1.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
2.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
3.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
4.Application and evaluation of structured symptom intervention program in patients with chronic kidney disease during peri-dialysis period
Hongmei PENG ; Shi PU ; Min WANG ; Yang LI ; Xia HUANG ; Youying ZHANG ; Yu SHI ; Rongrong ZHAO
Journal of Army Medical University 2025;47(20):2522-2531
Objective To evaluate the application efficacy of structured symptom intervention program in patients with chronic kidney disease(CKD)during the peri-dialysis period.Methods A non-simultaneous control study was conducted on 151 peri-dialysis outpatients having not yet initiated dialysis and being followed up who were subjected with convenience sampling from Department of Nephrology of Second Affiliated Hospital of Army Medical University from April to September 2024.According to the time period of their visits,the patients who visited from April to June 2024 were assigned into a control group(n=75),and those from July to September 2024 into an experimental group(n=76).The control group received conventional symptom intervention(telephone symptom reporting+health education),while the experimental group received the intervention as the control group and a structured symptom intervention program covering 4 evidence-based modules:symptom identification,assessment,intervention,and outcome.The efficacy of above treatments was evaluated before and at 3 months after intervention.Dialysis symptom index was used to assess the degree of symptom distress and the number of symptoms.MOS 36-Item Short Form Health Survey(SF-36)was employed to evaluate the quality of life.The differences in clinical indicators and endpoint events were compared between the 2 groups after intervention.Results The experimental group obtained more significant reduction in the total score of symptom distress than the control group(P=0.021).After intervention,the number of symptoms was decreased in both groups(P<0.001),but no statistical difference was observed between the groups.The score of mental health dimension in SF-36 was obviously improved in the experimental group(P=0.004),which was notably better than that in the control group(P=0.033).The experimental group exhibited significantly higher prealbumin level than the control group(P=0.019),and stable albumin level,which was significantly decreased in the control group(P=0.035).The incidence of endpoint events was remarkably lower in the experimental group than the control group(P=0.028).Conclusion The structured symptom intervention program implements intervention through a closed-loop symptom module,which can effectively alleviate the symptom distress of patients during the peri-dialysis period,improve mental health and reduce the short-term risk for endpoint events.
5.Dual-modal Magnetic Resonance Imaging Contrast Agents Based on Polymetallic Nanoclusters for Targeted Diagnosis of Prostate Cancer
Qing-Dong LI ; Peng WANG ; Jian-Min XIAO ; Wen-Juan GAO ; Zhen-Hong XIA ; Gui-Long ZHANG ; Zheng-Yan WU
Chinese Journal of Analytical Chemistry 2025;53(4):602-611
Fe/Mn/Gd polymetallic nanooxide(FMGN)were prepared by one-step solvent thermal reaction by using Fe(acac)3,Mn(acac)2 and Gd(acac)3 as reaction precursors.Next,hyaluronic acid(HA)was used to modify FMGN to fabricate tumor-targeting T 1-T 2 dual-mode magnetic resonance imaging(MRI)contrast agent(HA-FMGN)for accurate diagnosis of prostate cancer.The structure and morphology of FMGN were observed by transmission electron microscope(TEM).It was found that FMGN exhibited a uniform nanocluster spherical structure when the feeding ratio of iron acetylacetonate,manganese acetylacetonate,and gadolinium acetylacetonate was 3:2:1.X-ray diffraction(XRD)analysis showed that FMGN had a typical inverse spinel structure of Mn doped Fe 3O 4,with Gd existing in the form of amorphous gadolinium oxide.The longitudinal relaxivity(r 1)and transverse relaxivity(r 2)of FMGN were 13.395 and 428.535 L/(mmol·s),respectively,measured by 0.5 T MRI analyzer,which proved that FMGN had excellent T 1-T 2 dual-mode MRI contrast capability.The cytotoxicity and hemolysis test found that HA-FMGN didn't damage red cells and induce toxicity for normal cells,indicating that HA-FMGN had excellent cell biocompatibility.The internalization efficacy of HA-FMGN was observed by CLSM,and the results showed that HA-FMGN possessed excellent prostate tumor-targeting ability.In vivo MRI experiment showed that HA-FMGN significantly enhanced T 1 and T 2 weighted MRI signal to noise ratio(SNR)of prostate tumor,which promoted the accurate diagnosis of orthotopic prostate cancer.
6.Interpretation of Chinese expert consensus on flow cytometric detection of hematological malignant cells in tissue samples
Liangmei LI ; Shuang CHEN ; Lian LI ; Zailin YANG ; Xia MAO ; Mingxia ZHU ; Hongmei JING ; Min XIAO ; Yao LIU ; Yanrong LIU
International Journal of Laboratory Medicine 2025;46(11):1281-1289
Hematologic malignancies,such as lymphoma,myeloma,and myeloid neoplasms,can occur in extramedullary tissues.Traditional histopathological morphology and immunohistochemical staining have lim-itations,including time-consuming specimen processing,prolonged reporting cycles,and relatively low sensi-tivity in cases of limited cell numbers.Flow cytometry offers significant advantages in detecting tissue sam-ples,such as rapid processing,shorter reporting cycles,and high accuracy and sensitivity,making it an effective complement to histopathological and immunohistochemical methods.However,the application of flow cytome-try in tissue sample detection currently lacks standardized protocols for sample collection and preservation,single-cell suspension preparation,antibody panel design for limited samples,data analysis,and result repor-ting.To promote the standardized application of flow cytometry in detecting hematologic tumor cells in tissue samples,the Cell Analysis Professional Committee of the Chinese Society of Biotechnology organized experts to develop the Chinese Expert Consensus on Flow Cytometry for Detecting Hematologic Tumor Cells in Tis-sue Samples(hereinafter referred to as the Consensus).This Consensus elaborates on the technical aspects of flow cytometry for tissue sample detection,covering sample processing,antibody panel design,data analysis,reporting content,and quality management.It particularly emphasizes recommended antibody panels and data analysis methods for flow cytometry when tissue sample cell counts are low.This article aims to interpret the key points of the Consensus to facilitate its better application in clinical practice.
7.Analyzing the impact of individual and enterprise characteristics on occupational health literacy of key populations
Min YANG ; Huiqing CHEN ; Xinyang YU ; Junle WU ; Bing XIA ; Liping HUANG ; Xiaoyi LI
China Occupational Medicine 2025;52(3):257-263
Objective To analyze the factors influencing the occupational health literacy (OHL) level among workers in key industries from the perspectives of both individual workers and enterprises. Methods A total of 32 336 front-line workers from 12 key industries in the secondary industry in Guangdong Province were selected as the research subjects by a stratified cluster random sampling method. Their OHL level was investigated using Occupational Health Literacy Questionnaire of National Key Populations, and the influencing factors were analyzed. Results The OHL level of the research subjects was 48.5%. The OHL level of the research subjects in four dimensions from high to low was basic knowledge of occupational health protection, occupational health practice and behavior, legal knowledge of occupational health, and basic skills of occupational health protection (80.7%, 61.2%, 48.3% and 29.5%, respectively). The multivariable logistic regression analysis showed that the OHL level of female workers was lower than that of males (P<0.05). Lower OHL was also associated with older age, lower education level, lower personal monthly income of workers (all P<0.01). The workers with length of service < 3 years and ≥ 20 years had lower OHL level than those with length of service 3-<10 years and 10-<20 years, respectively (all P<0.05). Workers in larger enterprises had higher OHL levels (all P<0.01). The OHL level of workers in the sixth category of industries with occupational injuries had higher occupational injury risks than those in the third and fourth categories (all P<0.05). The OHL levels of workers in state-owned enterprises, private enterprises, foreign-funded enterprises, and other enterprises were higher than that of workers in public institutions (all P<0.05). Conclusion The influencing factors of workers′ OHL in key industries of the secondary industry include individual factors (gender, age, education level, personal monthly income, length of service) and enterprise factors (enterprise size, enterprise nature and industry injury risk category). Female, older workers, those with lower education or income, and those with short length of service represent priority groups for OHL interventions, while small and micro enterprises are priority units for future workplace health promotion intervention.
8.Mechanism by which sanguis draconis flavones regulating ROS/TXNIP pathway-mediated pyroptosis to ameliorate cerebral ischemia-reperfusion injury in rats
Chao-Xia ZHU ; Zhi-Ying LI ; Xiao-Fei LÜ ; Qian ZHAO ; Bao-Cang CHENG ; Hui-Jie YANG ; Li-Ping ZHOU ; Li-Min ZENG
Acta Anatomica Sinica 2025;56(6):673-680
Objective To explore the mechanism by which the sanguis draconis flavones(SDF)regulates the reactive oxygen species(ROS)/thioredoxin-interacting protein(TXNIP)pathway to mediate cell pyroptosis and improve cerebral ischemia-reperfusion injury(CIRI)in rats.Methods The experimental rats were randomly divided into the control group(Ctrl),the CIRI group,the low-dose SDF group(SDF-L),the high-dose SDF group(SDF-H),and the SDF-H+ROS/TXNIP pathway activator,trimethylamine oxide(TMAO)group(SDF-H+TMAO).Among them,except for the control group,the remaining rats all needed to establish the CIRI rat model by the modified suture method.Zea Longa scoring was performed on rats from each group.ELISA was used to detect the levels of serum inflammatory factors interleukin(IL)-1β,IL-18 and oxidative stress-related factors superoxide dismutase(SOD),malondialdehyde(MDA),glutathione peroxidase(GSH-Px).Flow cytometry was used to measure the ROS levels.Cerebral edema was detected.Cerebral infarction was detected by 2,3,5-triphenyl tetrazolium chloride(TTC)staining.HE staining was used to detect the pathological changes of brain tissue.Immunohistochemistry was used to detect the expression of pyrolytic effector protein dermolin D(GSDMD).Western blotting was used to detect the expression of proteins related to the ROS/TXNIP pathway.Results Compared with the control group,a large area of cerebral infarctions were observed in the brain tissue of the CIRI group,accompanied by mild hemorrhage and obvious infiltration of inflammatory cells.Neuronal cells underwent degeneration and necrosis,with sparse and disordered arrangement.The phenomena of nuclear condensation and nucleolus lysis were obvious.The Zea Longa score,cerebral infarction volume,brain tissue water content,levels of IL-1β,IL-18,ROS,MDA,and the expressions of GSDMD,TXNIP,nucleotide-binding oligomerization domain-like receptor protein 3(NLRP3),apoptosis-related punctate protein(ASC),and Caspase-1 increased,while the activities of SOD and GSH-Px decreased(P<0.05).Compared with the CIRI group,the pathological damage of brain tissues in the SDF-L group and the SDF-H group was significantly improved.The Zea Longa score,cerebral infarction volume,brain tissue water content,levels of IL-1β,IL-18,ROS,MDA,and the expressions of GSDMD,TXNIP,NLRP3,ASC,and Caspase-1 decreased.The activities of SOD and GSH-Px increased(P<0.05);TMAO treatment partially reversed the improvement effect of SDF on CIRI in rats.Conclusion SDF ameliorates cerebral CIRI in rats by inhibiting ROS/TXNIP pathway-mediated pyroptosis.
9.Two novel rare variants in the PTH gene found in patients with hypoparathyroidism
Yue JIANG ; An SONG ; Jiajia WANG ; Xinqi CHENG ; Jing YANG ; Yan JIANG ; Mei LI ; Weibo XIA ; Xiaoping XING ; Min NIE ; Ou WANG
Osteoporosis and Sarcopenia 2025;11(1):22-28
Objectives:
Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) defi ciency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) ofPTH through in vitro functional study.
Methods:
Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbu tyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.
Results:
Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified.Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.
Conclusions
In this study, two novel RVs of PTH(Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.
10.Observation on the therapeutic effect of pre-reduction with traditional Chinese medicine bone-setting manipulation in the treatment of supracondylar fracture of humerus in children
Min WU ; Qunqun ZENG ; Xiangping DU ; Jian LI ; Xia LI
China Modern Doctor 2025;63(22):9-11,15
Objective To explore the effect of delayed Kirschner wire fixation after emergency pre-reduction with traditional Chinese medicine bone-setting manipulation in the treatment of supracondylar fracture of humerus in children.Methods Sixty patients with supracondylar fracture of humerus admitted to Jiangxi Provincial Children's Hospital from June 2022 to June 2023 were selected and divided into observation group and control group according to the random number table method,with 30 cases in each group.The observation group adopted emergency pre-reduction with traditional Chinese medicine bone-setting manipulation and delayed surgical reduction,and the control group underwent delayed surgical reduction.The operation time,intraoperative fluoroscopy frequency,reduction condition,postoperative complications,elbow joint function at the last follow-up of two groups of children were compared.Results The operation time of children in observation group was significantly shorter than that in control group,and the number of fluoroscopy was significantly less than that in control group(P<0.05).The proportion of anatomical reduction in observation group was significantly higher than that in control group(P<0.05).There was no statistically significant difference in fracture healing time between two groups of children(P>0.05).Neither of two groups of children had conversion incision,postoperative re-displacement of fractures,nerve injury,infection,cubitus varus or elbow valgus deformity,etc..At the last follow-up,there was no statistically significant difference in the excellent and good rate of elbow joint function between two groups of children(P=0.301).Conclusion Emergency traditional Chinese medicine bone-setting manipulation in the treatment of supracondylar fracture of humerus in children can shorten the operation time,reduce the radiation dose,alleviate the burden of emergency medical treatment,have no obvious complications,and have a good effect.It is worthy of promotion.

Result Analysis
Print
Save
E-mail