Objective:To study the effects of epidermal growth factor(EGF)on the coordinated motor behaviors and changes of nigrostriatal dopaminergic system under the impact of EGF in middle-aged rats.Methods:Healthy aged Sprague Dawley(SD)rats were subcutaneously administered EGF(0.1 mg/ml)in the dorsal region for 7 days.Adhe-sive removal test,tapered beam walking test and descending a wire mesh pole test were performed to detect the changes in the coordinated motor behaviors of rats as well as changes in the expression of tyrosine hydroxylase(TH)and dopa-mine transporter(DAT)of nigrostriatal dopaminergic system in rats.Results:Middle-aged rats showed reduced behav-ioral parameters of adhesive removal test,tapered beam walking test and descending a wire mesh pole test compared with those of adult rats(P<0.05),which were improved after treatment with EGF(P<0.05).The expression of TH and DAT in nigrostriatal dopaminergic system was down-regulated in middle-aged rats compared with that in adult rats(P<0.01),however,which were up-regulated after treatment with EGF(P<0.01).Conclusion:EGF can amelio-rate the decline in coordinated motor behaviors and increases the activity of nigrostriatal dopaminergic system in middle-aged rats.

Objective:To improve the understanding of patients with diffuse large B-cell lymphoma (DLBCL) with pulmonary cryptococcosis.Methods:The clinical data of 1 DLBCL patient with pulmonary cryptococcosis in the Central Hospital of Fengxian District of Shanghai in May 2023 were retrospectively analyzed, and the relevant literatures were reviewed.Results:This 75-year-old female patient was asymptomatic after 2 cycles of R-CHOP chemotherapy. The high-resolution CT of lung showed that lung nodules were progressively enlarged. Antibacterial treatment was ineffective. Pulmonary cryptococcosis was confirmed by bronchoalveolar lavage fluid (BALF) targeted high-throughput sequencing (tNGS) and cryptococcus capsular antigen (CrAg) detection. The central nervous system was not involved. And the long-term adequate-dose fluconazole was prescribed for 6 months, and the treatment against lymphoma was given synchronously. The lung nodule lesions reduced after antifungal therapy for 1 month. The lung nodules disappeared after the follow-up of 6 months after completion of final chemotherapy. The evaluation of lymphoma indicated complete remission.Conclusions:Pulmonary cryptococcosis occurs insidiously and shows no specific symptoms; its imaging manifestations are variable and routine anti-infection is ineffective. Immunochemotherapy for lymphoma patients is a high-risk factor for cryptococcal infection. tNGS and CrAg testing for BALF are effective methods of the confirmed diagnosis. The early and long-term adequate-dose antifungal treatment is the key to preventing the recurrence or progression.

Objective To evaluate the value of ultrasound and magnetic resonance imaging(MRI)in the diagnosis of knee osteoarthritis(KOA)by Meta-analysis.Methods Multiple databases for literature on KOA ultrasound and MRI diagnosis were screened.After data extraction and study quality assessment,14 articles involving 1613 patients were finally included.Meta-analysis were used on the extracted data to comprehensively evaluate the effectiveness of ultrasound and MRI in the diagnosis of KOA.Results All included studies used arthroscopy or surgical pathology as the gold standard for diagnosis.The pooled sensitivity,specificity,and diagnostic odds ratio(DOR)for ultrasound in diagnosing KOA were 0.79,0.82,and 20.30,respectively,with area under the curve(AUC)was 0.89.In comparison,the pooled sensitivity,specificity,and DOR for MRI in diagnosing KOA were 0.88,0.85,and 42.35,respectively,with AUC of 0.92.Conclusion Ultrasound and MRI have good accuracy in the diagnosis of KOA,and MRI is superior to ultrasound.

Objective:To study the effects of epidermal growth factor(EGF)on the coordinated motor behaviors and changes of nigrostriatal dopaminergic system under the impact of EGF in middle-aged rats.Methods:Healthy aged Sprague Dawley(SD)rats were subcutaneously administered EGF(0.1 mg/ml)in the dorsal region for 7 days.Adhe-sive removal test,tapered beam walking test and descending a wire mesh pole test were performed to detect the changes in the coordinated motor behaviors of rats as well as changes in the expression of tyrosine hydroxylase(TH)and dopa-mine transporter(DAT)of nigrostriatal dopaminergic system in rats.Results:Middle-aged rats showed reduced behav-ioral parameters of adhesive removal test,tapered beam walking test and descending a wire mesh pole test compared with those of adult rats(P<0.05),which were improved after treatment with EGF(P<0.05).The expression of TH and DAT in nigrostriatal dopaminergic system was down-regulated in middle-aged rats compared with that in adult rats(P<0.01),however,which were up-regulated after treatment with EGF(P<0.01).Conclusion:EGF can amelio-rate the decline in coordinated motor behaviors and increases the activity of nigrostriatal dopaminergic system in middle-aged rats.

Objective To evaluate the value of ultrasound and magnetic resonance imaging(MRI)in the diagnosis of knee osteoarthritis(KOA)by Meta-analysis.Methods Multiple databases for literature on KOA ultrasound and MRI diagnosis were screened.After data extraction and study quality assessment,14 articles involving 1613 patients were finally included.Meta-analysis were used on the extracted data to comprehensively evaluate the effectiveness of ultrasound and MRI in the diagnosis of KOA.Results All included studies used arthroscopy or surgical pathology as the gold standard for diagnosis.The pooled sensitivity,specificity,and diagnostic odds ratio(DOR)for ultrasound in diagnosing KOA were 0.79,0.82,and 20.30,respectively,with area under the curve(AUC)was 0.89.In comparison,the pooled sensitivity,specificity,and DOR for MRI in diagnosing KOA were 0.88,0.85,and 42.35,respectively,with AUC of 0.92.Conclusion Ultrasound and MRI have good accuracy in the diagnosis of KOA,and MRI is superior to ultrasound.

Objective To explore the effect of exposure to noise of 3.0T magnetic resonance imaging(MRI)on children's cochlear function.Methods We prospectively recruited 72 children who underwent cranial MRI examination at our hospital from May to November 2018;3M earplugs and sponge mats were used for hearing protection during MRI scanning.Noise level(dBA)of each MRI sequence was detected with a nonmagnetic microphone and a sound level meter.Distortion product otoacoustic emissions(DPOAE)test at 2-7 kHz was performed 24 hours before and 30 minutes after the MRI examination.Paired t-test or Wilcoxon signed-rank test was used to analyze differences in DPOAE amplitude before and after the MRI examination.Results The average noise level of MRI measured in the study was(107.7±3.92)dBA.Compared with that before the MRI examination,the DPOAE amplitude(dB)changed little after the MRI examination;the range of amplitude differences in each age group was as follows:left ear(-0.24-1.10)and right ear(-0.24-0.74)in the 0-1 year-old group;left ear(-0.07-0.59)and right ear(-0.57-0.75)in the 2-5 year-old group;left ear(-0.36-0.44)and right ear(-0.30-0.57)in the 6-12 year-old group.No statistically significant difference was found(correction P＞0.05).Conclusion No potential impact of 3.0T MRI noise on children's cochlear function was observed under routine hearing protection.

Objective To evaluate the effectiveness of filter membranes made from different materials in monitoring the health status of rodents in barrier environment facilities by investigating their microbial capture performance.Methods Pasteurella pneumotropica(Pp)and Staphylococcus aureus(Sa)were used as representative strains to simulate the process of microbial capture by filter membranes under laboratory conditions.The microbial capture effectiveness of five self-selected filter membranes(M1,M2,M3,M4,and M5)with adsorption and breathability properties and a commercial filter membrane(T1)were comprehensively evaluated based on captured dust mass,minimum detection limit,and differences in Ct values obtained through fluorescence quantitative PCR detection.The best-performing self-selected filter membrane was placed in the ventilation ducts of cage racks within the barrier facility,with sentinel mice in corresponding cage racks as the control group.Staphylococcus epidermidis and Escherichia coli were used as indicator bacteria to calculate the positive detection rate and coincidence rate,thereby exploring the feasibility of using microbial capture filter membranes to monitor the health status of experimental animals in barrier facilities.Results In terms of the captured dust mass,the self-selected filter membrane M3(non-woven filter membrane with a diameter of 0.1 μm);showed a capture effectiveness second only to T1,with a capture mass of 0.126 g.For Sa,all filter membranes except M4 had a minimum detection limit of 102 CFU/g.For Pp,the minimum detection limit for all filter membranes was 102 CFU/g.However,the Ct value of the quantitative fluorescence PCR amplification results for M3 was significantly lower than that of other materials,indicating that M3 had the best capture performance among the five self-selected materials.In the filter detection verification experiment,the positive detection rate of Staphylococcus epidermidis in sentinel mouse feces and M3 was 50.00％(6/12)and 58.33％(7/12),respectively,with a coincidence rate of 92％.The positive detection rate of Escherichia coli in both sentinel mouse feces and M3 was 50.00％(6/12),with a coincidence rate of 100％.Conclusion Among the 5 self-selected filter membranes,M3 exhibits the best capturing performance.Within the barrier environment facilities,M3 outperforms sentinel mice in monitoring Staphylococcus epidermidis.Therefore,non-woven filter membrane with a diameter of 0.1 μm;can be used as the material for microbial capture filter membranes,providing valuable insights for the selection and application of microbial capture filter membranes used in PCR monitoring of cage exhaust air dust.

Objective:To investigate the accuracy of intestinal ultrasound (IUS) in evaluating endoscopic activity of ulcerative colitis (UC) .Methods:A cross-sectional survey study was conducted. Consecutive patients with UC at the First Affiliated Hospital of Zhengzhou University were recruited from June 2022 to September 2023. All the patients underwent IUS and colonoscopy. The colorectal segments were divided into remission and activity groups based on the Mayo endoscopic score (MES). The differences in IUS parameters between the remission and activity groups were compared. The accuracy of IUS parameters in diagnosing UC endoscopic activity was discussed.Results:A total of 315 colorectal segments from 80 patients were enrolled, including 171 colorectal segments in the remission group, and 144 were in the activity group. Compared with the colorectal segments in the activity group, bowel wall thicknessc (BWT) [2.40 (1.90, 3.50) mm vs. 4.70 (3.50, 6.00) mm, P < 0.001], colour doppler signal (CDS) ≥2 (5.8% vs.49.3%, P < 0.001), fatty wrapping (14.0% vs. 50.7%, P < 0.001), presence of lymph nodes (4.1% vs. 23.6%, P < 0.001), abnormal wall layer stratification (14.6% vs. 60.4%, P < 0.001) were significantly lower in the remission group. ROC curve showed that the sensitivity of BWT, CDS, fatty wrapping, presence of lymph nodes, and abnormal wall layer stratification assessment of endoscopic activity was 77.8%, 49.3%, 50.7%, 23.6%, and 60.4%, while the specificity was 74.3%, 94.2%, 86.0%, 95.9% and 85.4% respectively. Conclusion:IUS demonstrates favorable accuracy in assessing the endoscopic activity of UC, BWT, CDS, wall layer stratification, fatty wrapping, presence of lymph nodes are crucial parameters for evaluating endoscopic activity in UC.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease. METHODS: A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children's Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children's Hospital (Ethics No. KYAQ2022-263). RESULTS: The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c.1103_1104delAG (p.Gln368Argfs*8) and c.1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c.1103_1104delAG was predicted as a pathogenic variant (PVS1+PM2_Supporting+PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+PM3+PM2_Supporting+PP4). CONCLUSION The c.1103_1104delAG and c.1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.
Humans ; Male ; Child, Preschool ; Heterozygote ; Pentosyltransferases/genetics* ; Pedigree ; UDP Xylose-Protein Xylosyltransferase ; Mutation ; Exome Sequencing ; Genetic Testing

Objective:To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.Methods:A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children′s Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children′s Hospital (No. KYSQ2022-263).Results:The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c. 1103_1104delAG (p.Gln368Argfs*8) and c. 1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c. 1103_1104delAG was predicted as a pathogenic variant (PVS1+ PM2_Supporting+ PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+ PM3+ PM2_Supporting+ PP4). Conclusion:The c. 1103_1104delAG and c. 1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.