Palmitic acid impairs human and mouse placental function by inhibiting trophoblast autophagy through induction of acyl-coenzyme A-binding protein (ACBP) upregulation.

STUDY QUESTION: Can exposure to palmitic acid (PA), a common saturated fatty acid, modulate autophagy in both human and mouse trophoblast cells through the regulation of acyl-coenzyme A-binding protein (ACBP)? SUMMARY ANSWER: PA exposure before and during pregnancy impairs placental development through mechanisms involving placental autophagy and ACBP expression. WHAT IS KNOWN ALREADY: High-fat diets, including PA, have been implicated in adverse effects on human placental and fetal development. Despite this recognition, the precise molecular mechanisms underlying these effects are not fully understood. STUDY DESIGN, SIZE, DURATION: Extravillous trophoblast (EVT) cell line HTR-8/SVneo and human trophoblast stem cell (hTSC)-derived EVT (hTSCs-EVT) were exposed to PA or vehicle control for 24 h. Female wild-type C57BL/6 mice were divided into PA and control groups (n = 10 per group) and subjected to a 12-week dietary intervention. Afterward, they were mated with male wild-type C57BL/6 mice and euthanized on Day 14 of gestation. Female ACBPflox/flox mice were also randomly assigned to control and PA-exposed groups (each with 10 mice), undergoing the same dietary intervention and mating with ACBPflox/floxELF5-Cre male mice, followed by euthanasia on Day 14 of gestation. The study assessed the effects of PA on mouse embryonic development and placental autophagy. Additionally, the role of ACBP in the pathogenesis of PA-induced placental toxicity was investigated. PARTICIPANTS/MATERIALS, SETTING, METHODS: The findings were validated using real-time PCR, Western blot, immunofluorescence, transmission electron microscopy, and shRNA knockdown approaches. MAIN RESULTS AND THE ROLE OF CHANCE: Exposure to PA-upregulated ACBP expression in both human HTR-8/SVneo cells and hTSCs-EVT, as well as in mouse placenta. PA exposure also induced autophagic dysfunction in HTR-8/SVneo cells, hTSCs-EVT, and mouse placenta. Through studies on ACBP placental conditional knockout mice and ACBP knockdown human trophoblast cells, it was revealed that reduced ACBP expression led to trophoblast malfunction and affected the expression of autophagy-related proteins LC3B-II and P62, thereby impacting embryonic development. Conversely, ACBP knockdown partially mitigated PA-induced impairment of placental trophoblast autophagy, observed both in vitro in human trophoblast cells and in vivo in mice. LARGE SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: Primary EVT cells from early pregnancy are fragile, limiting research use. Maintaining their viability is tough, affecting data reliability. The study lacks depth to explore PA diet cessation effects after 12 weeks. Without follow-up, understanding postdiet impacts on pregnancy stages is incomplete. Placental abnormalities linked to elevated PA diet in embryos lack confirmation due to absence of control groups. Clarifying if issues stem solely from PA exposure is difficult without proper controls. WIDER IMPLICATIONS OF THE FINDINGS: Consuming a high-fat diet before and during pregnancy may result in complications or challenges in successfully carrying the pregnancy to term. It suggests that such dietary habits can have detrimental effects on the health of both the mother and the developing fetus. STUDY FUNDING/COMPETING INTEREST(S): This work was supported in part by the National Natural Science Foundation of China (82171664, 82301909) and the Natural Science Foundation of Chongqing Municipality of China (CSTB2022NS·CQ-LZX0062, cstc2019jcyj-msxmX0749, and cstc2021jcyj-msxmX0236). The authors declare that they have no conflict of interest. TRIAL REGISTRATION NUMBER: N/A.

Photonic convolution accelerator based on a hybrid integrated multi-wavelength laser array by photonic wire bonding for real-time image classification.

We propose and experimentally demonstrate a compact and efficient photonic convolution accelerator based on a hybrid integrated multi-wavelength DFB laser array by photonic wire bonding. The photonic convolution accelerator operates at 60.12 GOPS for one 3 × 3 kernel with a convolution window vertical sliding stride of 1 and generates 500 images of real-time image classification. Furthermore, real-time image classification on the MNIST database of handwritten digits with a prediction accuracy of 93.86% is achieved. This work provides a novel, to the best of our knowledge, compact hybrid integration platform to realize the optical convolutional neural networks.

Risk factors for invasive pulmonary aspergillosis in patients with severe fever with thrombocytopenia syndrome: A multicenter retrospective study.

Invasive pulmonary aspergillosis (IPA) is a life-threatening complication in patients with severe fever with thrombocytopenia syndrome (SFTS), yet SFTS-associated IPA (SAPA)'s risk factors remain undefined. A multicenter retrospective cohort study across Hubei and Anhui provinces (May 2013-September 2022) utilized least absolute shrinkage and selection operator (LASSO) regression for variable selection. Multivariable logistic regression identified independent predictors of SAPA, Cox regression highlighted mortality-related risk factors. Of the 1775 screened SFTS patients, 1650 were included, with 169 developing IPA, leading to a 42-day mortality rate of 26.6% among SAPA patients. Multivariable logistic regression revealed SAPA risk factors including advanced age, petechia, hemoptysis, tremor, low albumin levels, elongated activated partial thromboplastin time (APTT), intensive care unit (ICU) admission, glucocorticoid usage, intravenous immunoglobulin (IVIG) and prolonged hospital stays. Cox regression identified predictors of 42-day mortality, including ecchymosis at venipuncture sites, absence of ICU admission, elongated prothrombin time (PT), vasopressor and glucocorticoid use, non-antifungals. Nomograms constructed on these predictors registered concordance indexes of 0.855 (95% CI: 0.826-0.884) and 0.778 (95% CI: 0.702-0.854) for SAPA onset and 42-day mortality, respectively. Lower survival rates for SAPA patients treated with glucocorticoids (p < 0.001) and improved 14-day survival with antifungal therapy (p = 0.036). Improving IPA management in SFTS-endemic areas is crucial, with effective predictive tool.

Myocardial perfusion improvement and mechanism after percutaneous intramyocardial septal radiofrequency ablation in obstructive hypertrophic cardiomyopathy: a study of myocardial contrast echocardiography.

The data on myocardial perfusion of the percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) for obstructive hypertrophic cardiomyopathy (HOCM) are still lacking, although PIMSRA have been proved to be of great safety and efficacy. The aim of this study was to quantitatively analyze the changes in myocardial perfusion after PIMSRA using myocardial contrast echocardiography (MCE). 27 HOCM patients treated with PIMSRA were retrospectively analyzed, and their echocardiographic parameters and perfusion parameters of MCE were collected before and 12 months after PIMSRA. A reperfusion curve was used to quantify microvascular blood volume (A), microvascular flux rate (ß), and microvascular blood flow (MBF) of each segment. Then the value difference (Δ) of parameters between post- and pre-operation were calculated. Finally, the correlation between the changes in MBF and in each echocardiographic parameter was analyzed. (1) Compared with baseline, the global A, ß and MBF were significantly increased in HOCM patients after PIMSRA (all P < 0.001). The ß, MBF were increased in the interventricular septum (P < 0.001, respectively), and the A, ß, MBF were increased in the left ventricular wall (all P < 0.001). (2) Correlation analysis showed that the ΔMBF of interventricular septum was mainly negatively correlated with the maximum interventricular septum thickness (ΔIVSTmax, r=-0.670, P < 0.001), mean interventricular septum thickness (ΔIVSTmean, r=-0.690, P < 0.001), and left ventricular mass index (ΔLVMI, r=-0.774, P < 0.001), while the ΔMBF of left ventricular wall was positively correlated with left ventricular end-diastolic volume index (ΔLVEDVI, r = 0.621, P = 0.001) and stroke volume index (ΔSVI, r = 0.810, P < 0.001). Myocardial perfusion was improved at both interventricular septum and ventricular wall in HOCM patients after PIMSRA. MCE can provide a new dimension for the efficacy evaluation to PIMSRA procedure.

Characterizing the emission trends and pollution evolution patterns during the transition period following COVID-19 at an industrial megacity of central China.

After the resumption of work and production following the COVID-19 pandemic, many cities entered a "transition phase", characterized by the gradual recovery of emission levels from various sources. Although the overall PM2.5 emission trends have recovered, the specific changes in different sources of PM2.5 remain unclear. Here, we investigated the changes in source contributions and the evolution pattern of pollution episodes (PE) in Wuhan during the "transition period" and compared them with the same period during the COVID-19 lockdown. We found that vehicle emissions, industrial processes, and road dust exhibited significant recoveries during the transition period, increasing by 5.4%, 4.8%, and 3.9%, respectively, during the PE. As primary emissions increased, secondary formation slightly declined, but it still played a predominant role (accounting for 39.1∼ 43.0% of secondary nitrate). The reduction in industrial activities was partially offset by residential burning. The evolution characteristics of PE exhibited significant differences between the two periods, with PM2.5 concentration persisting at a high level during the transition period. The differences in the evolution patterns of the two periods were also reflected in their change rates at each stage, which mostly depend on the pre-PE concentration level. The transition period shows a significantly higher value (8.4 µg m-3 h-1) compared with the lockdown period, almost double the amount. In addition to local emissions, regional transport should be a key consideration in pollution mitigation strategies, especially in areas adjacent to Wuhan. Our study quantifies the variations in sources between the two periods, providing valuable insights for optimizing environmental planning to achieve established goals.

Characteristics and correlation analysis of heavy metal distribution in China's freshwater aquaculture pond sediments.

The concentration of heavy metals (HMs) in aquaculture pond sediments significantly affects aquatic food safety and environmental quality. The contamination characteristics, drivers and potential sources of HMs in typical bulk freshwater aquaculture pond sediments in major provinces of China were systematically investigated using a variety of methods and models. Specifically, 130 surface sediment samples were collected from the study area, and the geoaccumulation index (Igeo) and potential ecological risk index (RI) were used to jointly evaluate the characteristics of the HMs. Spearman's correlation and redundancy analysis revealed the main drivers of the HMs. Additionally, the positive matrix factorization (PMF) model and absolute principal component score-multiple linear regression (APCS-MLR) model were used to identify the sources of HMs. The results revealed that the pond sediments were safe for fish culture in most of the study areas. Aquafeed protein content is an important driver of HM concentrations in sediments. The total organic carbon (TOC) content, percentage of clay particles, and pH of the aquaculture pond sediments determined the sediment HMs enrichment abilities as 13.6 %, 52 %, and 9.8 %, respectively. Cd, a significantly enriched pollutant, posed a greater ecological risk than the other five HMs (Cr, Cu, Zn, As, and Pb). Three sources of HMs were identified, including agricultural activity (e.g., aquafeeds, pesticides, and fertilizers), industrial production, and natural sources, with contributions of 44.29 %, 36.66 %, and 19.05 %, respectively. This study provides a scientific basis for minimizing the input and accumulation of HMs in freshwater aquaculture pond sediments, and this can provide insights into the prevention and control of the ecological risks posed by HMs.

The effects of antioxidant supplementation on short-term mortality in sepsis patients.

Background: The occurrence and development of sepsis are related to the excessive production of oxygen free radicals and the weakened natural clearance mechanism. Further dependable evidence is required to clarify the effectiveness of antioxidant therapy, especially its impact on short-term mortality. Objectives: The purpose of this systematic review and meta-analysis was to evaluate the effect of common antioxidant therapy on short-term mortality in patients with sepsis. Methods: According to PRISMA guidelines, a systematic literature search on antioxidants in adults sepsis patients was performed on PubMed/Medline, Embase, and the Cochrane Library from the establishment of the database to November 2023. Antioxidant supplements can be a single-drug or multi-drug combination: HAT (hydrocortisone, ascorbic acid, and thiamine), ascorbic acid, thiamine, N-acetylcysteine and selenium. The primary outcome was the effect of antioxidant treatment on short-term mortality, which included 28-day mortality, in-hospital mortality, intensive care unit mortality, and 30-day mortality. Subgroup analyses of short-term mortality were used to reduce statistical heterogeneity and publication bias. Results: Sixty studies of 130,986 sepsis patients fulfilled the predefined criteria and were quantified and meta-analyzed. Antioxidant therapy reduces the risk of short-term death in sepsis patients by multivariate meta-analysis of current data, including a reduction of in-hospital mortality (OR = 0.81, 95% CI 0.67 to 0.99; P = 0.040) and 28-day mortality (OR = 0.81, 95% CI 0.69 to 0.95]; P = 0.008). Particularly in subgroup analyses, ascorbic acid treatment can reduce in-hospital mortality (OR = 0.66, 95% CI 0.90 to 0.98; P = 0.006) and 28-day mortality (OR = 0.43, 95% CI 0.24 to 0.75; P = 0.003). However, the meta-analysis of RCTs found that antioxidant therapy drugs, especially ascorbic acid, did substantially reduce short-term mortality(OR = 0.78, 95% CI 0.62 to 0.98; P = 0.030; OR = 0.57, 95% CI 0.36 to 0.91; P = 0.020). Conclusions: According to current data of RCTs, antioxidant therapy, especially ascorbic acid, has a trend of improving short-term mortality in patients with sepsis, but the evidence remains to be further demonstrated.

Recycling of manganese ore desulfurization slag for preparation of low-temperature NH3-SCR catalyst with good scale-up production performance.

Considering the synergistic carbon/pollution reduction and resource utilization, this study proposes recycling of manganese desulfurization slag to prepare low-temperature NH3 -SCR catalyst based on solid-state ion-exchange. The desulfurization slag was hydrothermally treated to be support under mild conditions, with the parent manganese oxide ore serving as active component. Hydrothermal treatment with a desulfurization slag to NaOH mass ratio of 1.0, at 100 °C for 10 h were actually cost-effective conditions for DS recycling. The catalyst with 13.6 wt% of Mn and activated at 450 °C for 2 h in air (MO3/DSH-450 -2) performed the best, with a NO conversion of 86.9% at 150 °C and 10000 h-1, and up to 92.6% at 175 °C. Hydrothermal treatment of DS, SSIE and calcination activation resulting in a rich surface acidity and lattice oxygen of MO3/DSH, coupled with better chemical state distribution of active metal sites, promoting the NH3 -SCR activity. The scale-up produced MO3/DSH-G maintained 90.4% NOx conversion at 175 °C, showing good robustness, flexibility, and better sulfur/water resistance. The development of MO3/DSH catalyst may make full use of natural manganese ore, is a typical coupling strategy for carbon-pollutant synergistic emission reduction and resource fully utilize.

Characteristics of number concentration, size distribution and components of particulate matter emitted from a typical large civil airport.

Civil airports are recognized as significant contributors to fine particulate matter, especially ultra-fine particulate matter (UFP). The pollutants from airport activities have a notable adverse impact on global climate, urban air quality, and public health. However, there is a lack of practical observational studies on the characterization of integrated pollutant emissions from large civil airports. This study aims to focus on the combined emission characteristics of particulate number concentration (PNC), size distribution, and components at a large civil airport, especially UFP. The findings reveal that airport activities significantly contribute to elevated PNC levels during aircraft activity in downwind conditions (four times higher than background levels) and upwind conditions (7.5 times higher). UFP dominates the PNC around the airport. The particle size distribution shows two peaks occurring around 10-30 nm and 60-80 nm. Notably, particles within the ranges of 17-29 nm and 57-101 nm account for 65.9 % and 12.0 % of the total PNC respectively. Aircraft landing has the greatest impact on particles sized between 6 and 17 nm while takeoff affects particles sized between 29 and 57 nm resulting in a respective increase in PNC by factors of approximately 3.27 and 35.4-fold increase compared to background levels. Different aircraft types exhibit varying effects on PNC with A320 and A321 showing more pronounced effects during takeoff and landing.The presence of airports leads to roughly five-fold rise in elemental component concentrations with Si being highest followed by OC, Ca, Al, Fe, Ca2+, EC, and Mg2+. The OC/EC ratio under high aircraft activity in downwind conditions falls within range of approximately 2.5-3.5. These characteristic components and ratio can be considered as identifying species for civil airports. PMF model show about 75 % of the particulate emissions at the airport boundary were related to airport activities.

Adsorption removal of cationic dyes from wastewater using the corn straw modified with diethylenetriaminepentacetic acid ligand.

Taking the thiazide cationic dye methylene blue (MB), triphenylmethane cationic dye crystal violet (CV), monoazo cationic dye cationic red 46 (R-46), and polycarboxycyanine cationic dye cationic rosé FG (P-FG) as the research objects, the adsorption behaviors of a self-made corn straw modified adsorbent HQ-DTPA-I for the dyes were investigated in depth. Under optimized conditions, HQ-DTPA-I can quickly adsorb most dyes within 3 min and reach equilibrium adsorption in 15-20 min. The removal rates of HQ-DTPA-I to MB, CV, R-46 and AP-FG can reach 95.28 %, 99.78 %, 99.28 % and 98.53 %, respectively. It also has good anti-interference ability for common ions present in most actual dye wastewater. For six consecutive adsorption-desorption cycles, the adsorption performance of HQ-DTPA-I can still reach 80.17 %, 81.61 %, 90.77 % and 83.48 % of the initial adsorption capacity, indicating good recovery performance. Based on Gaussian density functional theory to calculate its surface potential energy, it is found that the adsorption mechanism of HQ-DTPA-I for the cationic dyes is mainly due to the electrostatic interaction between the carboxyl groups in ligand DTPA and amino groups in dye molecules.

Non-Equivalent Donor-Acceptor Type Polymers as Dopant-Free Hole-Transporting Materials for Perovskite Solar Cells.

Electron donor (D)-electron acceptor (A) type conjugated polymers present bright prospects as dopant-free hole-transporting materials (HTMs) for perovskite solar cells (PVSCs). Most of the reported D-A polymeric HTMs contain equivalent amounts of D and A units, while the appropriate excess proportion of D units could optimize the aggregation state of polymer chains and improve the hole transport properties of the polymers. Herein, a non-equivalent D-A copolymerization strategy was utilized to develop three indacenodithiophene-benzotriazole-based polymeric HTMs for PVSCs, named as F-10, F-15, and F-20, and the equivalent D-A polymer F-00 was studied in parallel. Effects of D : A ratio on the hole transport properties of these D-A type polymeric HTMs, including energy level, molecular stacking, hole mobility, and surface morphology, were investigated by theoretical simulation and test analysis. F-15 performed best due to the appropriate D : A ratio, endowing the PVSCs a champion power conversion efficiency of 20.37 % with high stability, which confirms the fine-tuning D : A ratio via non-equivalent D-A copolymerization strategy is very helpful to construct D-A type polymeric HTMs for high-performance PVSCs.

A cross talk between microbial metabolites and host immunity: Its relevance for allergic diseases.

BACKGROUND: Allergic diseases, including respiratory and food allergies, as well as allergic skin conditions have surged in prevalence in recent decades. In allergic diseases, the gut microbiome is dysbiotic, with reduced diversity of beneficial bacteria and increased abundance of potential pathogens. Research findings suggest that the microbiome, which is highly influenced by environmental and dietary factors, plays a central role in the development, progression, and severity of allergic diseases. The microbiome generates metabolites, which can regulate many of the host's cellular metabolic processes and host immune responses. AIMS AND METHODS: Our goal is to provide a narrative and comprehensive literature review of the mechanisms through which microbial metabolites regulate host immune function and immune metabolism both in homeostasis and in the context of allergic diseases. RESULTS AND DISCUSSION: We describe key microbial metabolites such as short-chain fatty acids, amino acids, bile acids and polyamines, elucidating their mechanisms of action, cellular targets and their roles in regulating metabolism within innate and adaptive immune cells. Furthermore, we characterize the role of bacterial metabolites in the pathogenesis of allergic diseases including allergic asthma, atopic dermatitis and food allergy. CONCLUSION: Future research efforts should focus on investigating the physiological functions of microbiota-derived metabolites to help develop new diagnostic and therapeutic interventions for allergic diseases.

Single-pixel p-graded-n junction spectrometers.

Ultra-compact spectrometers are becoming increasingly popular for their promising applications in biomedical analysis, environmental monitoring, and food safety. In this work, we report a single-pixel-photodetector spectrometer with a spectral range from 480 nm to 820 nm, based on the AlGaAs/GaAs p-graded-n junction with a voltage-tunable optical response. To reconstruct the optical spectrum, we propose a tailored method called Neural Spectral Fields (NSF) that leverages the unique wavelength and bias-dependent responsivity matrix. Our spectrometer achieves a high spectral wavelength accuracy of up to 0.30 nm and a spectral resolution of up to 10 nm. Additionally, we demonstrate the high spectral imaging performance of the device. The compatibility of our demonstration with the standard III-V process greatly accelerates the commercialization of miniaturized spectrometers.

Identification of Skp1 as a target of mercury sulfide for neuroprotection.

Mercury sulfide (HgS) exerts extensive biological effects on neuronal function. To investigate the direct target of HgS in neuronal cells, we developed a biotin-tagged HgS probe (bio-HgS) and employed an affinity purification technique to capture its target proteins. Then, we identified S-phase kinase-associated protein 1 (Skp1) as a potential target of HgS. Unexpectedly, we discovered that HgS covalently binds to Skp1 through a "Cys62-HgS-Cys120" mode. Moreover, our findings revealed that HgS inhibits the ubiquitin-protease system through Skp1 to up-regulate SNAP-25 expression, thereby triggering synaptic vesicle exocytosis to regulate locomotion ability in C. elegans. Collectively, our findings may promote a comprehensive interpretation of the pharmacological mechanism of mercury sulfide on neuroprotective function.

Incidental double duct sign: Should we be worried? Results from a long-term follow-up study.

Backgrounds/Aims: Double duct sign (DDS) (dilated common bile and pancreatic duct) is synonymous with pancreatic head/peri-ampullary tumor (PHPAT). There is limited evidence on whether incidental DDS (I-DDS) is associated with an increased risk of malignancy. This study aimed to evaluate 5-year outcomes of I-DDS. Methods: Patients were categorized according to their risk of malignancy. 'Low-risk' patients, including those with I-DDS between 2010 and 2015, were analyzed in this study. The primary outcome was incidence of PHPAT within five years of identification of DDS. Histology results from endoscopic ultrasound-guided biopsy were considered diagnostic. Secondary outcomes were incidence of benign causes, extent of follow-up investigations, and clinical indicators of malignancy in patients with DDS. Results: Among 103 patients with DDS, 20 had I-DDS. Subsequent follow-up of these 20 patients found no patient with PHPAT, two (10%) patients with chronic pancreatitis, and 18 (90%) patients with no cause found. The median follow-up duration for 'low-risk' patients was 7.3 years (range, 6-11 years). The mean number of follow-up investigations per patient was two (range, 0-9). Investigations included computed tomography (n = 27), magnetic resonance cholangiopancreatography (n = 23), endoscopy (n = 16), and ultrasound (n = 14). Patients with jaundice were more likely to have malignancy (p < 0.01). Those with abdominal pain were more likely to have a benign cause (p < 0.01). Hyperbilirubinemia and/or deranged liver enzymes and raised CA19-9 were more likely to be associated with PHPAT (p < 0.01). Conclusions: Patients with I-DDS have a low risk of developing PHPAT within five years.

Feasibility and Measurement Value of Pancreatic 2-D Shear Wave Elastography in Healthy Adults: Evaluation, Influencing Factors, Reference Range, Measurement Stability and Reproducibility.

OBJECTIVE: The present study was aimed at assessing the success rate and measurement value, determining the influencing factors and reference range and examining the intra-operator stability and inter-operator reproducibility of pancreatic 2-D shear wave elastography (SWE) measurement in healthy adults. METHODS: In 2022, 387 healthy adults were prospectively recruited. Logistic regression and linear regression analyses were used to explore the factors influencing the success rate and the measurement value of pancreatic 2-D SWE measurement, respectively. A two-sided 95% reference range was estimated accordingly. The intraclass correlation coefficient was calculated to evaluate the intra-operator stability and inter-operator reproducibility of the pancreatic 2-D SWE measurement. RESULTS: The pancreatic body (89.6%) bore the highest while the tail (72.8%) bore the lowest success rate of pancreatic 2-D SWE measurement. Sex and body mass index (BMI) were the independent factors influencing measurement success rate in all three parts of the pancreas. Mean measurement values (Emean) were not the same in the three parts of the pancreas of the same participant. BMI and image depth were the independent factors influencing Emean in the pancreatic body, while region of interest depth and BMI were the only independent factors influencing Emean in the pancreatic head and tail, respectively. The intra-operator stability of pancreatic 2-D SWE measurement was found to be excellent, whereas its inter-operator reproducibility was poor to good. CONCLUSION: Pancreatic 2-D SWE is a reliable technique for evaluating pancreatic stiffness in healthy adults, but its success rate and measurement value are influenced by multiple factors.

Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) represents one of the most common inherited cardiac conditions, and more than 50 % have a tendency of familial aggregation. However, there is a lack of plenty pedigrees to analyze the clinical characteristics. This study collected 1023 unrelated HCM probands, conducted Sanger sequencing on whom carrying MYH7-R143Q and analyzed the clinical data. The detection rate of MYH7-R143Q was 2.54 % (26/1023). In patients with HCM carrying MYH7-R143Q, the diagnosis age is often concentrated in 31-40 years with moderate hypertrophy and fibrosis, which usually concentrate in the anterior and inferior septum of the basal and mid regions, representing moderate risk of SCD. Besides, this variant represented different genetic characteristics, including incomplete penetrance of autosomal dominant inheritance, polygenic cumulative effect and et al. It is the first time to investigate clinical phenotypes in multiple families carrying the same variant locus MYH7-R143Q, providing a theoretical basis for genetic counseling in clinical practice.