ObjectiveTo investigate the developmental characteristics of gross motor skills and executive functions, and the correlation between them in school-age children with attention deficit hyperactivity disorder (ADHD). MethodsFrom November, 2020 to May, 2021, 90 children with ADHD were recruited from Peking University Sixth Hospital and Beijing Haidian Wanquan Primary School, and other 90 children with normal development from this primary school were recruited matched their age and gender. Gross motor skills were assessed with the Test of Gross Motor Development in Children, Third Edition (TGMD-3), and inhibitory control, working memory, and cognitive flexibility were assessed with Stroop Color Words Test (SCWT), Rey-Osterrich Complex Figure Test (ROCFT) and Trail Making Test (TMT), respectively. ResultsThe TGMD-3 score was significantly lower in children with ADHD than in normal children (t = -6.275, P < 0.001), while the test results of SCWT, ROCFT and TMT were worse (|t| ≥ 1.986, P ≤ 0.05). The TGMD-3 score of children with ADHD was negatively correlated with the word sense reaction time (r = -0.261), the number of word sense errors (r = -0.404) and the number of color errors (r = -0.326) (P < 0.05), positively correlated with the delayed structural memory scores (r = 0.228) (P < 0.05), and negatively correlated with the TMT-A reaction time (r = -0.255), the number of TMT-A errors (r = -0.329), TMT-B reaction time (r = -0.214) and the number of TMT-B errors (r = -0.474) (P < 0.05). Stratified linear regression analyses showed that the TGMD-3 score of children with ADHD was significant only in predicting test results for inhibitory control and cognitive flexibility (P < 0.05), with explanations of 8.7% and 22.5%, respectively. ConclusionDevelopments of both gross motor skills and executive function delay in children with ADHD, and there is a relation between them, especially the level of gross motor skills relating to the developments of inhibitory control and cognitive flexibility.

Objective: To investigate the molecular transmission network characteristics of HIV-1 among men who have sex with men (MSM) in Shaoxing City, Zhejiang Province, so as to provide insights into AIDS prevention and control among MSM. Methods: Newly reported HIV/AIDS cases among MSM in Shaoxing City were selected from January 2021 to September 2023. Plasma samples before the antiviral treatment were collected. The HIV-1 pol gene was amplified using reverse transcription PCR and nested PCR to construct phylogenetic trees for gene subtype analysis. The HIV-TRACE method was used to construct a molecular transmission network with a genetic distance of 1.5% to analyze clustering and the characteristics of cases within molecular clusters. Results: A total of 216 HIV/AIDS cases among MSM were included, and 179 qualified sequences were obtained. The predominant HIV-1 subtypes were CRF07_BC and CRF01_AE, with 95 and 66 cases, respectively. At 1.5% genetic distance, 20 molecular clusters were formed, with 61 nodes and 58 edges. A total of 61 sequences were connected to the transmission network (34.08%). HIV/AIDS cases among MSM from all the counties (cities, districts) in Shaoxing City were included in the network. There was the largest molecular cluster with ≥10 nodes, involving 12 cases from five counties (cities, districts), 3 medium-sized molecular clusters with 4 to 5 nodes, and the 16 small-sized molecular clusters with 2 or 3 nodes. Seven cases with high risk of transmission, each with ≥4 edges, were all CRF07_BC subtypes. Among them, two cases were from the large molecular cluster, and five cases were from the same molecular cluster composed of cases from Shengzhou City and Xinchang County. Conclusions The predominant HIV-1 subtypes among MSM in Shaoxing City were CRF07_BC and CRF01_AE. There was cross-regional HIV transmission, and potential transmission risk might exist in Shengzhou City and Xinchang County.

Objective:To analyze the characteristics of the molecular transmission network of newly-diagnosed human immunodeficiency virus type 1 (HIV-1) infected individuals in Shaoxing City, Zhejiang Province, and to provide evidence for epidemic trend and prevention.Methods:The plasma samples from 423 antiretroviral-naive HIV-1/acquired immunodeficiency syndrome patients from August 2018 to December 2019 were collected, and the pol gene fragments of HIV-1 from 375 samples were amplified by reverse transcription polymerase chain reaction (PCR) and nested PCR. The phylogenetic tree was constructed to analyze the molecular transmission network for subtypes and different gene distances by MEGA 6.0 software, HyPhy software and Cytoscape 3.7.2. Mutations on drug resistance was analyzed by online software tool of the HIV drug resistance database of Stanford University. Results:Eight subtypes were found in the 375 samples. Circulating recombinant form (CRF)07_BC(215/375, 57.33%) and CRF01_AE(103/375, 27.47%) were the major subtypes, followed by CRF85_BC, CRF55_01B, B, C, and CRF01_AE/B subtypes. One hundred and ninety-four individuals (51.73%) were connected to the transmission network at 1.50% genetic distance with 24 clusters. One hundred and twenty-nine individuals (34.40%) were connected to the transmission network at 0.75% genetic distance with 30 clusters, and 35 elderly patients were clustered in CL1.Forty-two cases had surveillance drug resistance mutation (SDRM), the prevalence of transmitted drug resistance was 11.20%(42/375). Thirty-eight cases had the drug mutations to non-nucleoside reverse transcriptase inhibitor, including K103 N(32/375, 8.53%), K103 S(4/375, 1.07%), Y188 L(1/375, 0.27%) and G190 A(1/375, 0.27%); four cases had the mutations to protease inhibitor, including M46 I(3/375, 0.80%) and V82 A(1/375, 0.27%). The cluster C2 sequences carried a high proportion of resistant mutations (94.29%, 33/35). Conclusions:HIV-1 subtypes in Shaoxing City are diverse and the CRF07_BC subtype spreads rapidly. The elderly patients with drug resistance genes in cluster CL1 at 0.75% gene distance need to be intervened immediately to prevent the drug resistance virus spread.

Objective:To investigate the clinical features, imaging features, gene diagnosis, treatment and prognosis of autosomal dominant lateral temporal epilepsy (ADLTE) with heterozygous RELN mutation.Methods:Clinical data of an ADLTE family caused by a heterozygous mutation in the RELN gene diagnosed in September 2019 at Qilu Hospital of Shandong University were collected. The clinical characteristics of ADLTE were analyzed, and literature review was conducted.Results:The male proband, 22 years old, was admitted with the clinical manifestations including seizures begun at temporal lobe, which specifically manifested as a sudden emergence of binaural hum, lasting for more than 10 seconds, and the symptoms can self-recover quickly. Half a month later, generalized tonic-clonic seizures attacked subsequently after a similar auditory aura. There were no abnormal findings in interictal electroencephalography (EEG) and magnetic resonance imaging (MRI). Following the family history, his father had similar auditory symptoms around the age of 20, and occasional secondarily generalized tonic-clonic seizures appeared. Antiepileptic drug can control better. The whole exome sequencing of three people in the family revealed that both the proband and his father had NM-005045: c.6068T>C heterozygous mutation in the RELN gene.Conclusions:ADLTE mostly occurs in juveniles or early adulthood. The main clinical manifestations are focal seizures with auditory auras, which can be followed by generalized tonic-clonic seizures. There are no abnormal findings in the interictal EEG and MRI. ADLTE is sensitive to drug treatment and has good clinical prognosis. The study identified a novel heterozygous mutation NM-005045: c.6068T>C in RELN gene, which is responsible for the development of ADLTE.

Objective: To explore the clinical and radiological features of myelin oligodendrocyte glycoprotein (MOG) antibody associated disease. Methods: The clinical data of 22 MOG antibody associated disease cases treated in the Department of Neurology, Qilu Hospital of Shandong University from January 2017 to June 2019 were retrospectively analyzed. The clinical data of MOG antibody associated disease were summarized, including clinical and imaging features. Results: Of the 22 included patients with MOG antibody associated disease, the average age was 38.5 years, 13 were male and nine were female. Among them, 11 cases manifested as aquaporin-4 (AQP4)-negative neuromyelitis optica spectrum disorder (NMOSD), four cases optic neuritis, two cases transverse myelitis, one case acute disseminated encephalomyelitis (ADEM), two cases cortical encephalitis and two cases vestibular neuronitis. Magnetic resonance imaging (MRI) results showed that multiple anatomical areas were involved. Among the nine patients with optic nerve involvement, five patients had longitudinally extensive optic nerve lesions, which were longitudinally enhanced. In eight patients, MRI lesions in the spinal cord showed mostly long or short segments involvement, involving 2-5 spinal cord segments. Five cases involved the cervical spinal cord, six cases involved the thoracic spinal cord, and one case involved the lumbar spinal cord. Brain MRI abnormalities were found in 13 cases and the lesions were mostly patchy and point-shaped. MRI lesions demonstrated T₂ hyperintensity and some of them could be strengthened, which may involve the basal ganglia, thalamus, radiographic crown, frontal temporal lobe, brain stem and other parts. Among them, 16 patients were sensitive to high-dose intravenous/oral methylprednisolone in the acute phase. Seven patients had recurrence after two months to two years of follow-up. Conclusions MOG antibody associated disease include multiple manifestations. Among them, AQP4-negative NMOSD is the most common form. The clinical manifestations of patients showed diversity. Imaging is characterized by multiple parts involvement such as optic nerve, spinal cord, and brain. Most patients are sensitive to high-dose intravenous/oral methylprednisolone, and have a good prognosis in the acute phase, but some patients may relapse.

Objective : To estimate the risk threshold of route index（RI）and mosq-ovitrap index（MOI）based on Breteau index（BI）,as supplements for dengue fever risk monitoring in specific habitats. Methods : Two towns and two streets were selected from nine towns（streets）in Jiashan County,and then one village（community）was selected from each of them as a Aedes albopictus monitoring site. The BI,RI and MOI were employed at the same time and area from April to October in the year 2018. Linear regression models were built with RI,MOI and BI to calculate the dengue risk threshold of RI and MOI according to BI. Results : The linear regression model of BI（X）and RI（Y）was Y=0.145+0.662X（P<0.05）,of BI（X）and MOI（Y）was Y=3.423+0.524X（P<0.05）. If BI=5（having risk of transmission of dengue fever）,then RI=3.455（95%CI：1.717-5.198）,MOI=6.043（95%CI：-0.327-12.417）. If BI=10（having risk of outbreak）,then RI=6.765（95%CI：5.018-8.518）,MOI=8.663（95%CI：2.260-15.071）. If BI=20（having risk of epidemic）,then RI=13.385（95%CI：11.326-15.453）,MOI=13.903（95%CI：6.352-21.461）. Conclusion The dengue fever risk threshold of RI estimated by BI had a narrow 95%CI and could be applied for dengue fever risk assessment,while the risk threshold of MOI had a wide 95%CI and the application value needed further study.

Objective:To seek survival-related genes in glioblastoma and establish a survival-gene signature for predicting prognoses of glioblastoma using public databases.Methods:Three independent glioma databases (GEO GSE53733,CGGA,TCGA) with whole genome expression data were included for analysis.Survival-related genes were obtained by comparing the long-term (＞36 months) and short-term (＜12 months) survivors in the database GSE53733.CGGA was used as the training set to develop the signature and TCGA was used asthe validation set.Cox regression analysis and linear risk score assessment were conducted to look for prognostic signatures with survival-related genes.Principal components analysis,gene set enrichment analysis (GSEA),gene ontology (GO) and protein-protein interaction (PPI) analysis were performed to explore distinct expression profiles between risk grouped glioblastoma.Results:We totally found 211 survival-related genes and developed a signature with 17 survivalrelated genes for prognosis of glioblastoma.Based on this signature,the low-risk group had longer survival time while the high-risk group had shorter survival time.Additionally,the expression profiles between the high-risk and low-risk glioblastoma were different.Functional annotations revealed that the genes enriched in the high-risk glioblastoma were involved in immune systems and processes of extracellular matrix (ECM).Conclusion:The novel survival-gene signature can predict high-risk glioblastoma with shorter survival time,enhance immunosuppressive features,and increased invasion preferences.

OBJECTIVETo analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.

METHODSClinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing.

RESULTSThe patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c.1522A to G and c.1229C to T, which were inherited from her father and mother, respectively.

CONCLUSIONSLC26A4 c.1522A to G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.

Adult ; Amino Acid Sequence ; Child ; Exons ; Female ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Molecular Sequence Data ; Pedigree ; Vestibular Aqueduct ; abnormalities

Objective To evaluate the treatment outcomes and toxicities of intensity-modulated radiation therapy (IMRT) combined with chemotherapy for children and adolescents with nasopharyngeal carcinoma.Methods Forty-three nasopharyngeal carcinoma patients less than 19 years old were recruited between April 2010 and April 2016.All patients were treated with IMRT (total dose 61.2-76 Gy) combined with cisplatin based chemotherapy.The Kaplan-Meier test was used to calculate overall survival (OS) and progression-free survival (PFS).The patient's clinical characteristics,side effects and longterm effects of treatment were retrospectively analyzed.Results Among 43 patients,there were 29 (67.4％) male and 14 (32.6％) female,and the median age was 14 years old (range,6-18 years).According to AJCC 7thstaging system,2 patients were in stage Ⅱ,26 in stage Ⅲ,7 in stage ⅣA and 8 in stage Ⅳ B.All patients were confirmed as non-keratinizing carcinoma.The positive rates of EB virus VCAIgA was 53.8％ (7/13),and Rta-IgG was 60.0％ (6/10) before treatment.The median radiation dose was 70 Gy (range,61.2-76 Gy) to the primary tumor.Thirty-three (76.7％) patients received neoadjuvant chemotherapy,with 20 (46.5％) and 36 (83.7％) patients treated by concurrent and adjuvant chemotherapy,respectively.With a median follow-up of 24 months (range,3-76 months),the 5-year OS and PFS ratios were 75.3％ and 64.7％,respectively.There were 5 patients (11.6％) occurred to bone metastasis within 2 years after treatment.Hypothyroidism was reported in 47.4％ (9/19) patients after IMRT.Conclusions Nasopharyngeal carcinoma in childhood and adolescence is mostly locally advanced diseases with poor differentiation.IMRT combined with chemotherapy produce a well treatment outcome with good tolerance in children and adolescents patients.The most common treatment failure bone metastasis.Radiation-induced hypothyroidism is common.

Objective To apply the MRI T2 signal intensity of hippocampal subfield in patients with amnestic mild cognitive impairment (aMCI) as early imageology. Methods From October, 2014 to August, 2015, 20 aMCI patients accepted cognitive training (training group), 20 aMCI patients accepted speech communication (speech group), and 20 age-and gender-matched healthy old people (control group) were scanned with MRI using FSE-T2 sequence. The margin of hippocampal subfields were outlined manually for each side to measure the T2 sig-nal intensity. The correlation between hippocampal T2 signal intensity and the scores of Mini-Mental State Examinatlon (MMSE) was ana-lyzed in the training group. Results Before treatment, T2 signal intensity in the bilateral hippocampal head was significantly high in the aM-CI patients compared with that in the control group (P<0.05). After treatment, T2 signal intensity in left hippocampal head decreased in the training group compared with that in the speech group (P<0.05), similar to the control group (P>0.05). There was negative correlation be-tween left hippocampal head's T2 signal intensity and the scores of MMSE in the training group before and after treatment (r=-0.61, r=-0.54, P<0.05). Conclusion The T2 signal intensity in left hippocampal head may respond to the cognitive function in patients with aMCI in the early stage, that could be used for diagnosis and evaluation in clinic.