OBJECTIVES: To improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children. METHODS: A retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treated in the Department of Pediatrics of the Second Hospital of Hebei Medical University, from January 2018 to November 2022. The clinical characteristics and genetic testing results were analyzed. RESULTS: Among these eight children, there were five boys and three girls, with an age of onset ranging from 15 months to 12 years. All 8 children exhibited different degrees of renal function abnormalities when they attended the hospital. Among the eight children, two had the initial symptom of delayed development, two had the initial symptom of anemia, and two were found to have abnormal renal function during physical examination. The extrarenal manifestations included cardiovascular abnormalities in two children, skeletal dysplasia in two children, liver dysfunction in one child, retinitis pigmentosa in one child, and visceral translocation in one child. All eight children had renal structural changes on ultrasound, and four children had mild to moderate proteinuria based on routine urine test. Of all eight children, five had NPHP1 gene mutations and one each had a gene mutation in the NPHP3, IFT140, and TTC21B genes, and four new mutation sites were discovered. CONCLUSIONS Children with NPHP and related syndromes often have the initial symptom of delayed development or anemia, and some children also have extrarenal manifestations. NPHP and related syndromes should be considered for children with unexplained renal dysfunction, and high-throughput sequencing may help to make a confirmed diagnosis.
Child ; Humans ; Retrospective Studies ; Syndrome ; Kidney Diseases, Cystic/genetics* ; Mutation ; Phenotype

Neonatal seizures are the most common clinical manifestations of critically ill neonates and often suggest serious diseases and complicated etiologies. The precise diagnosis of this disease can optimize the use of anti-seizure medication, reduce hospital costs, and improve the long-term neurodevelopmental outcomes. Currently, a few artificial intelligence-assisted diagnosis and treatment systems have been developed for neonatal seizures, but there is still a lack of high-level evidence for the diagnosis and treatment value in the real world. Based on an artificial intelligence-assisted diagnosis and treatment systems that has been developed for neonatal seizures, this study plans to recruit 370 neonates at a high risk of seizures from 6 neonatal intensive care units (NICUs) in China, in order to evaluate the effect of the system on the diagnosis, treatment, and prognosis of neonatal seizures in neonates with different gestational ages in the NICU. In this study, a diagnostic study protocol is used to evaluate the diagnostic value of the system, and a randomized parallel-controlled trial is designed to evaluate the effect of the system on the treatment and prognosis of neonates at a high risk of seizures. This multicenter prospective study will provide high-level evidence for the clinical application of artificial intelligence-assisted diagnosis and treatment systems for neonatal seizures in the real world.
Artificial Intelligence ; Electroencephalography/methods* ; Epilepsy/diagnosis* ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/diagnosis* ; Intensive Care Units, Neonatal ; Multicenter Studies as Topic ; Prospective Studies ; Randomized Controlled Trials as Topic ; Seizures/drug therapy*

Objective:To analyze the correlation between saliva glucose and blood glucose level by measuring the concentration of saliva with high-precision ion chromatograph, and further to provide the clinical data for saliva glucose as an auxiliary index of blood glucose monitoring.Methods:A total of 268 subjects with normal glucose metabolism (NGT) and diabetes mellitus (DM) were enrolled and fasting venous blood and saliva samples were collected at the same time. The levels of saliva glucose, blood glucose and glycosylated hemoglobin (HbA1c) were measured by ion chromatograph, automatic biochemical analyzer and glycosylated hemoglobin analyzer, respectively. Methods of Kruskal-Wallis H test was used for comparison between groups, and the Spearman correlation was used for correlation analysis. Results:The mean values of blood glucose, saliva glucose and HbA1c in the DM group are all higher than those in the NGT group, and the differences are all statistically significant ( P<0.05). Saliva glucose cut-off points are set at 10, 15, 20 and 25 mg/L, respectively. When the saliva glucose concentration is greater than or equal to the above cut-off points, the saliva glucose level are positively correlated with the blood glucose level ( r=0.321, 0.379, 0.509 and 0.428, respectively, P<0.05) . Conclusion:The level of saliva glucose in DM is significantly higher than that in NGT. When the concentration of saliva glucose is greater than 20 mg/ L, there is a significant positive correlation between saliva glucose and blood glucose, and the max correlation coefficient r is 0.509.

OBJECTIVE Corona-virus disease 2019 (COVID-19) is an infectious disease caused by SARS-CoV-2 virus. The variant of corona-virus first identified in India, known as Delta, has become the dominant strain in China. Unfortunately, more conta-gious and unknown variants are coming, leading to a number of close contacts under quarantine. Chinese medicine (TCM) has been recommended to prevention and treatment due to the satisfactory therapeutic effects. However, the effect of TCM to decrease positive rate in close contacts remains unknown. METHODS We conducted an retrospective cohort study in Yangzhou, China to assess the effect of Chinese medicine on decreasing positive rate in close contacts under quarantine. The primary observation outcome was positive rate of Nucleic Acid Amplification Tests (NAATs). The secondary observation outcome was a composite of viral load of positive NAATs, severity levels of confirmed cases (asymptomatic, mild, moderate, or severe), daily body temperature, and levels of close contact (primary or secondary). RESULTS A total of 1286 subjects were collected, of which 1016 (79.00％) in TCM group and 270 (21.00％) in control group with 55 participants tested positive. The incidence of the primary outcome, positive rate of NAATs was significantly lower in the Chinese medicine group than in the control group, occurring in male and age≥60 years subjects. Multi-varia-ble logistic regression (excluding NO viral load) indicated that the risk of testing positive was reduced by 0.547 times in TCM groupcompared to control group. CT value of TCM group was higher than that of control group in all subjects and female subjects, and the re-sult showed statistically significant difference. CONCLUSIONS In our study involving close contacts under quarantine, Chinese medicine resulted in lower positive rate of NAATs and viral load than control.

Dendrobium officinale Kimura et Migo (D. officinale) is a famous traditional Chinese medicine (TCM). A mixture of D. officinale and American ginseng has been shown to enhance cell-mediated immunity, humoral immunity, and monocyte/macrophage functions in mice. Here, the effects of a D. officinale and American ginseng mixture on the structure of gut microbial community in dogs were examined using high-throughput 16S rRNA gene amplicon sequencing. The data revealed that while the mixture did not change the diversity of gut microbial community significantly, differences among individuals were significantly reduced. Furthermore, the mixture-responsive operational taxonomic units (OTUs) exhibited a phase-dependent expression pattern. Fifty-five OTUs were found to exhibit a mixture-induced expression pattern, among which one third were short-chain fatty acid (SCFA)-producing genera and the others were probiotic genera included Lactobacillus spp., Sutterella, Alistipes, Anaerovorax, Bilophila, Coprococcus, Gordonibacter, Oscillibacter, among others. By contrast, 36% of the OTUs exhibiting a mixture-repressed expression pattern were disease-associated microorganisms, and six genera, namely Actinomyces, Escherichia/Shigella, Fusobacterium, Slackia, Streptococcus and Solobacterium, were associated with cancer. In addition, five genera were closely associated with diabetes, namely Collinsella, Rothia, Howardella, Slackia and Intestinibacter. Our results indicate that this D. officinale and American ginseng mixture may be used as a prebiotic agent to enhance SCFA-producing genera and prevent gut dysbiosis.

BACKGROUND: The mechanism and characteristics of early and late drug-eluting stent in-stent restenosis (DES-ISR) have not been fully clarified. Whether there are different outcomes among those patients being irrespective of their repeated treatments remain a knowledge gap. METHODS: A total of 250 patients who underwent initial stent implantation in our hospital, and then were readmitted to receive treatment for the reason of recurrent significant DES-ISR in 2016 were involved. The patients were categorized as early ISR (<12 months; E-ISR; n = 32) and late ISR (≥12 months; L-ISR; n = 218). Associations between patient characteristics and clinical performance, as well as clinical outcomes after a repeated percutaneous coronary intervention (PCI) were evaluated. Primary composite endpoint of major adverse cardiac events (MACEs) included cardiac death, non-fatal myocardial infarction (MI), or target lesion revascularization (TLR). RESULTS: Most baseline characteristics are similar in both groups, except for the period of ISR, initial pre-procedure thrombolysis in myocardial infarction, and some serum biochemical indicators. The incidence of MACE (37.5% vs. 5.5%; P < 0.001) and TLR (37.5% vs. 5.0%; P < 0.001) is higher in the E-ISR group. After multivariate analysis, E-ISR (odds ratio [OR], 13.267; [95% CI 4.984-35.311]; P < 0.001) and left ventricular systolic dysfunction (odds ratio [OR], 6.317; [95% CI 1.145-34.843]; P = 0.034) are the independent predictors for MACE among DES-ISR patients in the mid-term follow-up of 12 months. CONCLUSIONS Early ISR and left ventricular systolic dysfunction are associated with MACE during the mid-term follow-up period for DES-ISR patients. The results may benefit the risk stratification and secondary prevention for DES-ISR patients in clinical practice.
Coronary Angiography ; Coronary Restenosis ; Drug-Eluting Stents/adverse effects* ; Humans ; Percutaneous Coronary Intervention/adverse effects* ; Prognosis ; Treatment Outcome

Tanshinone Ⅱ_A( Tan Ⅱ_A),the liposoluble constituents of Salvia miltiorrhiza,can not only ameliorate the lipidic metabolism and decrease the concentration of lipid peroxidation,but also resist oxidation damage,scavenge free radicals and control inflammation,with a protective effect on prognosis after liver function impairment. Therefore,the studies on the exact mechanism of Tan Ⅱ_A in protecting the liver can provide important theoretical and experimental basis for the prevention and treatment effect of Tan Ⅱ_A for liver injury. In the present study,the protective effects and mechanism of Tan Ⅱ_A on 4-hydroxynonenal( 4-HNE)-induced liver injury were investigated in vitro. Normal liver tissues NCTC 1469 cells were used to induce hepatocytes oxidative damages by 4-HNE treatment. The protective effect of Tan Ⅱ_A on hepatocytes oxidative damages was detected by release amount of lactate dehydrogenase( LDH) analysis and hoechst staining. The protein expression changes of peroxisome proliferator-activated receptor α( PPARα) and peroxisome proliferator response element( PPRE) were analyzed by Western blot analysis in NCTC 1469 cells before and after Tan Ⅱ_A treatment. The gene expression changes of fatty aldehyde dehydrogenase( FALDH) were analyzed by Real-time polymerase chain reaction( PCR) analysis. The results showed that 4-HNE increased the release amount of LDH,lowered the cell viability of NCTC 1469 cells,and Tan Ⅱ_A reversed 4-HNE-induced hepatocyte damage. Western blot analysis and RT-PCR analysis results showed that 4-HNE decreased the expression of PPARα and FALDH and increased the expression of 4-HNE. However,the expression of PPARα and FALDH were increased significantly and the expression of 4-HNE was decreased obviously after Tan Ⅱ_A treatment. This study confirmed that the curative effect of Tan Ⅱ_A was obvious on hepatocytes damage,and the mechanism may be associated with activating PPARα and FALDH expression as well as scavenging 4-HNE.
Aldehyde Oxidoreductases ; metabolism ; Aldehydes ; Animals ; Cell Line ; Diterpenes, Abietane ; pharmacology ; Hepatocytes ; drug effects ; Lipid Peroxidation ; Mice ; Oxidative Stress ; PPAR alpha ; metabolism

Objective:To study the levels of Th1 and Th2 in spleen lymphocyte of TNBS and OXZ colitis without or with Trichinella spiralis(T.spiralis)infection.Methods:Female BALB/c mice were randomly divided into 3 groups:50％ Ethanol,TNBS or OXZ,T.spiralis+TNBS or OXZ(at least 6 in each group when mice were killed).The ratio of Th1/Th2 lymphocyte in spleen was detected by FCM with three color intracellular cytokine staining.Results:In spleen lymphocyte of TNBS colitic mice with prior nematode infection,the ratio of Th1/Th2 were not significantly different compared with that seen in colitic mice without prior nematode infection on day 3 post-induction of colitis(P＞0.05),the ratio of Th1/Th2 was significantly lower than which on day 7 post-induction of colitis (P＜0.05).In spleen lymphocyte of OXZ colitic mice with prior nematode infection on days 3 and 7 post-induction of colitis,the ratio of Th1/Th2 was significantly higher than that seen in colitic mice without prior nematode infection(P＜0.05).Conclusion:Infection of mice with T.spiralis distracts the mucosal immune system response from a Th1 response toward a protective Th2 response and up-regulate Tr1-cytokines with an attendant reduction in the severity of colonic damage and balance of Th1/Th2.Prior T.spiralis infection doesn't reduce the severity of OXZ-induced colitis,but without aggravating colitis.

Objective: To evaluate the predictive value of PARIS bleeding score on in-hospital bleeding of acute myocardial infarction (AMI) patients after drug-eluting stent (DES) implantation with dual-antiplatelet therapy (DAPT). Methods: There were 27 594 AMI patients enrolled in China acute myocardial infarction (CAMI) registry between 2013-01-01 to 2014-09-30 from 107 hospitals, and 14 625 of them had successful in-hospital DES implantation with DAPT were studied. Based on BARC (bleeding academic research consortium definition) criteria, the end point major bleeding (MB) events were defined by both BARC type 3, 5 and BARC type 2, 3, 5; the incidence of in-hospital bleeding, clinical features and predictive value of PARIS bleeding score according to different BARC type were evaluated. Results: Compared with non-MB patients, MB patients had the higher PARIS bleeding score, P<0.001. Based on PARIS score risk stratification, taking BARC type 3, 5 as endpoint, 77/14 625 (0.53%) patients had bleeding events, PARIS scores were different among high risk, mid risk and low risk patients, P<0.001; bleeding risk in mid risk patients was 2.38 times higher than low risk patients, P=0.006 and bleeding risk in high risk patients was 4.78 times higher than low risk patients, P<0.001.Taking BARC type 2,3,5 as endpoint,223(1.52%)patients had bleeding events,bleeding risk in mid risk patients was 1.64 times higher than low risk patients, P=0.002 and bleeding risk in high risk patients was 2.23 times higher than low risk patients, P=0.001. ROC analysis showed that PARIS score had predictive value on both BARC type 3, 5 and BARC type 2, 3, 5 bleeding, area under curve (AUC) of BARC type 3, 5 (AUC: 0.672) was higher than AUC of BARC type 2, 3, 5 (AUC:0.596) (z=2.079, P=0.038), which implied that PARIS score had better predictive value in severe bleeding events. Conclusion: PARIS bleeding score had predictive value on in-hospital bleeding in AMI patients after DES implantation with DAPT, it can also be used in bleeding risk stratification. PARIS bleeding score had better predictive value on severe bleeding.

OBJECTIVETo summarize the clinical characteristics of peripheral blood, immune phenotypes, fusion genes and cytogenetics of patients with t(8;21) acute myeloid leukemia(AML) through the retrospective analysis of 586 patients with t(8;21) AML from 15 blood disease research centers in Northern area of China.

METHODSThe factors affecting prognosis of patients with t(8;21) AML were investigated by using univariate and multivariate COX regression.

RESULTSThe immune type of t(8;21) AML patients was mainly with HLA-DR, CD117, CD34, MPO, CD38, CD13and CD33(>95%), part of them with CD19and CD56; the most common accompanied mutation of t(8;21) AML patients was C-KIT mutation (37.8%); in addition to t(8;21) ectopic, the most common chromosomal abnormality was sex chromosome deletions (38.9%). The univariate analysis revealed a significant survival superiority of OS and PFS in t(8;21) AML patients of WBC≤3.5×10/L without C-KIT mutation, the newly diagnosed ones achieved HSCT(P<0.05), only survival superiority on OS in t(8;21) AML patients with extramedullary infiltration and CD19 positive; the results of multivariate analysis showed a significant survival superiority on OS and PFS in t(8;21) AML patients with WBC≤3.5×10/L(P<0.05).

CONCLUSIONThe clinical features of t(8;21) AML patients in China are similar to those in other countries, WBC≤3.5×10/L is a good prognostic factor while the C-KIT mutation is a poor one in t(8;21) AML patients.