Objective:To explore the risk factors for duodenal papillary adenocarcinoma by comparing the differences in clinical and endoscopic features between patients with duodenal papillary adenomas and adenocarcinomas.Methods:This study retrospectively included patients diagnosed as having duodenal papillary adenocarcinoma and adenoma from January 1st 2018 to June 1st 2023 at Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School. Demographic, clinical manifestations, laboratory tests, imaging, endoscopic and pathological characteristics of patients with adenomas and adenocarcinomas were collected and compared. Multivariable logistic regression analysis was employed to identify high-risk factors for duodenal papillary adenocarcinoma.Results:A total of 119 cases of adenocarcinoma and 171 cases of adenoma were included. There were statistically significant differences between the two groups in terms of patient age, body mass index (BMI), clinical symptoms, family history of malignant tumors, bile duct dilation, pancreatic duct dilation, lesion size, adenoma site classification, stage assessed by EUS, and involvement of the bile and pancreatic ducts ( P<0.05). Univariate logistic regression analysis revealed that non-ampullary lesions, involvement not limited to the major duodenal papilla assessed by EUS, involvement of the bile and pancreatic ducts assessed by EUS, age ≥60 years, lesion size ≥1.5 cm, clinical symptoms, family history of malignant tumors, bile duct dilation, and pancreatic duct dilation were risk factors for duodenal papillary adenocarcinoma. Multivariate logistic regression analysis showed that non-ampullary lesions ( OR=7.00, 95% CI:1.44-34.15, P=0.016), involvement not limited to the major duodenal papilla assessed by EUS ( OR=13.77, 95% CI: 4.69-40.45, P<0.001), age ≥60 years ( OR=2.52, 95% CI: 1.23-5.18, P=0.011), bile duct dilation ( OR=2.58, 95% CI: 1.12-5.94, P=0.026), and lesion size ≥1.5 cm ( OR=2.76, 95% CI:1.36-5.59, P=0.005) were independent risk factors for duodenal papillary adenocarcinoma. Conclusion:This study shows the independent risk factors for duodenal papillary adenocarcinoma, which include non-ampullary lesions, involvement not limited to the major duodenal papilla assessed by EUS, age ≥60 years, bile duct dilation, and lesion size ≥1.5 cm.

Humans ; Asthma/drug therapy* ; Biological Therapy

Amyloid ; Amyloid Neuropathies, Familial/genetics* ; China ; Humans ; Mutation ; Prealbumin/genetics*

BACKGROUNDSH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.

METHODSA total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.

RESULTSWe identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.

CONCLUSIONSSH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.

Objective To explore the status, characteristics and factors in relation to occupational stress for medical staffs in tertiary general hospitals. Methods A total of 2460 medical staff were sampled in five tertiary general hospitals in Beijing, with their occupational stress levels evaluated with the Occupational Stress Inventory. Results The top ten stressors as found ranked as heavy duty, high risk exposure, high workload, low wages, setbacks in the health care management system, insufficient staffing, excessively frequent inspections and examinations, strained doctor-patient relationship, price inflation, frequent overtime, and pressure from continuous learning. Occupational stress is seen as moderate and above by 95.2% of the surveyed. Differences in age, gender, marital status, professional title, education, work experience, as well as those of different organizations, departments, professions, and duty were found to be statistically significant in regard of professional stress. Conclusions Stress management should be in place targeting demographic and stress characteristics. Effective measures are recommended to alleviate the pressure on medical staff, in order to maintain their physical and mental health, hence improving their work efficiency and organizational cohesion.

BACKGROUNDRopivacaine and levobupivacaine have been introduced into obstetric analgesic practice with the proposed advantages of causing less motor block and toxicity compared with bupivacaine. However, it is still controversial whether both anesthetics are associated with any clinical benefit relative to bupivacaine for labor analgesia. This study aimed to compare the analgesic efficacy, motor block and side effects of bupivacaine, ropivacaine and levobupivacaine at lower concentrations for patient-controlled epidural labor analgesia.

METHODSFour hundred and fifty nulliparous parturients were enrolled in this randomized clinical trial. A concentration of 0.05%, 0.075%, 0.1%, 0.125% or 0.15% of either bupivacaine (Group B), ropivacaine (Group R) or levobupivacaine (Group L) with sufentanil 0.5 microg/ml was epidurally administered by patient-controlled analgesia mode. Effective analgesia was defined as a visual analogue scale score was

RESULTSThere were no significant differences among groups in the numbers of effective analgesia, pain scores, hourly local anesthetic amount used, sensory and motor blockade, labor duration and mode of delivery, side effects and maternal satisfaction (P>0.05). The relative median potency was bupivacaine/ropivacaine: 0.828 (0.602-1.091), bupivacaine/levobupivacaine: 0.845 (0.617-1.12), ropivacaine/levobupivacaine: 1.021 (0.774-1.354), respectively. However, a significantly less number of effective analgesia and higher hourly local anesthetic use were observed in the concentration of 0.05% than those of >or=0.1% within each group (P<0.05).

CONCLUSIONSUsing patient-controlled epidural analgesia, lower concentrations of bupivacaine, ropivacaine and levobupivacaine with sufentanil produce similar analgesia and motor block and safety for labor analgesia. The analgesic efficacy mainly depends on the concentration rather than the type of anesthetics.

Adult ; Amides ; therapeutic use ; Analgesia, Epidural ; methods ; Analgesia, Obstetrical ; methods ; Analgesia, Patient-Controlled ; methods ; Anesthetics, Local ; therapeutic use ; Bupivacaine ; analogs & derivatives ; therapeutic use ; Female ; Humans ; Labor Pain ; drug therapy ; Labor, Obstetric ; Pregnancy ; Sufentanil ; therapeutic use ; Young Adult

OBJECTIVETo assist the establishment of platform and provide the reference standard for mutation detection in spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese Han population.

METHODSThe nucleotide repeat numbers of the 9 SCA subtypes and DRPLA were detected using fluorescence-PCR and capillary gel electrophoresis technique in 300 healthy Chinese Han individuals.

RESULTSAmong the 300 healthy controls, the range of the CAG trinucleotide repeat number was 17 to 35 in SCA1, 14-28 in SCA2, 13-41 in SCA3/MJD, 4-16 in SCA6, 5-17 in SCA7, 5-21 in SCA12, 23-41 in SCA17, and 12-33 in DRPLA; and the range of CTA/CTG trinucleotide repeat number on SCA8 locus was 12-43 and the range of ATTCT pentanucleotide repeat number on SCA10 locus was 9-32. Of which, the 12 CTA/CTG repeats of SCA8, 9 ATTCT repeats of SCA10, 23 CAG repeats of SCA17 were the shortest normal repeat number, while the 41 CAG repeats of SCA3/MJD, 32 CAG repeats of SCA10 were the largest normal number that have not been reported.

CONCLUSIONThe normal ranges of polynucleotide repeats of different subtypes of SCA vary with geographical areas and ethnicities. It might be associated with the genetic and ethnic backgrounds. This is the first normal reference standard of polynucleotide repeat number of these ten SCA subtypes in Chinese Han.

Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; Base Sequence ; Case-Control Studies ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Myoclonic Epilepsies, Progressive ; ethnology ; genetics ; Spinocerebellar Ataxias ; ethnology ; genetics ; Trinucleotide Repeat Expansion

Objective To determine a stable, exact and direct detection method for expanded nucleotide repeat sequences of the causative gene in patients with hereditary spinocerebellar ataxias (SCAs).Methods Quantitative fluorescent-polymerase chain reaction,8%denaturing polyacrylamide gel electrophoresis(PAGE),capillary electrophoresis(CE)and recombinant DNA technology by direct sequencing technique were employed to detect the CAG-repeat numbers of abnormal allele in 50 patients diagnosed as having SCA3/MJD.And then,the differences of CAG repeat numbers detected by CE and recombinant DNA technology were statistically analyzed.Results Of the 50 patients with SCA3/MJD detected by 8%denaturing PAGE,the expanded CAG repeat numbers measured by CE and recombinant DNA technology ranged from 63 to 74(69.56±2.12)and from 67 to 80(73.72±3.29),respectively.Significantly decreasedtendency was showed in the mean CAG repeat numbers of 69.56±2.12 using CE as compared with that in those of 73.72±3.29 using recombinant DNA technology,(t=-9.61,P=0.000). Conclusion Denaturing PAGE and CE can be used as preliminary screening for nucleotide repeat numbers,while the exact numbers depend on the recombinant DNA and direct sequencing technologies.Recombinant DNA technology combined with direct sequencing is a predominant,stable,exact and direct method to detect the repeat numbers of SCAs and analyze the polymorphism of nucleotide sequence.

OBJECTIVETo investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).

METHODSMutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.

RESULTSNo pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.

CONCLUSIONATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.

Adult ; Age of Onset ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; epidemiology ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Parkinsonian Disorders ; epidemiology ; genetics ; Pedigree ; Polymorphism, Genetic ; Proton-Translocating ATPases ; genetics

Adult ; Asian Continental Ancestry Group ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Parkinsonian Disorders ; genetics ; Pedigree ; Proton-Translocating ATPases ; genetics ; Young Adult