A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient.

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological disorders characterized by predominant sensory dysfunction and attendant severe complications, such as limb destruction. Our study reports a Chinese patient who met the diagnostic criteria for HSAN2 and harbored a homozygous mutation in the WNK1 gene (NM_213655.4: c.

Role of SLC31A1 in prognosis and immune infiltration in breast cancer: a novel insight.

Objective: Copper, an essential metal element for humans, plays vital functions in cancer prognosis and immunity. SLC31A1, a high-affinity copper transporter, helps regulate copper homeostasis and has been implicated in tumor prognosis through mechanisms such as drug resistance, autophagy, ferroptosis, and cuproptosis. However, the role of SLC31A1 in breast cancer (BRCA) and its association with tumor immune infiltration has not been fully elucidated.

Induced dipole moments in amorphous ZnCdS catalysts facilitate photocatalytic H evolution.

Amorphous semiconductors without perfect crystalline lattice structures are usually considered to be unfavorable for photocatalysis due to the presence of enriched trap states and defects. Here we demonstrate that breaking long-range atomic order in an amorphous ZnCdS photocatalyst can induce dipole moments and generate strong electric fields within the particles which facilitates charge separation and transfer. Loading 1 wt.

Preclinical evidence of reno-protective effect of quercetin on acute kidney injury: a meta-analysis of animal studies.

This study evaluated the reno-protective effects of quercetin in animal models of acute kidney injury (AKI). We conducted a systematic search of literature published before April 2023 in PubMed, Web of Science, and EMBASE databases. Methodological quality was assessed by SYRCLE's RoB tool.

Dose-related effects of norepinephrine on early-stage endotoxemic shock in a swine model.

Background: The benefits of early use of norepinephrine in endotoxemic shock remain unknown. We aimed to elucidate the effects of different doses of norepinephrine in early-stage endotoxemic shock using a clinically relevant large animal model.

Methods: Vasodilatory shock was induced by endotoxin bolus in 30 Bama suckling pigs.

Imperfect makes perfect: defect engineering of photoelectrodes towards efficient photoelectrochemical water splitting.

Photoelectrochemical (PEC) water splitting for hydrogen evolution has been considered as a promising technology to solve the energy and environmental issues. However, the solar-to-hydrogen (STH) conversion efficiencies of current PEC systems are far from meeting the commercial demand (10%) due to the lack of efficient photoelectrode materials. The recent rapid development of defect engineering of photoelectrodes has significantly improved the PEC performance, which is expected to break through the bottleneck of low STH efficiency.

Understanding Acute Respiratory Distress Syndrome in High-Altitude Environments: A Comprehensive Review of Diagnosis and Treatment.

Approximately 2% of the global population lives above 1500 m, where low atmospheric pressure, decreased oxygen levels, harsh cold and dry conditions, strong radiation, and the effects of climate change present significant health challenges. Residents of these high-altitude areas display physiological adaptions, including smaller body size, enlarged ribs, improved oxygen delivery in hypoxic conditions, and adjustments in oxygen utilization and metabolism. Both acute and chronic hypoxia prevalent in such regions can trigger various diseases by stimulating hypoxia-inducible factors, boosting inflammatory responses, and impairing mitochondrial function.

Integrated analysis of clinical and genetic factors on the interindividual variation of warfarin anticoagulation efficacy in clinical practice.

Aim: The anticoagulation effect of warfarin is usually evaluated by percentage of time in therapeutic range (PTTR), which is negatively correlated with the risk of warfarin adverse reactions. This study aimed to explore the effects of genetic and nongenetic factors on anticoagulation efficacy of warfarin during different therapeutic range.

Methods: We conducted an observational retrospective study aiming at evaluating the impact of clinical and genetic factors on PTTR from initial to more than six months treatment.

Association of Sublingual Microcirculation Parameters and Capillary Refill Time in the Early Phase of ICU Admission.

Objectives: This observational study was conducted to investigate capillary refill time (CRT) during the early phase of ICU admission in relationship with microvascular flow alteration and outcome in critically ill patients.

Design: Prospective, observational, pilot study.

Setting: ICU in a university hospital.

The mechanism and treatment of targeted anti-tumour drugs induced cardiotoxicity.

As the intensive anti-tumour therapy and combination of multiple anti-tumour drugs, cardiotoxicity events caused by anti-tumour drugs have also increased significantly, and the incidence of cardiotoxicity also increased with survival time. Different types of anti-tumour drugs could cause all kinds of cardiotoxicity which increase the difficulties in treatment and even live threatening. In this review, we concentrated in the targeted anti-tumour drugs such as human epidermal growth factor receptor-2 (HER2) inhibitors, tyrosine kinase inhibitors (TKIs), immune checkpoint inhibitors (ICIs), and proteasome inhibitors (Pls).

[Dead space fraction for treatment guidance and prognosis evaluation of acute respiratory distress syndrome].

Acute respiratory distress syndrome (ARDS) is a common cause of critical illness and high mortality from respiratory failure. Increased dead space fraction (VD/VT) was independently associated with lung injury and mortality of ARDS. VD/VT is readily obtained by bedside measurements of arterial blood gas and end-tidal carbon dioxide.

Effects of apolipoprotein E on regulating insulin sensitivity via regulating insulin receptor signalosome in caveolae.

Aims: Although impaired insulin signaling at a post-receptor level was a well-established key driver of insulin resistance, the role of surface abnormal insulin receptor (INSR) location in insulin resistance pathogenesis tended to be ignored and its molecular mechanisms remained obscure. Herein, this study aimed to investigate hepatic apolipoprotein E (APOE) impaired cellular insulin action via reducing cell surface INSR, especially in caveolae.

Key Findings: Downregulation of APOE enhanced the caveolae translocation of INSR and glucose transporter 2 (GLUT2), and improved hepatic cells' sensitivity to insulin.

Association of Thiamine Use with Outcomes in Patients with Sepsis and Alcohol Use Disorder: An Analysis of the MIMIC-III Database.

Introduction: The association between thiamine use and clinical outcomes among patients with sepsis and alcohol use disorder (AUD) is unclear.

Methods: In this retrospective cohort study of patients from Medical Information Mart for Intensive Care III (MIMIC-III, version 1.4), we evaluated the association of thiamine use with clinical outcomes in patients with AUD and sepsis.

[Microcirculation characteristics and humoral factors of healthy people from different populations at high altitude (4 100 m)].

The present study was aimed to observe the characteristics of sublingual microcirculation and the changes of humoral factors in healthy people of three different high altitude populations. Three groups of healthy subjects in Guoluo area of Qinghai province (4 100 m) were included: Tibetan group: 30 Tibetans, (45.62 ± 10.

Corrigendum: Chrysophanol Relieves Cisplatin-Induced Nephrotoxicity Concomitant Inhibition of Oxidative Stress, Apoptosis, and Inflammation.

[This corrects the article DOI: 10.3389/fphys.2021.

Chrysophanol Relieves Cisplatin-Induced Nephrotoxicity Concomitant Inhibition of Oxidative Stress, Apoptosis, and Inflammation.

Cisplatin (CDDP) is one of the most frequently prescribed chemotherapy medications. However, its nephrotoxicity which often leads to acute kidney injury (AKI), greatly limits its clinical application. Chrysophanol (CHR), a mainly active anthraquinone ingredient, possesses various biological and pharmacological activities.

Effect of NPC1L1 polymorphism on warfarin stable dose in Chinese patients under heart valve replacement surgery.

Warfarin is the most often anticoagulant choice for preventable thromboembolism. Notably, vitamin K plays a vital role in the process of warfarin's anticoagulant effect. Therefore, we presume NPC1L1, a key transporter of vitamin K (VK) intestinal absorption, may modulate the anticoagulant effect of warfarin.

Case series of COVID-19 patients from the Qinghai-Tibetan Plateau Area in China.

Background: Coronavirus disease 2019 (COVID-19) is a serious infection caused by the new coronavirus severe acute respiratory syndrome coronavirus 2. The disease was first identified in December 2019 and has caused significant morbidity and mortality worldwide.

Aim: To explore the clinical characteristics and treatments for COVID-19 in the Qinghai-Tibetan Plateau Area in China.

Conjugated linoleic acid prompts bone formation in ovariectomized osteoporotic rats and weakens osteoclast formation after treatment with ultraviolet B.

Background: Ultraviolet B (UVB) has been reported to prevent bone loss by promoting the synthesis of vitamin D. However, UVB can also enhance osteoclastic differentiation, inhibit osteogenic differentiation, and cause oxidative damage. The present study aimed to analyze the osteoprotective effects of UVB and conjugated linoleic acid (CLA) in rats with ovariectomy-induced osteoporosis, and to determine the interactions between UVB and CLA and their effects on bone mesenchymal stem cells (BMSCs) and bone marrow mononuclear cells (BMMCs).

[Continuous prone position ventilation in patients with severe acute respiratory distress syndrome at high altitude].

Objective: To investigate the therapeutic effect of different prone position ventilation (PPV) on patients with severe acute respiratory distress syndrome (ARDS) at high altitude.

Methods: The severe ARDS patients who met the Berlin standard admitted to the department of intensive care unit (ICU) of Qinghai Provincial People's Hospital from January 2017 to January 2020 were enrolled. The patients with classic PPV treatment (i.

P(v-a)CO2/C(a-v)O2-directed resuscitation does not improve prognosis compared with SvO2 in severe sepsis and septic shock: A prospective multicenter randomized controlled clinical study.

Purposes: The present study examined the value of P(v-a)CO2/C(a-v)O2 compared with ScvO2 as a target for clinical resuscitation of severe sepsis/septic shock.

Materials And Methods: 228 patients were randomly divided into a P(v-a)CO2/C(a-v)O2-targeted and a ScvO2-targeted therapy group. The effects on hemodynamics, interventional intensity, and outcome were recorded and analyzed.

The plasma level changes of VEGF and soluble VEGF receptor-1 are associated with high-altitude pulmonary edema.

Hypoxia-induced plasma levels of VEGF and sFlt-1 are responsible for increased vascular permeability occurred in both brain and pulmonary edema. Currently, it remains unclear the exact roles of VEGF and sFlt-1 in High Altitude Pulmonary Edema (HAPE) pathogenesis. In this study, plasma levels of VEGF and sFlt-1 from 10 HAPE and 10 non-HAPE subjects were measured and compared.

Clinicopathological and molecular characteristics of synchronous gastric adenocarcinoma and gastrointestinal stromal tumors.

Synchronous gastric tumors that consist of both gastrointestinal stromal tumor (GIST) and adenocarcinoma are rare. We studied the clinicopathological and molecular characteristics of six cases containing both gastric adenocarcinoma and GIST. By means of immunohistochemical analysis, all GIST cells expressed CD117, CD34 and Dog1 in all six synchronous gastric adenocarcinomas with GIST, and in GIST alone.

[Effect of high altitude hypoxia on fetal development during pregnancy and the reason analysis].

High altitude hypoxia is an important factor to affect fetal development during pregnancy. In the special environment, maternal physiological functions are regulated to maintain the maternal and fetal homeostasis, so that limited oxygen is to meet the needs of fetal growth and development. In this review, the literatures about the effects of hypoxic environment on fetal development during pregnancy in recent years were summarized, in which the fetal growth characteristics, maternal physiological regulation, genetic and placental influencing factors in high altitude areas were involved.