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BACKGROUND: Bicuspid aortic valve (BAV) is the most common congenital heart disease. However, the prevalence, clinical characteristics, and current management of BAV associated with inherited cardiomyopathy, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and left ventricular noncompaction (LVNC) have not been well described. METHODS: Consecutive patients diagnosed with BAV at a large tertiary cardiovascular referral center between 2009 and 2018 were retrospectively assessed for HCM, DCM, and LVNC based on clinical and echocardiographic criteria. Patients with coexistent conditions were investigated further. RESULTS: Of 3533 patients with BAV screened, 57 (1.6%) had concomitant cardiomyopathy. BAV was combined with HCM in 30 of these patients, with DCM in 19, and with LVNC in eight. Forty-six patients (80.7%) were male, and the mean age at first diagnosis was 47 years for BAV with HCM, 49 years for BAV with DCM, and 35 years for BAV with LVNC. Heart failure and aortic valve dysfunction were common in these patients, and the prevalence of coexisting aortopathy was 43.3%, 26.3% and 25.0%, respectively, for BAV with HCM, DCM and LVNC. During the index hospitalization, 24 of the 57 patients (42.1%) underwent surgery, 16 (28%) underwent aortic valve and/or aortic surgery, and 16 of the 30 patients with HCM had a Morrow procedure. There were no deaths or other major adverse cardiovascular events. CONCLUSIONS: The prevalence of inherited cardiomyopathy was higher in our patients with BAV than in the general population. Aortopathy and heart failure were common, with almost half of patients requiring surgery at diagnosis.

Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease involving small-to-medium-sized arteries. The characteristics of Chinese patients with FMD remain unclear. We retrospectively analyzed the data of patients with renal FMD who underwent percutaneous transluminal renal angioplasty (PTRA) for the first time at Fuwai Hospital between 2010 and 2021. The variables were selected through least absolute shrinkage and selection operator regression (LASSO), and logistic regression models were constructed to identify independent risk factors. A total of 116 patients (52 males, median age at diagnosis, 25.0 years) were enrolled. Elevated blood pressure was the leading complaint. After a median follow-up period of 18.0 months (interquartile range: 6.0–48.0 months), hypertension recurred in 34 patients and restenosis in nine patients, among whom four patients underwent secondary intervention and one patient underwent surgical revascularization. Bilateral renal artery involvement (odds ratio [OR]: 2.61, 95% confidence interval [CI]: 1.11–6.15; p = 0.028) and age at hypertension onset (OR: 0.93, 95% CI: 0.88–0.99; p = 0.018) were independent prognostic factors for adverse outcomes. The results indicate that patients with bilateral renal artery involvement and younger age at hypertension onset are more likely to have poorer clinical outcomes after PTRA, and should be more closely monitored.

Left ventricular noncompaction (LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC family.A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband (I-2), the proband's daughter (II-1, affected) and mother (III-1, unaffected) were selected for WGS. Sanger sequencing were performed in all of the 4 surviving family members.Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein obscurin (Here we present clinical and genetic evidence implicating the novel R6355W missense mutation in obscurin as the cause of familial LVNC. This expands the spectrum of obscurin's roles in cardiomyopathies. It furthermore highlights that rare obscurin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. This study also provided new insights into the molecular basis of

The rise of the zhongxing (“gender in between”) phenomenon has attracted considerable attention in contemporary Taiwanese society. In spite of this increased cultural visibility, however, questions...

The interactive influences between carbon crystallinity and electrochemical activation (EA) on the capacitive behavior for a series of soft carbons (SCs) modified with KOH have been systematically examined for the high-voltage (≥ 4.0 V) super-capacitors in the conventional liquid electrolyte of 1 M tetraethylammonium tetra-fluoroborate/propylene carbonate (TEABF4/PC). The energy storage behavior of SCs without and with the KOH modification as well as before and after the EA treatment in various potential regions are investigated by galvanostatic charge/discharge (GCD) and cyclic voltammetry (CV) tests. Characterizations including scanning electron microscopy (SEM), X-ray diffraction (XRD), Raman spectroscopy, nitrogen adsorption/desorption isotherms are employed to probe possible changes in carbon structure after the KOH and EA treatments. The results show that the specific capacitance of SCs can be significantly promoted by the KOH modification through crystallinity reducing and the EA via the irreversible insertion of either BF4 − or TEA+. The EA process is found to be more effective for KOH-modified SCs with relatively low crystallinity. After the optimization of both positive and negative electrodes, a 4 V full cell with the specific energy of 71.2 and 54.9 Wh kg−1 at the specific power of 0.9 and 6.1 kW kg−1 can be obtained. This 4 V supercapacitor also delivers the superior energy density of 37.7 Wh l−1 at 0.5 kW l−1 and 29.1 Wh l−1 at 3.2 kW l−1. For the stability, the 4 V supercapacitor exhibits about 85% capacitance retention after 10000 GCD cycles. The results have demonstrated the application potential of KOH-modified SCs as promising electrode materials for the high-voltage supercapacitors.

In this study, electronic structure calculations and Bader charge analysis have been completed on the inverse, intermediate, and normal spinel structures of NiCo2O4 in both primitive and conventional cells, using density functional theory with Hubbard U correction. Three spinel structures have been computed in the primitive cell, where the fully inverse spinel, 50% intermediate spinel, and normal spinel can be acquired by swapping Ni and Co atoms on tetrahedral and octahedral sites. Furthermore, NiCo2O4 with different degrees of inversion in the conventional cells was also investigated, along with their doping energies. Confirmed by the assigned formal charges, magnetic moments, and decomposed density of state, our results suggest that the electronic properties of Ni and Co on the tetrahedral site can be altered by swapping Ni and Co atoms, whereas both Ni and Co on the octahedral site are uninfluenced. A simple and widely used model, crystal field theory, is also compared with our calculations and shows a consistent prediction about the cation distribution in NiCo2O4. This study analyzes the correlation between cation arrangements and formal charges, which could potentially be used to predict the desired electronic properties of NiCo2O4 for various applications.

Electrochemical investigations of the oxygen reduction reaction (ORR) and oxygen evolution reaction (OER) have been conducted in a Ca2+-containing dimethyl sulfoxide electrolyte. While the ORR appears irreversible, the introduction of a tetrabutylammonium perchlorate (TBAClO4) co-salt in excess concentrations results in the gradual appearance of a quasi-reversible OER process. Combining the results of systematic cyclic voltammetry investigations, the degree of reversibility depends on the ion pair competition between Ca2+ and TBA+ cations to interact with generated superoxide (O2−). When TBA+ is in larger concentrations, and large reductive overpotentials are applied, a quasi-reversible OER peak emerges with repeated cycling (characteristic of formulations without Ca2+ cations). In situ Raman microscopy and rotating ring-disc electrode (RRDE) experiments revealed more about the nature of species formed at the electrode surface and indicated the progressive evolution of a charge storage mechanism based upon trapped interfacial redox. The first electrochemical step involves generation of O2−, followed primarily by partial passivation of the surface by CaxOy product formation (the dominant initial reaction). Once this product matrix develops, the subsequent formation of TBA+--O2− is contained within the CaxOy product interlayer at the electrode surface and, consequently, undergoes a facile oxidation reaction to regenerate O2.

ObjectiveTo determine the prognostic role of big endothelin-1 (ET-1) in left ventricular non-compaction cardiomyopathy (LVNC).MethodsWe prospectively enrolled patients whose LVNC was diagnosed by cardiac MRI and who had big ET-1 data available. Primary end point was a composite of all-cause mortality, heart transplantation, sustained ventricular tachycardia/fibrillation and implanted cardioverter defibrillator discharge. Secondary end point was cardiac death or heart transplantation.ResultsAltogether, 203 patients (median age 44 years; 70.9% male) were divided into high-level (≥0.42 pmol/L) and low-level (ConclusionsPlasma big ET-1 may be a valuable index to predict the clinical adverse outcomes in patients with LVNC.

Purpose Apparent mineralocorticoid excess (AME) is an ultrarare autosomal recessive disorder resulting from deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) caused by mutations in HSD11B2. The purpose of this study was to identify novel compound heterozygous HSD11B2 mutations in a Chinese pedigree with AME and conduct a systematic review evaluating the AME clinical features associated with HSD11B2 mutations. Methods Next-generation sequencing was performed in the proband, and Sanger sequencing was used to identify candidate variants in family members, 100 hypertensives, and 100 healthy controls. A predicted structure of 11βHSD2 was constructed by in silico modeling. A systematic review was used to identify cases of HSD11B2-related AME. Data for genotyping and clinical characterizations and complications were extracted. Results Next-generation sequencing showed novel compound heterozygous mutations (c.343_348del and c.1099_1101del) in the proband with early-onset hypertension and hypokalemia. Sanger sequencing verified the monoallelic form of the same mutations in five other relatives but not in 100 hypertensives or 100 healthy subjects. In silico structural modeling showed that compound mutations may simultaneously perturb the substrate and coenzyme binding pocket. A systematic review of 101 AME patients with 54 HSD11B2 mutations revealed early-onset hypertension, hypokalemia and homozygous mutations as common features. The homozygous HSD11B2 mutations correlated with low birth weight (r = 0.285, P = 0.02). Conclusions We report novel compound heterozygous HSD11B2 mutations in a Chinese teenager with early-onset hypertension, and enriched genotypic and phenotypic spectrums in AME. Genetic testing helps early diagnosis and treatment for AME patients, which may avoid target organ damage.

Introduction: Liddle syndrome (LS), an autosomal dominant and inherited monogenic hypertension syndrome caused by pathogenic mutations in the epithelial sodium channel (ENaC) genes SCNN1A, SCNN1B, and SCNN1G. Objective: This study was designed to identify a novel SCNN1B missense mutation in a Chinese family with a history of stroke, and to confirm that the identified mutation is responsible for LS in this family. Methods: DNA samples were collected from the proband and 11 additional relatives. Next-generation sequencing was performed in the proband to find candidate variants. In order to exclude genetic polymorphism, the candidate variantin SCNN1B was verified in other family members, 100 hypertensives, and 100 healthy controls by Sanger sequencing. Results: Genetic testing revealeda novel and rare heterozygous variant in SCNN1B in the proband. This variant resulted in a substitution of threonine instead of proline at codon 617, altering the PY motif of β-ENaC. The identified mutation was only verified in 5 relatives. In silico analyses indicated that this variant was highly pathogenic. In this family, phenotypic heterogeneity was present among 6 LS patients. Tailored medicine with amiloride was effective in controlling hypertension and improving the serum potassium concentration in patients with LS. Conclusions:We identified a novel SCNN1B mutation (c.1849C>A) in a family affected by LS. Patients with LS, especially those with severe hypertension, should be alert for the occurrence of premature stroke. Timely diagnosis using genetic testing and tailored treatment with amiloride can help LS patients to avoid severe complications.

BACKGROUND: Hydrophobic interaction chromatography (HIC), as a typical separation technology, often suffers from low selectivity because it has a single interaction mode. Herein, a novel HIC resin (Octyl@BSA) with imprinted layer was synthesized and used for protein adsorption. Bovine serum albumin (BSA) and bovine serum γ‐globulin (bIgG) were used as model competitive proteins in this study. The effects of pH, salt type, concentration, and mass ratio were then investigated. RESULTS: The data from the static and dynamic adsorption experiments indicated that the introduction of spatial recognition effectively reduced the adsorption of competitive proteins, leading to significant improvements in selectivity. In comparison with raw HIC resin, Octyl@BSA retained a high binding capacity for BSA but rejected other proteins through spatial recognition. The maximum selectivity factors (α) of this resin may be close to 5. The adsorption kinetics and frontal adsorption experiments further confirmed the improvement in selectivity in batch and column mode. In addition, the recyclability of Octyl@BSA was tested using ten continuous BSA adsorption–desorption cycles. CONCLUSION: This study demonstrated that the introduction of spatial recognition was an effective strategy for enhancing the advantage of target proteins during competitive adsorption, leading to an improvement in selectivity for HIC. © 2020 Society of Chemical Industry

Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare, especially in patients with electrolyte disorders. Single genetic alterations are associated with plasma volume expansion and catecholamines/sympathetic excess with simultaneously increased potassium excretion in the urine and potassium intracellular shift. Early-onset refractory hypertension and profound hypokalemia are characteristics of monogenic hypertension. However, accumulated evidence shows the existence of phenotypic heterogeneity in monogenic hypertension meaning that, even for mild symptoms, clinicians cannot easily exclude the possibility of monogenic hypertension. Genetic, epigenetic and non-genetic factors are all possible mechanisms influencing phenotypic diversity. Genetic sequencing is a precise and efficient method that can broaden the mutant gene spectrum of the disease and is very helpful for understanding the pathophysiology of monogenic hypertension. Genetic sequencing, along with biochemical tests and imaging modalities, is essential for the early diagnosis and targeted management of monogenic hypertension to avoid long-term catastrophic complications.

Familial PHEOs (pheochromocytomas) are inherited as an autosomal dominant trait, and inherited PHEOs can be one clinical phenotype of clinical syndromes, such as multiple endocrine neoplasia type 2A (MEN2A). In recent years, there has been a lot of controversy about the factors affecting the penetrance of PHEOs in MEN2A, of which the effects of RET (rearranged during transfection) proto-oncogene mutations are the primary concern. In this report, we performed genetic screening of patients in one family presenting with PHEOs and found they carried a RET c.1901G>A mutation. They were ultimately diagnosed with familial MEN2A. We found that MEN2A patients with the RET c.1901G>A mutation tended to have bilateral PHEOs that appeared earlier than medullary thyroid carcinoma. Genetic analysis showed that the patients also carried novel SLC12A3 (solute carrier family 12 member 3) variants, which are highly associated with Giteman syndrome. The results of protein structure prediction models suggest this SLC12A3 mutant has altered both the protein structure and the interaction with surrounding amino acids. Further studies of the phenotypes and related mechanisms of the gene mutations are required to guide individual assessment and treatment.

Electrochemical investigations of the oxygen reduction reaction (ORR) and oxygen evolution reaction (OER) have been conducted in a Ca2+-containing dimethyl sulfoxide electrolyte. While the ORR appears irreversible, the introduction of a tetrabutylammonium perchlorate (TBAClO4) co-salt in excess concentrations results in the gradual appearance of a quasi-reversible OER process. Combining the results of systematic cyclic voltammetry investigations, the degree of reversibility depends on the ion pair competition between Ca2+ and TBA+ cations to interact with generated superoxide (O2−). When TBA+ is in larger concentrations, and large reductive overpotentials are applied, a quasi-reversible OER peak emerges with repeated cycling (characteristic of formulations without Ca2+ cations). In situ Raman microscopy and rotating ring-disc electrode (RRDE) experiments revealed more about the nature of species formed at the electrode surface and indicated the progressive evolution of a charge storage mechanism based upon trapped interfacial redox. The first electrochemical step involves generation of O2−, followed primarily by partial passivation of the surface by CaxOy product formation (the dominant initial reaction). Once this product matrix develops, the subsequent formation of TBA+--O2− is contained within the CaxOy product interlayer at the electrode surface and, consequently, undergoes a facile oxidation reaction to regenerate O2., An interlayer product of oxygen reduction with Ca2+/TBA+ yields a quasi-reversible oxygen evolution reaction by inducing a trapped interfacial redox process.

We simulated a linear wavenumber arrayed waveguide grating (AWG) as spectrometer in SD-OCT. With this configuration, we save computational cost for resampling wavelength spectrum. Linear wavenumber AWG can maintain the axial resolution for all depth response.

We design Mach-Zehnder directional coupler (MZDC) and tandem MZDC on a silicon chip by using particle swarm optimization algorithm. We obtained wavelength flatness of more than 100 nm and 180 nm, respectively, with ±20 nm process-width variation.

Acute appendicitis is one of the most common pediatric abdominal emergencies. Early diagnosis is vital for a positive outcome. However, it may initially present with diarrhea and vomiting, mimicking acute gastroenteritis, thus delaying prompt surgery. Differentiating appendicitis from gastroenteritis in a timely manner poses a challenge. Therefore, we aim to investigate the predictors that help distinguish acute appendicitis from acute gastroenteritis. We conducted a retrospective case-control study, evaluating children admitted due to abdominal pain with diarrhea. Subjects were divided into two groups according to the final diagnoses: acute appendicitis and acute gastroenteritis. We adopted multiple logistic regression analysis and the area under the receiver operating characteristic curve to identify independent predictors of acute appendicitis and select the best model. A total of 32 patients diagnosed with appendicitis and 82 patients with gastroenteritis were enrolled. Five independent predictors of acute appendicitis included vomiting, right lower quadrant (RLQ) pain, stool occult blood (OB), white blood cell (WBC) count, and C-reactive protein (CRP). The revised combined model exhibited a higher degree of discrimination and outperformed the pediatric appendicitis score (PAS) model. In conclusion, our study was proved to be helpful for assessing cases with abdominal pain and diarrhea in order to more accurately distinguish appendicitis from gastroenteritis in children in a timely manner.

As climate change issues arise and become a global concern, to reduce carbon emissions has become an urgent issue to respond to. Therefore, the application of renewable energy plays more and more important roles in the energy domain nowadays, which may also bring significant impacts to the low-carbon electricity market transition. With the advantages of developing renewable energy, the Taiwan government anticipates achieving the goal of reaching 20% renewable energy in electricity structure by 2025. Moreover, Taiwan has carried out the most vigorous amendment on the Electricity Act in history to open the electricity market so that more stakeholders can participate in it to propel energy transition. Since the UK is the lead in this field, it is worth investigating. This paper takes the UK as a case study to analyze its evolution in recent decades after the deregulation of its electricity market from the retail side perspective. It expects to explore how the transition drove actors to empower their roles, or even create new roles and responsibilities, and engage in the low-carbon electricity market transition pathway. This paper expects the UK case as a great reference for Taiwan, which echoes the current scenario in Taiwan with the potential to deliver further insights.

We design and compare the splitting ratio wavelength flatness of directional coupler (DC), Mach-Zehnder directional coupler (MZDC), and tandem MZDC. All coupler responses are analyzed, and tandem MZDC performance is the best in the wavelength insensitivity compared with the other two. An MZDC with any coupling ratio could be utilized to match the maximum flatness in a 40-nm wavelength range. To extend a broad flatness range, the tandem MZDC is proposed and still follows the Mach Zehnder structure taking two MZDCs as couplers connected through a decoupled region. Unlike DC, MZDC with the flat wavelength response has a non-linear output phase. Hence, using two wavelength-insensitive MZDCs as the coupling function in a tandem MZDC could demonstrate a more extensive decoupled phase term to maximize the flat wavelength response. The tandem MZDC theoretically demonstrates the splitting ratio with 100-nm flatness in the wavelength range from 1250 nm to 1350 nm. Finally, a point spread function through the tandem MZDC shows a 24-dB signal-to-noise ratio improvement in optical coherence tomography applications.

A tandem Mach-Zehnder directional coupler (MZDC) demonstrates maximally flat wavelength-insensitive optical power divider compared with directional coupler and MZDC. Its 100-nm wavelength response could enhance the signal-to-noise ratio of optical coherence tomography up to 24-dB.

A tandem Mach-Zehnder directional coupler (MZDC) demonstrates maximally flat wavelength-insensitive optical power divider compared with directional coupler and MZDC. Its 100-nm wavelength response could enhance the signal-to-noise ratio of optical coherence tomography up to 24-dB.

The oxygen reduction reaction (ORR) and oxygen evolution reaction (OER) are vital to the operation of rechargeable zinc-air batteries. This work demonstrates that both the intrinsic activity and the electrochemically active surface area (ECSA) of the oxide-carbon composites are key factors determining the overall catalytic activity. Here, we revisit the possible use of mesocarbon microbeads (MCMBs) as a support to improve the bifunctional activity of NiCo2O4 (NCO). Pre-treatments including oxidation and expansion of MCMB have been applied to obtain two types of modified MCMBs. The abundant functional groups on the oxidized MCMB (OMCMB) provide strong interaction between oxide and carbon, although a relatively low electrical conductivity is obtained. Compared to OMCMB, the expanded MCMB (EMCMB) with less functional groups shows a much larger surface area and presumably higher conductivity. The three-electrode tests reveal that the composite supported by OMCMB-3h (i.e., 3-h oxidation treatment) has a moderate intrinsic activity of the OER and the highest ECSA, leading to the enhanced bifunctional activities. The charge-discharge test of a rechargeable zinc-air battery at various current densities shows the cycling stability of NCO/OMCMB-3h at 150 mA cm−2, which also can be cycled at 15 mA cm−2 for 60 h without obvious decay.

Potassium-pre-intercalated δ-phase MnO2 is uniformly grown on carbon nanofibers for the positive electrode of asymmetric supercapacitors. An electrospun CNF is chemically activated with KOH at 800 °C for the negative electrode, showing ideal capacitive behavior. The crystallinity of MnO2 is significantly reduced by the pre-intercalation of K ions into its layered structure. This textural characteristic is beneficial to the K+ diffusion into/out the interlayer structure, leading to effective utilization of the electroactive material of KxMnO2. This unique composite electrode provides both ideal pseudo-capacitive behavior from KxMnO2 and excellent electric conductivity from the CNF network, exhibiting a fairly high specific capacitance value of 279 F g-1 at 1 A g−1 with ca. 82.3% capacitance retention from 1 to 32 A g−1. A flexible ASC consisting of the positive KxMnO2@CNF electrode, a paper separator, and the negative ACNF electrode is successfully assembled. This cell shows superior ASC performances: a high cell voltage between 0 and 2 V, excellent capacitance retention (10,000 cycles with 10% decay), and simultaneously reaching high specific energy and power of 21.1 Wh kg−1 and 9.5 kW kg−1. The charge storage behavior of this cell without bending and with a bending angle of 90° shows no apparent difference, demonstrating its potential in the next-generation flexible energy storage devices.

The sodium-pre-intercalated δ-MnO2 is in-situ grown on carbon nanofiber via a simple, one-step method for the application of asymmetric supercapacitors. The pre-intercalation of Na ions into the layered structure of δ-MnO2 reduces the crystallinity, beneficial to Na+ diffusion into/out the interlayer structure and pseudocapacitive utilization of MnO2. This NaxMnO2@CNF nanocomposite with desirable pseudo-capacitance from δ-NaxMnO2 and high electric conductivity from CNF network shows a high specific capacitance of 321 F g−1 at 1 A g−1 with ca. 75.2% capacitance retention from 1 to 32 A g−1. An ASC cell consisting of this nanocomposite and activated carbon as the positive and negative electrodes can be reversibly charged and discharged to a cell voltage of 2.0 V in 1 M Na2SO4 and 4 mM NaHCO3 with specific energy and power of 21 Wh kg−1 and 1 kW kg−1, respectively. This ASC also shows excellent cell capacitance retention (7% decay) in the 2 V, 10,000-cycle stability test, revealing superior performance.