Persistent pulmonary hypertension of the newborn (PPHN) is a common and critical disease in the neonatus characterized by persistent pulmonary hypertension and hypoxemia, with a high mortality.Except for intubation and ventilator support, recognized treatments often require the application of pulmonary vasodilators drugs, such as inhaled nitric oxide, Sildenafil, etc, each with its own advantages.In recent years, L-citrulline, as a potential therapeutic option, has shown huge potential in PPHN treatment.The purpose of this review is to explore the possible potential of L-citrulline in the treatment of PPHN in terms of therapeutic mechanism, pharmacokinetics, current status of research and future perspectives.

Objective: To explore the relationship between the ratio of dietary vitamin A (VitA) to body weight and hypertension among children, so as to provide a reference for blood pressure control through dietary nutritional interventions and childhood hypertension prevention. Methods: Utilizing the baseline survey and followup sample data from the Healthy Children Cohort established in urban and rural areas of Chongqing from 2014 to 2019, structured quantitative dietary questionnaire and selfdesigned questionnaire were used to investigate the information of dietary intake and socioeconomic characteristics of 15 279 children, as well as blood pressure, height, weight measurement. The ratio of dietary VitA to body weight was divided into four groups based on quartiles [≤P25(Q1), >P25~P50(Q2), >P50~P75(Q3), >P75(Q4)]. Generalized linear regression models and Logistic regression models were used to analyze the correlation between ratio of dietary VitA to body weight with blood pressure levels and prevalence of hypertension. Results: The results of the 2014 baseline survey indicated that, after adjusting for confounding factors such as demographic indicators and nutritional intake, significant differences were observed in systolic blood pressure (SBP), diastolic blood pressure (DBP), and mean arterial pressure (MAP) among different groups categorized by the ratio of dietary VitA to body weight (F=157.57, 44.71, 95.92, P<0.01). The baseline ratio of dietary VitA to body weight in children exhibited a negative correlation with DBP, SBP and MAP at baseline and in 2019[baseline: β(95%CI)=-0.65(-0.89--0.42), -0.22(-0.42--0.01), -0.36(-0.56--0.16); 2019: β(95%CI)=-0.77(-1.34--0.19), -0.62(-1.21--0.02), -0.77(-1.34--0.19), P＜0.05]. Compared to Q1 group, the risk of hypertension decreased among children in Q4 at baseline and followup in 2019 [OR(95%CI)=0.63(0.49-0.81), 0.18(0.08-0.42), P<0.01]. Conclusions The ratio of dietary VitA to body weight is significantly negatively correlated with blood pressure levels among children, and dietary VitA deficiency is an independent risk factor for hypertension among children. Measures should be taken to actively adjust childrens dietary nutrition and reduce the risk of childhood hypertension.

Objective:To investigate the influences of Neferine(Nef)on inflammatory injury in nephrotic syndrome(NS)rats by regulating the MAPK/NF-κB pathway.Methods:SD rats were separated into control check group(CK group),Model group,low-dose Nef group(Nef-L group,2.5 mg/kg),high-dose Nef group(Nef-H group,5 mg/kg),prednisone acetate group(PA group,6.3 mg/kg),Anisomycin(MAPK agonist)group(5 μmol/L),Nef-H+Anisomycin group(5 mg/kg+5 μmol/L),with 12 rats in each group.Except for the CK group,all other groups were injected with doxorubicin through the tail vein to induce the NS rat model.Rats in CK group were injected with an equal volume of normal saline through the tail vein at the same time.After successful modeling,dosing treatment was performed once a day for 4 weeks.Detected 24-hour urine protein content,serum creatinine(Scr),albumin(ALB),urea nitro-gen(BUN)levels,renal tissue pathology,and levels of TNF-α,IL-6,and IL-1β in renal tissue;TUNEL staining was performed to detect cell apoptosis in rat kidney tissue;Western blot was performed to detect the expression of p-p38,p-JNK,p-ERK1/2 and p-NF-κB p65 proteins in rat kidney tissue.Results:Compared with CK group,Model group had severe renal tissue pathological damage,the 24 h urinary protein,Scr,BUN,TNF-α,IL-6,IL-1β,apoptosis rate,p-p38,p-JNK,p-ERK1/2,p-NF-κB p65 protein expressions were increased,while ALB level was decreased(P<0.05);compared with Model group,the renal tissue pathological damage of rats in Nef-L group,Nef-H group and PA group were severe,the 24 h urinary protein,Scr,BUN,TNF-α,IL-6,IL-1β,apoptosis rate,p-p38,p-JNK,p-ERK1/2,p-NF-κB P65 protein expressions were decreased,while ALB level was increased,the renal tissue pathological damage in the Anisomycin group was aggravated,the 24 h urinary protein,Scr,BUN,TNF-α,IL-6,IL-1β,apoptosis rate,p-p38,p-JNK,p-ERK1/2,p-NF-κB p65 protein expressions were increased,while ALB level was decreased(P<0.05);Anisomycin attenu-ated the effects of high doses of Nef on NS rats.Conclusion:Nef may alleviate the inflammatory injury in NS rats by inhibiting MAPK/NF-κB signaling pathway.

Objective:To evaluate the effectiveness of oral-nasal oxygen supply mouth guard in painless gastroscopy for snoring patients.Methods:The snoring patients who underwent painless gastroscopy at two Endoscopy Centers of Shanghai East Hospital, Tongji University in July 2022 were randomly divided into the observation group (using oral-nasal oxygen supply mouth guard) and the control group (using ordinary nasal oxygen tube and mouth guard). Parameters such as the wearing time and the removal time of the mouth guard, lowest pulse oxygen saturation (SpO 2), incidence of hypoxemia, and the satisfaction of medical staff were compared between the two groups. Results:The wearing time of mouth guard was 11.63±0.84 seconds and the removal time was 5.33±0.76 seconds in the observation group ( n=40), which were lower than those in the control group ( n=47) (14.91±1.21 seconds, t=-14.463, P<0.001; 10.38±0.80 seconds, t=-30.095, P<0.001). The wearing satisfaction score was 9.80±0.61, the lowest SpO 2 was (96.70±3.42)%, the removal satisfaction score was 9.75±0.67, and the anesthesiologists' satisfaction score was 9.20±1.42 in the observation group, which were higher than those in the control group [7.70±0.93, t=12.209, P<0.001; (94.06±3.72)%, t=3.417, P=0.001; 7.96±0.98, t=9.803, P<0.001; 8.13±1.35, t=3.615, P=0.001] with significant difference. There was no significant difference in the incidence of hypoxemia [10.00% (4/40) VS 14.89% (7/47), χ2=0.130, P=0.718] and endoscopic physician satisfaction score (9.30±0.97 VS 9.02±1.31, t=1.112, P=0.269) between the two groups. Conclusion:The oral-nasal oxygen supply mouth guard is easy to wear and remove, effectively reducing SpO 2 fluctuations during painless gastroscopy for snoring patients. It can enhance medical staff satisfaction with high clinical value.

Chronic fatigue syndrome （CFS） is a heterogeneous disease with dysfunction in multiple systems and multiple organs. Its etiology and pathogenesis have not been fully clarified， and its treatment also lacks specificity. The key to studying CFS is developing animal models that reflect the underlying mechanisms and etiology of CFS. The existing CFS modeling methods are complicated and not unified. By sorting out relevant literature，the present study evaluated the modeling methods，modeling standards，mechanisms， and clinical coincidence of the immune model，the stress model， and the disease-syndrome combination model in traditional Chinese medicine （TCM）. The immune model is mainly constructed from the perspective of pathophysiology， with easy operation and wide investigation， which can simulate the pathological characteristics of CFS to ensure pathogenesis research，but the experimental repeatability is general. Stress modeling is a common method for a variety of neuropsychiatric diseases，including CFS. Many different stressors can be employed to investigate the etiology of CFS， but their effects are unpredictable. Compared with the two western medicine models mentioned above，the TCM disease-syndrome combination model integrates modern medicine with TCM theory，with high clinical coincidence and great practical value. However，the TCM disease-syndrome combination model of CFS is still in the exploratory stage with a few types of models，which needs to be further improved， aiming to establish scientific，reasonable，simple， and efficient animal models to provide support for exploring the etiology，pathogenesis， and new treatment ideas of CFS.

This article reports a case of adrenal tumor in a reproductive-aged woman with hyperandrogenism misdiagnosed as polycystic ovary syndrome. The patient presented with menstrual disorder, elevated testosterone levels, and polycystic ovaries, initially diagnosed as polycystic ovary syndrome. Menstrual regularity was achieved after intermittent use of ethinylestradiol/cyproterone acetate and progesterone. Five years later, during a physical examination, a mass was discovered in the right adrenal gland, accompanied by elevated testosterone levels, polycystic ovaries, obesity, and insulin resistance. Laparoscopic resection of the right adrenal tumor was performed, and the pathological diagnosis was adrenal cortical oncocytoma. Postoperatively, menstrual regularity was restored, and testosterone levels normalized. This case highlights the importance of considering adrenal tumors secreting androgens in patients clinically diagnosed with polycystic ovary syndrome, and emphasizes the need for regular adrenal imaging follow-up.

Objective:To compare the role and efficacy of serum Helicobacter pylori ( HP) antibody combined with pepsinogen (PG) (ABC method), serum PG combined with gastrin-17 (G-17) (new ABC method) and a new gastric cancer screening scoring system for early gastric cancer screening in healthy people. Methods:Serological examinations were performed on healthy people who underwent physical examination and gastroscopy at the Physical Examination Center of Shanghai Songjiang District Central Hospital from January 2019 to December 2021. The population were divided into low-risk population, medium-risk population and high-risk population based on the above three primary screening methods for gastric cancer. Using gastroscopy and biopsy pathology as the gold standard, the ratio of each risk stratification and the detection rate of gastric cancer of the three screening methods were calculated. Advantages and disadvantages of the three methods were evaluated.Results:A total of 3 199 people who completed physical examination and gastroscopy were included in the study. Ten cases (0.31%) of esophageal cancer were detected by endoscopy, all of whom were early esophageal cancer. Thirty-seven cases (1.16%) of gastric cancer were detected,and the detection rate of early gastric cancer was 86.49%(32/37). The three gastric cancer screening methods were used to evaluate the risk of gastric cancer. According to ABC method, there were 1 853 cases (7.92%) in the low-risk group, 1 339 cases (41.86%) in the medium-risk group, and 7 cases (0.22%) in the high-risk group. The detection rates of gastric cancer were 0.97% (18/1 853), 1.42% (19/1 339), and 0.00%, respectively. According to the new ABC method, there were 2 362 cases (73.84%) in the low-risk group, 804 cases (25.13%) in the medium-risk group, and 33 cases (1.03%) in the high-risk group. The detection rates of gastric cancer were 1.14% (27/2 362), 1.24% (10/804), and 0.00%, respectively. According to the new gastric cancer screening scoring system, there were 1 448 cases (45.26%) in the low-risk group, 1 213 cases (37.92%) in the medium-risk group and 538 cases (16.82%) in the high-risk group. The detection rates of gastric cancer were 0.28% (4/1 448), 1.32% (16/1 213) and 3.16% (17/538), respectively. The detection rate of gastric cancer in the medium- and high-risk groups in total was significantly higher than that in the low-risk group with significant difference ( χ 2=17.935, P<0.001). The ROC curve showed that the AUC of the ABC method, the new ABC method and the new gastric cancer screening scoring system were 0.546, 0.503 and 0.760, respectively. The AUC of the new gastric cancer screening scoring system was significantly higher than those of the ABC method and the new ABC method, and the differences were statistically significant ( P<0.001). Conclusion:The detection rate of gastric cancer in the medium- and high-risk groups of the new gastric cancer screening scoring system is higher than that of the low-risk group, and the missed diagnosis rate of the new gastric cancer screening scoring system is lower than those of the ABC method and the new ABC method. The screening score is of high value for early gastric cancer screening in the healthy population.

Objective: To investigate the level of mental health literacy among residents in Jiaxing City, Zhejiang Province, so as to provide insights into implementation of mental health education and improvements of the quality of mental health services. Methods: A total of 2 248 permanent residents at ages of 18 years and older were sampled using a multi-stage stratified random sampling method from 3 streets (townships) in Jiaxing City. Residents' demographics were collected using self-designed questionnaires, and the mental health literacy was investigated using the Mental Health Literacy Questionnaire. Factors affecting the achievement of the target of mental health literacy were identified among residents using a multivariable logistic regression model. Results: A total of 2 248 questionnaires were allocated and 2 172 valid questionnaires were recovered, with an effective recovery rate of 96.62%. The respondents included 1 075 men (49.49%) and 1 097 women (50.51%). There were 623 respondents that met the target of the mental health literacy (28.68%). Multivariable logistic regression analysis showed a higher possibility of achieving the target of mental health literacy levels among women than among men (OR=1.282, 95%CI: 1.047-1.570), among unmarried residents (OR=1.685, 95%CI: 1.018-2.788) than among married residents, among residents with educational levels of junior high school (OR=1.689, 95%CI: 1.168-2.441), high school/vocational high school/technical secondary school (OR=2.420, 95%CI: 1.601-3.658) and college or above (OR=3.543, 95%CI: 2.252-5.574) than among residents with an educational level of primary and below, among students (OR=2.572, 95%CI: 1.013-6.527), medical personnel (OR=3.330, 95%CI: 2.029-5.467), teachers (OR=2.909, 95%CI: 1.202-7.040), freelance/self-employed staff (OR=1.519, 95%CI: 1.100-2.098) and other professional technical personnel (OR=1.529, 95%CI: 1.012-2.310) than among workers. Conclusions The proportion of mental health literacy levels meeting the target is high among residents in Jiaxing City, and gender, educational level, occupation and marital status are factors affecting mental health literacy levels.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome. METHODS: Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband and her sister were both found to harbor compound heterozygous variants of LARP7 gene, namely c.94A>T (p.Lys32*) and c.1141A>G (p.Lys381Glu), which were inherited from their father and mother, respectively. Both variants were predicted to be pathogenic based on bioinformatic analysis. CONCLUSION The two variants of the LARP7 gene, both were unreported previously, probably underlay the Alazami syndrome in this pedigree. Above finding has expanded the mutational spectrum of the LARP7 gene.
China ; Dwarfism ; Female ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pedigree ; Ribonucleoproteins/genetics* ; Exome Sequencing

[摘 要] 目的：探讨混合谱系白血病5（MLL5）基因在小鼠结肠癌CT26细胞移植瘤生长中的作用及其分子机制。方法：利用CRISPR/Cas9技术构建MLL5基因缺失、MLL5和DDX58双基因缺失的结肠癌CT26细胞模型，用Sanger测序和WB法验证敲除效果。将基因敲除的CT26细胞接种到野生型BALB/c小鼠和免疫缺陷型NSG小鼠皮下，构建基因缺失结肠癌CT26细胞移植瘤小鼠模型，并观察移植瘤的生长及荷瘤小鼠的总生存期（OS）。结果：在野生型小鼠中，MLL5基因缺失的CT26细胞移植瘤生长速度显著性低于野生型癌细胞移植瘤，并延长荷瘤小鼠的OS（P<0.01）；在NSG小鼠中，MLL5基因缺失对CT26细胞移植瘤的生长速度以及荷瘤小鼠的OS没有明显改变。MLL5基因缺失提高了癌细胞中视黄酸诱导基因1（RIG-1）蛋白水平，DDX58基因缺失可逆转MLL5基因缺失在CT26细胞移植瘤中的作用。结论：MLL5基因缺失可提高结肠癌CT26细胞中RIG-1蛋白水平、促进肿瘤免疫，从而抑制荷瘤小鼠肿瘤生长，提示MLL5可能成为结肠癌治疗的新靶点。