Glycogen storage disease type Ⅱ,also known as Pompe disease,is an autosomal recessive metabolic myopathy with pulmonary hypertension as a rare complication.We reported a case of pulmonary hypertension in adult with late-onset glycogen storage disease type Ⅱ.Her arterial blood gas results indicated type Ⅱ respiratory failure,lung function indicated severe restricted ventilation dysfunction,sleep monitoring indicated severe sleep apnea hypopnea,severe nocturnal hypoxemia,echocardiography-derived systolic pulmonary pressure was 62 mmHg(1 mmHg=0.133 kPa),electromyography indicated myogenic lesion,and whole exon sequencing indicated GAA gene mutation.Supportive therapy and enzyme replacement therapy are applied in this patient.

Objectives:To observe the effectiveness and safety of recombinant human brain natriuretic peptide(rhBNP)for the treatment of patients with right heart failure caused by pulmonary arterial hypertension(PAH).Methods:A total of 421 patients with right heart failure caused by PAH who were hospitalized in Fuwai Hospital from January 2019 to June 2024 were retrospectively included in this study.All patients were treated with rhBNP on top of conventional therapy.24 h urine volume,body weight,liver and renal function index,electrolyte,uric acid,red blood cell distribution width(RBCDW),cardiac function,blood pressure and heart rate before and after the treatment of rhBNP were compared.Clinical symptoms,signs and the occurrence of adverse events during treatment were also observed.Results:Compared with baseline,after treatment with rhBNP,the 24 h urine volume increased.The levels of body weight,transaminase,total bilirubin,direct bilirubin,uric acid,RBCDW,systolic blood pressure,heart rate,and N-terminal pro-B-type natriuretic peptide significantly decreased(all P<0.05).There were no statistically significant differences in the levels of serum creatinine,and tricuspid annular plane systolic excursion to pulmonary artery systolic pressure ratio(both P>0.05).Dyspnea and lower limbs edema were improved in 75.2%cases(227/302)and 66.9%cases(281/420)respectively.The incidence of adverse events and severe adverse events during rhBNP treatment were 1.2%(5/421)and 0.5%(2/421)respectively.Conclusions:Adding rhBNP on top of standard medication can effectively increase 24 h urine volume,reduce body weight,improve some prognostic indicators,improve the clinical symptoms and signs of heart failure without negatively affecting the renal function in right heart failure patients caused by PAH.Blood pressure should be closely monitored during the treatment process.

Glycogen storage disease type Ⅱ,also known as Pompe disease,is an autosomal recessive metabolic myopathy with pulmonary hypertension as a rare complication.We reported a case of pulmonary hypertension in adult with late-onset glycogen storage disease type Ⅱ.Her arterial blood gas results indicated type Ⅱ respiratory failure,lung function indicated severe restricted ventilation dysfunction,sleep monitoring indicated severe sleep apnea hypopnea,severe nocturnal hypoxemia,echocardiography-derived systolic pulmonary pressure was 62 mmHg(1 mmHg=0.133 kPa),electromyography indicated myogenic lesion,and whole exon sequencing indicated GAA gene mutation.Supportive therapy and enzyme replacement therapy are applied in this patient.

Objectives:To observe the effectiveness and safety of recombinant human brain natriuretic peptide(rhBNP)for the treatment of patients with right heart failure caused by pulmonary arterial hypertension(PAH).Methods:A total of 421 patients with right heart failure caused by PAH who were hospitalized in Fuwai Hospital from January 2019 to June 2024 were retrospectively included in this study.All patients were treated with rhBNP on top of conventional therapy.24 h urine volume,body weight,liver and renal function index,electrolyte,uric acid,red blood cell distribution width(RBCDW),cardiac function,blood pressure and heart rate before and after the treatment of rhBNP were compared.Clinical symptoms,signs and the occurrence of adverse events during treatment were also observed.Results:Compared with baseline,after treatment with rhBNP,the 24 h urine volume increased.The levels of body weight,transaminase,total bilirubin,direct bilirubin,uric acid,RBCDW,systolic blood pressure,heart rate,and N-terminal pro-B-type natriuretic peptide significantly decreased(all P<0.05).There were no statistically significant differences in the levels of serum creatinine,and tricuspid annular plane systolic excursion to pulmonary artery systolic pressure ratio(both P>0.05).Dyspnea and lower limbs edema were improved in 75.2%cases(227/302)and 66.9%cases(281/420)respectively.The incidence of adverse events and severe adverse events during rhBNP treatment were 1.2%(5/421)and 0.5%(2/421)respectively.Conclusions:Adding rhBNP on top of standard medication can effectively increase 24 h urine volume,reduce body weight,improve some prognostic indicators,improve the clinical symptoms and signs of heart failure without negatively affecting the renal function in right heart failure patients caused by PAH.Blood pressure should be closely monitored during the treatment process.

Objective::To examine the impact of hypertensive disorders of pregnancy (HDP) on offspring metabolomics.Methods::We searched five databases: PubMed, Ovid Embase, MEDLINE, Web of Science, and China National Knowledge Infrastructure, and included studies that reported metabolomics among human offspring born to HDP-complicated pregnancies.Results::Database search yielded 4054 articles, and after full-text screening, ten observational studies met inclusion criteria. Half of the studies had a sample size of less than 100 and were all observational studies in preeclampsia (PE) and gestational hypertension.Neonates were the most focused group in all included studies. Offspring born to HDP-complicated pregnancies exhibited statistically significant variations in blood metabolomics compared to their counterparts, characterized by amino acids, lipids, carnitine, and others (e.g., 1α,25-(OH) 2-D). Most studies reported a significant increase in differential metabolites of offspring born to HDP-complicated pregnancies. Four studies ( n = 1109) measured lipids-related metabolites, and all consistently showed that offspring born to PE-complicated pregnancies had significantly higher concentrations than non-PE exposed offspring. Conclusion::The existing evidence suggests an intergenerational effect of HDP on offspring metabolomics. Long-term follow-up studies are needed to advance the health effects of related adverse health outcomes and inform the prevention of offspring’s health.

Vast majority of human RNA are non-coding RNA(ncRNA),which can regulate physiological activities and affects functions on cells.Although each part of them is obscure,they are involved in different levels of gene regulation,from epigene-tic gene silencing to post transcriptional regulation.Metabolic reprogramming of tumor-associated macrophages(TAMs)can promote tumor progression and is closely related to activation phenotypes of anti-tumor(M1)or pro-tumor(M2).A lot of ncRNAs are involved in metabolic reprogramming of TAMs,reshaping tumor microenvironment and playing a key role in tumor progression.Improving understanding of effect on ncRNA regulating metabolic reprogramming of TAMs may provide new methods for developing effective clinical treatments.

Objective:To investigate the differences in hippocampal subfield volumes and structural covariance network properties among patients with mild cognitive impairment (MCI) exhibiting different cognitive outcomes and normal controls (NCs), and to further evaluate the predictive value of these imaging indicators for cognitive deterioration in MCI patients.Methods:A total of 43 NCs, 65 stable MCI (sMCI), and 26 progressive MCI (pMCI) patients enrolled in the Alzheimer′s Disease Neuroimaging Initiative (ADNI) database between December 2012 and May 2016 were included in this study. Baseline demographic information and T 1-weighted magnetic resonance imaging scans were collected. Hippocampal subfield volumes were extracted using freesurfer software, and structural covariance networks of hippocampal subfields were constructed. Multivariate analysis of covariance was used to compare hippocampal subfield volumes among the 3 groups. A general linear model was applied to examine group differences in hippocampal subfield structural covariance network properties. Least absolute shrinkage and selection operator (LASSO)-Logistic regression was employed to identify imaging predictors associated with conversion to Alzheimer′s disease (AD), based on which structural, network-based, and combined predictive models were constructed. Model discrimination was evaluated using the area under the curve (AUC); internal validation was performed using Bootstrap resampling; model calibration was assessed with the Hosmer-Lemeshow test; and clinical utility was evaluated through decision curve analysis. Results:Significant differences in hippocampal subfield volumes (mm3) were observed among the 3 groups (all P<0.05, Bonferroni-corrected). Specifically, left parasubiculum (65.58±13.30, 61.96±17.56, 49.56±11.82, F=9.900), right parasubiculum (65.92±15.21, 59.45±16.65, 47.69±15.48, F=11.612), left presubiculum (277.09±39.85, 258.15±44.86, 224.05±45.05, F=14.513), right presubiculum (262.85±40.43, 247.41±43.27, 209.97±46.11, F=14.500), left subiculum (399.66±32.19, 374.25±55.83, 306.12±51.62, F=32.923), right subiculum (417.93±48.92, 376.59±51.01, 316.82±70.22, F=28.764), left cornu ammonis 1 (CA1) (592.10±83.87, 561.96±94.72, 490.06±86.89, F=13.352), right CA1 (632.15±100.09, 601.24±88.88, 531.05±110.29, F=10.579), left CA3 (191.58±30.08, 180.47±34.66, 155.08±37.82, F=12.182), right CA3 (210.42±28.92, 203.84±34.80, 176.69±41.47, F=9.597), left CA4 (224.61±28.94, 210.49±35.04, 183.98±36.89, F=16.521), right CA4 (238.49±28.14, 227.43±30.65, 200.23±42.74, F=13.702), left granule cell-molecular layer-dentate gyrus (GC-ML-DG) (259.96±36.76, 239.42±41.17, 207.61±41.84, F=19.831), right GC-ML-DG (273.98±35.12, 258.79±36.82, 227.81±49.07, F=14.204), left molecular layer (505.62±66.16, 468.58±75.17, 402.68±75.47, F=22.293), right molecular layer (527.39±72.39, 493.14±70.39, 423.81±88.09, F=19.588), left hippocampal amygdala transition area (HATA) (54.91±9.99, 49.52±9.93, 43.27±9.59, F=13.571), right HATA (58.43±9.83, 54.55±10.80, 47.12±12.54, F=10.037), left fimbria (69.94±25.04, 56.63±23.74, 40.58±19.83, F=14.846), right fimbria (68.61±26.24, 53.95±23.16, 45.25±17.04, F=10.424), left hippocampal tail (488.37±83.44, 463.54±80.33, 393.83±77.73, F=13.570), and right hippocampal tail (519.78±80.22, 498.84±81.68, 419.75±93.29, F=14.339) all showed significant group differences. Significant group differences were also observed in small-worldness metric γ (0.51±0.10, 0.51±0.08, 0.62±0.14, F=9.317), small-worldness metric λ (0.39±0.02, 0.39±0.02, 0.43±0.04, F=9.925), global efficiency (0.19±0.01, 0.20±0.01, 0.18±0.01, F=3.189), local efficiency (0.26±0.02, 0.26±0.01, 0.27±0.01, F=3.068), clustering coefficient (0.23±0.01, 0.23±0.01, 0.24±0.02, F=4.274), and characteristic path length (0.73±0.06, 0.72±0.06, 0.76±0.07, F=4.477) of the hippocampal subfield structural covariance network (all P<0.05). Specifically, the pMCI group exhibited higher γ ( t=3.773, P<0.001), λ ( t=4.060, P<0.001), local efficiency ( t=2.445, P=0.047), and clustering coefficient ( t=2.849, P=0.015) than the NCs group, and higher γ ( t=4.074, P<0.001), λ ( t=4.068, P<0.001), and characteristic path length ( t=2.986, P=0.010) but lower global efficiency ( t=-2.444, P=0.047) than the sMCI group. The AUC of the structural, network, and combined models based on LASSO-Logistic regression was 0.837, 0.861, and 0.899, respectively. After internal validation, the corrected AUC was 0.835, 0.855, and 0.889, respectively. All models demonstrated good calibration ( P>0.05), and decision curve analysis indicated favorable clinical net benefit across models. Conclusions:Both sMCI and pMCI patients exhibit widespread hippocampal subfield atrophy and altered global properties of hippocampal subfield structural covariance networks compared to NCs. The models constructed based on hippocampal subfield volumes and structural covariance networks show strong potential for predicting cognitive decline in MCI patients.

Background Injury poses a serious threat to human health. As global warming continues to intensify, there is an urgent need to explore the impact of temperature changes on injury deaths. However limited research has focused on this issue. Objective To investigate the relationship between daily mean temperature change (Tm) and injury death, as well as to estimate the associated future death burden in Hunan Province. Methods We employed an individual-level, time-stratified case-crossing design to establish a conditional logistic regression model to analyze the exposure-response relationship between daily mean temperature change and injury death in Hunan Province from 2013 to 2018. Consequently, we conducted subgroup analysis of gender, age group, and injury type. Finally, we estimated the excess burden of injury death attributable to temperature changes under a sustainable development path [low emission scenario (SSP1-2.6)], regional competition path [high emission scenario (SSP3-7.0)], or fossil fuel development path [very high emission scenario (SSP5-8.5)]. Results The study collected 155577 injury deaths in Hunan Province. The results indicated that for each 1 ℃ increment in daily mean temperature, the cumulative excess risk (CER) of injury mortality among Hunan residents increased by 0.71% (95%CI: 0.53%, 0.90%). Notably, the CER for intentional injuries (1.06%, 95%CI: 0.51%, 1.61%) was higher than that for unintentional injuries (0.66%, 95%CI: 0.46%, 0.87%). Warmer temperatures were positively associated with CER of mortality due to drowning, falls, transport injuries, assaults, and suicides, while they were negatively associated with mortality due to poisoning. Compared with 2010–2019, for 2090–2099, the excess mortality rate (EMR) due to ambient temperature increase in Hunan Province under the SSP5-8.5 scenario (14.62/100000, 95%CI: 10.81/100000, 18.40/100000) would be higher than that of the SSP3-7.0 scenario (10.28/100000, 95%CI: 7.58/100000, 12.97/100000) and the SSP1-2.6 scenario (3.35/100000, 95%CI: 2.46/100000, 4.23/100000); the EMR would be around 2.5 times among men (20.64/100000, 95%CI: 14.44/100000, 26.8/100000) than that among women (8.33/100000, 95%CI: 3.98/100000, 12.6/100000). Among unintentional injuries, the leading contributors to EMR would be drowning (4.46/100000), falls (3.96/100000), and transport injuries (2.96/100000). And among intentional injuries, the EMR for suicide (2.08/100000) would be higher than that for assault (0.47/100000). Conclusion Climate warming will increase the total burden of injury-related deaths among residents in Hunan Province, especially in the absence of effective mitigation strategies and measures. It is necessary to strengthen the prevention and control of severe injuries closely related to temperature changes, such as drowning, falls, traffic, and suicides injuries, in order to reduce injury deaths associated with climate change.

Objective:To share our experience of single-port transoral Da Vinci robotic surgery for laryngeal and pharyngeal benign tumors.Methods:Three patients aged over 18 years and diagnosed respectively with epiglottic cyst, aryepiglottic fold cyst and thyroglossal duct cyst at tongue base were included who received operations in Hainan Hospital of Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine (Boao Research Hospital of Hainan) between August 1, 2023 and April 10, 2024. There were 1 male and 2 females, with an average age of 59 years old. The clinical diagnosis of these 3 patients was respectively epiglottic cyst, aryepiglottic fold cyst and thyroglossal duct cyst at tongue base. Intraoperative conversion rate, blood loss, operation time, hospital stay, pain score and swallowing function score were analyzed.Results:All three patients successfully underwent the operations with the single-port Da Vinci robotic system. The clean-contaminated resection rate of the tumors was 100%. The conversion rate was nil. The blood loss was 0-7 ml. The operation time was 5-30 minutes. There were no adverse events such as loosening of teeth and soft tissue abrasions of pharyngeal side wall. The rate of oral feeding within 24 hours after surgery was 100%. No postoperative coughing, bleeding, or dyspnea occurred. The average length of hospital stay was 3.7 days. The VAS score decreased 3 days after surgery compared to 1 day after surgery. The swallowing function recovered 1 month after surgery.Conclusion:The single-port transoral robotic surgery for laryngeal and pharyngeal benign lesions is safe and efficient, with fewer complications.

Objective:To compare the effects of different appointment regimens on the daily waiting time, fixedness of treatment time and lateness rate of radiotherapy patients.Methods:Medical records of 5488 radiotherapy from 332 patients on the same linear accelerator in West China Hospital of Sichuan University from March to June 2022 were selected. Based on the radiotherapy information integration platform of MOSAIQ, all patients were randomly assigned to the morning class, afternoon class and evening class. Traditional manual appointment regimen was adopted for the morning class, 30 min appointment regimen for the afternoon class, and 15 min appointment regimen for the evening class, respectively. The differences in patient waiting time for treatment, fixedness of treatment time, and lateness rate under different appointment regimens were compared. The fixedness of treatment time and waiting time was determined by one-way ANOVA, and the 2×3 Chi-square test was adopted for the lateness rate. Results:The waiting time in the 15 min appointment, the 30 min appointment and manual appointment groups were (27.08 ± 17.21), (34.57± 19.12) and (41.50 ±20.94) min, respectively. There was statistical significance among three appointment regimens ( F=254.97, P<0.001). The waiting time was the shortest in the 15 min appointment group, followed by the 30 min appointment group, and the manual appointment group (all P<0.001 for two-group comparison). The fixedness of treatment time in the 15 min appointment, the 30 min appointment and the manual appointment groups were (15.60±7.87), (18.69±8.94) and (24.30±15.10) min, respectively. There was statistical significance among three groups ( F=25.23, P<0.001). Among them, the fixedness of treatment time in the 15 min appointment group was the highest, followed by the 30 min appointment group, and the manual appointment group (all P<0.001). The lateness rates in the 15 min appointment, the 30 min appointment and the manual appointment groups were 5.7%, 6.2% and 9.6%, respectively. The lateness rate in the manual appointment group was higher than those in the 15 min appointment and the 30 min appointment groups ( χ2=19.24、14.90, both P<0.001), but there was no statistical significance in the lateness rate between the 15 min appointment and 30min appointment groups ( χ2=0.39, P=0.535). Conclusion:In the clinical practice of conventional intensity-modulated radiotherapy technology carried out by conventional linear accelerator, the 15 min appointment regimen can shorten the waiting time for radiotherapy and improve the fixedness of daily radiotherapy time, which is worthy of clinical promotion.