Jansen-de Vries syndrome, also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, is a rare autosomal dominant disorder characterized by multisystem involvement. This article reports the case of a young child who presented with global developmental delay, gastrointestinal dysfunction, intellectual disability, and short stature. Distinct facial features included a broad forehead, low nasal bridge, thin upper lip, and widely spaced and misaligned teeth. Additional phenotypic findings involved small hands and feet, as well as digital anomalies. Through whole-exome sequencing (WES) and copy number variation (CNV) analysis, a pathogenic variant was identified in the PPM1D gene: c.1281G > A (p.Trp427Ter). This report also reviews the current literature on the clinical characteristics, diagnostic approaches, and therapeutic advances related to this condition, aiming to provide valuable insights for its clinical diagnosis and management.

Objective:This study aims to compare the antiviral treatment similarities and differences in the population covered by the 2024 version of the World Health Organization's (WHO) hepatitis B prevention and treatment guidelines and the current Chinese hepatitis B prevention and treatment guidelines, so as to explore their impact on the indications for antiviral therapy in Chinese patients with chronic hepatitis B (CHB).Methods:The information of patients with chronic hepatitis B virus infection who did not receive antiviral treatment was collected through the registration database of the China Clinical Research Platform for Hepatitis B Elimination. Descriptive statistics were conducted on the demographic, blood, biochemical, and virological levels of patients according to the treatment recommendations of the two versions of the guidelines. The Mann-Whitney U test and χ2 test were used to compare the differences and proportional distribution of the treatment populations covered by the two guidelines. The χ2 test was used to analyze the coverage rate of different antiviral treatment indications.Results:A total of 21,134 CHB patients without antiviral treatment were enrolled. 69.4% of patients met the 2024 versions of the WHO guidelines' recommendations. 85.0% of patients met the current Chinese hepatitis B prevention and treatment guidelines. The WHO guidelines for antiviral therapy indications were met in younger patients with higher levels of ALT, AST, and APRI scores, as well as greater proportion of patients with higher viral loads (P<0.001). The WHO guidelines recommended a cut-off value of APRI>0.5, which raised the proportion of patients on antiviral therapy from 6.6% to 30.9%. 45.7% of patients met the antiviral indications for HBV DNA >2000 IU/ml with abnormal transaminase (ALT>30 U/L for males and ALT>19 U/L for females). The reduced APRI diagnostic cut-off value and ALT treatment threshold had further increased the treatment coverage rate by 91.6% in patients with chronic HBV infection in line with the 2024 versions of WHO guidelines.Conclusion:The reduction of the APRI diagnostic cut-off value and the ALT treatment threshold, based on the current hepatitis B guidelines of China, will further improve the treatment coverage of CHB patients.

Objective:To learn about the monitoring indicators and patient management in coal-burning-borne endemic arsenic poisoning areas in Shaanxi Province, and provide a basis for consolidating and improving the prevention and control achievements.Methods:From March to December 2023, in accordance with the requirements of the "Notice of the Office of Shaanxi Provincial Health Commission on Issuing of the Monitoring Plan for Key Endemic Diseases Such as Kashin-Beck Disease" and "The Monitoring Plan for Endemic Fluorosis and Arsenic Poisoning in Shaanxi Province", a basic situation investigation was conducted in the affected villages of all counties (districts) with coal-burning-borne endemic arsenic poisoning in Shaanxi Province, and on-site visits were conducted to check the management of high arsenic coal mines. Using the simple random sampling method, 30 families in each village were selected to investigate the use of stoves and the formation of health-related behaviors. A survey on arsenic poisoning was carried out among all populations in the affected villages. According to the requirements of the provincial monitoring program, 720 people were randomly selected from 12 affected villages in 3 monitoring counties to measure their urinary arsenic level. The determination was based on the "Guidelines for the Safety of Urinary Arsenic in Population" (WS/T 665-2019). The evaluation for elimination of disease areas was carried out in accordance with the "National Health Commission Issued the Evaluation Approach for Control and Elimination of Priority Endemic Diseases (2019 edition)".Results:A total of 2 cities, 8 counties (districts), 99 townships, and 1 414 affected villages were monitored. All 53 high arsenic coal mines had stopped mining. The rate of qualified improved stoves was 99.97%; the correct utilization rate of qualified improved stoves, and the correct drying rate of corn and chili peppers provided for human consumption in the affected villages were 100.00%. A total of 2 064 138 people were examined, and 2 682 cases of arsenic poisoning were detected, all of whom were historical patients. There were no new cases of arsenic poisoning or skin cancer. There were currently 2 682 arsenic poisoning patients who had received family doctor contract services and implemented follow-up management. The geometric mean of urinary arsenic was 0.016 7 mg/L, which was lower than the safety guideline value for human urinary arsenic (0.032 mg/L).Conclusions:The monitoring indicators in the coal-burning-borne endemic arsenic poisoning areas in Shaanxi Province have reached the elimination standards. In the future, we should continue to strengthen the management of high arsenic coal mines, implement comprehensive prevention and control measures mainly focused on furnace and stove renovation and health promotion, and do a good job in patient management to continuously consolidate and improve the prevention and control achievements.

Objective:To learn about the operation of fluoride reduction and water improvement projects, the current situation of water fluoride level and the changing trend of fluorosis in drinking water-borne endemic fluorosis areas in Shaanxi Province, and to evaluate the effect of prevention and control measures.Methods:From March 2014 to December 2021, 15 endemic villages in drinking water-borne endemic fluorosis areas of Dali, Dingbian, Jingbian, Jingyang and Liquan counties in Shaanxi Province were selected as monitoring villages to investigate the operation of water improvement projects. Water samples were collected, and the water fluoride level was detected according to the "Standard Examination Methods for Drinking Water - Nonmetal Parameters" (GB/T 5750.5-2006). "Diagnosis of Dental Fluorosis" (WS/T 208-2011) was done to detect dental fluorosis in all children aged 8 - 12 who were born and lived in the monitoring village. Using "Diagnostic Standard for Endemic Skeletal Fluorosis" (WS/T 192-2008) and "Determination of Fluoride in Urine - Ion Selective Electrode Method" (WS/T 89-2015), X-ray examination and urine fluoride level test were performed on adults over 25 years old who had lived in the monitoring village for more than 5 years, respectively.Results:From 2014 to 2021, a total of 122 water improvement projects were investigated, all of which were in normal operation. The qualified rate of water fluoride increased from 81.25% (13/16) in 2014 to 100.00% (11/11) in 2021. A total of 5 595 children aged 8 - 12 were examined, 1 790 children with dental fluorosis were detected, with a detection rate of 31.99%. The detection rate of dental fluorosis in children decreased from 52.05% (304/584) in 2014 to 9.68% (93/961) in 2021, showing an overall downward trend (χ 2trend = 533.76, P < 0.001). In 2014, 791 adults were examined, and 256 patients with skeletal fluorosis were detected, the detection rate was 32.36%. In 2019, 770 adults were examined, and 88 patients with skeletal fluorosis were detected, with a detection rate of 11.43%. The detection rate of skeletal fluorosis in adults in 2019 was lower than that in 2014, and the difference was statistically significant (χ 2 = 99.54, P < 0.001). In 2014, 754 adult urine samples were collected, and the geometric mean of urine fluoride was 2.571 mg/L. In 2019, 770 adult urine samples were collected, and the geometric mean of urine fluoride was 1.292 mg/L. The geometric mean of urine fluoride in adults in 2019 was lower than that in 2014, and the difference was statistically significant ( Z = - 12.74, P < 0.001). Conclusions:From 2014 to 2021, the water improvement projects in drinking water-borne endemic fluorosis areas in Shaanxi Province are running normally, and the qualified rate of water fluoride has increased. The incidence of dental fluorosis in children and skeletal fluorosis in adults has decreased. In the later stage, it is necessary to continuously strengthen the monitoring and management of water improvement projects to prevent the rebound of water fluoride from causing residents' illness.

Objective:To evaluate the prevention and control effect of coal-burning-borne endemic fluorosis in Ankang City of Shaanxi Province, so as to provide a scientific basis for formulating precise prevention and control strategies in the future.Methods:From 2019 to 2023, according to the requirements of the "Monitoring Program of Shaanxi Province for Coal-burning-borne Endemic Fluorosis (2019 Edition)", full coverage monitoring was carried out in all affected villages in seven affected counties under the jurisdiction of Ankang City. Using the simple random sampling method, 30 households in each affected village were selected to investigate the use of improved stoves and the formation of health-related behaviors. All children aged from 8 to 12 in the village were examined for the prevalence of dental fluorosis. At the same time, 6 monitoring villages were selected in 2019, and 8 monitoring villages were selected in 2023 to collect real-time urine samples from children aged 8 - 12 for determination of urinary fluoride level. The evaluation for control and elimination of disease areas was carried out in accordance with the "Evaluation Approach for Control and Elimination of Priority Endemic Diseases (2019 Edition)".Results:From 2019 to 2023, a total of 203 880 households were monitored, the rate of qualified improved stoves and the correct use rate of qualified improved stoves were more than 95.00%. The utilization rate of improved stoves decreased from 16.34% (6 584/40 290) in 2019 to 8.89% (3 706/41 700) in 2023, showing a decreasing trend year by year (χ 2trend = 3 400.37, P < 0.001). The utilization rate of clean energy increased from 82.52% (33 247/40 290) in 2019 to 94.36% (39 350/41 700) in 2023, showing an upward trend year by year (χ 2trend = 7 506.09, P < 0.001). The correct drying rate of corn and pepper for human consumption were 100.00%. A total of 455 327 children aged 8 - 12 were examined, and 2 301 cases of dental fluorosis were diagnosed, with a detection rate of 0.51%. Children with dental fluorosis were mainly extremely mild and mild, accounting for 94.87% (2 183/2 301). The dental fluorosis index was 0.012, indicating no trend of fluorosis prevalence. The detection rate of dental fluorosis in children decreased from 0.81% (765/94 537) in 2019 to 0.24% (204/86 066) in 2023, showing a declining trend year by year (χ 2trend = 375.45, P < 0.001). The geometric mean urinary fluoride levels of children aged 8 to 12 in 2019 and 2023 were 0.48 and 0.42 mg/L, respectively, with statistically significant differences between groups ( Z = - 3.05, P = 0.002). As of 2023, 1 390 affected villages had met the elimination criteria. Conclusions:The prevention and control of coal-burning-borne endemic fluorosis in Ankang City has achieved remarkable results, with all seven affected counties reaching the elimination standard. In the future, we should strengthen the management of high fluoride coal mines, continue to promote the use of clean energy, strengthen health promotion and disease monitoring, and continuously consolidate and improve the results of prevention and control.

Objective To explore the clinical effectiveness of emergency upper gastrointestinal bleeding channel for patients with acute upper gastrointestinal bleeding(AUGIB)by the inverse probability of treatment weighted(IPTW)method.Methods A retrospective study method was used.The clinical information was collected on 299 AUGIB patients who belonged to the First People's Hospital of Guiyang,where they were admitted from January 2018 to December 2021.AUGIB patients admitted before the establishment of emergency treatment channel(from January 2018 to December 2019)were selected as the routinel group(152 cases),while AUGIB patients admitted after the establishment of emergency treatment channel(from January 2020 to December 2021)were selected as the channel group(147 cases).IPTW was used to balance multiple confounding variables[gender,age,history of previous underlying diseases,history of non-steroidal anti-inflammatory drug(NSAID)administration,personal history,Glasgow-Blatchford score(GBS),different bleeding etiologies,etc.],a consistent distribution of confounding variables among the groups was achieved after IPTW treatment.The difference of clinical treatment effects between the routine group and the channel group was performed,including time to hemostasis,recurrent bleeding rate,volume of blood transfusions,length of hospital stay,hospitalization cost,intensive care unit(ICU)transfer rate,and mortality etc.were compared.Results After IPTW,the confounding variables were well-balanced between groups.The time to hemostasis[hours:7.90(5.36,11.42)vs.9.92(6.25,18.15)],recurrent bleeding rate[23.1%(34/147)vs.40.1%(61/152)],length of hospital stay[days:8.00(7.00,10.34)vs.9.00(7.00,13.00)],ICU transfer rate[8.8%(13/147)vs.17.7%(27/152)],and mortality[0.7%(1/147)vs.4.5%(7/152)]in channel group were significantly lower than those in the routine group(all P<0.05).There were no significant difference in transfusions volume and hospital cost between channel group and routine group[transfusions volume(U):2(0,4)vs.2(0,4),hospitalization cost(ten thousand yuan):1.35(1.03,2.00)vs.1.16(0.71,2.29),both P>0.05].Conclusion The emergency treatment channel can reduce the recurrent bleeding rate,ICU transfer rate,and mortality rate,shorten the time of hemostasis and length of hospital stay,and has a good treatment effect.

Objective:To explore the differences of gene expression profiles of precursors of exhausted T cells (Tpex) and terminal exhausted T cells (Tex) in the peripheral blood of patients with active pulmonary tuberculosis (ATB).Methods:Twenty-five cases of ATB, 13 cases of latent tuberculosis infection (LTBI) and 10 health controls were enrolled from January 2021 to October 2022 in the Fifth People′s Hospital of Wuxi. The proportions of Tpex and Tex in the peripheral blood mononuclear cells (PBMCs) of the three groups were detected by flowcytometry. PBMCs of ATB were separated into Tpex and Tex by fluorescence-activated cell sorting. RNA-sequencing was performed and up-regulated and down-regulated genes were screended. Differently expressed genes were analyzed by gene set enrichment analysis of gene ontology (GO) to find regulatory pathways affecting cell metabolism and function. Wilcoxon matched-pairs signed rank test, Kruskal-Wallis test and Dunn multiple comparsion test were used for statistical analysis.Results:The proportion of Tpex in ATB group was 2.86%(1.74%), which was lower than 7.93%(6.16%) of Tex, and the difference was statistically significant ( Z=-3.91, P<0.001). The proportions of Tpex and Tex in LTBI group were 9.47%(6.26%) and 7.43%(5.48%), respectively, and the difference was not statistically significant ( Z=-0.93, P=0.345). The proportions of Tpex and Tex in healthy control group were 8.42%(2.69%) and 6.49%(5.14%), respectively, with no statistical significance ( Z=-1.36, P=0.170). There was statistical difference of the proportion of Tpex among the three groups ( H=21.93, P<0.001), and the proportion of Tpex in ATB group was lower than those in LTBI and heathy control groups, and the differences were both statistically significant ( Z=4.16, P<0.001 and Z=3.34, P=0.003, respectively), while the proportions of Tex in these three groups were not statistically different ( H=2.17, P=0.338). Compared with Tex, the gene expressions of memory markers, such as B-cell lymphoma 2 of Tpex were up-regulated, and the gene expressions of exhausted markers, such as lymphocyte activation gene 3 were down-regulated. In terms of cellular metabolism, the gene expressions of mitochondrial protein complex, mitochondrial matrix and oxidative phosphorylation of Tpex were up-regulated, and the gene expressions of glycolysis were down-regulated. The gene expressions of pyruvate metabolism in Tex were up-regulated, and the gene expressions of CD4 + T lymphocyte activation and differentiation and glycolytic process in Tpex were down-regulated. Conclusions:Tpex in ATB express more characteristics of memory cells and less features of exhausted markers compared with Tex, and the function of mitochondria of Tpex preserves well.

Uncovering the risk factors of pulmonary hypertension and its mechanisms is crucial for the prevention and treatment of the disease.In the current study,we showed that experimental periodontitis,which was established by ligation of molars followed by orally smearing subgingival plaques from patients with periodontitis,exacerbated hypoxia-induced pulmonary hypertension in mice.Mechanistically,periodontitis dysregulated the pulmonary microbiota by promoting ectopic colonization and enrichment of oral bacteria in the lungs,contributing to pulmonary infiltration of interferon gamma positive(IFNγ+)T cells and aggravating the progression of pulmonary hypertension.In addition,we identified Prevotella zoogleoformans as the critical periodontitis-associated bacterium driving the exacerbation of pulmonary hypertension by periodontitis,and the exacerbation was potently ameliorated by both cervical lymph node excision and IFNγ neutralizing antibodies.Our study suggests a proof of concept that the combined prevention and treatment of periodontitis and pulmonary hypertension are necessary.

Objective To investigate carboxyl terminus of Hsc70-interacting protein(CHIP)and FAT a-typical cadherin 4(FAT4)expression in colorectal cancer(CRC)tissue and their clinical significance.Methods A total of 92 CRC patients treated in a hospital from May 2018 to May 2020 were selected as the study objects.The expressions of CHIP and FAT4 in CRC tissues and adjacent tissues were detected by im-munohistochemistry.Spearman rank correlation analysis showed the correlation between CHIP and FAT4 ex-pression in CRC tissues.Kaplan-Meier curve was used to analyze the relationship between CHIP and FAT4 expression and survival prognosis of CRC patients.Cox proportional risk model was used to analyze the prog-nostic factors of CRC patients.Results Compared with adjacent tissue,the positive rate of CHIP in CRC tis-sue was higher[65.22％(60/92)vs.10.87％(8/92)]and the positive rate of FAT4 was lower[28.26％(26/92)vs.89.13％(82/92)].The difference was statistically significant(X2=63.075,70.300,P＜0.001).There was a negative correlation between CHIP and FAT4 expression in CRC(r=-0.781,P＜0.001).The positive rates of CHIP and FAT4 were higher in CRC tissues with TNM stage Ⅰ to Ⅱ,high school differenti-ation and no lymph node metastasis,and the positive rates of CHIP and FAT4 were lower in CRC tissues with TNM stage Ⅲ,low differentiation and lymph node metastasis,and the difference was statistically significant(P＜0.05).The 3-year survival rates of CHIP positive and CHIP negative patients were 48.33％(29/60)and 78.13％(25/32),respectively,and the difference was statistically significant(Log-rank X2=6.709,P=0.010).The 3-year survival rates of FAT4-positive and FAT4-negative patients were 81.25％(13/16)and 53.95％(41/76),respectively,with statistical significance(Log-rank X2=5.124,P=0.032).TNM stage Ⅲ,low differentiation,lymph node metastasis and positive CHIP were risk factors for the prognosis of CRC pa-tients,while positive FAT4 was protective factor.Conclusion CHIP expression is increased and FAT4 ex-pression is decreased in CRC tissues.Both expressions are associated with poor clinicopathological features of CRC,which is helpful to evaluate the survival prognosis of CRC patients.

Objective To investigate the current status,obstacles,and specific needs associated with the application of transradial access(TRA)in peripheral interventions in Chinese hospitals,with the aim of promoting the broader adoption of TRA in interventional procedures.Methods The Committee of Interventional Oncology of China Anti-Cancer Association conducted a cross-sectional questionnaire survey to investigate and analyze the nationwide situation of TRA in peripheral interventional surgeries in 2022.Results Personnel from 60 hospitals participated in the questionnaire.The results showed that the number of peripheral interventionals performed using TRA was significantly lower than that performed using transfemoral access(TFA),with considerable variability among hospitals.The primary obstacles to the adoption of TRA were the lack of suitable catheters and the difficulty of radial artery puncture.Approximately 86.67％of the institutions expressed a high expectation for the innovation of new TRA-specific devices,particularly catheters,microcatheters,and guidewires.60.00％of medical institutions indicated a strong desire for systematic training and participation in multi-center clinical trials.Conclusions TRA peripheral intervention is feasible in many hospitals in China,however,systematic training and further promotion of TRA are essential.The innovation of new TRA-specific devices and TRA in peripheral intervention is urgent.