1.Improvement effect and mechanism of desloratadine citrate disodium in hypersensitivity pneumonitis model mice
Wenjuan PENG ; Yan ZHAO ; Shaoyun YUE ; Yujiao WU ; Jiajia MO ; Zhaoxing CHU
China Pharmacy 2025;36(15):1882-1886
OBJECTIVE To investigate the improvement effect and mechanism of desloratadine citrate disodium in mice with hypersensitivity pneumonitis (HP). METHODS Sixty mice were randomly divided into blank control group (normal saline), model group (normal saline), prednisone group (positive control, 20 mg/kg) and desloratadine citrate disodium low-, medium- and high-dose groups (0.5, 1, 2 mg/kg), with 10 mice in each group. Except for the blank control group, mice in other groups were intraperitoneally injected with ovalbumin (OVA) and exposed to OVA inhalation to establish the HP model. On day 22 post- modeling, mice in each group were administered the corresponding drugs or normal saline, once a day, for 11 consecutive days. After the last administration, lung function and airway hyperreactivity were assessed. The levels of interleukin-1β (IL-1β), IL-4 and IL-6 in serum as well as the levels of IL-8, IL-13 and IL-17A in bronchoalveolar lavage fluid were determined. Pathological changes in lung tissue of mice were evaluated using Masson staining. Furthermore, the expressions of fibrosis-related proteins, including transforming growth factor β1 (TGF-β1), type Ⅲ collagen (Col-Ⅲ) and fibronectin (FN) were determined in lung tissues. RESULTS Compared with the blank control group, the model group showed significant deterioration in lung function (P< 0.01), while airway resistance and serum levels of IL-1β, IL-4, IL-6 and the levels of IL-8, IL-13 and IL-17A in the bronchoalveolar lavage fluid were increased significantly (P<0.01). The lung tissues exhibited alveolar collapse, atrophy, and structural disarray, along with the formation of extensive deposits of blue collagen fibers, the percentage of positive staining increased significantly (P<0.01). Additionally, the expression levels of TGF-β1, Col-Ⅲ, and FN proteins in the lung tissues were also increased significantly (P<0.01). After intervention with desloratadine citrate disodium, the pathological changes in the lung tissues of mice in each dosage group of desloratadine citrate disodium showed varying degrees of improvement, and most of the aforementioned indicator levels were significantly reversed (P<0.05 or P<0.01). CONCLUSIONS Desloratadine citrate disodium can improve the lung function and airway hyperreactivity of HP mice, inhibit the release of inflammatory factors in serum and bronchoalveolar lavage fluid, and reduce the deposition of collagen fibers. Its mechanism of action may be related to anti-inflammatory, immunomodulatory, and antifibrotic effects.
2.A rapid method for detecting prfA and hly toxin genes of Listeria monocytogenes using double nucleic acid colloidal gold strips.
Yan LIU ; Jianyu YANG ; Yujiao ZHOU ; Wenbo DING ; Xianyu ZHANG ; Linran GAO ; Beizhen PAN ; Jifei YANG ; Yundong ZHAO
Journal of Southern Medical University 2025;45(2):387-394
OBJECTIVES:
To detect prfA and hly toxin genes of Listeria monocytogenes using polymerase chain reaction (PCR) and colloidal gold technology.
METHODS:
L. monocytogenes DNA was extracted by boiling method. With prfA and hly of L. monocytogenes as the target genes, the 5' ends of upstream and downstream primers of prfA gene were labeled with 6-FAM and biotin, and the 5' ends of upstream and downstream primers of hly gene were labeled with digoxin and biotin, respectively, to establish the toxin gene detection method. Using cloning transformation, sequencing analysis, cloning of positive control products, the detection kid was developed and its specificity, sensitivity, reproducibility and stability were tested, followed by verification with sample testing.
RESULTS:
The concentration of L. monocytogenes DNA extracted by boiling method was 148.81±0.97 ng/μL, and the A260/A280 ratio ranged from 1.8 to 2.0. The PCR products showed a 100% homology with the gene sequences in GenBank database after cloning, transformation and sequencing. The colloidal gold strip yielded positive results only for L. monocytogenes samples without cross-reactions with Staphylococcus aureus, Escherichia coli or Bacillus cereus, and its minimum detection limit was 10-2 ng/μL, demonstrating a 10-fold greater sensitivity of the test than agarose gel electrophoresis. The test also showed good reproducibility of the results when performed by different operators with good stability of the test strips after storage for 6 to 12 months. The test results showed that this kit could accurately and quickly detect L.monocytogenes in the test samples.
CONCLUSIONS
The detection kit developed in this study can simultaneously detect prfA and hly toxin genes of L. monocytogenes with good specificity, sensitivity, reproducibility and stability for use in food safety inspection.
Listeria monocytogenes/isolation & purification*
;
Gold Colloid
;
Bacterial Toxins/genetics*
;
Polymerase Chain Reaction/methods*
;
Hemolysin Proteins/genetics*
;
Bacterial Proteins/genetics*
;
DNA, Bacterial/genetics*
;
Food Microbiology
;
Heat-Shock Proteins
3.Association between high body fat mass and elevated blood pressure in children
YAN Yujiao, YANG Hui, CHENG Anlan, ZHAO Min, XI Bo
Chinese Journal of School Health 2024;45(10):1393-1398
Objective:
To examine the association between high body fat mass and elevated blood pressure in children,so as to provide scientific evidence for the prevention and treatment of childhood hypertension.
Methods:
Participants were recruited from the second follow up survey of the Huantai Childhood Cardiovascular Health Cohort Study conducted in 2021 in Huantai County, Zibo City, Shandong Province, China. A total of 1 266 children aged 10-15 years old were included. The study categorized fat mass (FM), fat mass percentage (FMP), fat mass index (FMI), subcutaneous fat mass (SFM), and visceral fat mass (VFM), respectively, into normal and elevated groups based on age and gender specific median values ( P 50 ) in the study population. The multivariate Logistic regression model was used to analyze the association between the status of body mass and elevated blood pressure. A restrictive cubic spline (RCS) model was used to examine the dose response relationship between the levels of body mass and elevated blood pressure.
Results:
The detection rates of elevated blood pressure in children with elevated FM, elevated FMP, elevated FMI, elevated SFM, and elevated VFM were all significantly higher than those in the normal group ( P <0.05). After adjusting for all potential covariates, compared to the normal group, elevated FM ( OR =4.51, 95% CI =3.28-6.28), elevated FMP ( OR =4.51, 95% CI =3.28-6.27), elevated FMI ( OR =4.40, 95% CI =3.20-6.12), elevated SFM ( OR =4.52, 95% CI =3.29- 6.30 ), and elevated VFM ( OR =4.48, 95% CI =3.28-6.18) were all positively associated with elevated blood pressure ( P <0.05). The RCS analysis demonstrated that the high levels of FM, FMP, FMI, and SFM showed linear doseresponse relationships with elevated blood pressure ( P non linear >0.05), and elevated VFM was associated with elevated blood pressure in a nonlinear dose response relationship ( P non linear <0.05).
Conclusions
Children with elevated body fat have a higher risk of elevated blood pressure. There was a dose response relationship between high body mass content and elevated blood pressure in children. It is essential to take appropriate measures to reduce the elevated body fat in children, in order to prevent the occurrence of high elevated blood pressure in children.
4.Evaluation of the efficacy and safety of phacoemulsification under the IOL protection: a randomized controlled clinical study
Yujiao JIN ; Nan LI ; Qiushuang SUN ; Weiyi JIN ; Meiling JIANG ; Yingfeng LIU ; Yan LU ; Lixia SUN ; Renzhe CUI
Chinese Journal of Experimental Ophthalmology 2024;42(3):248-255
Objective:To observe the therapeutic effect of intraocular lens (IOL) protected phacoemulsification (PHACO) in patients with hard nucleus cataract.Methods:A randomized controlled clinical study was conducted.A total of consecutive 120 patients (120 eyes) with hard nucleus cataract of Emery grade Ⅳ or Ⅴ were enrolled from January 2019 to May 2022.The patients were randomly divided into PHACO group receiving routine PHACO, IOL protected PHACO group receiving PHACO under IOL protection, and extracapsular cataract extraction (ECCE) group receiving ECCE, with 40 cases (40 eyes) in each group.Finally, 99 patients completed the follow-up, including 30 cases (30 eyes) in PHACO group, 35 cases (35 eyes) in IOL protected PHACO group, and 34 cases (34 eyes) in ECCE group.The total operation time, intraoperative PHACO time and cumulative energy release of each patient were recorded.The corneal endothelial cell density (ECD), coefficient of variation in endothelial cell area (CV), hexagonal endothelial cell ratio (6A), corneal astigmatism and the number of eyes with different grades of uncorrected visual acuity were measured and compared after 3-month follow-up.The intraoperative and postoperative complications were recorded.This study adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Yanbian University Hospital (NO.2023002).Patients were informed of study content and purpose and signed a consent form before treatment.Results:There was no significant difference in ultrasonic energy and time between PHACO group and IOL protected PHACO group ( P=0.691, 0.982).The total operation time was (38.81±2.73) and (36.45±3.45) minutes in PHACO group and IOL protected PHACO group, significantly shorter than (69.60±4.35) minutes in ECCE group (both at P<0.001).There was no significant difference in age, sex, lens nucleus hardness and other baseline data among the three groups before operation (all at P>0.05).Three months after operation, the number of patients with higher uncorrected visual acuity in PHACO group and IOL protected PHACO group was larger than that in ECCE group ( P=0.006, 0.007).The ECD and 6A in IOL protected PHACO group were (2 155.57±177.88)/mm 2 and (41.31±5.18)%, respectively, which were significantly higher than (1 912.64±224.11)/mm 2 and (36.18±3.27)% in PHACO group, and the CV in IOL protected PHACO group was (50.34±5.90)%, which was lower than (55.67±3.30)% in PHACO group, showing statistically significant differences ( P=0.007, 0.003, 0.005).At 1 week and 3 months after the operation, the corneal astigmatism was significantly lower in IOL-protected PHACO group than in ECCE group, but higher than in PHACO group, and the difference were statistically significant (all at P<0.05). Conclusions:Compared with conventional PHACO, IOL-protected PHACO can effectively reduce the damage of corneal endothelium caused by ultrasonic energy, shorten the operation time and reduce postoperative inflammatory reaction compared with ECCE, and does not significantly increase postoperative corneal astigmatism.IOL-protected PHACO is an effective improved surgical method for patients with hard nucleus cataract.
5.A retrospective study on the evolution of TCM syndrome and TCM syndrome elements in the course of disease in 1,049 patients with psoriasis vulgaris
Jiayue WANG ; Ping LI ; Dongmei ZHOU ; Yanping BAI ; Xingwu DUAN ; Haibing LAN ; Yiding ZHAO ; Jingxia ZHAO ; Yan WANG ; Tingting DI ; Yujiao MENG ; Zhaoxia CHEN
Journal of Beijing University of Traditional Chinese Medicine 2024;47(10):1438-1448
Objective The study aimed to elucidate the evolution of the syndromes in Traditional Chinese Medicine(TCM)and TCM syndrome elements in different chronic stages of psoriasis vulgaris.Methods A database was constructed using electronic medical records collected from July 2019 to March 2024 from 1,049 patients with psoriasis vulgaris.The study used Sankey diagrams and network association graphs to analyze the evolution of TCM syndromes and their elements in patients at the different stages:initial diagnosis,progressive stage(Week 2-3),progressive stage(Week 4-5),skin lesion improvement stage(Week 6-7),and remission stage.The syndrome elements network was constructed using community detection algorithms,and the association rules between local skin lesion syndrome differentiation and overall syndrome differentiation were displayed using heatmaps.Results(ⅰ)Initial diagnosis.In the syndrome differentiation of local skin lesions,blood heat syndrome was the most common(79.79%);among the disease location of TCM syndrome elements(called"disease location"),liver was the most prevalent(35.62%);and among the pathological factors of TCM syndrome elements(called"pathological factors"),fire(heat)was the most common(75.48%).(ⅱ)Active stage(Week 2-3).In the syndrome differentiation of local skin lesions,blood heat syndrome remained the most prevalent(73.13%);among the disease location,liver was still the most prevalent(31.71%);and among the pathological factors,fire(heat)continued to be the most common(82.11%),while dampness(22.26%)and qi stagnation(8.39%)began to increase.(ⅲ)Active stage(Week 4-5).The syndrome differentiation of local skin lesions was dominated by blood heat syndrome(45.91%)and blood dryness syndrome(37.19%);among disease location,the interior was the most prevalent(15.25%);and among the pathological factors,fire(heat)remained the most common(50.66%),with an increase in yin deficiency(34.26%).(ⅳ)Skin lesion improvement stage(Week 6-7).In the syndrome differentiation of local skin lesions,both blood dryness syndrome(49.44%)and blood stasis syndrome(33.33%)increased;among the disease location,meridians increased most significantly and became the most prevalent(13.44%);and among the pathological factors,blood stasis increased most significantly and became the most prevalent(28.20%).(ⅴ)Remission stage.In the syndrome differentiation of local skin lesions,blood stasis syndrome became the primary(55.69%),while the percentage of blood dryness syndrome decreased(21.16%);meridians(25.71%)and blood stasis(62.34%)remained the most predominant syndrome elements related to disease location or pathological factors.Conclusion The overall pattern of TCM syndromes in psoriasis vulgaris evolved from excess to deficiency.From the initial diagnosis to the active phase(Week 2-3),heat syndrome dominated;during the active phase(Week 4-5),heat syndrome coexisted with damp syndrome or yin deficiency syndrome;changes in the syndrome element network were the most significant during the lesion improvement phase,with blood stasis gradually increasing and peaking during the remission phase.Blood stasis,dampness,and qi stagnation were pervasive throughout psoriasis vulgaris;qi stagnation and blood stasis may be the main elements causing further deterioration and prolonged course of the disease during the active phase in patients.
6.A cross-sectional study of renal injury in human immunodeficiency virus infection/acquired immunodeficiency syndrome patients after antiviral therapy in Henan Province
Xuan YANG ; Zhongfeng CUI ; Chaoyang LIU ; Lin ZHANG ; Quanxi LI ; Yujiao NIU ; Xue ZHANG ; Xiaohua ZHANG ; Zhaoyun CHEN ; Qiong LI ; Jinjin LIU ; Yan SUN
Chinese Journal of Infectious Diseases 2024;42(7):395-402
Objective:To understand the clinical characteristics of human immunodeficiency virus (HIV) infection/acquired immunodeficiency syndrome (AIDS) patients with renal injury after antiviral therapy in Henan Province, and to explore the risk factors of renal injury.Methods:A cross-sectional study was conducted to investigate HIV infection/AIDS patients receiving antiviral therapy in Zhengzhou Sixth People′s Hospital, Anyang Fifth People′s Hospital, Hebi Third People′s Hospital, Luo Yang Zhoushan Hospital and Lankao Central Hospital in Henan Province from April 1 to September 30, 2023. The clinical information including basic data, antiviral therapy regimens and comorbidities, and laboratory test results (blood urea nitrogen, serum creatinine, blood uric acid, urine routine, urine microalbumin, urine α 1-microglobulin (α 1-MG), urine β 2-microglobulin (β 2-MG), urine retinol binding protein (RBP), urine creatinine, HIV viral load, CD4 + T lymphocyte count) were collected. Multivariate binary logistic regression was used to analyze independent risk factors for renal injury. Results:A total of 2 526 HIV infection/AIDS patients were included, with the age of (45.52±14.28) years and 2 156 (85.4%) males. The main route of transmission was sexual transmission (91.6%, 2 314/2 526). The duration of antiviral therapy was 5.00(2.92, 8.00) years. Tenofovir (TDF)+ lamivudine (3TC)+ non-nucleoside reverse transcriptase inhibitors (NNRTI) accounted for 55.3%(1 396/2 526) of the current antiviral therapy regimen. The percentage of HIV viral load <50 copies/mL was 93.0%(2 350/2 526). The CD4 + T lymphocyte count was 476(337, 645)/μL. There were 156 patients (6.2%) complicated with hepatitis B and/or hepatitis C, 205 patients (8.1%) with diabetes, 379 patients (15.0%) with hyperlipidemia, and 189 patients (7.5%) with hyperuricemia. A total of 1 040 patients (41.2%) with renal injury were found through renal function test, including 355 cases (14.1%) with estimated glomerular filtration rate (eGFR) <60 mL/(min·1.73 m 2) or urine protein positive or urine albumin creatine ratio (UACR) ≥30 mg/g, 682 patients (27.0%) with pure tubular injury presented with only positive for urinary α 1-MG, urinary β 2-MG, or urinary RBP. eGFR< 60 mL/(min·1.73 m 2) was found in 71 cases (2.8%), eGFR from 60 to 89 mL/(min·1.73 m 2) was found in 509 cases (20.2%), and eGFR≥90 mL/(min·1.73 m 2) was found in 1 946 cases (77.0%). A total of 138 patients (5.5%) were identified as having combined chronic kidney disease (CKD). Among them, 110 patients (79.7%) were in CKD stages 1 to 2, and 117 patients (84.8%) were in urinary albumin A2 grade. Multivariate analysis of 355 patients with renal injury who had eGFR<60 mL/(min·1.73 m 2) or positive urine protein in urine routine or UACR ≥30 mg/g showed that ages of 50 to 69 years old (odds ratio( OR)=2.189, 95% confidence interval ( CI) 1.333 to 3.596, P=0.002)), ≥70 years old ( OR=5.190, 95% CI 2.912 to 9.248, P<0.001), female ( OR=1.685, 95% CI 1.241 to 2.286, P=0.001), combined opportunistic infection ( OR=2.521, 95% CI 1.567 to 4.056, P<0.001), combined hepatitis B ( OR=1.962, 95% CI 1.110 to 3.467, P=0.020), combined hepatitis C ( OR=1.883, 95% CI 1.043 to 3.400, P=0.036), combined diabetes ( OR=2.703, 95% CI 1.911 to 3.821, P<0.001), using TDF for two to four years ( OR=1.674, 95% CI 1.103 to 2.459, P=0.015), using TDF for greater than or equal to five years ( OR=1.880, 95% CI 1.287 to 2.746, P=0.001), using TDF combined with lopinavir/ritonavir (LPV/r) ( OR=3.610, 95% CI 2.273 to 5.734, P<0.001) and using TDF combined with non-LPV/r ( OR=1.495, 95% CI 1.036 to 2.157, P=0.031) were the risk factors of renal injury. Conclusions:There is a high proportion of renal injury among HIV infection/AIDS patients after antiviral therapy in Henan Province, including CKD and simple renal tubular injury. Older age, female, comorbidities, and long-term use of TDF are risk factors for renal injury.
7.Expert consensus on the prevention and control of intracranial hypertension in adult critical illness
The Critical Care Professional Committee of the Chinese Nursing Association ; Fang LIU ; Yujiao WANG ; Xiaobai CAO ; Lan GAO ; Songbai XU ; Yuanyuan MI ; Hong SUN ; Fengru MIAO ; Yan LI ; Hongyan LI
Chinese Journal of Nursing 2024;59(21):2606-2610
Objective The purpose of writing the"Expert consensus on the prevention and control of intracranial hypertension in adult critical illness"(here in after referred to as the"Consensus")aimed to standardize the nursing work related to the prevention and control of elevated intracranial pressure in adult critical illness,and prevent the occurrence of complications such as cerebral herniation.Methods Guided by evidence-based practice,domestic and foreign databases were searched for guidelines,expert consensuses,systematic evaluation,evidence summaries,and original research related to increased intracranial pressure.The search period is from database establishment to March 2024.The high-quality evidence and suggestions in the field was evaluated,extracted,and summarized to form a preliminary consensus.27 experts were invited to conduct 2 rounds of expert inquiry and 8 experts were invited to conduct 2 expert discussion meetings,to revise and improve the content of the initial draft,and to ultimately form a final consensus.Results The effective response rates for both rounds of inquiry questionnaires were 100%,with expert authority coefficients of 0.884,judgment coefficients of 0.964,and familiarity levels of 0.804.The Kendall harmony coefficients for 2 rounds of inquiry were 0.107 and 0.083(P<0.01),respectively.The consensus includes 4 aspects,including identification,monitoring,prevention and control strategies,emergency treatment and care for increased intracranial pressure.Conclusion This"Consensus"has strong scientific validity and can provide reference basis for nurses to carry out prevention and control of intracranial pressure increase.
8.Association between the non-rich-club connectivity synergism of brain structural network and the occurrence of post-stroke depression
Yujiao CAI ; Yang LI ; Kai XIE ; Yuhao XU ; Yan ZHU ; Yifeng LUO ; Zhihong CAO ; Yuefeng LI
Chinese Journal of Neurology 2024;57(5):481-487
Objective:To explore the association between changes in brain structural network during the early stage of stroke recovery and the onset of post-stroke depression (PSD).Methods:A total of 87 acute ischemic stroke patients scheduled for discharge, who were admitted to the Yixing Hospital Affiliated to Jiangsu University from March 2020 to May 2021, were prospectively collected. During the same period, 34 healthy control subjects matched with the stroke patients were also collected. All participants underwent systematic magnetic resonance imaging scans and scale assessments, and were followed up longitudinally for 2 years. Based on the occurrence of depression during follow-up, the stroke patients were divided into PSD group and post-stroke non-depression (PSND) group. Graph theoretical analysis was used to analyze the topological characteristics of brain structural network. Analysis of variance was used to explore the differences in brain structural network attributes among groups. Logistic regression model was used to analyze the predictive power of differential brain network attributes for PSD. Linear regression analysis was conducted to investigate the relationship between the synergism of non-rich-club regions and changes in rich-club connectivity.Results:The rich-club connectivity and synergism of the non-rich-club regions were significantly lower in the PSD group than in the PSND group (rich-club connectivity, P<0.01; synergism of feeder/local, P<0.001). The regression model demonstrated that the synergism of non-rich-club regions had a good predictive power for the occurrence of PSD ( OR=1.195, 95%CI 1.073-1.471, P<0.001). Furthermore, linear regression analysis revealed a significant correlation between the synergism of non-rich-club regions and Δrich-club connectivity ( r=-0.691, P<0.001). Conclusion:The good synergism of non-rich-club regions during the early stage of stroke recovery promotes the repair of rich-club connectivity and inhibits the onset of PSD.
9.Establishment of a rapid detection method for carbapenem and quinolone resistant nucleic acid colloidal gold test strips and development of a reagent kit
Beizhen PAN ; Jifei YANG ; Yuefeng WANG ; Yan LIU ; Yujiao ZHOU ; Yuhe MA ; Liyuan SUN
Chinese Journal of Immunology 2024;40(11):2386-2390,2398
Objective:To establish a method for rapid detection of OXA and par C resistance genes of Acinetobacter baumannii(Ab)by double nucleic acid colloidal gold strip and to develop kit.Methods:DNA of Ab was extracted by heating and boiling method.OXA and par C genes sequences of Ab were selected as target gene fragments based on NCBI.Primers were designed and labeled with 6-FAM,digoxin and biotin,respectively.Drug resistance gene detection reagents were developed,and nucleic acid gold test strips were used for rapid and visual detection.Molecular cloning and sequencing techniques were used to clone positive control samples and evaluate specificity,sensitivity and stability of kit.Results:DNA concentration and purity of Ab extracted by boiling method were good.Homology between cloned and sequenced plasmid DNA and gene sequence in GenBank database was 100%,respectively.Speci-ficity of kit was good,with only Ab showing positive results and other bacterial genera showing negative results;DNA concentration of Ab in double nucleic acid colloidal gold test strip decreased to 10-3 ng/μl,a red line still appeared,whose sensitivity was 10 times higher consistent with minimum detection limit of electrophoresis 10-2 ng/μl;test kits were tested at 3rd,6th and 9th months,and showed good stability.Conclusion:Double resistance detection kit established in this study can simultaneously detect OXA and par C resis-tance of Ab,who has advantages of high sensitivity,strong specificity,rapid and simple,and provides a new method for detection of carbapenem and quinolone antibiotic resistance of Ab.
10.Detection of ATP2C1 gene mutations in a family with generalized familial benign chronic pemphigus
Yujiao SUN ; Jianbo WANG ; Ziyu DUAN ; Jinfa DOU ; Yan LI ; Jianguo LI ; Shoumin ZHANG
Chinese Journal of Dermatology 2023;56(4):335-337
A 60-year-old female proband presented with recurrent erythema, blisters and erosions all over the body for 30 years, which had been aggravated 10 days prior to the presentation. Skin examination showed erythematous swelling of the bilateral eyelids with scattered dark red crusts, scattered erythema and erosions on the nasolabial folds and chin, large areas of erythema and erosions on the neck, bilateral axillae, left cubital fossa, perineum and perianal area, accompanied by bright red granulation tissues and positive Nikolsky′s sign. The proband had two sons, both of whom occasionally presented with erythema and erosions on the axillae and groin, and had not been diagnosed or treated. Blood samples were collected from the proband and her two sons, and genomic DNA was extracted and subjected to whole-exome sequencing. A heterozygous deletion mutation c.955_957del (p.A319del) was identified in the ATP2C1 gene in the proband and her two sons, which had not been previously reported. The patient was finally diagnosed with generalized familial benign chronic pemphigus.


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