Airway and anesthesia management in tracheoesophageal fistula closure implantation: a single-centre retrospective study.

OBJECTIVE: To review and analyze the airway and anesthesia management methods for patients who underwent endoscopic closure of tracheoesophageal fistula (TEF) and to summarize the experience of intraoperative airway management. METHOD: We searched the anesthesia information system of the First Affiliated Hospital of Nanjing Medical University for anesthesia cases of TEF from July 2020 to July 2023 and obtained a total of 34 anesthesia records for endoscopic TEF occlusion. The intraoperative airway management methods and vital signs were recorded, and the patients' disease course and follow-up records were analyzed and summarized. RESULTS: The airway management strategies used for TEF occlusion patients included nasal catheter oxygen (NCO, n = 5), high-flow nasal cannula oxygen therapy (HFNC, n = 4) and tracheal intubation (TI, n = 25). The patients who underwent tracheal intubation with an inner diameter of 5.5 mm had stable hemodynamics and oxygenation status during surgery, while intravenous anesthesia without intubation could not effectively inhibit the stress response caused by occluder implantation, which could easily cause hemodynamic fluctuations, hypoxemia, and carbon dioxide accumulation. Compared with those in the TI group, the NCO group and the HFNC group had significantly longer surgical times, and the satisfaction score of the endoscopists was significantly lower. In addition, two patients in the NCO group experienced postoperative hypoxemia. CONCLUSION: During the anesthesia process for TEF occlusions, a tracheal catheter with an inner diameter of 5.5 mm can provide a safe and effective airway management method.

Ferrous Sulfate-Mediated Control of Phytophthora capsici Pathogenesis and Its Impact on Pepper Plant.

Phytophthora capsici, a destructive fungal pathogen, poses a severe threat to pepper (Capsicum annuum L.) crops worldwide, causing blights that can result in substantial yield losses. Traditional control methods often come with environmental concerns or entail substantial time investments. In this research, we investigate an alternative approach involving ferrous sulfate (FeSO4) application to combat P. capsici and promote pepper growth. We found that FeSO4 effectively inhibits the growth of P. capsici in a dose-dependent manner, disrupting mycelial development and diminishing pathogenicity. Importantly, FeSO4 treatment enhances the biomass and resistance of pepper plants, mitigating P. capsici-induced damage. Microbiome analysis demonstrates that FeSO4 significantly influences soil microbial communities, particularly fungi, within the pepper root. Metabolomics data reveal extensive alterations in the redox metabolic processes of P. capsici under FeSO4 treatment, leading to compromised cell membrane permeability and oxidative stress in the pathogen. Our study presents FeSO4 as a promising and cost-effective solution for controlling P. capsici in pepper cultivation while simultaneously promoting plant growth. These findings contribute to a deeper understanding of the intricate interactions between iron, pathogen control, and plant health, offering a potential tool for sustainable pepper production.

Cross-Subject Emotion Recognition Brain-Computer Interface Based on fNIRS and DBJNet.

Functional near-infrared spectroscopy (fNIRS) is a noninvasive brain imaging technique that has gradually been applied in emotion recognition research due to its advantages of high spatial resolution, real time, and convenience. However, the current research on emotion recognition based on fNIRS is mainly limited to within-subject, and there is a lack of related work on emotion recognition across subjects. Therefore, in this paper, we designed an emotion evoking experiment with videos as stimuli and constructed the fNIRS emotion recognition database. On this basis, deep learning technology was introduced for the first time, and a dual-branch joint network (DBJNet) was constructed, creating the ability to generalize the model to new participants. The decoding performance obtained by the proposed model shows that fNIRS can effectively distinguish positive versus neutral versus negative emotions (accuracy is 74.8%, F1 score is 72.9%), and the decoding performance on the 2-category emotion recognition task of distinguishing positive versus neutral (accuracy is 89.5%, F1 score is 88.3%), negative versus neutral (accuracy is 91.7%, F1 score is 91.1%) proved fNIRS has a powerful ability to decode emotions. Furthermore, the results of the ablation study of the model structure demonstrate that the joint convolutional neural network branch and the statistical branch achieve the highest decoding performance. The work in this paper is expected to facilitate the development of fNIRS affective brain-computer interface.

A major QTL identification and candidate gene analysis of watermelon fruit cracking using QTL-seq and RNA-seq.

Fruit cracking decreases the total production and the commercial value of watermelon. The molecular mechanisms of fruit cracking are unknown. In this study, 164 recombinant inbred lines (RILs) of watermelon, derived from the crossing of the WQ1 (cracking-sensitive) and WQ2 (cracking-tolerant) lines, were sequenced using specific length amplified fragment sequencing (SLAF-seq). A high-density genetic linkage map was constructed with 3,335 markers spanning 1,322.74 cM, at an average 0.40 cM across whole-genome flanking markers. The cracking tolerance capacity (CTC), depth of fruit cracking (DFC), rind thickness (RT), and rind hardness (RH) were measured for quantitative trait locus (QTL) analysis. Of the four traits analyzed, one major QTL with high phenotypic variation (41.04%-61.37%) was detected at 76.613-76.919 cM on chromosome 2, which contained 104 annotated genes. Differential gene expression analysis with RNA sequencing (RNA-seq) data between the two parents identified 4,508 differentially expressed genes (DEGs). Comparison of the genes between the QTL region and the DEGs obtained eight coexisting genes. Quantitative real-time PCR (qRT-PCR) analysis revealed that these genes were significant differentially expressed between the two parents. These results provide new insights into the identification of QTLs or genes and marker-assisted breeding in watermelon.

Microstructure evolution and grain refinement of ultrasonic-assisted soldering joint by using Ni foam reinforced Sn composite solder.

In this investigation, ultrasonic-assisted soldering at 260 °C in air produced high strength and high melting point Cu connections in 60 s using Ni foam reinforced Sn composite solder. Systematically examined were the microstructure, grain morphology, and shear strength of connections made with various porosities of Ni foam composite solders. Results shown that Ni foams as strengthening phases could reinforce Sn solder effectively. The addition of Ni foam accelerated the metallurgical reaction due to great amount of liquid/solid interfaces, and refined the intermetallic compounds (IMCs) grains by ultrasonic cavitation. The joints had different IMCs by using Ni foam with different porosity. Layered (Cu,Ni)6Sn5 and (Ni,Cu)3Sn4 phases both existed in Cu/Ni60-Sn/Cu joint while only (Cu,Ni)6Sn5 IMCs grew in Cu/Ni98-Sn/Cu joint. As ultrasonic time increasing, Ni skeletons were dissolved and the IMCs were peeled off from substrates and broken into small particles. And then, the IMCs gradually dissociated into refined particles and distributed homogeneously in the whole soldering seam under cavitation effects. Herein, the Cu/Ni60-Sn/Cu joint ultrasonically soldered for 60 s exhibited the highest shear strength of 86.9 MPa, as well as a high melting point about 800 â„ƒ for the solder seam composed of Ni skeletons and Ni-Cu-Sn IMCs. The characterization indicated that the shearing failure mainly occurred in the interlayer of the soldering seam. The homogeneous distributed granular IMCs and Ni skeletons hindered the crack propagation and improved the strength of Cu alloy joints.

Application of case-based teaching method based on the Xuexitong learning platform in the online teaching of Digestive System / 中华医学教育探索杂志

This study explores the application effect of the case-based teaching method based on Xuexitong learning platform in the online teaching of Digestive System, and analyzes the learner's emotional experience, learning behavior, and learning effect in the case-based online teaching. The results of the study show that the case-based online teaching model based on Xuexitong learning platform improves students' online learning interest, and the students have good emotional experience, high learning enthusiasm, good classroom interaction, enhanced self-learning ability before and after class, and good learning effect. In addition, precise teaching can be used for individual students who are not enthusiastic about online learning.

Research progress in quality studies and antiviral effect of Qingyan Dropping Pills / 国际生物医学工程杂志

Qingyan Dropping Pills have the effects of relieving wind and heat, detoxifying, and promoting the pharynx. It is commonly used in traditional Chinese medicines to treat acute and chronic pharyngitis, as well as sore throats and dry throats caused by surgery. Recently, many studies have shown that Qingyan Dropping Pills have certain effects on bacteriostasis, anti-inflammatory, antioxidant, and antiviral activities. As the coronavirus disease 2019 (COVID-19) pandemic enters the post-epidemic era, the regular use of drugs for COVID-19 pandemic symptoms has become a new trend. Therefore, there is a good market prospect to explore and develop Chinese patent medicines with antiviral effects. A preliminary study on the herbal formula and material basis of Qingyan Dropping Pills revealed that they have potential for antiviral applications. In this paper, the research on the quality study and antiviral effect of Qingyan Dropping Pills was reviewed, and the research direction of its secondary development was discussed to provide ideas and references for the new use of old traditional Chinese medicines.

Efficacy of different frequency of intense pulsed light in the treatment of meibomian gland dysfunction / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the efficacy and safety of frequency of intense pulsed light(IPL)in the treatment of meibomian gland dysfunction.METHODS: In this retrospective study, a total of 108 patients(216 eyes)with meibomian gland dysfunction admitted to our hospital from January 2021 to June 2022 were included. They were divided into two groups, with 54 cases(108 eyes)IPL group(energy density 13.0J/cm2, pulse width 6ms, delay time 50ms), and 54 cases(108 eyes)in advanced optimal pulsed technology(AOPT)group(energy density 10.0-16.0J/cm2, pulse width 7-4-4 ms in unequal-division mode). The clinical effects of the two groups were observed and compared, including ocular surface symptoms, corneal fluorescein staining score(FL), tear film lipid layer thickness(LLT), ocular surface disease index(OSDI)score, mean non-invasive tear film break-up time(NIBUTav)and first non-invasive tear film break-up time(NIBUTf), tear meniscus height, score of meibomian gland secretion and its secretion traits, and the incidence of adverse effects was also calculated.RESULTS: The effective rate of the AOPT group(106 eyes, 98.1%)was higher than that of the IPL group(90 eyes, 83.3%, P<0.05), as well as OSDI score, FL score, score of meibomian gland secretion and its secretion traits, LLT NIBUTav, NIBUTf and tear meniscus height(all P<0.001). However, the incidence of adverse effects of the AOPT group(18 eyes, 16.7%)was higher than that of the IPL group(4 eyes, 3.7%; P<0.05).CONCLUSION: With significant improvement in the ocular surface symptoms and function, AOPT has a better therapeutic effect on the treatment of meibomian gland dysfunction, but it has more adverse reactions. Therefore, optimal treatment plan should be fully selected in combination with the actual clinical situation.

Network Analysis of Sleep Quality and Anxiety of First-Line Medical Staff in Epidemic Prevention / 中国医学伦理学

【Objective:】 To explore the network characteristics of sleep quality and anxiety in first-line medical staff fighting against COVID-19, further understand the relationship between sleep quality and anxiety, and provide basis for intervention. 【Methods:】 Using the convenient sampling method, this paper used the Pittsburgh Sleep Quality Index (PSQI) and Self Rating Anxiety Scale (SAS) to conduct a questionnaire survey on the front-line medical staff who fought against the epidemic during the COVID-19. Network analysis was used to construct sleep quality and anxiety network, and R language was used for statistical analysis and visualization. 【Results:】 In the network of sleep quality and anxiety of first-line medical staff fighting against COVID-19, "sleep disorder" and "sleep quality", "unfortunate premonition" and "inability to sit still", "syncope" and "hand and foot tingling" were highly related. "Fatigue", "dizziness" and "panic" had the highest expected influence. "Sleep quality", "sleep disorder" and "fatigue" had the highest bridge expected influence. The average predictability value of all nodes was 0.778. 【Conclusion:】 This paper used network analysis to explore the sleep quality and anxiety of first-line medical staff fighting against COVID-19 and found that there was a unique correlation path between them. Intervention against core symptoms can ameliorate anxiety and sleep problems to the great extent, and provide guidance for improving the physical and mental health.

Effects of dexmedetomidine on pulmonary function in patients receiving one-lung ventilation: a meta-analysis of randomized controlled trial / 대한마취과학회지

Background@#Mechanical ventilation, particularly one-lung ventilation (OLV), can cause pulmonary dysfunction. This meta-analysis assessed the effects of dexmedetomidine on the pulmonary function of patients receiving OLV. @*Methods@#The Embase, PubMed, MEDLINE, Cochrane Library, ClinicalTrials.gov, and Chinese Clinical Trial Registry databases were systematically searched. The primary outcome was oxygenation index (OI). Other outcomes including the incidence of postoperative complications were assessed. @*Results@#Fourteen randomized controlled trials involving 845 patients were included in this meta-analysis. Dexmedetomidine improved the OI at 30 (mean difference [MD]: 40.49, 95% CI [10.21, 70.78]), 60 (MD: 60.86, 95% CI [35.81, 85.92]), and 90 min (MD: 55, 95% CI [34.89, 75.11]) after OLV and after surgery (MD: 28.98, 95% CI [17.94, 40.0]) and improved lung compliance 90 min after OLV (MD: 3.62, 95% CI [1.7, 5.53]). Additionally, dexmedetomidine reduced the incidence of postoperative pulmonary complications (odds ratio: 0.44, 95% CI [0.24, 0.82]) and length of hospital stay (MD: −0.99, 95% CI [−1.25, −0.73]); decreased tumor necrosis factor-α, interleukin (IL)-6, IL-8, and malondialdehyde levels; and increased superoxide dismutase levels. However, only the results for the OI and IL-6 levels were confirmed by the sensitivity and trial sequential analyses. @*Conclusions@#Dexmedetomidine improves oxygenation in patients receiving OLV and may additionally decrease the incidence of postoperative pulmonary complications and shorten the length of hospital stay, which may be related to associated improvements in lung compliance, anti-inflammatory effects, and regulation of oxidative stress reactions. However, robust evidence is required to confirm these conclusions.

Effects of herbal cake-partitioned moxibustion on plasma trimethylamine, trimethylamine-N-oxide, and flavin-containing monooxygenase 3 in atherosclerotic rabbits / 针灸推拿医学（英文版）

Objective: To investigate the effects of herbal cake-partitioned moxibustion on the plasma levels of trimethylamine (TMA), trimethylamine-N-oxide (TMAO), and flavin-containing monooxygenase 3 (FMO3) in rabbits with atherosclerosis (AS), as well as to explore the possible mechanism of herbal cake-partitioned moxibustion in treating AS. Methods: After 1-week adaptive feeding, 28 male New Zealand rabbits were divided into a blank group, a model group, an antibiotic group, and a herbal cake-partitioned moxibustion group according to the random number table method, with 7 rabbits in each group. Rabbits were fed with a basic diet in the blank group, while with a basic diet plus 1％ choline in the remaining groups to prepare the AS model. Rabbits were given drinking water with broad-spectrum antibiotics in the antibiotic group, and herbal cake-partitioned moxibustion in the herbal cake-partitioned moxibustion group for 12 weeks. The atherosclerotic plaques by hematoxylin-eosin (HE) staining, the blood lipid levels, the plasma TMA and TMAO levels by liquid chromatography-mass spectrometry were detected for rabbits in each group at the end of interventions. Liver FMO3 protein expression was detected by Western blotting. Liver FMO3 mRNA expression was detected by real-time fluorescence quantitative polymerase chain reaction. Results: HE staining showed that the arterial wall was rough, the intima was significantly thickened, and more foam cells and lipid deposits were seen in rabbits of the model group. Arterial wall thickening was not obvious with a few foam cells and lipid deposits in the herbal cake-partitioned moxibustion group. Compared with the blank group, the serum levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) were increased (P<0.01), the plasma levels of TMA and TMAO were increased (P<0.05, P<0.01), and the expression levels of liver FMO3 protein and mRNA were all increased (P<0.05, P<0.01); while the serum high-density lipoprotein cholesterol (HDL-C) level was decreased in the model group (P<0.05). Compared with the model group, the LDL-C and TC levels were decreased (P<0.01 or P<0.05), the HDL-C levels were increased (P<0.01), the TMA and TMAO levels were decreased (P<0.05), while the protein and mRNA expression levels of FMO3 were decreased without statistical significance in the herbal cake-partitioned moxibustion group and the antibiotic group. Conclusion: Herbal cake-partitioned moxibustion can slow atherosclerotic plaque formation and regulate lipid levels in AS rabbits, and the mechanism may be related to the down-regulation of TMA and TMAO expression in the plasma.

Comparison of pretreatment techniques for single-cell RNA sequencing of airway aspirate specimens / 中华微生物学和免疫学杂志

Objective:To investigate the appropriate pretreatment methods for single cell RNA sequencing of airway aspirate cells.Methods:Four fresh airway aspirate specimens were collected from four patients with acute respiratory tract infections. These specimens were digested with airway aspirate digester and prepared into single cell suspension. The cells were used for library construction directly (DE), or fixed with 10×Genomics Chromium Next GEM Single Cell Fixed RNA Sample Preparation Kit and then mixed to construct the library (DF), or cryopreserved, thawed, fixed (FF) before mixed to construct the library. All three methods were treated with oil emulsion using 10 4 cells and subjected to single-cell sequencing using the 10×Genomics platform. The number of obtained cells, data quality, annotated cell types and expression of marker genes were analyzed. Differences in the expression of highly variable genes (HVGs) of the same cell subsets obtained by the three pretreatment methods were compared using Pearson correlation. Expression of the differentially expressed genes in the same cell subpopulation obtained by different pretreatment methods was also compared. The correlation of the expression of differentially expressed genes between the same cell subsets obtained by the three pretreatment methods was analyzed by Pearson correlation. Results:The median numbers of single cells obtained using DE, FF and DF methods were 2 733, 1 140 and 5 897 ( P>0.05). The unique molecular identifiers were higher than 500. The median numbers of genes obtained using the three methods were 801, 887 and 1 259 ( P>0.05). The cells with novelty score over 0.8 accounted for 99%, 87% and 93%, respectively. There were nine cell subsets obtained by the three methods, including squamous cells, secretory cells, ciliated cells, T cells, B cells, macrophages, plasma cells and neutrophils. DF and FF methods could obtain more basal cells with specific high expression of keratin 5 than DE method. The differentially expressed and highly variable genes in the same cell subsets obtained by the three pretreatment methods showed high consistency in their expression with a significant correlation ( P<0.001). Conclusions:Under the same sequencing data volume, the quality of data obtained from fixed airway aspirate single-cell suspensions using the method of probe hybridization and transcriptome sequencing was comparable to that obtained directly from fresh cells. This method was more suitable for the pretreatment of clinical samples used for single-cell RNA sequencing.

Application of the interleukin-23 inhibitor guselkumab in the treatment of psoriasis / 中华皮肤科杂志

Guselkumab is the first monoclonal antibody that selectively targets interleukin (IL) -23. Several randomized controlled clinical trials have demonstrated that it is highly effective and safe in the treatment of moderate to severe plaque psoriasis, and can significantly improve the quality of life of patients. This review summarizes the action mechanisms of IL-23 and guselkumab, as well as the application of guselkumab in the treatment of psoriasis.

Exogenous melatonin confers cold tolerance in rapeseed (Brassica napus L.) seedlings by improving antioxidants and genes expression.

Rapeseed (Brassica napus L.) is an important oilseed crop globally. However, its growth and production are significantly influenced by cold stress. To reveal the protective role of exogenous melatonin (MEL) in cold tolerance, rapeseed seedlings were pretreated with different concentrations of MEL before cold stress. The results indicated that the survival rate was increased significantly by the MEL pretreatment under cold stress. Seedlings pretreated with 0.01 g L-1 MEL were all survived and were used to analyze the physiological characteristics and the expression level of various genes related to cold tolerance. Under cold stress, exogenous MEL significantly increased the contents of proline, soluble sugar, and soluble protein; while the malondialdehyde content was decreased by exogenous MEL under cold stress. On the other hand, the activities of antioxidant defense enzymes such as catalase, peroxidase, and superoxide dismutase were also significantly enhanced. The results also showed that MEL treatment significantly upregulated the expression of Cu-SOD, COR6.6 (cold-regulated), COR15, and CBFs (C-repeat binding factor) genes under cold stress. It was suggested exogenous MEL improved the content of osmotic regulatory substances to maintain the balance of cellular osmotic potential under cold stress and improved the scavenging capacity of reactive oxygen species by strengthening the activity of antioxidant enzymes and the cold-related genes expression.

Corrigendum: Mutations in FIGLA associated with premature ovarian insufficiency in a Chinese population.

[This corrects the article DOI: 10.3389/fmed.2021.714306.].

A multi-population-based genomic analysis uncovers unique haplotype variants and crucial mutant genes in SARS-CoV-2

BackgroundCOVID-19 is a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Rigorous detection and treatment strategies against SARS-CoV-2 have become very challenging due to continuous evolutions to the viral genome. Therefore, careful genomic analysis is sorely needed to understand transmission, the cellular mechanism of pathogenicity, and the development of vaccines or drugs. ObjectiveIn this study, we intended to identify SARS-CoV-2 genome variants that may help understand the cellular and molecular foundation of coronavirus infections required to develop effective intervention strategies. MethodsSARS-CoV-2 genome sequences were downloaded from an open-source public database, processed, and analyzed for variants in target detection sites and genes. ResultsWe have identified six unique variants, G---AAC, T---AAC---T; AAC---T; C----C; C-------C; and C--------T at the nucleocapsid region and eleven major hotspot mutant genes: nsp3, surface glycoprotein, nucleocapsid phosphoprotein, ORF8, nsp6, nsp2, nsp4, helicase, membrane glycoprotein, 3-5 exonuclease, and 2-O-ribose methyltransferases. In addition, we have identified eleven major mutant genes that may have a crucial role in SARS-CoV-2 pathogenesis. ConclusionStudying haplotype variants and 11 major mutant genes to understand the mechanism of action of fatal pathogenicity and inter-individual variations in immune responses is inevitable for managing target patient groups with identified variants and developing effective anti-viral drugs and vaccines.

Strongyloides stercoralis and cytomegalovirus coinfection in a patient with a transplanted kidney.

Cytomegalovirus is a major opportunistic infection after transplantation with significant morbidity and mortality for solid organ transplant recipients. Unrecognized infection with Strongyloides stercoralis may result in significant morbidity and mortality in immunocompromised patients. Coinfection with multiple pathogens is possible, leading to diagnostic delays, and may make treatment more challenging. We report a case of coinfection with S. stercoralis and cytomegalovirus in a kidney transplant patient that resulted in pneumonitis, gastritis, and cholecystitis.

Significance of the dissection of common hepatic arterial lymph nodes in patients with oesophageal carcinoma: a multicentre retrospective study.

OBJECTIVES: To explore the significance of intraoperative common hepatic arterial lymph node dissection in patients with ooesophageal squamous carcinoma (ESCC) without coeliac trunk lymph node metastasis indicated by abdominal enhanced CT. METHODS: Patients aged 18-75 years who underwent oesophagectomy in three medical centres from June 2012 to June 2015, for whom R0 resection was completed and lymph node metastasis in the abdominal trunk was not identified before the operation were retrospectively analysed. The effects of the application value of common hepatic arterial lymph node dissection on survival were evaluated in patients with ESCC without coeliac trunk lymph node metastasis indicated by preoperative CT. According to the eighth version ofAmerican Joint Committee on Cancer (AJCC)/Union for International Cancer Control (UICC) staging, we selected patients with a Pathological Tumor Node Metastasis (pTNM) stage ranging from IA to IVA for analysis. RESULTS: Among the 816 qualified patients, 577 did not have coeliac trunk lymph node metastasis based on preoperative abdominal enhanced CT, and common hepatic arterial lymph node dissection was performed during the operation (observation group). Two hundred and thirty-nine preoperative CT examinations indicated no coeliac trunk lymph node metastasis, and common hepatic arterial lymph node dissection was not performed during the operation (control group). A multifactor Cox proportional hazards model showed no risk factors for overall survival (OS) (adjusted HR (HRadj)=0.91; p=0.404) or disease-free survival (DFS) (HRadj=0.86; p=0.179), regardless of whether common hepatic arterial lymph node dissection was performed. For patients with positive left gastric arterial lymph node metastasis, a multifactor Cox proportional hazards model indicated that common hepatic arterial lymph node dissection was a risk factor for OS (HRadj=0.63; p=0.035) and DFS (HRadj=0.58; p=0.026). CONCLUSIONS: For patients with ESCC without celiac trunk metastasis indicated by abdominal enhanced CT, common hepatic arterial lymph node dissection conferred no survival benefits. However, for patients with left gastric arterial lymph node metastasis, common hepatic arterial lymph node dissection was beneficial.

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.

Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. POI is one of the most common reproductive endocrine diseases in women of childbearing age. The present study investigated the clinical manifestations and genetic features of a Chinese patient affected by POI. Next­generation whole­exome capture sequencing with Sanger direct sequencing were applied to the proband and her clinically unaffected family members. Two novel compound heterozygous mutations were identified in PSMC3IP. The first was a splicing mutation (c.597+1G>T) that was inherited from her father, whereas the second mutation (c.268G>C p.D90H) was discovered in both her mother and younger sister. The two mutations were co­segregated with the disease phenotype in the family. In conclusion, the findings of the present study further support the key role of PSMC3IP in the etiology of POI and provide a novel insight into elucidating the mechanisms of female infertility.