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The short pre-M1 helix within the S1–M1 linker (also referred to as the pre-M1 linker) between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the NMDA receptor (NMDAR) is devoid of missense variants within the healthy population but is a locus for de novo pathogenic variants associated with neurological disorders. Several de novo variants within this helix have been identified in patients presenting early in life with intellectual disability, developmental delay, and/or epilepsy. In this study, we evaluated functional properties for twenty variants within the pre-M1 linker in GRIN1, GRIN2A, and GRIN2B genes, including six novel missense variants. The effects of pre-M1 variants on agonist potency, sensitivity to endogenous allosteric modulators, response time course, channel open probability, and surface expression were assessed. Our data indicated that virtually all of the variants evaluated altered channel function, and multiple variants had profound functional consequences, which may contribute to the neurological conditions in the patients harboring the variants in this region. These data strongly suggest that the residues within the pre-M1 helix play a key role in channel gating and are highly intolerant to genetic variation. [ABSTRACT FROM AUTHOR]

Using the 25-h continuing hydrographic observations at three successive stations in February 2012 and the mooring time series of current observations from January to March 2015, the tidal currents and tidal energy fluxes in the coastal waters east of Hainan Island in the northwestern South China Sea were analyzed. The diurnal and semidiurnal (using K1 and M2 as proxies, respectively) tidal currents and associated isopycnal undulations were derived with harmonic analysis. Results show that the velocities of the diurnal and semidiurnal tides derived from the 25-h observations are comparable to those from the mooring series. The semi-major axes of the tidal ellipses were O(4–7 cm/s) for barotropic tides and O(2–4 cm/s) for baroclinic tides. The directions were in NE-SW at deeper stations to N-S at the shallowest station for the diurnal tide and from NW-SE to NE-SW for the semidiurnal tide. Both the diurnal and semidiurnal isopycnal fluctuations reached O(5 m), O(8 m), and O(10 m) at the cross-shelf stations (H03, H04, and H05) from 35 m, 45 m, to 55 m, respectively, showing insignificant vertical variation, and the barotropic signals were predominate. The baroclinic diurnal tide showed first-mode structures at H03-05, as does the semidiurnal tide at H03. The semidiurnal tide at H04 and H05 exhibited higher-mode structures. The time series of both the alongshore and cross-shore components reveal the vertically propagation features of the baroclinic tidal phase and energy. The calculated horizontal energy fluxes of the diurnal and semidiurnal internal tides decreased from O(0.1 W/m) at H05 to O(0.01 W/m) at H03, implying a propagation and dissipation of energy from offshore to inshore. [ABSTRACT FROM AUTHOR]

Near-inertial motion is an important dynamic process in the upper ocean and plays a significant role in mass, heat, and energy transport across the thermocline. In this study, the dissipation of wind-induced near-inertial energy in the thermocline is investigated by using observation data collected in July and August 2005 during the tropical storm Washi by a moored system at (19°35′N, 112°E) in the continental shelf region off Hainan Island. In the observation period, the near-inertial part dominated the observed ocean kinetic energy and about 80% of the near-inertial energy dissipated in the upper layer. Extremely strong turbulent mixing induced by near-inertial wave was observed in the thermocline, where the turbulent energy dissipation rate increased by two orders of magnitude above the background level. It is found that the energy loss of near-inertial waves in the thermocline is mainly in the large-scales. This is different from the previous hypothesis based on 'Kolmogorov cascade' turbulence theory that the kinetic energy is dissipated mainly by small-scale motions. [ABSTRACT FROM AUTHOR]

The objective of this study was to evaluate the efficacy and safety of super pulse CO2 laser-assisted punctoplasty with canalicular curettage in primary canaliculitis. In this retrospective serial case study, the clinical data of 26 patients who underwent super pulse CO2 laser-assisted punctoplasty for the treatment of canaliculitis were collected from January 2020 to May 2022. The clinical presentation, intraoperative and microbiologic findings, surgical pain severity, postoperative outcome, and complications were studied. Of the 26 patients, most were females (female:male 20:6), with a mean age of 60.1 ± 16.1 years (range, 19–93). Mucopurulent discharge (96.2%), eyelid redness and swelling (53.8%), and epiphora (38.5%) were the most common presentations. During the surgery, concretions were present in 73.1% (19/26) of the patients. The surgical pain severity scores ranged from 1 to 5, according to the visual analog scale, with a mean score of 3.2 ± 0.8. This procedure resulted in complete resolution in 22 (84.6%) patients and significant improvement in 2 (7.7%) patients, and 2 (7.7%) patients required additional lacrimal surgery with a mean follow-up time of 10.9 ± 3.7 months. The surgical procedure of super pulse CO2 laser-assisted punctoplasty followed by curettage appears to be a safe, effective, minimally invasive, and well-tolerated treatment for primary canaliculitis. [ABSTRACT FROM AUTHOR]

Based on high-resolution, Array for Real-time Geostrophic Oceanography (Argo) profiles and Sea Level Anomaly (SLA) data, this study statistically analyzes and compares turbulent diapycnal mixing profiles inside and outside mesoscale eddies in the Gulf Stream region. The result indicates that average diapycnal diffusivity at 300-540 m depths in anticyclonic eddies reaches 4.0×10 m s. This is significantly higher than the 1.6×10 m s outside eddies and 0.8×10 m s in cyclonic eddies. Probabilities of diapycnal diffusivity greater than 10 m s within anticyclonic and cyclonic eddies and outside eddies are 29%, 5% and 12%, respectively. However, magnitudes of average diapycnal diffusivity at 540-900 m depths in these three cases are of the same order, 10 m s. Twenty-four of a total 38 anticyclonic eddies had enhanced mixing in the ocean interior, and 22 were observed during or shortly after strong winds. The coincidence between enhanced mixing and strong wind stress indicates that more wind-induced, near-inertial wave energy propagates downward in anticyclonic eddies. The deeper part of 12 profiles (below 540 m) in anticyclonic eddies had vertical overturns with Thorpe scale exceeding 5 m, among which three profiles had overturns reaching 20 m. Enhanced mixing may have occurred in deep layers of some profiles, although it was not evident in average conditions. [ABSTRACT FROM AUTHOR]

In order to study the evolution laws of the temperature field, flow field, and macroscopic morphology of the molten pool during laser cladding process, this paper focuses on the changes in the morphology and flow field distribution of the molten pool temperature field caused by corresponding parameter changes during laser cladding process. First, a multi-physics field coupling model for laser cladding was established by combining light powder interaction, phase transition, heat transfer, and fluid dynamics, and the temperature and flow fields of the molten pool were analyzed. Then, the influence of process parameters such as laser power, scanning speed, and powder feeding rate on the temperature and flow field of the molten pool was studied. Finally, the influence of Marangoni convection induced by surface tension temperature coefficient on the macroscopic morphology, internal temperature field, and flow field distribution of the molten pool was investigated. [ABSTRACT FROM AUTHOR]

Laser cladding has significant advantages in the forming process of Invar alloy. Nevertheless, the coefficient of thermal expansion, microstructure and mechanical properties still need to be further investigated. In this paper, the Invar alloy powder was used to prepare cladding samples, and the performance and microstructure of the cladding layer were investigated. The mechanical and thermal expansion performances of the cladding layer were analysed using a universal material testing machine and a thermal expansion instrument, and the microscopic structure and micro zone composition of the tensile fracture of the cladding layer were investigated using an SEM scanning electron microscope and an EDS energy spectrum analyser. The results show that the mechanical properties of the Invar alloy transverse cladding layer are better than those of longitudinal cladding layer; the thermal expansion performance of the cladding layer is good, and it keeps the same with the base material in the range of 25–200 °C; the fracture analysis reveals more dimples in the transverse cladding layer fracture with better plastic tenacity, and intergranular fracture and quasi-cleavage fracture in the longitudinal cladding layer fracture with slightly poor plastic tenacity. [ABSTRACT FROM AUTHOR]

Copper-based lead-free perovskite derivatives have recently drawn great attention for their excellent optoelectronic properties and potential applications in light-emitting diodes (LEDs) and photodetectors. Herein, facile synthesis methods of cooling crystallization and wet ball milling (WBM) are adopted to synthesize K2CuCl3, resulting in single crystals (SCs) and powder samples, respectively. The as-fabricated K2CuCl3 samples exhibit blue–violet emission, with the highest photoluminescence quantum yield (PL QY) of 70% (under 280 nm excitation), and the photoluminescence (PL) is attributed to the self-trap excitons (STEs) emission. We also test the scintillation properties of K2CuCl3 for X-ray detection and imaging applications. A down-conversion LED is finally made by using K2CuCl3 as phosphor. As-synthesized K2CuCl3 can be used for either photoluminescence under UV light or X-ray imaging under X-ray radiation. -- Present in ms [ABSTRACT FROM AUTHOR]

The rapid sediment deposition induced by storm and reclamation has both positive and negative effects on the mangrove. In this study, the rapid sediment deposition is found to cause the mangrove mortality in the Tieshan Harbor of Guangxi Beibu Gulf (GBG). Based on modeling and observational results, the reduced tidal current velocity caused by the wharf construction is not the main reason for the mangrove mortality. The sediment generated from the reclamation overflow, accompanied by the effect of entrance avenue, jointly lead to the rapid sediment deposition in the mangrove region and then contribute to the mangrove mortality. Gale process and drainage outlet also make a subsidiary contribution to the rapid sediment deposition. When the entrance avenue was excavated and the reclamation overflow port was moved as well as the drainage outlets were closed, the biomass and perched density of intertidal animals in the mangrove region obviously increased from January to July 2021, corresponding to the decrease of sediment deposition rate during the period. [ABSTRACT FROM AUTHOR]

Seizure-induced neurogenesis has a widely recognized pro-epileptogenic function. Given the critical role of Notch signaling during the maintenance and neurogenesis of neural stem cells, we hypothesized that Notch may affect epileptogenesis and its progression through its role in neurogenesis in the adolescent rat brain. We used the lithium-pilocarpine-induced epilepsy model in adolescent Sprague–Dawley rats in order to evaluate hippocampal neurogenesis and epileptogenesis following the onset of status epilepticus (SE). We used western blotting analyses and qPCR to measure levels of Notch signaling at different phases after seizures and immunofluorescence to detect the proliferation and differentiation of neural stem cells after seizure. Following the administration of DAPT, a Notch γ-secretase inhibitor, into the lateral ventricles, we observed a suppression of abnormal neurogenesis in the acute phase and a reduction of gliosis in the chronic phase after SE. Accordingly, the frequency and duration of spontaneous seizures in chronic phase were decreased. Our results clarify the basic concept regarding the involvement of Notch signaling in the regulation of hippocampal neurogenesis and epileptogenesis, thereby potentially offering a novel and alternative treatment for epilepsy. [ABSTRACT FROM AUTHOR]

To investigate the association of the sarcopenia index (SI, serum creatinine value/cystatin C value × 100) with 3-year mortality and readmission among older inpatients, we reanalyzed a prospective study in the geriatric ward of a teaching hospital in western China. Older inpatients aged ≥ 60 years with normal kidney function were included. Survival status and readmission information were assessed annually during the 3-year follow-up. We applied Cox regression models to calculate the hazard ratio (HR) and 95% confidence intervals (CIs) of sarcopenia for predicting mortality and readmission. We included 248 participants (mean age: 81.2 ± 6.6 years). During the follow-up, 57 participants (23.9%) died, whereas 179 participants (75.2%) were readmitted at least one time. The SI was positively correlated with body mass index (BMI) (r = 0.214, p = 0.001), calf circumference (CC) (r = 0.253, p < 0.001), handgrip strength (r = 0.244, p < 0.001), and gait speed (r = 0.221, p < 0.001). A higher SI was independently associated with a lower risk of 3-year all-cause mortality after adjusting for potential confounders (HR per 1-SD = 0.80, 95% CI: 0.63–0.97). The SI was not significantly associated with readmission (HR per 1-SD = 0.97, 95% CI: 0.77–1.25). In conclusion, the SI is associated with 3-year all-cause mortality but not readmission in a study population of hospitalized older patients. [ABSTRACT FROM AUTHOR]

The continuous energy input can lead to heat accumulation in the multi-pass lap laser cladding, which results in a progressive increase in the dilution rate and deteriorates the quality of laser cladding. Precisely controlling the stability of the dilution in the multi-pass laser cladding is still challenging. In this study, we proposed a deep-learning driven method for precisely controlling the dilution rate in the multi-pass laser cladding. Initially, the relationship between the dilution rate and power energy is retracted via the experiment-based finite element simulation. Subsequently, the convolution neural network deep learning is applied to optimize and improve the accuracy of the dilution rates in the cladding layer. The experiment verifies that the high stability of dilution rate in each pass, i.e., average errors of less than 10.88%, is achieved via in-situ adjusting of the power energy using the prediction obtained from the proposed method. We also attempted to provide insights into the dilution mechanism in Invar alloy multi-pass laser cladding as well as the potential applications of this method for other materials and other additive manufacturing. [ABSTRACT FROM AUTHOR]

The fungal microbiota is an important component of the human gut microbiome and may be linked to gastrointestinal disease. In this study, the fungal microbiota of biopsy samples from adenomas and adjacent tissues was characterized by deep sequencing. Ascomycota, Glomeromycota and Basidiomycota were identified as the dominant phyla in both adenomas and adjacent tissues from all subjects. Among the 60 genera identified, the opportunist pathogens Phoma and Candida represented an average of 45% of the fungal microbiota. When analyzed at the operational taxonomic unit (OTU) level, however, a decreased diversity in adenomas was observed, and three OTUs differed significantly from the adjacent tissues. Principal Component Analysis (PCA) revealed that the core OTUs formed separate clusters for advanced and non-advanced adenomas for which the abundance of four OTUs differed significantly. Moreover, the size of adenomas and the disease stage were closely related to changes in the fungal microbiota in subjects with adenomas. This study characterized the fungal microbiota profile of subjects with adenomas and identified potential diagnostic biomarkers closely related to different stages of adenomas. [ABSTRACT FROM AUTHOR]

The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na+/K+-ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them as a cohort and analyzed their clinical data. Eleven patients were identified with de novo pathogenic ATP1A3 heterozygous variants. One (c.2542 + 1G > T, splicing) has not been reported. Eight patients with alternating hemiplegia of childhood (AHC), one with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), and two with relapsing encephalopathy with cerebellar ataxia (RECA) were included. The initial manifestations of AHC included hemiplegia, oculomotor abnormalities, and seizures, and the most common trigger was an upper respiratory tract infection without fever. All patients had paroxysmal hemiplegic attacks during their disease course. The brain MRI showed no abnormalities. Six out of eight AHC cases reached a stable disease state after treatment. The initial symptom of the patient with CAPOS was ataxia followed by developmental regression, seizures, deafness, visual impairment, and dysarthria, and the brain MRI indicated mild cerebellar atrophy. No fluctuation was noted after using Acetazolamide. The initial manifestations of the two RECA cases were dystonia and encephalopathy, respectively. One manifested a rapid-onset course of dystonia triggered by a fever followed by dysarthria and action tremors, and independent walking was impossible. The brain MRI image was normal. The other one presented with disturbance of consciousness, seizures, sleep disturbance, tremor, and dyskinesias. The EEG revealed a slow background (δ activity), and the brain MRI result was normal. No response to Flunarizine was noted for them, and it took 61 and 60 months for them to reach a stable disease state, respectively. Conclusion: Pathogenic ATP1A3 variants play an essential role in the pathogenesis of Sodium–Potassium pump disorders, and AHC is the most common phenotype. The treatment strategies and prognosis depend on the phenotype categories caused by different variation sites and types. The correlation between the genotype and phenotype requires further exploration. What is Known: • Pathogenic heterozygous ATP1A3 variants cause a spectrum of neurological phenotypes, and ATP1A3-disorders are viewed as a phenotypic continuum presenting with atypical and overlapping features. • The genotype-phenotype correlation of ATP1A3-disorders remains unclear. What is New: • In this study, the genotypes and phenotypes of ATP1A3-related disorders from Southwest of China were described. The splice-site variation c.2542+1G>T was detected for the first time in ATP1A3-related disorders. • The prognosis of twins with AHC p. Gly947Arg was more serious than AHC cases with other variants, which was inconsistent with previous reports. The phenomenon indicated the diversity of the correlation between the genotype and phenotype. [ABSTRACT FROM AUTHOR]

The velocity structure of the residual current across an entire section of the Qiongzhou Strait (QS) in summer is presented for the first time. Shipboard Acoustic Doppler Current Profile measurements, from the mid-region of the QS (110.18°E), were collected on 1-4 August 2010. The diurnal tidal currents had their maximum amplitudes between 4.24 and 20.24 m. Their amplitude along the major axis ranged from approximately 0.55 m/s in the middle part of the strait (20.15°N) to 0.84 m/s in the north part of the strait (20.20°N). Both anticlockwise and clockwise tidal current rotations exist in the QS. During the observation period (neap tide), a significant westward residual current occupied almost the entire study section. Two velocity cores of westward current were observed at the northern part and near the deepest trough, although an eastward current appeared in the middle part of the transect. The deepest core was located near 62 m at 20.13°N, with a maximum velocity of −0.34 m/s. The shallower core was located at approximately 16 m at 20.20°N, with a maximum velocity of −0.33 m/s. The estimated total volume of water transported through the QS was −0.16 Sv. This value is an important boundary condition, applicable to numerical models studying coastal ocean circulation in the northwestern South China Sea. [ABSTRACT FROM AUTHOR]

Purpose: This study investigated the influence of plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms and other contributing clinical factors on peripherally inserted central catheter–related venous thrombosis (PICC-RVT) in Chinese patients with lung cancer. Methods: We conducted a prospective study of 237 participants. Blood samples were collected to detect the PAI-1 4G/5G genotype. Venous thromboembolism risk was calculated by the Caprini risk assessment model. Color Doppler ultrasonography was performed every 7 days for 3 weeks to confirm PICC-RVT. Results: The rate of PICC-RVT was 13.50% (32/237). The 5G/5G, 4G/5G, and 4G/4G genotypes were found in 12.50% vs 17.56%, 59.38% vs 49.27%, and 28.12% vs 34.17% in the thrombus group and the non-thrombus group of the participants. No difference was observed in the distribution frequency of the three genotypes between the thrombus and non-thrombus groups. A higher fibrinogen level (OR 1.194, 95% CI 1.004–1.420, P = 0.045) and a higher Caprini score (OR 1.698, 95% CI 1.103–2.614, P = 0.016) were statistically significant risk factors for PICC-RVT. Compared with patients who underwent a pemetrexed/cisplatin regimen, those who were administered paclitaxel/cisplatin (OR 18.332, 95% CI 2.890–116.278, P = 0.002) or gemcitabine/cisplatin (OR 6.617, 95% CI 1.210–36.180, P = 0.029) were at increased risk of PICC-RVT. Conclusion: Our finding suggested that there is no statistically significant influence of the PAI-1 4G/5G gene variant on PICC-RVT in Chinese patients with lung cancer. However, patients with higher Caprini scores and higher fibrinogen levels are at increased risk for PICC-RVT, as are patients receiving chemotherapy. Clinical staff should carefully perform a risk assessment for patients with PICC. Those with the above risk factors should pay close attention and take timely and effective preventive measures. [ABSTRACT FROM AUTHOR]

Wave breaking is an important process that controls turbulence properties and fluxes of heat and mass in the upper oceanic layer. A model is described for energy dissipation per unit area at the ocean surface attributed to wind-generated breaking waves, in terms of ratio of energy dissipation to energy input, wind-generated wave spectrum, and wave growth rate. Also advanced is a vertical distribution model of turbulent kinetic energy, based on an exponential distribution method. The result shows that energy dissipation rate depends heavily on wind speed and sea state. Our results agree well with predictions of previous works. [ABSTRACT FROM AUTHOR]

Purpose: Inflammation has been reported as a facilitator in cervical oncogenesis, but the correlation between inflammation and cytological abnormality remains uncertain. The aim of this study was to investigate the correlation between inflammation and cytological abnormality. Methods: ThinPrep cytological test (TCT) was used to detect cervical cytological abnormalities and inflammation degrees of 46,255 women in this prospective cross-sectional study. Histopathological examination was used to define the cervical intraepithelial neoplasia (CIN) in patients with cervical cytological abnormalities. Results: The study revealed that 8.87% (4102/46,255) of TCT results had cytological abnormalities. The 4102 included cases were classified as the case group, including atypical squamous cells (ASC), low-grade squamous intraepithelial lesions (LSIL) and high-grade squamous intraepithelial lesions (HSIL). Women with negative intraepithelial lesion or malignancy (NILM) were classified as the control group. About 88.83% (3644/4102) of women with cytological abnormalities showed inflammations. The rate of severe inflammation was significantly higher in the case group than the control group (23.86% vs. 2.0%, P = 0.000). Our results also showed that patients with severe inflammation had a significantly increasing incidence of cytological abnormality by 12.598 times and elevated the risk of HSIL by 756.47 times, compared to the inflammation negative group. Conclusion: Severe inflammation was positively related to HSIL. Patients with severe cervical inflammation should be given more follow-ups and regular examinations and treated more carefully than those with mild or no inflammation. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the diagnostic value of the sarcopenia index (serum creatinine [mg/dl]/cystatin C [mg/dl] × 100) for estimating low muscle mass and sarcopenia in community-dwelling older adults. We included 371 older adults (≥60 years) with normal kidney function. Four common diagnostic criteria (the European Working Group on Sarcopenia in Older People (EWGSOP), Asia Working Group for Sarcopenia (AWGS), International Working Group on Sarcopenia (IWGS), and Foundation for the National Institutes of Health (FNIH) criteria) were separately applied as the “gold standard”. The receiver operating characteristic (ROC) curves and the area under the ROC curves (AUC) were applied to evaluate the overall diagnostic accuracy. For identifying low muscle mass, the AUC ranged from 0.505 (95% confidence interval [CI] 0.453-0.557) to 0.558 (95% CI 0.506-0.609). For identifying sarcopenia, the AUC ranged from 0.555 (95% CI 0.503-0.606) to 0.618 (95% CI 0.566-0.668). Subgroup analyses according to gender showed similar results. In conclusion, the sarcopenia index based on serum creatinine and cystatin C may not serve as biomarkers of either low muscle mass or sarcopenia in urban community-dwelling older people with normal kidney function. [ABSTRACT FROM AUTHOR]

In this paper, we present measurements of velocity, temperature, salinity, and turbulence collected in Prydz Bay, Antarctica, during February, 2005. The dissipation rates of turbulent kinetic energy ( ɛ) and diapycnal diffusivities ( K) were estimated along a section in front of the Amery Ice Shelf. The dissipation rates and diapycnal diffusivities were spatially non-uniform, with higher values found in the western half of the section where ɛ reached 10 W/kg and K reached 10 m/s, about two and three orders of magnitude higher than those in the open ocean, respectively. In the western half of the section both the dissipation rates and diffusivities showed a high-low-high vertical structure. This vertical structure may have been determined by internal waves in the upper layer, where the ice shelf draft acts as a possible energy source, and by bottom-generated internal waves in the lower layer, where both tides and geostrophic currents are possible energy sources. The intense diapycnal mixing revealed in our observations could contribute to the production of Antarctic Bottom Water in Prydz Bay. [ABSTRACT FROM AUTHOR]