Henan Provincial People's Hospital Research Articles

Wearable Patch ECG monitors and transesophageal electrophysiological study for diagnosing palpitations of unknown origin

ObjectiveTo analyze the application value of wearable adhesive Patch ECG monitors combined with transesophageal electrophysiological study (TEPS) in the diagnosis of palpitations of unknown origin.MethodsThis was a retrospective study of patients with suspected arrhythmia who were admitted to Henan Provincial People's Hospital between October 2021 and July 2023 due to recurrent paroxysmal palpitations of unknown origin, with or without accompanying symptoms such as dizziness, amaurosis, and syncope. All patients underwent TEPS. Those who did not exhibit arrhythmia during the TEPS were selected for Patch ECG monitoring, which lasted several weeks (depending on the duration of symptom capture). The results of TEPS, Patch ECG monitors, and clinical diagnoses were observed and recorded. Sensitivity, specificity, accuracy, positive predictive value, and negative predictive value (NPV) for diagnosing palpitations of unknown origins was analyzed based on clinical diagnostic outcomes for (1) TEPS alone, (2) Patch ECG monitoring in patients with negative TEPS results, and (3) the combination of both methods.ResultsA total of 569 patients were included in this study. The TEPS results exhibited that 227 of the 569 patients did not detect arrhythmias and 342 detected arrhythmias. Of the 569 patients, 102 refused to undergo Patch ECG monitors, and 467 patients completed the entire study process. Among them, 379 cases (66.61%) were clinically diagnosed as arrhythmias. TEPS shows good performance in most evaluation indices except NPV (69.60%, 95% CI, 61.54%–77.66%). The combined diagnosis was strongly consistent with clinical diagnosis. The accuracy, sensitivity, and NPV of TEPS combined with Patch ECG monitors in the diagnosis of palpitations of unknown origin were significantly higher than those of TEPS alone.ConclusionWearable adhesive patch ECG monitors combined with TEPS can enhance the diagnostic efficiency of palpitations of unknown origin.

Genetic analysis of a pedigree affected with Intellectual disability due to variants of two different genes

To explore the genetic etiology of a pedigree with intellectual disability and explore its pathogenesis. A Chinese pedigree which had presented at the Henan Provincial People's Hospital in March 2023 was selected as the study subject. Clinical data of the pedigree were collected, along with peripheral venous blood samples from its members. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing. Amniotic fluid was collected for prenatal diagnosis. This study was approved by the Medical Ethics Committee of the Henan Provincial People's Hospital (Ethics No. 2019-134). Both the proband (a 6-year-old male) and his mother (30 years old) had various degrees of intellectual and motor impairment. WES revealed that the proband has harbored a de novo heterozygous c.2563_2567dup (p.Lys856fs) variant of the UBE3A gene, while his mother, maternal grandmother and fetus had all harbored a novel heterozygous c.409+1G>A variant of the RNF13 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS1+PS1+PM2_Supporting; PVS1+PM2_Supporting+PP3). Based on the clinical manifestations and the result of genetic testing, the heterozygous c.2563_2567dup (p.Lys856fs) variant of the UBE3A gene probably underlay the intellectual disability and developmental delay in the proband, whilst the heterozygous c.409+1G>A variant of the RNF13 gene may underlie the intellectual disability in the proband's mother and grandmother. Above results have enabled genetic counseling and prenatal diagnosis for this pedigree.

Establishment and validation of a predictive model for postoperative pulmonary complications in elderly patients undergoing non-cardiac surgery

Objective: To develop and validate a predictive model for postoperative pulmonary complications (PPCs) in elderly patients undergoing non-cardiac surgery. Methods: This retrospective study included 51 354 elderly patients over 65 years old who underwent non-cardiac surgery at the First Medical Center of Chinese PLA General Hospital from January 2009 to December 2018. The patients were randomly divided into a modeling group [n=41 084; 21 550 males, 19 534 females; age: 70 (67, 74) years] and an internal validation group [n=10 270; 5 458 males, 4 812 females; age: 70 (67, 74) years] at a ratio of 4∶1. Additionally, an external validation group of 14 378 patients [7 893 males, 6 845 females; age: 70 (67, 75) years] who underwent non-cardiac surgery at Henan Provincial People's Hospital between November 2014 and May 2022 was retrospectively included. Multivariate logistic regression were performed to identify factors associated with PPCs. A nomogram prediction model was constructed based on these factors and validated internally and externally. The model's performance and clinical applicability were assessed using receiver operating characteristic (ROC) curves, calibration curves, and decision curves. Results: Among the 51 354 elderly patients underwent general anesthesia for non-cardiac surgery, the incidence of PPCs was 17.5% (9 008/51 354). Multivariate logistic regression analysis reveals that anesthesia duration 130-<183 min (OR=1.858, 95%CI: 1.529-2.266), anesthesia duration 183-<250 min (OR=2.537, 95%CI: 2.079-3.108), anesthesia duration≥250 min(OR=3.533, 95%CI: 2.868-4.368), crystalloid infusion volume 1 400-<2 000 ml (OR=1.481, 95%CI: 1.204-1.829), crystalloid infusion volume 2 000-<9 000 ml (OR=1.776, 95%CI: 1.426-2.220), upper abdominal surgery (OR=1.658, 95%CI: 1.498-1.835), malignancy (OR=1.796, 95%CI: 1.606-2.012), fentanyl dosage 0.40-<0.55 mg (OR=1.404, 95%CI: 1.203-1.640), fentanyl dosage≥0.55 mg (OR=1.601, 95%CI: 1.386-1.854), prophylactic use of antibiotics (OR=7.897, 95%CI: 5.124-12.983), age (OR=1.039, 95%CI: 1.030-1.049), smoking (OR=1.124, 95%CI: 1.014-1.246), preoperative chest X-ray abnormalities (OR=2.139, 95%CI: 1.820-2.509) and intraoperative hypotension (OR=3.184, 95%CI: 2.120-4.795) were risk factors for PPCs, while elective surgery (OR=0.301, 95%CI: 0.220-0.417) was a protective factor. The nomogram model incorporating these factors had an area under the curve (AUC) of 0.757 (95%CI: 0.748-0.766, P=0.309) in the modeling group, 0.779 (95%CI: 0.760-0.796, P=0.171) in the internal validation group, and 0.778 (95%CI: 0.763-0.792, P<0.001) in the external validation group. Calibration curves and decision curves demonstrated good consistency and benefit of the model. Conclusion: The nomogram model which based on anesthesia duration, crystalloid infusion volume, upper abdominal surgery, malignancy, fentanyl dosage, prophylactic use of antibiotics, age, smoking, preoperative chest X-ray abnormalities, intraoperative hypotension and elective surgery provides strong predictive value and clinical utility for assessing the risk of PPCs in elderly patients undergoing non-cardiac surgery.

Impact of progesterone concentration on hCG trigger day on clinical outcomes with cleavage-stage embryo transfer in in vitro fertilization cycles with an antagonist protocol

Objective: To investigate the impact of the progesterone concentration on human chorionic gonadotropin (hCG) trigger day in fresh cycles versus thawed transfer cycles (the freeze-all strategy) with an antagonist protocol, and to compare the differences in clinical outcomes. Methods: This retrospective cohort study included a total of 2 165 cycles conducted at Henan Provincial People's Hospital with cleavage-stage embryo (at least one top-quality) transfer between January 2017 and December 2023, with serum progesterone levels on hCG trigger day all≤6.34 nmol/L (i.e. 2 ng/ml). Multivariate logsitic regression analysis and curve fitting were performed based on different serum progesterone levels on hCG trigger day [≤3.17 nmol/L (i.e. 1 ng/ml) or 1-2 ng/ml]. Results: Multivariate regression analysis, by using cycle type (either fresh or frozen-thawed cycle) as the exposure variable, showed that the clinical pregnancy rate (≤1 ng/ml: OR=0.93, 95%CI: 0.75-1.14; 1-2 ng/ml: OR=1.05, 95%CI: 0.58-1.87) and live birth rate (≤1 ng/ml: OR=0.90, 95%CI: 0.71-1.13; 1-2 ng/ml: OR=1.53, 95%CI: 0.79-3.00) had no statistically significant differences in group of progesterone concentration ≤1 ng/ml or in group of 1-2 ng/ml. Using serum progesterone levels on hCG trigger day as a continuous variable for curve fitting analysis, the clinical pregnancy rate in fresh or thawed cycles showed no significant changes with increasing progesterone levels. Conclusions: In the antagonist protocol with cleavage-stage embryo transfer (at least one top-quality), when the serum progesterone level on hCG day is ≤2 ng/ml, there are no significant differences in clinical outcomes between thawed cycles and fresh cycles, including clinical pregnancy rate and live birth rate. Transferred in fresh cycles or choosing the freeze-all strategy could be selected based on the actual situation of the patients.

Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms and five related serum molecular levels in 2587 patients: Associated differentially with adverse pregnancy.

The aim of the study is to investigate the relationship between Methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) polymorphisms, 5 serum related molecular levels and the risk of adverse pregnancies in different genders. Patients aged from 22 to 38 with a history of adverse pregnancy treated in our genetic eugenics clinic of Henan Provincial People's Hospital are selected. The controls aged from 20 to 34 undergoing eugenics examinations in our genetic eugenics clinic that had no history of adverse pregnancy and at least one healthy child are selected. Sanger sequencing and Chemiluminescence Microparticle Immuno Assay (CMIA) are used for detecting the mutations of MTHFR and MTRR and the 5 serum molecular serum levels. In the female group, MTHFR 677C > T is associated with Recurrent spontaneous abortion (RSA) (P = 0.0017), Chromosomal abnormality (CA) (P = 0.0053), Cleft lip and palate (CLP) (P = 0.0326) and Brain dysplasia (BD) (P = 0.0072); MTHFR 1298A > C is associated with Infertility (P = 0.0026) and BD (P = 0.0382); MTRR 66A > G is associated with CLP (P = 0.0131). In the male group, MTHFR 677C > T is associated with RSA (P = 0.0003), Infertility (P = 0.0013), CA (P = 0.0027) and BD (P = 0.0293). In the female group, the genotype of MTHFR 677C > T is associated with RSA (P = 0.0017), CA (P = 0.0014) and BD (P = 0.0021); MTHFR 1298A > C is associated with Infertility (P = 0.0081) and MTRR 66A > G is associated with Infertility (P = 0.0309). In the male group, the genotype of MTHFR 677C > T is associated with RSA (P = 0.0008), Infertility (P = 0.0096) and CA (P = 0.0165) and MTRR 66A > G is associated with Infertility (P = 0.0158) and congenital heart disease (CHD) (P = 0.0218). In the male group, there is statistically significant difference of the serum Homocysteine (Hcy) levels (P < 0.0001) between adverse pregnancy group and controls.In the female group,there is statistically significant difference of the serum vitamin D levels (P = 0.0015) between adverse pregnancy group and controls. Polymorphic variants in MTHFR and MTRR, serum Folic acid (FA), Hcy and B12 levels in the male group and vitamin D levels in the female group are associated differentially with adverse pregnancy.

A Preliminary Study Using High‐Frequency Ultrasound to Evaluate Vulvar Skin With Lichenoid Vulvar Dermatoses

ABSTRACTBackgroundLichenoid vulvar dermatoses (LVD) are inflammatory diseases primarily affecting the vulva and anus. This study aims to evaluate the skin changes in patients with LVD using high‐frequency ultrasound.MethodsForty‐five patients with LVD, who attended Henan Provincial People's Hospital from November 2021 to March 2024, were selected. According to the pathological conclusions, patients were divided into two groups: the vulvar lichen sclerosus (VLS) group (n = 24) and the vulvar lichen simplex chronicus (VLSC) group (n = 21). Thirty age‐ and BMI‐matched healthy women were selected as the control group. We assessed the epidermal thickness, subepidermal low echogenic band (SLEB) thickness, dermal thickness, and vascular index (VI) among the three groups. Receiver operating characteristic curve (ROC) analysis was performed to determine the diagnostic efficacy of these ultrasound parameters for LVD. Binary logistic regression was used to investigate risk factors influencing LVD pathology in VLS patients.ResultsEpidermal thickness, SLEB thickness, dermal thickness, and VI were increased in the VLS and VLSC groups compared to the control group (p &lt; 0.05). There were no statistically significant differences in ultrasound parameters between the VLS and VLSC groups (p &gt; 0.05). The ROC curves showed that the area under the curve (AUC) value for the dermis (AUC = 0.882) was the largest for VLS, and VI (AUC = 0.917), it was the largest for VLSC. Binary logistic regression indicated that having an allergic disease was a risk factor for VLS between VLS and VLSC groups (OR = 6.797, p = 0.028).ConclusionHigh‐frequency ultrasound can detect thickening of the skin and increasing VI in patients with LVD, which can be helpful in the evaluation and management of LVD.

Diagnostic and prognostic value of serum Cys-C, retinol-binding protein, and ischemia-modified albumin in patients with coronary heart disease: A diagnostic accuracy study.

The use of 3 biomarkers - cystatin-C (Cys-C), retinol-binding protein (RBP), and ischemia-modified albumin (IMA) - for the clinical classification and outcome of coronary heart disease (CHD) has not been adequately evaluated. We explored the serum levels of these 3 markers and evaluated their diagnostic and prognostic values in patients with CHD. This retrospective case-control study, conducted between June 2017 and June 2018, included 201 patients with CHD hospitalized at the Henan Provincial People's Hospital and 127 healthy individuals from Henan Provincial People's Hospital as controls. Cys-C, RBP, IMA levels, and other laboratory parameters in the 2 groups were determined, and patient outcomes were analyzed. Cys-C, RBP, and IMA levels were higher in the case group than in the control group (P < .05). Logistic regression analysis confirmed that these 3 biomarkers were independent risk factors for CHD. Each indicator has clinical significance in the diagnosis and prognosis of CHD, with RBP being the most significant. The AUC value for CHD detection using a combination of the 3 indicators was 0.783, and the sensitivity and specificity values were 78% and 74.6%, respectively. Simultaneous detection of Cys-C, RBP, and IMA could be an optimal method for early diagnosis and prognosis of CHD.

Clinical predictive value of pre-pregnancy tests for unexplained recurrent spontaneous abortion: a retrospective study.

Early prediction and intervention are crucial for the prognosis of unexplained recurrent spontaneous abortion (uRSA). The main purpose of this study is to establish a risk prediction model for uRSA based on routine pre-pregnancy tests, in order to provide clinical physicians with indications of whether the patients are at high risk. This was a retrospective study conducted at the Prenatal Diagnosis Center of Henan Provincial People's Hospital between January 2019 and December 2022. Twelve routine pre-pregnancy tests and four basic personal information characteristics were collected. Pre-pregnancy tests include thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine thyroid (FT4), thyroxine (TT4), total triiodothyronine (TT3), peroxidase antibody (TPO-Ab), thyroid globulin antibody (TG-Ab), 25-hydroxyvitamin D [25-(OH) D], ferritin (Ferr), Homocysteine (Hcy), vitamin B12 (VitB12), folic acid (FA). Basic personal information characteristics include age, body mass index (BMI), smoking history and drinking history. Logistic regression analysis was used to establish a risk prediction model, and receiver operating characteristic (ROC) curve and decision curve analysis (DCA) were employed to evaluate the performance of prediction model. A total of 140 patients in uRSA group and 152 women in the control group were randomly split into a training set (n = 186) and a testing set (n = 106). Chi-square test results for each single characteristic indicated that, FT3 (p = 0.018), FT4 (p = 0.048), 25-(OH) D (p = 0.013) and FA (p = 0.044) were closely related to RSA. TG-Ab and TPO-Ab were also important characteristics according to clinical experience, so we established a risk prediction model for RSA based on the above six characteristics using logistic regression analysis. The prediction accuracy of the model on the testing set was 74.53%, and the area under ROC curve was 0.710. DCA curve indicated that the model had good clinical value. Pre-pregnancy tests such as FT3, FT4, TG-Ab, 25-(OH)D and FA were closely related to uRSA. This study successfully established a risk prediction model for RSA based on routine pre-pregnancy tests.

Analysis of 14 cases of sarcoidosis of head and neck

Objective:To explore the clinical characteristics of sarcoidosis of head and neck symptoms, and to summarize the diagnosis and treatment experience. Methods:A retrospective study was conducted on patients with nodular disease with main symptoms in the head and neck who visited Henan Provincial People's Hospital from January 2020 to August 2023. The clinical data including symptom characteristics, pathological characteristics, treatment methods, and prognosis were analyzed. Results:A total of 14 patients were included, with 4 males（28.6%） and 10 females（71.4%）, age ranged from 11 to 71 years, with an average age of（52.0±15.8） years. The lesions were located in the parotid gland in 2 cases and the neck in 12 cases. Twelve cases underwent neck mass resection surgery, and 2 cases underwent ultrasound-guided core biopsy of parotid gland tumor and postoperative pathological diagnosis was confirmed in all cases. Four cases received steroid treatment postoperatively, and showed good prognosis with reduced lesion size after 3 months. Three cases did not take medication and the lesions continued to persist, causing discomfort. Seven cases did not take medication postoperatively, and the lesions expanded with multi-organ progression. Conclusion:Patients with head and neck sarcoidosis are rare in clinical practice, and it is prone to misdiagnosis and missed diagnosis. Steroid therapy can achieve good therapeutic effects.

Gastric Bezoars: A Retrospective Analysis of 44 Cases.

BACKGROUND Gastric bezoars are a relatively rare condition. We aim to summarize the clinical characteristics and endoscopic features of patients with gastric bezoars, and analyze the treatment process. MATERIAL AND METHODS The medical records of 44 patients with gastric bezoars treated at Henan Provincial People's Hospital from September 2017 to December 2023 were retrospectively reviewed. RESULTS Among the 44 patients, there were 20 males and 24 females. The average age was 55.36±15.17 years. Abdominal pain was the primary symptom in patients with gastric bezoars. Single gastric bezoars were more common than multiple ones, accounting for 86.4% of all cases. Endoscopic examination revealed ulcers in 36 (81.8%) patients, mainly at the gastric angle and antrum. Single ulcers were more common than multiple ulcers, with most ulcer diameters being less than 2 cm. The occurrence of ulcers was not significantly related to patient age or the size of the bezoars. Endoscopic examination confirmed complete clearance of gastric bezoars in 30 patients. In the 26 patients treated successfully under endoscopy, the number of endoscopic treatments ranged from 1 to 4, with an average of 1.27 interventions per patient. The interval for the second endoscopic re-examination ranged from 2 to 6 days, with an average of 3.87±1.22 days. CONCLUSIONS The most common type of gastric bezoar is phytobezoars. There is a close association between ulcer formation and gastric bezoars. Endoscopic therapy combined with oral treatment can effectively treat gastric bezoars. Most patients require only 1 endoscopic treatment to be successful. The appropriate interval for a follow-up endoscopy after the first endoscopic treatment is around 4 days.

Clinical curative effect of enteroscopic stent implantation combined with laparoscopy in patients with colorectal cancer and intestinal obstruction

To explore the clinical curative effect of enteroscopic stent implantation combined with laparoscopy in patients with colorectal cancer and intestinal obstruction. A retrospective analysis was performed on the data of patients with colorectal cancer and intestinal obstruction in Gastrointestinal Surgery of Henan Provincial People's Hospital between November 2019 and October 2020. Among patients, there were 46 cases in traditional group (laparotomy+intraoperative intestinal irrigation), 42 cases in stent-laparotomy group (enteroscopic stent implantation+laparotomy), and 41 cases in stent-laparoscopy group (enteroscopic stent implantation+laparoscopy). The perioperative situation, levels of biochemical indexes, peripheral serum carcinoembryonic antigen (CEA) and carbohydrate antigen 199 (CA199), and prognosis were compared among the three groups. The results showed that among the three groups, operation time [(203.6±30.5) min] was longer, postoperative exhaust time [(1.2±0.3) d] and length of hospital stay [(10.5±2.1) d] were shorter, and intraoperative blood loss [(102.5±22.3) ml] was less in stent-laparoscopy group (all P values<0.05). The incidence of postoperative complications in stent-laparoscopy group was lower than that in traditional group (4.8% vs 21.7%, P<0.05). At 1 day after surgery, EOS was decreased, while PLT and CRP were increased in all three groups. Compared with traditional group and stent-laparotomy group after surgery, EOS was increased, while PLT and CRP were decreased in stent-laparoscopy group [EOS: (4.2±0.2) % vs (3.6±0.3) % vs (3.9±0.2) %; PLT: (259.6±11.4)×109/L vs (294.4±11.5)×109/L vs (271.7±10.7)×109/L; CRP: (8.8±2.0) vs (16.4±2.2) vs (14.9±2.3) ng/L; P<0.05]. At 3 months after surgery, levels of serum CEA and CA199 were decreased in the three groups. There was no significant statistical difference in serum CEA or CA199 among the three groups. During 3 years of follow-up, there was no significant statistical difference in postoperative recurrence rate or incidence of postoperative metastasis among the three groups. The study indicated that enteroscopic stent implantation combined with laparoscopy was more advantageous in terms of reducing intraoperative blood loss, accelerating recovery of postoperative exhaust function, relieving surgical stress and reducing the incidence of postoperative complications, which could decrease levels of serum CEA and CA199.

Automatic segmentation of spine x-ray images based on multiscale feature enhancement network.

Automatic segmentation of vertebrae in spinal x-ray images is crucial for clinical diagnosis, case analysis, and surgical planning of spinal lesions. However, due to the inherent characteristics of x-ray images, including low contrast, high noise, and uneven grey scale, it remains a critical and challenging problem in computer-aided spine image analysis and disease diagnosis applications. In this paper, a Multiscale Feature Enhancement Network (MFENet), is proposed for segmenting whole spinal x-ray images, to aid doctors in diagnosing spinal-related diseases. To enhance feature extraction, the network incorporates a Dual-branch Feature Extraction Module (DFEM) and a Semantic Aggregation Module (SAM). The DFEM has a parallel dual-branch structure. The upper branch utilizes multiscale convolutional kernels to extract features from images. Employing convolutional kernels of different sizes helps capture details and structural information at different scales. The lower branch incorporates attention mechanisms to further optimize feature representation. By modeling the feature maps spatially and across channels, the network becomes more focused on key feature regions and suppresses task-irrelevant information. The SAM leverages contextual semantic information to compensate for details lost during pooling and convolution operations. It integrates high-level feature information from different scales to reduce segmentation result discontinuity. In addition, a hybrid loss function is employed to enhance the network's feature extraction capability. In this study, we conducted a multitude of experiments utilizing dataset provided by the Spine Surgery Department of Henan Provincial People's Hospital. The experimental results indicate that our proposed MFENet demonstrates superior segmentation performance in spinal segmentation on x-ray images compared to other advanced methods, achieving 92.61±0.431 for MIoU, 92.42±0.329 for DSC, and 99.51±0.037 for Global_accuracy. Our model is able to more effectively learn and extract global contextual semantic information, significantly improving spinal segmentation performance, further aiding doctors in analyzing patient conditions.

Association between liver fat level and risk of hypertension: evidence from a Chinese health examination dataset.

Hypertension development is predominantly influenced by inflammation, excessive fat deposition, and metabolic irregularities. Among these factors, liver fat accumulation is a critical metabolic disorder. However, the quantification of liver fat levels and its associated risk for hypertension incidence remain ambiguous. This project is designed to explore the association between liver fat levels and the risk of hypertension in a healthy population. This cross-sectional study involved 4955 participants from the Health Management Center at Henan Provincial People's Hospital who were surveyed between February 2020 and February 2023. Participants were categorized into four groups based on liver fat quartiles. Subgroup analyses, restricted cubic spline regression models, and logistic regression were utilized to assess the association between liver fat levels and hypertension risk. The relationships between liver fat levels and inflammatory markers were examined using multiple linear regression models. Additionally, a mediation analysis was conducted to explore the role of inflammatory factors in the relationship between liver fat and hypertension risk. Participants with hypertension exhibited greater liver fat levels than did those without hypertension. An increased risk of hypertension was associated with elevated liver fat levels, even after adjusting for other covariates [Q4 vs. Q1 in model II: odds ratio (OR = 1.28), 95% confidence interval (CI) = 1.04-1.59, P = 0.022; P for trend = 0.039]. A nonlinear relationship was observed between liver fat level and hypertension risk, with a notable increase in hypertension risk occurring at liver fat levels greater than 8.65%. Additionally, a positive correlation was found between inflammatory markers and liver fat levels. A mediation effect of 4.76% was noted, linking hypertension risk and liver fat levels through neutrophils. Liver fat levels exceeding 8.65% significantly elevated the risk of hypertension. Inflammatory factors serve as crucial mediators of the relationship between liver fat and hypertension.

Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene

To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome. A patient who had presented at the Henan Provincial People's Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis. WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c.853del (p.Ala285Leufs*24) and c.1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c.853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c.1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PP4). The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.

The Value of sFLC and Serum Calcium in the Diagnosis and Prognosis of Multiple Myeloma Patients

To investigate the value of serum free light chain (sFLC) and serum calcium ion in the diagnosis and prognosis of multiple myeloma (MM). Forty patients with MM treated in Henan Provincial People's Hospital from January 2018 to January 2022 were selected as the observation group, and 40 healthy volunteers were selected as the control group. The differences of sFLC-κ、sFLC-λ、sFLC-κ/λ, serum calcium ions, etc between the two groups were compared. Meanwhile, the differences of sFLC-κ、sFLC-λ、sFLC-κ/λ, serum calcium ions, etc in different international staging systems (ISS), chemotherapy efficacy and prognosis patients were analyzed. The levels of sFLC-κ［(98.39±21.19) vs (12.01±4.45) mg/L］, sFLC-λ［(210.20±45.54) vs (14.10±5.11) mg/L］ and proportions of hypocalcemia （65% vs 0） in the observation group were significantly higher than those in the control group (P < 0.05), while sFLC-κ/ λ ratio［（0.44±0.10） vs (0.87±0.12)］ and serum calcium ions ［（1.98±0.46） vs （2.42±0.40）mmol/L］ were significantly lower than those in the control group (P < 0.05). The sFLC-κ, sFLC-λ, the proportion of hypocalcemia and the course of hypocalcemia in ISS stage III patients in the observation group were significantly higher than those in stage I and II patients (P < 0.05), while sFLC-κ/λ ratio, and serum calcium ions were significantly lower than those in stage I and II patients (P < 0.05). The levels of sFLC-κ ［（107.76±21.22） vs （94.67±20.11）mg/L］, sFLC- λ［（245.54±41.12） vs （205.54±50.22）mg/L］ of patients with hypocalcemia in the observation group was significantly higher than those without hypocalcemia (P < 0.05), while the sFLC-κ/λ ratio was significantly lower than those without hypocalcemia ［（0.42±0.04） vs （0.47±0.06）；P < 0.05］. The levels of sFLC-κ ［(107.29±20.14） vs （ 91.11±18.92）mg/L］, sFLC-λ［（247.98±42.26） vs （179.29±39.32）mg/L］ in patients with ineffective chemotherapy were significantly higher than those in patients with effective chemotherapy (P < 0.05), while the sFLC-κ/λ ratio was significantly lower than those in patients with effective chemotherapy ［(0.43±0.10) vs (0.50±0.09)；P < 0.05）］. The area under the ROC curve for sFLC-κ, sFLC-λ, sFLC-κ/λ predicting ineffective chemotherapy was 0.803, 0.793 and 0.699 respectively, P < 0.05. There was no significant difference in sFLC-κ, sFLC-λ, sFLC-κ/λ ratio, serum calcium ion, hypocalcemia ratio and hypocalcemia course between survival and death patients (P >0.05). sFLC and serum calcium are related to ISS stage of MM patients. sFLC level has a certain value to predict the curative effect of chemotherapy in MM patients. However, the prognostic values of sFLC and serum calcium are not yet confirmed for MM patients.

Application of metagenomic next-generation sequencing technology in preterm infants with sepsis following antibiotic use

To explore the value of metagenomic next-generation sequencing (mNGS) technology in the etiological diagnosis of sepsis in preterm infants following antibiotic use. A retrospective analysis of medical records for 45 preterm infants with sepsis who were treated at Henan Provincial People's Hospital. All patients received antibiotic treatment for ≥3 days and underwent both blood culture and mNGS testing. The detection rates of pathogens by blood culture and mNGS testing were compared. The positive detection rate of pathogens by blood mNGS was higher than that by blood culture (44% vs 4%; P<0.001). Blood mNGS detected 28 strains of pathogens, including 23 bacteria, 4 fungi, and 1 Ureaplasma parvum. Blood culture identified one case each of Rhodotorula mucilaginosa and Klebsiella pneumoniae. In the group treated with antibiotics for >10 days, the positive rate of blood mNGS testing was higher than that of blood culture (40% vs 3%; P<0.001); similarly, in the group treated with antibiotics for ≤10 days, the positive rate of blood mNGS testing was also higher than that of blood culture (53% vs 7%; P=0.020). Treatment plans were adjusted based on blood mNGS results for 13 patients, with an effectiveness rate of 85% (11/13). In preterm infants with sepsis following antibiotic use, the positive rate of pathogen detection by blood mNGS is higher than that by blood culture and is unaffected by the duration of antibiotic use. Therefore, mNGS testing can be considered for confirming pathogens when clinical suspicion of infection is high but blood culture fails to detect the pathogen.

The effect of budesonide-formoterol powder inhalation on cough and lung function following thoracoscopic pulmonary surgery: a retrospective cohort study.

To explore whether portable budesonide-formoterol powder inhalation can ameliorate cough symptoms and improve pulmonary function recovery in patients who underwent thoracoscopic lung surgery. Clinical data of patients who underwent thoracoscopic pulmonary resection at Henan Provincial People's Hospital between December 2022 and May 2023 were extracted. To evaluate the impact of continuous post-operative use of portable budesonide-formoterol powder inhalation, patients were divided into two groups: the control group and the case group. Next, we compared the Leicester cough score and pulmonary function indexes of the patients before surgery, one month and six month after the operation. A total of 188 cases were included, and the baseline demographic characteristics of both groups were well-balanced. The internal consistency of the LCQ-MC scale, as indicated by Cronbach's α coefficients, were all greater than 0.8, and there was no significant difference in LCQ-MC scores between the two groups before the operation (Z=-1.173, P=0.241). Postoperatively, the LCQ-MC score in the case group was significantly higher than that in the control group (18.66 vs. 16.79, P<0.01), with a notable statistically significant difference in the reduction of LCQ-MC scores between the two groups (1.32 vs. 3.30, P<0.01). Analysis of lung function revealed that patients in the case group exhibited significant improvements in FEV1/FVC, FVC, FEV1, PEF, MMEF75/25, MVV, DLCO and the RV/TLC indexes compared to the control group (P<0.01). Portable budesonide-formoterol powder inhalation can alleviate cough symptoms and promote pulmonary function recovery in patients following thoracoscopic lung surgery.

Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability

To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID). Seventeen pedigrees affected with unexplained intellectual disability which had presented at Henan Provincial People's Hospital from May 2021 to May 2023 were selected as the study subjects. Clinical data of the probands and their pedigree members were collected. Trio-whole exome sequencing (Trio-WES), Sanger sequencing and X chromosome inactivation (XCI) analysis were carried out. Pathogenicity of candidate variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics and co-segregation analysis. The 17 probands, including 9 males and 8 females with an age ranging from 0.6 to 8 years old, had all shown mental retardation and developmental delay. Fourteen variants were detected by genetic testing, which included 4 pathogenic variants (MECP2: c.502C>T, MECP2: c.916C>T/c.806delG, IQSEC2: c.1417G>T), 4 likely pathogenic variants (MECP2: c.1157_1197del/c.925C>T, KDM5C: c.2128A>T, SLC6A8: c.1631C>T) and 6 variants of uncertain significance (KLHL15: c.26G>C, PAK3: c.970A>G/c.1520G>A, GRIA3: c.2153C>G, TAF1: c.2233T>G, HUWE1: c.10301T>A). The PAK3: c.970A>G, GRIA3: c.2153C>G and TAF1: c.2233T>G variants were considered as the genetic etiology for pedigrees 12, 14 and 15 by co-segregation analysis, respectively. The proband of pedigree 13 was found to have non-random XCI (81:19). Therefore, the PAK3: c.1520G>A variant may underlie its pathogenesis. Trio-WES has attained genetic diagnosis for the 17 XLID pedigrees. Sanger sequencing and XCI assay can provide auxiliary tests for the diagnosis of XLID.

The Incidence and Characteristics of Thrombosis in Patients with Immune thrombocytopenia: A Retrospective Cohort Study.

This study aims to investigate the incidence, clinical characteristics, and prognosis of thrombosis in Chinese patients with immune thrombocytopenia (ITP). This was a single-center, retrospective study of adult patients with ITP at the Henan Provincial People's Hospital from January 2018 to June 2023. A total of 3216 adult patients with primary ITP were included in the study period, with 25 (0.93%) having thrombotic events. The average age of 25 patients with thrombosis is 62.76±12.79 years, including 11 males and 14 females. In addition, among the 25 thrombotic events, 19 cases were arterial thrombosis (AT), and 6 cases were venous thrombosis (VT). The incidence of AT is higher than that of VT (P=0.009). There was no obvious difference in clinical characteristics between the two groups. The median platelet count at the time of thrombosis in 25 patients was 35 (23, 52) ×109/L. At the onset of thrombosis, 23 patients (92.0%) had a low PLT (<100×109/L). One patient with ischemic stroke died in the hospital due to severe infection. ITP may be considered a bleeding disorder with a high risk of thrombosis, and AT is more common than VT in the Chinese population.

Effect of anti-Müllerian hormone on early pregnancy loss in hormone replacement therapy-frozen-thawed embryo transfer cycles: An analysis including 6597 pregnant patients undergoing their first invitro fertilization/intracytoplasmic sperm injection cycle.

To investigate the relationship between anti-Müllerian hormone (AMH) level and early pregnancy loss in patients who underwent their first embryo transfer by hormone replacement therapy-frozen-thawed embryo transfer (HRT-FET) and analyze the threshold effect. A retrospective cohort analysis was performed on pregnant women undergoing HRT-FET at the Reproductive Medical Center of Henan Provincial People's Hospital from January 2016 to December 2021. The patients were divided into four groups based on AMH concentration according to the Poseidon criteria: group A (≤1 μg/L), group B (1-≤2 μg/L), group C (2-≤6 μg/L), and group D (>6 μg/L). Univariate analysis, multivariate logistic regression analysis, smooth curve fitting, and threshold effect analysis were applied to investigate the influence of AMH on the outcome of early pregnancy loss in invitro fertilization/intracytoplasmic sperm injection and HRT-FET cycles. Of the 6597 pregnant women, early pregnancy loss occurred in 893, giving an early pregnancy loss rate of 13.54%. Univariate regression analysis demonstrated that age, female body mass index, AMH, antral follicle count, endometrial thickness at endometrial transformation day, total retrieved oocyte number, number of pregnancies, duration of infertility, type of infertility, and the number of embryos transferred were all factors influencing the early pregnancy loss rate (P < 0.050). Multivariate logistic regression analysis, after adjusting for confounders, further stratified the analysis of patients of different ages. With group A as the control group, the results showed that when age was younger than 35 years, the pregnancy loss rates in groups B, C, and D were lower than that in group A, with statistical significance (P < 0.050); when age was 35 years or older, there was no statistically significant difference in outcome indicators between the groups (P > 0.050). A threshold effect analysis revealed that the AMH threshold was 2.83 μg/L. When the AMH concentration was less than 2.83 μg/L, the early pregnancy loss rate decreased significantly with increasing AMH concentration; the early pregnancy loss rate decreased by 21% for each unit increase in AMH (odds ratio 0.79; 95% confidence interval 0.71-0.88; P < 0.001); when the AMH concentration was 2.83 μg/L or more, there was no statistical difference in the change in early pregnancy loss rate (odds ratio 1.01; 95% confidence interval 0.99-1.03; P = 0.383). For pregnant women after their first embryo transfer, there is a curvilinear relationship between the influences of AMH levels on early pregnancy loss rates in patients younger than 35 years. When the AMH level was less than 2.83 μg/L, the early pregnancy loss rate declined significantly with increasing AMH levels.