Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.

Objective To explore the effectiveness of the protective emergency ambulance chassis against damage from explosive weapons such as grenades and mines.Methods A 12 mm-thick polyethylene(PE)protective plate and a composite ceramic PE protective plate(1 mm-thick aluminum plate+6 mm-thick B4C ceramic+12 mm-thick high molecular weight polyethylene fiber)were involved in for the protection of the chassis of an emergency ambulance under the premise of meeting the ambulance's protective requirements.Theoretical calculations and simulations were used to analyze the blast damage effects of a 62 g TNT grenade on the PE protective plate and a 6 000 g TNT equivalent mine on the composite ceramic PE protective plate.Results The PE protective plate and composite ceramic PE protective plate were able to withstand the destructive effects of a grenade and a mine at a blast distance of 1.1 m,respectively,and no significant damage was observed in either case.Conclusion The PE protective plate and composite ceramic PE protective plate meet the requirements for mobility,lightweight and protection against damage from explosive weapons such as grenades and mines,and references are provided for designing protection schemes of the protective emergency ambulance chassis.[Chinese Medical Equipment Journal,2024,45(6):23-27]

Humans ; Liver Cirrhosis ; Liver Diseases ; Liver Neoplasms ; Carcinoma, Hepatocellular

Objective: To investigate the relationship of electromagnetic radiation (EMR) from 900 MHz cellphone frequency with testicular oxidative damage and its influence on the Prdx2 protein expression in the rat testis, and to explore the mechanism of Guilingji Capsules (GC) alleviating oxidative damage to the testis tissue. METHODS: Fifty healthy SD male rats were randomly divided into five groups of equal number, sham-EMR, 4-h EMR, 8-h EMR, 4-h EMR+GC and 8-h EMR+GC and exposed to 900 MHz EMR (370 μW/cm2) for 0, 4 or 8 hours daily for 15 successive days. The rats of the latter two groups were treated intragastrically with GC suspension and those of the first three groups with pure water after exposure to EMR each day. After 15 days of exposure and treatment, all the rats were sacrificed and their testis tissue collected for observation of the histomorphological and ultrastructural changes by HE staining and transmission electron microscopy, measurement of the levels of serum glutathione (GSH), superoxide dismutase (SOD) and malondialdehyde (MDA) with thiobarbiuric acid and determination of the Prdx2 protein expression by immunohistochemistry and Western blot. RESULTS: Compared with the rats in the sham-EMR group, those in the 4-h and 8-h EMR groups showed different degrees of histomorphological and ultrastructural changes in the testis tissue, significantly decreased levels of GSH (［80.62 ± 10.99］ vs ［69.58 ± 4.18］ and ［66.17 ± 8.45］ mg/L, P < 0.05) and SOD (［172.29 ± 10.98］ vs ［158.92 ± 6.46］ and ［148.91 ± 8.60］ U/ml, P < 0.05) and increased level of MDA (［7.51 ± 1.73］ vs ［9.84 ± 1.03］ and ［11.22 ± 2.13］ umol/ml, P < 0.05), even more significantly in the 8-h than in the 4-h EMR group (P < 0.05). In comparison with the sham-EMR group, the expression of the Prdx2 protein was markedly downregulated in the 4-h and 8-h EMR groups (0.56 ± 0.03 vs 0.49 ± 0.03, 0.21 ± 0.01, P < 0.05), but again upregulated in the 4-h and 8-h EMR+GC groups (0.55±0.03 and 0.37±0.04) (P < 0.05). CONCLUSIONS Electromagnetic radiation from cellphones can cause ultrastructural damage to the testis tissue of male rats, while Guilingji Capsules can alleviate it, presumably by upregulating the Prdx2 protein expression in the testis tissue and reducing testicular oxidative damage.
Animals ; Capsules ; Cell Phone ; Drugs, Chinese Herbal/therapeutic use* ; Electromagnetic Radiation ; Glutathione/blood* ; Male ; Malondialdehyde/blood* ; Microscopy, Electron, Transmission ; Oxidative Stress ; Peroxiredoxins/metabolism* ; Radiation Injuries, Experimental/drug therapy* ; Rats ; Superoxide Dismutase/blood* ; Testis/pathology* ; Thiobarbituric Acid Reactive Substances/analysis*

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.

Antiviral Agents ; therapeutic use ; Hepacivirus ; Hepatitis C ; drug therapy ; Humans ; Interferons ; therapeutic use

Objective To investigate the distribution and antimicrobial resistance of clinical isolates from surgery wards in Peking Union Medical College Hospital ( PUMCH ) .Methods A total of 3084 non-duplicate clinical isolates were collected from PUMCH surgery wards during the period from January 1, 2012 to December 31, 2013.Disc diffusion test (Kirby-Bauer method) and automated systems were employed to detect the antimicrobial resistance of these isolates .The data were analyzed by WHONET 5.6 software according to Clinical and Laboratory Standards Institute 2013 breakpoints.Results Of the 3084 clinical isolates, the 10 most common bacteria isolated were:A.baumannii (14.1%), E.coli (12.4%), P.aeruginosa (12.4%), K.pneumonia (11.8%), S.aureus (8.9%), E.faecalis (5.4%), coagulase-negative staphylococcus (5.3%), E.cloacae (3.7%), S.maltophilia (3.6%) and E.faecium ( 3.2%) , in which gram-negative bacteria accounted for 71.6% ( 2208 isolates ) and gram-positive accounted for 28.4%(876 isolates).In S.aureus and coagulase-negative staphylococcus, methicil-lin-resistant strains ( MRSA and MRCNS ) accounted for 42.7%(117/274) and 77.3%(119/154) , respectively . The resistance rates of methicillin-resistance strains to β-lactams and other antimicrobial agents were much higher than those of methicillin-susceptive strains including methicillin-susceptible Staphylococcus aureus ( MSSA ) and methicillin-susceptible coagulase-negative Staphylococcus (MSCNS).In addition, 80.3% of MRSA strains were still susceptible to trimethoprim-sulfamethoxazole , while 95.0%of MRCNS strains were susceptible to rifampin .No staphylococcal strains were found resistant to vancomycin , teicoplanin, or linezolid.The drug resistance rates of E.faecalis strains to most antimicrobials tested were much lower than those of E.faecium, except for the resistance rate to chloramphenicol , which was only 4.3%in E.faecium.One strain of E.faecalis and 5 strains of E.faecium were found resistant to vancomycin .No linezolid-resistant strains were found in enterococcal isolates .Extended spectrum β-lactamases ( ESBLs )-producing strains accounted for 56.7% ( 217/383 ) , 23.8% ( 97/408 ) , and 22.8%(13/57) in E.coli, Klebsiella species (K.pneumoniae and K.oxytoca), and P.mirabilis, respectively. The drug resistance rates of ESBLs-producing strains were higher than the corresponding non-ESBLs-producing strains.Enterobacteriaceae strains were still highly susceptible to carbapenems , the overall resistance rates being 1.6%-3.3%.A few pan-resistant strains of K.pneumoniae ( 0.8%, 3/363 ) were identified .The resistance rates of P.aeruginosa to imipenem and meropenem were 19.5%and 15.0%, respectively , while the resistance rate to amikacin was the lowest ( 8.6%) .The resistance rates of A.baumannii to imipenem and meropenem were 74.1%and 74.0%, respectively , compared with the lowest resistance rates to cefoperazone-sulbactam (51.5%) and minocycline (28.9%) .The prevalence of pan-resistant strains in A.baumannii and P.aeruginosa were 44.3%(193/436) and 0.8%(3/381), respectively.Conclusion Regular surveillance of bacterial resistance could pro-vide practical guidance of rational selection of antimicrobial agents for clinicians .

Objective To investigate the antimicrobial resistance of bacteria isolated from clinical samples in Peking Union Medical College Hospital in 2013 .Methods A total of 7236 nonduplicate clinical isolates were collected from January 1 to December 31 , 2013 .Disk diffusion test ( Kirby-Bauer method ) and automated sys-tems were employed to test the antimicrobial resistance of these isolates .The data were analyzed using WHONET 5.6 software and judged according to the Clinical and Laboratory Standards Institute guideline 2013 .Results Of the 7236 nonduplicate clinical isolates , Gram-negative and Gram-positive bacteria accounted for 71.1%(5147) and 28.9%(2089), respectively.Methicillin-resistant Staphalococcus aureus (MRSA) accounted for 34.9%(244/700) and methicillin-resistant coagulase-negative Staphylococcus (MRCNS) accounted for 67.2% (123/183 ) of Staphalococcus aureus isolates .No staphylococcus strains resistant to vancomycin , teicoplanin , or linezol-id were detected .A few strains of Enterococcus faecium were found resistant to vancomycin and teicoplanin .No linezolid-resistant enterococcus strains were found .Extended spectrum β-lactamases ( ESBLs )-producing strains accounted for 49.5%(698/1410), 25.4% (235/925) and 22.6% (30/133) in Escherichia coli, Klebsiella species ( K.pneumoniae and K.oxytoca) and Proteus mirabilis, respectively .The Enterobacteriaceae strains were still highly sensitive to carbapenems , with only 1.5%-2.3%resistant to carbapenems .The resistance rates of Pseudomonas aeruginosa to imipenem and meropenem were 19.4% and 15.6%, respectively .The resistance rates of Acinetobacter baumannii to these two antimicrobials were 70.9% and 72.0%, respectively .The preva-lence of pan-resistant strains in Acinetobacter baumannii was 42.9% ( 306/714 ) .Conclusions Antimicrobial resistance is still a serious problem , especially pan-resistant Acinetobacter baumannii strains.It is mandatory to take effective measures controlling nosocomial infection and ensuring rational antimicrobial use .

OBJECTIVETo observe the effect of Wenyang Yiqi Huoxue Recipe (WYHR) on the apoptosis of photoreceptor cells in retinal degeneration slow (RDS) mice, and to investigate its molecular mechanisms.

METHODSRDS mice were randomly divided into the model group and the Chinese medicine group,and C57BL/6J mice were selected as the normal control group. Each group consisted of 4 female mice and 2 male mice. Mice in the Chinese medicine group were administered with WYHR (10 mg/g) by gastrogavage since mating. Baby mice drunk WYHR decoction instead of drinking water once they were born. The offspring were administrated with low dose WYHR decoction by gastrogavage from the 7th postnatal day, and the dose was increased to that for adult mice from the 21st postnatal day. Physiological saline was administrated to mice in the model group and the normal control group by gastrogavage. At 18, 28 and 48 postnatal days, electroretinogram (ERG) was used to evaluate the retina functional variation, and the apoptotic rate of photoreceptor cells was determined by TUNEL staining. HE staining was performed. The number of photoreceptor cells of the outer nuclear layer was calculated. Furthermore, effect of WYHR on Rhodopsin and basic fibroblast growth factor (bFGF) expression was examined using immunochemical assay.

RESULTSCompared with the model group, a- and b-wave latency and amplitude, as well as the bFGF expression sharply increased in the Max-ERG of the Chinese medicine group (P < 0.05, P < 0.01) at 18 postnatal days. At 28 and 48 postnatal days, a- and b-wave latency and amplitude sharply increased, photoreceptor cell layer numbers of the outer nuclear layer obviously increased, the apoptosis rate of retinal photoreceptor cells obviously decreased, expressions of Rhodopsin and bFGF in the Chinese medicine group significantly increased (P < 0.05, P < 0.01).

CONCLUSIONWYHR could effectively inhibit the apoptosis of photoreceptor cells in RDS mice, which might be attributed to up-regulating bFGF expression.

Animals ; Apoptosis ; drug effects ; Drugs, Chinese Herbal ; pharmacology ; Female ; Fibroblast Growth Factor 2 ; metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Photoreceptor Cells, Vertebrate ; cytology ; drug effects ; Retinal Degeneration ; metabolism ; pathology

Animals ; Gene Expression Profiling ; Hepatocytes ; MicroRNAs ; Oligonucleotide Array Sequence Analysis ; Rats