BACKGROUND: There is little literature describing the artificial intelligence (AI)-aided diagnosis of severe pneumonia (SP) subphenotypes and the association of the subphenotypes with the ventilatory treatment efficacy. The aim of our study is to illustrate whether clinical and biological heterogeneity, such as ventilation and gas-exchange, exists among patients with SP using chest computed tomography (CT)-based AI-aided latent class analysis (LCA). METHODS: This retrospective study included 413 patients hospitalized at Xinhua Hospital diagnosed with SP from June 1, 2015 to May 30, 2020. AI quantification results of chest CT and their combination with additional clinical variables were used to develop LCA models in an SP population. The optimal subphenotypes were determined though evaluating statistical indicators of all the LCA models, and clinical implications of them such as guiding ventilation strategies were further explored by statistical methods. RESULTS: The two-class LCA model based on AI quantification results of chest CT can describe the biological characteristics of the SP population well and hence yielded the two clinical subphenotypes. Patients with subphenotype-1 had milder infections ( P <0.001) than patients with subphenotype-2 and had lower 30-day ( P <0.001) and 90-day ( P <0.001) mortality, and lower in-hospital ( P = 0.001) and 2-year ( P <0.001) mortality. Patients with subphenotype-1 showed a better match between the percentage of non-infected lung volume (used to quantify ventilation) and oxygen saturation (used to reflect gas exchange), compared with patients with subphenotype-2. There were significant differences in the matching degree of lung ventilation and gas exchange between the two subphenotypes ( P <0.001). Compared with patients with subphenotype-2, those with subphenotype-1 showed a relatively better match between CT-based AI metrics of the non-infected region and oxygenation, and their clinical outcomes were effectively improved after receiving invasive ventilation treatment. CONCLUSIONS A two-class LCA model based on AI quantification results of chest CT in the SP population particularly revealed clinical heterogeneity of lung function. Identifying the degree of match between ventilation and gas-exchange may help guide decisions about assisted ventilation.
Humans ; Tomography, X-Ray Computed/methods* ; Male ; Female ; Retrospective Studies ; Middle Aged ; Artificial Intelligence ; Aged ; Pneumonia/diagnosis* ; Latent Class Analysis ; Adult

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

Objective To observe the clinical efficacy of Fangxiang Wentong Powder(composed of Salviae Miltiorrhizae Radix et Rhizoma,Chuanxiong Rhizoma,Alpiniae Officinarum Rhizoma,Piper Longum,and Corydalis Rhizoma)acupoint application combined with Kuanxiong Aerosol in treating female patients with coronary slow flow(CSF)associated angina.Methods After sample size estimation,119 female inpatients diagnosed as CSF associated angina and differentiated as chest-qi obstruction with yang deficiency and cold accumulation syndrome of traditional Chinese medicine(TCM)were collected from the cardiovascular departments of the Third People's Hospital of Fujian University of Traditional Chinese Medicine,the Second Affiliated Hospital of Guangzhou University of Chinese Medicine(Guangdong Provincial Hospital of Chinese Medicine),Zhanjiang First Traditional Chinese Medicine Hospital,and Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine from November 2023 to March 2024.Using a table of random numbers,the patients were divided into a treatment group(84 cases)and a control group(35 cases)in a ratio of 5∶2.The control group was treated with Isosorbide Monomitrate Sustained-Release Capsules,while the treatment group was treated with application of Fangxiang Wentong Powder on acupoints of Danzhong(CV17),Gaohuang(BL43),and Xinshu(BL15),together with sublingual administration of Kuanxiong Aerosol.The treatment course for both groups covered 7 days.Before and after treatment,the changes in the simplified Seattle Angina Questionnaire(SAQ-7)scores,Chinese Quality of Life Questionnaire for Cardiovascular Patients(CQQC)scores,6-minute walking distance(6MWD),serum C-reactive protein(CRP)level,and white blood cell-to-mean platelet volume ratio(WMR)were observed.The TCM symptom efficacy was compared between the two groups,and adverse reactions were monitored.Results(1)There were 8 patients withdrew in the treatment group for failing in completing the questionnaires,and 2 patients withdrew in the control group for suffering headaches after taking nitrates.Eventually,109 patients completed the trial,including 76 in the treatment group and 33 in the control group.(2)After 7 days of treatment,the total effective rate for TCM symptom efficacy in the treatment group was 86.84%(66/76),and that in the control group was 72.73%(24/33).The intergroup comparison(tested by the chi-square test)showed that the TCM symptom efficacy in the treatment group was significantly superior to that in the control group.(3)After treatment,both groups showed improvements in the scores of activity limitation and angina frequency items of SAQ-7,and the treatment group also showed improvements in the scores of subjective satisfaction item of SAQ-7(P＜0.05).The treatment group's improvements in the scores of activity limitation,angina frequency,and subjective satisfaction items of SAQ-7 were significantly superior to those of the control group(P＜0.05).(4)After treatment,the CQQC scores in the treatment group was significantly improved(P＜0.05),while no significant improvement was observed in the control group(P＞0.05).The improvement of CQQC scores in the treatment group was significantly superior to that in the control group(P＜0.05).(5)After treatment,both groups showed improvements in 6MWD(P＜0.05),and the improvement in the treatment group was significantly superior to that in the control group(P＜0.05).(6)After treatment,the serum levels of inflammatory indicators of CRP and WMR in the treatment group were significantly improved(P＜0.05),while no significant improvements were presented in the control group(P＞0.05).The improvements in serum CRP level and WMR value in the treatment group were significantly superior to those in the control group(P＜0.05).(7)No adverse reactions were found in the treatment group,indicating high safety.Conclusion Fangxiang Wentong Powder acupoint application combined with Kuanxiong Aerosol is more effective than Isosorbide Monomitrate Sustained-Release Capsules,improving exercise tolerance,decreasing inflammatory factor levels,and improving the quality of life to some extent during the treatment of female patients with CSF.

OBJECTIVE: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS). METHODS: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). RESULTS: Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively. 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20, respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites, including c.204_205insTCTC (p.V69fs), c.412G>C (p.G138R), c.431T>G (p.V144G), and c.875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. CONCLUSION Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.
Humans ; Male ; Female ; Glucose Transporter Type 1/deficiency* ; Monosaccharide Transport Proteins/deficiency* ; Child ; Child, Preschool ; Carbohydrate Metabolism, Inborn Errors/genetics* ; Mutation ; Infant ; Pedigree ; Adolescent ; Adult

Objective To quantitatively compare the dosimetric differences among 4 volumetric modulated arc therapy(VMAT)plans by analyzing the number of arcs and collimator angle settings,aiming to establish a standardized planning template for hippocampal-sparing prophylactic cranial irradiation(HS-PCI)in clinic and improve both planning quality and clinical efficiency.Methods Twenty HS-PCI patients were enrolled,with 4 VMAT plans(V2c,V2p,V3,and V4)for each patient.The differences in target dose,organs-at-risk dose,and monitor units were compared.Results V4 plan had the highest PTV D98%and V95%,and the differences of PTV D98%in V2c vs V2p,V2c vs V4,and PTV V95%in V2c vs V4 were statistically significant(P<0.05).Meanwhile,V4 plan had the lowest PTV Dmax and Dmin doses.Specifically,statistically significant differences were observed in PTV Dmax in V4 vs V2c,V4 vs V2p,V4 vs V3,as well as PTV Dmin in V2c vs V2p,V2c vs V3,V2c vs V4,V2p vs V4(P<0.05).The PTV Dmean was the highest in V2p plan,with statistically significant differences observed in V2c vs V2p,V2c vs V4,V2p vs V3,and V3 vs V4(P<0.05).The highest PTV D2%dose was observed in V2p plan,and the differences in V2c vs V2p,V2c vs V4,V2p vs V3,V3 vs V4 were statistically significant(P<0.05).The homogeneity index and conformity index were close in 4 plans(P=0.946,P=0.380).V4 plan had the lowest Dmax,Dmean,and Dmin of the hippocampus,with significant differences in hippocampal Dmax in V4 vs V2c,V4 vs V2p,hippocampal Dmean in V4 vs V2c,V4 vs V2p,V3 vs V2c,and hippocampal Dmin in V2c vs V2p/V3/V4,and V4 vs V2p(P<0.05).V3 plan had the lowest Dmax for bilateral lenses,and V4 plan showed the lowest Dmax for lenses with a 3 mm expansion,with significant differences between V2c and V2p/V3/V4(P<0.05).V4 plan had the lowest dose for the right optic nerve,with significant differences in V4 vs V2p,and V4 vs V3(P<0.05).No significant differences were observed for the left optic nerve and optic chiasm.The monitor units in V2p plan was the lowest.Conclusion When differences in organs-at-risk doses and plan quality parameters are insignificant,V2p plan is recommended as it can ensure treatment quality while reducing delivery time.

Objective To quantitatively compare the dosimetric differences among 4 volumetric modulated arc therapy(VMAT)plans by analyzing the number of arcs and collimator angle settings,aiming to establish a standardized planning template for hippocampal-sparing prophylactic cranial irradiation(HS-PCI)in clinic and improve both planning quality and clinical efficiency.Methods Twenty HS-PCI patients were enrolled,with 4 VMAT plans(V2c,V2p,V3,and V4)for each patient.The differences in target dose,organs-at-risk dose,and monitor units were compared.Results V4 plan had the highest PTV D98%and V95%,and the differences of PTV D98%in V2c vs V2p,V2c vs V4,and PTV V95%in V2c vs V4 were statistically significant(P<0.05).Meanwhile,V4 plan had the lowest PTV Dmax and Dmin doses.Specifically,statistically significant differences were observed in PTV Dmax in V4 vs V2c,V4 vs V2p,V4 vs V3,as well as PTV Dmin in V2c vs V2p,V2c vs V3,V2c vs V4,V2p vs V4(P<0.05).The PTV Dmean was the highest in V2p plan,with statistically significant differences observed in V2c vs V2p,V2c vs V4,V2p vs V3,and V3 vs V4(P<0.05).The highest PTV D2%dose was observed in V2p plan,and the differences in V2c vs V2p,V2c vs V4,V2p vs V3,V3 vs V4 were statistically significant(P<0.05).The homogeneity index and conformity index were close in 4 plans(P=0.946,P=0.380).V4 plan had the lowest Dmax,Dmean,and Dmin of the hippocampus,with significant differences in hippocampal Dmax in V4 vs V2c,V4 vs V2p,hippocampal Dmean in V4 vs V2c,V4 vs V2p,V3 vs V2c,and hippocampal Dmin in V2c vs V2p/V3/V4,and V4 vs V2p(P<0.05).V3 plan had the lowest Dmax for bilateral lenses,and V4 plan showed the lowest Dmax for lenses with a 3 mm expansion,with significant differences between V2c and V2p/V3/V4(P<0.05).V4 plan had the lowest dose for the right optic nerve,with significant differences in V4 vs V2p,and V4 vs V3(P<0.05).No significant differences were observed for the left optic nerve and optic chiasm.The monitor units in V2p plan was the lowest.Conclusion When differences in organs-at-risk doses and plan quality parameters are insignificant,V2p plan is recommended as it can ensure treatment quality while reducing delivery time.

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

Objective To observe the clinical efficacy and safety of external application of Piyan Formula in treating epidermal growth factor receptor tyrosine kinase inhibitor(EGFR-TKIs)-related rashes.Methods Sixty cases of EGFR-TKIs-related rash patients were randomly allocated into either a treatment group or a control group.The treatment group received external application of Piyan Formula to the rash area twice daily for 14 days.The control group received external application of fucidic acid cream to the rash area twice daily for 14 days.Changes in rash grading,itching grading,quality of life scores and adverse event were observed and recorded in both groups.At the same time,levels of hypersensitive C-reactive protein,interleukin(IL)-6,and IL-1β were measured before treatment and 24 hours after treatment.Results After treatment,the rash severity,itching severity,and quality of life scores were notably lower in the treatment group compared to the control group(P<0.05).The levels of hypersensitive C-reactive protein,IL-6,and IL-1β exhibited a significant decrease compared to their pre-treatment values.(P<0.05).Compared with the control group,the levels of hypersensitive C-reactive protein,IL-6,and IL-1β decreased in the treatment group,with statistically significant differences(P<0.05).No adverse events related to Piyan Formula or fucidic acid cream occurred during the treatment process.Conclusion External application of Piyan Formula in treating EGFR-TKIs-related rashes shows significant clinical efficacy,can effectively reduce the levels of inflammatory factors,and has high safety,thus warranting clinical promotion.

BACKGROUND:The assessment of asymmetric gait quality plays a pivotal role in guiding rehabilitation training;however,the link between gait quality and kinematic-kinetic gait parameters remains ambiguous. OBJECTIVE:To formulate a machine-learning model for evaluating gait quality based on gait parameters,identify factors sensitive to gait quality from asymmetric gait parameters,investigate the relationship between gait indicators and gait quality,and provide guidance for asymmetric gait training and rehabilitation. METHODS:An asymmetric gait database was established through the creation of asymmetric conditions.Kinematic and kinetic data were collected from 8 young and 8 elderly subjects(all male,right dominant population)during gait tests.Gait quality for each test data set was assessed using symmetry indices,resulting in the creation of a gait parameter-gait quality dataset.Utilizing the Random Forest algorithm,a gait quality evaluation model was developed and key quality parameter factors were identified through differential analysis.This model was iteratively refined.The model's performance was evaluated through 10-fold cross-validation,and its effectiveness was verified using the cross-validation dataset. RESULTS AND CONCLUSION:(1)A gradient test was designed to categorize gait quality into optimal,suboptimal,intermediate,and poor groups,with 759,329,133,and 125 instances,respectively.(2)The application of the Random Forest algorithm in gait quality assessment was explored.A relationship model was established between gait indicators and gait quality,yielding a predictive model accuracy of 95.99%.(3)The 13 main parameters significantly influencing asymmetric gait quality were identified through the Random Forest model's feature importance ranking.(4)An analysis of gait quality sensitivity factors using the 13 important parameters led to the identification of five key sensitivity indexes.The Random Forest model utilizing these sensitivity factors achieved a predictive accuracy of 94.20%.

CT simulator has the functions such as original coordination positioning and radiotherapy resetting,and it can provide image and cooridiate information for radiotherapy.Through electronic density calibration,tissue inhomogeneity correction is carried out for supporting dose calculation in treatment planning system.With reference to relevant national standards,international guidelines,clinical functions of CT simulator and the practical experience of the center,a set of acceptance and commissioning testing scheme suitable for big bore CT simulator is presented,aiming to guide and assist the newly opened department in conducting comprehensive,safe and feasible acceptance and commissioning tests.The scheme includes the reference methods and tolerance standards of CT simulator machinery,image quality,radiation dose,radiotherapy related items and safety,so as to ensure the safety and accuracy of CT simulation and survival benefits.