[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene].

OBJECTIVE: To explore the clinical and genetic characteristics of three children with Leguis syndrome. METHODS: Three children suspected as Legius syndrome at the Henan Children's Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected. All children were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing. RESULTS: All of the children (including 2 females and 1 male, and aged 4 years and 6 months, 8 years, and 14 years and 8 months, respectively) had typical café de lait spots. Child 1 also had precocious puberty, and children 2 and 3 had short statures. Genetic testing revealed that all of them had harbored heterozygous variants of the SPRED1 gene, including c.751C>T (p.Arg251Ter194) in child 1, c.229A>T (p.Lys77Ter368) in child 2, and c.1044_1046delinsC (p.R349fs*11) in child 3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.751C>T (p.Arg251Ter194) variant was predicted to be likely pathogenic, whilst the other two were known pathogenic variants. CONCLUSION: All of the three children were diagnosed with Leguis syndrome due to variants of the SPRED1 gene, which had manifested as multiple café de lait spots in conjunct with precocious puberty or short statures.

[Analysis of clinical features and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency].

OBJECTIVE: To explore the clinical characteristics and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD type Ⅲ). METHODS: Clinical data of three children diagnosed with late-onset MADD at the Children's Hospital Affiliated to Zhengzhou University between March 2020 and March 2022 were retrospectively analyzed. All children were subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. All children had received improved metabolic therapy and followed up for 1 ~ 3 years. RESULTS: The children had included 2 males and 1 female, and aged from 2 months to 11 years and 7 months. Child 1 had intermittent vomiting, child 2 had weakness in lower limbs, while child 3 had no symptom except abnormal neonatal screening. Tandem mass spectrometry of the three children showed elevation of multiple acylcarnitines with short, medium and long chains. Children 1 and 2 showed increased glutaric acid and multiple dicarboxylic acids by urine Gas chromatography-mass spectrometry (GC-MS) analysis. All children were found to harbor compound heterozygous variants of the ETFDH gene, including a paternal c.1211T>C (p.M404T) and a maternal c.488-22T>G variant in child 1, a paternal c.1717C>T (p.Q573X) and a maternal c.250G>A (p.A84T) variant in child 2, and a paternal c.1285+1G>A and maternal c.629A>G (p.S210N) variant in child 3. As for the treatment, high-dose vitamin B2, levocarnitine and coenzyme Q10 were given to improve the metabolism, in addition with a low fat, hypoproteinic and high carbohydrate diet. All children showed a stable condition with normal growth and development during the follow-up. CONCLUSION: The compound heterozygous variants of the ETFDH gene probably underlay the muscle weakness, remittent vomiting, elevated short, medium, and long chain acylcarnitine, as well as elevated glutaric acid and various dicarboxylic acids in the three children with type Ⅲ MADD.

Antecedents and outcomes of cyberbullying among Chinese university students: verification of a behavioral pathway model.

Introduction: Cyberbullying is a commonly-seen and hotly-debated social topic around the globe. This negative behavior is the source of many disastrous events, and so leading government bodies, organizations, schools and social communities attach great importance to addressing this topic. However, there is still much work to do in order to be clear about the causes of cyberbullying. Methods: The previous research cases were mostly viewed from the victims' perspectives; however, there is no comprehensive understanding of the perpetrators' viewpoints. Therefore, based on Social Cognitive Theory (SCT) and analysis of discussion in the literature, the following six variables were chosen as the focus of this study: overconfidence, excessive moral sense, cyberbullying, perceived value, happiness, and continued cyberbullying intention. This study established a research model of continued cyberbullying intention, which was verified by Structural Equation Modeling. In order to achieve the aims of the study, Chinese university students with an average age of 20.29 (SD = 1.43) were recruited as participants, from whom 1,048 valid questionnaires were collected. Results: The research results are as follows: 1. Overconfidence and excessive moral sense positively predicted cyberbullying behaviors; 2. Overconfidence positively predicted excessive moral sense; 3. Cyberbullying positively predicted perceived value and sense of happiness; and 4. Perceived value and sense of happiness positively predicted continued cyberbullying intentions. Conclusion: Students' biased self-perception significantly predicts their cyberbullying behaviors and continued cyberbullying intention. What is more, it is interesting to learn that perpetrators will continue to exhibit cyberbullying behaviors when they believe that what they do (cyberbullying) is valuable or allows them to experience positive feelings; this requires our attention.

Charge-Transfer-Induced Interfacial Ferromagnetism in Ferromagnet-Free Oxide Heterostructures.

Due to the strong interlayer coupling between multiple degrees of freedom, oxide heterostructures have demonstrated exotic properties that are not shown by their bulk counterparts. One of the most interesting properties is ferromagnetism at the interface formed between "nonferromagnetic" compounds. Here we report on the interfacial ferromagnetic phase induced in the superlattices consisting of the two paramagnetic oxides CaRuO3 (CRO) and LaNiO3 (LNO). By varying the sublayer thickness in the superlattice period, we demonstrate that the ferromagnetic order has been established in both CaRuO3 and LaNiO3 sublayers, exhibiting an identical Curie temperature of ∼75 K. The X-ray absorption spectra suggest a strong charge transfer from Ru to Ni at the interface, triggering superexchange interactions between Ru/Ni ions and giving rise to the emergent ferromagnetic phase. Moreover, the X-ray linear dichroism spectra reveal the preferential occupancy of the d3z2-r2 orbital for the Ru ions and the dx2-y2 orbital for the Ni ions in the heterostructure. This leads to different magnetic anisotropy of the superlattices when they are dominated by CRO or LNO sublayers. This work clearly demonstrates a charge-transfer-induced interfacial ferromagnetic phase in the whole ferromagnet-free oxide heterostructures, offering a feasible way to tailor oxide materials for desired functionalities.

Genetic and pharmacological targeting of XBP1 alleviates hepatic ischemia reperfusion injury by enhancing FoxO1-dependent mitophagy.

Hepatic ischemia reperfusion (I/R) injury is a common clinical complication. X-box binding protein 1 (XBP1), as a critical regulator of the endoplasmic reticulum stress, has been implicated in a variety of diseases. In this study, we aimed to investigate the effects and the underlying mechanism of XBP1 in the progression of hepatic I/R injury. Hepatocyte-specific XBP1 knockout mice, multiple viral delivery systems and specific pharmacological inhibitors were applied in vivo in a partial hepatic I/R injury mouse model and in vitro in a cell model of hypoxia-reoxygenation (H/R) injury. Mitophagy and autophagic flux were evaluated and fluorescence resonance energy transfer (FRET) as well as immunoprecipitation were performed. The results demonstrated that reperfusion for 6 h represented a critical timepoint in hepatic I/R injury and resulted in significant intracellular mitochondrial dysfunction; led to the breakdown of hepatocytes accompanied by the highest expression levels of XBP1. Hepatocyte-specific XBP1 knockout alleviated hepatic I/R injury via enhanced mitophagy, as demonstrated by the reduction in hepatocellular damage/necrosis and increased expression of mitophagy markers. Mechanistically, XBP1 interacted with FoxO1 directly and catalyzed the ubiquitination of FoxO1 for proteasomal degradation. Targeting XBP1 by genetic or pharmacological techniques potentiated the protein levels of FoxO1, further promoting the activity of the PINK1/Parkin signaling pathway, thus augmenting mitophagy and exerting hepatoprotective effects upon I/R injury. In conclusion, the inhibition of XBP1 potentiated FoxO1-mediated mitophagy in hepatic I/R injury. Specific genetic and pharmacological treatment targeting XBP1 in the perioperative 6 h prior to reperfusion exerted beneficial effects, thus providing a novel therapeutic approach.

Prolonged capillary refill time and short-term mortality of critically ill patients: A meta-analysis.

BACKGROUND: Prolonged capillary refill time (CRT) is an indicator of poor peripheral perfusion. The aim of the systematic review and meta-analysis was to evaluate the association of prolonged CRT and mortality of critically ill patients. METHODS: To achieve the objective of this meta-analysis, we conducted a thorough search of PubMed, Embase, Cochrane Library, and the Web of Science to identify relevant observational studies with longitudinal follow-up. The Cochrane Q test was utilized to assess between-study heterogeneity, and the I2 statistic was calculated to estimate the degree of heterogeneity. We employed random-effects models to combine the outcomes, considering the potential influence of heterogeneity. RESULTS: Eleven studies, encompassing 11,659 critically ill patients were included. During follow-up durations within hospitalization to 3 months, 1247 (10.7%) patients died. The pooled results indicated that a prolonged CRT at early phase of admission was significantly associated with an increased risk of all-cause mortality (risk ratio [RR]: 1.73, 95% confidence interval [CI]: 1.39 to 2.16, p < 0.001; I2 = 60%). Subgroup analyses showed that the association was not significantly modified by study design (prospective or retrospective), etiology of diseases (infection, non-infection, or mixed), or cutoff of CRT (>3 s, 3.5 s, or 4 s). The association between CRT and mortality was weaker in studies with multivariate analysis (RR: 1.43, 95% CI: 1.27 to 1.60, p < 0.001; I2 = 0%) as compared to that derived from studies of univariate analysis (RR: 6.27, 95% CI: 3.29 to 11.97, p < 0.001; I2 = 0%). CONCLUSIONS: Prolonged CRT at admission may be a predictor of increased short-term mortality of critically ill patients.

Efficacy of an enhanced recovery nursing plan as a rooming-in practice for women with preeclampsia post-cesarean section.

Our purpose was to develop and evaluate the clinical outcomes of a nursing plan as a rooming-in practice for enhanced recovery of women with preeclampsia following a cesarean section. The authors developed a postoperative enhanced recovery nursing plan as a rooming-in practice for women with preeclampsia based on summarizing evidence-based best practices. The authors used convenience sampling to select women with preeclampsia after a cesarean section from the obstetrics department of a Class A tertiary hospital in Nanjing, China, as the participants in our study. There were 30 women in the experimental group. The postoperative enhanced recovery nursing care plan was formulated for five postoperative time points and incorporated management of blood pressure, temperature, and fluids, as well as monitoring of complications, pain management, activity and rest, diet management, and breastfeeding. The control group consisted of 30 women who received routine nursing care and health education. The authors compared levels of maternal self-efficacy, breastfeeding efficacy, anxiety, pain scores, and deep vein thrombosis (DVT) prevention compliance before and after the intervention. Women in the experimental group had a self-efficacy score of 7.5 ± 0.63, which was higher than that in the control group (5.4 ± 0.85); they had a higher breastfeeding efficacy score of 7.13 ± 0.68 when compared to the control group (4.23 ± 0.86); the anxiety score was 6.7 ± 1.62, which was lower than that in the control group (10.03 ± 1.87); and the pain score was lower at 3.26 ± 0.52 when compared to the control group (3.83 ± 0.83). All the differences were statistically significant (P < 0.05). Postoperative blood pressure was controlled within the target range, and the rate of DVT prevention compliance increased in the experimental group. The implementation of a postoperative enhanced recovery nursing intervention for women with preeclampsia as part of the rooming-in practice was effective in helping manage the blood pressure, pain, and fluids of women with preeclampsia, improved their postoperative self-management ability and breastfeeding efficacy, reduced their anxiety levels, improved their compliance with the prevention of related complications, and ultimately promoted enhanced postoperative recovery, thereby guaranteeing the safety of mothers and newborns.

Layered Ferromagnetic Structure Caused by the Proximity Effect and Interlayer Charge Transfer for LaNiO3/LaMnO3 Superlattices.

Magnetic proximity-induced magnetism in paramagnetic LaNiO3 (LNO) has spurred intensive investigations in the past decade. However, no consensus has been reached so far regarding the magnetic order in LNO layers in relevant heterostructures. This paper reports a layered ferromagnetic structure for the (111)-oriented LNO/LaMnO3 (LMO) superlattices. It is found that each period of the superlattice consisted of an insulating LNO-interfacial phase (five unit cells in thickness, ∼1.1 nm), a metallic LNO-inner phase, a poorly conductive LMO-interfacial phase (three unit cells in thickness, ∼0.7 nm), and an insulating LMO-inner phase. All four of these phases are ferromagnetic, showing different magnetizations. The Mn-to-Ni interlayer charge transfer is responsible for the emergence of a layered magnetic structure, which may cause magnetic interaction across the LNO/LMO interface and double exchange within the LMO-interfacial layer. This work indicates that the proximity effect is an effective means of manipulating the magnetic state and associated properties of complex oxides.

Impact of the COVID-19 pandemic on the operations of the specialty hospital department in Beijing.

The coronavirus disease 2019 (COVID-19) pandemic was disruptive to non-COVID-19-related healthcare. This study aimed to compare patient inflows and patient population characteristics at the Hand Surgery Department of JiShuiTan (JST) Hospital in Beijing, a top referral center, in 2020 during the pandemic relative to the same period in 2019. This cross-sectional study was conducted to analyze the impact of the COVID-19 pandemic on patients admitted to the hand surgery ward. The participants were patients admitted from January to April 2019 (J-A19) and from January to April 2020 (J-A20). The medical records were analyzed, including age, sex, admission time, admission mode, admission diagnosis, and patient residence. Significantly fewer patients were admitted in J-A20 than in J-A19, with particularly dramatic reductions observed for non-Beijing residents and nonemergency cases (e.g., congenital anomalies operations for children). The top 5 diagnosis types for admitted patients were consistent throughout J-A19 and in January 2020. The rank of the diagnostic type "open injuries of the hand and wrist" increased significantly in February, March, and April of 2020 compared with 2019. The COVID-19 pandemic decreased patient admissions, especially for nonemergency patients, during J-A20.

Knowledge, attitude, and practice of hypertension prevention and control among rural residents in Shanxi Province / 预防医学

Objective@#To investigate the current status and influencing factors of knowledge, attitude, and practice of hypertension prevention and control among rural residents in Shanxi Province, so as to provide insights into implementation of health education pertaining to hypertension control in rural areas. @*Methods@#A total of 7 403 residents were sampled using a multi-stage cluster random sampling method from rural areas of Yangqu, Daning, and Yonghe counties of Shanxi Province from November 2020 to July 2021 for face-to-face questionnaire surveys and physical examinations. Residents' basic characteristics, knowledge, attitude, and practice of hypertension prevention and control, and height, weight, blood pressure were collected, and factors affecting knowledge, attitude, and practice of hypertension prevention and control were identified using a generalized linear model. @*Results@#A total of 7 403 questionnaires were allocated, and 7 031 effective questionnaires were recovered, with an effective response rate of 94.98%. The respondents included 3 035 men (43.17%) and 3 996 women (56.83%), and had a mean age of (58.45±13.75) years. The median scores of hypertension prevention and control knowledge, attitude and practice were 5 (interquartile range, 4), 16 (interquartile range, 5) and 14 (interquartile range, 7) points, with scoring percentages of 48.40%, 80.55% and 54.41%, respectively. Generalized linear model analysis showed that an educational level of junior high school and above, annual family income per capita of ≥4 000 RMB, family history of hypertension, development of hypertension among family members or friends, overweight/obesity and presence of depression resulted in high scores for hypertension prevention and control knowledge; annual family income per capita of ≥10 000 RMB, family history of hypertension, presence of hypertension among family members or friends, mild/severe insomnia and presence of depression resulted in high scores for hypertension prevention and control attitude, while age of ≥65 years and blood pressure of ≥140/≥90 mmHg resulted in low scores for attitude; females, age of ≥45 years, an educational level of junior high school and above, blood pressure of ≥140/≥90 mmHg, family history of hypertension, presence of hypertension among family members or friends and overweight/obesity resulted in high scores for hypertension prevention and control practice, and residents had a low body weight had a low score for practice (all P<0.05).@*Conclusions@#The hypertension prevention and control attitude is satisfactory among rural residents in Shanxi Province; however, the hypertension prevention and control knowledge and practice are poor. Health education pertaining to hypertension prevention and control should be strengthened, and personalized health education is needed targeting individuals with a low educational level and low income.