A "twelve-section ultrasonic screening and diagnosis method" and management system for screening and treating neonatal congenital heart disease at the grassroots level in Tang County, Hebei Province, China.

BACKGROUND: To explore a method for screening and diagnosing neonatal congenital heart disease (CHD) applicable to grassroots level, evaluate the prevalence of CHD, and establish a hierarchical management system for CHD screening and treatment at the grassroots level. METHODS: A total of 24,253 newborns born in Tang County between January 2016 and December 2020 were consecutively enrolled and screened by trained primary physicians via the "twelve-section ultrasonic screening and diagnosis method" (referred to as the "twelve-section method"). Specialized staff from the CHD Screening and Diagnosis Center of Hebei Children's Hospital regularly visited the local area for definite diagnosis of CHD in newborns who screened positive. Newborns with CHD were managed according to the hierarchical management system. RESULTS: The centre confirmed that, except for 2 newborns with patent ductus arteriosus missed in the diagnosis of ventricular septal defect combined with severe pulmonary hypertension, newborns with other isolated or concomitant simple CHDs were identified at the grassroots level. The sensitivity, specificity and diagnostic coincidence rate of the twelve-section method for screening complex CHD were 92%, 99.6% and 84%, respectively. A total of 301 children with CHD were identified. The overall CHD prevalence was 12.4‰. According to the hierarchical management system, 113 patients with simple CHD recovered spontaneously during local follow-up, 48 patients continued local follow-up, 106 patients were referred to the centre for surgery (including 17 patients with severe CHD and 89 patients with progressive CHD), 1 patient died without surgery, and 8 patients were lost to follow-up. Eighteen patients with complex CHD were directly referred to the centre for surgery, 3 patients died without surgery, and 4 patients were lost to follow-up. Most patients who received early intervention achieved satisfactory results. The mortality rate of CHD was approximately 28.86 per 100,000 children. CONCLUSIONS: The "twelve-section method" is suitable for screening neonatal CHD at the grassroots level. The establishment of a hierarchical management system for CHD screening and treatment is conducive to the scientific management of CHD, which has important clinical and social significance for early detection, early intervention, reduction in mortality and improvement of the prognosis of complex and severe CHDs.

Regional disparities, age-related changes and sex-related differences in knee osteoarthritis.

BACKGROUND: The objective of the study is to analyse the regions, age and sex differences in the incidence of knee osteoarthritis (KOA). METHODS: Data were extracted from the global burden of diseases (GBD) 2019 study, including incidence, years lived with disability (YLD), disability-adjusted life-years (DALYs) and risk factors. Estimated annual percentage changes (EAPCs) were calculated to quantify the temporal trends in age standardized rate (ASR) of KOA. Paired t-test, paired Wilcoxon signed-rank test and spearman correlation were performed to analyze the association of sex disparity in KOA and socio-demographic index (SDI). RESULTS: There were significant regional differences in the incidence of knee osteoarthritis. In 2019, South Korea had the highest incidence of knee osteoarthritis (474.85,95%UI:413.34-539.64) and Thailand had the highest increase in incidence of knee osteoarthritis (EAPC = 0.56, 95%CI = 0.54-0.58). Notably, higher incidence, YLD and DALYs of knee osteoarthritis were associated with areas with a high socio-demographic index (r = 0.336, p < 0.001; r = 0.324, p < 0.001; r = 0.324, p < 0.001). In terms of age differences, the greatest increase in the incidence of knee osteoarthritis was between the 35-39 and 40-44 age groups. (EAPC = 0.52, 95%CI = 0.40-0.63; 0.47, 95%CI = 0.36-0.58). In addition, there were significant sex differences in the disease burden of knee osteoarthritis (P < 0.001). CONCLUSIONS: The incidence of knee osteoarthritis is significantly different with regions, age and sex.

Cationic Oxidative Leaching Engineering Modulated In Situ Self-Reconstruction of Nickel Sulfide for Superior Water Oxidation.

Tuning the electroactive surface species of electrocatalysts remains a significant challenge for achieving highly efficient oxygen evolution reactions. Herein, we propose an innovative in situ leaching strategy, modulated by cationic oxidation, to achieve active self-reconstruction of these catalysts. Vanadium is introduced as a cation into Ni3S2 and oxidized under low oxidative potential, leading to subsequent leaching into the electrolyte and triggering self-reconstruction. The structural evolution from V-Ni3S2 to Ni(OH)2 and subsequently to NiOOH is identified by operando Raman as a three-step transition. In contrast, V-free Ni3S2 is unable to bypass the thermodynamically predicted nickel oxysulfide products to transform into active NiOOH. As a result, the self-restructured V-Ni3S2 only needs an ultralow overpotential of 155 mV at 10 mA cm-2, outperforming V-free Ni3S2 and many other advanced catalysts. This work provides new guidelines for manipulating in situ leaching to modulate the self-reconstruction of catalysts.

Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

AIM: To investigate the occurrence of mosaicism in epilepsy probands and their parents using amplicon-based deep sequencing (ADS). METHODS: Patients were recruited from the outpatient of Peking University First Hospital. Two hundred and sixty-four probands with pathogenic variants tested by next-generation sequencing (NGS) were enrolled. RESULTS: Mosaic variants were detected in seventeen disease-associated genes from 20 probands, 5 paternal, and 6 maternal parents. The frequency of mosaicism was 11.74% (31/264). Mosaicism in 11 genes was identified from 20 probands with the mutant allelic fractions (MAFs) of 12.95-38.00% in autosomal dominant genes. Five paternal mosaicisms were identified in genes with a MAF of 6.30-20.99%, and six maternal mosaic individuals with a MAF of 2.07-21.90%. Only four mosaic parents had milder seizure history. The affected sibling had the same phenotype consistent with that of the proband, who inherited the variant of SLC1A2 or STXBP1 from their unaffected mosaic mothers, respectively. INTERPRETATION: Mosaic phenomenon is not rare in families with epilepsy. Phenotypes of mosaic parents were milder or normal. Mosaicism detection is helpful to identify the mutation origin and it provides a theoretical basis for prenatal diagnosis of family reproduction. ADS is a reliable way of mosaicism detection for clinical application.

Study on the views and methods of ultrasonic screening and diagnosis for abnormal aortic arch in infants.

BACKGROUND: The purpose of this study was to explore echocardiographic views and methods of aortic arch anomalies in infants, so as to improve the screening sensitivity and diagnostic accuracy. METHODS: 140 children with abnormal aortic arch diagnosed by ultrasound in Children's Hospital of Hebei Province from January 2014 to December 2019 were selected for retrospective analysis. All were confirmed by surgery or/and computerized tomography angiography. Series of views for aortic arch (the three-vessel and tracheal view, aortic arch short axis view, left aortic arch long axis view, aortic arch long axis continuous scan views) were performed in all cases on the basis of the routine views of echocardiography. The screening sensitivity and diagnostic coincidence rate of different echocardiographic views for aortic arch anomalies were analyzed. RESULTS: Among the 140 infants, right aortic arch were 21 cases (6/21 were accompanied by mirror branch and 15/21 were with aberrant left subclavian artery). Left aortic arch with aberrant right subclavian artery were 2 cases, and double aortic arch with both arches open were 20 cases. Double aortic arch with left arch atresia were 2 cases, and atresia of the proximal aorta with aortic arch dysplasia was 1 case. Coarctation of the aorta were 67 cases, and interruption of aortic arch were 27 cases. All the patients were correctly diagnosed except that 2 infants with interruption of aortic arch were incorrectly diagnosed as coarctation of the aorta, and 1 infant with coarctation of the aorta was misdiagnosed as interruption of aortic arch by echocardiography. The screening sensitivities of four views and four-view combination for abnormal aortic arch were 99.3, 73.6, 87.1, 99.3, and 100%; the diagnostic coincidence rates were 85.7, 27.1,66.4, 95.0%, and 97.9% respectively. On the basis of traditional left aortic long axis view, other three views had their own advantages. The screening sensitivity and diagnostic coincidence rate of four-view combination were significantly improved. CONCLUSIONS: The three-vessel trachea view is simple and feasible, which is suitable for screening abnormal aortic arch. The combination of four views conduces to improving screening sensitivity and diagnostic accuracy of aortic arch abnormalities.

Assessing right ventricular systolic function using ultrasonic speckle-tracking imaging in repaired Tetralogy of Fallot with different pulmonary artery branch angles.

OBJECTIVE: This study assessed whether ultrasonic speckle-tracking imaging (STI) could help evaluate right ventricular systolic function in repaired Tetralogy of Fallot (TOF) with different pulmonary artery branch angles. METHODS: We retrospectively evaluated 64 patients who underwent surgery for TOF and 60 normal children. The angle between the left pulmonary artery and main pulmonary artery was measured using echocardiography and computed tomography angiography (CTA). Furthermore, STI was used to record the global longitudinal strain of the four-chamber view (GLS4), the global longitudinal strain of the two-chamber view (GLS2), and the global longitudinal strain of the right ventricle (RVGLS). RESULTS: The GLS4, GLS2, and RVGLS values in the TOF groups with different pulmonary artery branch angles were significantly lower than those in the control group. Furthermore, the GLS2 and RVGLS values were significantly lower for angles of 90-100° and <90° (vs >100°). Multivariate linear regression analyses revealed that pulmonary regurgitation and the angle between the left and main pulmonary arteries were two important factors affecting RVGLS. The Bland-Altman consistency test revealed good agreement regarding the pulmonary artery branch angles measured using echocardiography and CTA. CONCLUSION: In patients with TOF, the RVGLS was lower for acute left pulmonary artery angulation than for round and blunt left pulmonary artery angulation. The angle of the pulmonary artery branches was an important factor affecting RVGLS. Echocardiography can be used to measure the angle of the pulmonary artery branches, which provides valuable information for surgical correction of pulmonary artery morphology.

A Fast Room-Temperature Self-Healing Glassy Polyurethane.

We designed and synthesized a colorless transparent glassy polyurethane assembled using low-molecular-weight oligomers carrying a large number of loosely packed weak hydrogen bonds (H-bonds), which has a glass transition temperature (Tg ) up to 36.8 °C and behaves unprecedentedly robust stiffness with a tensile Young's modulus of 1.56±0.03 GPa. Fast room-temperature self-healing was observed in this polymer network: the broken glassy polyurethane (GPU) specimen can recover to a tensile strength up 7.74±0.76 MPa after healing for as little as 10 min, which is prominent compared to reported room-temperature self-healing polymers. The high density of loose-packed hydrogen bonds can reversibly dissociate/associate below Tg of GPU (that is secondary relaxation), which enables the reconfiguration of the damaged network in the fractured interfaces, despite the extremely slow diffusion dynamics of molecular chains under room temperature. This GPU shows potential application as an optical lens.

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.

AIM: To characterize the different phenotypes of GABRB2-related epilepsy and to establish a genotype-phenotype correlation. METHOD: We used next-generation sequencing to identify GABRB2 variants in 15 patients. RESULTS: Eleven GABRB2 variants were novel and 12 were de novo. The age at the onset of seizures ranged from 1 day to 26 months. Nine patients had multiple seizure types, including focal seizures, generalized tonic-clonic seizures, myoclonic seizures, epileptic spasms, and atonic seizures. Seizures were fever-sensitive in 13 out of the 15 patients. Eleven patients displayed developmental delay, while 11 had abnormal video electroencephalography. Abnormalities in the brain images included dysplasia of the frontal and temporal cortex, dysplasia of the corpus callosum, and delayed myelination in four patients. One patient was diagnosed with febrile seizures, three with febrile seizures plus, three with Dravet syndrome, three with West syndrome, one with Ohtahara syndrome, three with developmental delays and epilepsy, and one with non-specific early-onset epileptic encephalopathy. INTERPRETATION: The most common phenotypes of patients with GABRB2 variants include early onset of seizure and fever sensitivity. Febrile seizures and febrile seizures plus are new phenotypes of GABRB2 variants. The phenotypic spectrum of GABRB2 variants ranges from mild febrile seizures to severe epileptic encephalopathy.

CHD2-related epilepsy: novel mutations and new phenotypes.

The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. Sixteen mutations were identified, among which 15 have not yet been reported. Thirteen mutations were de novo. Age at seizure onset ranged from 3 months to 10 years 5 months. Seizures observed were generalized tonic-clonic, myoclonic, atonic, atypical absence, focal, and myoclonic-atonic. Epileptic spasms occurred in two patients. Developmental disability was present in 14 patients. Autism features were observed in seven patients. Video electroencephalogram was abnormal in 15 patients. Five patients were diagnosed with non-specific epileptic encephalopathy, two with epilepsy with myoclonic-atonic seizures, two with Lennox-Gastaut syndrome, two with febrile seizures plus, and one with West syndrome. Seizures were controlled in nine patients. Q1392TfsX17 may be a hot-spot mutation of CHD2. West syndrome was observed as a new phenotype of CHD2 mutation. The severity of the phenotypes of CHD2 mutations ranged from mild febrile seizures to severe epileptic encephalopathy. WHAT THIS PAPER ADDS: Q1392TfsX17 maybe the hot-spot mutation of CHD2. West syndrome could be a new phenotype of CHD2 mutation.

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was to identify the origin of ATP1A3 pathogenic variants in a Chinese cohort. In 105 probands including 101 sporadic and 4 familial cases, 98 patients with ATP1A3 pathogenic variants were identified, and 96.8% were confirmed as de novo. Micro-droplet digital polymerase chain reaction was applied for detecting ATP1A3 mosaicism in 80 available families. In blood samples, four asymptomatic parents, including two paternal and two maternal, and one proband with a milder phenotype were identified as mosaicism. Six (7.5%) parental mosaicisms were identified in multiple tissues, including four previously identified in blood and two additional cases identified from paternal sperms. Mosaicism was identified in multiple tissues with varied mutant allele fractions (MAFs, 0.03%-33.03%). The results suggested that MAF of mosaicism may be related to phenotype severity. This is the first systematic report of ATP1A3 mosaicism in AHC and showed mosaicism as an unrecognized source of previously considered "de novo" AHC. Identifying ATP1A3 mosaicism provides more evidence for estimating recurrence risk and has implications in genetic counseling of AHC.

Double aortic arch with atretic left arch distal to the origin of left subclavian artery accompanied by dyspnea: A case report and literature review.

Double aortic arch with atretic left arch distal to the origin of left subclavian artery is a rare type of vascular ring, and it can be easily confused with the right aortic arch with mirror branching. We provided a rare case of a 10-month-old infant with dyspnea. Echocardiography showed a suspicious double aortic arch with atretic left arch distal to the origin of left subclavian artery, which was confirmed intra-operatively. We summarize ultrasonic image characteristics of the disease and combine it with computed tomography angiography, bronchoscopy, and clinical symptoms in order to improve the detection rate and treatment strategy.

Ultra-Highly Stiff and Tough Shape Memory Polyurea with Unprecedented Energy Density by Precise Slight Cross-Linking.

Shape memory polymers (SMPs) have attracted significant attention and hold vast potential for diverse applications. Nevertheless, conventional SMPs suffer from notable shortcomings in terms of mechanical properties, environmental stability, and energy density, significantly constraining their practical utility. Here, inspired by the structure of muscle fibers, an innovative approach that involves the precise incorporation of subtle, permanent cross-linking within a hierarchical hydrogen bonding supramolecular network is reported. This novel strategy has culminated in the development of covalent and supramolecular shape memory polyurea, which exhibits exceptional mechanical properties, including high stiffness (1347 MPa), strength (82.4 MPa), and toughness (312.7 MJ m-3), ensuring its suitability for a wide range of applications. Furthermore, it boasts remarkable recyclability and repairability, along with excellent resistance to moisture, heat, and solvents. Moreover, the polymer demonstrates outstanding shape memory effects characterized by a high energy density (24.5 MJ m-3), facilitated by the formation of strain-induced oriented nanostructures that can store substantial amounts of entropic energy. Simultaneously, it maintains a remarkable 96% shape fixity and 99% shape recovery. This delicate interplay of covalent and supramolecular bonds opens up a promising pathway to the creation of high-performance SMPs, expanding their applicability across various domains.

A novel method for precise implantation of tracheal Y-shaped stent.

The tracheal Y-shaped stent is mainly used for the treatment of critical patients with airway stenosis or esophagotracheal fistula near carina. A novel method for precise implantation of Y-shaped tracheal stents was developed using double-lumen endotracheal intubation and flexible bronchoscopy. This approach aims to address the limitations associated with X-ray or rigid bronchoscopy guidance, such as operational difficulties and the risk of inaccurate stent placement leading to implantation failure or suffocation. With this new technique, 13 tracheal Y-shaped stents were successfully implanted. This method shows promise in reducing the complexity of stent implantation and facilitating timely treatment for patients in need. Additionally, it has the potential to update current operating standards and guidelines for this procedure.

Fatigue-Free and Skin-like Supramolecular Ion-Conductive Elastomeric Interphases for Stable Lithium Metal Batteries.

The heterogeneity and continuous cracking of the static solid electrolyte interphase (SEI) are one of the most critical barriers that largely limit the cycle life of lithium (Li) metal batteries. Herein, we report a fatigue-free dynamic supramolecular ion-conductive elastomeric interphase (DSIEI) for a highly efficient and dendrite-free lithium metal anode. The soft phase poly(propylene glycol) backbone with loosely Li+-O coordinating interaction was responsible for fast ion transport. Simultaneously, the supramolecular quadruple hydrogen bonds (H-bonds) in the hard phases endow the elastomeric interphase with mechanical enhancement, while gradient H-bonds can dissipate strain energy via the sequential bonding cleavage. Such a design affords superior mechanical robustness, high ionic conductivity, gradient energy dissipation, and high Li+ transference number. Besides, anion enrichment in DSIEI assists in situ construction of a lithium fluoride-rich inner layer upon cycling. The resultant biomimetic bilayer structure enables the symmetric cells with superior cyclability of over 600 h at a high current density of 10 mA cm-2. Moreover, the DSIEI allows stable operation of the full cells under constrained conditions of limited lithium excess, a high-loading LiNi0.8Co0.1Mn0.1O2 cathode, and a low negative/positive capacity (N/P) ratio. This work presents a powerful strategy for deigning artificial SEI and achieving high-energy-density Li metal batteries.

Sulfur vacancy and p-n junction synergistically boosting interfacial charge transfer and separation in ZnIn2S4/NiWO4 heterostructure for enhanced photocatalytic hydrogen evolution.

Constructing a p-n heterojunction with vacancy is advantageous for speeding up carrier separation and migration due to the synergy of the built-in electric field and electron capture of the vacancy. Herein, a sulfur vacancy riched-ZnIn2S4/NiWO4 p-n heterojunction (VZIS/NWO) photocatalyst was rationally designed and fabricated for photocatalytic hydrogen evolution. The composition and structure of VZIS/NWO were characterized. The existence of sulfur vacancy was confirmed through X-ray photoelectron spectroscopy, high-resolution transmission electron microscope, and electron paramagnetic resonance technology. The p-n heterojunction formed by ZnIn2S4 and NiWO4 was proved to provide a convenient channel to boost interfacial charge migration and separation. By reducing the band gap, the vacancy engineer can improve light absorption as well as serve as an electron trap to improve photo-induced electron-hole separation. Benefiting from the synergy of p-n heterojunction and vacancy, the optimal VZIS/NWO-5 catalyst exhibits dramatically enhanced H2 generation performance, which is about 10-fold that of the pristine ZnIn2S4. This work emphasizes the synergy between p-n heterojunction and sulfur vacancy for enhancing photocatalytic hydrogen evolution performance.

Multiple chemical valences induced interface regulation in perovskite nickelate/carbon nitride for boosting photocatalytic hydrogen evolution.

Recent developments in transition metal-based photocatalysts have heightened the need for superior solar utilization. Evidence suggests that properly adjusting the chemical valence of the transition metal elements could simultaneously achieve broad-spectrum absorption and efficient charge separation for the photocatalysts. However, the understanding and application of this strategy remain a significant challenge. Herein, a series of La0.9Ni0.8Co0.2O3-α/g-C3N4 (LNCO/CN) composites were synthesized employing a mild reduction procedure in the H2/Ar atmosphere. Experimental studies reveal that the composites regulated by interfacial coordination unsaturation Ni2+ and metal Ni0 possess accelerated Z-scheme charge transfer through the interfacial bond between Ni2+ and N. Besides, the localized-surface-plasmon-resonance-induced "hot electrons" injection process of in situ grown Ni0 nanoparticle is confirmed, which can efficiently quench the photoinduced holes and create hole vacancies around the interface. Due to the synergistic effect between Ni2+ and Ni0, the lifetime of the photo-excited electrons is prolonged with inhibited recombination behavior. After modulation, optimal LNCO/CN Z-scheme hybrid exhibits 9-fold promotion of photocatalytic hydrogen evolution rate compared to pristine LNCO/CN. This study gives valuable insight into the purposeful utilization of the chemical valence modulating strategy, which alters the chemical valence of transition metal elements to enhance the performance of perovskite-based photocatalysts dramatically.

Colloid Electrolyte with Weakly Solvated Structure and Optimized Electrode/Electrolyte Interface for Zinc Metal Batteries.

Aqueous zinc batteries are considered as a viable candidate for cost-effective and environmentally sustainable energy storage technology but are severely hampered by the notorious dendrite growth and parasitic reactions at the zinc anode side. Herein, we propose a bifunctional colloidal electrolyte design that utilizes upconversion nanocrystals, i.e., NaErF4@NaYF4, as a solid additive to provide the sustained release of functional metal and fluoride ions, which can effectively improve the reversibility of the Zn anode to inhibit dendrite growth and hydrogen evolution through forming an electrostatic shielding layer and in situ constructing a ZnF2-enriched protective interface. Experimental characterization and molecular dynamics simulation jointly confirm that the NaErF4@NaYF4 additive could modify the Zn2+ solvation environment in the vicinity of the NaErF4@NaYF4 surface via the strong electrostatic coupling with Zn2+ ions. As a consequence, the modified electrolyte enables stable zinc plating/stripping over 2100 h at a current density of 3 mA cm-2 and a capacity of 1 mAh cm-2 in symmetric cells. The assembled Zn||MnO2 full cells with a modified electrolyte can operate stably for 1600 cycles at 2 A g-1. This work thereby has great potential for the exploration of multifunctional electrolyte additives toward long-lasting aqueous Zn metal batteries.

Room-Temperature Self-Healing Soft Composite Network with Unprecedented Crack Propagation Resistance Enabled by a Supramolecular Assembled Lamellar Structure.

Soft self-healing materials are compelling candidates for stretchable devices because of their excellent compliance, extensibility, and self-restorability. However, most existing soft self-healing polymers suffer from crack propagation and irreversible fatigue failure due to easy breakage of their dynamic amorphous, low-energy polymer networks. Herein, inspired by distinct structure-property relationship of biological tissues, a supramolecular interfacial assembly strategy of preparing soft self-healing composites with unprecedented crack propagation resistance is proposed by structurally engineering preferentially aligned lamellar structures within a dynamic and superstretchable poly(urea-ureathane) matrix (which is elongated to 24 750× its original length). Such a design affords a world-record fracture energy (501.6 kJ m-2 ), ultrahigh fatigue threshold (4064.1 J m-2 ), and outstanding elastic restorability (dimensional recovery from 13 times elongation), and preserving low modulus (1.2 MPa), high stretchability (3200%), and high room-temperature self-healing efficiency (97%). Thereby, the resultant composite represents the best of its kind and even surpasses most biological tissues. The lamellar 2D transition-metal carbide/carbonitride (MXene) structure also leads to a relatively high in-plane thermal conductivity, enabling composites as stretchable thermoconductive skins applied in joints of robotics to thermal dissipation. The present work illustrates a viable approach how autonomous self-healing, crack tolerance, and fatigue resistance can be merged in future material design.

Effects of Ambient O3 on Respiratory Mortality, Especially the Combined Effects of PM2.5 and O3.

BACKGROUND: In China, the increasing concentration of ozone (O3) has emerged as a significant air pollution issue, leading to adverse effects on public health, particularly the respiratory system. Despite the progress made in managing air pollution in China, it is crucial to address the problem of environmental O3 pollution at present. METHODS: The connection between O3 exposure and respiratory mortality in Shenyang, China, from 2014 to 2018 was analyzed by a time-series generalized additive regression model (GAM) with quasi-Poisson regression. Additionally, the potential combined effects of fine particulate matter (PM2.5) and O3 were investigated using the synergy index (SI). RESULTS: Our findings indicate that each 10 µg/m3 increase in O3 at lag 2 days was associated with a maximum relative risk (RR) of 1.0150 (95% CI: 1.0098-1.0202) for respiratory mortality in the total population. For individuals aged ≥55 years, unmarried individuals, those engaged in indoor occupations, and those with low educational attainment, each 10 µg/m3 increase in O3 at lag 07 days was linked to RR values of 1.0301 (95% CI: 1.0187-1.0417), 1.0437 (95% CI: 1.0266-1.0610), 1.0317 (95% CI: 1.0186-1.0450), and 1.0346 (95% CI: 1.0222-1.0471), respectively. Importantly, we discovered a synergistic effect of PM2.5 and O3, resulting in an SI of 2.372 on the occurrence of respiratory mortality. CONCLUSIONS: This study confirmed a positive association between O3 exposure and respiratory mortality. Furthermore, it highlighted the interaction between O3 and PM2.5 in exacerbating respiratory deaths.

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.

Objective: The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with SCN2A variants. Methods: The SCN2A variants were detected by next-generation sequencing. All patients were followed up at a pediatric neurology clinic in our hospital or by telephone. Results: In 72 patients with SCN2A variants, the seizure onset age ranged from the first day of life to 2 years and 6 months. The epilepsy phenotypes included febrile seizures (plus) (n = 2), benign (familial) infantile epilepsy (n = 9), benign familial neonatal-infantile epilepsy (n = 3), benign neonatal epilepsy (n = 1), West syndrome (n = 16), Ohtahara syndrome (n = 15), epilepsy of infancy with migrating focal seizures (n = 2), Dravet syndrome (n = 1), early infantile epileptic encephalopathy (n = 15), and unclassifiable developmental and epileptic encephalopathy (n = 8). Approximately 79.2% (57/72) patients had varying degrees of developmental delay. All patients had abnormal MRI findings with developmental delay. 91.7% (55/60) patients with de novo SCN2A variants had development delay, while only 16.7% (2/12) patients with inherited SCN2A variants had abnormal development. 83.9% (26/31) SCN2A variants that were located in transmembrane regions of the protein were detected in patients with development delay. Approximately 69.2% (9/13) SCN2A variants detected in patients with normal development were located in the non-transmembrane regions. Approximately 54.2% (39/72) patients were seizure-free at a median age of 8 months. Oxcarbazepine has been used by 38 patients, and seizure-free was observed in 11 of them (11/38, 28.9%), while 6 patients had seizure worsening by oxcarbazepine. All 3 patients used oxcarbazepine and with seizure onset age > 1 year presented seizure exacerbation after taking oxcarbazepine. Valproate has been used by 53 patients, seizure-free was observed in 22.6% (12/53) of them. Conclusion: The phenotypic spectrum of SCN2A-related epilepsy was broad, ranging from benign epilepsy in neonate and infancy to severe epileptic encephalopathy. Oxcarbazepine and valproate were the most effective drugs in epilepsy patients with SCN2A variants. Sodium channel blockers often worsen seizures in patients with seizure onset beyond 1 year of age. Abnormal brain MRI findings and de novo variations were often related to poor prognosis. Most SCN2A variants located in transmembrane regions were related to patients with developmental delay.