This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.

This article reported the diagnosis and management of a case of a child with Kabuki syndrome. Kabuki syndrome is characterized by distinct facial features, skeletal anomalies, abnormal skin texture, and intellectual disabilities, and is primarily caused by heterozygous mutations in the lysine methyltransferase 2D(KMT2D) gene. The onset in this patient was insidious, presenting with short stature and intellectual impairment. Genetic testing identified a pathogenic heterozygous variant in the KMT2D gene. This article focuses on analyzing the necessity and appropriateness of growth hormone therapy in children with Kabuki syndrome, and includes a review of relevant literature to improve clinicians′ understanding of this rare condition.

AIM: To detect the expression of P53 and mTOR in pterygium tissues and healthy conjunctival tissues, and to explore the relationship between the expression of P53 and mTOR, and the relationship between the expression of P53 and mTOR and the important clinical features of pterygium.METHODS: The surgical specimens of 43 patients(43 eyes)who underwent pterygium excision and autologous conjunctival transplantation in the First Affiliated Hospital of Shihezi University from November 2022 to May 2023 were collected. Healthy conjunctiva group was selected from the healthy conjunctival tissue that originated from the temporal conjunctiva of 13 patients. Totally 10 pterygium specimens and 6 normal conjunctival specimens were selected and the qPCR was used to detect the mRNA expression levels of P53 and mTOR in pterygium and normal conjunctival tissues. Another 33 cases of pterygium and 7 cases of normal conjunctival tissues were collected and the expression of P53 and mTOR in pterygium and normal conjunctival tissues were detected by immunohistochemistry. IPP6.0 software was used to calculate the average optical density, the correlation between the expression levels of P53 and mTOR, and the correlation between the expression levels of P53 and mTOR and the important clinical features of pterygium were analyzed.RESULTS: According to qPCR results, the mRNA expression levels of TP53 and mTOR in the pterygium group were significantly higher than those in the healthy conjunctiva group(all P<0.05). According to the immunohistochemical staining results, the expression levels of P53 and mTOR proteins in the pterygium group were significantly higher than those in the healthy conjunctiva group(P<0.05). The expression of P53 was positively correlated with the expression of mTOR(r=0.417, P<0.05). The expression of P53 in the group of outdoor activity time > 3 h was higher than that in the group of outdoor activity time ≤3 h(P<0.05). The expression of P53 in the group of pterygium head invasive limbal distance > 2 mm was higher than that in the group of pterygium head invasive limbal distance ≤2 mm(P<0.05). There was no difference in the expression of pterygium between the two groups of patients aged > 40 years and ≤40 years(P>0.05). There was no significant difference in the expression of mTOR between the groups of outdoor activity time > 3 h and ≤3 h, the group of pterygium head invasion distance > 2 mm and ≤2 mm, and the group of > 40 years old and ≤40 years old(all P>0.05). The expression of P53 was positively correlated with the duration of outdoor activities(r=0.484, P<0.01)and the distance of limbal invasion(r=0.479, P<0.01). The expression of mTOR was not correlated with age, duration of outdoor activities, and distance of limbus invasion(all P>0.05).CONCLUSION: The overexpression of P53 and mTOR in pterygium showed a positive correlation, suggesting that the abnormal expression of P53 and mTOR may play a role in the pathogenesis of pterygium, which provides an experimental basis for further exploring the pathogenesis of pterygium; the expression of P53 is positively correlated with the time of outdoor activities and the distance of pterygium invasion. The P53 plays a role in evaluating the severity of pterygium, and provides new ideas for the clinical diagnosis and treatment of pterygium.

Objective:To investigate the epidemiology of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with maintenance hemodialysis (MHD) in Jiangsu province during SARS-CoV-2 pandemic in China from December 7, 2022 to January 27, 2023, and to analyze the influencing factors of all-cause death.Methods:It was a multi-center cross-sectional investigation. Structured questionnaire was used to collect patient information by medical staff of each hemodialysis center (room) as investigators. Part of the demography data and laboratory examination data came from the Jiangsu Province Hemodialysis Data Information System. MHD patients from hemodialysis centers (rooms) at all levels of medical institutions and independent hemodialysis institutions in Jiangsu province during the outbreak of SARS-CoV-2 infection were included, and the clinical characteristics and all-cause mortality of confirmed and suspected cases of SARS-CoV-2 infection were analyzed.Results:Questionnaire surveys and data analysis on 57 278 patients in 407 hemodialysis centers (rooms) were completed, accounting for 90.41% of the total number of MHD patients (63 357 cases) in Jiangsu province during the same period. There were 24 038 cases (41.97%) of SARS-CoV-2 infection and 14 805 cases (25.85%) of suspected infection, which were widely distributed in all dialysis centers in Jiangsu province. After clinical classification of 38 843 confirmed and suspected SARS-CoV-2 infection cases, 3 662 cases were severe and critical cases, accounting for 9.43% of the infected and suspected cases. Among the patients who had completed the questionnaires, there were 1 812 all-cause deaths, with an all-cause mortality rate of 3.16%. Multivariate logistic regression analysis showed that elderly (taking ≤50 years as a reference, 51-59 years: OR=1.583, 95% CI 1.279-1.933, P=0.001; 60-69 years: OR=3.972, 95% CI 3.271-4.858, P<0.001; 70-79 years: OR=7.236, 95% CI 5.917-8.698, P<0.001; ≥80 years: OR=11.738, 95% CI 9.459-14.663, P<0.001), male ( OR=1.371, 95% CI 1.229-1.529, P<0.001), and co-infection with hepatitis B virus (HBV) (positive serum HBV surface antigen, OR=0.629, 95% CI 0.484-0.817, P<0.001) were independent influencing factors for all cause mortality. Receiver-operating characteristic curve analysis showed that the area under the curve for male, age and current HBV infection prediction of all-cause death was 0.529 ( P<0.001), 0.724 ( P<0.001) and 0.514 ( P=0.042), respectively, and the cut-off value for age prediction of all-cause death was 65.5 years old. Compared with patients without HBV infection, MHD patients with HBV infection significantly reduced the proportion of severe and critically ill patients, all-cause hospitalizations and all cause deaths when infected with SARS-CoV-2 (4.99% vs. 6.41%, χ2=6.136, P=0.013; 8.90% vs. 11.44%, χ2=11.662, P<0.001; 2.01% vs. 3.37%, χ2=10.713, P=0.001, respectively). Conclusion:The MHD patients in Jiangsu province are susceptible to SARS-CoV-2. Elderly age and male gender are independent risk factors for death in MHD patients during the epidemic, while the HBV infection may be a protective factor for death of MHD patients infected with SARS-CoV-2.

Objective　To explore the risk factors for neuropsychological impairment in patients with sleep-related hypermotor epilepsy (SHE).Methods　We conducted a retrospective analysis consecutive patient with SHE from the epilepsy center of Tiantan Hospital Affiliated to Capital Medical University and Beijing Fengtai Hospital between May 2015 and May 2019.Patients were divided into two groups:neuropsychological impairment (n=31) and non-neuropsychological impairment (n=37).Patient demographics,clinical data were recorded and analyzed.Multinomial logistic regression analysis was performed to determine the independent risk factors for neuropsychological impairment in patients with SHE.Results　We found that patients in the neuropsychological impairment group had a lower age of onset,a higher seizure frequency,a higher proportion of patients with more interictal epileptiform discharges (IEDs) in sleep than in waking periods,and a higher proportion of patients with potential brain disorder,these differences were statistically significant（P<0.05）.Multivariate logistic regression analysis showed that patients with more IEDs in sleep than in waking periods（OR=17.315，95%CI 3.304~90.746，P=0.001）,a higher seizure frequency（OR=7.493，95%CI 1.416~39.665，P=0.018） were independently associated with neuropsychological impairment in patient with SHE.The higher age of onset（OR=0.862，95%CI 0.777~0.957，P=0.005） was protective factors associated with neuropsychological impairment in patient with SHE（P<0.05）.Conclusion　The patients with a lower age of onset,a higher seizure frequency,a higher proportion of patients with more IEDs in sleep than in waking periods were independently associated with neuropsychological impairment in patient with SHE.Early identification of related risk factors affecting neuropsychological impairment in patient with SHE have great clinical significance for improving their quality of life.

Objective　To explore the risk factors for early deterioration in neurological function/progressive neurological deficit in patients with non-disabling ischemic cerebrovascular events （NICE）. Methods　We conducted a retrospective analysis consecutive patient with non-disabling ischemic cerebrovascular events from the Department of Neurology，the First Affiliated Hospital of Xiamen University between January 2016 and December 2019.Patients were divided into progressive group （n=70） and non-progressive group （n=254） and the term progressive were defined as patients had an increase in National Institutes of Health Stroke Scale（NIHSS） score by ≥2 points within 7-day. Patient demographics，clinical and radiological data were recorded and analyzed. Multinomial logistic regression analysis was performed to determine the independent risk factors for early progression in patients with NICE. Results　On univariate analysis，the incidence of diabetes mellitus，stenosis or occlusion in the corresponding artery，acute infection and new onset ischemic stroke were significantly higher in progressive group than in non-progressive group （P<0.05）.The proportion of higher Fazekas scores （PWMH 2～3，PWMH+DWNH 3～6） in progressive group was significantly higher than that in non-progressive group（P<0.05）. Multivariate logistic regression analysis showed that diabetes mellitus （OR=2.355，95%CI 1.220～4.546，P=0.011），stenosis or occlusion in the corresponding artery （OR=2.542，95%CI 1.405～4.600，P=0.002），acute infection（OR=4.513，95%CI 1.699～11.986，P=0.002），new onset ischemic stroke （OR=2.820，95%CI 1.022～7.781，P=0.045），higher Fazekas scores（PWMH+DWNH 3～6，OR=2.061，95%CI 1.119～3.798，P=0.020；PWMH 2～3，OR=2.046，95%CI 1.096～3.817，P=0.024） were independently associated with early progression in patient with NICE. Conclusion　Diabetes mellitus，stenosis or occlusion in the corresponding artery，acute infection，new onset ischemic stroke，higher Fazekas scores （PWMH+DWNH 3～ 6，PWMH 2～3） may increase the risk of early progression in patient with NICE.

Objective To investigate the effects of propofol on mesenteric artery in SD rats and to observe whether the effect of propofol on the mesenteric artery relaxation is related to the gap. Methods Pressure myograph was used to examine the effect of 18β-GA and 2-APB on the relaxation induced by propofol 1×10 -7 ,3×10 -7 ,1×10 -6 ,3×10 -6 ,1 ×10 -5 ,3 ×10 -5 ,1 ×10 -4 and 3 ×10 -4 mol/L in acutely separated mesenteric arterioles of SD rat.Results The diameter of mesenteric arteri-oles were increased from (208.6±13.4)to (213.5±13.6),(21 9.7±13.2),(226.4±12.5),(234.9 ±12.3),(245.5±13.0),(267.4±1 5.2),(336.2±18.3)and (385.9 ±14.2)μm after application of 1×10 -7 ,3×10 -7 ,1 × 10 -6 ,3 × 10 -6 ,1 × 10 -5 ,3 × 10 -5 ,1 × 10 -4 and 3 × 10 -4 mol/L propofol,re-spectively.Propofol induced dilation of the rat mesenteric arterioles in a concentration-dependent man-ner (P < 0.01 ).After pretreatment with 18β-GA and 2-APB,1 × 10 -4 mol/L propofol induced dilation was absolutely decreased (P <0.01).Conclusion These results suggest that propofol relaxes mesenteric arterioles via gap junction.

Objective To detect the expression and explore the role of the innate immune NLRP3 inflammasome and its downstream factors interleukin-1 β (IL-1β)/ interleukin-18 (IL-18) in rat model of allergic rhinitis (AR).Methods Forty Sprague Dawley (SD) rats were randomly divided into control group (A group),AR model group 1 (B group),AR model group 2 (C group),AR model group 3 (D group).Every group contained 10 rats.After the rats in the model group were sensitized by ovalbumin (OVA) and alum,B,C and D groups were separately stimulated with 5％ OVA for 10 days,20 days and 30 days (once a day).The control group did not add OVA in the process of sensitization and excitation.All rats were executed after excitation.Eosinophil granulocyte (EOS) infiltration were observed in nasal mucosa by hematoxylin-eosin (HE) staining,the expression of NLRP3 and cysteinyl aspartate-specific protease-1 (Caspase-1) were observed in nasal mucosa by immunohistochemical staining.The concentrations of ovalbumin specific IgE (OVA-sIgE),IL-18 and IL-1 β in peripheral blood and the concentrations of IL-18 and I L-1 β in nasal fluid were tested by enzyme-linked immunosorbent assay (ELISA).The data were processed by SPSS 17.0 software.Results EOS cell counted,the behavioral score and the concentrations of OVA-sIgE in AR model group were obviously higher than those in control group (P ＜ 0.05),and the difference of which had statistical significance between the AR model groups (P ＜ 0.05).The expression of NLRP3 in AR model group (The expression of NLRP3 in group of B,C and D were 48.80 ± 10.75,71.80 ± 16.98 and 100.32 ± 13.91,respectively)were obviously higher than those in control group (17.47 ± 5.59),the difference of which had statistical significance (F =78.399,P ＜0.05).The expression of Caspase-1 in AR model group (The expression of Caspase-1 in group of B,C and D were 36.33 ± 4.71,50.87 ± 11.18 and 73.10 ± 14.77,respectively) were obviously higher than those in control group (11.48 ±2.70),the difference of which had statistical significance (F =71.727,P ＜0.05).The concentrations of IL-1β in AR model group [The concentrations of IL-1β in group of B,C and D were (56.46 ± 10.13),(82.37 ± 11.93),(112.01 ± 22.91) pg/ml,respectively] were obviously higher than those in control group [(38.26 ±4.66) pg/ml],the difference of which had statistical significance (F =51.981,P ＜0.05).The concentrations of IL-18 in AR model group [The concentrations of IL-18 in group of B,C and D were (177.92 ± 23.63),(194.33 ± 20.78),(234.06 ± 31.70) pg/ml,respectively] were obviously higher than those in control group [(89.71 ± 5.56) pg/ml],the difference of which had statistical significance (F =73.295,P ＜ 0.05).And the difference of which had statistical significance between the AR model groups (P ＜ 0.05).The expression of NLRP3 was significantly positively correlated with the behavioral score,the concentrations of OVA-sIgE and EOS cell counted in rat model of allergic rhinitis (r value were 0.833,0.873 and 0.868,respectively,all P ＜0.01).Conclusion NLRP3 inflammasome and its downstream factors IL-1β/IL-18 play a role in the pathogenesis of allergic rhinitis,which may be correlated with the degree of inflammation.

OBJECTIVETo review the development of T follicular helper (TFH) cells and their role in systemic lupus erythematosus (SLE) pathogenesis, the effect of dendritic cells (DCs) on TFH cells in SLE, as well as the potential use of TFH cells as a new therapeutic target in clinical practice.

DATA SOURCESThe data used in this review were retrieved mainly from the PubMed database (1989-2013). The terms used in the literature search were "T follicular helper cells," "systemic lupus erythematosus," and "dendritic cells."

STUDY SELECTIONRelevant publications about the TFH cells development, the interaction between the TFH cells and the DCs, and the clinical applications of TFH cells were identified, retrieved, and reviewed.

RESULTSTFH cells, a novel distinct CD4+ T cell subset, are specialized in providing help to B cells in the formation of germinal centers (GCs) and long-term protective humoral immune responses. The development of TFH cells from naïve CD4+ T cell is a multistep process. As the pivot of immunoregulation, DCs are indispensable for TFH cells generation. In addition to receptor-ligand interactions between TFH cells and DCs, the cytokines secreted by DCs are also necessary for TFH cell generation. TFH cell dysregulation has been implicated in the development of SLE. More evidence from animal models of SLE and SLE patients suggests that TFH cells are necessary for pathogenic autoantibody production. Therefore, therapeutically targeting TFH cells can be a promising approach to treat antibody-mediated autoimmune diseases including SLE.

CONCLUSIONTFH cells play a critical role in the pathogenesis of SLE, making them attractive therapeutic targets in clinical practice.

The microscopic identification technique plays an important role in quality standard of Chinese herbal medicines. It has been adopted as a routine identification method in the major pharmacopoeias due to its accurate, simple, speedy, inexpensive, feasible as well as environmentally friendly properties. In this article, the theoretical principles of microscopic identification, the stability and specificity of microscopic characters, are firstly discussed. The applications of microscopic identification in ChP, USP, Ph. Eur. and JP are listed and typically compared. A protocol for microscopic identification is thus proposed based on our previous investigations. Finally, some challenges facing modernizaiton of Chinese herbal medicines are also outlined.