OBJECTIVE: To explore the clinical and genetic characteristics of five fetuses with Harlequin ichthyosis (HI). METHODS: Five fetuses with HI diagnosed at Guangdong Women and Children Hospital between 2017 and 2024 were selected as study subjects. Clinical and laboratory data were collected and reviewed. Whole exome sequencing (WES) was carried out, and candidate variants were verified by bioinformatic analysis. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202401024). RESULTS: The five fetuses had presented with ectropion, eclabium and contracture and flexion of fingers and toes. WES revealed that all had harbored compound heterozygous or homozygous variants of the ABCA12 gene. Among the eight types of variants, five were unreported previously. CONCLUSION The compound heterozygous or homozygous variants of the ABCA12 gene probably underlay the HI in the five fetuses. Clinicians should be vigilant about the possibility of HI in fetus with ectropion, eclabium, and contracture and flexion of fingers and toes.
Humans ; Ichthyosis, Lamellar/genetics* ; Female ; ATP-Binding Cassette Transporters/genetics* ; Pregnancy ; Genotype ; Phenotype ; Exome Sequencing ; Fetus ; Mutation ; Male ; Adult

Compassion is an important part of nurses'professional quality,and it is also the basis of effective nurse-patient communication and humanistic care.Improving nurses'compassion is helpful to provide high-quality nursing services to patients.This study reviews the definition of compassion,the factors affecting compassion and the training methods to improve compassion,analyzes the shortcomings of existing training methods,and puts forward the prospects for future research,so as to provide a theoretical foundation for future compassion training among nurses.

During long-term electrocardiogram (ECG) monitoring, various types of noise inevitably become mixed with the signal, potentially hindering doctors' ability to accurately assess and interpret patient data. Therefore, evaluating the quality of ECG signals before conducting analysis and diagnosis is crucial. This paper addresses the limitations of existing ECG signal quality assessment methods, particularly their insufficient focus on the 12-lead multi-scale correlation. We propose a novel ECG signal quality assessment method that integrates a convolutional neural network (CNN) with a squeeze and excitation residual network (SE-ResNet). This approach not only captures both local and global features of ECG time series but also emphasizes the spatial correlation among ECG signals. Testing on a public dataset demonstrated that our method achieved an accuracy of 99.5%, sensitivity of 98.5%, and specificity of 99.6%. Compared with other methods, our technique significantly enhances the accuracy of ECG signal quality assessment by leveraging inter-lead correlation information, which is expected to advance the development of intelligent ECG monitoring and diagnostic technology.
Electrocardiography/methods* ; Humans ; Signal Processing, Computer-Assisted ; Neural Networks, Computer ; Algorithms

Photoplethysmography (PPG) is often affected by interference, which could lead to incorrect judgment of physiological information. Therefore, performing a quality assessment before extracting physiological information is crucial. This paper proposed a new PPG signal quality assessment by fusing multi-class features with multi-scale series information to address the problems of traditional machine learning methods with low accuracy and deep learning methods requiring a large number of samples for training. The multi-class features were extracted to reduce the dependence on the number of samples, and the multi-scale series information was extracted by a multi-scale convolutional neural network and bidirectional long short-term memory to improve the accuracy. The proposed method obtained the highest accuracy of 94.21%. It showed the best performance in all sensitivity, specificity, precision, and F1-score metrics, compared with 6 quality assessment methods on 14 700 samples from 7 experiments. This paper provides a new method for quality assessment in small samples of PPG signals and quality information mining, which is expected to be used for accurate extraction and monitoring of clinical and daily PPG physiological information.
Photoplethysmography ; Machine Learning ; Neural Networks, Computer

Objective:To evaluate the correlation between age and renal outcomes in patients with stage 2-4 chronic kidney disease (CKD) and the impact of age on CKD outcomes in kidney diseases of different etiologies.Methods:A prospective cohort study included 470 patients with stage 2-4 CKD. The Kaplan Meier method was used to analyze the differences in CKD outcomes among different age groups. The independent risk factors for CKD progression were analyzed using a multivariate Cox regression model. We adjusted for baseline differences in risk factors for CKD outcomes between two age groups using propensity score matching (PSM).Results:Among 470 patients, 39 cases of end-stage renal disease (ESRD) events (all starting dialysis) and 51 deaths were observed. The Kaplan Meier survival curve ( P=0.039) and Cox regression univariate survival analysis ( P=0.043) both showed that <60 years old is a risk factor for CKD patients to progress to ESRD. In multivariate Cox regression, age remained an independent risk factor for the progression of CKD patients (hazard ratio 0.386, 95% CI: 0.163-0.916; P=0.031). For kidney diseases with different causes, in patients with hypertensive kidney damage ( P=0.024) and primary glomerulonephritis ( P=0.047), the cumulative incidence rate of ESRD in patients <60 years old was higher than that in patients ≥60 years old. There was no statistically significant difference in all-cause mortality rates between patients aged <60 and ≥60 years old ( P=0.646). Conclusions:Elderly patients with stage 2-4 CKD have a lower ESRD risk than younger patients. This discovery helps nephrologists and decision-makers optimize the management of elderly CKD patients.

Background Long-term exposure to arsenic can cause liver injury of varying degrees. Mitochondrial damage may be an early key event of arsenic-induced liver injury. Silent mating type information regulation 2 homolog 1 (SIRT1)/ recombinant peroxisome proliferators-activated receptor gamma coactivator 1 alpha (PGC-1α) is an important pathway regulating mitochondrial mass and function. However, whether arsenic-induced liver injury is related to mitochondrial dysfunction mediated by SIRT1/PGC-1α pathway remains unclear. Objective To investigate potential effects of sodium arsenite (NaAsO₂) on mitochondrial function and expressions of SIRT1/PGC-1α pathway-related proteins in human normal liver cell. Methods Human normal liver cells (MIHA cells) were used as the research object. MIHA cells were treated with different concentrations of NaAsO₂ (0, 5, 10 and 20 μmol·L⁻¹) for 24 h, and the cells were collected for study. The ultrastructure of mitochondria was observed by transmission electron microscopy, adenosine triphosphate (ATP) concentration by fluorescence method, mitochondrial membrane potential (MMP) level by flow cytometry, and SIRT1, PGC-1α and their downstream nuclear respiratory factor 1 (NRF1) and mitochondrial transcription factor A (TFAM) protein expression levels by Western blotting. One-way analysis of variance and trend test were used for data statistical analysis. Results The viability of MIHA cells decreased gradually with the increase of NaAsO₂ concentration (F=6495.47, P<0.001). The transmission electron microscope observation showed that the size of mitochondria in the 10 μmol·L⁻¹ NaAsO₂ treatment group was different, and the mitochondria were swollen or elongated in a rod-like shape. The mitochondria in the 20 μmol·L⁻¹ NaAsO₂ treatment group swelled like air spheres or vacuoles. The ATP concentration and MMP level of MIHA cells gradually decreased with the increase of NaAsO₂ concentration (F_{trend of ATP}=172.28, F_{trend of MMP}=59.91, both Ps<0.001). Compared with the control group, the protein expression levels of SIRT1, PGC-1α, NRF1, and TFAM were not significantly changed in the 5 μmol·L⁻¹ NaAsO₂ treatment group, while the protein expression levels of SIRT1, PGC-1α, and TFAM were decreased in the 10 μmol·L⁻¹ NaAsO₂ treatment group, and the protein expression levels of SIRT1, PGC-1α, and NRF1 were decreased in the 20 μmol·L⁻¹ NaAsO₂ treatment group. The results of trend test showed that the protein expression levels of SIRT1, PGC-1α, NRF1, and TFAM decreased gradually with the increase of NaAsO₂ concentration (F_{trend of SIRT1}=47.07, P<0.001; F_{trend of PGC-1α}=15.17, P<0.01; F_{trend of NRF1}=13.54, P<0.01; F _{trend of TFAM}=4.20, P<0.05). Conclusion The down-regulation of SIRT1/PGC-1α and its downstream NRF1 and TFAM may be involved in NaAsO₂-induced mitochondrial dysfunction in liver cells.

OBJECTIVE: To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province. METHODS: One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing. Variant site, frequency and distribution of the variants were analyzed. RESULTS: In total 552 deafness gene variants were detected among the 7875 newborns, which yielded a detection rate of 7.01%. Among these, common variant sites for GJB2, SLC26A4 and GJB3 genes were c.235delC, IVS7-2A>G and c.538C>T, respectively. The variant frequencies of matrilinear inheritance deafness genes MT-CO1, MT-RNR1, MT-TL1 and MT-TS1 were 0.38%, 0.25%, 0.1% and 0.01%, respectively. Four newborns were diagnosed with deafness, among which one had unilateral hearing loss. Analysis of the proportions of neonatal deafness-related variants in five counties of Dongying showed that the highest variant rate for the SLC26A4 gene compared with GJB2 was in Lijin county (51.76% vs. 40%), while the lowest was in Hekou county (30.77% vs. 56.41%). CONCLUSION The carrier rate of deafness-related variants in Dongying area is higher than other regions of China, which may be attributed to the increased types and variant sites covered by the semiconductor sequencing method compared with the chip method and time-of-flight mass spectrometry. Due to geographical and population aggregation factors, the proportion of deafness variants in the five counties of Dongying differed significantly. Above results may provide a guide for the prevention of congenital deafness in Dongying area.

The extraction of pulse rate variability(PRV) in daily life is often affected by exercise and blood perfusion. Therefore, this paper proposes a method of detecting pulse signal and extracting PRV in post-ear, which could improve the accuracy and stability of PRV in daily life. First, the post-ear pulse signal detection system suitable for daily use was developed, which can transmit data to an Android phone by Bluetooth for daily PRV extraction. Then, according to the state of daily life, nine experiments were designed under the situation of static, motion, chewing, and talking states, respectively. Based on the results of these experiments, synchronous data acquisition of the single-lead electrocardiogram (ECG) signal and the pulse signal collected by the commercial pulse sensor on the finger were compared with the post-auricular pulse signal. According to the results of signal wave, amplitude and frequency-amplitude characteristic, the post-ear pulse signal was significantly steady and had more information than finger pulse signal in the traditional way. The PRV extracted from post-ear pulse signal has high accuracy, and the accuracy of the nine experiments is higher than 98.000%. The method of PRV extraction from post-ear has the characteristics of high accuracy, good stability and easy use in daily life, which can provide new ideas and ways for accurate extraction of PRV under unsupervised conditions.
Ear ; Electrocardiography, Ambulatory ; Fingers ; Heart Rate ; Humans ; Monitoring, Ambulatory ; Motion ; Pulse

Objective To investigate the clinical value of tumor specific grow th factor(TSGF),neuron specific enolase(NSE),cytokeratin 19 fragment(CYFRA21-1),squamous cell carcinoma antigen(SCCAg)in the diagnosis of lung cancer.Methods 20 patients with lung cancer,42 patients with lung benign diseases and 54 healthy people undergoing the physical examination in this hospital from September 2014 to November 2016 were served as the lung cancer group,benign diseases group and healthy control group respectively.The Abbott microparticle chemiluminescence instrument was used to detect CYFRA21-1 and SCCA levels,the Roche electrochemical luminescence instrument was used to detect the NSE level and the TSGF level was de-tected by using the Olympus 5400 biochemical analyzer.Then the detection results were statistically analyzed. Results The levels of serum TSGF and NSE in the lung cancer group were higher than those in the lung be-nign diseases group and healthy control group,and the differences were statistically significant(P< 0.05). The serum CYFRA21-1 level of the lung benign disease group was higher than that in the healthy control group(P<0.05).The sensitivity and specificity of TSGF,NSE,CYFRA21-1 and SCCAg combined detection were 90.00% and 93.00% respectively.The area under the ROC curve was 0.959.Conclusion TSGF posses-ses wide spectrum marker characteristics,has a certain value for screening lung cancer,moreover its combined detection with NSE,CYFRA21-1 and SCCAg can increase the accuracy in diagnosis of lung cancer.

Objective To investigate the status quo and influencing factors of occupational identification and turnover intention among pediatric nurses in Tai'an,and analyze the correlation between them, and provide theoretical basis for stabilizing the pediatric nursing team. Methods A cross-sectional questionnaire survey was conducted among 442 pediatric nurses from 6 hospitals in Tai'an by means of occupational identity rating scale and turnover intention scale. Results The total score of professional identity was (97.45 ± 16.37) points; there was no very low turnover intention individual; the rate of the relative lower turnover intention was 17.87%(79/442); the rate of relative higher turnover intention was 52.26%(231/442); the rate of the very higher turnover intention was 29.86%(132/442). Career identity and dimensions were negatively related to turnover intention(r=-0.476--0.136,P<0.01). Conclusions Occupational identification of pediatric nurses in Tai'an is at a moderate level and the intention to quit is strong.The higher the occupational identification is,the lower the turnover intention of pediatric nurses in Tai'an, therefore, the nursing managers should pay attention to improve the professional identity of pediatric nurses and lower their turnover intention so as to achieve the goal of stabilizing the pediatric nursing team.