WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

WDR26 mutations have recently been linked to Skraban-Deardorff syndrome (SKDEAS). While most WDR26 variants are truncating and are expected to destabilize the protein, the impact of missense variants on protein stability remains unclear. To delineate the clinical and genetic characteristics of SKDEAS and elucidate its underlying pathomechanism, we report two novel WDR26 variants (p.

The spatial and dynamic impact of air pollution on public health: Evidence from China 2000-2021.

China's rapid economic growth and improving quality of life have led to severe air pollution, primarily due to the country's development model. This pollution not only raises public health risks but also shortens life expectancy, drawing significant attention from both the public and the government. This study focuses on 31 provincial-level regions within China, utilizing data collected annually from 2000 to 2021.

The roles of Cryptochrome-1: the circadian clock as a control point in cancer therapy.

In this review, we carefully describe the composition and operation of cryptochrome-1 (CRY1). We introduce four related signaling pathways, namely cAMP/PKA/CREB signaling way, HIFα signaling way, NF-κB signaling way, STAT3 signaling way, FOXO signaling pathway and Hedgehog (HH) signaling pathway. We also emphasize the current understanding of the complex roles CRY1 plays in the progression of various solid tumors.

Application of a multifunctional chemotherapy infusion device for reducing antineoplastic drug extravasation.

Objective: This study aimed to address the challenges associated with antineoplastic drug extravasation during intravenous administration, through the development of a novel chemotherapy infusion device. A secondary objective was to mitigate associated risks to healthcare personnel, patients, caregivers and the environment.

Methods: A water-soluble fluorescent solution was used as a surrogate for antineoplastic chemotherapy agents to assess the potential for drug extravasation and the associated risks of occupational exposure during intravenous administration.

DST regulates cisplatin resistance in colorectal cancer via PI3K/Akt pathway.

Objectives: Dystonin (DST), a potential tumor suppressor gene, plays a crucial role in regulating cancer cell proliferation and resistance to chemotherapy. However, DST's specific role in colorectal cancer (CRC) has not been thoroughly investigated, and this study aims to elucidate its molecular role in modulating cisplatin (DDP) resistance in CRC.

Methods: DST expression was analyzed in CRC tumors, DDP-resistant CRC tissues, paracancer tissues, and normal tissues.

The systemic inflammatory response index is associated with chronic kidney disease in patients with hypertension: data from the national health and nutrition examination study 1999-2018.

Background: Studies have shown that in hypertensive patients, chronic kidney disease (CKD) is associated with a poor prognosis. Inflammation is a highly important factor in the progression of CKD. Detecting systemic inflammation and intervening promptly in patients with hypertension may help reduce the risk of CKD.

[Developmental and epileptic encephalopathy 33 caused by gene mutation: a case report].

A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a heterozygous missense mutation of c.364G>A(p.

[ gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].

This article reports on the clinical and genetic characteristics of monozygotic twins with Marshall-Smith syndrome (MRSHSS) due to a mutation in the gene, along with a review of related literature. Both patients presented with global developmental delays, a prominent forehead, shallow eye sockets, and pectus excavatum. Genetic testing revealed a heterozygous splicing site mutation c.

Role and recent progress of P2Y12 receptor in cancer development.

P2Y12 receptor (P2Y12R) is an adenosine-activated G protein-coupled receptor (GPCR) that plays a central role in platelet function, hemostasis, and thrombosis. P2Y12R activation can promote platelet aggregation and adhesion to cancer cells, promote tumor angiogenesis, and affect the tumor immune microenvironment (TIME) and tumor drug resistance, which is conducive to the progression of cancers. Meanwhile, P2Y12R inhibitors can inhibit this effect, suggesting that P2Y12R may be a potential therapeutic target for cancer.

The efficacy and safety of neoadjuvant chemoradiotherapy combined with immunotherapy for locally advanced rectal cancer patients: a systematic review.

Background: Several studies have explored the effectiveness of PD-1/PD-L1 inhibitors combined with neoadjuvant chemoradiotherapy (nCRT) in the treatment of locally advanced rectal cancer(LARC), particularly in microsatellite stable(MSS) or mismatch repair proficient(pMMR) LARC patients. We undertook a single-arm systematic review to comprehensively evaluate the advantages and potential risks associated with the use of PD-1/PD-L1 inhibitors in conjunction with nCRT for patients diagnosed with locally advanced rectal cancer.

Methods: The PubMed, Embase, Cochrane Library, ClinicalTrials.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Objectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.

Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.

Effect of Missed Post-Procedure Creatinine Measurement on Sub-Acute Kidney Injury Following Coronary Angiography.

Serum creatinine (SCr) levels are essential for the diagnosis of kidney disease after coronary angiography (CAG). However, the influence of missed post-procedure SCr measurement in this situation is unclear. The present study included 14,127 patients undergoing CAG as part of the Cardiorenal ImprovemeNt registry II.

A V-shaped association between high-density lipoprotein cholesterol levels and poor outcomes in patients after percutaneous coronary intervention.

Background: High density lipoprotein cholesterol (HDL-C) is considered as "good cholesterol". Recent evidence suggests that a high HDL-C level may increase the risk of poor outcomes in some populations.

Purpose: To investigate the association between HDL-C levels and poor outcomes in patients after percutaneous coronary intervention (PCI).

Ascorbic acid promoted sulfadimidine degradation in the magnetite-activated persulfate system by facilitating the Fe(III)/Fe(II) cycle.

Persulfate (PS) activation technologies were of significant importance to the organic contaminant treatment. In this study, ascorbic acid (AA) was introduced to the traditional PS-activated process by using magnetite (FeO) as the activator; herein, the degradation efficiency of sulfadimidine (SM2) was improved from 30 to 93% within 3 h, and the observed removal rate was about 8.0 times higher than that of the FeO/PS system.

The predictive value of the neutrophil/platelet ratio on in-hospital adverse events and long-term prognosis in patients with coronary artery disease after percutaneous coronary intervention and its possible internal mechanism.

The neutrophil-to-platelet ratio (NPR) is considered to be an indicator of inflammatory status. The value of the NPR in predicting in-hospital adverse events (AEs) and long-term prognosis after percutaneous coronary intervention (PCI) in coronary artery disease (CAD) patients has not yet been reported. Meanwhile, the mechanisms behind its predictive value for long-term prognosis remain unreported as well.

Empowerment and silence: A grounded theory exploration among new teachers.

Despite the importance of understanding teacher empowerment and silence to help address issues of teacher shortage and well-being and improve school-based consultation, research on the topic has been understudied and undertheorized, particularly for new teachers. To fill this research gap, we carried out a constructivist grounded theory-based qualitative exploration of factors that contribute to new teachers' empowerment and silence during the COVID-19 pandemic among a sample of 24 first-year new teachers from a large and diverse urban school district in northern California. The findings identified different sets of psychological and social-structural factors contributing to new teachers' empowerment and silence, respectively.

Association between the cardiometabolic index and chronic kidney disease: a cross-sectional study.

Background: Central obesity is a risk factor for chronic kidney disease (CKD). However, the exact correlation between the cardiometabolic index (CMI), an indicator of central obesity, and CKD remains unclear. Here, we aimed to investigate the correlation between the CMI and CKD in the general American population.

Adeno-associated virus-mediated gene therapy for rare pediatric neurogenetic diseases: Current status and outlook.

Rare pediatric neurogenetic diseases always have early onset, no specific therapy, high mortality, and pose a severe risk to the health and survival of children. Adeno-associated virus (AAV)-mediated gene therapy, a type of disease-modifying therapy, provides a new option for the treatment of rare pediatric neurogenetic diseases and represents a significant advancement in the field. Currently, the US Food and Drug Administration (FDA) and the European Medicines Association (EMA) have approved AAV-mediated gene therapy medications for treating spinal muscular atrophy, aromatic -amino acid decarboxylase deficiency, and Duchenne muscular dystrophy.

Elevated urine albumin creatinine ratio increases cardiovascular mortality in coronary artery disease patients with or without type 2 diabetes mellitus: a multicenter retrospective study.

Background: Albuminuria has been suggested as an atherosclerotic risk factor among the general population. However, whether this association will be amplified in patients with coronary artery disease (CAD) is unknown. It is also unknown whether diabetes mellitus confounds the association.

Professional support, efficacy beliefs, and compassion fatigue in principals during the COVID-19 pandemic.

Guided by the social cognitive theory and job demands-resources model, we used multiple regression analyses to examine the concurrent and interactive influences of professional support and efficacy beliefs on compassion fatigue during COVID-19 among 231 school principals in California. Controlling for principals' individual- and school-level demographic factors, professional support and their district collective efficacy (but not self-efficacy) were significantly and negatively associated with compassion fatigue. The negative association between professional support and compassion fatigue was moderated by both collective and self-efficacy.

Prognostic value of triglyceride glucose index in population at high cardiovascular disease risk.

Background: Early identification of populations at high cardiovascular disease (CVD) risk and improvement of risk factors can significantly decrease the probability of CVD development and improve outcomes. Insulin resistance (IR) is a CVD risk factor. The triglyceride glucose (TyG) index is a simple and reliable index for evaluating IR.

The aggregate index of systemic inflammation (AISI): a novel predictor for hypertension.

Objective: Inflammation plays an important role in the pathophysiology of hypertension (HTN). Aggregate index of systemic inflammation (AISI), as a new inflammatory and prognostic marker has emerged recently. Our goal was to determine whether there was a relationship between HTN and AISI.