Risk Factors of Chylothorax After Congenital Heart Surgery in Infants: A Single-Centre Retrospective Study.

Background: Studies of chylothorax after congenital heart disease in infants are rare. Chylothorax has a higher incidence in infancy, but its risk factors are not well understood. Objective: The purpose of this study is to investigate the risk factors of chylothorax after congenital heart surgery in infants. Methods: This retrospective study included 176 infants who underwent congenital heart disease surgery at the Guangdong Cardiovascular Institute, China, between 2016 and 2020. According to the occurrence of chylothorax, the patients were divided into a control group (n = 88) and a case group (n = 88). Univariate and multivariate logistic regression were performed to analyse the incidence and influencing factors of chylothorax after congenital heart surgery in infants. Results: Between 2016 and 2020, the annual incidence rate fluctuated between 1.55% and 3.17%, and the total incidence of chylothorax was 2.02%. Multivariate logistic regression analysis showed that postoperative albumin (p = 0.041; odds ratio [OR] = 0.095), preoperative mechanical ventilation (p = 0.001; OR = 1.053) and preterm birth (p = 0.002; OR = 5.783) were risk factors for postoperative chylothorax in infants with congenital heart disease. Conclusion: The total incidence of chylothorax was 2.02% and the annual incidence rate fluctuated between 1.55% and 3.17% between 2016 and 2020. Premature infants, longer preoperative mechanical ventilation and lower albumin after congenital heart surgery may be risk factors for chylothorax. In addition, infants with chylothorax are inclined to be infected, need more respiratory support, use a chest drainage tube for longer and remain longer in hospital.

Age and duration of hypertension are associated with carotid artery tortuosity.

Objective: Tortuosity of the carotid artery is a common angiographic finding that may impact blood flow and neuronal function. However, information on its prevalence and risk factors remains limited. In this study, we determined to explore the factors affecting carotid artery tortuosity. Methods: The head and neck computed tomography angiography (CTA) imaging and cerebral angiography data performed at the Second Affiliated Hospital of Wenzhou Medical University between January 2019 and September 2021 were collected, and a total of 356 cases were enrolled in the study after screening. Carotid artery tortuosity refers to the angle between the two adjacent segments of the carotid artery, from the opening of the aortic arch on either side to the external orifice of the carotid canal, being less than 150°. A retrospective analysis was performed to compare the general information, laboratory indicators, personal history, and medical history between the two groups. The χ2 test, t-test, and Mann-Whitney U-test were performed to compare the parameters between the two groups. If there were significant differences between the groups, multivariate logistic regression was performed to analyze the factors affecting carotid artery tortuosity. Results: A total of 222 of the 356 cases were determined to have carotid artery tortuosity, accounting for 63.6%. There were statistically significant differences in age, body mass index (BMI), duration of diabetes and hypertension, levels of low-density lipoprotein cholesterol (LDL-C), diastolic blood pressure, history of ischemic and hemorrhagic stroke, and the usage of antihypertensive drugs between the two groups. Multivariate logistic regression analysis of the above factors showed that age (OR = 5.063, 95% CI 2.963-10.26, p < 0.001) and duration of hypertension (OR = 2.356, 95% CI 1.353-8.625, p = 0.021) were associated with a higher incidence of carotid artery tortuosity. Compared to patients who did not consume antihypertensive drugs, the incidence of carotid artery tortuosity was significantly less (OR = 0.094, 95% CI 0.002-0.713, p = 0.019) in those consuming antihypertensive drugs. Conclusion: Carotid artery tortuosity is a relatively common carotid artery disease. The incidence of carotid artery tortuosity may increase with age and the duration of hypertension. The consumption of antihypertensive drugs may reduce the incidence of carotid artery tortuosity.

Abnormal developmental of structural covariance networks in young adults with heavy cannabis use: a 3-year follow-up study.

Heavy cannabis use (HCU) exerts adverse effects on the brain. Structural covariance networks (SCNs) that illustrate coordinated regional maturation patterns are extensively employed to examine abnormalities in brain structure. Nevertheless, the unexplored aspect remains the developmental alterations of SCNs in young adults with HCU for three years, from the baseline (BL) to the 3-year follow-up (FU). These changes demonstrate dynamic development and hold potential as biomarkers. A total of 20 young adults with HCU and 22 matched controls were recruited. All participants underwent magnetic resonance imaging (MRI) scans at both the BL and FU and were evaluated using clinical measures. Both groups used cortical thickness (CT) and cortical surface area (CSA) to construct structural covariance matrices. Subsequently, global and nodal network measures of SCNs were computed based on these matrices. Regarding global network measures, the BL assessment revealed significant deviations in small-worldness and local efficiency of CT and CSA in young adults with HCU compared to controls. However, no significant differences between the two groups were observed at the FU evaluation. Young adults with HCU displayed changes in nodal network measures across various brain regions during the transition from BL to FU. These alterations included abnormal nodal degree, nodal efficiency, and nodal betweenness in widespread areas such as the entorhinal cortex, superior frontal gyrus, and parahippocampal cortex. These findings suggest that the topography of CT and CSA plays a role in the typical structural covariance topology of the brain. Furthermore, these results indicate the effect of HCU on the developmental changes of SCNs in young adults.

Berberine interferes with RSV infection of HEp-2 cells by inducing mitophagy autophagy / 中国药理学通报

Aim To explore the effect of berberine (B E) on RSV infected HEp-2 cells and the related mechanism. Methods HEp-2 cells were infected with RSV and treated with BE. Cell viability was assessed using the CCK-8 assay. Protein expression levels of NLRP3, ASC, caspase-1, PINK1, Parkin, Beclinl, p62, LC3 I,LC3 II,and BNIP3 in HEp-2 cells were detected by Western blot. The secretion level of IL-1 p in HEp-2 cells was measured using ELISA. Apoptosis rate and mitochondrial membrane potential of HEp-2 cells were examined by flow cytometry. Mitochondrial ROS (mtROS) in HEp-2 cells was detected through MitoSOX staining. Colocalization of mitochondria and autophagosomes in HEp-2 cells was investigated using immunofluorescence staining. Cyclosporin A was used for validation experiments. Results BE could significantly improve the activity of RSV-infected HEp-2 cells,reduce the apoptosis rate (P < 0. 05), and decrease the activation level of NLRP3 inflammasomes and IL-lp level (P <0. 05); BE improved mitochondrial function by increasing mitochondrial membrane potential and ATP levels,and reduced mtROS. BE significantly promoted the colocalization of mitochondria-autophagosome in RSV infected cells, inducing PINK1/ Parkin and BNIP3 to mediate mitochondrial autophagy; cyclosporine A aggravated RSV infection. Conclusions BE has protective effects on HEp-2 cells infected by RSV. The mechanism may be related to the inhibitory effect of BE on the production of mtROS and the activation of NLRP3 inflammasomes by inducing PINK1/ Parkin and BNIP3-mediated mitochondrial autophagy.

Anthraquinone-Based Silicate Covalent Organic Frameworks as Solid Electrolyte Interphase for High-Performance Lithium-Metal Batteries.

Lithium (Li)-metal batteries (LMBs) possess the highest theoretical energy density among current battery designs and thus have enormous potential for use in energy storage. However, the development of LMBs has been severely hindered by safety concerns arising from dendrite growth and unstable interphases on the Li anode. Covalent organic frameworks (COFs) incorporating either redox-active or anionic moieties on their backbones have high Li-ion (Li+) conductivities and mechanical/chemical stabilities, so are promising for solid electrolyte interphases (SEIs) in LMBs. Here, we synthesized anthraquinone-based silicate COFs (AQ-Si-COFs) that contained both redox-active and anionic sites via condensation of tetrahydroxyanthraquinone with silicon dioxide. The nine Li+-mediated charge/discharge processes enabled the AQ-Si-COF to demonstrate an ionic conductivity of 9.8 mS cm-1 at room temperature and a single-ion-conductive transference number of 0.92. Computational studies also supported the nine Li+ mechanism. We used AQ-Si-COF as the solid electrolyte interphase on the Li anode. The LMB cells with a LiCoO2 cathode attained a maximum reversible capacity of 188 mAh g-1 at 0.25 C during high-voltage operation. Moreover, this LMB cell demonstrated suppressed dendrite growth and stable cyclability, with its capacity decreasing by less than 3% up to 100 cycles. These findings demonstrate the effectiveness of our redox-active and anionic COFs and their practical utility as SEI in LMB.

IGSF6 is a novel biomarker to evaluate immune infiltration in mismatch repair-proficient colorectal cancer.

Immunotherapy has dramatically changed the landscape of treatment for colorectal cancer (CRC), but currently lack of effective predictive biomarker, especially for tumors with mismatch repair (MMR) proficiency. The response of immunotherapy is associated with the cell-cell interactions in tumor microenvironment, encompassing processes such as cell-cell recognition, binding, and adhesion. However, the function of immunoglobulin superfamily (IGSF) genes in tumor immune microenvironment remains uncharacterized. This study quantified the immune landscape by leveraging a gene expression matrix from publicly accessible databases. The associations between IGSF6 gene expression and immune cell infiltration were assessed. The expression levels of IGSF6, CD8+ T cells, CD4+ T cells and CD68+ macrophage cells in cancer tissues from CRC patients and CRC cell lines were evaluated. IGSF6 was more highly expressed in CRC tumor tissues than adjacent normal tissues. And IGSF6 was significantly correlated with immune cell infiltration in MMR-proficient patients. Remarkably, MMR-proficient patients with high IGSF6 expression showed more sensitive to immunotherapy and chemotherapy than those with low IGSF6 expression. In summary, IGSF6 could be a novel biomarker to evaluate immune infiltration and predict therapeutic effect for MMR-proficient CRC.

Tongxinluo promotes endothelium-dependent arteriogenesis to attenuate diabetic peripheral arterial disease.

BACKGROUND: Peripheral arterial disease (PAD) has become one of the leading causes of disa-bility and death in diabetic patients. Restoring blood supply to the hindlimbs, especially by promoting arteriogenesis, is currently the most effective strategy, in which endothelial cells play an important role. Tongxinluo (TXL) has been widely used for the treatment of cardio-cerebrovascular diseases and extended for diabetes-related vascular disease. AIM: To investigate the effect of TXL on diabetic PAD and its underlying mechanisms. METHODS: An animal model of diabetic PAD was established by ligating the femoral artery of db/db mice. Laser Doppler imaging and micro-computed tomography (micro-CT) were performed to assess the recovery of blood flow and arteriogenesis. Endothelial cell function related to arteriogenesis and cellular pyroptosis was assessed using histopathology, Western blot analysis, enzyme-linked immuno-sorbent assay and real-time polymerase chain reaction assays. In vitro, human vascular endothelial cells (HUVECs) and human vascular smooth muscle cells (VSMCs) were pretreated with TXL for 4 h, followed by incubation in high glucose and hypoxia conditions to induce cell injury. Then, indicators of HUVEC pyroptosis and function, HUVEC-VSMC interactions and the migration of VSMCs were measured. RESULTS: Laser Doppler imaging and micro-CT showed that TXL restored blood flow to the hindlimbs and enhanced arteriogenesis. TXL also inhibited endothelial cell pyroptosis via the reactive oxygen species/nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing 3/Caspase-1/GSDMD signaling pathway. In addition, TXL restored endothelial cell functions, including maintaining the balance of vasodilation, acting as a barrier to reduce inflammation, and enhancing endothelial-smooth muscle cell interactions through the Jagged-1/Notch-1/ephrin-B2 signaling pathway. Similar results were observed in vitro. CONCLUSION: TXL has a pro-arteriogenic effect in the treatment of diabetic PAD, and the mechanism may be related to the inhibition of endothelial cell pyroptosis, restoration of endothelial cell function and promotion of endothelial cell-smooth muscle cell interactions.

Echinococcus granulosus cyst fluid(EgCF) inhibits the migration and phagocytic function of mouse macrophages induced by LPS via inducing cytoskeletal rearrangement / 细胞与分子免疫学杂志

Objective To investigate the effect of Echinococcus granulosus cyst fluid(EgCF) on the cytoskeletal rearrangement and phagocytosis and the migration of macrophages induced by lipopolysaccharide(LPS). Methods Peritoneal macrophages of C57BL/6 mice were isolated and cultured in vitro, and divided into control group and LPS group and LPS combined with EgCF group. After 48 hours of treatment, filamentous actin (F-actin) changes were observed with rhodamine-labelled phalloidin staining and fluorescence microscopy; TranswellTM chamber was used to test cell migration ability and flow cytometry to test cell phagocytosis. After 1 hour of treatment, PI3K and AKT, phosphorylated AKT (p-AKT), Rac1, guanosine triphospho-Rac1 (GTP-Rac1), WASP and Arp2 protein expressions were detected with Western blot analysis. Results Compared with the control group, after LPS stimulation, macrophages were deformed significantly; pseudopodia increased; actin cytoskeleton increased and was more distributed in pseudopodia; the ability of migration and phagocytosis were significantly improved, and the expression of PI3K, p-AKT, GTP-Rac1, WASP and Arp2 proteins significantly increased. EgCF treatment caused cell shrinkage and disappearance of pseudopodia protrusions of LPS-activated cells, and led to the reduced phagocytic and migratory of cells; the protein expression of PI3K, p-AKT, GTP-Rac1, WASP and Arp2 decreased significantly compared with the LPS group. Conclusion LPS induces the migration and enhances phagocytosis of macrophages while EgCF inhibits these effects, which is related to actin cytoskeleton rearrangement.

Comparison of efficacy and safety of rituximab at different doses in the treatment of idiopathic membranous nephropathy / 中华肾脏病杂志

It was a retrospective cohort study. Patients diagnosed with idiopathic membranous nephropathy (IMN) and received rituximab (RTX) alone for one course of treatment during hospitalization in the Department of Nephrology of the First Hospital of Jilin University from March 2020 to March 2022 were enrolled. The patients were divided into 1 g standard treatment group (once 1 g every 2 weeks for twice) and 375 mg/m 2 experimental treatment group (375 mg/m 2 once a week for 4 weeks) according to the different methods of drug administration, and the efficacy and safety of different doses of RTX in the treatment of IMN were compared between the two groups to provide a reference for optimizing the clinical treatment protocol. The patients were followed up regularly for more than 9 months after treatment and the data were complete. A total of 69 patients were included with age of (51.7±11.8) years old, and 46 males (66.7%). There were 31 patients in the 1 g standard treatment group and 38 patients in the 375 mg/m 2 experimental treatment group. The proportion of first-treatment patients in the 1 g standard treatment group was higher than that in the 375 mg/m 2 experimental treatment group (87.1% vs. 65.8%, χ2=4.174, P=0.041). There were no statistically significant differences in the general data, clinical characteristics and baseline laboratory parameters between the two groups (all P>0.05). At the end of 3 months of treatment, 22 patients (31.9%) experienced remission, including 9 patients (29.0%) in the 1 g standard treatment group and 13 patients (34.2%) in the 375 mg/m 2 experimental treatment group ( χ2=0.211, P=0.646). At 6 months, 30 patients (43.5%) experienced remission, including 12 patients (38.7%) in the 1 g standard treatment group and 18 patients (47.4%) in the 375 mg/m 2 experimental treatment group ( χ2=0.521, P=0.470). At 9 months, 38 patients (55.1%) achieved remission, including 18 patients (58.1%) in the 1 g standard treatment group and 20 patients (52.6%) in the 375 mg/m 2 experimental treatment group ( χ2=0.204, P=0.652). At 9 months, the 24 h urine protein of 1 g standard treatment group and 375 mg/m 2 experimental treatment group decreased by 7.93 (6.24, 8.46) g and 7.45 (5.66, 8.67) g (both P<0.05), respectively, and serum albumin increased by 16.4 (15.5, 17.5) g/L and 15.5 (9.0, 15.8) g/L (both P<0.05), respectively, from the baseline value. Kaplan-Meier survival analysis result showed that there was no significant difference in the time of phospholipase A2 receptor titer decreasing to <5 RU/ml between the two groups (Log-rank χ2=3.653, P=0.056). Twenty-three non-serious adverse events occurred in the 1 g standard treatment group, involving 16 patients, and 10 non-serious adverse events occurred in the 375 mg/m 2 experimental treatment group, involving 10 patients. There was better safety in the 375 mg/m 2 experimental treatment group than that in the 1 g standard treatment group ( Fisher value=8.593, P=0.015). Both 375 mg/m 2 regimen and 1 g regimen of RTX in IMN patients are effective in relieving proteinuria and elevating serum albumin. The 375 mg/m 2 regimen of RTX has a lower incidence of adverse events compared with the 1 g regimen.

Research progress on the osteosarcopenia / 中华内分泌代谢杂志

Osteosarcopenia is a geriatric disease in which sarcopenia and osteoporosis coexist. With the aging, the incidence of osteosarcopenia will increase significantly in the next few decades, with adverse consequences including a higher risk of falls, fractures, weakness, and death. Early diagnosis and intervention of osteosarcopenia are of great significance in improving the quality of life of the elderly. This article reviews the diagnosis, molecular mechanisms, adverse consequences, and possible treatment options for osteosarcopenia.

De novo brain arteriovenous malformation formation and development: A case report.

BACKGROUND: Brain arteriovenous malformation (AVM), an aberrant vascular development during the intrauterine period, is traditionally considered a congenital disease. Sporadic reports of cases of de novo AVM formation in children and adults have challenged the traditional view of its congenital origin. CASE SUMMARY: In this report, we have presented the case of a child with a de novo brain AVM. Magnetic resonance imaging and magnetic resonance angiography of the brain showed no AVM at the age of 5 years and 2 mo. Brain AVM was first detected in this child at the age of 7 years and 4 mo. The brain AVM was significantly advanced, and hemorrhage was seen for the first time at the age of 12 years and 8 mo. There was further progression in the AVM, and hemorrhage occurred again at the age of 13 years and 5 mo. Genetic analysis of this patient revealed a mutation in the NOTCH2 (p.Asp473Val) gene. CONCLUSION: In short, our case has once again confirmed the view that brain AVM is an acquired disease and is the result of the interaction of genes, environment, and molecules.

Semiconductor-to-metal transition from monolayer to bilayer blue phosphorous induced by extremely strong interlayer coupling: a first-principles study.

Monolayer blue phosphorous has a large band gap of 2.76 eV but counterintuitively the most stable bilayer blue phosphorous has a negative band gap of -0.51 eV. Such a large band gap reduction from just monolayer to bilayer has not been revealed before, the underlying mechanism behind which is important for understanding interlayer interactions. In this work, we reveal the origin of the semiconductor-to-metal transition using first-principles calculations and tight-binding models. We find that the interlayer interactions are extremely strong, which can be attributed to the short layer distance and strong π-like atomic orbital couplings. Therefore, the upshift of the valence band maximum (VBM) from monolayer to bilayer blue-P is so large that the VBM in the bilayer gets higher than the conduction band minimum, leading to a negative band gap and an energy gain. Besides, the interlayer atomic misplacements weaken the couplings of out-of-plane orbitals. Therefore, the energy gain due to the semiconductor-to-metal transition is larger than the energy cost due to interlayer repulsions, thus stabilizing the metallic phase. The large band gap reduction with layer number increasing is expected to exist in other similar layered systems.

Bazi Bushen Capsules on Anti-aging： A Review / 中国实验方剂学杂志

The decline of body function and senile diseases caused by aging seriously affect human health and life span， which is an important topic in the field of life science. Bazi Bushen capsules is a representative Chinese patent medicine for tonifying essence， invigorating Qi and anti-aging， guided by Qiluo doctrine， and essence， Qi and spirit theory. Previous pharmacological and clinical studies have confirmed that this preparation has the comprehensive advantages of anti-aging， and prevention and treatment of aging-related diseases. Among them， pharmacological studies showed that Bazi Bushen capsules had the effect of improving the appearance status of mice， improving the level of sex hormones， inhibiting the formation of atherosclerosis， improving cardiac function， improving learning and memory cognitive ability， improving neurological function， improving osteoporosis and muscle function， improving sperm count and quality. The mechanism was related to the up-regulation of the recombinant sirtuin （SIRT6） level， down-regulation of the levels of aging-related proteins p53 and p16， up-regulation of telomerase reverse transcriptase level， and alleviation of inflammation and oxidative response. Clinical studies have proved that it can improve the symptoms of patients with kidney essence deficiency， improve exercise ability， and improve the sexual function of impotence patients. Anti-aging research of Bazi Bushen capsules based on Qiluo doctrine fully embodies the new mode of academic innovation and transformation of traditional Chinese medicine （TCM） with the combination of "theory-new drug-experiment-clinic"， which has made a demonstration for the anti-aging research of TCM.

Research on Anti-aging Guided by Qiluo Doctrine / 中国实验方剂学杂志

Along with increasing degree of population aging globally， senility， good health and long life have become the focus of the world. Guided by Qiluo doctrine， an essence， Qi and spirit theory is proposed as below， essence is the origin of life， Qi is the impetus of life and spirit is the embodiment of life. Based on holistic view of kidney deficiency involving the five internal organs and injuries of the five internal organs definitely affecting the kidney， a mechanism of aging is proposed as below， deficiency of kidney essence is the foundation of aging， deficiency of promordial Qi is the key of aging and physical and spiritual loss is the manifestation of aging. It provides a theoretical guidance for anti-aging study of rejuvenating the elderly and making the strong person stronger. By virtue of the experiences in kidney-tonifying medication accumulated for more than two thousand years， Bazi Bushen capsules has been developed， which has anti-aging efficacy， including tonifying kidney， replenishing essence， coordinating Yin and Yang， supplementing primordial Qi and nourishing body and spirit. Experimental researches have demonstrated that Bazi Bushen capsules can improve overall aging and systemic aging， as well as prevent and treat aging related diseases. Preliminary clinical studies demonstrate that this capsules can enhance athletic ability and improve sexual function， and is expected to become a representative Chinese patent medicine of anti-aging. This paper addresses aging and anti-aging on the basis of Qiluo doctrine， in the hope of helping prevention and treatment of aging related diseases.

Berberine affects activity of HSV-1 virus infected HEp-2 cells and its molecular mechanism / 中国药理学通报

Aim To discuss the effect of berberine ( BE) on the activity of HSV-1 virus infected HEp-2 cells and its related molecular mechanisms.Methods Hie infected cell model was constructed and divided into control group, infection group, low concentration group ( 5 (xmol • L 1 -BE) , medium concentration group ( 10 (xmol • L '-BE) and high concentration group ( 15 (xmol • L '-BE) ) , and then incubated for 24 hours.qRT-PCR was used to determine HSV-1 infection-related genes ( gD, ICP-4, ICP-8, ICP-27 ) and mRNA expression levels of LncBNA NRAV, miR- 299-3p, RAB5C.CCK-8 method and flow cytometry were applied to detect cell viability and apoptotic rate.The expression levels of PI3K/AKT signaling pathway and JNK/p38 MAPK signaling pathway related protein were analysed by WB.Results It was found that BE j j reduced the mRNA expression of gD, ICP-4, ICP-8, anrl ICP-27, improved cell viability, and inhibited eell apoptosis.BE promoted the expression of miR-299-3p by inhibiting LncRNA NRAV and RAB5C.BE inhibited the protein expression levels of PBK/AKT signaling pathway and JNK/p38 MAPK signaling pathway proteins PI3K, AKT, JNK, and P38.Conclusions The mechanism that BE enhances the activity of HEp-2 cells after HSV-1 infection and suppresses its apoptosis may be related to LncRNA NRAV and RAB5C targeting competitive binding to miH-299-3p, inhibiting the activation of PBK/AKT signaling pathway and JNK/ p38 MAPK signaling pathway.

Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3.

Background: GLI-Kruppel family member 3 (GLI3), a zinc finger transcription factor of the sonic hedgehog pathway, is essential for organ development. Mutations in GLI3 cause several congenital conditions, including Pallister-Hall syndrome (PHS), which is characterized by polydactyly and hypothalamic hamartoma. Most patients are diagnosed soon after birth, and surgical removal of hypothalamic hamartoma in the very young is rarely performed because of associated risks. Case presentation: A 7-month-old boy with PHS features, including a suprasellar lesion, bifid epiglottis, tracheal diverticulum, laryngomalacia, left-handed polydactyly and syndactyly, and omental hernia was referred to our service. His suprasellar lesion was partially removed, and whole-exome sequencing was applied to the resected tumor, his peripheral blood, and blood from his parents. Histopathology confirmed the diagnosis of hypothalamic hamartoma, and molecular profiling revealed a likely pathogenic de novo variant, c.2331C>G (p. H777Q), in GLI3. Magnetic resonance imaging follow-up 1 year later showed some residual tumor, and the patient experienced normal development post operation. Conclusions: We presented a case of PHS that carries a novel GLI3 variant. Hypothalamic hamartoma showed a distinct genetic landscape from germline DNA. These data offer insights into the underlying etiology of hypothalamic hamartoma development in patients with PHS.

[Diversity of Zooplankton and Niche Characteristics of Keystone Species in the Weihe River Based on eDNA].

Environmental DNA(eDNA), a new tool for monitoring the biodiversity of aquatic ecosystems, is able to analyze characteristics of biodiversity from a microscopic perspective. Based on eDNA data collected from the Weihe River, diversity indexes, non-metric multidimensional scaling, cluster analysis, and correlation network analysis were employed to explore the diversity and community structure of zooplankton focusing on the niche differentiation of keystone species and environmental adaptability. The eDNA approach identified three types of zooplankton including Rotifera, Cladocera, and Copepoda, among which the dominant species was Brachionus calyciflorus. The zooplankton community shows significant differences in species composition, abundance, diversity and spatial distribution characteristics(P<0.01). The average values of the Chao1 index, ACE index, Shannon index, and Simpson index were 22.25, 22.38, 2.32, and 0.68, respectively. The downstream biodiversity is significantly higher than in the upstream area. Non-metric multidimensional scale analysis and hierarchical cluster analysis further showed that the zooplankton community structure shows distinct regional differences. The keystone species in the community have a high degree of connection with other species, with a high node degree, centrality, and modularity. The niche breadth(Bi) of the operational taxonomic units(OTUs) of the keystone species varied from 0.38 to 0.80. The medium niche species accounted for 63% of all keystone species. The average niche overlap index(Qik) was 0.72, and the degree of overlap was generally high. RDA analysis further identified that water environmental variables were closely related to changes in the zooplankton community structure and niche differentiation. For example, total nitrogen and water temperature were the main limiting factors, which play important roles in shaping the zooplankton community structure.

Unusual interlayer coupling in layered Cu-based ternary chalcogenides CuMCh2 (M = Sb, Bi; Ch = S, Se).

Interlayer interactions play important roles in manipulating the electronic properties of layered semiconductors. One common mechanism is that the valence band maximum (VBM) and the conduction band minimum (CBM) in one layer couple to the VBM and CBM in another layer, respectively, resulting in the decrease of the band gap from the monolayer to the bilayer. Here we report an unusual interlayer coupling mechanism in layered Cu-based ternary chalcogenides CuMCh2 (M = Sb, Bi; Ch = S, Se) that the CBM in one layer strongly couples to the VBM in the other layer, leading to the band gap increase from the monolayer to the bilayer. Such an unusual interlayer interaction arises from the entangling between the electronic structures and the structures of CuMCh2 in which the cations M and anions Ch are alternatively arranged at the outmost part of each layer. Consequently, the M atom at the bottom of the upper layer is very close to the Ch atom at the top of the bottom layer, so that the orbitals of the M atom which dominate the CBM can strongly couple to the orbitals of the Ch atom which dominate the VBM, as demonstrated by the orbital hopping integrals obtained from the Wannier function analysis. The exceptional case of the unusual interlayer interaction revealed in this work enriches the diversity of the interlayer interactions in layered materials and is expected to exist in similar layered systems in which cations and anions are alternatively arranged at the outmost part of each layer.

Rapid Clot Reduction with Direct Aspiration via 8-F Guide Catheter for Cardioembolic Extracranial Carotid Artery Occlusion: A Guide Catheter Aspiration Technique.

This study reported data that were collected from 11 consecutive patients undergoing treatment for acute cardioembolic extracranial carotid artery (ECCA) occlusion with extensive clot burden via the guide catheter aspiration (GCA) technique. The GCA technique was performed as a direct aspiration using 2 60-mL syringes simultaneously through an 8-F guide catheter. Successful reperfusion was achieved in all 11 patients at the end of thrombectomy, and successful reperfusion was observed in 4 patients after a single GCA procedure pass. A favorable clinical outcome was achieved in 6 (54.5%) cases after 90 days. Thus, the GCA technique is efficacious for patients with cardioembolic ECCA occlusions.

Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block.

Atrioventricular block (AVB) is a leading cause of sudden cardiac death, and most of AVB cases are presented as autosomal dominant. The electrocardiogram of AVB patients presents an abnormal progressive cardiac conduction disorder between atria and ventricles. Transient receptor potential melastatin 4 (TRPM4) is a nonselective Ca2+-activated cation channel gene defined as a novel disease-causing gene of AVB. So far, 47 mutations of TRPM4 have been recorded in Human Gene Mutation Database. The aim of this study was to explore the relationship between TRPM4 mutation and pathogenesis of AVB. We investigated a Chinese family with AVB by whole-exome sequencing. An arrhythmia-related gene filtering strategy was used to analyze the disease-causing mutations. Three different bioinformatics programs were used to predict the effects of the mutation result. A novel mutation of TRPM4 was identified (c.2455C>T/p.R819C) and cosegregated in the affected family members. The three bioinformatics programs predicted that the novel mutation may lead to damage. Our study will contribute to expand the spectrum of TRPM4 mutations and supply accurate genetic testing information for further research and the clinical therapy of AVB.