1.Effect of red blood cell transfusion volume on postoperative oxygenation index during lung transplantation
Dapeng WANG ; Zhongping XU ; Xiaoshan LI ; Tao ZHOU ; Song WANG ; Hongyang XU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(01):72-78
Objective To investigate the impact of intraoperative red blood cell (RBC) transfusion volume on the postoperative oxygenation index in lung transplant recipients. Methods This retrospective study analyzed the clinical data of patients who underwent lung transplantation at Wuxi People's Hospital Affiliated to Nanjing Medical University from 2021 to 2023. Patients were divided into a non-severe primary graft dysfunction (PGD) group and a severe PGD group based on whether their postoperative oxygenation index was>200 mm Hg at 0, 24, and 48 h. General patient data and intraoperative RBC transfusion volumes were compared between the two groups. A binary logistic regression model was constructed to explore the effect size (OR and its 95%CI) of RBC transfusion volume on postoperative oxygenation status at different time points (0, 24, and 48 h). The area under the receiver operating characteristic curve was calculated to evaluate the model's diagnostic performance. Results A total of 351 patients were included (260 males, 91 females), with ages ranging from 20 to 77 years. The OR for the effect of intraoperative RBC transfusion on poor oxygenation was 1.486 (95%CI 0.982 to 2.248, P=0.061) at 0 h postoperatively, 3.111 (95%CI 1.793 to 5.399, P<0.001) at 24 h, and 1.583 (95%CI 1.026 to 2.442, P=0.038) at 48 h. This indicated that as time progressed, the postoperative oxygenation status of lung transplant recipients was affected by the intraoperative transfusion volume. Furthermore, an RBC transfusion volume>975 mLhad a significant impact on patient oxygenation at 24 and 48 h postoperatively. Conclusion The volume of intraoperative RBC transfusion has a significant impact on the oxygenation status at 24 and 48 h postoperatively. Intraoperative RBC transfusion volume is associated with the occurrence of severe PGD after lung transplantation. Controlling the volume of RBC transfusion during lung transplantation may help reduce the incidence of severe PGD.
2.Analysis of the efficacy of prone position ventilation combined with veno-venous extracorporeal membrane oxygenation in the treatment of severe primary graft dysfunction after lung transplantation
Dapeng WANG ; Chenglong LIANG ; Jinsong ZHU ; Tao ZHOU ; Zhongping XU ; Chunxiao HU ; Hongyang XU
Organ Transplantation 2025;16(6):898-906
Objective To explore the application effect of prone position ventilation combined with veno-venous extracorporeal membrane oxygenation (VV-ECMO) in the treatment of severe primary graft dysfunction (PGD) after lung transplantation. Methods The clinical data of 75 lung transplant recipients who developed severe PGD after lung transplantation and were treated with VV-ECMO from January 2021 to June 2024 at Wuxi People's Hospital Affiliated to Nanjing Medical University were collected. The patients with severe graft dysfunction after lung transplantation were divided into VV-ECMO group (control group, 45 cases) and prone position ventilation combined with VV-ECMO group (treatment group, 30 cases). The general data of the two groups of patients were compared, including the donors' clinical data (age, gender and oxygenation index, etc) and the recipients' clinical data [gender, age and body mass index (BMI), etc]. Cox regression analysis was used to analyze the influencing factors of the recipients' 30-day, 90-day and 180-day survival after surgery. The survival curves of the two groups of recipients were drawn using Kaplan-Meier method and compared using the log-rank test. Results The intensive care unit (ICU) stay time, ECMO application time and ventilator use time of control group were longer than those of treatment group. The proportion of male recipients and the BMI of control group were lower than those of treatment group. The 30-day, 90-day and 180-day survival of control group was worse than that of treatment group, and the differences were statistically significant (all P<0.05). The univariate Cox regression analysis of the recipients' 30-day survival after surgery showed that the recipients' BMI, history of diabetes, enlargement of the right atrium and right ventricle, intraoperative blood transfusion volume and intraoperative red blood cell transfusion volume were statistically significant (all P<0.05). The multivariate Cox regression analysis showed that the history of diabetes and enlargement of the right atrium and right ventricle were risk factors affecting the 30-day survival of lung transplant recipients (all P<0.05). The univariate Cox regression analysis of the recipients' 90-day survival after surgery showed that the recipients' BMI, history of diabetes, enlargement of the right atrium and right ventricle, intraoperative blood transfusion volume, intraoperative red blood cell transfusion volume and group variable were statistically significant (all P<0.05). The multivariate Cox regression analysis showed that the history of diabetes, enlargement of the right atrium and right ventricle and group variable were risk factors affecting the 90-day survival of lung transplant recipients (all P<0.05). The univariate Cox regression analysis of the recipients' 180-day survival after surgery showed that the recipients' BMI, history of diabetes, right atrium and right ventricle enlargement, intraoperative blood transfusion volume, intraoperative red blood cell transfusion volume and group variable were statistically significant (all P<0.05). The multivariate Cox regression analysis showed that the history of diabetes, enlargement of the right atrium and right ventricle and group variable were risk factors affecting the 180-day survival of lung transplant recipients (all P<0.05). The 30-day, 90-day and 180-day survival rates of control group were lower, and the differences between the two groups were statistically significant (all P<0.05), with a median survival time of 100 days in control group. Conclusions In the clinical treatment of severe PGD after lung transplantation, prone position ventilation combined with VV-ECMO may shorten ECMO application time, invasive ventilation time and ICU stay time, and improve the short-term prognosis of lung transplantation.
3.Suture anchor technique without knots for reconstruction of anterior talofibular ligament combined with reinforcement of inferior extensor retinaculum for treatment of chronic lateral ankle instability.
Dongchao LI ; Aiguo WANG ; Hongyang XU ; Qian ZHAO ; Jingmin HUANG
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(7):837-842
OBJECTIVE:
To investigate the effectiveness of the suture anchor technique without knots for reconstruction of the anterior talofibular ligament (ATFL) combined with the reinforcement of the inferior extensor retinaculum in treating chronic lateral ankle instability (CLAI).
METHODS:
The clinical data of 31 patients with CLAI who were admitted between August 2017 and December 2023 and met the selection criteria were retrospectively analyzed. There were 18 males and 13 females, with an age range from 20 to 48 years (mean, 34.6 years). All patients had a history of repeated ankle sprain, with a disease duration of 6-18 months (mean, 9.65 months). The anterior drawer test and inversion stress test were positive, and tenderness was present in the ligament area. Stress X-ray films of the ankle joint showed a talar tilt angle of (10.00±2.78)° and an anterior talar displacement of (9.48±1.96) mm on the affected side. MRI revealed discontinuity, tortuosity, or disappearance of the ATFL structure. Preoperatively, the visual analogue scale (VAS) score was 5.2±2.1, and the American Orthopaedic Foot and Ankle Society (AOFAS) score was 62.9±7.1. All patients underwent arthroscopic debridement of the ankle joint followed by reconstruction of the ATFL using the suture anchor technique without knots combined with reinforcement of the inferior extensor retinaculum. Postoperatively, pain and function were assessed using the VAS and AOFAS scores. Stress X-ray films were taken to measure the talar tilt angle and anterior talar displacement to evaluate changes in ankle joint stability. Patient satisfaction was assessed according to the Insall criteria.
RESULTS:
All 31 surgeries were successfully completed. One case had wound exudation, while the remaining surgical incisions healed by first intention. Two cases experienced numbness on the lateral aspect of the foot, which disappeared within 1 month after operation. All patients were followed up 15-84 months (mean, 47.2 months). No complication such as anchor loosening, recurrent lateral ankle instability, superficial peroneal nerve injury, rejection reaction, or wound infection occurred postoperatively. The anterior drawer test and inversion stress test were negative at 3 months after operation. Stress X-ray films taken at 3 months after operation showed the talar tilt angle of (2.86±1.72)° and the anterior talar displacement of (2.97±1.32) mm, both of which were significantly different from the preoperative values ( t=12.218, P<0.001; t=15.367, P<0.001). At last follow-up, 2 patients had ankle swelling after exercise, which resolved spontaneously with rest; all 31 patients returned to their pre-injury level of sports or had no significant discomfort in daily activities. At last follow-up, 25 patients were pain-free, 4 had mild pain after exercise, and 2 had mild pain after walking more than 2 000 meters. The VAS score was 0.8±0.9 and the AOFAS score was 91.6±4.1, both of which were significantly different from the preoperative scores ( t=10.851, P<0.001; t=-19.514, P<0.001). According to the Insall criteria, 24 patients were rated as excellent, 4 as good, and 3 as fair, with a satisfaction rate of 90.3%.
CONCLUSION
The suture anchor technique without knots for reconstruction of the ATFL combined with reinforcement of the inferior extensor retinaculum provides satisfactory short- and mid-term effectiveness in treating CLAI.
Humans
;
Male
;
Adult
;
Female
;
Joint Instability/surgery*
;
Lateral Ligament, Ankle/surgery*
;
Retrospective Studies
;
Middle Aged
;
Ankle Joint/diagnostic imaging*
;
Young Adult
;
Suture Anchors
;
Treatment Outcome
;
Suture Techniques
;
Plastic Surgery Procedures/methods*
;
Chronic Disease
;
Ankle Injuries/surgery*
4.Clinical characteristics and therapeutic effect analysis of blast-induced hearing loss.
Yang CAO ; Xiaonan WU ; Jin LI ; Hongyang WANG ; Qiuju WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(3):228-238
Objective:To investigate the clinical characteristics and treatment outcomes of patients with blast-induced hearing loss(BIHL). Methods:The clinical features, laboratory parameters, audiometric profiles, and treatment efficacy of patients with blast induced hearing loss and those with idiopathic sudden hearing loss(ISHL) were analyzed using t-tests, Wilcoxon rank-sum tests, and chi-square tests, with a significance level set at P<0.05. Results:A total of 59 patients in the BIHL group and 117 patients in the ISHL group were included in this study. The mean age of the BIHL group was(39.07±14.49) years, comprising 45 males and 14 females. After the blast, 21 patients went to the hospital within the initial 14-day period, and an additional 38 patients seeking admission thereafter. In the BIHL group, 33 patients had unilateral hearing loss with PTA of (50.30±28.85) dB HL, while 26 had bilateral hearing loss with a PTA of(44.54±26.22) dB HL. In comparison, among the ISHL group, 112 patients had unilateral hearing loss with a PTA of(56.28±14.19) dB HL, and 5 had bilateral involvement with a PTA of(56.25±35.14) dB HL. The effective treatment rate within 14 days for the BIHL group was 31.8%, while for the ISHL group, the effective rate within 14 days was 77.0%. Conclusion:Blast-induced hearing loss is caused by exposure to high-intensity noise. The overall treatment effectiveness during hospitalization is lower compared to idiopathic sudden hearing loss, and the treatment window is shorter. Therefore, greater emphasis should be placed on prevention.
Humans
;
Male
;
Female
;
Adult
;
Middle Aged
;
Young Adult
;
Blast Injuries/therapy*
;
Treatment Outcome
;
Hearing Loss, Sudden/etiology*
;
Adolescent
;
Hearing Loss, Noise-Induced/diagnosis*
5.Disrupting atherosclerotic plaque formation via the "qi meridian-blood channel": mechanism of Jiangzhi Huaban Decoction for regulating hepatic reverse cholesterol transport to improve atherosclerosis.
Hongyang WANG ; Wenyi ZHU ; Xushen CHEN ; Tong ZHANG ; Zhiwei CAO ; Jin WANG ; Bo XIE ; Qiang LIU ; Xuefeng REN
Journal of Southern Medical University 2025;45(9):1818-1829
OBJECTIVES:
To explore the molecular mechanism of Jiangzhi Huaban Decoction (JZHBD) for improving atherosclerosis through the "qi meridian-blood channels" pathway.
METHODS:
ApoE-/- mouse models of atherosclerosis were established by high-fat diet feeding for 8 weeks, with C57BL/6 mice on a normal diet as the controls. Forty ApoE-/- mouse models were randomized into model group, low-, medium-, and high-dose JZHBD treatment groups, and atorvastatin treatment group (n=8) for their respective treatments for 8 weeks. The changes in body weight and overall condition of the mice were monitored weekly. After the treatments, serum levels of TC, TG, HDL-C, LDL-C, TBA, ALT, and AST of the mice were measured, pathological changes in the liver and aortic root plaques were examined with HE staining, and lipid accumulation in the liver and aortic wall was assessed using Oil Red O staining. The core molecular mechanism was studied through transcriptomics, and the expressions of the key pathway proteins were confirmed using Western blotting and immunohistochemistry.
RESULTS:
Treatment with JZHBD significantly reduced blood lipid and total bile acid levels, improved liver function and hepatic steatosis, and decreased aortic lipid deposition and plaque area in the mouse models of atherosclerosis. Transcriptomic analysis suggested that the therapeutic mechanism of JZHBD involved reverse cholesterol transport, PPAR signaling, and the inflammatory pathways. In atherosclerotic mice, JZHBD treatment obviously up-regulated hepatic expressions of PPARγ, LXRα, ABCA1, ABCG1, and CYP7A1, down-regulated hepatic expressions of p-p65/p65, IL-6, IL1β in the liver, increased ABCG5 and ABCG8 expressions in the intestines, and decreased ICAM-1 and VCAM-1 expressions in the aortic plaques.
CONCLUSIONS
JZHBD improves atherosclerotic vascular damage and plaque formation possibly by regulating hepatic reverse cholesterol transport and inflammation via modulating the hepatic PPARγ/LXRα/NF-κB signaling pathway.
Animals
;
Drugs, Chinese Herbal/therapeutic use*
;
Mice, Inbred C57BL
;
Plaque, Atherosclerotic/metabolism*
;
Liver/metabolism*
;
Mice
;
Atherosclerosis/metabolism*
;
Cholesterol/metabolism*
;
PPAR gamma/metabolism*
;
Male
;
Diet, High-Fat
;
Biological Transport
6.Targeting 5-HT to Alleviate Dose-Limiting Neurotoxicity in Nab-Paclitaxel-Based Chemotherapy.
Shuangyue PAN ; Yu CAI ; Ronghui LIU ; Shuting JIANG ; Hongyang ZHAO ; Jiahong JIANG ; Zhen LIN ; Qian LIU ; Hongrui LU ; Shuhui LIANG ; Weijiao FAN ; Xiaochen CHEN ; Yejing WU ; Fangqian WANG ; Zheling CHEN ; Ronggui HU ; Liu YANG
Neuroscience Bulletin 2025;41(7):1229-1245
Chemotherapy-induced peripheral neurotoxicity (CIPN) is a severe dose-limiting adverse event of chemotherapy. Presently, the mechanism underlying the induction of CIPN remains unclear, and no effective treatment is available. In this study, through metabolomics analyses, we found that nab-paclitaxel therapy markedly increased serum serotonin [5-hydroxtryptamine (5-HT)] levels in both cancer patients and mice compared to the respective controls. Furthermore, nab-paclitaxel-treated enterochromaffin (EC) cells showed increased 5-HT synthesis, and serotonin-treated Schwann cells showed damage, as indicated by the activation of CREB3L3/MMP3/FAS signaling. Venlafaxine, an inhibitor of serotonin and norepinephrine reuptake, was found to protect against nerve injury by suppressing the activation of CREB3L3/MMP3/FAS signaling in Schwann cells. Remarkably, venlafaxine was found to significantly alleviate nab-paclitaxel-induced CIPN in patients without affecting the clinical efficacy of chemotherapy. In summary, our study reveals that EC cell-derived 5-HT plays a critical role in nab-paclitaxel-related neurotoxic lesions, and venlafaxine co-administration represents a novel approach to treating chronic cumulative neurotoxicity commonly reported in nab-paclitaxel-based chemotherapy.
Paclitaxel/toxicity*
;
Animals
;
Albumins/adverse effects*
;
Serotonin/metabolism*
;
Mice
;
Humans
;
Male
;
Female
;
Venlafaxine Hydrochloride/therapeutic use*
;
Neurotoxicity Syndromes/metabolism*
;
Middle Aged
;
Schwann Cells/metabolism*
;
Peripheral Nervous System Diseases/drug therapy*
;
Antineoplastic Agents
7.Microbial community mediated by microbial agents improves the quality of Epimedium pubescens Maxim.
Kunyang LAI ; Xiufu WAN ; Jiancai XIAO ; Hongyang WANG ; Shangxuan SHI ; Binbin YAN ; Chaogeng LYU ; Chengcai ZHANG ; Yufei ZHANG ; Feng YUAN ; Zhe ZHAO ; Shoudong ZHU ; Chuanzhi KANG ; Yan ZHANG
Science of Traditional Chinese Medicine 2025;3(3):270-281
Background: Optimizing cultivation techniques for traditional Chinese medicine has become a crucial means to improve the quality of medicinal materials. Microbial agents, as environmentally friendly and efficient plant growth promoters and soil conditioners, have increasingly attracted attention in eco-agriculture research. Objective: Our understanding remains limited regarding how the application of microbial agents, alone or in combination, affects changes in the rhizosphere microbiome and its association with the bioactive components of medicinal materials. Methods: In this study, Epimedium pubescens Maxim. was employed as a model plant to examine the effects of 2 microbial agents(Paenibacillus mucilaginosus and Bacillus subtilis) applied individually and in combination on plant growth and the accumulation of bioactive components. Additionally, this study explored the relationship between the rhizosphere microbiome and plant development. Results: The application of microbial agents increased the yield of E. pubescens leaves by 20.30% to 33.66% and enhanced the total flavonol glycosides content by 11.40% to 29.94%. Meanwhile, microbial treatments reshaped the rhizosphere microbiome, promoted the enrichment of beneficial microorganisms (e.g., Frankia and Paenibacillus), suppressed phytopathogenic fungi such as Didymella and Scytalidium, and enhanced the stability of the soil microbial co-occurrence network. The partial least squares path model suggested that microbial agents not only directly impact the quality of medicinal herbs but also indirectly alter the accumulation of bioactive components by modulating the soil microbiome. Conclusion: These findings deepen our understanding of the relationship between medicinal plant quality and rhizosphere microbiomes as mediated by microbial agents. They also provide a basis for designing and manipulating synthetic microbial communities to promote sustainable development in eco-agriculture.
8.Application of cochlear microphonics combined with otoacoustic emission in early differential and localization diagnosis of auditory neuropathy
Yuhan CHEN ; Hongyang WANG ; Danyang LI ; Ziyi CHEN ; Tao SHI ; Wei SHI ; Lan LAN ; Qiuju WANG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2025;60(9):1163-1171
Objective:The purpose of this study was to investigate the diagnostic value and clinical significance of cochlear microphonics (CM) combined with otoacoustic emission (OAE) in patients with auditory neuropathy (AN).Methods:The study included patients who were diagnosed with bilateral AN and had CM originating from both sides. The CM amplitude, latency, duration and intensity-amplitude (I/O) function curve were recorded by CM test. According to whether the distortion product otoacoustic emissions (DPOAE) passed through, the patients were divided into three groups: bilateral OAE passed group (OAE PP Group), bilateral OAE failed group (OAE RR Group), and unilateral OAE passed through one side failed group (OAE PR Group). OAE was elicited by four or more frequencies of 750-8 000 Hz. The characteristics of CM and its related influencing factors were analyzed, and data were processed and analyzed by SPSS 26.0 software. Results:(1) A total of 256 patients (512 ears) with AN were enrolled, including 161 patients (322 ears) in OAE PP group, 32 patients (64 ears) in OAE PR group and 63 patients (126 ears) in OAE RR group. OAE failed in 30.9% of patients with AN. (2) When the stimulation intensity was 100 dB nHL, the CM amplitude of OAE passing ear (OAE P+CM P group) in AN patients aged 3 years was 0.43±0.17μV, which was significantly higher than that of OAE not passing ear (OAE R+CM P group) (0.29±0.15) μV ( t=4.876, P<0.001). The CM duration of the OAE P+CM P group was (5.18±1.04) ms, which was longer than that of the OAE R+CM P group at 4.60±1.12 ms ( P=0.005). The I/O function curve of OAE P+CM P group showed a nonlinear trend, while, that of OAE R+CM P group showed a linear trend. (3) In the OAE P+CM P group of AN patients, the amplitude of CM was negatively correlated with the onset age, test age, disease course, PTA, and ASSR threshold ( P<0.001), with correlation coefficients of r=-0.475, r=-0.519, r=-0.367, r=-0.374, and r=-0.494, respectively. In the OAE R+CM P group of AN patients, the amplitude of CM was negatively correlated with the onset age, test age, and ASSR threshold ( P<0.05), with correlation coefficients of r=-0.271, r=-0.240, and r=-0.287, respectively. Conclusions:Excluding patients with high-frequency steeply sloping hearing loss, when ABR is absent or abnormal and OAE is absent, CM detection can reduce the rate of missed diagnosis of AN. The analysis of CM amplitude and I/O function curve is helpful to determine the lesion site of AN patients, which is convenient for early diagnosis and effective intervention.
9.Identification of key genes in cutaneous squamous cell carcinoma through bioinformatics analysis and validation via immunohistochemistry
Xiaoxiao LIU ; Fei WANG ; Dongmei YANG ; Luning REN ; Xue JIN ; Hongyang DU
Chinese Journal of Geriatrics 2025;44(5):621-627
Objective:To identify the key differentially expressed gene, BTF3, in cutaneous squamous cell carcinoma(cSCC)using bioinformatics methods and to preliminarily explore the potential mechanisms of BTF3 and its co-expressed genes in cSCC development. Methods:The cSCC-related datasets(GSE98767, GSE42677, GSE45164)were obtained from the Gene Expression Omnibus(GEO)database.Differential expression analysis revealed BTF3 as a significantly differentially expressed gene in cSCC.A BTF3-related co-expressed gene network was constructed and subjected to gene ontology(GO)enrichment analysis to investigate the biological processes, molecular functions, and cellular components that were significantly enriched.The study selected 60 paraffin-embedded tissue samples from the First Affiliated Hospital of Jinzhou Medical University, collected between 2020 and 2024.This cohort included 30 samples from cSCC patients and 30 samples from patients who underwent excision of melanocytic nevi.Immunohistochemical experiments were conducted to assess the expression of BTF3 in cSCC tissues.Additionally, single-sample gene set enrichment analysis(ssGSEA)was performed to assess the relevance of BTF3 to immune cells, and protein-protein interaction(PPI)analysis was employed to identify critical gene networks. Results:BTF3 was significantly overexpressed in cSCC, as confirmed by immunohistochemistry.The receiver operating characteristic(ROC)curve indicated that BTF3 exhibited moderate classification accuracy.Co-expression analysis revealed that positively correlated genes with BTF3 included EIF3E and HSPA14, while negatively correlated genes included SZRD1 and ARHGEF2.GO analysis demonstrated that BTF3 was enriched in biological processes such as glucose metabolism, signaling in response to deoxyribonucleic acid (DNA)damage, endogenous apoptotic signaling pathways, platelet morphogenesis, and platelet formation.Additionally, ssGSEA indicated a significant association of BTF3 with memory B cells and a notable correlation with low CD56-expressing natural killer cells. Conclusions:BTF3 is significantly overexpressed in cSCC and may represent a promising diagnostic and therapeutic target by influencing key gene networks and modulating the immune microenvironment.
10.Clinical and genetic analysis of a Chinese pedigree with autosomal recessive familial intrahepatic cholestasis type Ⅰ due to a novel variant of ATP8B1 gene
Zhimin WANG ; Haili QI ; Xiaojuan WEI ; Hualing DUAN ; Xiaohuan LI ; Hongyang QI
Chinese Journal of Medical Genetics 2025;42(5):608-612
Objective:To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation.Methods:A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241).Results:MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c. 1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c. 2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+ PM2_Supporting+ PM3+ PP1) and likely pathogenic (PM2_Supporting+ PM3+ PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.

Result Analysis
Print
Save
E-mail