Progressive osseous heteroplasia in a five-month-old boy with a mutation in exon 9 of : a case report.

Progressive osseous heteroplasia (POH) is an ultrarare hereditary disease that begins with cutaneous ossification, and progressive heterotopic ossification involves subcutaneous and deep connective tissues. We reported a case of POH in a five-month-old boy with clinical, pathological, and genetic features of POH. Most POH cases are caused by GNAS inactivating mutations, and the mutation of GNAS is also found in some other related heterotopic ossification conditions.

Right ventricular volume and function by three-dimensional echocardiography: results of the echocardiographic measurements in normal Chinese adults (EMINCA) II.

Three-dimensional (3D) echocardiography is an emerging technique for assessing right ventricular (RV) volume and function, but 3D-RV normal values from a large Chinese population are still lacking. The aim of the present study was to establish normal values of 3D-RV volume and function in healthy Chinese volunteers. A total of 1117 Han Chinese volunteers from 28 laboratories in 20 provinces of China were enrolled, and 3D-RV images of 747 volunteers with optimal image quality were ultimately analyzed by a core laboratory.

A Practical Tool for Measuring Home-Based Cardiac Rehabilitation Self-Management Behavior: A Multiphase Cross-Sectional Study.

Background: Optimal self-management is the key to home-based cardiac rehabilitation for patients with heart disease. At present, there is a lack of a specific assessment tool to evaluate the home-based cardiac rehabilitation self-management behavior in patients with heart disease. Therefore, the aim of this study was to develop the Home-Based Cardiac Rehabilitation Self-Management Scale and validate its psychometric properties among patients with coronary heart disease.

Duration of Remote Ischemic Conditioning and Outcome in Acute Ischemic Stroke.

Background: Remote ischemic conditioning has been found to be effective in improving functional outcomes in acute ischemic stroke. We conducted a post hoc analysis of the RICAMIS (Remote Ischemic Conditioning for Acute Moderate Ischemic Stroke) trial to determine whether long-term remote ischemic conditioning duration after stroke onset is associated with better clinical outcomes in ischemic stroke.

Methods And Results: Patients from the full analysis set were included in this secondary analysis.

A pilot trial of neoadjuvant pyrotinib plus trastuzumab, dalpiciclib, and letrozole for triple-positive breast cancer.

Triple-positive breast cancer (TPBC) poorly responds to current standard neoadjuvant therapy (trastuzumab plus pertuzumab and chemotherapy). Our previous MUKDEN 01 study showed a promising total pathological complete response (tpCR) rate of 30.4% with neoadjuvant pyrotinib (pan-human epidermal growth factor receptor tyrosine kinase inhibitor) plus dalpiciclib (cyclin-dependent kinase 4/6 inhibitor) and letrozole, but the efficacy remains suboptimal.

Role of 2-day critical ultrasound training curriculum in guiding clinical activities in China.

Background: The effectiveness of critical care ultrasound has been demonstrated and training for it is urgent. Critical Care Ultrasound Study Group (CCUSG) has been dedicated to ultrasound training. The aim of the study was to evaluate course structure and training effect and provide improvement suggestions for future training.

Association between HMGB1 genetic variants and ischemic stroke susceptibility, onset age, and recurrence risk among Chinese Han individuals.

Objectives: Ischemic stroke has long been a global health threat. Genetic factors, a looming risk for ischemic stroke, remain unexplored. The high-mobility group box 1 (HMGB1) protein showed a connection with the occurrence and development of ischemic stroke.

The relationship between round window and ear canal Cochlear microphonic.

Hypothesis: Cochlear microphonic recorded at ear canal (CM-EC) can be a substitute for the one recorded at round window (CM-RW).

Background: Almost all clinics do not measure tone-burst evoked CM due to technical difficulty although it can provide more information than click evoked CM. Moreover, clinicians like the CM-EC more than that measured at CM-RW because CM-EC is non-invasive.

IFN-γ promotes the development of systemic lupus erythematosus through the IFNGR1/2-PSTAT1-TBX21 signaling axis.

Background: Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in cartilage and the lining of blood vessels. Emerging evidence implicates IFN-γ as a major effector molecule in SLE during both active and stable stages. Here, we investigated the effects of IFN-γ on cytokines that play an autoimmune disease-promoting role and Th1-versus-Th2 and B cell dualism in SLE patients and mouse models of SLE.

Graphene-based strain sensor with sandwich structure and its application in bowel sounds monitoring.

Surgery is one of the primary treatment modalities for gastrointestinal tumors but can lead to postoperative ileus (POI), which can aggravate pain and increase costs. The incidence of POI can be effectively reduced by monitoring bowel sounds to assist doctors in deciding the timing of transoral feeding. In this study, we prepared a flexible strain sensor based on a graphene composite material and tested the feasibility of sensor monitoring of bowel sounds using simultaneous stethoscope and sensor monitoring.

Small molecule inhibitors targeting the cancers.

Compared with traditional therapies, targeted therapy has merits in selectivity, efficacy, and tolerability. Small molecule inhibitors are one of the primary targeted therapies for cancer. Due to their advantages in a wide range of targets, convenient medication, and the ability to penetrate into the central nervous system, many efforts have been devoted to developing more small molecule inhibitors.

Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Background Ischemic stroke is likely caused by interactions of multiple genes and environmental determinants. However, large-scale sequencing studies to discern functional genetic variants and their interactions with clinical and lifestyle risk factors on ischemic stroke are limited. Methods and Results We sequenced functional regions of 740 previously identified genes associated with atherosclerotic disease among 999 ischemic stroke cases and 1001 controls of Chinese ancestry.

COVID-19 metabolism: Mechanisms and therapeutic targets.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) dysregulates antiviral signaling, immune response, and cell metabolism in human body. Viral genome and proteins hijack host metabolic network to support viral biogenesis and propagation. However, the regulatory mechanism of SARS-CoV-2-induced metabolic dysfunction has not been elucidated until recently.

Analysis of alterations of serum inflammatory cytokines and fibrosis makers in patients with essential hypertension and left ventricular hypertrophy and the risk factors.

Objective: This study mainly analyzed the alterations of serum inflammatory cytokines (ICs) and fibrosis makers in patients with essential hypertension (EH) and the risk factors (RFs).

Methods: In this retrospective study, a total of 145 patients with EH admitted from January 2013 to January 2018 were selected as the research subjects, among which 89 patients without left ventricular hypertrophy (LVH) were included in the EH group and 56 patients with LVH were set as the LVH group. In addition, another 50 healthy subjects who underwent physical examination during the same period were selected as the healthy control (HC) group.

MiR-200c-3p affects cochlear hair cells damaged by oxidative stress via modulating Taok1 expression.

Objective: The aim of this study was to elucidate the role of miR-200c-3p in cochlear hair cells injured by oxidative stress (OS) and the underlying mechanisms.

Methods: The OS injury model of HEI-OC1 cells was induced by 100 μmol/L tert-butyl hydroperoxide (t-BHP). The expression of miR-200c-3p in HEI-OC1 was detected by RT-PCR, the levels of glutathione peroxidase (GSH-Px), superoxide dismutase (SOD), Catalase (CAT), and malondialdehyde (MDA) were determined with ELISA, and the expression levels of Taok1 and apoptosis-related proteins were measured by Western Blot.

Construction of a ceRNA network in hepatocellular carcinoma and comprehensive analysis of immune infiltration patterns.

Background: Hepatocellular carcinoma (HCC) is a type of refractory malignant tumor with high fatality rate. Currently, immunotherapy and competitive endogenous RNA (ceRNA) are research hotspots in HCC, but the relationship between ceRNA and the immune microenvironment in HCC is unclear.

Methods: Firstly, a differentially expressed circRNA-miRNA-mRNA network was constructed from the GEO database, and functional enrichment analysis was performed.

Comprehensive expectoration nursing in elderly patients with pulmonary infection and its influence on respiratory function.

Objective: To investigate the effect of comprehensive expectoration nursing in elderly patients with pulmonary infection and its influence on respiratory function.

Methods: Clinical data of 88 elderly patients with pulmonary infection treated in our hospital from March 2018 to May 2020 were analyzed retrospectively. During treatment, 40 patients receiving conventional nursing mode were included in the control group (CG), and 48 with comprehensive expectoration nursing were included in the observation group (OG).

Bone marrow mesenchymal stem cell-conditioned medium facilitates fluid resolution via miR-214-activating epithelial sodium channels.

Acute lung injury (ALI) is featured with severe lung edema at the early exudative phase, resulting from the imbalance of alveolar fluid turnover and clearance. Mesenchymal stem cells (MSCs) belong to multipotent stem cells, which have shown potential therapeutic effects during ALI. Of note, MSC-conditioned medium (MSC-CM) improved alveolar fluid clearance (AFC) in vivo, whereas the involvement of miRNAs is seldom known.

First report of rheumatoid arthritis and secondary Sjögren's syndrome complicated with heart failure.

A 70-year-old woman with rheumatoid arthritis for 45 years developed secondary Sjögren's syndrome. She had a long-term low-salt and low-fat diet and did not adhere to long-term hormone and rheumatic immunotherapy, which led to heart failure.

GWAS-linked hot loci predict short-term functional outcome and recurrence of ischemic stroke in Chinese population.

In the past decade, an increasing number of genome-wide association studies (GWASs) have been applied to ischemic stroke (IS) susceptibility and recovery. In our study, six GWAS-linked hot loci ( rs10744777, rs2107595, rs532436, rs76221407, rs1842681 and rs2236406) were selected, genotyped and analyzed in 982 IS patients from northern Chinese population, in order to explore their roles in stroke functional outcome and recurrence risk. We found that rs2236406 was significantly associated with functional outcome after stroke.

WISP1 indicates poor prognosis and regulates cell proliferation and apoptosis in gastric cancer via targeting AKT/mTOR signaling pathway.

Purpose: Gastric cancer (GC) is a serious threat to human health. We aimed to explore the effects of Wnt1 induced signaling protein 1 (WISP1) on GC.

Methods: The WISP1 expressions in GC tissues were detected using immunohistochemistry and qRT-PCR.

Long-term exposure to low-intensity environmental noise aggravates age-related hearing loss via disruption of cochlear ribbon synapses.

Noise pollution is a major public hazard. Previous studies have shown that environmental noise affects the reorganization of the auditory cortex and leads to behavioral abnormality; however, the effects of long-term environmental noise exposure on the inner ear and hearing remain to be elucidated. In this study, we simulated environmental noise with a long-term 70 dB sound pressure level "white" noise, observed its effect on the inner ears of C57BL/6J mice, and developed an model for mechanistic studies.

Palatine tonsillar metastasis of lung adenocarcinoma: an unusual immunohistochemical phenotype and a potential diagnostic pitfall.

Metastasis rarely occurs to the palatine tonsils. Herein, we present an exceedingly rare case of palatine tonsillar metastasis from poorly differentiated lung adenocarcinoma with anaplastic lymphoma kinase (ALK) mutation in a 51-year-old woman. The patient manifested clinically as pharyngalgia without obvious respiratory symptoms, with swelling tonsil histomorphologically resembling lymphoma and partially expressing the markers of epithelial and squamous cell carcinoma (CK5/6, P63, and P40).