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 We aimed to compare the efficacy and prognosis of percutaneous coronary intervention(PCI)in complex and high-risk patients with coronary heart disease(CHD)treated with extracorporeal membrane oxygenation(ECMO)combined with intra-aortic balloon pump(IABP)assistance,and explore the application value of combined use of mechanical circulatory support(MCS)devices in complex PCI.Methods A total of patients who met the inclusion criteria and underwent selective PCI supported by MCS at the Department of Cardiology,the First Affiliated Hospital of the Air Force Medical University from January 2018 to December 2022 were continuously enrolled.According to the mechanical circulatory support method,the patients were divided into ECMO+IABP group and IABP group.Clinical characteristics,angiographic features,in-hospital outcomes,and complications were collected.The intra-hospital outcomes and major adverse cardiovascular events(MACE)at one month and one year after the procedure were observed.The differences and independent risk factors between the two groups in the above indicators were analyzed.Results A total of 218 patients undergoing elective PCI were included,of which 66 patients were in the ECMO+IABP group and 152 patients were in the IABP group.The baseline characteristics of the two groups of patients were generally comparable,but the ECMO+IABP group had more complex lesion characteristics.The proportion of patients with atrial fibrillation(6.1％vs.0.7％,P=0.030),left main disease(43.9％vs.27.0％,P=0.018),triple vessel disease(90.9％vs.75.5％,P=0.009),and RCA chronic total occlusion disease(60.6％vs.35.5％,P＜0.001)was higher in the ECMO+IABP group compared to the IABP group.The proportion of patients with previous PCI history was higher in the IABP group(32.9％vs.16.7％,P=0.014).There was no statistically significant difference in the incidence of in-hospital complications between the two groups(P=0.176),but the incidence of hypotension after PCI was higher in the ECMO+IABP group(19.7％vs.9.2％,P=0.031).The rates of 1-month MACE(4.5％vs.2.6％,P=0.435)and 1-year MACE(7.6％vs.7.9％,P=0.936)were comparable between the two groups.Multivariate analysis showed that in-hospital cardiac arrest(OR 7.17,95％CI 1.27-40.38,P=0.025)and after procedure hypotension(OR 3.60,95％CI 1.10-11.83,P=0.035)were independent risk factors for the occurrence of 1-year MACE.Conclusions Combination use of ECMO+IABP support can provide complex and high-risk coronary heart disease patients with an opportunity to achieve coronary artery revascularization through PCI,and achieve satisfactory long-term prognosis.

This study was aimed at establishing a nucleic acid detection method for human parainfluenza viruses(HPIV)based on reverse transcription recombinase-aided amplification(RT-RAA)combined with a CRISPR system.Type-specific primer pairs for RT-RAA and CRISPR RNA(crRNA)targeting conserved sequences of the nucleocapsid(N)gene of HPIV-1 were designed.Fluorescence intensities from the cleavage of fluorophore labeled probes mediated by Cas13a were measured to optimize the crRNA and Cas13a concentrations.We evaluated the lower limit of detection,sensitivity,and specificity of RT-RAA combined with CRISPR/Cas13a detection in both in vitro transcribed RNAs and clinical specimens.The limit of detection of RT-RAA combined with CRISPR/Cas13a for HPIV-1 reached 1 copy/reaction.The method was subsequently used to detect clinical samples containing HPIV-2～4 and eight other respiratory viruses,and no cross-reaction was observed.This method had high sensitivity(100％)and specificity(97.8％),and high detection consistency with commercial kits(Kappa=0.88).Thus,our HPIV-1 nucleic acid detection method based on RT-RAA combined with the CRISPR/Cas13a system was success-fully established.This method is rapid,sensitive,and specific,and does not require specialized nucleic acid detection equip-ment.

This study was aimed at establishing a nucleic acid detection method for human parainfluenza viruses(HPIV)based on reverse transcription recombinase-aided amplification(RT-RAA)combined with a CRISPR system.Type-specific primer pairs for RT-RAA and CRISPR RNA(crRNA)targeting conserved sequences of the nucleocapsid(N)gene of HPIV-1 were designed.Fluorescence intensities from the cleavage of fluorophore labeled probes mediated by Cas13a were measured to optimize the crRNA and Cas13a concentrations.We evaluated the lower limit of detection,sensitivity,and specificity of RT-RAA combined with CRISPR/Cas13a detection in both in vitro transcribed RNAs and clinical specimens.The limit of detection of RT-RAA combined with CRISPR/Cas13a for HPIV-1 reached 1 copy/reaction.The method was subsequently used to detect clinical samples containing HPIV-2～4 and eight other respiratory viruses,and no cross-reaction was observed.This method had high sensitivity(100％)and specificity(97.8％),and high detection consistency with commercial kits(Kappa=0.88).Thus,our HPIV-1 nucleic acid detection method based on RT-RAA combined with the CRISPR/Cas13a system was success-fully established.This method is rapid,sensitive,and specific,and does not require specialized nucleic acid detection equip-ment.

To discuss the effect of varicella vaccination on the clinical characteristics of herpes zoster (shingles) cases aged 20 years and under, and analyze its clinical features. Based on the Yichang Health Big Data Platform, a descriptive study was conducted to collect the information of cases aged 20 years and under in three medical institutions of Yichang Central People's Hospital, Yichang First People's Hospital and Yichang Second People's Hospital from March 2019 to September 2020. According to the history of varicella vaccine, cases were divided into vaccination group and non-vaccination group, and their clinical features and outcomes were compared. The results showed that 46 shingles cases, aged from 7 to 20 years old, were included in this study. 26 males (56.5%), 20 females (43.5%), 15 cases in vaccination group (32.6%) and 31 cases in non-vaccination group (67.4%). 28 cases had thoracic involvement, followed by lumbar (n=8), cranial (n=7) involvements and extremities (n=7). The spread of herpes skin area: 2 cases involved too large area, 21 cases of 10 cm×10 cm, 14 cases of 5 cm×5 cm, 9 cases of 1 cm×1 cm. Herpes number: 26 cases had 10-49 herpes, followed by <10 herpes (n=9), uncountable herpes (n=7) and 50-99 herpes (n=4). The clinical course[M(Q₁,Q₃)] lasted 20.5 (13.5,24.8) d averagely, 5 cases had postherpetic neuralgia (PHN) and 1 case had respiratory complications. Shingles decrustation time was significantly shorter in vaccination group (Z=-2.01, P<0.05), and there was no significant difference in other characteristics by vaccination. In conclusion, the number and spread of shingles in most children and adolescents are less, and the complications such as PHN are less. Varicella vaccination can reduce the decrustation time and relieve shingles cases with some clinical symptoms.
Adolescent ; Child ; Female ; Humans ; Male ; Young Adult ; Chickenpox/prevention & control* ; Herpes Zoster/prevention & control* ; Herpes Zoster Vaccine/therapeutic use* ; Herpesvirus 3, Human ; Neuralgia, Postherpetic/prevention & control*

Objective: To analyze the genetic characteristics of varicella-zoster virus (VZV) in people aged 20 years and under in Yichang City of Hubei Province from 2019 to 2020. Methods: Based on the Yichang Health Big Data Platform, we investigated cases 20 and under clinically diagnosed as herpes zoster in three hospitals from March 2019 to September 2020. Collecting vesicle fluid and throat swab samples of the cases and completing questionnaires to obtain basic information. Real-time fluorescent quantitative PCR was used for positive identification of the virus. PCR amplification of VZV's open reading frame (ORF) and sequencing of the products to determine the VZV genotype. Analyze mutations at some specific single nucleotide polymorphism (SNP) sites. Results: Among 46 cases of herpes zoster, the male to female ratio was 1.3∶1 (26∶20) and the age ranged from 7 to 20 years old. Fifteen cases had been vaccinated against varicella, including 13 and 2 cases of 1 and 2 doses, respectively. VZV strains were detected in 34 samples (73.91%), all belonging to Clade 2. Phylogenetic tree analysis of the nucleotide of ORF22 showed, compared with Clade 2 referenced strains, the sequence matching degree of nucleotide for all 34 samples was 99.0% to 100.0%. Conclusion: The main VZV strain causing herpes zoster in people aged 20 years and under in Yichang from 2019 to 2020 was Clade 2.
Humans ; Child ; Adolescent ; Young Adult ; Adult ; Herpesvirus 3, Human/genetics* ; Phylogeny ; Herpes Zoster/epidemiology* ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Nucleotides

To explore the characteristics of big data of patients with allergic rhinitis, including the time, population and spatial distribution of allergic rhinitis in Beijing from 2016 to 2021, so as to provide reference for the prevention and treatment of this disease. Descriptive epidemiological methods were used to analyze the distribution (including gender, age and location)and trend of allergic rhinitis patients in 30 pilot hospitals from January 2016 to December 2021, T test and Kruskal-Wallis rank sum test were used to test the statistical differences. The results showed that the number of patients with allergic rhinitis in 30 hospitals increased year by year from 2016 to 2019, with an increase of 97.9%. In 2020, the number of patients decreased. In 2021, the number of visits returned to the pre-epidemic level (461 332); The number of patients with allergic rhinitis was the highest in September, with a seasonal index of 177.6%, while the lowest number was in February, accounting for only 47.2%; a significant difference was observed in the number of patients in different age groups(H=45 319.48, P<0.05), and patients under 15 years old accounted for the highest proportion(819 284 visits); There were significant differences between patients of different genders in the 45-59 year old group (t=-4.26, P<0.05).There were relatively more patients with allergic rhinitis in Dongcheng District(31.1%) than in Huairou District and Miyun District (0.4%). In conclusion, since 2016, the number of patients increased significantly, with a varied trend in different seasons. Most patients were children. There were more patients in the central urban area than in the outer suburbs.
Child ; Humans ; Female ; Male ; Adolescent ; Middle Aged ; Beijing/epidemiology* ; Big Data ; Epidemics ; Hospitals ; Rhinitis, Allergic/epidemiology*

OBJECTIVES: To investigate the technical performance of IDentifier DNA typing kit (YanHuang34) and evaluate its forensic application value. METHODS: Following the Criterion of Forensic Science Human Fluorescence STR Multiplex Amplification Reagent (GB/T 37226-2018), IDentifier DNA typing kit (YanHuang34) was verified in 11 aspects of species specificity, veracity, sensibility, adaptability, inhibitor tolerance, consistency, balance, reaction condition verification, mixed samples, stability and inter batch consistency. The system efficiency of IDentifier DNA typing kit (YanHuang34) was compared with the PowerPlex^® Fusion 6C System, VersaPlex^® 27PY System and VeriFiler^TM Plus PCR Amplification Kit. The IDentifier DNA typing kit (YanHuang34) was used to detect the swabs of biological samples in daily cases and the STR performances were observed. RESULTS: IDentifier DNA typing kit (YanHuang34) had good species specificity, veracity, adaptability, inhibitor tolerance and balance. The sensibility was up to 0.062 5 ng. It was able to detect different types of samples, degraded samples and inhibitor mixed samples. Complete DNA typing could be obtained for samples with the mixture ratio less than 4∶1. The system efficiency of IDentifier DNA typing kit (YanHuang34) was very high, with TDP up to 1-1.08×10^-37, CPE_trio and CPE_duo up to 1-5.47×10^-14 and 1-6.43×10^-9, respectively. For the touched biological samples in actual cases, the effective detection rate was 21.05%. The system efficiency of kinship, single parent and full sibling identifications was effectively improved. CONCLUSIONS The IDentifier DNA typing kit (YanHuang34) is adaptive to the GB/T 37226-2018 requirements. It can be used for individual identification and paternity identification, and is suitable for application in the field of forensic science.
Humans ; DNA Fingerprinting ; Polymerase Chain Reaction ; Microsatellite Repeats ; Paternity ; Species Specificity

To explore the characteristics of big data of patients with allergic rhinitis, including the time, population and spatial distribution of allergic rhinitis in Beijing from 2016 to 2021, so as to provide reference for the prevention and treatment of this disease. Descriptive epidemiological methods were used to analyze the distribution (including gender, age and location)and trend of allergic rhinitis patients in 30 pilot hospitals from January 2016 to December 2021, T test and Kruskal-Wallis rank sum test were used to test the statistical differences. The results showed that the number of patients with allergic rhinitis in 30 hospitals increased year by year from 2016 to 2019, with an increase of 97.9%. In 2020, the number of patients decreased. In 2021, the number of visits returned to the pre-epidemic level (461 332); The number of patients with allergic rhinitis was the highest in September, with a seasonal index of 177.6%, while the lowest number was in February, accounting for only 47.2%; a significant difference was observed in the number of patients in different age groups(H=45 319.48, P<0.05), and patients under 15 years old accounted for the highest proportion(819 284 visits); There were significant differences between patients of different genders in the 45-59 year old group (t=-4.26, P<0.05).There were relatively more patients with allergic rhinitis in Dongcheng District(31.1%) than in Huairou District and Miyun District (0.4%). In conclusion, since 2016, the number of patients increased significantly, with a varied trend in different seasons. Most patients were children. There were more patients in the central urban area than in the outer suburbs.
Child ; Humans ; Female ; Male ; Adolescent ; Middle Aged ; Beijing/epidemiology* ; Big Data ; Epidemics ; Hospitals ; Rhinitis, Allergic/epidemiology*

Objective:To provide references for the vestibular function stability training of military pilots by evaluating the stability of vestibular function of military pilots.Methods:An electric swivel chair was used to train the vestibular function stability of military pilots. According to the order of admission, they were divided into 21-30 years old, 31-40 years old, 41-50 years old and ≥51 years old group, with 30 pilots in each group. The changes of excellent rate, good rate, qualified rate, unqualified rate and tolerance time of the stability of vestibular function by training were compared among different age groups, and the correlation between age and tolerance time was analyzed.Results:There were significant differences of unqualified rate in pilots aged 31-40 and ≥51 years group before and after training ( χ2=4.32, 4.80, Ρ=0.038, 0.028). The failure rate after training was lower than that before training, with a significant difference ( χ2=13.02, P<0.001). The total tolerance time was higher than that before training, and the difference was statistically significant ( t=17.61, P<0.001). The stability tolerance time of pilots in different age groups after vestibular function training were increased compared with that before training, and the differences were statistically significant ( t=6.50, 8.82, 9.48, 13.56, all P<0.001). The stability of vestibular function of military pilots gradually declined with the increase of age, and there was a negative correlation between age and training tolerance time ( r=-0.38, P<0.001). Conclusions:The training of electric swivel chair can improve the vestibular function stability of military pilots, increase the tolerance time, and enhance the tolerance ability of military pilots when vestibular function is stimulated.