Objective:To investigate the clinical and pathological significance of the DICER1 mutation in follicular thyroid carcinoma (FTC).Methods:Sixty-eight cases of primary FTC resected between 2009 and 2023 were retrieved from The Affiliated Hospital of Qingdao University, Qingdao, China. Sanger sequencing was performed to identify DICER1 and TERT promoter mutations in all cases. Cases with DICER1 or TERT promoter mutations were subject to additional examination of potential mutations in KRAS, HRAS, and NRAS. The clinical and pathological features of DICER1-mutant FTCs were then analyzed. The relationship between DICER1 mutations and TERT-promoter/RAS mutations was also assessed.Results:DICER1 mutations were detected in 16 of the 68 FTC cases (23.5%), with 11 near E1813 at exon 25, 6 near D1709 at exon 24, and 1 in the splice region of exon 25. Two cases harbored two (distinct) mutations. All patients with DICER1-mutant FTC were female. Compared with patients with DICER1-wild-type FTC, those with DICER1-mutant were much younger, and had a higher proportion of minimally invasive subtype. Nine FTCs with DICER1 mutations were subject to further sequencing on adjacent non-cancerous tissues or lymph node tissues, but no mutations were detected. TERT-promoter or RAS hotspot mutations were not identified in any of the DICER1-mutant cases. However, TERT-promoter mutation was found in 6 DICER1-wild-type cases (8.8%, 6/68), with 3 cases also having RAS hotspot mutations and exhibiting highly aggressive biological behaviors.Conclusion:DICER1 mutations may occur in FTCs and appear mutually exclusive with RAS and TERT-promoter mutations, warranting further study as RAS-like mutations.

Objective:To investigate the clinical characteristics of urea cycle disorder (UCD), the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy in pediatric patients with UCD.Methods:This study was a retrospective, single-arm, multicenter clinical study. The clinical data of 20 pediatric patients with UCD who received GPB treatment at 9 hospitals nationwide between December 2021 and August 2024 were collected. The clinical manifestations, laboratory results, and molecular genetic characteristics were analyzed, ammonia levels and other laboratory results were evaluated pre-post GPB therapy by paired t-tests or Wilcoxon tests. Results:Among the 20 pediatric patients with UCD, there were 8 males and 12 females, and the onset age was 2.8 (1.4, 5.7) years. The ammonia levels were 174 (125, 342) μmol/L at first onset. The symptoms included vomiting in 6 cases, drowsiness in 5 cases, epilepsy in 5 cases, developmental delay in 5 cases, psychiatric and behavioral abnormalities in 3 cases, and lethargy in 1 case, and 18 cases exhibited abnormal liver function. Twenty cases included 6 UCD subtypes, with 11 cases being ornithine transcarbamylase deficiency. A total of 27 variants were identified, 11 (41%) of which were novel. The age of patients who began GPB therapy was 4.0 (1.5, 6.6) years. Ten cases stopped GPB after 4.2 (3.4, 5.3) months, with 4 patients undergoing liver transplantation and 6 discontinuing for financial reasons. The remaining ten patients continued GPB therapy for 11.6 (8.6, 14.0) months. The duration of GPB treatment was 6.0 (4.2, 12.3) months, at the final visit, the levels of ammonia, platelets and aspartate aminotransferase were lower compared to those of pre-treatment (all P<0.05). The serum albumin level was higher than that of pre-treatment ( P=0.016). Two patients suffered only one episode of acute hyperammonaemia, with ammonia levels of 232 and 141 μmol/L, respectively. Nine cases experienced adverse effects potentially related to GPB, decreased appetite in 6 cases, vomiting in 3 cases, abnormal skin oil odor in 2 cases, somnolence, fatigue and diarrhea each in 1 case, with symptoms improved within 6 (3, 10) days. Conclusions:UCD primarily manifests with neurological and gastrointestinal symptoms, and early diagnosis of UCD could be achieved through the analysis of ammonia. GPB may effectively reduce ammonia levels in UCD pediatric patients, with favorable safety and tolerability.

OBJECTIVE To investigate the current status of etiological submission for hospitalized patients in hospi-tals of a city before the antimicrobial treatment so as to provide basis for the etiological submission.METHODS From Jan.2022 to Dec.2022,a questionnaire survey was conducted for the status of etiological submission before antimicrobial treatment in 32 secondary and tertiary medical institutions of Huaian by Huaian Nosocomial Infection Management Quality Control Center.RESULTS The data from 28 hospitals were analyzed.Less awareness of sub-mission of healthcare workers and incomplete items for etiological test were the major influencing factors for the etiological submission.85.71％(24)of the hospitals have embedded the common names of antimicrobial drugs in-to the medical order system,and only 42.86％of the hospitals had the prompts for etiological submission in the information systems.A great deal of hospitals failed to execute the etiological submission and capture time for use of antibiotics according to national standards,only 5 hospitals met the standards for the capture[executing by scanning on personal digital assistant(PDA)].The majority of the hospitals only carried out'microbial culture and drug susceptibility testing',and there was deficiency in the test items.The diagnosis-related etiological submission rate of the tertiary hospitals was(87.49±10.77)％,higher than(64.45±30.59)％of the secondary hospitals(t=-2.250,P=0.036).The etiological submission rate before the antimicrobial treatment and the etiological submis-sion rate before the combined use of key drugs were higher in the tertiary hospitals than in the secondary hospi-tals,and there were no significant differences.CONCLUSIONS The hospitals vary in degree of execution of etiolog-ical submission before the antimicrobial treatment,and the secondary hospitals achieve lower effect on manage-ment than the tertiary hospitals.It is necessary for the medical institutions to carry out the etiological submission scientifically according to the standards so as to facilitate the reasonable use of antibiotics.

Objective To study the death status of pancreatic cancer among residents in Xuhui district, Shanghai, from 1992 to 2021, and analyze its trends of change, so as to provide evidence for the prevention and treatment of pancreatic cancer. Methods Based on the database of Shanghai death registration system from 1992 to 2021, the crude mortality rate, standardized mortality rate, age-specific mortality rate and other indicators of pancreatic cancer among registered residents in Xuhui district were calculated. The Joinpoint software was used to analyze the trends of average annual percent change (AAPC) of pancreatic cancer mortality rate, and the age-period-cohort model was used to analyze the age effect, period effect and birth cohort effect pairs significant changes in pancreatic cancer mortality. Results In 2021, the mortality rate of pancreatic cancer in Xuhui district, Shanghai, ranked fourth among malignant tumors, and the winning rate and world standard rate of the whole population, males and females were 8.34/100 000 (8.81/100 000, 7.98/100 000) and 7.28/100 000 (7.69/100 000, 6.96/100 000), respectively, with males higher than females. AAPC of crude mortality rate and the standardized (6) mortality rate were higher in males than that in females. The age-specific mortality rate increased with the increase of age, and the highest mortality rate was found in 60-84 years old group. The age-period-cohort model showed that from 1992 to 2021, the annual net shift of pancreatic cancer mortality among the whole population, male and female residents in Xuhui district, Shanghai, was 1.22%, 1.58%, 1.15% (P=0.20, 0.19, 0.45) respectively, and the time trend was not significant. From the perspective of age effect, the risk of death from pancreatic cancer in the whole population and with age deviation in males had an obvious trend with increasing age (P<0.05), while the age effect in females had no obvious trend. From the perspective of period effect, no period deviation was significant in the whole population, males and females (P>0.05). In terms of cohort effects, there were significant differences in the whole population and the male cohort deviations(P<0.05). No significant cohort effect was observed in the female population. Conclusions The mortality rate of pancreatic cancer among registered residents in Xuhui district, Shanghai from 1992 to 2021, was on the rise, especially in the 60-84 years old group and male. The prevention and control of pancreatic cancer needs to develop effective epidemic prevention measures for corresponding populations.

Objective To identify latent classes of medication adherence change trajectories in middle-aged and young patients with hypertension based on the Latent Growth Mixture Modeling(LGMM)and analyze its influencing factors.Methods A convenience sampling method was used to select 258 middle-aged and young patients with hypertension as study subjects.A cross-sectional sur-vey was conducted on their general information,medication beliefs,self-management behaviors,and Family Care Index.Medication adherence was assessed one day before discharge(T0),one month after discharge(T1),three months after discharge(T2),and six months after discharge(T3).LGMM was used to identify latent classes of change trajectories,and univariate analysis and multivari-ate Logistic regression analysis were conducted to explore the influencing factors.Results After ex-cluding 30 invalid data,228 patients were ultimately included in this study.LGMM fitting results showed that medication adherence change trajectories comprised three latent classes:low adherence-fluctuating group(31.58％),medium adherence-continuously increasing group(32.46％),and high adherence-gradually declining group(35.96％).Multivariate Logistic regression analysis results indi-cated that age,medication types,medication belief scores,self-management behavior scores,and Fam-ily Care Index scores were all independent influencing factors for latent classes of medication adherence change trajectories in middle-aged and young patients with hypertension(P＜0.05).Conclusion There is significant population heterogeneity in medication adherence among middle-aged and young pa-tients with hypertension,with varying change trajectories observed.Healthcare professionals should identify target populations early and formulate targeted intervention programs based on the influen-cing factors of different latent classes to effectively improve patients' medication adherence.

Objective To explore the quantitative electroencephalography(qEEG)characteristics of the prefrontal cortex in patients with mild cognitive impairment(MCI)during digital screening tasks for MCI screening.Methods A total of 592 MCI patients(MCI group)and 317 normal cognitively elderly individuals(control group)were recruited from 40 communities in Nanjing,Jiangsu Province,from July to August,2024.All participants were as-sessed using Montreal Cognitive Assessment-Beijing Version(MoCA-BJ).Prefrontal EEG data were collected using a portable EEG device,and power spectral analysis was performed via Fast Fourier Transform.An XG-Boost algorithm was employed to construct an MCI identification model based on qEEG power features,and the model's performance was evaluated using receiver operating characteristic(ROC)curve.Results Compared with the control group,prefrontal δ,α,and β band power increased during screening tasks in MCI group(P<0.05);δ power was negatively correlated with MoCA-BJ total scores,and visuospatial/executive func-tion,attention and delayed recall scores(r=-0.269,-0.169,-0.133,-0.171,P<0.001);α power was negative-ly correlated with MoCA-BJ total scores,attention and delayed recall scores(r=-0.113,-0.075,-0.091,P<0.05).The XGBoost model based on δ and α power was excellent in MCI identification,with an area under the curve of 0.91,accuracy of 0.81,precision of 0.89,F1 score of 0.84,recall of 0.80,and specificity of 0.81.Conclusion MCI patients exhibit increased power in the prefrontal δ and α frequency bands during digital screening tasks,which is associated with cognitive decline.An XGBoost model based on qEEG power features can enable early prediction of MCI.

OBJECTIVE To investigate the current status of etiological submission for hospitalized patients in hospi-tals of a city before the antimicrobial treatment so as to provide basis for the etiological submission.METHODS From Jan.2022 to Dec.2022,a questionnaire survey was conducted for the status of etiological submission before antimicrobial treatment in 32 secondary and tertiary medical institutions of Huaian by Huaian Nosocomial Infection Management Quality Control Center.RESULTS The data from 28 hospitals were analyzed.Less awareness of sub-mission of healthcare workers and incomplete items for etiological test were the major influencing factors for the etiological submission.85.71％(24)of the hospitals have embedded the common names of antimicrobial drugs in-to the medical order system,and only 42.86％of the hospitals had the prompts for etiological submission in the information systems.A great deal of hospitals failed to execute the etiological submission and capture time for use of antibiotics according to national standards,only 5 hospitals met the standards for the capture[executing by scanning on personal digital assistant(PDA)].The majority of the hospitals only carried out'microbial culture and drug susceptibility testing',and there was deficiency in the test items.The diagnosis-related etiological submission rate of the tertiary hospitals was(87.49±10.77)％,higher than(64.45±30.59)％of the secondary hospitals(t=-2.250,P=0.036).The etiological submission rate before the antimicrobial treatment and the etiological submis-sion rate before the combined use of key drugs were higher in the tertiary hospitals than in the secondary hospi-tals,and there were no significant differences.CONCLUSIONS The hospitals vary in degree of execution of etiolog-ical submission before the antimicrobial treatment,and the secondary hospitals achieve lower effect on manage-ment than the tertiary hospitals.It is necessary for the medical institutions to carry out the etiological submission scientifically according to the standards so as to facilitate the reasonable use of antibiotics.

Objective To explore the quantitative electroencephalography(qEEG)characteristics of the prefrontal cortex in patients with mild cognitive impairment(MCI)during digital screening tasks for MCI screening.Methods A total of 592 MCI patients(MCI group)and 317 normal cognitively elderly individuals(control group)were recruited from 40 communities in Nanjing,Jiangsu Province,from July to August,2024.All participants were as-sessed using Montreal Cognitive Assessment-Beijing Version(MoCA-BJ).Prefrontal EEG data were collected using a portable EEG device,and power spectral analysis was performed via Fast Fourier Transform.An XG-Boost algorithm was employed to construct an MCI identification model based on qEEG power features,and the model's performance was evaluated using receiver operating characteristic(ROC)curve.Results Compared with the control group,prefrontal δ,α,and β band power increased during screening tasks in MCI group(P<0.05);δ power was negatively correlated with MoCA-BJ total scores,and visuospatial/executive func-tion,attention and delayed recall scores(r=-0.269,-0.169,-0.133,-0.171,P<0.001);α power was negative-ly correlated with MoCA-BJ total scores,attention and delayed recall scores(r=-0.113,-0.075,-0.091,P<0.05).The XGBoost model based on δ and α power was excellent in MCI identification,with an area under the curve of 0.91,accuracy of 0.81,precision of 0.89,F1 score of 0.84,recall of 0.80,and specificity of 0.81.Conclusion MCI patients exhibit increased power in the prefrontal δ and α frequency bands during digital screening tasks,which is associated with cognitive decline.An XGBoost model based on qEEG power features can enable early prediction of MCI.

Objective:To investigate the clinical and pathological significance of the DICER1 mutation in follicular thyroid carcinoma (FTC).Methods:Sixty-eight cases of primary FTC resected between 2009 and 2023 were retrieved from The Affiliated Hospital of Qingdao University, Qingdao, China. Sanger sequencing was performed to identify DICER1 and TERT promoter mutations in all cases. Cases with DICER1 or TERT promoter mutations were subject to additional examination of potential mutations in KRAS, HRAS, and NRAS. The clinical and pathological features of DICER1-mutant FTCs were then analyzed. The relationship between DICER1 mutations and TERT-promoter/RAS mutations was also assessed.Results:DICER1 mutations were detected in 16 of the 68 FTC cases (23.5%), with 11 near E1813 at exon 25, 6 near D1709 at exon 24, and 1 in the splice region of exon 25. Two cases harbored two (distinct) mutations. All patients with DICER1-mutant FTC were female. Compared with patients with DICER1-wild-type FTC, those with DICER1-mutant were much younger, and had a higher proportion of minimally invasive subtype. Nine FTCs with DICER1 mutations were subject to further sequencing on adjacent non-cancerous tissues or lymph node tissues, but no mutations were detected. TERT-promoter or RAS hotspot mutations were not identified in any of the DICER1-mutant cases. However, TERT-promoter mutation was found in 6 DICER1-wild-type cases (8.8%, 6/68), with 3 cases also having RAS hotspot mutations and exhibiting highly aggressive biological behaviors.Conclusion:DICER1 mutations may occur in FTCs and appear mutually exclusive with RAS and TERT-promoter mutations, warranting further study as RAS-like mutations.

Objective:To investigate the clinical characteristics of urea cycle disorder (UCD), the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy in pediatric patients with UCD.Methods:This study was a retrospective, single-arm, multicenter clinical study. The clinical data of 20 pediatric patients with UCD who received GPB treatment at 9 hospitals nationwide between December 2021 and August 2024 were collected. The clinical manifestations, laboratory results, and molecular genetic characteristics were analyzed, ammonia levels and other laboratory results were evaluated pre-post GPB therapy by paired t-tests or Wilcoxon tests. Results:Among the 20 pediatric patients with UCD, there were 8 males and 12 females, and the onset age was 2.8 (1.4, 5.7) years. The ammonia levels were 174 (125, 342) μmol/L at first onset. The symptoms included vomiting in 6 cases, drowsiness in 5 cases, epilepsy in 5 cases, developmental delay in 5 cases, psychiatric and behavioral abnormalities in 3 cases, and lethargy in 1 case, and 18 cases exhibited abnormal liver function. Twenty cases included 6 UCD subtypes, with 11 cases being ornithine transcarbamylase deficiency. A total of 27 variants were identified, 11 (41%) of which were novel. The age of patients who began GPB therapy was 4.0 (1.5, 6.6) years. Ten cases stopped GPB after 4.2 (3.4, 5.3) months, with 4 patients undergoing liver transplantation and 6 discontinuing for financial reasons. The remaining ten patients continued GPB therapy for 11.6 (8.6, 14.0) months. The duration of GPB treatment was 6.0 (4.2, 12.3) months, at the final visit, the levels of ammonia, platelets and aspartate aminotransferase were lower compared to those of pre-treatment (all P<0.05). The serum albumin level was higher than that of pre-treatment ( P=0.016). Two patients suffered only one episode of acute hyperammonaemia, with ammonia levels of 232 and 141 μmol/L, respectively. Nine cases experienced adverse effects potentially related to GPB, decreased appetite in 6 cases, vomiting in 3 cases, abnormal skin oil odor in 2 cases, somnolence, fatigue and diarrhea each in 1 case, with symptoms improved within 6 (3, 10) days. Conclusions:UCD primarily manifests with neurological and gastrointestinal symptoms, and early diagnosis of UCD could be achieved through the analysis of ammonia. GPB may effectively reduce ammonia levels in UCD pediatric patients, with favorable safety and tolerability.