OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene. RESULTS: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295). CONCLUSIONS Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans ; Phenylketonurias/epidemiology* ; Female ; Male ; Retrospective Studies ; Phenylalanine Hydroxylase/genetics* ; Mutation ; Child, Preschool ; China/epidemiology* ; Child ; Infant

OBJECTIVE: To investigate the protective effects of stir-fried Semen Armeniacae Amarum (SAA) against aristolochic acid I (AAI)-induced nephrotoxicity and DNA adducts and elucidate the underlying mechanism involved for ensuring the safe use of Asari Radix et Rhizoma. METHODS: In vitro, HEK293T cells overexpressing Flag-tagged multidrug resistance-associated protein 3 (MRP3) were constructed by Lentiviral transduction, and inhibitory effect of top 10 common pairs of medicinal herbs with Asari Radix et Rhizoma in clinic on MRP3 activity was verified using a self-constructed fluorescence screening system. The mRNA, protein expressions, and enzyme activity levels of NAD(P)H quinone dehydrogenase 1 (NQO1) and cytochrome P450 1A2 (CYP1A2) were measured in differentiated HepaRG cells. Hepatocyte toxicity after inhibition of AAI metabolite transport was detected using cell counting kit-8 assay. In vivo, C57BL/6 mice were randomly divided into 5 groups according to a random number table, including: control (1% sodium bicarbonate), AAI (10 mg/kg), stir-fried SAA (1.75 g/kg) and AAI + stir-fried SAA (1.75 and 8.75 g/kg) groups, 6 mice in each group. After 7 days of continuous gavage administration, liver and kidney damages were assessed, and the protein expressions and enzyme activity of liver metabolic enzymes NQO1 and CYP1A2 were determined simultaneously. RESULTS: In vivo, combination of 1.75 g/kg SAA and 10 mg/kg AAI suppressed AAI-induced nephrotoxicity and reduced dA-ALI formation by 26.7%, and these detoxification effects in a dose-dependent manner (P<0.01). Mechanistically, SAA inhibited MRP3 transport in vitro, downregulated NQO1 expression in vivo, increased CYP1A2 expression and enzymatic activity in vitro and in vivo, respectively (P<0.05 or P<0.01). Notably, SAA also reduced AAI-induced hepatotoxicity throughout the detoxification process, as indicated by a 41.3% reduction in the number of liver adducts (P<0.01). CONCLUSIONS Stir-fried SAA is a novel drug candidate for the suppression of AAI-induced liver and kidney damages. The protective mechanism may be closely related to the regulation of transporters and metabolic enzymes.
Aristolochic Acids/toxicity* ; Animals ; Humans ; NAD(P)H Dehydrogenase (Quinone)/genetics* ; HEK293 Cells ; Kidney/pathology* ; Cytochrome P-450 CYP1A2/genetics* ; Mice, Inbred C57BL ; DNA Adducts/drug effects* ; Male ; Kidney Diseases/drug therapy* ; Drugs, Chinese Herbal/therapeutic use* ; Mice ; Prunus armeniaca ; Plant Extracts

OBJECTIVE: To examine the effectiveness of Chinese medicine (CM) Lianhua Qingwen Granule (LHQW) and Jingyin Gubiao Prescription (JYGB) in asymptomatic or mild patients with Omicron infection in the shelter hospital. METHODS: This single-center retrospective cohort study was conducted in the largest shelter hospital in Shanghai, China, from April 10, 2022 to May 30, 2022. A total of 56,244 asymptomatic and mild Omicron cases were included and divided into 4 groups, i.e., non-administration group (23,702 cases), LHQW group (11,576 cases), JYGB group (12,112 cases), and dual combination of LHQW and JYGB group (8,854 cases). The length of stay (LOS) in the hospital was used to assess the effectiveness of LHQW and JYGB treatment on Omicron infection. RESULTS: Patients aged 41-60 years, with nadir threshold cycle (C_T) value of N gene <25, or those fully vaccinated preferred to receive CM therapy. Before or after propensity score matching (PSM), the multiple linear regression showed that LHQW and JYGB treatment were independent influence factors of LOS (both P<0.001). After PSM, there were significant differences in LOS between the LHQW/JYGB combination and the other groups (P<0.01). The results of factorial design ANOVA proved that the LHQW/JYGB combination therapy synergistically shortened LOS (P=0.032). CONCLUSIONS Patients with a nadir C_T value <25 were more likely to accept CM. The LHQW/JYGB combination therapy could shorten the LOS of Omicron-infected individuals in an isolated environment.
Humans ; Drugs, Chinese Herbal/therapeutic use* ; Male ; Female ; Middle Aged ; Adult ; China/epidemiology* ; Hospitalization ; COVID-19 Drug Treatment ; COVID-19/epidemiology* ; SARS-CoV-2 ; Retrospective Studies ; Treatment Outcome ; Length of Stay ; Young Adult ; Aged

Medical engineering in TCM medical institutions in Guizhou Province was described in terms of its development status and problems in functional positioning,professional title appraisal,unbalanced staff composition and discipline foun-dation.Some suggestions were put forward including determining the functional positioning and management mode of medical engineering institutions,promoting the professional title system for medical engineering staffs,strengthening medical engineering team and enhancing medical engineering discipline.References were provided for the development of medical engineering in TCM medical institutions in Guizhou Province.[Chinese Medical Equipment Journal,2025,46(5):84-90]

Medical engineering in TCM medical institutions in Guizhou Province was described in terms of its development status and problems in functional positioning,professional title appraisal,unbalanced staff composition and discipline foun-dation.Some suggestions were put forward including determining the functional positioning and management mode of medical engineering institutions,promoting the professional title system for medical engineering staffs,strengthening medical engineering team and enhancing medical engineering discipline.References were provided for the development of medical engineering in TCM medical institutions in Guizhou Province.[Chinese Medical Equipment Journal,2025,46(5):84-90]

Objective To explore the current status of H.pylori infection in the natural population of Sanya City,analyze its influencing factors,and provide a reference basis for the prevention and control of H.pylori infection.Methods A total of 677 residents from four districts of Sanya City were selected by overall stratified random sampling method,and were subjected to urea 14C breath test and questionnaire survey to calculate the positive rate of H.pylori in the natural population and analyze the influencing factors of H.pylori infection.Results A total of 606 residents were included,and the number of H.pylori positive detections was 261,with a positive detection rate of 38.5％.Among them,different ethnicity,marital status,smoking,eating vegetables and fruits,and literacy level were associated with H.pylori infection(P＜0.05);gender,age,BMI,alcohol consumption,drinking water source,betel quid chewing,and the number of cohabitants were not significantly associated with H.pylori infection(P＞0.05).Family infection was an independent risk factor for H.pylori infection in the natural population of Sanya City,and Li ethnicity,frequent consumption of fruits and vegetables,and college and higher education level were independent protective factors for H.pylori infection in the natural population of Sanya City.Conclusion The rate of H.pylori infection in the natural population of Sanya City is lower than the national average.Consuming more fruits and vegetables and improving the awareness of hygiene protection are conducive to the prevention of H.pylori infection;and the promotion of the family and related members with the same examination and treatment is important to avoid aggregation of infection within the family.

Objective To explore clinical efficacy of osteoplasty combined with percutaneous vertebroplasty(PVP)and percutaneous kyphoplasty(PKP)alone in treating osteoporosis vertebral compression fractures(OVCFs).Methods The clini-cal data of 80 patients with single-level OVCFs treated from January 2021 to June 2022 were retrospectively analyzed,and were divided into treatment group and control group according to different surgical methods,40 patients in each group.In treatment group,there were 24 males and 16 females,aged from 60 to 83 years old with an average of(70.43±7.31)years old;bone min-eral density ranged from-3.30 to-2.50 SD with an average of(-2.84±0.24)SD;1 patient with T10,4 patients with T11,11 pa-tients with T12,7 patients with L1,7 patients with L2,5 patients with L3,3 patients with L4,2 patients with L5;bone setting tech-nique combined with PVP were performed.In control group,there were 27 males and 13 females,aged from 60 to 82 years old with an average of(68.98±6.94)years old;bone mineral density ranged from-3.40 to-2.50 SD with an average of(-2.76±0.23)SD;2 patients with T10,3 patients with T11,13 patients with T12,11 patients with L1,5 patients with L2,3 patients with L3,2 patients with L4,1 patient with L5;simple PKP were peformed.Visual analogue scale(VAS)and lumbar Oswestry disability in-dex(ODI)were compared between two groups before operation,3 days,3 and 12 months after operation.The changes of local kyphotic angle,vertebral wedge angle and vertebral anterior margin height ratio were compared between two groups before op-eration,3 days and 12 months after operation.Results All patients were successfully completed operation.Treatment group were followed up from 13 to 22 months with an average of(16.82±2.14)months,and control group were followed up from 13 to 23 months with an average of(16.45±2.56)months.Three patients were occurred bone cement leakage in treatment group,while 1 patient were occurred bone cement leakage and 1 patient occurred sensory disturbance of lower limb skin in control group;there were no significant difference in complications between two groups(P＞0.05).There were no significant difference in preoperative VAS and ODI between two groups(P＞0.05).At 3 days after operation,VAS of treatment group 3.68±0.62 was significantly higher than that of control group 4.00±0.72(P＜0.05).There were no significant difference in VAS and ODI be-tween two groups at 3 and 12 months after operation(P＞0.05).There were no significant difference in local kyphotic angle,vertebral wedge angle and vertebral anterior margin height between two groups at 3 days and 12 months after operation(P＞0.05).Conclusion Compared with PKP,bone setting manipulation combined with PVP for the treatment of OVCFs has advan-tages in early postoperative pain relief.In terms of vertebral height recovery,bone setting manipulation combined with PVP and PKP alone have similar clinical effects.

Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Objective lo investigate the protective effect of dihydromyricetin(DHM)against exercise-induced muscle damage(EIMD)in mice and its potential mechanism. Methods Adult male C57BL/6J mice were randomly divided into control group(CG),exercise group(EG),and exercise+100 mg/kg weightd DHM(DHM)group.The intervention lasted for four weeks,during which the animals in the EG and DHM groups were subjected to exercise training for 1 h per day.The day after the training,a 90-min treadmill exercise(slope:0 and speed:18 m/min)was conducted in both EG and DHM groups.Samples of blood and gastrocnemius muscles were harvested from the three groups 24 h after the exercise,followed by the measurement of serum creatine kinase(CK)and lactate dehydrogenase(LDH)activities,total superoxide dismutase(T-SOD)activity,malondialdehyde(MDA),and skeletal muscle mitochondrial enzyme complex Ⅰ and Ⅱ activities.Histological changes in the skeletal muscle were observed by transmission electron microscopy,and the protein expressions of mitochondrial function-related pathways were detected by Western blotting. Results Skeletal muscle morphological changes and mitochondrial damage were alleviated in the DHM group compared to those in the EG.The activities of EIMD markers CK and LDH and the level of lipid peroxidation were notably repressed and the serum T-SOD activity was enhanced after DHM intervention.Western blotting demonstrated that the expressions of sirtuin type 3(SIRT3),estrogen-related receptor alpha,and peroxisome proliferator-activated receptor-gamma coactivator-1 alpha in the skeletal muscle of mice increased after the DHM intervention. Conclusion DHM can relieve EIMD in mice,possibly by promoting the recovery of the mitochondrial structure and function in the skeletal muscle of mice after high-intensity exercise via the activation of the SIRT3 signaling pathway.

Objective To explore the clinical value of second polar body (Pb2) exclusion monitoring by timelapse in predicting the fertilization and embryo development efficiency for intracytoplasmic sperm injection ( ICSI). Methods A retrospective research was performed on 278 patients treated with ICSI, the clinical data and Time-lapse monitoring embryo culture data were collected and analyzed, to explore the exclusion of Pb2 after ICSI and the relationship between the specific exclusion time and the outcome of fertilization and embryo development. Results The average time of Pb2 exclusion after ICSI was ( 3. 03 ± 1. 21) hours; The fertilization rate, 2 pronucleus(PN) fertilization rate and 5 days ( D5) blastocyst formation rate in the Pb2 exclusion group were significantly higher than those in the without Pb2 exclusion group (99.95% vs f. 75%, P < 0 . 001; 97.18% vs 0.66%, P< 0.001; 60.50% vs 16.67%, P < 0 . 0 5 ) ; The 2PN fertilization rate in Pb2 exclusion time >3-4 hours group was significantly higher than that in 0-2 hours group and >5 hours group (98.80% vs 9 3 . 8 1 % , P<0. 05; 98.80% vs 95.40%, P<0. 0 5 ) ; The exclusion time of Pb2 was significantly correlated with the average number of blastomeres in D3 embryos (P<0. OOf). The D5 blastocyst formation rate of 3-4 hours group was significantly lower than that of > 2-3 hours group ( 56. 23% vs 67. 23%, P < 0. 05 ) , > 4-5 hours group was significantly lower than 0-2 hours group and >2-3 hours group ( 46. 6f % vs 62. 30% , P<0. 05; 46. 6f % vs 67. 23% , P< 0. 05) , and D5 blastocyst formation rate of >5 hours group was 7. f 4 % , which were significantly lower than that of the other four groups (P<0. 05). The fonnation rate of D5 high-quality blastocysts in 3-4 hours group was significantly lower than 0-2 hours group and > 2-3 hours group ( 9. 92% vs 16. 39% , P<0. 05; 9. 92% vs 20. 72% , P<0. 05) , and D5 highquality blastocysts formation rate in > 4-5 hours group was significantly lower than that in > 2-3 hours group (11. 02% vs 20.72%, P<0. 05). Conclusion Monitoring Pb2 exclusion by Time-lapse can accurately predict fertilization outcome. The time of Pb2 exclusion is significantly correlated with embiyo development potential. It is a valuable morphological index to predict fertilization and embiyo development outcome in ICSI.