1.Ameliorative effect and mechanism of Forsythia suspensa-Lonicera japonica herb pair on acute lung injury via regulating serum exosomal miRNA
Zhaohua CHEN ; Shumin XIE ; Wanshun CHANG ; Yuqing HAN ; Yanwen CHEN ; Yanhui ZHU ; Mingzhuo CAO ; Haiying HUANG
China Pharmacy 2026;37(3):305-310
OBJECTIVE To study the ameliorative effect and mechanism of Forsythia suspensa-Lonicera japonica herb pair on acute lung injury (ALI) based on serum exosomal microRNA (miRNA). METHODS The rats were randomly divided into a blank group (normal saline), model group (nomal saline), and F. suspensa-L. japonica herb pair group (2.55 g/kg), with 10 rats in each group. Except for the blank group, the other groups were used to establish an ALI model by intratracheal dripping of 5 mg/ mL lipopolysaccharides. After modeling, each group was given relevant medicine/normal saline intragastrically, once a day, for 3 consecutive days. After the last medication, the pathological status of lung tissue was observed; lung wet-to-dry weight ratio and leukocyte counts in bronchoalveolar lavage fluid (BALF) were determined. The levels of inflammatory factors [tumor necrosis factor-α(TNF-α), interleukin-1β (IL-1β), IL-10] in BALF were determined. Exosomes were isolated from rat serum, and high- throughput sequencing technology was employed to screen differentially expressed miRNA within the exosomes, followed by Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Based on the screened differentially expressed miRNA and the enriched KEGG pathways, in vitro cellular experiments were conducted for validation. RESULTS The animal experimental results demonstrated that after intervention with the F. suspensa-L. japonica herb pair, the wet-to-dry weight ratio, the number of leukocytes in BALF, as well as the levels of TNF-α and IL-1β in BALF of ALI rats were all significantly reduced (P<0.01), while the level of IL-10 was significantly increased (P<0.01). The results of high-throughput sequencing experiments revealed that the F. suspensa-L. japonica herb pair could significantly up-regulate the expressions of miR-345-3p, miR-194-5p, miR-653-5p, and others in exosomes. Among them, the KEGG pathways involved in the target genes of differentially expressed miRNA included the hypoxia-inducible factor-1(HIF-1) signaling pathway, among others. The results of cellular E-mail:huang.haiying@126.com validation experiments showed that overexpressed miR-345-3p could significantly elevate the level of IL-10 in the cell supernatant (P<0.01), while significantly reducing the levels of TNF-α and IL-1β in the cell supernatant, as well as the mRNA and protein expression levels of protein kinase B1, phosphatidylinositol 3- kinase, and HIF-1α (P<0.01). CONCLUSIONS F. suspensa-L. japonica herb pair can alleviate inflammatory responses and thereby exert a therapeutic effect in improving ALI by up-regulating the expression of miR-345-3p in serum exosomes and inhibiting the activity of the HIF-1 signaling pathway.
2.Monitoring results of mosquito-ovitraps placed in different orientations in multi-storey residential areas
Caixiong LIU ; Bin GE ; Haibing ZHANG ; Lin WANG ; Tao YANG ; Yujiao WEI ; Haiying XIE ; Yu ZHANG ; Hongxia LIU ; Juntao SHEN
Shanghai Journal of Preventive Medicine 2025;37(2):109-113
ObjectiveTo find out whether there is any difference in the monitoring results of mosq-ovitraps placed in different orientations in multi-storey residential areas, so as to provide a scientific basis for routine and emergency monitoring of Aedes albopictus with mosq-ovitraps in residential areas. MethodsFrom July 6th to October 26th 2023, one mosquito ovitrap was set up in each of the 4 orientations of east, south, west and north around the buildings in a multi-storey residential area in Jinhui Town, Fengxian District, Shanghai. Data was collected and recorded 72 hours after placement. The chi-square test was used to compare the mosquito ovitrap indices (MOIs) of two independent samples, and the Kruskal⁃Wallis H test was used to compare the MOIs of multiple independent samples. ResultsAfter 16 weeks of surveillance, 997 mosquito ovitraps were recovered, of which 211 were positive, with the mosquito ovitrap index (MOI) of 21.16% and the Aedes albopictus density index of 1.03 mosquitoes·ovitrap-1. The MOIs were higher in September (24.22%) and October (23.96%), and the MOIs in the west, south and north within the two months were all above 20.00%. From July to October, the MOIs in the east, west, south and north were 20.70%, 22.20%, 25.50% and 16.20%, respectively, and the difference in MOIs among the 4 orientations was not statistically significant (χ2=6.647, P=0.084). Stratified analysis by month showed that in August, the south side of the multi-storey residential areas had the highest MOI (31.30%), the north side had the lowest MOI (1.30%), and there was a statistically significant difference in MOI in the east, west, south and north (χ2=25.986, P<0.001). In October, the MOI in the west was the highest (33.30%) and the MOI in the east was the lowest (6.30%), the difference in MOIs of the 4 orientations was statistically significant (χ2=12.007, P=0.007). The MOIs in the south side of the building in the outskirts of the residential area from the 1st week in July to the 4th week in October was lower (19.20%) than that in the south side of the inner building (31.70%), and the difference in MOI was statistically significant (χ2=5.118, P=0.024). ConclusionThe study of MOI in different orientations in a multi-storey residential area is a preliminary exploration based on field work, and the results show that there is a difference in MOIs in different orientations during the peak breeding period of mosquitoes. Further indicators such as temperature, humidity and wind speed in different orientations can be collected to explore the influencing factors of MOIs.
3.A multicenter retrospective study on the clinicopathological features, genetic variant profiles and prognosis of patients with previously untreated Diffuse large B-cell lymphoma.
Yongning JIANG ; Jie ZHANG ; Yaping ZHANG ; Yi XIA ; Yi MIAO ; Haiwen NI ; Jinning SHI ; Xiaohui ZHANG ; Min XU ; Haiying HUA ; Yun ZHUANG ; Wenzhong WU ; Maozhong XU ; Xiaoyan XIE ; Zhuxia JIA ; Yuqing MIAO ; Min ZHAO ; Jianyong LI ; Wenyu SHI
Chinese Journal of Medical Genetics 2025;42(9):1069-1077
OBJECTIVE:
To explore the impact of age on the genetic variant spectrum and prognosis of patients with previously untreated Diffuse large B-cell lymphoma (DLBCL).
METHODS:
A retrospective analysis was conducted on the clinical data and follow-up information of 254 previously untreated DLBCL patients from 14 hospitals in the Jiangsu Cooperative Lymphoma Group (JCLG) enrolled from July 2018 and July 2023. Following extraction of DNA from tumor tissue samples, next-generation sequencing (NGS) technique was employed to analyze the genetic variant spectrum of the DLBCL patients, with an evaluation of the relationship between age and genetic variants as well as prognosis. This study was approved by the Medical Ethics Committee of the Affiliated Hospital of Nantong University (Ethics No.: 2023-K048-01).
RESULTS:
The median age of the 254 DLBCL patients was 62 years old, with 55% of patients aged 60 years or above. Clinical evaluation showed that younger (< 60 years) patients had higher complete response (CR) (70% vs. 59%), and objective response rate (ORR) (88% vs. 79%) than older patients, though the difference between the two groups was not statistically. Survival analysis indicated that both the five-year overall survival (OS) (82.7% vs. 71.7%, P = 0.006) and progression-free survival (PFS) (70.6% vs. 50.2%, P < 0.05) rates were significantly higher in younger patients. NGS showed that 99.6% of the patients harbored genetic variants, with PIM1, KMT2D, TP53, MYD88, and CD79B being the most common genes. Age significantly affected the variant frequency of certain genes, with MYC variants serving an adverse prognostic factor for OS in younger patients (P = 0.002), while TP53 (P = 0.024) and BCL2 (P = 0.002) variants significantly impacted OS in older patients. Prognostic analysis identified age ≥ 60 years (HR = 3.439, 95%CI: 1.318~9.874), presence of B symptoms (HR = 2.871, 95%CI = 1.133~7.307), and elevated lactate dehydrogenase (HR = 3.528, 95%CI = 1.231~10.66) as independent adverse prognostic factors.
CONCLUSION
Age, genetic variants, and clinical factors may significantly affect the prognosis of the DLBCL patients. Younger patients have better survival compared to older patients. Variants of the MYC, BCL2, and TP53 genes are closely associated with poor prognosis.
Humans
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Lymphoma, Large B-Cell, Diffuse/diagnosis*
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Middle Aged
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Female
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Male
;
Retrospective Studies
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Aged
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Prognosis
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Adult
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Aged, 80 and over
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High-Throughput Nucleotide Sequencing
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Young Adult
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Adolescent
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Genetic Variation
4.Investigation of Mechanism of Qingqiao and Laoqiao on Acute Lung Injury Rats Based on Serum Metabolomics
Kang LI ; Tiantian LYU ; Rongqia CUI ; Shumin XIE ; Shujie GUO ; Wanshun CHANG ; Zhaohua CHEN ; Yanhui ZHU ; Mingsan MIAO ; Haiying HUANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(18):89-97
ObjectiveSerum metabolomics of acute lung injury(ALI) in rats was conducted using ultra-performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS) to explore the similarities and differences in the mechanism of Qingqiao(harvested when the fruits of Forsythiae Fructus were initially ripe and still green in color) and Laoqiao(harvested when the fruits of Forsythiae Fructus were ripe) in the treatment of ALI. MethodA total of 24 SD male rats were acclimatized and fed for 1 week, 6 of them were randomly selected for the blank group and 18 for the experimental group. The ALI model was induced in the experimental group by tracheal intubation with lipopolysaccharide(LPS). After successfully constructing the ALI model, these rats was randomly divided into model group, Qingqiao group and Laoqiao group, with 6 rats in each group. The Qingqiao and Laoqiao groups were administered orally once a day at a dose of 1.5 g·kg-1, while the blank and model groups received an equivalent volume of saline for 3 consecutive days. The pathological conditions of rat lung tissues were comprehensively assessed by hematoxylin-eosin(HE) staining, wet-to-dry mass ratio(W/D) of lung tissues, and protein concentration in rat bronchoalveolar lavage fluid(BALF). The levels of interleukin(IL)-6, IL-1β and tumor necrosis factor(TNF)-α in BALF were quantified using enzyme-linked immunosorbent assay(ELISA). UPLC-Q-TOF-MS was used to identify and analyze the chemical compositions of Qingqiao and Laoqiao, and serum metabolomics of rats in each group was analyzed, combined with multivariate statistical analysis with variable importance in the projection(VIP) value>1, P<0.05 from t-test, and fold change(FC)≥1.5 or FC≤0.5 to screen the differential metabolites Qingqiao and Laoqiao for the treatment of ALI. The Kyoto Encyclopedia of Genes and Genomes(KEGG) database was used in combination with MetaboAnalyst for the metabolic pathway analysis of the screened differential metabolites. ResultCompared with the blank group, rats in the model group exhibited enlarged alveolar lumen, ruptured alveoli, interstitial hemorrhage, bronchial exudation of a large number of neutrophils and erythrocytes, and a significant increase in the protein concentration in the BALF and the W/D value of the lung tissues(P<0.01). In contrast, compared with the model group, rats in the Qingqiao group and the Laoqiao group showed reduced bronchial hemorrhage in the lungs, and the protein concentration in the BALF and the W/D value of the lung tissues were significantly decreased(P<0.01), the lung injury was significantly alleviated, but more obvious in the Qingqiao group. Compared with the blank group, the expression levels of IL-6, IL-1β and TNF-α in the BALF of the model group were significantly higher(P<0.01). Additionally, compared with the model group, the expression levels of IL-6, IL-1β and TNF-α in the Qingqiao and Laoqiao groups were significantly lower(P<0.01). The chemical composition analysis of Qingqiao and Laoqiao revealed that 63 components were detected in Qingqiao and 55 components were detected in Laoqiao, with 47 common components, 16 components unique to Qingqiao and 8 components unique to Laoqiao. Characterizing the differences in serum metabolomics in rats, 19 and 12 metabolites were called back by Qingqiao and Laoqiao, respectively. The metabolic pathway enrichment analysis showed that Qingqiao exerted its therapeutic effects by affecting 6 key metabolic pathways, including linoleic acid metabolism, phenylalanine metabolism, phenylalanine, tyrosine and tryptophan biosynthesis, glycerophospholipid metabolism, α-linolenic acid metabolism, and arachidonic acid metabolism, and Laoqiao exerted therapeutic effects by affecting 6 key metabolic pathways, including linoleic acid metabolism, arachidonic acid metabolism, sphingolipid metabolism, phenylalanine metabolism, ascorbate and aldarate metabolism, and glycerophospholipid metabolism. ConclusionQingqiao and Laoqiao have therapeutic effects on ALI, and Qingqiao is more effective. Both of them can play a therapeutic role in ALI by regulating amino acid metabolism and lipid metabolism, but the metabolic pathways affected by them are different.
5.Longitudinal extrauterine growth restriction in extremely preterm infants: current status and prediction model
Xiaofang HUANG ; Qi FENG ; Shuaijun LI ; Xiuying TIAN ; Yong JI ; Ying ZHOU ; Bo TIAN ; Yuemei LI ; Wei GUO ; Shufen ZHAI ; Haiying HE ; Xia LIU ; Rongxiu ZHENG ; Shasha FAN ; Li MA ; Hongyun WANG ; Xiaoying WANG ; Shanyamei HUANG ; Jinyu LI ; Hua XIE ; Xiaoxiang LI ; Pingping ZHANG ; Hua MEI ; Yanju HU ; Ming YANG ; Lu CHEN ; Yajing LI ; Xiaohong GU ; Shengshun QUE ; Xiaoxian YAN ; Haijuan WANG ; Lixia SUN ; Liang ZHANG ; Jiuye GUO
Chinese Journal of Neonatology 2024;39(3):136-144
Objective:To study the current status of longitudinal extrauterine growth restriction (EUGR) in extremely preterm infants (EPIs) and to develop a prediction model based on clinical data from multiple NICUs.Methods:From January 2017 to December 2018, EPIs admitted to 32 NICUs in North China were retrospectively studied. Their general conditions, nutritional support, complications during hospitalization and weight changes were reviewed. Weight loss between birth and discharge > 1SD was defined as longitudinal EUGR. The EPIs were assigned into longitudinal EUGR group and non-EUGR group and their nutritional support and weight changes were compared. The EPIs were randomly assigned into the training dataset and the validation dataset with a ratio of 7∶3. Univariate Cox regression analysis and multiple regression analysis were used in the training dataset to select the independent predictive factors. The best-fitting Nomogram model predicting longitudinal EUGR was established based on Akaike Information Criterion. The model was evaluated for discrimination efficacy, calibration and clinical decision curve analysis.Results:A total of 436 EPIs were included in this study, with a mean gestational age of (26.9±0.9) weeks and a birth weight of (989±171) g. The incidence of longitudinal EUGR was 82.3%(359/436). Seven variables (birth weight Z-score, weight loss, weight growth velocity, the proportion of breast milk ≥75% within 3 d before discharge, invasive mechanical ventilation ≥7 d, maternal antenatal corticosteroids use and bronchopulmonary dysplasia) were selected to establish the prediction model. The area under the receiver operating characteristic curve of the training dataset and the validation dataset were 0.870 (95% CI 0.820-0.920) and 0.879 (95% CI 0.815-0.942), suggesting good discrimination efficacy. The calibration curve indicated a good fit of the model ( P>0.05). The decision curve analysis showed positive net benefits at all thresholds. Conclusions:Currently, EPIs have a high incidence of longitudinal EUGR. The prediction model is helpful for early identification and intervention for EPIs with higher risks of longitudinal EUGR. It is necessary to expand the sample size and conduct prospective studies to optimize and validate the prediction model in the future.
6.Diagnostic value of MRI quantitative enhancement parameters in patient with breast cancer and their relationships with HER-2 and Ang-2
Haiying HUANG ; Qiang HONG ; Jie XIE ; Feng ZHAO ; Song XUE
Journal of Practical Radiology 2024;40(5):733-736
Objective To explore the diagnostic value of MRI quantitative enhancement parameters in breast cancer and their rela-tionships with human epidermal growth factor receptor-2(HER-2)and angiopoietin-2(Ang-2).Methods A total of 80 patients with breast cancer were selected as the study objects.The MRI quantitative enhancement parameters[rate constant(Kep),extravascular extracellular space volume fraction(Ve),volume transfer constant(Ktrans)]of all patients with different clinical staging and lymph node metastasis were compared,respectively.The receiver operating characteristic(ROC)curve was used to analyze the diagnostic value of MRI quantitative enhancement parameters on the expression of HER-2 and Ang-2.Results Kep and Ktrans in stage Ⅱ group were significantly lower than those in stage Ⅲ and Ⅳ groups(F=6.322,F=6.676;P<0.05).Kep and Ktrans in lymph node metas-tasis group were significantly higher than those in lymph node non-metastasis group(t=4.265,t=4.557;P<0.05).Kep and Ktrans in HER-2 positive group were significantly higher than those in HER-2 negative group(t=3.988,t=4.616;P<0.05).ROC curve analysis showed that the area under the curve(AUC)of the combination of Kep and Ktrans for the diagnosis of HER-2 expression in breast cancer patients was 0.887,with specificity of 0.811 and sensitivity of 0.889,respectively.Kep and Ktrans in Ang-2 positive group were signifi-cantly higher than those in Ang-2 negative group(t=2.534,t=3.189;P<0.05).ROC curve analysis showed that the AUC of the com-bination of Kep and Ktrans for the diagnosis of Ang-2 expression in breast cancer patients was 0.767,with specificity of 0.867 and sensitivity of 0.569,respectively.Conclusion MRI quantitative enhancement parameters can improve the diagnostic value of breast cancer and the expression of HER-2 and Ang-2,which are beneficial to guide the selections of clinical therapeutic regimens.
7.Application effect of rehabilitation instruction based on resourcefulness theory on exercise behavior implementation intention in patients with first-episode stroke
Yiping QUAN ; Fangfang ZHAO ; Jun SUN ; Wenjuan GUAN ; Haiying HU ; Hui ZHANG ; Fei XIE ; Yu LIANG ; Xia CHEN
Modern Clinical Nursing 2024;23(4):47-53
Objective To investigate the effect of rehabilitation instruction based on resourceful theory on the execution intention of exercise behaviour in patient with the first-episode stroke.Methods From September 2022 to February 2023,a total of 80 inpatients with first-episode stroke from a general hospital in Anhui Province participated in the study.Patients in Wards Ⅰ and Ⅱ were assigned to an intervention group,while those in Wards Ⅲ and Ⅳ were assigned to a control group,with 40 patients per group.The patients in control group received standard interventions,while those in the intervention group were offered with a rehabilitation instruction based on resourceful theory in addition to the standard interventions.Stroke patient rehabilitation exercise behaviour execution intention questionnaire,resourcefulness scale and modified Barthel were employed for assessments before and after the intervention.Results After the intervention,the intervention group showed significantly higher scores inexecutive intention of exercise behaviour,resourcefulness level and daily living activities compared to those in the control group(all P<0.01).Conclusion Rehabilitation instruction based on the theory of resourcefulness can effectively increase the executive intention of exercise behaviour in the patients with first-episode stroke,improve the resourcefulness thinking levels and enhance the daily living activity of the patients.
8.Comparative study of therapeutic effect of rubber ring and dental floss combined with hemoclipping assisted endoscopic submucosal dissection on early gastrointestinal tumor
Wenfu XIE ; Mingyong WEI ; Shan ZHANG ; Haiying LIU ; Hao LEI ; Fangyuan ZOU
Tianjin Medical Journal 2024;52(6):599-603
Objective To compare the effect of rubber ring versus dental floss combined with hemoclipping assisted en-doscopic submucosal dissection(ESD)in the treatment of early gastrointestinal tumor.Methods A total of 103 patients with early gastrointestinal cancer were divided into the rubber band traction group(rubber band group,n=51)and the dental floss traction assist group(dental floss group,n=52)according to different assisted traction techniques during ESD.The basic con-ditions of the two groups were compared before operation,as well as the amount of submucosal injection,installation time of the traction device,the amount of bleeding during operation,the time of operation,the delayed bleeding after operation,one-time complete resection rate of tumor,days in hospital after operation and complication rate at 72 hours after operation.The degree of postoperative pain(VAS pain Score),follow-up quality of life(SF-36 Score)and complications 12 months after op-eration were also recorded.Results The intraoperative submucosal injection volume,intraoperative bleeding volume,num-ber of hemostatic clamp detachment,surgical time,complication rate 72 hour after operation and postoperative hospital stay were lower in the rubber band group than those in the dental floss group(P<0.05).There was no significant difference in the number of delayed postoperative bleeding between the two groups(P>0.05).After 12 months of follow-up,patients in the rubber band group had mild postoperative pain and good quality of life.The incidence of complications decreased within 12 months after surgery in the rubber band group(P<0.05).Conclusion Compared with floss traction aid,rubber ring traction aid ESD can shorten the operation time and reduce postoperative complications,which is worth popularizing.
9.Analysis of the incidence and risk factors of sarcopenia in elderly intensive care unit patients: a prospective cohort study
Yuehao SHEN ; Linlin LI ; Haiying LIU ; Yue ZHANG ; Dongxue HUANG ; Liuqing DUAN ; Lina ZHAO ; Keliang XIE
Chinese Critical Care Medicine 2024;36(11):1196-1202
Objective:To investigate and analysis of the occurrence and influencing factors of sarcopenia in elderly critically ill patients in the intensive care unit (ICU).Methods:A prospective cohort study was conducted. Elderly patients (aged ≥ 60 years) admitted to the ICU of Tianjin Medical University General Hospital from November 2023 to June 2024 were enrolled. Clinical records were collected, and conduct muscle mass and strength measurements, as well as upper arm circumference and calf circumference were measured. Appendicular skeletal muscle index (ASMI) of less than 7.0 kg/m 2 for males and less than 5.7 kg/m 2 for females was defined as reduced muscle mass, grip strength of less than 28 kg for males and less than 18 kg for females was defined as decreased muscle strength, patients meeting both low muscle mass and low muscle strength criteria were diagnosed with sarcopenia. According to the diagnostic criteria for sarcopenia, patients were divided into sarcopenia group and non-sarcopenia group. Multivariate Logistic regression analysis was applied to identify risk factors for sarcopenia in the elderly and to develop a predictive model for the occurrence of sarcopenia. The predictive value of various risk factors for sarcopenia in elderly critically ill patients were evaluated by receiver operator characteristic curve (ROC curve). The Kaplan-Meier curve for the length of ICU stay of two groups patients were drawn. Results:Finally, 540 elderly critically ill patients were included, including 43 patients with sarcopenia, and the incidence of sarcopenia was 8.0%. Univariate analysis showed that there were significantly differences in body mass index (BMI), number of hospitalizations in the past year, the length of ICU stay, ventilation mode, duration of mechanical ventilation, pre-admission exercise habits, nutritional support methods, upper arm circumference, calf circumference, and albumin infusion between the sarcopenia group and the non-sarcopenia group. Multivariate Logistic regression analysis showed that BMI [odds ratio ( OR) = 0.79, 95% confidence interval (95% CI) was 0.67-0.93, P = 0.004], calf circumference ( OR = 0.64, 95% CI was 0.54-0.76, P < 0.001), and duration of mechanical ventilation ( OR = 1.06, 95% CI was 1.01-1.12, P = 0.034) were associated with an increased risk of sarcopenia in elderly critically ill patients. The ROC curve results showed that the area under the curve (AUC) and 95% CI of BMI, calf circumference, and duration of mechanical ventilation for predicting sarcopenia in elderly critically ill patients were 0.828 (0.767-0.888), 0.889 (0.844-0.933), and 0.397 (0.299-0.496), respectively, with cut-off values of 22.95 kg/m 2, 28.25 cm, and 50.50 days, respectively. The Kaplan-Meier curve showed that the cumulative survival rate of patients with sarcopenia was significantly lower than that of the non-sarcopenia group (Log-Rank test: χ 2 = 5.619, P = 0.018). Conclusion:Lower BMI, smaller calf circumference, and longer duration of mechanical ventilation are associated with an increased risk of sarcopenia in critically ill elderly patients.
10.Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants.
Chenchen ZHANG ; Linqi CHEN ; Xiuli CHEN ; Rongrong XIE ; Fengyun WANG ; Ting CHEN ; Xiaoyan WANG ; Hui SUN ; Dandan ZHANG ; Haiying WU
Chinese Journal of Medical Genetics 2023;40(3):322-327
OBJECTIVE:
To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene.
METHODS:
Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed.
RESULTS:
All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up.
CONCLUSION
Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.
Child
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Male
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Infant, Newborn
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Female
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Humans
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Retrospective Studies
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Hypothyroidism/genetics*
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Genetic Testing
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Mothers
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Immunoglobulins/genetics*
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Membrane Proteins/genetics*

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