°±6.61°, MEPS of 91.11±6.57, VAS of 0.39±0.49. Both groups exhibited significant improvements in active ROM and MEPS, and significant reductions in VAS scores at 4 weeks and 3 months postoperatively compared with preoperatively values ( P<0.05). The robot-assisted group demonstrated significantly higher active ROM and MEPS at both 4 weeks and 3 months postoperatively, and a significantly lower VAS score at 3 months postoperatively, compared with the conventional group ( P<0.05). Surface electromyography at 3 months revealed significantly higher biceps brachii root mean square and significantly lower co-contraction index in the robot-assisted group compared to the conventional group ( P<0.05). No adverse symptoms were reported in the treated elbows of either group during the operation and follow-up period. Conclusion:The integration of upper limb rehabilitation robot-assisted therapy and conventional rehabilitation program significantly enhances the recovery of elbow range of motion and functional outcomes at 3 months following arthroscopic elbow joint release.

Objective:To explore the genetic basis for a girl with primary microcephaly and growth retardation.Methods:A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278).Results:DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c. 2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. Conclusion:Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.

Objective:To observe the high-frequency ultrasound characteristics of the median nerve（MN）in patients with acromegaly，and to investigate the clinical value of multiparameter quantitative ultrasound for noninvasive assessment of carpal tunnel syndrome（CTS）in acromegalic patients.Methods:A total of 132 acromegalic patients due to pituitary growth hormone tumors in Huashan Hospital during July 2023 to September 2024 including initial patients and postoperative revisions were prospectivly collected. The patients were divided into no neurological symptoms group（ n=51）and clinical CTS group（ n=81）based on the Boston Carpal Tunnel Questionnaire. All patients underwent bilateral MN ultrasonography，the ultrasound parameters included the cross-sectional area（CSA）of MN at the entrance of carpal tunnel，the maximum CSA of MN in carpal tunnel，the maximum and minimum thickness of MN in carpal tunnel，CSA of MN at forearm 1/3，soft tissue thickness at the wrist，CSA of MN at elbow transverse stripe，blood flow signals within the MN at the carpal tunnel，ratio of the CSA（CSA of MN at the entrance of carpal tunnel/ CSA of MN at forearm 1/3），ratio of thickness（maximum / minimum thickness of MN in carpal tunnel）. Differences in general information，clinical indicators and ultrasound parameters were analyzed between the two groups. The diagnostic model was established with ultrasound parameters and clinical indicators using univariate and multivariate logistic analyses in a training cohort of 106 patients，to predict CTS within acromegaly. And ROC curve was used to evaluate the efficacy of the model in a test cohort of 26 patients with neurophysiological examination data. Results:Patients in clinical CTS group were older，with longer disease duration，higher levels of growth hormone 25-hydroxyvitamin D 3 and insulin-like growth factor-1 and were more likely to have impaired glucose tolerance relative to the no neurologic symptoms group（all P < 0.05）. Comparison between the two groups revealed significant differences in all ultrasound parameters：the CSA at the entrance of the MN carpal tunnel，the 1/3 of the forearm and the elbow were larger than the no neurological symptoms group（all P < 0.001），and the MN thickness ratio was greater observably in the clinical CTS group（ P < 0.001）. Greater thickness of the soft tissue at wrist and more blood flow signals in MN in carpal tunnel were revealed in clinical CTS group patients（ P < 0.001）.Combining the results of multifactorial logistic analysis，the multiparametric ultrasound combined with clinical index diagnosing model based on the predicted disease duration，CSA of MN at the entrance of carpal tunnel，MN thickness ratio and soft tissue thickness at the carpal tunnel was established to diagnose CTS combined with acromegaly. The ROC curve was plotted in the test cohort and the area under the curve for this model was 0.894. Conclusions:High-frequency ultrasound is sensitive to observe MN changes in acromegalic patients and the combination of multiparametric ultrasound and clinical index is useful for the non-invasive diagnosis of acromegalic patients with CTS.

Objective Currently, there is no commercially available quantitative detection kit for the main Felis domestic allergen (Fel d 1) in China. To establish a rapid detection method for Fel d 1, this study aims to prepare monoclonal antibodies against Fel d 1 protein. Methods The codon preference of Escherichia coli was utilized to optimize and synthesize the Fel d 1 gene. The prokaryotic expression plasmid pET-28a-Fel d 1 was constructed and used to express and purify the recombinant Fel d 1 protein. Subsequently, the recombinant protein was immunized into BALB/c mice and monoclonal antibodies (mAbs) were prepared by the hybridoma technique. An indirect ELISA was established using the recombinant Fel d 1 as the coating antigen, and hybridoma cell lines were screened for positive clones. The specificity and antigenic epitopes of the mAbs were confirmed by Western blot analysis. Finally, the selected hybridoma cells were injected into the peritoneal cavities of BALB/c mice for large-scale monoclonal antibody production. Results The recombinant plasmid pET-28a-Fel d 1 was successfully constructed, and soluble Fel d 1 protein was obtained after optimizing the expression conditions. Western blot and antibody titer assays confirmed the successful isolation of two hybridoma cell lines, 7D11 and 5H4, which stably secreted mAbs specific to Fel d 1. Antibody characterization revealed that the 5H4 mAb was of the IgG2a subtype and could recognize the amino acid region 105-163 of Fel d 1, while the 7D11 mAb was the IgG1 subtype and could recognize the amino acid region 1-59. Conclusion The high-purity recombinant Fel d 1 protein produced in this study provides a promising alternative for clinical immunotherapy of cat allergies. Furthermore, the monoclonal antibody prepared in this experiment lays a material foundation for the in-depth study of the biological function of Fel d 1 and the development of ELISA detection.
Animals ; Antibodies, Monoclonal/biosynthesis* ; Mice, Inbred BALB C ; Cats ; Mice ; Allergens/genetics* ; Glycoproteins/genetics* ; Enzyme-Linked Immunosorbent Assay ; Hybridomas/immunology* ; Recombinant Proteins/genetics* ; Female ; Antibody Specificity

Objective:To evaluate the therapeutic efficacy of an upper limb rehabilitation robot on the recovery of elbow function recovery following arthroscopic elbow joint release.Methods:Seventy-two patients who underwent arthroscopic elbow joint release at Shanghai Sixth People’s Hospital from December 2022 to December 2023 were recruited. All patients were randomly assigned to either the conventional group (n=36; 16 males, 20 females; age 34.39±9.04 years, range 24-56; fractures: 4 intercondylar humerus, 18 olecranon, 8 radial head, 6 other) which received conventional rehabilitation postoperatively, or the robot-assisted group (n=36; 18 males, 18 females; age 33.78±9.98 years, range 20-59; fractures distribution identical to the conventional group) receiving conventional rehabilitation combined with robot-assisted upper limb rehabilitation therapy. The active range of motion (ROM) of elbow joint, Mayo elbow performance score (MEPS), visual analogue scale (VAS) of elbow joint were recorded preoperatively and at 4 weeks and 3 months postoperatively. The surface electromyography were analyzed at 3 months postoperatively.Results:All patients completed the 3-month rehabilitation program. At 4 weeks postoperatively, the conventional group exhibited a mean active ROM of 106.78°±9.91°, MEPS of 67.78±7.68, VAS of 2.11±0.74; the robot-assisted group showed active ROM of 113.72°±7.06°, MEPS of 73.33±9.28, VAS of 21.89±0.46. By 3 months postoperatively, the conventional group achieved a mean active ROM of 118.11°±6.75°, MEPS of 85.00±8.66, VAS of 0.67±0.67; robot-assisted achieved a mean active ROM of 127.61°±6.61°, MEPS of 91.11±6.57, VAS of 0.39±0.49. Both groups exhibited significant improvements in active ROM and MEPS, and significant reductions in VAS scores at 4 weeks and 3 months postoperatively compared with preoperatively values ( P<0.05). The robot-assisted group demonstrated significantly higher active ROM and MEPS at both 4 weeks and 3 months postoperatively, and a significantly lower VAS score at 3 months postoperatively, compared with the conventional group ( P<0.05). Surface electromyography at 3 months revealed significantly higher biceps brachii root mean square and significantly lower co-contraction index in the robot-assisted group compared to the conventional group ( P<0.05). No adverse symptoms were reported in the treated elbows of either group during the operation and follow-up period. Conclusion:The integration of upper limb rehabilitation robot-assisted therapy and conventional rehabilitation program significantly enhances the recovery of elbow range of motion and functional outcomes at 3 months following arthroscopic elbow joint release.

OBJECTIVE: To explore the genetic basis for a girl with primary microcephaly and growth retardation. METHODS: A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278). RESULTS: DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c.2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. CONCLUSION Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.
Female ; Humans ; Cell Cycle Proteins ; Heterozygote ; Microcephaly/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree

Objective:To explore the genetic basis for a girl with primary microcephaly and growth retardation.Methods:A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278).Results:DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c. 2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. Conclusion:Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.

Objective:To observe the high-frequency ultrasound characteristics of the median nerve（MN）in patients with acromegaly，and to investigate the clinical value of multiparameter quantitative ultrasound for noninvasive assessment of carpal tunnel syndrome（CTS）in acromegalic patients.Methods:A total of 132 acromegalic patients due to pituitary growth hormone tumors in Huashan Hospital during July 2023 to September 2024 including initial patients and postoperative revisions were prospectivly collected. The patients were divided into no neurological symptoms group（ n=51）and clinical CTS group（ n=81）based on the Boston Carpal Tunnel Questionnaire. All patients underwent bilateral MN ultrasonography，the ultrasound parameters included the cross-sectional area（CSA）of MN at the entrance of carpal tunnel，the maximum CSA of MN in carpal tunnel，the maximum and minimum thickness of MN in carpal tunnel，CSA of MN at forearm 1/3，soft tissue thickness at the wrist，CSA of MN at elbow transverse stripe，blood flow signals within the MN at the carpal tunnel，ratio of the CSA（CSA of MN at the entrance of carpal tunnel/ CSA of MN at forearm 1/3），ratio of thickness（maximum / minimum thickness of MN in carpal tunnel）. Differences in general information，clinical indicators and ultrasound parameters were analyzed between the two groups. The diagnostic model was established with ultrasound parameters and clinical indicators using univariate and multivariate logistic analyses in a training cohort of 106 patients，to predict CTS within acromegaly. And ROC curve was used to evaluate the efficacy of the model in a test cohort of 26 patients with neurophysiological examination data. Results:Patients in clinical CTS group were older，with longer disease duration，higher levels of growth hormone 25-hydroxyvitamin D 3 and insulin-like growth factor-1 and were more likely to have impaired glucose tolerance relative to the no neurologic symptoms group（all P < 0.05）. Comparison between the two groups revealed significant differences in all ultrasound parameters：the CSA at the entrance of the MN carpal tunnel，the 1/3 of the forearm and the elbow were larger than the no neurological symptoms group（all P < 0.001），and the MN thickness ratio was greater observably in the clinical CTS group（ P < 0.001）. Greater thickness of the soft tissue at wrist and more blood flow signals in MN in carpal tunnel were revealed in clinical CTS group patients（ P < 0.001）.Combining the results of multifactorial logistic analysis，the multiparametric ultrasound combined with clinical index diagnosing model based on the predicted disease duration，CSA of MN at the entrance of carpal tunnel，MN thickness ratio and soft tissue thickness at the carpal tunnel was established to diagnose CTS combined with acromegaly. The ROC curve was plotted in the test cohort and the area under the curve for this model was 0.894. Conclusions:High-frequency ultrasound is sensitive to observe MN changes in acromegalic patients and the combination of multiparametric ultrasound and clinical index is useful for the non-invasive diagnosis of acromegalic patients with CTS.

Patent foramen ovale(PFO)is a common congenital heart disease,also an important cause of various clinical diseases.The morphological and alterations of atrial structure and function associated with PFO often impact prognosis of PFO.Echocardiography can be used for diagnosing PFO,while a series of new ultrasound technology can provide more sensitive indicators compared to conventional parameters,which enable early detection of changes of cardiac function caused by PFO.The progresses of echocardiography and corresponding new technologies for evaluating morphological features of PFO and related left atrial function caused by PFO were reviewed in this article.

Objective To investigate the effects of Huangqin Qingrechubi Capsule(HQC)on inflammation and uric acid and lipid metabolism in rats with gouty arthritis(GA)and its mechanism.Methods SD rat models of GA established by injecting monosodium urate into the right ankle joint were treated with saline,colchicine and HQC at low,medium and high doses(n=10)by gavage for 7 days.Toe swelling of the rats was detected at 4,8,24,48 and 72 h after modeling,and synovial histological changes were observed with HE staining.Serum levels of interleukin-10(IL-10),IL-18,tumor necrosis factor-α(TNF-α),transforming growth factor-β1(TGF-β1),adiponectin,leptin,resistin and visfatin were measured by ELISA,and the levels of high-density lipoprotein cholesterol(HDL-C),triglyceride(TG),total cholesterol(TC),and uric acid(BUA)were detected.RT-qPCR and Western blotting were used to detect the mRNA expressions of phosphatase and tensin homolog(PTEN),phosphatidylinositol-3-kinase(PI3K)and protein kinase B(AKT)and the protein expressions of PTEN,PI3K,p-PI3K,AKT and p-AKT.Results The rat models of GA showed obvious toe swelling,which reached the peak level at 48 h.HE staining revealed massive inflammatory cell infiltration and synovial tissue hyperplasia.The rat models showed significantly increased expressions of TNF-α,TGF-β1,IL-18,TC,TG,leptin,resistin and visfatin,BUA,p-PI3K,and p-AKT and lowered levels of IL-10,APN,HDL-C,and PTEN.Treatment with HQC and colchicine obviously improved these changes and alleviated synovial pathologies and toe swelling in the rat models.Conclusion HQC can improve inflammation and correct the imbalance of uric acid and lipid metabolism in GA rats possibly by inhibiting the PTEN/PI3K/AKT signaling pathway.