Ghrelin alleviates placental dysfunction by down-regulating NF-κB phosphorylation in LPS-induced rat model of preeclampsia.

In our previous study, we uncovered that ghrelin promotes angiogenesis in human umbilical vein endothelial cells (HUVECs) in vitro by activating the Jagged1/Notch2/VEGF pathway in preeclampsia (PE). However, the regulatory effects of ghrelin on placental dysfunction in PE are unclear. Therefore, we applied Normal pregnant Sprague-Dawley (SD) rats, treated with lipopolysaccharide (LPS), to establish a PE-like rat model. The hematoxylin-eosin (HE) staining method and immunohistochemistry (IHC) technology were used to detect morphological features of the placenta. IHC and Western blot were applied to examine Bax and Bcl-2 expression levels. The concentrations of serum soluble fms-like tyrosine kinase-1 (sFlt1) and placental growth factor (PIGF) were assessed by enzyme-linked immunosorbent assay (ELISA) kit. In addition, the apoptosis rates of JEG-3 and HTR-8/SVneo trophoblast cells were determined by Annexin V-FITC/PI apoptosis detection kit. Cell migratory capacities were assessed by scratch-wound assay, and RNA-sequencing assay was used to determine the mechanism of ghrelin in regulating trophoblast apoptosis. It has been found that ghrelin significantly reduced blood pressure, urinary protein, and urine creatinine in rats with PE, at the meanwhile, ameliorated placental and fetal injuries. Second, ghrelin clearly inhibited placental Bax expression and circulating sFlt-1 as well as elevated placental Bcl-2 expression and circulating PIGF, restored apoptosis and invasion deficiency of trophoblast cells caused by LPS in vitro. Finally, transcriptomics indicated that nuclear factor kappa B (NF-κB) was the potential downstream pathway of ghrelin. Our findings illustrated that ghrelin supplementation significantly improved LPS-induced PE-like symptoms and adverse pregnancy outcomes in rats by alleviating placental apoptosis and promoting trophoblast migration.

Multiple Congenital Granular Cell Epulis Involving Different Parts of the Oral Cavity: A Case Report.

Congenital granular cell epulis (CGCE) is a rare disease, particularly when it affects multiple oral and maxillofacial regions. We present the case of a female neonate with 4 asymptomatic masses attached to the maxillary and mandibular gingiva as well as the tongue. Due to the size of the masses causing feeding and respiratory difficulties, lesion removal was performed under general anesthesia. Histopathological analysis revealed tightly arranged polygonal cells with abundant granular eosinophilic cytoplasm. Immunohistochemically, the cells were negative for Smur100 (S-100), neuron-specific enolase (NSE), cluster of differentiation (CD) 68, and Sry-related HMG box (SOX)-10, and positive for alpha-1-antitrypsin (AAT) and vimentin. The diagnosis of multiple CGCEs was established through clinical examinations, histomorphometrical, and immunohistochemical analyses. In conclusion, CGCE should be considered in the differential diagnosis of intraoral lesions in neonates.

Multiomic Profiling of Human Clonal Hematopoiesis Reveals Genotype and Cell-Specific Inflammatory Pathway Activation.

Clonal hematopoiesis (CH) is an age-associated phenomenon that increases risk for hematologic malignancy and cardiovascular disease. CH is thought to enhance disease risk through inflammation in the peripheral blood1. Here, we profile peripheral blood gene expression in 66,968 single cells from a cohort of 17 CH patients and 7 controls. Using a novel mitochondrial DNA barcoding approach, we were able to identify and separately compare mutant TET2 and DNMT3A cells to non-mutant counterparts. We discovered the vast majority of mutated cells were in the myeloid compartment. Additionally, patients harboring DNMT3A and TET2 CH mutations possessed a pro-inflammatory profile in CD14+ monocytes through previously unrecognized pathways such as galectin and macrophage Inhibitory Factor (MIF). We also found that T cells from CH patients, though mostly un-mutated, had decreased expression of GTPase of the immunity associated protein (GIMAP) genes, which are critical to T cell development, suggesting that CH impairs T cell function.

Insights into a functional model of key deubiquitinases UBP12/13 in plants.

Understanding the complexities of protein ubiquitination is crucial, as it plays a multifaceted role in controlling protein stability, activity, subcellular localization, and interaction, which are central to diverse biological processes. Deubiquitinases (DUBs) serve to reverse ubiquitination, but research progress in plant DUBs is noticeably limited. Among existing studies, UBIQUITIN-SPECIFIC PROTEASE 12 (UBP12) and UBP13 have garnered attention for their extensive role in diverse biological processes in plants. This review systematically summarizes the recent advancements in UBP12/13 studies, emphasizing their function, and their substrate specificity, their relationship with E3 ubiquitin ligases, and the similarities and differences with their mammalian orthologue, USP7. By unraveling the molecular mechanisms of UBP12/13, this review offers in-depth insights into the ubiquitin-proteasome system (UPS) in plants and aims to catalyze further explorations and comprehensive understanding in this field.

The relationship between postpartum negative life events and postpartum depression: a moderated mediation model of neuroticism and psychological flexibility.

BACKGROUND: Postpartum depression (PPD) is a major public health problem worldwide. Previous studies have shown that postpartum negative life events and neuroticism are both important risk factors for PPD. However, few studies have considered the role of protective factors in the influence of postpartum negative life events and neuroticism on PPD. Based on the diathesis-stress model and Acceptance and Commitment Therapy (ACT), a moderated mediating model was established to examine the mediating role of neuroticism between postpartum negative life events and PPD, as well as the moderating role of psychological flexibility in this mediating effect. METHODS: A sample of 776 parturients from three different Grade A hospitals in China were assessed using the Edinburgh Postpartum Depression Scale, the Postpartum Negative Life Events Scale, the Neuroticism Subscale of the Big Five Personality Scale, and the Acceptance and Action Questionnaire- II. RESULTS: PPD, postpartum negative life events, neuroticism, and experiential avoidance were significantly positively correlated with one another. Neuroticism partially mediated the relationship between postpartum negative life events and PPD. In this mediation model, the direct path and the second half of the mediation path were moderated by psychological flexibility. Specifically, the links between postpartum negative life events and PPD, as well as between neuroticism and PPD, were stronger when psychological flexibility was low, but weaker when psychological flexibility was high. CONCLUSIONS: The results show that psychological flexibility plays an important role in buffering the negative effects of postpartum negative life events and neuroticism on PPD. These findings provide implications for the prevention and intervention of PPD using an ACT approach.

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.

Variants in the GABRB gene, which encodes the ß subunit of the GABAA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are often associated with early-onset seizures, developmental regression, and cognitive impairments. The severity and specific features of these encephalopathies can differ based on the nature of the genetic variant and its impact on GABAA receptor function. These variants can lead to dysfunction in GABAA receptor-mediated inhibition, resulting in an imbalance between neuronal excitation and inhibition that contributes to the development of seizures. Here, 13 de novo EE-associated GABRB variants, occurring as missense mutations, were analyzed to determine their impact on protein stability and flexibility, channel function, and receptor biogenesis. Our results showed that all mutations studied significantly impact the protein structure, altering protein stability, flexibility, and function to varying degrees. Variants mapped to the GABA-binding domain, coupling zone, and pore domain significantly impact the protein structure, modifying the ß+/α- interface of the receptor and altering channel activation and receptor trafficking. Our study proposes that the extent of loss or gain of GABAA receptor function can be elucidated by identifying the specific structural domain impacted by mutation and assessing the variability in receptor structural dynamics. This paves the way for future studies to explore and uncover links between the incidence of a variant in the receptor topology and the severity of the related disease.

[Current situation and related of overweight and obesity in children aged 3-6 years old in Urumqi City in 2021].

OBJECTIVE: To understand the current situation and related factors of overweight and obesity in children aged 3-6 years old in Urumqi City. METHODS: From October to December 2021, a questionnaire survey was conducted on the general information of 1897 children and their fathers or mothers from 10 kindergartens in Urumqi City by stratified cluster sampling, and the height and weight of the children were measured. SPSS 25.0 was used for χ~2 test and Logistic regression analysis. RESULTS: There were 1897 children out of which 961(50.66%) were boys, 936(49.34%) were girls, 334(17.60%) were 3 years old, 592(31.21%)were 4 years old, 667(35.16%) were 5 years old, and 304(16.03%) were 6 years old. The prevalence rate of obesity and overweight in children aged 3-6 years old was 31.21%(592). Single factor analysis showed that child's age, the child's sex, the child's dietary habits, whether the child's father had a family history of obesity, whether the child's mother had a family history of obesity, whether the child's mother suffered from hypertension during pregnancy, whether the child's father smoked, whether the child's mother smoked during pregnancy(including passive smoking), the child's family per capita monthly income, the child's family structure type, and the child's mother's pregnancy age were all statistically significant(P<0.05 or P<0.01). The logistic regression analysis showed that child's age, the child's sex, the child's dietary habits, whether the child's father had a family history of obesity, whether the child's mother had a family history of obesity, whether the child's mother suffered from hypertension during pregnancy, whether the child's father smoked, whether the child's mother smoked during pregnancy(including passive smoking), the child's family structure type, and the child's mother's pregnancy age were overweight and obesity children aged 3-6 years old of related factors in Urumqi(P<0.05 or P<0.01). CONCLUSION: The detection rate of overweight and obesity in children aged 3-6 years old in Urumqi City is high.

Family functioning and suicidal ideation in college students: a moderated mediation model of depression and acceptance.

Objective: To explore the mediating role of depression in the relationship between family functioning and suicidal ideation (SI) in college students, and to explore whether acceptance (It is one of the core components of psychological flexibility) plays a moderating role in this mediating model. Methods: In a cross-sectional study, questionnaires were distributed to college students during November and December 2022. The sample of Chinese college students (n = 592, 43.07% male, 56.93% female, mean age 19.40 years, SD = 1.24 years) completed the Family Adaptability and Cohesion Evaluation Scale (FACES III), the Center for Epidemiological Depression Scale (CES-D), the Positive and Negative Suicide Ideation Inventory (PANSI), and the Acceptance and Action Questionnaire-Second Edition (AAQ II). SPSS 25.0 for Windows and PROCESS 2.15 macros were used for data analysis. Results: There was a significant negative correlation between family functioning and SI, and depression played a mediating role in this relationship. Acceptance moderated the indirect effects of depression and SI in college students. In college students with a lower acceptance level (i.e., higher experiential avoidance level), depression had more influence on SI, while the influence of depression on SI was less in college students with a higher acceptance level (i.e., lower experiential avoidance level). Family functioning indirectly influenced SI through the moderation of acceptance. Conclusion: Mental health educators in colleges and universities should pay more attention to identifying and relieving depression in college students, thereby dealing with suicide risk more effectively. At the same time, college students should be discouraged from excessive use of experiential avoidance strategies, and instead taught to master effective emotional regulation strategies such as mindfulness, distress tolerance, and radical acceptance skills to improve their acceptance level and alleviate the influence of depression on SI.

Theoretical analysis of currency reform and national governance challenges during the early Joseon Dynasty: A game theory approach.

During the early period of the Joseon Dynasty, the government undertook currency reform at both central and local levels to promote currency exchange and restructure market order. Drawing on historical sources and utilizing game theory methodologies, this study examines the challenges of state governance and the dynamics of central-local relations during this era. The findings suggest that the establishment of the Joseon Dynasty's governance system arose from the rulers' deliberate decisions; however, it was also driven by the necessity to reconcile the development of productive forces with the superstructure. The study highlights the impact of the "official" issue on communication efficiency between central and local authorities, which contributed to the currency reform's failure. Consequently, the central government's regulation and control over local regions, as well as its ability to govern the aspirations of grassroots populations, emerged as crucial factors for successful national governance. This research provides valuable insights into the academic value and significance of historical state governance practices and informs contemporary centrallocal relations and policy development.

Risk factors associated with tendon adhesions after hand tendon repair.

Background: Tendon adhesions after hand tendon repair are one of the most difficult complications of hand surgery and can cause severe disability. This study aimed to assess the risk factors associated with tendon adhesions after hand tendon repair to provide a theoretical foundation for the early prevention of tendon adhesions in patients with tendon injuries. Moreover, this study intends to increase doctors' awareness of the issue and serves as a reference for developing new prevention and treatment strategies. Methods: We retrospectively analyzed 1,031 hand trauma cases that underwent repair after finger tendon injury in our department between June 2009 and June 2019. Tendon adhesions, tendon injury zones, and other relevant information were collected, summarized, and analyzed. The significance of data was determined using a t-test or Pearson's chi-square test, and odds ratios (OR) were calculated using logistic regression tests to describe factors associated with post-tendon repair adhesions. Results: A total of 1,031 patients were enrolled in this study. There were 817 males and 214 females with an average age of 34.98 (2-82) years. The injured side included 530 left and 501 right hands. Postoperative finger tendon adhesions occurred in 118 cases (11.45%), including 98 males and 20 females, 57 left and 61 right hands. The risk factors for the total sample in the descending order were degloving injury, no functional exercise, zone II flexor tendon injury, time from injury to surgery >12 h, combined vascular injury, and multiple tendon injuries. The flexor tendon sample shared the same risk factors as the total sample. Risk factors for the extensor tendon sample were degloving injury, no functional exercise. Conclusions: Clinicians should pay close attention to patients with tendon trauma in hand having the following risk factors: degloving injury, zone II flexor tendon injury, lack of functional exercise, time from injury to surgery >12 h, combined vascular injury, and multiple tendon injuries. Due to the high risk of post-repair adhesions in patients with the conditions mentioned above, individualized treatment measures should be designed for the risk factors, and postoperative functional exercise of the hand is required.

Biocompatible polymers with tunable mechanical properties and conductive functionality on two-photon 3D printing.

Two-photon polymerization (TPP)-based 3D printing technology utilizes the two-photon absorption process of near-infrared radiation, enabling the fabrication of micro- and nano-scale three-dimensional structures with extremely high resolution. It has been widely applied in scientific fields closely related to living organisms, such as tissue engineering, drug delivery, and biosensors. Nevertheless, the existing photoresist materials have poor mechanical tunability and are hardly able to be doped with functional materials, resulting in constraints on the preparation of functional devices with micro-nano structures. In this paper, TPP printable polymer formulas with good mechanical tunability, high resolution, strong functional scalability, and excellent biocompatibility are proposed, by using the synergistic effects of a hydroxyl group-containing photocurable resin prepolymer, UV acrylate monomer, long-chain hydrophilic crosslinking monomer and photo-initiator. This can ensure the printability and help to improve the flexibility of the printed polymer, thereby solving the problem the photosensitive materials suitable for two-photon 3D printing in previous research had in balancing the formability and flexibility. The results of nanoindenter analysis showed that the Young's modulus of the printed structure can be adjusted between 0.3 GPa and 1.43 GPa, realizing mechanical tunability. Also, complex structures, such as micro-scaffold structures and high aspect ratio hollow microneedles were printed to explore the structural stability as well as the feasibility of biodevice application. Meanwhile, the proposed polymer formula can be functionalized to be conductive by doping with functional nanomaterial MXene. Finally, the biocompatibility of the proposed polymer formula was studied by culturing with human normal lung epithelial cells. The results indicated a good potential for biodevice applications.

GABRG2 Variants Associated with Febrile Seizures.

Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy. We found that among the GABAA receptor subunit (GABR) genes, most variants associated with FS are harbored in the γ2 subunit (GABRG2). Here, we characterized the effects of eight variants in the GABAA receptor γ2 subunit on receptor biogenesis and channel function. Two-thirds of the GABRG2 variants followed the expected autosomal dominant inheritance in FS and occurred as missense and nonsense variants. The remaining one-third appeared as de novo in the affected probands and occurred only as missense variants. The loss of GABAA receptor function and dominant negative effect on GABAA receptor biogenesis likely caused the FS phenotype. In general, variants in the GABRG2 result in a broad spectrum of phenotypic severity, ranging from asymptomatic, FS, genetic epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome individuals. The data presented here support the link between FS, epilepsy, and GABRG2 variants, shedding light on the relationship between the variant topological occurrence and disease severity.

The shape parameters of coal and gangue particles derived from 3D scanning.

The irregular shape of mineral particles directly affects the angle of repose, bulk density and flow-properties, and the interaction behaviour between the particles and a contact surface. This paper presents a dataset of spatial data and shape parameters collected from 37 gangue particles and 135 anthracite coal particles, which come from the Shangzhuang Coal Mine. The particle surface models were obtained by a Wiiboox white light raster 3D scanner and Reeyee software. To obtain the scanning surface, each particle was scanned 8 times in different axial rotation directions. The final scanning model was obtained by stacking two scanning surfaces, and the shape parameters, such as length ratio, flatness ratio, and Zingg index, were obtained. This dataset is particularly useful for researchers and engineers who want to investigate the shape of coal and gangue particles or who want to test or benchmark measurement methods concerning the three-dimensional morphology of particles.

Janus Carbon Nanotube@poly(butylene adipate-co-terephthalate) Fabric for Stable and Efficient Solar-Driven Interfacial Evaporation.

Solar-driven seawater desalination is considered a promising method for alleviating the water crisis worldwide. In recent years, significant efforts have been undertaken to optimize heat management and minimize salt blockage during solar-driven seawater desalination. However, it remains challenging to achieve an efficient and stable seawater evaporator simply and practically. Here, we designed and prepared a novel three-dimensional (3D) water channel evaporator (3D WCE) equipped with a Janus CNT@PBAT fabric (JCPF). The as-prepared Janus CNT@PBAT fabric has broad-band light absorption (∼97.8%), excellent superhydrophobicity (∼162°), and photothermal properties. After optimizing the structure of the thermal insulator, our designed evaporator could realize the equilibrium between enhanced thermal management and sufficient water supply. As a result, the as-prepared evaporator achieved an excellent evaporation rate of 1.576 kg·m-2·h-1 and an energy efficiency of over 92.7% under 1 sun irradiation in 3.5 wt % saline water. Moreover, this evaporator also revealed good salt rejection performance compared to the traditional two-dimensional (2D) water channel evaporator (2D WCE) in high saline water, which could maintain stable evaporation rates under long-term evaporation of 8 h. Our study may develop a simple method for the design and fabrication of a low-cost, effective, and stable solar-driven evaporator for seawater desalination.

[Correlation of neck circumference with body mass index in preschool children]. / å­¦é¾„å‰å„¿ç«¥é¢ˆå›´ä¸Žä½“é‡æŒ‡æ•°çš„ç›¸å ³æ€§.

OBJECTIVES: To study the correlation between neck circumference and body mass index and the value of neck circumference in identifying overweight and obesity in preschool children. METHODS: The stratified cluster sampling method was used to recruit 3 719 children under 7 years from 10 kindergartens in Urumqi, China. General data were collected, and physical measurements were performed. A Pearson correlation analysis was used to evaluate the correlation between neck circumference and body mass index. The receiver operating characteristic (ROC) curve was used to assess the accuracy of neck circumference in identifying overweight/obesity. The Kappa consistency test was used to assess the consistency of neck circumference and body mass index in identifying overweight/obesity. RESULTS: There was a positive correlation between neck circumference and body mass index in boys and girls of all ages (r≥0.50, P<0.001). According to body mass index as the criteria for overweight/obesity, the children were divided into an overweight/obesity group and a non-overweight/obesity group, and the analysis showed that the overweight/obesity group had a significantly larger neck circumference than the non-overweight/obesity group (P<0.001). The ROC curve analysis showed that neck circumference had an area under the ROC curve of >0.7 in identifying overweight/obesity for boys and girls. The Kappa consistency test showed that the neck circumference and body mass index had a Kappa value of >0.40 in identifying overweight/obesity in boys and girls of all ages. CONCLUSIONS: Neck circumference is positively correlated to body mass index, and neck circumference can be used to identify overweight/obesity in preschool children.

Repeated long sessions of transcranial direct current stimulation reduces seizure frequency in patients with refractory focal epilepsy: An open-label extension study.

OBJECTIVE: Although clinical trials have demonstrated that cathodal transcranial direct current stimulation (tDCS) is effective for seizure reduction, its long-term efficacy is unknown. This study aimed to determine the long-term effects of repeated cathodal long tDCS sessions on seizure suppression in patients with refractory epilepsy. METHODS: Patients were recruited to participate in an extended phase of a previous randomized, double-blind, sham-controlled, three-arm, parallel, multicenter study on tDCS. The patients were divided into an active tDCS group (20 min of tDCS per day) and an intensified tDCS group (2 × 20 min of tDCS per day). Each tDCS session lasted 2 weeks and the patients underwent repeated sessions at intervals of 2 to 6 months. The cathode was placed over the epileptogenic focus with the current intensity set as 2 mA. Seizure frequency reduction from baseline was analyzed using the Wilcoxon signed-rank test for two related samples. A generalized estimating equation model was used to estimate group, time, and interaction effects. RESULTS: Among the 19 patients who participated in the extended phase, 11 were in the active tDCS group and underwent 2-16 active tDCS sessions, and eight were in the intensified tDCS group and underwent 3-11 intensified tDCS sessions. Seizure reduction was significant from the first to the seventh follow-up, with a median seizure frequency reduction of 41.7%-83.3% (p < 0.05). Compared to the regular tDCS protocol, each intensified tDCS session substantially decreased seizure frequency by 0.3680 (p < 0.05). One patient experienced an increase of 8.5%-232.8% in the total number of seizures during three treatment sessions and follow-ups. CONCLUSION: Repeated long cathodal tDCS sessions yielded significant and progressive long-term seizure reductions in patients with refractory focal epilepsy.

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants.

Whole-exome sequencing (WES) in the clinic has identified several rare monogenic developmental and epileptic encephalopathies (DEE) caused by ion channel variants. However, WES often fails to provide actionable insight for rare diseases, such as DEEs, due to the challenges of interpreting variants of unknown significance (VUS). Here, we describe a "personalized structural biology" (PSB) approach that leverages recent innovations in the analysis of protein 3D structures to address this challenge. We illustrate this approach in an Undiagnosed Diseases Network (UDN) individual with DEE symptoms and a de novo VUS in KCNC2 (p.V469L), the Kv3.2 voltage-gated potassium channel. A nearby KCNC2 variant (p.V471L) was recently suggested to cause DEE-like phenotypes. Computational structural modeling suggests that both affect protein function. However, despite their proximity, the p.V469L variant is likely to sterically block the channel pore, while the p.V471L variant is likely to stabilize the open state. Biochemical and electrophysiological analyses demonstrate heterogeneous loss-of-function and gain-of-function effects, as well as differential response to 4-aminopyridine treatment. Molecular dynamics simulations illustrate that the pore of the p.V469L variant is more constricted, increasing the energetic barrier for K+ permeation, whereas the p.V471L variant stabilizes the open conformation. Our results implicate variants in KCNC2 as causative for DEE and guide the interpretation of a UDN individual. They further delineate the molecular basis for the heterogeneous clinical phenotypes resulting from two proximal pathogenic variants. This demonstrates how the PSB approach can provide an analytical framework for individualized hypothesis-driven interpretation of protein-coding VUS.

Family functioning and adolescent depression: A moderated mediation model of self-esteem and peer relationships.

In consideration of family system theory, the vulnerability model of depression, and the stress buffering model of social support, the current study examined the effect of family functioning on adolescent depression, the mediating effect of self-esteem, and the moderating effect of peer relationships. A sample of Chinese adolescents (n = 562, 47.15% male, 52.85% female, mean age 14.33 years, SD = 1.81 years) completed questionnaires regarding family functioning, depression, self-esteem, and peer relationships. The results showed that: (1) family functioning had a significant negative predictive effect on adolescent depression; (2) self-esteem plays a mediating role between family functioning and adolescent depression; and (3) peer relationships have a moderating effect on the relationship between self-esteem and adolescent depression, supporting the moderated mediation model. These results reveal the influence mechanism of family functioning on adolescent depression and have implications for adolescent depression intervention.

Improved Antimicrobial Ability of Dressings Containing Berberine Loaded Cellulose Acetate/Hyaluronic Acid Electrospun Fibers for Cutaneous Wound Healing.

An urgent problem in nursing care is the rising threat of cutaneous wound infections caused by harmful bacteria. In this study, we fabricated a series of cellulose acetate-hyaluronic acid (CA/HA) electrospun fibers loaded with berberine (BBR) using the electrospinning method to determine their antimicrobial performance and potential in in vivo skin wound dressing applications. The BBR-loaded CA/HA electrospun fibers (CA/HA/BBR) were analyzed using scanning electron and Fourier transform infrared microscopies; moreover, their mechanical properties were examined. The analyses demonstrated an average fiber diameter of 502 ± 50 nm; the tensile strength, Young's modulus, and break elongation of CA/HA electrospun fibers were approximately 3.23 ± 0.08 MPa, 17.5 ± 0.03 MPa, and 28.4%, respectively, whereas these values for CA/HA/BBR electrospun fibers were 238 ± 39 nm and 2.99 ± 0.05 MPa, 12.3 ± 0.04 MPa, and 47.8%, respectively. Antimicrobial evaluation of the CA/HA/BBR electrospun fibers demonstrated that the dressings made from these fibers exhibited greater antimicrobial efficacy (>95%) against Staphylococcus aureus and Escherichia coli when compared to that made from CA/HA (>80%) electrospun fibers. In vitro experiments showed that BBR loaded CA/HA electrospun fiber scaffolds have highly enhanced cell viability (>99) and proliferation of L929 fibroblastic cells after 7 days of incubation. In addition, in vivo evaluations in rats showed that the as-fabricated CA/HA/BBR bandage decreased wound size; moreover, it had accelerated healing ability (>95%) and collagen development with increasing treatment duration. These results showed that the addition of BBR enhanced the bioactivity of the dressing without damaging its physical characteristics. Thus, nanostructured dressing made of CA/HA/BBR electrospun fibers has excellent potency for tissue repair in nursing care.

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.

Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1, consisting of two variants, namely c.191T>C (p.Leu64Pro) and c.5124G>A (p.Leu1708=) in the proband. In vitro study by minigene system indicated that c.5124G>A would result in an increased ratio of a transcript with exon-skipping, which supported its pathogenicity. Further prenatal detection confirmed the genotype-phenotye co-separation in this family. In conclusion, the findings in our study expanded the mutation spectrum of DEB, and emphasized the importance of paying attention to specific synonymous variants in the filtering process.