OBJECTIVE: To study the clinical features of children with influenza A virus infection and neurological symptoms. METHODS: A retrospective analysis was performed for the clinical data of children with laboratory-confirmed influenza A and neurological symptoms who were treated in Xi'an Children's Hospital Affiliated to Xi'an Jiaotong University from January to December, 2019. RESULTS: A total of 895 children were diagnosed with influenza A, among whom 291 had neurological symptoms. Boys had a significantly higher incidence rate of influenza A than girls ( CONCLUSIONS There is a high incidence rate of neurological symptoms in children with influenza A, and seizures are the most common symptom. Most of the patients with neurological symptoms tend to have a good prognosis, but those with ANE may have a poor prognosis.
Brain Diseases ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Influenza A virus ; Influenza, Human/epidemiology* ; Male ; Retrospective Studies ; Seizures

OBJECTIVE: To explore the clinical results of modified medial incision in the treatment o f Pilon fracture with medial column compression and evaluate its safety. METHODS: Thirty-one patients of Pilon fracture with medial column compressiom accepted surgical treatments in the Department of Foot and Ankle at Honghui Hospital of Xi'an Jiaotong University from January 2015 to January 2019. According to the imaging data at admission, 31 cases were diagnosed as closed Pilon fractures, and both preoperative X-ray and 3D CT scan were shown as medial column compressive fractures. All patients underwent modified medial incision with complete data, including 23 males and 8 females;ranging in age from 22 to 65 years old, with an average of (39.5±16.2) years old. All patients underwent modified medial approach combined with other approaches to expose the broken end of fracture. The time from trauma to operation ranging from 7 to 20 days, with a mean of(9.5±5.5) days. The incision and fracture healing were followed up regularly after operation. RESULTS: All patients were followed up with an average of(15.7±5.5) months(ranged, 13 to 25 months). Preoperative and postoperative routine X-ray and 3D CT examination showed anatomical reduction in 8 cases, and the anatomical reduction rate was 25.81%. Up to the latest follow-up, all 31 fractures had achieved bone healing, and the healing time ranged from 11 to 22 weeks, with a mean of (14.3±4.7) weeks. At the latest follow-up, the American Orthopaedic Foot and Ankle Society (AOFAS) ankle and hindfoot scores ranged from 75 to 89, with a mean of 80.5±4.9, 24 patients got a good result, 7 fair. CONCLUSION The improved medial approach for Pilon fracture can directly expose the posterior medial, medial and anterior medial of the distal tibia. After reduction under direct vision, the medial compressed and collapsed articular surface are fixed. The clinical curative effect is satisfactory and the wound complications are less. It is recommended for Pilon fracture where compression of the medial articular surface is predominant.
Adult ; Aged ; Ankle Fractures/surgery* ; Ankle Joint/surgery* ; Female ; Fracture Fixation, Internal/methods* ; Humans ; Male ; Middle Aged ; Tibial Fractures/surgery* ; Treatment Outcome ; Young Adult

AIM: To evaluate the effectiveness of ab-externo microcatheter-assisted trabeculotomy(MAT)in moderate and advanced primary congenital glaucoma(PCG).METHODS: A retrospective study. A total of 20 children(22 eyes)with PCG who were admitted to Xi'an Fourth Hospital from August 2018 to November 2019 underwent ab-externo MAT. The follow-up is 12mo. The intraocular pressure(IOP), numbers of IOP-lowering drugs, corneal diameter, the cup/disk ratio(C/D ratio)of optic nerve and postoperative complications were observed.RESULTS: The mean preoperative IOP was 33.4±9.1mmHg, while it was 14.4±5.2mmHg at the last follow-up(P<0.001).The median of IOP-lowering drugs used before surgery was 2(2, 4), and it was 0(0, 2)at 12mo after surgery(P<0.001). The preoperative corneal diameter was 13.34±0.89mm, and it was 13.27±0.78mm at 12mo after surgery(P>0.05). The preoperative C/D ratio of optic nerve was 0.85±0.17, and it was 0.84±0.16 at 12mo after surgery(P>0.05). There were no severe complications occurred in all patients.CONCLUSION: Ab-externo MAT is effective and safe in the treatment of moderate and advanced PCG.

Objective: To investigate the clinical manifestations and genetic features of 2 children with Smith-Kingsmore syndrome caused by MTOR gene variation and review the literature. Methods: The clinical data of 2 children carrying MTOR gene variant, diagnosed at Xi'an Children's Hospital from April 2018 to April 2021, were retrospectively summarized."MTOR"and"Smith-Kingsmore syndrome"were used as key words to search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed and OMIM up to August 2021. The characteristics of MTOR gene variation and the clinical phenotype of children with Smith-Kingsmore syndrome were summarized. Results: Two children were both females, aged 1.5 years and 2 years respectively, the onset age were both in infancy. They both had developmental delay, megalencephaly and abnormal face. Both whole exome sequencing revealed a de novo heterozygous missense variant in MTOR gene. One case carried c.5395G>A (p.Glu1799Lys) and the other case carried c.7234G>C (p.Asp2412His). There was no literature of MTOR gene variation in Chinese. So far, a total of 45 cases were reported worldwide with detailed clinical information. Eleven variations in MTOR gene were involved, which were all heterozygous missense mutations. Among them, p.Glu1799Lys was the most common sites (28 cases,62%). Another case carried c.7234G>C (p.Asp2412His) was not reported before. Summarizing the 47 cases (including these 2 cases), 46 cases had developmental delay or intellectual disability, 9 cases had developmental regression,42 cases had megalencephaly, 30 cases had facial malformation,16 cases had hypotonia, 17 cases had autism spectrum disorders, 3 cases had hyperactivity, 3 cases had obsessive compulsive disorder, 13 cases had eye diseases, 11 cases had cutaneous vascular malformation, and 9 cases had hypoglycemia. Conclusions: The main clinical features of Smith-Kingsmore syndrome include megalencephaly, developmental delay or intellectual disability, and facial malformation, which can be combined with epilepsy, autism spectrum disorder, hypotonia, hypoglycemia and so on. The variation of MTOR gene is the cause of Smith-Kingsmore syndrome.
Autism Spectrum Disorder ; Female ; Humans ; Hypoglycemia ; Intellectual Disability/genetics* ; Megalencephaly/genetics* ; Muscle Hypotonia ; Mutation ; Retrospective Studies ; TOR Serine-Threonine Kinases/genetics*

ObjectiveTo resolve the problems related to the abnormal interpretations of real-time fluorescence polymerase chain reaction （PCR） results for tri-allele， to formulate the interpretation methods of real-time fluorescence PCR by referring to multiplex PCR fragment analysis， so as to obtain an accurate， simple and cheap detection method for ABCB1 tri-allele. MethodsA total of 2 794 DNA samples were collected from Xi'an Mental Health Center from March 2020 to March 2021， and 5% of which were selected as experiments. Real-time fluorescence PCR method and multiplex PCR fragment analysis method were performed respectively. According to the comparison of Ct values of PCR curves and the comparison of base peak intensity in multiplex PCR fragment analysis， comparison and analysis were conducted on the interpretation results of the two methods， and samples with different interpretation results were verified， thereafter， PCR interpretation method was formulated. ResultsA total of 139 samples were collected， of which 120 alleles and 19 tri-allele were detected. The results of allele detection by two methods were absolutely consistent. In combination with the results of multiplex PCR fragment analysis， a method for the interpretation of real-time fluorescence PCR for 19 cases of tri-allele was developed as follows： when ∣∣Ct._G－Ct._T∣－∣Ct._G－Ct._A∣∣ in amplification curve was less than 3， the interpretation results were the combination of the base pairs with small Ct values； when ∣∣Ct._G－Ct._T∣－∣Ct._G－Ct._A∣∣ was greater than or equal to 3， the interpretation results were homozygotes from the base pairs with minimum Ct values. According to the interpretation method， the results of real-time fluorescence PCR were revised， and it showed 1 case of G/G， 1 case of A/A， 4 cases of T/G， 5 cases of T/A and 8 cases of T/T， which were consistent with the results of multiplex PCR fragment analysis. ConclusionReferring to the multiplex PCR fragment analysis method， the interpretation of ABCB1 tri-allele by real-time fluorescence PCR is developed， and the two interpretation methods are in good agreement.

AIM: To elucidate the effect of histone deacetylase(HDAC)inhibitor suberoylanilide hydroxamic acid(SAHA)on the proliferation of choroidal melanoma(CM)cell line C918 and to explore the related mechanism.METHODS: Inverted fluorescence microscope was used to observe the effect of different concentrations of SAHA(0.625, 1.25 or 2.5 μmol/L)on the morphology of C918 cell. The cell viability was detected by cholecystokinin octapeptide(CCK-8)assay. Plate clone formation assay and EdU staining were carried out to measure the effect of SAHA on the cell proliferation. Meanwhile, the expressions of cell proliferation-related proteins including c-Myc, CyclinA2 and CDK2, and histone deacetylase 7(HDAC7)and fibroblast growth factor 18(FGF18)were detected by Western blot.RESULTS: Compared with the control group, the cell density was reduced in SAHA. SAHA could also promote cell shrinkage, and the inhibition on cell was in a concentration-dependent manner. CCK-8 assay showed that SAHA treatment decreased cell viability in a dose-dependent manner and the inhibition rate was 80% when SAHA at 2.5 μmol/L. Compared with the control group, Western blot showed that SAHA could suppress the expression of cell proliferation proteins including c-Myc, CyclinA2 and CDK2 in a dose-dependent manner. In addition, 1.25 μmol/L SAHA significantly decreased the numbers of EdU staining positive cells and cell clones. More importantly, SAHA could dose-dependently decrease the expression of HDAC7 and FGF18 compared with control group.CONCLUSION: SAHA could inhibit the proliferation of CM cell line C918 by inhibiting the HDAC7/FGF18 signaling pathway.

AIM: To investigate the efficacy and safety of 577nm subthreshold micropulse laser(SML)in patients with chronic central serous chorioretinopathy(CSC).METHODS: Prospective single-arm case study. There were 24 patients(32 eyes)with chronic CSC treated by using 577nm SML. A total of 6mo was followed up after treatment, the best corrected visual acuity(BCVA, LogMAR)and optic coherence tomography(OCT)were performed at each month. Fluorescein fundus angiography(FFA)was performed at 1,3 and 6mo after treatment.RESULTS: The BCVA was 0.46±0.34 and central retinal thickness(CRT)was 259.15±57.54μm of 32 eyes at baseline period. After treatment of SML at 1mo, there was no subretinal fluid in 21 eyes(66%), and subretinal fluid was observed in 11 eyes(34%). The BCVA was 0.43±0.27, the CRT was 232.13±42.58μm. CRT was significantly reduced compared to the baseline period(P<0.05). After treatment of SML at 3mo, subretinal fluid and fluorescein leakage from retinal pigment epithelium(RPE)were observed in 5 eyes(16%). The BCVA was 0.39±0.26 and CRT was 231.26±49.25μm. The CRT was still significantly lower than baseline period(P<0.05). The 5 eyes with subretinal fluid and leaked fluorescein were treated by using SML again. After treatment at 6mo, subretinal fluid was observed in only 3 eyes(9%). The BCVA was 0.19±0.47 and CRT was 217.25±35.54μm. Both of the BCVA and CRT showed a significant improvement from the baseline period(P<0.05). CONCLUSION:SML seems effective and safe for treatment of chronic CSC. It may be an alternative way for treatment of chronic CSC.

AIM: To observe the macular retina vascular density of patients with acute central retinal artery occlusion(CRAO)by optical coherence tomography angiography(OCTA)and to analyze the relationship with retinal circulation time of these patients on fundus fluorescein angiography(FFA).METHODS: Retrospective case analysis. A total of 43 patients(43 eyes)from January 2019 to March 2021 admitted to Shaanxi Eye Hospital with clinical diagnosis of acute CRAO(course of disease ≤7d)were included. All patients underwent FFA, OCTA, best corrected visual acuity(BCVA)examination and thrombolytic therapy. The patients with enhanced or unchanged retinal blood flow signal in the affected eye showed on OCTA before treatment compared with the contralateral healthy eye were assigned to group A, and the patients with retinal blood flow signal of the affected eye was lower than that in the contralateral healthy eye by OCTA were assigned to group B. Image J software was used for OCTA image processing to evaluate the macular retina vascular density before treatment, and FFA examination was performed to record the affected retinal circulation time before treatment.RESULTS: The retinal vascular density of patients in the affected eye and the contralateral healthy eye in group A was higher than that in group B(25.08%±4.40% vs 12.24%±3.41%, 25.72%±2.70% vs 17.89%±4.55%, all P<0.001), the filling time(FT)of retinal artery trunk to terminal in group B [96(20.50, 193.50)s] was longer than that in group A [11(5.00, 19.50)s](P<0.001). The course of disease, the retinal vascular density of contralateral healthy eye and FT were related factors of retinal vascular density of the affected eye(all P<0.05), and the influence strength order was FT, course of disease and the retinal vascular density of contralateral healthy eye, in which the course of disease and FT was negatively correlated with the retinal vascular density.CONCLUSION: OCTA retinal vascular density was correlated with FFA retinal circulation time in CRAO patients.

Eligible studies were searched in Cochrane library, Pubmed, Medline, CBM, CNKI and VIP databases from establishment to June 2014. Two researchers independently identified 7 randomized controlled trials (RCTs) and extracted data of Brucea javanica oil emulsion injection combined with chemotherapy. Based on the published studies, the researchers analyzed them by RevMan 5.2 software and investigated the efficacy and safety of Brucea javanica oil emulsion injection combined with chemotherapy for patients with advanced gastric cancer by Meta analysis. Meta analysis showed that, compared with the simple chemotherapy, Brucea javanica oil emulsion injection combined with chemotherapy could increase objective response rate by 43%(RR=1.43, P<0.001). In addition, the incidence of neutropenia (RR=0.56, P<0.001), thrombocytopenia (RR=0.64, P=0.02), nausea, vomit (RR=0.66, P=0.002) decreased in these patients. However, the quality of life was not improved significantly in gastric carcinoma patients with combined therapy (RR=1.36, P=0.07). The paper suggested Brucea javanica oil emulsion injection combined with chemotherapy could increase efficacy and safety, which might be a promising therapy for patients with advanced gastric cancer.

OBJECTIVE: To observe the efficacy and safety of tocilizumab against refractory systemic onset juvenile idiopathic arthritis(SoJIA). METHODS: A prospective follow-up study of 16 patients with refractory active SoJIA patients with or with tocilizumab after treatment of clinical disease activity indicators and safety. The ANOVA was used for statistical analysis. RESULTS: After 2 weeks,12 weeks and 52 weeks of treatment,the levels of white blood cells,erythrocyte sedimentation rate and hypersensitive C-reactive protein were significantly decreased,and there were statistically significant differences(F=26.25、145.70、517.96,P<0.05). JADAS27 was significantly decreased after 2 weeks,12 weeks and 52 weeks of treatment with tocilizumab(the score being 23.09±3.46,8.19±2.63,4.25±2.86 and 2.63±1.54),the difference being statistically significant(P<0.05). Some children had adverse reactions,2 cases of skin abnormalities,1 case of white pityriasis,1 case of skin infection;3 cases of liver enzyme abnormalities;2 cases of leukopenia. CONCLUSION: Tocilizumab can improve the condition of children with SoJIA in rapid and obvious way,and medium and longterm security and tolerance was good. The duration of tocilizumab therapy should be carefully assessed.