Bronchiolar adenoma (BA) is a rare type of lung tumor characterized by bilayered epithelial cells having a continuous basal layer and a luminal layer. It resembles mucinous adenocarcinoma (MA) on frozen section, with difficulty in distinguishing the basal layer. Immunohistochemistry is the best choice for verifying the diagnosis. This study aimed to comprehensively characterize three cases of BA-combined carcinoma using clinical, histopathological, and genetic features. BA and carcinoma sections were subjected to next-generation sequencing, respectively. It was hypothesized that while different mutation forms matched different regions, BA and lung adenocarcinoma shared the same gene mutation when they co-occurred in the same location. BA with extensive carcinoma is extremely rare and presents diagnostic challenges due to its overlap with conditions such as MA. Because of its distinctive morphological characteristics, BA may be regarded as a low-grade malignancy, particularly during a confusing evaluation. A multifaceted examination of clinical, radiological, immunohistochemical, and genetic data is necessary for an accurate diagnosis.

Objective To examine the changing prevalence and antimicrobial resistance profiles of Burkholderia cepacia in 52 hospitals across China from 2015 to 2021.Methods A total of 9 261 strains of B.cepacia were collected from 52 hospitals between January 1,2015 and December 31,2021.Antimicrobial susceptibility of the strains was tested using Kirby-Bauer method or automated antimicrobial susceptibility testing systems according to a unified protocol.The results were interpreted according to the breakpoints released in the Clinical & Laboratory Standards Institute(CLSI)guidelines(2023 edition).Results A total of 9 261 strains of B.cepacia were isolated from all age groups,especially elderly patients.The proportion was 11.1％(1 032 strains)in children,significantly lower than the proportion in adults.About half(46.5％,4 310/9 261)of the strains were isolated from patients at least 60 years old and 42.3％(3 919/9 261)of the strains were isolated from young adults.Most isolates(71.1％)were isolated from sputum and respiratory secretions,followed by urine(10.7％)and blood samples(8.1％).B.cepacia isolates were highly susceptible to the five antimicrobial agents recommended in the CLSI M100 document(33rd edition,2023).B.cepacia isolates showed relatively higher resistance rates to meropenem and levofloxacin.However,the resistance rates to ceftazidime,trimethoprim-sulfamethoxazole,and minocycline remained below 8.1％.The percentage of B.cepacia strains resistant to levofloxacin was the highest compared to other antibiotics in any of the three age groups(from 12.4％in the patients＜18 years old to 20.6％in the patients aged 60 years or older).Conclusions B.cepacia is one of the clinically important non-fermenting gram-negative bacteria.Accurate and timely reporting of antimicrobial susceptibility test results and ongoing antimicrobial resistance surveillance are helpful for rational prescription of antimicrobial agents and proper prevention and control of nosocomial infections.

Objective To summarize the changing prevalence of carbapenem resistance in Enterobacterales based on the data of CHINET Antimicrobial Resistance Surveillance Program from 2015 to 2021 for improving antimicrobial treatment in clinical practice.Methods Antimicrobial susceptibility testing was performed using a commercial automated susceptibility testing system according to the unified CHINET protocol.The results were interpreted according to the breakpoints of the Clinical & Laboratory Standards Institute(CLSI)M100 31st ed in 2021.Results Over the seven-year period(2015-2021),the overall prevalence of carbapenem-resistant Enterobacterales(CRE)was 9.43％(62 342/661 235).The prevalence of CRE strains in Klebsiella pneumoniae,Citrobacter freundii,and Enterobacter cloacae was 22.38％,9.73％,and 8.47％,respectively.The prevalence of CRE strains in Escherichia coli was 1.99％.A few CRE strains were also identified in Salmonella and Shigella.The CRE strains were mainly isolated from respiratory specimens(44.23±2.80)％,followed by blood(20.88±3.40)％and urine(18.40±3.45)％.Intensive care units(ICUs)were the major source of the CRE strains(27.43±5.20)％.CRE strains were resistant to all the β-lactam antibiotics tested and most non-β-lactam antimicrobial agents.The CRE strains were relatively susceptible to tigecycline and polymyxins with low resistance rates.Conclusions The prevalence of CRE strains was increasing from 2015 to 2021.CRE strains were highly resistant to most of the antibacterial drugs used in clinical practice.Clinicians should prescribe antimicrobial agents rationally.Hospitals should strengthen antibiotic stewardship in key clinical settings such as ICUs,and take effective infection control measures to curb CRE outbreak and epidemic in hospitals.

Objective To characterize the changing species distribution and antibiotic resistance profiles of respiratory isolates in hospitals participating in the CHINET Antimicrobial Resistance Surveillance Program from 2015 to 2021.Methods Commercial automated antimicrobial susceptibility testing systems and disk diffusion method were used to test the susceptibility of respiratory bacterial isolates to antimicrobial agents following the standardized technical protocol established by the CHINET program.Results A total of 589 746 respiratory isolates were collected from 2015 to 2021.Overall,82.6％of the isolates were Gram-negative bacteria and 17.4％were Gram-positive bacteria.The bacterial isolates from outpatients and inpatients accounted for(6.0±0.9)％and(94.0±0.1)％,respectively.The top microorganisms were Klebsiella spp.,Acinetobacter spp.,Pseudomonas aeruginosa,Staphylococcus aureus,Haemophilus spp.,Stenotrophomonas maltophilia,Escherichia coli,and Streptococcus pneumoniae.Each microorganism was isolated from significantly more males than from females(P＜0.05).The overall prevalence of methicillin-resistant S.aureus(MRSA)was 39.9％.The prevalence of penicillin-resistant S.pneumoniae was 1.4％.The prevalence of extended-spectrum β-lactamase(ESBL)-producing E.coli and K.pneumoniae was 67.8％and 41.3％,respectively.The overall prevalence of carbapenem-resistant E.coli,K.pneumoniae,Enterobacter cloacae,Pseudomonas aeruginosa,and Acinetobacter baumannii was 3.7％,20.8％,9.4％,29.8％,and 73.3％,respectively.The prevalence of β-lactamase was 96.1％in Moraxella catarrhalis and 60.0％in Haemophilus influenzae.The H.influenzae isolates from children(＜18 years)showed significantly higher resistance rates to β-lactam antibiotics than the isolates from adults(P＜0.05).Conclusions Gram-negative bacteria are still predominant in respiratory isolates associated with serious antibiotic resistance.Antimicrobial resistance surveillance should be strengthened in clinical practice to support accurate etiological diagnosis and appropriate antimicrobial therapy based on antimicrobial susceptibility testing results.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

Objective:To summarize the clinical manifestations, diagnosis and treatment of a family with hereditary sensory and autonomic neuropathy (HSAN) caused by the SPTLC1 gene variation and to review the literature. Methods:Case summary.The clinical manifestations, neuroelectrophysiology, genetic examination, treatment and follow-up of a family with autosomal dominant HSAN diagnosed at the Department of Neurology, Beijing Children′s Hospital in March 2024 were summarized.At the same time, related English and Chinese literatures were searched from CNKI, Wanfang and PubMed databases from their establishment to July 2024, with " serine palmitoyltransferase long-chain base subunits 1", " hereditary sensory and autonomic neuropathy", " SPTLC1" and " HSAN1" taken as key words.Results:The proband was a 11-year-and-2-month-old boy, who developed limited bending at the age of 7.The patient had ankle pain and knee bending during walking, and limited movement.He could neither jump on one foot nor bend down to pick up things from the ground, but there was no obvious sensory and autonomic nervous function abnormalities.His parents had no abnormal clinical manifestations.Neuroelectrophysiology showed peripheral nerve damage, and family whole exon sequencing revealed a maternal heterozygous missense variation of the SPTLC1 gene c.1015G>A, p.A339T(maternal origin, reported).Further maternal neuroelectrophysiology examination and sphingomyelin analysis confirmed the diagnosis of HSAN1A.The proband wore orthopedic insoles, and the proband and his mother took L-serine orally for 8 months.During the follow up, the proband reported slight improvement in muscle strength, and no adverse reactions were found.Two Chinese and thirteen English case reports on autosomal dominant HSAN caused by the SPTLC1 gene variation were retrieved.Twenty cases had complete clinical data.Therefore, a total of 22 cases, including the above-mentioned two patients, were analyzed.Except for patients whose age at diagnosis is unknown and who are deceased, the age at diagnosis ranged from 7 to 93 years.The 66.7%(14/21) cases were childhood-onset.The first clinical symptoms were mainly gait abnormalities, easy falls, sensory disorders and ulcers.Foot deformity, and autonomic neuropathy were detected in 53.3% (8/15), and 31.6% (6/19) cases, respectively, 15.8% (3/19) of the cases had amputation.Only 1 case was treated with L-serine, who showed partial relief of clinical symptoms, but electromyography was not significantly improved.Fifteen cases received neuroelectrophysiological testing, and 78.6%(11/14) of the patients showed sensory and motor neurogenic injuries.All the gene variations reported previously were missense mutations, and the high frequency variation was p. C133T/W. Conclusions:This study is helpful to improve the understanding of the clinical characteristics of HSAN1A caused by the SPTLC1 gene.Oral L-serine supplementation may benefit patients and gene detection promotes diagnosis confirmation and early treatment.

Objective:To compare the clinical effects of different patches in laparoscopic inguinal hernia repair surgery for young male patients with inguinal hernia.Method:This study used a retrospective study design,117 young male patients with inguinal hernia who were admitted to our hospital from April 2022 to April 2024 were selected,all patients underwent laparoscopic inguinal hernia repair surgery,they were divided into Group A(41 cases,used polypropylene patches),Group B(37 cases,used self fixing patches)and Group C(39 cases,used 3D Max patches)according to the type of patch.Surgical indicators,visual analogue scale(VAS)scores at different time points,inflammatory stress indicators levels before and 1d after surgery[high sensitivity c-reactive protein(hs-CRP),cortisol(Cor),β-endorphine(β-EP),tumor necrosis factor-α(TNF-α)]and the incidence of postoperative complications and recurrence rate were compared among three groups.Result:The operation time and hospitalization time of Group B and Group C were shorter than those of Group A,and the intraoperative blood loss was less than that of Group A(P＜0.05).Compared with 1 d after surgery,VAS scores of the three groups at 3 d after surgery,7 d after surgery gradually decreased,VAS scores of the Group B at 3 d after surgery,7 d after surgery were lower than those in the Group A,VAS scores of the Group C at 3 d after surgery,7 d after surgery were lower than those in the Group B(P＜0.05).Compared with before surgery,hs-CRP,TNF-α,Cor and[3-EP increased among three groups at 1 d after suegrey,hs-CRP,TNF-α,Cor and β-EP of Group B at 1 d after surgery were lower than those of Group A(P＜0.05).hs-CRP,TNF-α,Cor and[3-EP of Group C at 1 d after surgery were lower than those of Group B(P＜0.05).The total incidence of postoperative complications and recurrence rate of Group B and Group C were lower than those of Group A(P＜0.05),and there was no significant difference in the total incidence of postoperative complications and recurrence rate between Group B and Group C(P＞0.05).Conclusion:Compared with polypropylene patches,3D Max patches and self fixing patches can better shorten surgical time and hospitalization time,reduce intraoperative blood,but 3D Max patches are more effective in reducing pain and inflammatory stress response.

Objective:To analyze the genetic characteristics of the VWF gene c.7332G＞A nonsense mutation and explore its molecular pathogenesis.Methods:Phenotypic diagnosis of the proband was performed using VWF:Ag,VWF:RCo,FⅧ:C and multimeric analysis.The probands were genotyped by NGS whole-exome sequencing,and the sequencing results were validated by sanger sequencing.The family members were genotyped by Sanger sequencing.The VWF gene c.7332G＞A nonsense mutant plasmid was constructed.After transfection,the function of VWF gene c.7332G＞A mutant plasmid was verified at cell level in vitro.The mRNA level was detected by qRT-PCR,and the expression level of protein was detected by Western blot,the function of multimerization was verified by the multimeric analysis.Results:VWF:Ag and VWF:RCo were all less than 3％in the proband,and the multimeric analysis showed multimer deficiency.The proband was diagnosed as type 3 VWD.The homozygous nonsense mutation of VWF gene c.7332G＞A was detected by gene sequencing.The VWF mRNA level of the mutant plasmid was decreased,and the VWF protein expression in the cell supernatant was decreased,the mutant protein was truncated and the function of VWF multimerization was impaired.Conclusion:A homozygous mutation in exon 43 of VWF gene,c.7332G＞A,was responsible for the probands type 3 VWD in the proband.The mutation caused a decrease in the relative level of VWF mRNA and protein,and impaired the function of VWF multimerization.

The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.