Objective To evaluate the value of an optimized three-dimensional inversion-recovery with real reconstruction (3D-real IR) sequence with a longer repetition time (TR, 16 000 ms) based on modulated flip angle technique in refocused imaging with extended echo train (MATRIX) in the endolymphatic hydrops (EH) imaging after intratympanic gadolinium (Gd) administration, and to compare it with a conventional 3D-real IR based on the turbo spin echo (TSE) sequence. Methods From July 2021 to November 2022, twenty-seven patients received both the conventional and optimized 3D-real IR sequences after bilateral intratympanic Gd administration. Images of the two sequences were qualitativly evaluated and compared. Contrast-to-noise ratio (CNR), signal-to-noise ratio (SNR), and area ratio of endolymph against the total lymphatic space from the two sequences were measured and compared. Results 14(25.9%) ears with insufficient contrast for the EH diagnosis on the conventional sequence were clearly displayed on the optimized sequence. Image score, CNR and SNR of the optimized sequence were significantly higher than those of the conventional sequence (P ＜ 0.001). The scanning time of two sequences was similar. The area ratio of endolymph against the total lymphatic space in the cochlear was significantly higher on the conventional 3D-real IR than that on the optimized 3D-real IR (P ＜ 0.001); there was no statistical difference in the vestibule between the two sequences. Conclusions Compared with conventional sequence, optimized 3D-real IR sequence with a longer TR may be better for evaluation of EH after intratympanic Gd administration.

Objective To investigate the value of artificial intelligence-assisted compressed sensing (ACS) technology for intravenous gadolinium contrast-enhanced magnetic resonance imaging of the inner ear using three-dimensional fluid-attenuated inversion recovery (3D-FLAIR) sequence. Methods The patients received gadolinium contrast-enhanced magnetic resonance imaging using ACS and united compressed sensing (uCS) 3D-FLAIR at Zhongshan Hospital, Fudan University from January to November 2024 were prospectively enrolled. The repetition time was 16 000 ms, and acquisition time was 6 min 40 s and 10 min 24 s in ACS 3D-FLAIR and uCS 3D-FLAIR, respectively. The images on the two sequences were evaluated independently by two radiologists. The image quality of the two sequences was subjectively evaluated and compared. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were compared between the two sequences. The grading consistencies using two sequences and between the two doctors were analyzed. Results There was no statistically difference in subjective score of image quality between the two sequences. SNR and CNR of the ACS 3D-FLAIR sequence were significantly higher than those of the uCS 3D-FLAIR sequence (P＜0.001). The kappa values of grades of cochlear and vestibular endolymphatic hydrops were 0.942 and 0.888 using two sequences (P＜0.001). The kappa values of grades of cochlear and vestibular endolymphatic hydrops using the ACS 3D-FLAIR sequence between the two doctors were 0.784 and 0.831, respectively (P＜0.001); the kappa values of grades of cochlear and vestibular endolymphatic hydrops using uCS 3D-FLAIR sequence between the two doctors were 0.725 and 0.756, respectively (P＜0.001). Conclusions ACS 3D-FLAIR could provide higher SNR and CNR than uCS 3D-FLAIR, and is more suitable for intravenous gadolinium contrast-enhanced magnetic resonance imaging of the inner ear; the endolymphatic hydrops grades using ACS 3D-FLAIR is similar to use uCS 3D-FLAIR.

BackgroundSchizophrenia is a complex， chronic and severe mental disorder， and the pathogenesis of which has not been fully elucidated. The abnormalities in lipid metabolism and circulating metabolomes have already been implicated in the pathophysiology of schizophrenia. However， available studies have mainly focused on a few liposomes and circulating metabolites， failing to systematically reveal the mediating role of circulating metabolomes in the causal relationship between liposomes and schizophrenia. ObjectiveTo uncover mediating role of circulating metabolomes in the causal relationship between liposomes and schizophrenia， thereby providing biomarkers and potential therapeutic targets for the prevention and treatment of schizophrenia. MethodsData from Genome-Wide Association Studies （GWAS） were analyzed， taking data on 179 liposomes as exposure variables， data on 123 circulating metabolites as intermediate variables， and data on schizophrenia as outcome variable. A two-step， two-sample Mendelian randomization analysis was conducted using the inverse-variance weighted （IVW）， MR- Egger， Weighted median， and Weighted mode methods to study the causal relationship of liposomes with schizophrenia and the mediating role of circulating metabolomes in the relationship. ResultsIVW model identified 8 lipids associated with schizophrenia without reverse causality. There were 5 circulating metabolomes strongly associated with schizophrenia. Acetate played a significant mediating role in the causal relationship between phosphatidylinositol （18：0_18：2） and schizophrenia （P=0.023， 95% CI： 0.036~0.532）， accounting for 28.4% of the causal relationship. ConclusionThis study demonstrates a causal relationship between liposomes and schizophrenia， with phosphatidylinositol being a risk factor in the progression of schizophrenia， and acetate playing a mediating role in this process. ［Fund by National Natural Science Foundation of China General Program （number， 82271546）； Shanxi Merit Funding for Overseas Students Sci-Tech Activities Project （number， 20240041）； Shanxi Province Science and Technology Innovation Leading Talent Team Project （number， 202304051001049）； Shanxi Scientific Research Foundation for the Returned Overseas Chinese Scholars （number， 2022-190）； "Six Measures for Health Care Prosperity" Specialized Research Program （number， Y2024008）］

Objective:To validate and compare the value of the Status Epilepticus in Pediatric Severity Score (STEPSS) versus PEDSS in assessing the short-term prognosis of children with status epilepticus (SE).Methods:Clinical data of 152 children with SE hospitalized at the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2022 were retrospectively analyzed.According to the STEPSS and PEDSS scores, children with SE were scored and their prognosis was predicted.Receiver operating characteristic (ROC) curves of the 2 scales in assessing the short-term prognosis of SE in children were plotted, and the area under the curve (AUC), optimal cut-off, sensitivity and specificity were calculated, thus validating and comparing the value of the STEPSS versus PEDSS in assessing the short-term prognosis of children with SE.Results:Of the 152 children with SE, 90 were male and 62 were female, with the age of (5.8±3.9) years (1 month to 15 years). There were 112 cases with good prognosis and 40 cases with poor prognosis, involving 13 deaths.The AUC of STEPSS and PEDSS scores in predicting the death in children with SE were 0.908(95% CI: 0.848-0.967) and 0.887(95% CI: 0.831-0.942), respectively, both with the optimal cut-off value of 4.The sensitivity of STEPSS and PEDSS scores in predicting the death in children with SE were 0.740 and 0.846, respectively, and the specificity were 0.745 and 0.835, respectively.There was no significant difference in predicting the death in children with SE between the 2 scales ( P>0.05). In predicting adverse outcomes, the AUC of the STEPSS and PEDSS scores were 0.869(95% CI: 0.800-0.937) and 0.926(95% CI: 0.873-0.979), respectively, both with the optimal cut-off value of 3.The sensitivity of STEPSS and PEDSS scores in predicting adverse outcomes in children with SE were 0.827 and 0.900, respectively, and the specificity were 0.732 and 0.866, respectively.There was significant difference in predicting the adverse outcomes in children with SE between the 2 scales ( P<0.05). Conclusions:Compared with the STEPSS, the PEDSS has a higher application in predicting the short-term treatment outcome of children with SE, which can be used as a routine method to assess the prognosis of children with SE.

Objective:To evaluate the value of a three-dimensional inversion-recovery with real reconstruction (3D-real IR) sequence with an ultralong repetition time (TR) for the endolymphatic hydrops (EH) of Meniere disease (MD) after intravenous gadolinium administration, and compare it with a heavily T 2-weighted three-dimensional fluid-attenuated inversion recovery (hT 2-3D-FLAIR) sequence. Methods:From July 2021 to July 2022, 52 definite MD patients (58 ears) were retrospectively enrolled at Zhongshan Hospital, Fudan University. The 3D-real IR with an ultralong TR (16 000 ms) and hT 2-3D-FLAIR sequences were performed four hours after intravenous single-dose gadolinium administration. The image quality of the two sequences was rated. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were measured in the two sequence. The EH of cochlear and vestibular was graded, and EH detection rates were calculated. Scores of the two sequences were compared using the paired Wilcoxon signed rank test. Paired t test was used to compare the differences of the SNR and CNR. McNemar test was performed to compare the EH detection rate between the two sequences. Results:The score of the 3D-real IR [3 (3, 4)] was significantly higher than that of the hT 2-3D-FLAIR [2.5 (2, 3), Z=-6.06, P<0.001]. No significant difference was found in SNR of 3D-real IR and hT 2-3D-FLAIR (11.4±6.5 and 12.3±3.7, t=-1.38, P=0.175). CNR of the 3D-real IR (21.7±9.3) was significantly higher than that of the hT 2-3D-FLAIR (9.7±3.8, t=10.67, P<0.001). Using 3D-real IR sequence, the EH detection rate of cochlear (89.7%, 52/58) was higher than using hT 2-3D-FLAIR (67.2%, 39/58, χ 2=11.10, P<0.001). No significant difference was found in the EH detection rate of vestibular between 3D-real IR (77.6%, 45/58) and hT 2-3D-FLAIR (74.1%, 43/58, χ 2=0.50, P=0.500). Conclusion:Compared with hT 2-3D-FLAIR sequence, the 3D-real IR with an ultralong TR can improve the depiction of EH in MD patients after intravenous single-dose gadolinium administration. It can provide higher image quality and detection rate of EH.

Objective:To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome.Methods:The data of 3 children with febrile infection-related epilepsy syndrome admitted to the First Affiliated Hospital of Zhengzhou University from May to June 2019 were collected retrospectively, and their clinical characteristics, diagnosis, treatments and prognosis were summarized in combination with relevant literature.Results:The age of onset was 6-9 years old.The time interval from fever to first convulsion was 4-7 days, and they progressed to status epilepticus within 24 hours.The seizures were mainly multifocal seizures.Cerebrospinal fluid laboratory examination was normal.Electrocardiogram shows diffuse slow wave activity as the background, and epileptic waves dominated by the temporal area.Cranial magnetic resonance imaging showed signs of edema in 2 cases during the acute phase.All patients were resistant to multiple (4-5) anti-epileptic drugs, but high-dose anesthetic drugs can effectively terminate status epilepticus.All cases developed into refractory epilepsy, 2 cases had cognitive impairment and 1 case had movement impairment after 1 year.Conclusion:Febrile infection-related epilepsy syndrome often occurs in school-age children who have been physically healthy, which was included by fever.The seizures are explosive and refractory in febrile infection-related epilepsy syndrome, and it lacked specific laboratory indicators.High-dose anesthetics can effectively terminate status epilepticus, but it always has a poor prognosis.

Objective:To explore the genetic basis for a newborn with familial hemophagocytic lymphohistiocytosis type 3 (FHL3).Methods:Clinical and laboratory data of the newborn and his family members were reviewed. Whole exome sequencing (including and flanking intronic regions) was carried out. Candidate variants were verified by Sanger sequencing. Wild type and mutant minigene vectors containing exon 23, intron 23 and exon 24 of the UNC13D gene were constructed and transfected into HEK293T cells by lipofectamine reagent. Reverse transcription PCR was carried out to verify the splicing of the minigenes. Results:Pedigree analysis and clinical examinations indicated that the child has autosomal recessive FHL3. DNA sequencing revealed that he has harbored c. 118-308 (IVS1)C>T and c. 2298+ 1 (IVS23)G>A variants of the UNC13D gene, which were respectively inherited from his father and mother, which constituted compound heterozygosity and were both predicted to be pathogenic. Minigene experiment confirmed that the c. 2298+ 1(IVS23)G>A variant has resulted skipping of exon 23 (-207nt) resulting in a truncated protein. Conclusion:The c. 118-308(IVS1)C>T and c. 2298+ 1(IVS23)G>A compound heterozygous variants of the UNC13D gene probably underlay the FHL3 in this child, which has resulted in low expression as well as abnormal splicing of UNC13D mRNA.

Objective:To discuss the incidence rate and influencing factors of postencephalitic epilepsy (PE) in children with viral encephalitis at acute symptomatic seizure(ASS).Methods:The data of 132 children with ASS in the First Affiliated Hospital of Zhengzhou University from September 2013 to July 2018 were retrospectively analyzed, and the patients were divided into PE group (62 cases) and non-PE group (70 cases) according to whether they had PE at final follow-up.The risk factors of PE in children with ASS were analyzed using the multivariate Logistic regre-ssion methods. Results:The incidence of PE in children with ASS was 46.97% (62/132 cases). There were statistically significant differences in terms of psychological and behavioral abnormalities[19.4%(12/62 cases) vs.2.9%(2/70 cases)], repetitive seizures (more than 5 seizures) [67.7%(42/62 cases) vs.17.1%(12/70 cases)], status epilepticus (SE) [30.6%(19/62 cases) vs.11.4%(8/70 cases)], generalized seizures [72.6%(45/62 cases) vs.88.6%(62/70 cases)], endotracheal intubation [21.0%(13/62 cases) vs.2.9%(2/70 cases)], the duration of fever [5.5(3.0, 11.0) d vs.3.0(2.0, 6.0) d], the duration in the intensive care unit (ICU) [13(5, 21) d vs.6(3, 8) d], electroencephalography epileptiform discharges [49.1%(27/55 cases) vs.6.8%(4/59 cases)], presence of subcortical involvement on neuroimaging [37.3%(22/55 cases) vs.20.3%(14/59 cases)] in children with ASS between the PE group and the non-PE group(all P<0.05). The multivariate Logistic regression analysis showed that repetitive seizures (more than 5 seizures) ( OR=5.256, 95% CI: 1.538-17.961, P=0.008), SE( OR=6.003, 95% CI: 1.411-25.539, P=0.015), electroencephalography epileptiform discharges ( OR=36.693, 95% CI: 7.031-191.485, P<0.01) and the duration in ICU ( OR=1.170, 95% CI: 1.058-1.298, P=0.002) were the risk factors for PE in children with ASS. Conclusions:The incidence rate of PE in children with ASS is high.Children with ASS are more likely to develop into PE if they have repetitive seizures (more than 5 seizures), SE, electroencephalography epileptiform discharges, and the longer duration in ICU.

Retrospective analysis of the clinical data of a child with type 102 mental retardation caused by DDX3X gene mutation in the pediatric diagnosis of the First Affiliated Hospital of Zhengzhou University in April 2019.A 2 years and 3 months old girl with " delay for more than 1 year" , using second-generation sequencing technology for full exon detection, and the result is DDX3X gene 13 th exon c. 1463G>A hybridization mutation, this is a new mutation.There are no Chinese cases reported with DDX3X gene mutations, and there are 8 related cases were reported in foreign literature, all children have different degrees of intellectual disability.So patients with unexplained intellectual disability(especially female patients) need to be wary of the possibility of DDX3X gene mutation.

Objective To summarize the cLinicaL features of cerebraL venous sinus thrombosis (CVST) in 6 chiLdren, and to improve the understanding of CVST in chiLdren. Methods The risk factors, cLinicaL presentations, Laboratory findings, imaging manifestations, treatments and outcomes of 6 chiLdren (3 maLes, 3 femaLes) with CVST admitted to the Department of Pediatrics, First AffiLiated HospitaL of Zhengzhou University from January 2012 to December 2017 were anaLyzed retrospectiveLy. ResuLts The risk factors of disease were found in 5 cases, incLuding 3 cases of infection, 1 case of L?asparaginase and dexamethasone chemotherapy and 1 case of oraL prednisone aLone. No definite risk factor was found in 1 case. The cLinicaL presentations were headache in aLL cases, vomiting in 3 cases, convuLsion in 2 cases, hemipLegia, photophobia, phonophobia and Limitation of eyebaLL abduction in 1 case respectiveLy. Magnetic resonance imaging (MRI) and magnetic resonance venography (MRV) showed 2 cases of intracraniaL hemorrhage, 2 cases of cerebraL parenchymaL infarction and 2 cases of abnormaL signaL in venous sinus. Thrombus Located in superior sagittaL sinus in 4 cases, transverse sinus in 4 cases, sigmoid sinus in 3 cases and straight sinus in 1 case. After anticoaguLation treatment, headache and vomiting were aLLeviated, and veins were recanaLized in 6 cases. Two cases were diagnosed with eyebaLL abduction Limitation and hemipLegia but did not improve in the short term after treatment. ConcLusions Infection is the main risk factor of CVST in chiLdren and headache is often the cause of medicaL consuLtation. Brain MRI and MRV are heLpfuL in diagnosis and timeLy treatment can improve prognosis.