Objective:To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China.Methods:A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried out for neonates suspected for Citrin deficiency by next-generation sequencing. The clinical, biochemical and genetic characteristics of Citrin deficiency patients were integrated to guide the diet treatment and follow up the growth and development. Paired- t test was used to compare the amino acid levels in the peripheral blood samples before and after the treatment. Results:Nine cases of Citrin deficiency were diagnosed among the 986 565 neonates. Specific elevation of citrulline was observed in all of the 9 cases. Six variants were detected by genetic sequencing, among which c. 852_855delTATG, c. 615+ 5G>A, c. 550C>T and IVS16ins3kb were known pathogenic variants, whilst c. 1111_1112delAT and c. 837T>A were unreported previously. The detection rate for c. 852_855delTATG was the highest (61.6%, 11/18), followed by IVS16ins3kb (16.7%, 3/18). The clinical symptoms of all patients were relieved after the treatment, and the blood amino acid profile and biochemical parameters were significantly improved by gradually falling within the normal range. By June 2022, all patients had shown a good prognosis.Conclusion:The prevalence of Citrin deficiency among neonates from Henan Province by tandem mass spectrometry is 1/109 618, and the carrier rate for the pathogenic variants of the SLC25A13 gene was 1/166. The c. 852_855delTATG may be a hot spot variant among the patients. Discovery of the novel variants has enriched the mutational spectrum of the SLC25A13 gene. Above results have provided a basis for the early diagnosis, treatment, prognosis and genetic counseling for the affected families.

Purpose/Significance To analyze the current situation and problems of the development of digital health in China,and to explore how to promote the innovative development of digital health.Method/Process The current situation and main problems of digital health are studied and analyzed by the method of literature research and network survey,and the paths of the innovative development of digital health are devised based on case analysis.Result/Conclusion Digital technology has become the key to breaking down multiple barriers to digital health development.The paper puts forward the specific path of"sharing and cooperative governance platform-indus-trial security system-intelligent supervision mechanism"and the digital technology-based countermeasures to promote innovative devel-opment of the industry.

Objective:To explore the factors associated with vascular luminal dilatational remodeling (VLDR) following balloon angioplasty for intracranial atherosclerotic stenosis (ICAS).Methods:A case-control study was conducted to analyze the data of symptomatic severe ICAS patients who received either paclitaxel-coated balloon angioplasty (PCBA) or plain balloon angioplasty (POBA) at our center from January 2019 to January 2022 and completed the six-month follow-up. The patients were divided into VLDR group and non-VLDR group according to whether VLDR occurred on follow-up digital subtraction angiography (DSA). The baseline data, preoperative and postoperative lesion characteristics (DSA), and perioperative related information were collected. The definition of VLDR was a decrease in luminal stenosis rate by more than 10% at the time of follow-up compared to the immediate postoperative period. Multivariate logistic regression was performed to analyze possible factors affecting VLDR such as balloon type, balloon length, and expansion time.Results:A total of 88 patients were included in this study, with 16 in the VLDR group and 72 in the non-VLDR group. The follow-up time for all included patients was 6.00 (5.00, 7.00) months. VLDR occurred in 18.2% (16/88) of cases, with a VLDR incidence of 30.4% (14/46) after PCBA and 4.8% (2/42) after POBA. Univariate logistic regression analysis revealed that treatment balloon type, balloon length, inflated time, immediate postoperative stenosis rate, follow-up time and Mori classification may affect the occurrence of VLDR. Multivariate logistic regression analysis showed that the use of paclitaxel-coated balloon (PCB) ( OR=9.82, 95% CI 1.99-48.49, P=0.005) and postoperative immediate stenosis rate ( OR=1.07, 95% CI 1.00-1.14, P=0.042) were independently associated with VLDR. Conclusion:The occurrence of VLDR following balloon angioplasty in ICAS was associated with the use of PCB and immediate postoperative stenosis rates, which will provide guidance for the clinical application of PCB.

Objective:To survey the quality of medical care and management for chronic obstructive pulmonary disease (COPD) in Shanghai community health service centers.Methods:A questionnaire survey on the institutional capacity for COPD care was conducted among 248 community health service centers in Shanghai from October to November 2023; the contents of self-designed questionnaire included the equipment, drugs, technical support, information exchange and management of COPD in the institutions. At the same time, a questionnaire survey on the knowledge and skill of COPD care was also conducted among half of all physicians selected by stratified sampling from half of the institutions selected by the random cluster sampling, including the knowledge about early screening, diagnosis, treatment and management of COPD, and related training needs .Results:(1)Survey results showed that the most common equipment for diagnosis and treatment of COPD available in community health centers was pulse oxygen saturation detector (97.6%, 242/248), X-ray radiography (96.8%, 240/248) and nebulizer (96.0%, 238/248), The availability of 6-min walking test system, non-invasive ventilator and rehabilitation training instrument in urban community health service centers was higher than that in rural ones ( P<0.05). The availability rates of common COPD drugs in community health service centers were theophylline (91.5%, 227/248), oral glucocorticoid (85.9%, 213/248), intravenous glucocorticoid (81.0%, 201/248), the availability of oral and intravenous glucocorticoids in urban community health service centers was higher than that in rural ones ( P<0.05). The availability rates of COPD diagnosis and treatment techniques were 95.6% (213/248) for pulmonary function test, 93.5% (232/248) for pulse oxygen saturation test, and 53.2% (132/248) for non-invasive respiratory therapy. The availability rate of pulmonary function test, blood gas analysis, non-invasive ventilation and rehabilitation in urban centers was higher than that in rural centers ( P<0.05). Early screening of COPD was conducted in 85.1% (211/248) of community health service centers, the health record system and referral system were established in 66.5% (165/248) and 62.9% (156/248) of centers, respectively; and the establishment of outpatient and referral channels for respiratory diseases in urban areas was higher than that in rural areas ( P<0.05). (2)A total of 1 873 community doctors, aged(38.9±7.8)years and with (15.5±9.1)years of working experience, participated in the COPD knowledge and skill survey. The survey showed that 79.3% participants (1 485/1 873) knew the concept of COPD, 52.6% (986/1 873) mastered the diagnostic criteria, 41.6% (779/1 873) knew the risk factors and 15.5% (291/1 873) mastered the application of glucocorticoids. More than 79% of the community doctors showed the needs for training of knowledge, skills, rehabilitation of COPD and the performance of pulmonary function tests. Conclusion:Availability of COPD diagnosis and treatment equipment in community health center in Shanghai is different, and the availability of basic diagnosis and treatment equipment and drugs is better. The knowledge, skills and management of COPD need to be improved for community doctors, particularly in clinical application of pulmonary function test and active case finding.

OBJECTIVE: To investigate the prevalence, risk factors, duration and outcome of delirium in intensive care unit (ICU) patients. METHODS: A prospective observational study was conducted for critically ill patients admitted to the department of critical care medicine, the Affiliated Hospital of Guizhou Medical University from September to November 2021. Delirium assessments were performed twice daily using the Richmond agitation-sedation scale (RASS) and confusion assessment method of ICU (CAM-ICU) for patients who met the inclusions and exclusion criteria. Patient's age, gender, body mass index (BMI), underlying disease, acute physiologic assessment and chronic health evaluation (APACHE) at ICU admission, sequential organ failure assessment (SOFA) at ICU admission, oxygenation index (PaO₂/FiO₂), diagnosis, type of delirium, duration of delirium, outcome, etc. were recorded. Patients were divided into delirium and non-delirium groups according to whether delirium occurred during the study period. The clinical characteristics of the patients in the two groups were compared, and risk factors for the development of delirium were screened using univariate analysis and multivariate Logistic regression analysis. RESULTS: A total of 347 ICU patients were included, and delirium occurred in 57.6% (200/347) patients. The most common type was hypoactive delirium (73.0% of the total). Univariate analysis showed statistically significant differences in age, APACHE score and SOFA score at ICU admission, history of smoking, hypertension, history of cerebral infarction, immunosuppression, neurological disease, sepsis, shock, glucose (Glu), PaO₂/FiO₂ at ICU admission, length of ICU stay, and duration of mechanical ventilation between the two groups. Multivariate Logistic regression analysis showed that age [odds ratio (OR) = 1.045, 95% confidence interval (95%CI) was 1.027-1.063, P < 0.001], APACHE score at ICU admission (OR = 1.049, 95%CI was 1.008-1.091, P = 0.018), neurological disease (OR = 5.275, 95%CI was 1.825-15.248, P = 0.002), sepsis (OR = 1.941, 95%CI was 1.117-3.374, P = 0.019), and duration of mechanical ventilation (OR = 1.005, 95%CI was 1.001-1.009, P = 0.012) were all independent risk factors for the development of delirium in ICU patients. The median duration of delirium in ICU patients was 2 (1, 3) days. Delirium was still present in 52% patients when they discharged from the ICU. CONCLUSIONS The prevalence of delirium in ICU patients is over 50%, with hypoactive delirium being the most common. Age, APACHE score at ICU admission, neurological disease, sepsis and duration of mechanical ventilation were all independent risk factors for the development of delirium in ICU patients. More than half of patients with delirium were still delirious when they discharged from the ICU.
Humans ; Prevalence ; Critical Care ; Risk Factors ; Sepsis ; Intensive Care Units

Objective:To analyze the factors influencing pulmonary infections in elderly neurocritical patients in the intensive care unit (ICU) and to explore the predictive value of risk factors for pulmonary infections.Methods:The clinical data of 713 elderly neurocritical patients [age ≥ 65 years, Glasgow coma score (GCS) ≤ 12 points] admitted to the department of critical care medicine of the Affiliated Hospital of Guizhou Medical University from 1 January 2016 to 31 December 2019 were retrospectively analyzed. According to whether or not they had HAP, the elderly neurocritical patients were divided into hospital-acquired pneumonia (HAP) group and non-HAP group. The differences in baseline data, medication and treatment, and outcome indicators between the two groups were compared. Logistic regression analysis was used to analyze the factors influencing the occurrence of pulmonary infection.The receiver operator characteristic curve (ROC curve) was plotted for risk factors and a predictive model was constructed to evaluate the predictive value for pulmonary infection.Results:A total of 341 patients were enrolled in the analysis, including 164 non-HAP patients and 177 HAP patients. The incidence of HAP was 51.91%. According to univariate analysis, compared with the non-HAP group, mechanical ventilation time, the length of ICU stay and total hospitalization in the HAP group were significantly longer [mechanical ventilation time (hours): 171.00 (95.00, 273.00) vs. 60.17 (24.50, 120.75), the length of ICU stay (hours): 263.50 (160.00, 409.00) vs. 114.00 (77.05, 187.50), total hospitalization (days): 29.00 (13.50, 39.50) vs. 27.00 (11.00, 29.50), all P < 0.01], the proportion of open airway, diabetes, proton pump inhibitor (PPI), sedative, blood transfusion, glucocorticoids, and GCS ≤ 8 points were significantly increased than those in HAP group [open airway: 95.5% vs. 71.3%, diabetes: 42.9% vs. 21.3%, PPI: 76.3% vs. 63.4%, sedative: 93.8% vs. 78.7%, blood transfusion: 57.1% vs. 29.9%, glucocorticoids: 19.2% vs. 4.3%, GCS ≤ 8 points: 83.6% vs. 57.9%, all P < 0.05], prealbumin (PA) and lymphocyte count (LYM) decreased significantly [PA (g/L): 125.28±47.46 vs. 158.57±54.12, LYM (×10 9/L): 0.79 (0.52, 1.23) vs. 1.05 (0.66, 1.57), both P < 0.01]. Logistic regression analysis showed that open airway, diabetes, blood transfusion, glucocorticoids and GCS ≤ 8 points were independent risk factors for pulmonary infection in elderly neurocritical patients [open airway: odds ratio ( OR) = 6.522, 95% confidence interval (95% CI) was 2.369-17.961; diabetes: OR = 3.917, 95% CI was 2.099-7.309; blood transfusion: OR = 2.730, 95% CI was 1.526-4.883; glucocorticoids: OR = 6.609, 95% CI was 2.273-19.215; GCS ≤ 8 points: OR = 4.191, 95% CI was 2.198-7.991, all P < 0.01], and LYM, PA were the protective factors for pulmonary infection in elderly neurocritical patients (LYM: OR = 0.508, 95% CI was 0.345-0.748; PA: OR = 0.988, 95% CI was 0.982-0.994, both P < 0.01). ROC curve analysis showed that the area under the ROC curve (AUC) for predicting HAP using the above risk factors was 0.812 (95% CI was 0.767-0.857, P < 0.001), with a sensitivity of 72.3% and a specificity of 78.7%. Conclusions:Open airway, diabetes, glucocorticoids, blood transfusion, GCS ≤ 8 points are independent risk factors for pulmonary infection in elderly neurocritical patients. The prediction model constructed by the above mentioned risk factors has certain predictive value for the occurrence of pulmonary infection in elderly neurocritical patients.

Objective:To evaluate the performance of an artificial intelligent (AI)-based automated digital cell morphology analyzer (hereinafter referred as AI morphology analyzer) in detecting peripheral white blood cells (WBCs).Methods:A multi-center study. 1. A total of 3010 venous blood samples were collected from 11 tertiary hospitals nationwide, and 14 types of WBCs were analyzed with the AI morphology analyzers. The pre-classification results were compared with the post-classification results reviewed by senior morphological experts in evaluate the accuracy, sensitivity, specificity, and agreement of the AI morphology analyzers on the WBC pre-classification. 2. 400 blood samples (no less than 50% of the samples with abnormal WBCs after pre-classification and manual review) were selected from 3 010 samples, and the morphologists conducted manual microscopic examinations to differentiate different types of WBCs. The correlation between the post-classification and the manual microscopic examination results was analyzed. 3. Blood samples of patients diagnosed with lymphoma, acute lymphoblastic leukemia, acute myeloid leukemia, myelodysplastic syndrome, or myeloproliferative neoplasms were selected from the 3 010 blood samples. The performance of the AI morphology analyzers in these five hematological malignancies was evaluated by comparing the pre-classification and post-classification results. Cohen′s kappa test was used to analyze the consistency of WBC pre-classification and expert audit results, and Passing-Bablock regression analysis was used for comparison test, and accuracy, sensitivity, specificity, and agreement were calculated according to the formula.Results:1. AI morphology analyzers can pre-classify 14 types of WBCs and nucleated red blood cells. Compared with the post-classification results reviewed by senior morphological experts, the pre-classification accuracy of total WBCs reached 97.97%, of which the pre-classification accuracies of normal WBCs and abnormal WBCs were more than 96% and 87%, respectively. 2. The post-classification results reviewed by senior morphological experts correlated well with the manual differential results for all types of WBCs and nucleated red blood cells (neutrophils, lymphocytes, monocytes, eosinophils, basophils, immature granulocytes, blast cells, nucleated erythrocytes and malignant cells r>0.90 respectively, reactive lymphocytes r=0.85). With reference, the positive smear of abnormal cell types defined by The International Consensus Group for Hematology, the AI morphology analyzer has the similar screening ability for abnormal WBC samples as the manual microscopic examination. 3. For the blood samples with malignant hematologic diseases, the AI morphology analyzers showed accuracies higher than 84% on blast cells pre-classification, and the sensitivities were higher than 94%. In acute myeloid leukemia, the sensitivity of abnormal promyelocytes pre-classification exceeded 95%. Conclusion:The AI morphology analyzer showed high pre-classification accuracies and sensitivities on all types of leukocytes in peripheral blood when comparing with the post-classification results reviewed by experts. The post-classification results also showed a good correlation with the manual differential results. The AI morphology analyzer provides an efficient adjunctive white blood cell detection method for screening malignant hematological diseases.

Objective:To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology.Methods:This was a retrospectively study. Newborn screening data ( n=5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data ( n=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates. The validity of the artificial intelligence disease risk prediction model was verified by 360 814 newborns ' screening data from January 2018 to September 2018 through a single-blind experiment. The effectiveness of the artificial intelligence disease risk prediction model was verified by comparing the detection rate of clinically confirmed cases, the positive rate of initial screening and the positive predictive value between the clinicians and the artificial intelligence prediction model of inherited metabolic diseases. Results:A total of 3 665 697 newborns ' screening data were collected including 3 019 cases ' positive data to establish the 16 artificial intelligence models for 32 inherited metabolic diseases. The single-blind experiment ( n=360 814) showed that 45 clinically diagnosed infants were detected by both artificial intelligence model and clinicians. A total of 2 684 cases were positive in tandem mass spectrometry screening and 1 694 cases were with high risk in artificial intelligence prediction model of inherited metabolic diseases, with the positive rates of tandem 0.74% (2 684/360 814)and 0.46% (1 694/360 814), respectively. Compared to clinicians, the positive rate of newborns was reduced by 36.89% (990/2 684) after the application of the artificial intelligence model, and the positive predictive values of clinicians and artificial intelligence prediction model of inherited metabolic diseases were 1.68% (45/2 684) and 2.66% (45/1 694) respectively. Conclusion:An accurate, fast, and the lower false positive rate auxiliary diagnosis system for neonatal inherited metabolic diseases by artificial intelligence technology has been established, which may have an important clinical value.

Objective:To analyze the variation and characteristics of gene mutation in patients with 6-pyruvoyltetrahydropterin synthase deficiency(PTPSD) in Henan province, and to provide the theoretical basis for early diagnosis, treatment, genetic consultation and prenatal diagnosis of PTPSD.Methods:One thousand nine hundred and six children with hyperphenylalaninemia (HPA) treated in Henan Neonatal Screening Center, the Third Affiliated Hospital of Zhengzhou University from January 1998 to December 2018 were included.Chemiluminescence was used for pheny-lalanine (Phe) detection in blood or dried blood spots.For patients with Phe concentration >120 μmol/L, urine pterin analysis was carried out, and the activity of dihydropteridine reductase (DHPR) was detected.Mutations of the PAH, GCH1, GFRP, PCBD1, PTPS and QDPR in 79 children with tetrahydrobiopterin deficiency(BH4D) were detected by using the high-throughput sequencing.All variations were verified by Sanger sequencing. Results:Among the 1 906 children, 79 cases were diagnosed as BH4D clinically, and they all were PTPSD.The incidence of PTPSD in HPA in Henan was 4.14%.One hundred and fifty-six out of 158 alleles in 79 children were detected, and the detection rate of gene mutation was 98.73%, 30 mutations were identified and most of the variants were located in exons 5(92/156 cases, 58.97%). Variants of c. 259C>T (61/156 cases, 39.10%), c.286G>A (17/156 cases, 10.90%), c.155A>G (13/156 cases, 8.33%) and c. 272A > G (10/156 cases, 6.41%) were more common.Six novel variations were detected, which included c. -77G>T, c.158A>G, c.262C>T, c.207G>A, c.316A>G and c. 332C>G; 38 genotypes had been identified, including 3 homozygous mutations and 33 compound heterozygous mutations.Conclusions:c. 259C>T is the hot-spots gene mutation in Chinese PTPSD patients in Henan province.The identification of 6 new mutations enriches the gene mutation profile.

To evaluate the value and clinical effect of different preoperative localization techniques for solitary pulmonary nodules (SPN) before single-port thoracoscopic surgery.From January 2018 to June 2019, 54 patients diagnosed with solitary pulmonary nodules received single-port thoracoscopic surgery in Thoracic Department of General Hospital of Southern Theater Command of PLA. Based on the location methods of the nodules, the patients were divided into group A (34 cases) with preoperative CT-guided Hook-wire (a common positioning needle usually using in mammary gland) positioning and group B (20 cases) with preoperative CT-guided methylene blue location.The success rate of localization in group A was 94.18% (32/34), significantly higher than that in group B [85% (17/20), < 0.05). No intraoperative conversion to thoracotomy occurred in group A, while the conversion rate was 10% (2/20) in group B ( < 0.05). The average positioning cost was significantly higher in group A than in group B (1715±109 1021±86 RMB yuan, < 0.05), but the total hospitalization cost was similar between the two groups (50 114±3788 47871±5902 RMB yuan, >0.05). The length of hospital stay was significantly shorter in group A than in group B (6.71±1.23 8.19±2.61 days, < 0.05).Compared with the traditional methylene blue localization method, Hook-wire localization positioning can significantly increase the success rate of localization, and can be used as the standard preoperative localization method in patients undergoing single-port thoracoscopic pulmonary nodule resection, especially in those with deep nodule location from the visceral pleura.
Humans ; Lung Neoplasms ; Preoperative Care ; Solitary Pulmonary Nodule ; Thoracic Surgery, Video-Assisted ; Tomography, X-Ray Computed