Objective:To explore the clinical phenotypic features and genetic variation characteristics of children with epilepsy-aphasia spectrum due to GRIN2A gene variants confirmed by second-generation sequencing. Methods:The clinical data of 5 children with epilepsy-aphasia spectrum with epileptic onset diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, from February 2019 to November 2022 were retrospectively analyzed. Whole-exome genome sequencing of the probands using a second-generation sequencing method confirmed that all 5 cases were children with the GRIN2A gene variant. The characteristics of the GRIN2A gene variants were analyzed. Results:Among the 5 children diagnosed with epileptic aphasia spectrum due to GRIN2A gene variants, the male-to-female ratio was 4∶1, and the age range of onset was 1.5-4.4 years. The clinical phenotype included seizures in all cases, language and intellectual developmental deficits in 4 cases, and attention deficit hyperactivity disorder in 3 cases. The seizures were manifested as focal seizures or secondary generalized seizures, and were effectively controlled with antiepileptic drugs. Among the 5 children, gene variant of case 1 was originated from a paternal heterozygous variant, and cases 2-5 had de novo variants, which were c.2107C>T (p.Gln703 *) nonsense variant, c.2284G>A (p.Gly762Arg) missense variant, c.2197del (p.Ala733Glnfs *3) shifted coding variant, c.2511G>A (p.Trp837 *) nonsense variant, and c.1651+1G>C shear site variant, respectively. None of the 5 loci were reported in the literature. Conclusions:Epilepsy-aphasia spectrum is an epilepsy syndrome with a complex onset, and may have different phenotypes at different genetic variant loci, with focal seizures or secondary generalized seizures, which can be effectively controlled with anti-seizure medication. The GRIN2A gene variant is the genetic etiology of the epileptic aphasia spectrum.

Objective:To summarize the clinical phenotype and genetic characteristics of children with neurodegeneration caused by UBTF gene mutations in childhood. Methods:The clinical and genetic data of 3 children with neurodegeneration in childhood diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University from February 2020 to January 2023 were retrospectively analyzed. All the 3 probands were found having UBTF gene mutations through the whole exome gene sequencing, and the first generation Sanger sequencing method was used to verify the UBTF gene in their family members. The variation characteristics of the UBTF gene were analyzed, and the treatment and follow-up results of the 3 children were summarized. Results:Among the 3 children with childhood onset neurodegeneration, 2 were male and 1 female, aged 9 months, 4 years and 6 months after birth, respectively. The clinical phenotypes mainly included motor retardation, speech and mental retardation, and dystonia. Among them, case 1 and case 2 had seizures, case 1 had dysphagia, feeding problems, no weight gain and ataxia. Brain MRI plain scan showed that case 1 and case 2 had different degrees of cerebral atrophy, case 1 had hypoplasia of corpus callosum, ventricle expansion and softening focus, and case 3 showed non-specific widening of the subarachnoid space. There were no abnormalities in the chromosome copy number variation and mitochondrial ring gene testing in the 3 children; the whole exon gene testing suggested the de novo missense variant in the UBTF gene [NM_014233.4: c.1414(exon14) G>A (p.Gly472Ser), c.1392(exon14)G>T(p.Lys464Asn)] and the maternal nonsense variant [NM_014233.4:c.520C>T(p.Arg174 *)], which were unreported site variants. In terms of treatment, the 3 children received comprehensive rehabilitation function training, and achieved a certain degree of language and intelligence improvement. Seizure control was effectively managed in case 1 with a single antiepileptic drug. Epileptic seizures were effectively treated and controlled in case 2 using more than 4 types of antiepileptic drugs. Conclusions:Neurodegenerative changes caused by UBTF gene mutations in childhood are relatively rare, and some cases may be accompanied with brain atrophy. De novo missense variation and maternal nonsense variation of the UBTF gene are the genetic etiology of the 3 probands.

Objective To explore the role of serum leucine-rich-alpha-2-glycoprotein1(LRG1),neopterin(NPT)and virus antibodies during the progression of viral meningitis(VM)and their value in evaluating the condition and predicting the prognosis of VM in children.Methods A total of 130 pediatric patients with VM admitted to Kaifeng Children's Hospital from August 2020 to February 2023 were selected as the observation group,and at the same time,another 130 pediatric patients with VM symptoms who were diagnosed as non central nervous system infectious diseases by lumbar puncture cerebrospinal fluid examination were selected as the control group.After admission,2 mL peripheral venous blood of children in the two groups was collected,and the levels of serum LRG1 and NPT were assessed by enzyme-linked immunosorbent assay.Before treatment,1 mL cerebrospinal fluid sample of children in the two groups was collected by lumbar puncture,and the host specific immuno-globulin G(IgG)against herpes simplex virus-I(HSV-I),cytomegalovirus(CMV),Epstein-Barr virus(EBV),and parain-fluenza virus(PIV)in cerebrospinal fluid was detected by enzyme-linked immunosorbent assay.The levels of serum LRG1 and NPT,as well as the positive rate of virus antibody IgG were compared between the two groups.The VM children were then divided into the severe group(n=54)and mild group(n=76)according to the disease severity,and they were divided into the good prognosis group(n=37)and poor prognosis group(n=93)based on the prognosis.The levels of serum IRG1 and NPT and the positive rate of virus antibody IgG were compared in children with different disease severity and prognosis.The correlation of serum LRG1,NPT and virus antibody with the disease severity or disease progression for pediatric VM was analyzed,and their interactive effects on the disease progression of children with VM were analyzed.The predictive value of serum LRG1,NPT and virus antibody for pediatric VM outcome was analyzed by the receiver operating characteristic(ROC)curve.Results The levels of serum LRG1 and NPT,as well as the positive rate of virus antibody IgG of children in the obser-vation group were significantly higher than those in the control group(P＜0.05);the levels of serum LRG1 and NPT,as well as the positive rate of virus antibody IgG of children in the severe group were significantly higher than those in the mild group(P＜0.05);the levels of serum LRG1 and NPT,as well as the positive rate of virus antibody IgG of children in the poor prognosis group were significantly higher than those in the good prognosis group(P＜0.05).High level of serum LRG1 with high positive rate of virus antibody IgG and high level of serum NPT with high positive rate of virus antibody IgG showed positive interactions in leading to poor prognosis in children with VM odds ratio(OR)=15.238,9.684).The submultiplicative models were applied for the high levels of serum LRG1 with high positive rate of virus antibody IgG(OR=15.238)and high levels of serum NPT with high positive rate of virus antibody IgG(OR=9.684).The area under the curve(AUC)for predicting poor prognosis in children with VM after 2 weeks of treatment by serum LRG1,NPT and virus antibody IgG were 0.786,0.794 and 0.919,respectively,and the AUC for the combined prediction of the three was 0.933;the AUC of LRG1,NPT and positive rate of virus antibody IgG for predicting poor prognosis in children with VM after 2 weeks of treatment was greater than that of the three alone(P＜0.05).Conclusion NPT and LRG1 may be involved in the development of VM.The levels of serum LRG1 and NPT are positively correlated with the severity and progression of VM.The levels of serum NPT and LRG1 and the positive rate of virus antibody IgG have certain value in the disease evaluation and prognosis prediction of VM,and the combination of the three has a higher predictive value for the prognosis of VM.There is a positive interaction between high LRG1 with high positive rate of virus antibody IgG,and high NPT with high positive rate of virus antibody IgG in children with VM.

Autologous ozonized blood transfusion(AOBT) is a therapy of re-transfusion of 100-200 mL of autologous blood after shaking and agitation with appropriate amount of oxygen-ozone in vitro. The oxidation of blood through the strong oxidation of ozone can enhance the non-specific immune response of the body, regulate the internal environment and promote health. This therapy has been increasingly applied in clinical practice, while no unified standard for the operation process in terms of ozone concentration, treatment frequency and treatment course had been established. This operation process of AOBT is primarily explored in order to standardize the operation process and ensure its safety and efficacy.

Objective:To explore the clinical characteristics and treatment of a head-neck separation type of Monteggia equivalent fractures in children.Methods:From March 2016 to February 2019, 12 children sought medical attention at Pediatric Orthopedic Hospital, Honghui Hospital Affiliated to Xi'an Jiaotong University for a head-neck separation type of Monteggia equivalent fractures. They were 8 boys and 4 girls, aged from 3 to 14 years (average, 8.3 years). All cases were treated with closed reduction, deformity correction and plaster fixation at emergency department after X-ray examination. In line with the treatment principles for Monteggia fractures, after the ulnar length was first restored and stabilized, a proper fixation method was chosen according to the location and type of the ulnar fracture, followed by treatment of the radial neck fracture. The fracture union and complications were evaluated according to the X-ray films after operation, and the therapeutic efficacy was evaluated according to the Mayo elbow performance score (MEPS) at the final follow-up.Results:The head-neck separation type of Monteggia equivalent fractures in children was characterized by a fracture of ulnar diaphysis or metaphysis and a fracture of the radial neck with complete separation of the head and neck, a longitudinal axis of the radius off the capitellum center at the distal fracture end but normal proximal humeroradial relationship. The fractures were classified into 2 types depending on the angulation direction of the ulnar fracture and the direction of distal displacement of the radial neck fracture: 7 cases belonged to the extension-valgus type and 5 cases to the flexion-varus type. The 12 patients were followed up for 8 to 38 months (average, 16.0 months). Of the ulnar fractures, one was treated with closed reduction and Kirschner wire fixation, 4 with elastic intramedullary nail fixation, 5 with plate fixation, one untreated, and one with manual reduction only. Of the radial neck fractures, 11 were treated with closed reduction and elastic intramedullary nail fixation, and one with open reduction and K-wires fixation. All fractures got united after 8 to 12 weeks (mean, 9.6 weeks). The time for removal of internal fixation ranged from 12 to 50 weeks (mean, 31.2 weeks). Avascular necrosis occurred in one case and bulk formation of proximal metaphysis in another. By the MEPS at the final follow-up, the therapeutic efficacy was excellent in 10 cases, good in one and fair in one.Conclusions:The head-neck separation type of Monteggia equivalent fractures in children is different from common Monteggia fractures or radial neck fractures, because its clinical manifestations are characterized by a fracture of ulnar diaphysis or metaphysis and a fracture of the radial neck with complete separation of the head and neck, a longitudinal axis of the radius off the capitellum center at the distal fracture end but normal proximal humeroradial relationship. The treatment options for ulnar fractures include closed reduction with Kirschner wire fixation, elastic intramedullary nailing, open reduction and bone plate fixation or no fixation, while radial neck fractures are mostly treated by closed reduction and elastic intramedullary nailing. Early functional exercise can lead to satisfactory clinical outcomes.

Objective:To discuss the pathological characteristics and strategy for diagnosis and treatment of the transolecranon fracture-dislocation of the elbow in children.Methods:Retrospectively reviewed were the 15 patients who had been treated at Hospital of Pediatric Orthopedics, Xi'an Honghui Hospital from October 2016 to March 2019 for transolecranon fracture-dislocation of the elbow. They were 11 boys and 4 girls, with an average age of 8.3 years (from 5 to 14 years) and 10 left and 5 right arms injured. Type Ⅰ (simple fracture) was found in 11 cases and type Ⅱ (comminuted fracture) in 4 cases in 3 of which the coronoid process was affected. Of them, 14 were treated successfully with closed reduction and plaster fixation under local anesthesia in emergency but one was unsuccessfully. Of the 11 simple fractures, 10 received tension band fixation with Kirschner wire and a short oblique one underwent bone plate fixation; the 4 comminuted fractures were treated by fixation with a combination of Kirschner wire and bone plate.Results:The 15 patients obtained follow-up for 8 to 15 months (average, 11 months). The final follow-up observed fine anatomical relationship of the elbow in all patients, and no such complications as relapse of radial head dislocation, avascular necrosis of the trochlea or early closure of the epiphyseal plate. The transolecranon fracture-dislocation of the elbow obtained bony union in all patients after 5 to 7 weeks (average, 5.6 weeks). The therapeutic efficacy was evaluated at the final follow-up by the Mayo elbow performance score as excellent in 11 cases, as good in 3 and as fair in one.Conclusions:As a type of complicated fracture-dislocation of the elbow, the transolecranon fracture-dislocation of the elbow is rare in children, mainly manifested as simple ones. Treatment options depend on the type of fracture-dislocation. Only anatomical reduction of the olecranon fracture and restoration of a normal trochlear notch can lead to a stable humeroradial joint and thus fine clinical efficacy.

Objective:To investigate the characteristics and associated factors of depression in elderly patients with Parkinson's disease(PD).Methods:A total of 1138 elderly PD patients from Xuanwu Hospital of Capital Medical University were consecutively enrolled.The Hamilton Depression 17-item Scale(HAMD-17)was used to diagnose depression(scores ≥14). The depressive characteristics of PD patients with depression and those without depression were compared, and Logistic regression model was used to analyze the clinical risk factors of depression in PD patients.Results:Among the 1 138 PD patients, 233 cases had depression.The incidence of depression in PD patients was 20.5%, and the treatment rate was only 6.0%(14 cases). The main symptoms of depression in PD patients included sleep disturbance(101 cases, 43.3%), depression(57 cases, 24.5%), work and interest loss(49 cases, 21%). Compared to PD patients without depression, PD patients with depression were more likely women(49.4% vs36.3%), and had lower cognitive scores[(25.56 ± 4.22)scores vs(27.07 ± 3.08)scores], higher rate of freezing of gait(51.0% vs24.0%), higher incidence of disability(87.1% vs28.5%)( P<0.05). A comparison of each part of the unified Parkinson's disease rating scale(UPDRS)between the two groups revealed that the scores of activities of daily living[(16.52 ± 8.71)scores vs(10.15 ± 5.48)scores], the motor examination[(33.78 ± 19.48)scores vs(22.87 ±13.08)scores]and the complications of therapy[2.0(0.0, 6.0)scores vs0.0(0.0, 2.0)scores]were higher in the PD patients with depression group than in the PD patients without depression group( P<0.05). Logistic regression analysis showed that women( OR=1.532, 95% CI: 1.073-2.187, P=0.019), disability( OR=6.357, 95% CI: 4.399-9.186, P<0.001), activities of daily living evaluated by UPDRS( OR=1.093, 95% CI: 1.043-1.146, P<0.001)and motor complications( OR=1.100, 95% CI: 1.014-1.193, P=0.022)were independent risk factors for PD depression. Conclusions:Depression was common in PD patients and usually manifested as sleep disturbance and low motivation, women, motor complications, disability and decreased quality of daily living were independent risk factors for depression.

Objective:To examine the short-term outcomes of modified load-sharing rip-stop repair (mLSRS) and suture-bridge repair (SB) for large rotator cuff tear.Methods:The clinical data of patients who underwent shoulder arthroscopy for large rotator cuff repair at Department of Orthopedic, China Academy of Chinese Medical Sciences Wang Jing Hospital from January 2017 to December 2018 were collected. Totally 111 patients (39 in mLSRS group and 72 in SB group) were included in the study. There were 45 males and 66 females, aged (58.0±6.9)years (range: 40 to 72 years).A total of 39 pairs of patients were successfully matched by propensity score matching. The pain of shoulder joint was assessed by visual analogy score (VAS) , the shoulder function was assessed by Constant-Murley score, the abduction strength of bilateral shoulder joint was assessed by 90? force assessment method of upper limb on the plane of scapula, and the healing of rotator cuff on the operative side was assessed by sugaya ultrasonic classification standard. The difference of short-term outcome between the two groups were compared using t test, χ 2 test, Mann-Whitney U test, repeated measures design anova and multivariate analysis of variance. Results:At the 4th week after surgery, the VAS of mLSRS group was significantly lower than SB group(1 (2) vs. 2 (2) , F=5.32, P=0.02). One year after surgery, Constant-Murley score of two groups were significantly higher than those before surgery, but there was no significant difference between two groups(89.1±5.7 vs. 87.6±7.3, t=1.00, P=0.32). Abductor strength of affected limbs were lower than that of the opposite side, but there were no statistically significant differences between two groups(4.28±1.61 vs. 4.54±1.64, t=-0.70, P=0.49). According to the Sugaya classification, 32 cases in mLSRS group were healed while 7 cases were not healed,30 cases in SB group were healed while 9 cases were not healed(χ 2=0.32, P=0.58). Conclusion:The use of mLSRS fixation construct on large rotator cuff tear can reduce pain and the short-term outcome is reliable.

Objective:To examine the short-term outcomes of modified load-sharing rip-stop repair (mLSRS) and suture-bridge repair (SB) for large rotator cuff tear.Methods:The clinical data of patients who underwent shoulder arthroscopy for large rotator cuff repair at Department of Orthopedic, China Academy of Chinese Medical Sciences Wang Jing Hospital from January 2017 to December 2018 were collected. Totally 111 patients (39 in mLSRS group and 72 in SB group) were included in the study. There were 45 males and 66 females, aged (58.0±6.9)years (range: 40 to 72 years).A total of 39 pairs of patients were successfully matched by propensity score matching. The pain of shoulder joint was assessed by visual analogy score (VAS) , the shoulder function was assessed by Constant-Murley score, the abduction strength of bilateral shoulder joint was assessed by 90? force assessment method of upper limb on the plane of scapula, and the healing of rotator cuff on the operative side was assessed by sugaya ultrasonic classification standard. The difference of short-term outcome between the two groups were compared using t test, χ 2 test, Mann-Whitney U test, repeated measures design anova and multivariate analysis of variance. Results:At the 4th week after surgery, the VAS of mLSRS group was significantly lower than SB group(1 (2) vs. 2 (2) , F=5.32, P=0.02). One year after surgery, Constant-Murley score of two groups were significantly higher than those before surgery, but there was no significant difference between two groups(89.1±5.7 vs. 87.6±7.3, t=1.00, P=0.32). Abductor strength of affected limbs were lower than that of the opposite side, but there were no statistically significant differences between two groups(4.28±1.61 vs. 4.54±1.64, t=-0.70, P=0.49). According to the Sugaya classification, 32 cases in mLSRS group were healed while 7 cases were not healed,30 cases in SB group were healed while 9 cases were not healed(χ 2=0.32, P=0.58). Conclusion:The use of mLSRS fixation construct on large rotator cuff tear can reduce pain and the short-term outcome is reliable.

Objective To grasp the general situation of patent application and authorization of 77 medical and health institutions in Zhejaing,to provide reference and basis for promoting the patent application and conversion.Methods Patent data were searched through Bai Teng net patent database,and SPSS 19.0 was used for statistical analysis.Results The total number of patent application showed a trend of generally rise.There were 1430 valid invention patents in total,among which 264 were invention patents and 1166 utility model patents.The total number of patens as well as invention patents were positive correlated to province GDP GDP and doctors per thousand population (r=0.824,0.812,0.784,0.771 respectively,P＜0.001).The rate of collaborative patent application was 6.28％,and there was a significant difference (α=0.05/3,P＜0.001) in the collaborative patent applications around Hangzhou,provincial and other cities medical and health institutions.Conclusions The total number of patents in 77 medical and health institutions in Zhejaing has reached a certain scale,and the number of patents increase with the economic development and the number of doctors per thousand population.The effective patents present in concentrating in regions,and the proportion of invention patents was low.