OBJECTIVE: To compare clinical effect of anterior tibial plateau fracture line and anterior tibial fenestration reduction in treating anterolateral tibial plateau column fracture combined with posterior lateral column collapse. METHODS: Fifty-two patients with Schatzker typeⅡ tibial plateau anterolateral column fracture combined with posterolateral column collapse admitted from January 2016 to December 2021 were retrospectively analyzed and divided into two groups according to fracture reduction methods. There were 27 patients in fracture line group, including 19 males and 8 females, aged from 26 to 62 years old with an average of (43.2±11.4) years old;the time from injury to operation ranged from 4 to 8 days with an average of (5.8±1.5) days;treated with reduction and internal fixation via fracture line of lateral platform front. There were 25 patients in fenestrate group, including 13 males and 12 females, aged from 22 to 69 years old with an average of (40.8±11.1) years old;the time from injury to operation ranged from 4 to 8 days with an average of (6.0±1.4) days;treated with tibial fenestration reduction and internal fixation. The amount of bone graft, operation time, fracture healing time and complications were compared between two groups. Posterior slope angle (PSA) and posterior slope angle of the lateral tibial plateau was compared before surgery, 2 days and 6 months after surgery. The knee function was evaluated by Hospital for Speical Surgery (HSS) at 2 days and 6 months after surgery, respectively. Fracture reduction was evaluated by Rasmussen anatomic score of knee joint. RESULTS: Both of group were followed up from 12 to 24 months (16.0±3.4) months. No redisplacement of fracture, internal and external inversion deformity of knee joint, or instability of knee joint were found between two groups during follow-up. In fracture line group, 1 patient occurred wound fat liquefaction and 2 patients occurred lower limb intermuscular venous thrombosis occurred. In fenestration group, 1 patient occurred joint stiffness, 1 patient occurred lower limb intermuscular venous thrombosis, and 1 patient occurred superficial wound infection;there were no significant difference in complications between two groups (P>0.05). Bone graft volume, operative time and fracture healing time in fracture line group were (3.6±2.3) cm³, (123.4±18.2) min and (13.8±1.8) weeks, while in feneplast group were (4.8±1.8) cm³, (135.5±22.5) min and (15.2±2.0) weeks, respectively;the difference between two groups was statistically significant (P<0.05). The collapse depth of lateral platform articular surface at 2 days and 6 months after surgery were (0.8±0.1) and (0.9±0.1) mm in fracture line group, which were lower than those in fenestration group (0.9±0.1) and (1.1±0.1) mm, respectively (P<0.05). After 2 days and 6 months, , PSA in fracture line group were (9.4±1.5) ° and (10.1±1.9) °, respectively, which were lower than those in fenestration group (10.5±1.5) ° and (11.3±1.9) ° (P<0.05). Rasmussen anatomical scores in fracture line group at 2 days and 6 months were 16(16, 18) and 16(14, 16) points, respectively, which were better than those in fenestrated group (16, 16) and 14(14, 16) points (P< 0.05). The collapse depth, PSA and Rasmussen anatomical score between two groups were better than those before surgery (P<0.05). There was no significant difference in HSS score between two groups at 2 days after surgery (P>0.05). At six months after surgery, HSS score in fracture line group (86.7±3.6) was higher than that in fenestration group (84.1±3.91) (P<0.05). HSS score at 6 months after surgery was better than that at 2 days after surgery (P<0.05). CONCLUSION Both anterior tibial plateau fracture line and anterior tibial fenestration could be used to treat anterolateral tibial plateau column fracture with posterior lateral column collapse. Compared with fenestration group, transfracture line group had advantages of less intraoperative bone grafting, shorter operative time, shorter fracture healing time, better articular surface reduction effect and better knee functional recovery.
Humans ; Male ; Female ; Middle Aged ; Tibial Fractures/physiopathology* ; Adult ; Fracture Fixation, Internal/methods* ; Aged ; Retrospective Studies ; Tibia/injuries* ; Tibial Plateau Fractures

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

OBJECTIVES: To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. METHODS: Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). RESULTS: Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. CONCLUSIONS ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Dwarfism/genetics* ; Achondroplasia/genetics* ; Lordosis/genetics* ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Bone and Bones/abnormalities* ; Phenotype ; Limb Deformities, Congenital

The auxin/indole-3-acetic acid (Aux/IAA) gene family is an important regulator for plant growth hormone signaling, involved in plant growth, development, as well as response to environmental stresses. In the present study, we identified SmIAA7 which is potentially associated with Salvia miltiorrhiza leaf development through comparatively analyzed the transcriptome data from different pinnate leaves. SmIAA7 was successfully isolated from S. miltiorrhiza using the specific primers. Then subsequent bioinformatic analysis, prokaryotic expression and purification, subcellular localization, and induction expression analysis under auxin and abiotic stress were performed. The full-length of SmIAA7 contained an ORF of 684 bp encoding a protein of 227 amino acid with a molecular weight of 25.3 kD. Conserved domain analysis showed that SmIAA7 contains the conserved Aux_IAA domain (pfam02309). Sequence analysis and phylogenetic tree analysis results indicated SmIAA7 was phylogenetically close to IAA7 and IAA14 from other plants, suggesting SmIAA7 involved in plant growth and development as well as response to environmental stresses. The prokaryotic expression vector pET28a-SmIAA7 was constructed and SmIAA7 recombinant protein was successfully expressed in E. coli Rosetta (DE3) strain. Subcellular localization experiment demonstrated that SmIAA7 localized in the nucleus of plant cells. Real-time fluorescence quantitative PCR results showed that the expression level of SmIAA7 was upregulated in response to auxin. Drought, low temperature, and salt stress significantly increased the transcript level of SmIAA7 gene. This study lays a foundation for further elucidating the role of SmIAA7 in leaf development, signal transduction, and stress defense in S. miltiorrhiza.

Nano liquid chromatography-high resolution tandem mass spectrometry(LC-HRMS/MS)is widely used for body fluid peptidome analysis,yet the impact of replicate analyses remains overlooked.Using salivary peptidome,in this work,10 replicate analyses of the same sample were conducted.It was found that although m/z and molecular weight ranges were consistent across replicates,single runs identified only 348-576 unique peptides from 32-39 degraded proteins.Merging all replicates revealed 1237 peptides from 77 proteins,a 2.5 folds increase in peptides and 2 folds increase in proteins.Instrument stability was confirmed via intensity/retention time of 12 peptides.Merged peptides primarily derived from high-abundance proteins(e.g.,Statherin,PRP1/2).Analysis of 20 peptides showed that the some peptides were detected in single analysis but confidence varying(19%-99%),low-confidence peptides(<95%)exceeded 95%after replicate.signal intensity alone didn't determine confidence and peptides spanning the sequence region between the longest and the shortest detected fragments could be identified.The above findings suggested that single-run LC-MS peptidomics analysis carried inherent false negatives and uncertainties.However,by integrating the results of a single analysis with the mechanism of enzymatic hydrolysis for endogenous peptides,it was possible to make reasonable inferences and extrapolations regarding peptides derived from highly abundant degraded proteins.

Streptococcus equinus is a zoonotic disease that can cause illness in various animals under specific environmental condi-tions.No reports have described isolation of this bacterium from the liver in affected sheep.This study successfully isolated and identi-fied a strain of Streptococcus equinus through bacterial isolation and culture,Gram staining,drug sensitivity testing,mouse sensitivity testing,bacterial biochemical testing,and whole genome sequencing.The strain was found to have pathogenicity toward Kunming white mice,and to be sensitive to four antibiotics(penicillin,ampicillin,ceftiofur sodium,and ceftriaxone sodium)but resistant to four antibiotics(streptomycin,amoxicillin,tetracycline,and gentamicin).On the basis of drug sensitivity testing,targeted treatment of the affected sheep flock with ceftiofur sodium effectively controlled the disease within 2 days,and no new cases occurred.This study provides a reference for biological characterization of ovine Streptococcus equinus;public health;and the investigation of disease pre-vention,control,and epidemiology.

Objective:To explore the influencing factors of major adverse cardio-cerebrovascular events(MACCE)after drug-eluting stenting in patients with coronary artery disease(CAD).Methods:Retrospective study data from First Affiliated Hospital of Zhengzhou University were extracted from the Dryad database.Patients were di-vided into MACCE group(n=160)and control group(n=880)according to whether MACCE occurred during fol-low-up.Clinical data including age,gender,fibrinogen(Fg)level etc.were compared between two groups,and the variables with significant differences between two groups were substituted into Logistic regression model to screen the influencing factors of MACCE after drug eluting stenting in CAD patients.Results:Compared with pa-tients in control group,those in MACCE group had significant higher Fg level[(3.6±1.1)g/L vs.(3.4±1.0)g/L],proportions of triple-vessel coronary disease(25.6％ vs.18.3％)and right coronary artery lesion(53.1％ vs.41.7％)(P＜0.05 or＜0.01).Multivariate Logistic regression analysis indicated that Fg level(OR=1.18,95％CI 1.01～1.37,P=0.039)was the independent risk factor of MACCE after drug eluting stenting in CAD patients.The risk of MACCE after drug eluting stenting in CAD patients significantly increased when the Fg level was＞3.27 g/L.Conclusion:High Fg level is the independent risk factor of MACCE after drug eluting stenting in CAD patients.

Streptococcus equinus is a zoonotic disease that can cause illness in various animals under specific environmental condi-tions.No reports have described isolation of this bacterium from the liver in affected sheep.This study successfully isolated and identi-fied a strain of Streptococcus equinus through bacterial isolation and culture,Gram staining,drug sensitivity testing,mouse sensitivity testing,bacterial biochemical testing,and whole genome sequencing.The strain was found to have pathogenicity toward Kunming white mice,and to be sensitive to four antibiotics(penicillin,ampicillin,ceftiofur sodium,and ceftriaxone sodium)but resistant to four antibiotics(streptomycin,amoxicillin,tetracycline,and gentamicin).On the basis of drug sensitivity testing,targeted treatment of the affected sheep flock with ceftiofur sodium effectively controlled the disease within 2 days,and no new cases occurred.This study provides a reference for biological characterization of ovine Streptococcus equinus;public health;and the investigation of disease pre-vention,control,and epidemiology.

Objective:To explore the influencing factors of major adverse cardio-cerebrovascular events(MACCE)after drug-eluting stenting in patients with coronary artery disease(CAD).Methods:Retrospective study data from First Affiliated Hospital of Zhengzhou University were extracted from the Dryad database.Patients were di-vided into MACCE group(n=160)and control group(n=880)according to whether MACCE occurred during fol-low-up.Clinical data including age,gender,fibrinogen(Fg)level etc.were compared between two groups,and the variables with significant differences between two groups were substituted into Logistic regression model to screen the influencing factors of MACCE after drug eluting stenting in CAD patients.Results:Compared with pa-tients in control group,those in MACCE group had significant higher Fg level[(3.6±1.1)g/L vs.(3.4±1.0)g/L],proportions of triple-vessel coronary disease(25.6％ vs.18.3％)and right coronary artery lesion(53.1％ vs.41.7％)(P＜0.05 or＜0.01).Multivariate Logistic regression analysis indicated that Fg level(OR=1.18,95％CI 1.01～1.37,P=0.039)was the independent risk factor of MACCE after drug eluting stenting in CAD patients.The risk of MACCE after drug eluting stenting in CAD patients significantly increased when the Fg level was＞3.27 g/L.Conclusion:High Fg level is the independent risk factor of MACCE after drug eluting stenting in CAD patients.