Objective To observe the effects of acupuncture at Huantiao(GB30)points and Weizhong(BL40)points combined with high-energy extracorporeal shock wave therapy(ESWT)on hip joint function and the expression of inflammation-related factors in patients with early-stage osteonecrosis of the femoral head(ONFH).Methods A total of 90 patients diagnosed with early-stage ONFH and admitted to the wards and outpatient clinics of Xi'an Trade Union Hospital from February 2021 to December 2023 were selected as the study subjects.The patients were randomly divided into an observation group and a control group using a random number table,with 45 patients in each group.The control group received ESWT,while the observation group received acupuncture at Huantiao points and Weizhong points in addition to ESWT.The treatment lasted for 8 weeks.After treatment,the clinical efficacy of the two groups was evaluated.Changes in traditional Chinese medicine(TCM)syndrome scores,Visual Analogue Scale(VAS)scores for pain,Harris hip scores,and internal-external rotation range of motion(I-ER ROM)of the hip joint were observed before and after treatment.Changes in levels of D-dimer(D-D),high-shear whole blood viscosity(HRV),low-shear whole blood viscosity(LRV),plasma viscosity(PV),tumor necrosis factor-α(TNF-α),and interleukin-1β(IL-1β)were compared between the two groups before and after treatment.Results(1)The total effective rate in the observation group was 95.56%(43/45),compared to 75.56%(34/45)in the control group.The observation group showed significantly better efficacy than the control group,with a statistically significant difference(P＜0.05).(2)After treatment,both groups showed significant improvements(P＜0.05)in scores for hip dull pain,joint stiffness,walking fatigue,and soreness of the waist and knees,and the observation group was significantly superior to the control group in improving these scores,with a statistically significant difference(P＜0.05).(3)After treatment,both groups showed significant improvements(P＜0.05)in Harris hip scores,I-ER ROM,and VAS scores,and the observation group was significantly superior to the control group in improving these scores,with a statistically significant difference(P＜0.05).(4)After treatment,both groups showed significant improvements(P＜0.05)in serum TNF-α and IL-1β levels,and the observation group was significantly superior to the control group in improving these levels,with a statistically significant difference(P＜0.05).(5)After treatment,both groups showed significant improvements(P＜0.05)in serum D-D,HRV,LRV,and PV levels,and the observation group was significantly superior to the control group in improving these levels,with a statistically significant difference(P＜0.05).Conclusion Acupuncture at Huantiao points and Weizhong points combined with high-energy ESWT can significantly improve hip joint function,enhance hemorheological status,alleviate hip pain,increase I-ER ROM,reduce inflammatory responses,and lower serum TNF-α and IL-1β levels in patients with early-stage ONFH.The treatment shows significant efficacy.

Objective To develop an ultra-sensitive nanoparticle contrast agent for magnetic resonance angiography(MRA),to establish a highly sensitive imaging method for complicated vascular structures,and to provide imaging evidence for precision diagnosis,treatment,prognosis,and individualized treatment of ischemic stroke.Methods A dual-modality MRA contrast agent was prepared through ligand exchange of ultra-small NaGdF4 nanocrystals synthesized via a high temperature method,with biocompatible polyethylene glycol(PEG-dp)ligands.The basic structure,morphology,size distribution,and relaxation rate of the NaGdF4 nano contrast agent were characterized using transmission electron microscopy(TEM),a particle size potential analyzer,and a 7.0 T small-animal MRI scanner.A total of 6 healthy male SPF-grade BALB/c mice were selected and randomly divided into two groups,a NaGdF4 group and a Gd-DTPA group.The mice in the two groups were injected with NaGdF4 nanoparticle contrast agent or clinical Gd-DTPA contrast agent(0.1 mmol Gd3+/kg)via the tail vein.MRA images were obtained using a 7.0 T small animal magnetic resonance imaging system before and after the injection.A total of 6 healthy male SPF-grade Sprague Dawley(SD)rats were selected to establish a right middle cerebral artery occlusion(rMCAO)model to simulate ischemic stroke.The rats were injected with NaGdF4 nano-contrast agent(0.1 mmol Gd3+/kg)via the tail vein.Before and after the injection,brain MRI images of the rats were obtained using a 7.0 T small animal magnetic resonance imaging system.The in vitro and in vivo biological safety of the nano contrast agent was verified through cytotoxicity and hemolysis experiments and HE staining.Results Uniform spherical oil-phase NaGdF4 nanocrystals with an average particle size of approximately(4.43±0.46)nm were successfully prepared.After ligand exchange,biocompatible water-phase nanocrystals were obtained with a hydrodynamic size of 16.1 nm and a surface potential of-1.9 mV.The relaxation performance of this nanocrystal contrast agent was significantly superior to that of the clinical contrast agent Gd-DTPA.The longitudinal molar relaxivity rate(r1)of the NaGdF4 nano contrast agent was 8.84 mM-1s-1,while the transverse molar relaxivity rate(r2)was 27.36 mM-1s-1,which were 1.96 times(4.52 mM-1s-1)and 3.37 times(8.13 mM-1s-1)those of Gd-DTPA,respectively.It also demonstrated excellent biocompatibility.NaGdF4-enhanced MRA achieved high-resolution vascular imaging and effectively enabled the differentiation of the ischemic area,infarct core,and ischemic penumbra in an animal model of ischemic stroke.Conclusion The multi-parameter MRA based on NaGdF4 nanoparticles provides critical imaging evidence for the clinical diagnosis and prognosis of ischemic stroke.

Objective:To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49).Methods:Two MRD49 pedigrees which were admitted to the Children′s Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected and analyzed. Genomic DNA was extracted from peripheral blood samples of the probands and their family members. The probands were subjected to mutational analysis by high-throughput sequencing. Candidate variants were validated using real-time fluorescence quantitative PCR (q-PCR) or Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Shandong University (No. SDFE-IRB/T-2022002).Results:Proband 1 had presented with language delay, motor retardation and intellectual disability, and his maternal grandmother, mother, aunt and cousin all had various degrees of intellectual disability. Sequencing results showed that proband 1 had deletion of exons 3 ~ 7 of the TRIP12 gene. q-PCR verification showed that his mother, aunt, maternal grandmother and cousin had all harbored the same deletion. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PM2_Supporting+ PP1). Proband 2, who had mainly presented with language delay, motor retardation and intellectual disability, and was found to harbor a heterozygous c.3010C>T (p.Arg1004*) variant of the TRIP12 gene, which was verified to be de novo in origin. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:This study had diagnosed two MRD49 families through high-throughput sequencing. Above findings have enriched the phenotypic and mutational spectrum of MRD49 in China, which has also facilitated genetic counseling for the two pedigrees.

Objective:To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.Methods:A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c. 556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:The c. 556_559dupGTTC (p.L187Rfs*5) and c. 919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.

AIM: To investigate the effect of scleral-fixated capsular tension ring(SFCTR)combined with phacoemulsification and intraocular lens(IOL)implantation in the treatment of traumatic lens subluxation.METHODS: A total of 14 patients(14 eyes)who underwent SFCTR combined with phacoemulsification and IOL implantation for traumatic lens subluxation from December 2018 to February 2023 were selected. Visual acuity, intraocular pressure, anterior segment photography, and ultrasound biomicroscopy(UBM)were examined during postoperative follow-up. The location of IOL and postoperative complications were recorded.RESULTS: SFCTRs and IOLs were successfully implanted in all patients. The mean postoperative follow-up was 1.92±1.36 a. At the last follow-up, the uncorrected distance visual acuity(UDVA; 0.20±0.18 LogMAR)and corrected distance visual acuity(CDVA; 0.16±0.17 LogMAR)were significantly improved compared with the UDVA(1.13±0.56 LogMAR)preoperatively(P<0.01). The intraocular pressure(17.64±3.67 mmHg)was lower than that before the operation(22.00±9.92 mmHg; P<0.05). During the follow-up, the slit-lamp examination showed that the IOL was in the middle of the pouch. UBM examination showed that the CTR and IOL were located in the pouch, and the distance between the equatorial part of the pouch and the ciliary process was equal in all directions.CONCLUSION: The SFCTR combined with phacoemulsification and IOL implantation is an efficient and minimally invasive method in the treatment of traumatic lens subluxation.

Immunotherapy has become the first-line standard treatment option for driver gene-negative advanced non-small cell lung cancer (NSCLC). But not all patients can benefit from immunotherapy, and can even have serious adverse reactions. It is crucial to identify the predictors of clinical response to immunotherapy. Several studies have shown that elevated baseline C-reactive protein (CRP) or persistent elevation of CRP during the treatment process may indicate a poorer prognosis for patients, and high CRP may be correlated with adverse reactions. Attention to the dynamic changes of CRP during immunotherapy for NSCLC may become an important predictor of prognosis.

Objective To study the curative effects of traditional Chinese medicine paste combined with Baduanjin in treatment of osteoporotic vertebral compression fracture (OVCF) after percutaneous vertebroplasty (PVP). Methods 120 OVCF patients treated with PVP in our hospital from January 2016 to September 2017 were divided into the observation group (60 cases) and the control group (60 cases) according to the random number table method. The control group was given calcium carbonate D₃ chewable tablets orally with routine guidance. In addition to the same treatment as the control group, the observation group received the traditional Chinese medicine paste orally with Baduanjin exercise. Both groups were treated for 6 months and followed-up for 3 years. The curative effects in the two groups after 6 months treatment and the low back pain after 1, 3 and 6 months of treatment were recorded. The changes of bone mineral density (BMD), kyphosis angle (Cobb angle), anterior wall height of vertebral body (AVBH) and level of bone metabolism indexes in the two groups were compared before and after treatment for 6 months. The follow-up times and the incidences of push-back fracture after PVP during follow-up were recorded. Results After 6 months of treatment, the clinical cure rate of the observation group was 73.33%, which was higher than 53.33% of the control group(P<0.05). Compared with pretreatment, the scores of visual analogue scale (VAS) in the two groups gradually decreased after 3 and 6 months of treatment, and the observation group had a lower scores than the control group (P<0.05). After 6 months treatment, BMD and AVBH of lumbar vertebrae and femoral neck in both groups increased, and the observation group was higher than that in the control group. The Cobb angle and serum levels of Type I procollagen degradation products (β-Cross I), the n-terminal middle osteocalcin (N-MID Ost) and parathyroid hormone (PTH) decreased in both groups, and the observation group was lower than those in the control group (P<0.05). There was no significant difference in fracture incidence after PVP in the year 1, year 1 to 3 follow up between the two groups (P>0.05). During the 3 years follow-up, the incidence of push-body fracture after PVP in the observation group was 3.33%, which was lower than that in the control group 20.00%( P<0.05). Conclusion Traditional Chinese medicine paste combined with Baduanjin reduced the serum levels of β-Cross I, N-MID Ost and PTH, regulated bone metabolism, improved BMD and AVBH of lumbar vertebrae and femoral neck, reduced Cobb angle, promoted the recovery of lumbar function, alleviated patients' back pain, lowered the incidence of push-body fracture after PVP. The curative effects were remarkable.

OBJECTIVE: To explore the clinical and genetic characteristics of two children with developmental delay. METHODS: Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children. RESULTS: Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously. CONCLUSION The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
Child ; Humans ; Developmental Disabilities/genetics* ; High-Throughput Nucleotide Sequencing ; Intellectual Disability/genetics* ; Karyotyping ; Mutation

Objective:To explore the genetic etiology of a child suspected for peroneal muscular atrophy.Methods:The child and his parents were analyzed by using next generation sequencing.Results:The child was found to harbor compound heterozygous variants of c. 52G>T (p.Glu18X) and c. 1390C>T (p.Arg464X) of the PRX gene, which were inherited from his father and mother, respectively. Among these, the c. 52G>T variant was previously unreported. Based on the standards and guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2+ PM3, PVS1+ PM3-Strong+ PM2+ BS2). Conclusion:The compound heterozygous variants of the PRX gene probably underlay the Charcot-Marie-Tooth disease type 4F in this child. Above finding has enriched the mutational spectrum of the PRX gene.

OBJECTIVE: To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics. RESULTS: The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing. CONCLUSION The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Child ; Heterozygote ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases