1.Two cases of Non-classic adrenal hyperplasia: Diagnostic strategies and genetic variant analysis.
Qigang ZHANG ; Xia ZHAN ; Qing SHENG ; Mi YU ; Yinbao LU
Chinese Journal of Medical Genetics 2026;43(4):273-280
OBJECTIVE:
To investigate the clinical characteristics, steroid hormone profiles, and genetic variants in two female patients with Non-classic adrenal hyperplasia (NCAH).
METHODS:
Clinical data and samples were collected from two patients who had visited Huaian Maternal and Child Health Care Hospital Affiliated to Medical College of Yangzhou University on September 27, 2022 and June 25, 2023, respectively, with an initial diagnosis of Polycystic ovary syndrome (PCOS) and suspected NCAH. Seven steroid hormones in dried blood spots were analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Single base variants and repeat/deletions in the CYP21A2 gene were analyzed by using a classic congenital adrenal hyperplasia (CAH) gene assay, and 10 related genes were analyzed by third-generation sequencing (TGS) should the variants be unclear. This study has been approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025003).
RESULTS:
Patient 1 was a 14-year-old girl, and patient 2 was a 23-year-old woman with insulin resistance. Both patients had hirsutism, acne, bilateral polycystic ovarian morphology, in addition with significantly elevated serum testosterone by chemiluminescence. The steroid hormone profiles of both patients suggested a significant increase in 17-hydroxyproesterone, normal cortisol and 11-deoxycortisol. Patient 2 additionally showed a significant rise in 21-deoxycortisol. The presentation of both patients was indicative of NCAH, which was also evidenced by their respective medical histories. Sanger sequencing of long fragment PCR amplification combined with multiplex ligation-dependent probe amplification (MLPA) revealed that patient 1 harbored a mild c.92C>T (p.P31L) variant and a severe variant with a large segmental deletion in CYP21A2. Patient 2 was finally confirmed by TGS to carry mild CYP21A2 variants in the 5' untranslated region (5' UTR) promotor region (c.-126C>T, c.-113G>A, c.-110T>C) and a severe c.293-13C/A>G variant. The promotor region variants had resulted in decompression of the long fragment P1X/P2 amplification, leading to homozygous result of Sanger sequencing for c.293-13C/A>G, which in turn halved the amplification signal for the wt-113 SNP probe. In addition, the wtI2G-A probe was enhanced by interference in the MLPA assay.
CONCLUSION
This study demonstrated that NCAH should be excluded when PCOS is accompanied by a significant increase in serum testosterone, that mass spectrometry of steroid hormone profiles containing 17-hydroxyprogesterone is useful for the detection of NCAH, and that TGS is advantageous in confirming the diagnosis of NCAH when compared with conventional genetic testing methods.
Humans
;
Female
;
Adrenal Hyperplasia, Congenital/blood*
;
Adolescent
;
Steroid 21-Hydroxylase/genetics*
;
Young Adult
;
Genetic Variation
;
Adult
2.Development and application of novel portable heat illness/stroke first-aid kit
Yong-hui ZHANG ; Lin-cheng MI ; Cong-tao GUO ; Qing-ping ZHU ; Qing SONG ; Jing-chun SONG
Chinese Medical Equipment Journal 2025;46(9):108-113
Objective To develop a portable heat illness/stroke first-aid kit for on-site first aid of heat illness patients and verify its application effect.Methods The portable heat illness/stroke first-aid kit was composed of a main box,an adjustable telescopic rod,adjustable shoulder straps,universal rollers and a thermal insulation container.The main box made of aluminum alloy material had the inner surface lined with Oxford cloth,which was equipped with an infrared cochlear thermometer,a nebulizer,first aid medicines,heat stroke medicines,a sun umbrella,a cooling blanket,etc;the adjustable telescopic rod was made of aluminum-magnesium alloy;the adjustable shoulder straps was made of high-density nylon webbing;the universal rollers were rubberized and had wheel brakes;the thermal insulation container was located in the lower storage compartment inside the main box,which used polyurethane(PU)material for thermal insulation.The data on on-site first aid of the patients with moderate heat illness or stroke at some institution from 2019 to 2022 were analyzed retrospectively,with the patients treated with the traditional methods enrolled into a control group and the ones with the first-aid kit into an experimental group.The temperature changes at 0,10,20,30,40,50 and 60 min after the start of treatment were investigated to compare the cooling effects of the two groups.Results The heat illness/stroke first-aid kit lowered the patient temperature effectively during the on-site first aid of the patients with moderate heat illness or stroke,with higher cooling speed and effect than the traditional methods,especially at the early stage of treatment.Conclusion The heat illness/stroke first-aid kit with complete functions and easy operation decreases temperature of heat illness patients efficiently,and can be applicable to the scenarios such as field training and outdoors high-temperature operation.[Chinese Medical Equipment Journal,2025,46(9):108-113]
3.Effects of quercetin loaded with different nanomaterials on prevention and treatment of brain edema in rats at high altitude
Qing-yan YAN ; Min DU ; Hong LUO ; Mi TANG
Chinese Medical Equipment Journal 2025;46(5):27-33
Objective To explore the preventive and therapeutic effects of quercetin(QU)loaded with different nanomate-rials on high altitude cerebral edema(HACE)in rats and their mechanisms.Methods Thirty male SD rats were selected and equally divided into a normoxic group,a HACE group,a HACE+QU group,a HACE+carbon quantum dots(CQDs)-loaded QU(QU@CQDs)group,a HACE+mesoporous silica(MS)-loaded QU(QU@MS)group and a HACE+zeolitic imida-zolate framework-8(ZIF-8)loaded QU(QU@ZIF-8)group.The rats except those in the normoxic group were exposed to a simulated 5 000 m altitude in a low-pressure oxygen chamber,which were orally administered QU at a dose of 5 mg/g body mass 1 h before hypoxic exposure except those in the HACE group.The groups were compared in terms of the effects of the materials on the water content of rat brain tissue,cerebrovascular leakage,hematological changes and NF-κB-related mechanisms.Statistical analysis was performed using SPSS 26.0 software.Results When compared with the rats in the normoxic group,the ones in the HACE group showed significant increases in brain tissue water content,cerebrovascular leakage,leukocytes,erythrocytes,lymphocytes,monocytes,granulocytes,mean erythrocyte volume,hemoglobin,hematocrit,platelets,reactive oxygen species and malondialdehyde and NF-κB protein levels,with obvious oxidative damage and statistically decreased oxidative stress parameters including glutathione peroxidase,glutathione and superoxide dismutase(all P<0.05).When compared with the HACE+QU@CQDs and HACE+QU@MS groups,the HACE+QU@ZIF-8 group gained advantages with the lowest brain tissue water content,improved cerebrovascular leakage,leukocytes,erythrocytes,lymphocytes,monocytes,granulocytes,mean erythrocyte volume,hematocrit,platelets and hemoglobin,decreased oxidative damagea and oxidative stress,enhanced antioxidant enzyme levels and the statistically lowered NF-κB protein level.Conclusion ZIF-8 loaded QU behaves better than CQDs and MS in reducing inflammation and brain edema formation in HACE rats.[Chinese Medical Equipment Journal,2025,46(5):27-33]
4.Research on theequity of primary healthcare human resources allocation and its driving path:A qualitative comparative analysis based on Fuzzy Set Qualitative Comparative Analysis
Xiao-chen FENG ; Yong-qiang WANG ; Ran WANG ; Xin WANG ; Sheng LUO ; Yu-qing MI
Chinese Journal of Health Policy 2025;18(4):59-65
Objective:To explore the equity and driving path of primary healthcare human resource allocation across 31 provinces in China,providing references for optimizing such allocations.Methods:Using data from the 2022 primary healthcare human resources in 31 provinces in China,the Health Resource Density Index(HRDI)was used to measure the equity of primary healthcare human resource allocation.The fuzzy-set Qualitative Comparative Analysis(fsQCA)was applied to construct configurational pathways influencing on allocation patterns.Results:In 2022,the HRDI for primary healthcare human resources in China was 2.349 0 in the East,1.198 6 in the Central region,and 0.775 2 in the West.Configurational analysis revealed three paths that promote high equity:the internal-external balance-driven model(H1),the government-led model(H2),and the economic-demand combined model(H3),with overall consistency and coverage of 0.955 and 0.794,respectively.Seven paths lead to low equity:internal-external constraint models(L1,L2),economic constraint models(L3),and demand constraint models(L4,L5,L6,L7),with overall consistency and coverage of 0.967 and 0.795,respectively.Conclusions:Significant regional disparities exist in the equity of primary healthcare human resource allocation in China.Population density is a critical factor influencing allocation equity.The collaboration of various factors contributes to enhancing the equity of primary healthcare human resources distribution.Therefore,future efforts to enhance equity should focus on promoting inter-regional mobility and resource sharing,while precisely addressing regional shortcomings to achieve high equity in primary healthcare human resource allocation.
5.Clinical characteristics and prognosis of 18 patients with plasmablastic lymphoma
Shanshan WENG ; Qing SHI ; Weili ZHAO ; Jianqing MI ; Li WANG
Chinese Journal of Hematology 2025;46(9):865-869
Plasmablastic lymphoma (PBL) is a rare, highly aggressive non-Hodgkin lymphoma subtype for which no standardized therapeutic regimen has been established in clinical practice. This study retrospectively analyzed 18 PBL cases at Shanghai Ruijin Hospital from July 2012 to June 2024. Participants comprised 12 males and 6 females, with a median age of 59 (39–77) years. Twelve (66.7% ) cases presented at stage Ⅲ/Ⅳ, nine (50% ) have cytopenia, 12 (66.7% ) have increased lactate dehydrogenase level, and four (22.2% ) had a Ki-67 index of ≥90%. The tumor cells highly expressed CD38 (15/17, 88.2% ) /CD138 (12/17, 70.6% ), whereas the B-cell marker CD20 was rarely detected (1/17, 5.9% ). Of the 11 cases that underwent genetic sequencing, common mutations included TP53 (27.3% ), KMT2D (18.2% ), and TET2 (18.2% ). After excluding one patient with positive HIV who died without treatment, 17 patients received first-line therapy, achieving a complete response in 10 (58.8% ) and a partial response in 5 (29.4% ) cases. With the median follow-up time of 4.33 (0.17–12.17) years, Kaplan-Meier analysis indicated that the 2-year progression-free survival rate and overall survival rate were (68.5±11.2) % and (75.5±10.1) %, respectively.
6.Clinical characteristics and prognosis of 18 patients with plasmablastic lymphoma
Shanshan WENG ; Qing SHI ; Weili ZHAO ; Jianqing MI ; Li WANG
Chinese Journal of Hematology 2025;46(9):865-869
Plasmablastic lymphoma (PBL) is a rare, highly aggressive non-Hodgkin lymphoma subtype for which no standardized therapeutic regimen has been established in clinical practice. This study retrospectively analyzed 18 PBL cases at Shanghai Ruijin Hospital from July 2012 to June 2024. Participants comprised 12 males and 6 females, with a median age of 59 (39–77) years. Twelve (66.7% ) cases presented at stage Ⅲ/Ⅳ, nine (50% ) have cytopenia, 12 (66.7% ) have increased lactate dehydrogenase level, and four (22.2% ) had a Ki-67 index of ≥90%. The tumor cells highly expressed CD38 (15/17, 88.2% ) /CD138 (12/17, 70.6% ), whereas the B-cell marker CD20 was rarely detected (1/17, 5.9% ). Of the 11 cases that underwent genetic sequencing, common mutations included TP53 (27.3% ), KMT2D (18.2% ), and TET2 (18.2% ). After excluding one patient with positive HIV who died without treatment, 17 patients received first-line therapy, achieving a complete response in 10 (58.8% ) and a partial response in 5 (29.4% ) cases. With the median follow-up time of 4.33 (0.17–12.17) years, Kaplan-Meier analysis indicated that the 2-year progression-free survival rate and overall survival rate were (68.5±11.2) % and (75.5±10.1) %, respectively.
7.Acupuncture at Weizhong (BL40) attenuates acetic acid-induced overactive bladder in rats by regulating brain neural activity through the modulation of mast cells and tibial nerves.
Xin LIU ; Chao-Yue ZHANG ; Xiu-Yu DU ; Shan-Shan LI ; Yu-Qing WANG ; Yi ZHENG ; Han-Zhi DENG ; Xiao-Qin FANG ; Jia-Ying LI ; Zu-Qing WANG ; Shi-Fen XU ; Yi-Qun MI
Journal of Integrative Medicine 2025;23(1):46-55
OBJECTIVE:
The present study evaluated the effects of deep acupuncture at Weizhong acupoint (BL40) on bladder function and brain activity in a rat model of overactive bladder (OAB), and investigated the possible mechanisms around the acupuncture area that initiate the effects of acupuncture.
METHODS:
Adult female Sprague-Dawley rats were randomly divided into six groups, comprising a control group, model group, group treated with deep acupuncture at BL40, group treated with shallow acupuncture at BL40, group treated with acupuncture at non-acupoint next to BL40, and group treated with acupuncture at Xuanzhong (GB39). Urodynamic evaluation was used to observe the urination, and functional magnetic resonance imaging was used to observe the brain activation. The mechanism of acupuncture at BL40 in regulating bladder function was explored by toluidine blue staining and enzyme-linked immunosorbent assay, and the mechanism was verified by stabilizing mast cells (MCs) or blocking tibial nerve.
RESULTS:
Deep acupuncture at BL40 significantly increased the intercontraction interval in OAB rats and enhanced the mean amplitude of low frequency fluctuation of primary motor cortex (M1), periaquaductal gray matter (PAG), and pontine micturition center (PMC). It also increased the zero-lag functional connectivity between M1 and PAG and between PAG and PMC. Shallow acupuncture at BL40 and acupuncture at non-acupoint or GB39 had no effect on these indexes. Further studies suggested that deep acupuncture at BL40 increased the number and degranulation rate of MCs as well as the contents of 5-hydroxytryptamine, substance P, and histamine in the tissues around BL40. Blocking the tibial nerve by lidocaine injection or inhibiting MC degranulation by sodium cromoglycate injection obstructed the effects of acupuncture on restoring urinary function and modulating brain activation in OAB rats.
CONCLUSION
Deep acupuncture at BL40 may be more effective for inhibiting OAB by promoting degranulation of MCs around the acupoint and stimulating tibial nerve, thereby regulating the activation of the brain area that controls the lower urinary tract. Please cite this article as: Liu X, Zhang CY, Du XY, Li SS, Wang YQ, Zheng Y, Deng HZ, Fang XQ, Li JY, Wang ZQ, Xu SF, Mi YQ. Acupuncture at Weizhong (BL40) attenuates acetic acid-induced overactive bladder in rats by regulating brain neural activity through the modulation of mast cells and tibial nerves. J Integr Med. 2025; 23(1): 46-55.
Animals
;
Urinary Bladder, Overactive/physiopathology*
;
Mast Cells/physiology*
;
Rats, Sprague-Dawley
;
Female
;
Acupuncture Therapy
;
Acupuncture Points
;
Rats
;
Brain/physiopathology*
;
Tibial Nerve/physiopathology*
;
Acetic Acid
;
Urinary Bladder/physiopathology*
8.Characteristics and Risk Analysis of COVID-19 Infection in Patients with Multiple Myeloma after Autologous Hematopoietic Stem Cell Transplantation.
Meng-Meng PAN ; Shi-Wei JIN ; Wan-Yan OUYANG ; Yan WAN ; Yi TAO ; Yuan-Fang LIU ; Wei-Ping ZHANG ; Jian-Qing MI
Journal of Experimental Hematology 2025;33(5):1358-1365
OBJECTIVE:
To retrospectively analyze the characteristics and influencing factors of COVID-19 infection in patients with multiple myeloma (MM) who underwent autologous hematopoietic stem cell transplantation (AHSCT).
METHODS:
The clinical data of MM patients who underwent AHSCT in Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from May 26, 2021 to December 26, 2022 were collected. The onset of COVID-19 infection, corresponding symptoms and laboratory tests were followed up in outpatient or by the means of telephone contact and online questionnaires. Related analysis was then performed.
RESULTS:
This study included 96 patients, and 72 cases among them were infected with COVID-19 while 24 cases were uninfected. Logistic regression analysis showed that vaccination did not significantly reduce the risk of COVID-19 infection, but patients who received two doses of the vaccine had a lower risk of developing moderate and severe disease than those who did not receive or received one dose (OR =0.06, P =0.029). Patients who received daratumumab before had a higher risk of COVID-19 infection (OR =5.78, P =0.039), while those with a history of immunomodulatory drugs (IMiDs) had the opposite effect (OR =0.31, P =0.028). The use of both drugs did not affect the severity of COVID-19 infection.
CONCLUSION
For MM patients undergoing AHSCT as first-line chemotherapy, COVID-19 vaccination does not significantly reduce the infection rate, but it plays a role in preventing moderate and severe cases. The application of antineoplastic drugs with different mechanisms has a certain impact on the susceptibility to the COVID-19, which should be considered comprehensively when creating treatment plans.
Humans
;
Multiple Myeloma/complications*
;
COVID-19/epidemiology*
;
Hematopoietic Stem Cell Transplantation
;
Transplantation, Autologous
;
Retrospective Studies
;
Risk Assessment
;
Risk Factors
;
Male
;
Female
;
Middle Aged
;
SARS-CoV-2
;
Adult
;
Antibodies, Monoclonal
9.Effects of quercetin loaded with different nanomaterials on prevention and treatment of brain edema in rats at high altitude
Qing-yan YAN ; Min DU ; Hong LUO ; Mi TANG
Chinese Medical Equipment Journal 2025;46(5):27-33
Objective To explore the preventive and therapeutic effects of quercetin(QU)loaded with different nanomate-rials on high altitude cerebral edema(HACE)in rats and their mechanisms.Methods Thirty male SD rats were selected and equally divided into a normoxic group,a HACE group,a HACE+QU group,a HACE+carbon quantum dots(CQDs)-loaded QU(QU@CQDs)group,a HACE+mesoporous silica(MS)-loaded QU(QU@MS)group and a HACE+zeolitic imida-zolate framework-8(ZIF-8)loaded QU(QU@ZIF-8)group.The rats except those in the normoxic group were exposed to a simulated 5 000 m altitude in a low-pressure oxygen chamber,which were orally administered QU at a dose of 5 mg/g body mass 1 h before hypoxic exposure except those in the HACE group.The groups were compared in terms of the effects of the materials on the water content of rat brain tissue,cerebrovascular leakage,hematological changes and NF-κB-related mechanisms.Statistical analysis was performed using SPSS 26.0 software.Results When compared with the rats in the normoxic group,the ones in the HACE group showed significant increases in brain tissue water content,cerebrovascular leakage,leukocytes,erythrocytes,lymphocytes,monocytes,granulocytes,mean erythrocyte volume,hemoglobin,hematocrit,platelets,reactive oxygen species and malondialdehyde and NF-κB protein levels,with obvious oxidative damage and statistically decreased oxidative stress parameters including glutathione peroxidase,glutathione and superoxide dismutase(all P<0.05).When compared with the HACE+QU@CQDs and HACE+QU@MS groups,the HACE+QU@ZIF-8 group gained advantages with the lowest brain tissue water content,improved cerebrovascular leakage,leukocytes,erythrocytes,lymphocytes,monocytes,granulocytes,mean erythrocyte volume,hematocrit,platelets and hemoglobin,decreased oxidative damagea and oxidative stress,enhanced antioxidant enzyme levels and the statistically lowered NF-κB protein level.Conclusion ZIF-8 loaded QU behaves better than CQDs and MS in reducing inflammation and brain edema formation in HACE rats.[Chinese Medical Equipment Journal,2025,46(5):27-33]
10.Research on theequity of primary healthcare human resources allocation and its driving path:A qualitative comparative analysis based on Fuzzy Set Qualitative Comparative Analysis
Xiao-chen FENG ; Yong-qiang WANG ; Ran WANG ; Xin WANG ; Sheng LUO ; Yu-qing MI
Chinese Journal of Health Policy 2025;18(4):59-65
Objective:To explore the equity and driving path of primary healthcare human resource allocation across 31 provinces in China,providing references for optimizing such allocations.Methods:Using data from the 2022 primary healthcare human resources in 31 provinces in China,the Health Resource Density Index(HRDI)was used to measure the equity of primary healthcare human resource allocation.The fuzzy-set Qualitative Comparative Analysis(fsQCA)was applied to construct configurational pathways influencing on allocation patterns.Results:In 2022,the HRDI for primary healthcare human resources in China was 2.349 0 in the East,1.198 6 in the Central region,and 0.775 2 in the West.Configurational analysis revealed three paths that promote high equity:the internal-external balance-driven model(H1),the government-led model(H2),and the economic-demand combined model(H3),with overall consistency and coverage of 0.955 and 0.794,respectively.Seven paths lead to low equity:internal-external constraint models(L1,L2),economic constraint models(L3),and demand constraint models(L4,L5,L6,L7),with overall consistency and coverage of 0.967 and 0.795,respectively.Conclusions:Significant regional disparities exist in the equity of primary healthcare human resource allocation in China.Population density is a critical factor influencing allocation equity.The collaboration of various factors contributes to enhancing the equity of primary healthcare human resources distribution.Therefore,future efforts to enhance equity should focus on promoting inter-regional mobility and resource sharing,while precisely addressing regional shortcomings to achieve high equity in primary healthcare human resource allocation.

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