Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.

Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.

Suppression of TGA2-Mediated Salicylic Acid Defence by Tomato Yellow Leaf Curl Virus C2 via Disruption of TCP7-Like Transcription Factor Activity in Tobacco.

Tomato yellow leaf curl virus (TYLCV) is a significant threat to tomato cultivation globally, transmitted exclusively by the whitefly Bemisia tabaci. While previous research suggests that the TYLCV C2 protein plays a role in fostering mutualistic interactions between the virus and its insect vectors, the specific mechanisms remain unclear. In this study, we show that the C2 protein interferes with the salicylic acid (SA) defence pathway by disrupting TCP7-like transcription factor-mediated regulation of TGA2 expression.

Amplifying Electron-Donor Signal of the "Water Gate" Enabled Low Detection Ability of a Field-Effect Transistor-Based Humidity Sensor.

Low humidity detection down to the parts per million level is urgently demanded in various industrial applications. The hardly detected tiny electrical signal variations caused by a very small amount of water adsorption are one of the intrinsic reasons that restrain the detection limit of the humidity sensors. Herein, a carbon-based field-effect transistor (FET) humidity sensor utilizing adsorbed water as the dual function of a sensing gate and analyte was proposed.

Formulation and clinical evaluation of hyaluronic acid nanogel in treatment of tear trough: Nano-flipping from injectable fillers to topical nanofillers.

Tear trough deformity (TTD) is a significant cosmetic concern, with current treatments relying primarily on invasive injectable fillers, which are costly and carry risks of complications. Despite the widespread use of hyaluronic acid (HA) in cosmetic applications, its poor dermal permeation has limited the development of effective topical fillers for TTD.This study aim to develop and evaluate a novel hyaluronic acid nanogel (nanofiller, NF) as a non-invasive topical filler for TTD.

A Novel Polymersome Nanocarrier Promotes Anti-Tumour Immunity by Improved Priming of CD8 T Cells.

Cancer is one of the leading causes of death worldwide. In recent years, immune checkpoint inhibitor therapies, in addition to standard immuno- or chemotherapy and surgical approaches, have massively improved the outcome for cancer patients. However, these therapies have their limitations and improved strategies, including access to reliable cancer vaccines, are needed.

Anticancer Attributes and Multifaceted Pharmacological Implications of Laetrile and Amygdalin.

Laetrile, known as vitamin B17, is often used interchangeably with amygdalin. Laetrile is a semi-synthesis product of amygdalin, whereas amygdalin is a naturally occurring substance in many plants. Both compounds have a nitrile functional group that, when activated by the intestinal enzyme β-glucosidases, releases hydrogen cyanide.

Investigating the influence of blood meal sources on the composition of culturable haemolytic gut bacteria of a wild-caught BTV vector Culicoides oxystoma Kieffer (Diptera: Ceratopogonidae).

Culicoides oxystoma Kieffer (Diptera: Ceratopogonidae) transmits many pathogens, including seven viruses, four protozoa and one nematode. This species has a wide distribution range across northern Afro-tropical, Palearctic, Australian, Indo-Malayan realms with a broad host spectrum, including cattle, buffaloes, sheep, pigs, dogs, horses and even humans. The heterogeneous nature of Culicoides' blood-feeding patterns is well documented, but the influence of various host blood meal sources on gut bacterial composition remains scant.

Understanding hepcidin for iron management in pregnancy.

Iron deficiency anaemia (IDA) poses a significant health challenge during pregnancy, affecting up to 30% of pregnant women in the UK. It has been linked to poor health outcomes for the mother, foetus, and the infant. Despite its prevalence and impact, current diagnostic and therapeutic approaches are limited.

Gestational trophoblastic disease: understanding the molecular mechanisms of placental tumours.

Gestational trophoblastic disease (GTD) describes a group of rare benign and cancerous lesions originating from the trophoblast cells of the placenta. These neoplasms are unconventional entities, being one of the few instances in which cancer develops from the cells of another organism, the foetus. Although this condition was first described over 100 years ago, the specific genetic and non-genetic drivers of this disease remain unknown to this day.

"Tension Chyle Leak": A Life-Threatening Sequela of Thoracic Duct Injury Following Resection of BRAF-Mutated Anaplastic Thyroid Carcinoma.

Background: Airway obstruction secondary to chyle leak is an exceptionally rare phenomenon. Here, we describe this complication in a patient with anaplastic thyroid carcinoma (ATC) undergoing consolidative surgery after BRAF-targeted therapy.

Methods: A 55-year-old man presented with a rapidly enlarging neck mass.

Short- and Long-Term Outcomes of Patients Who Underwent the Arterial Switch Operation at Siriraj Hospital-Thailand's Largest National Tertiary Referral Center.

Objective: The aim of this study was to assess the short- and long-term outcomes of patients who underwent the arterial switch operation (ASO) at Siriraj Hospital in Thailand, and to identify postoperative complications and factors that significantly affect patient survival.

Materials And Methods: We retrospectively studied all patients with dextro-transposition of the great arteries and anatomic variants who underwent the ASO from January 1995 to December 2020. Twenty-year overall survival and 15-year freedom from reoperation/reintervention were estimated using the Kaplan-Meier method.

ERMP1 as a newly identified ER stress gatekeeper in chronic kidney disease.

ERMP1 is involved in the Unfolded Protein Response (UPR) pathway in response to endoplasmic reticulum (ER) stress. Given the pivotal role of ER stress in the pathogenesis of acute and chronic kidney diseases, we hypothesized that ERMP1 could be instrumental in the development of renal injury. analysis of RNA sequencing datasets from renal biopsies were exploited to assess the expression of ERMP1 in the kidney under normal or pathological conditions.

PagSND1-B1 Regulates Wood Formation by Influencing Phosphorus Absorption and Distribution in Poplar.

In natural environments, the growth and development of trees are continuously affected by phosphorus (P) starvation stress. However, the mechanisms through which trees balance stem growth and P distribution remain unknown. This study found that in the woody model species poplar, the P loss in stems is more severe than that in roots and leaves under P starvation conditions, thereby inhibiting stem development and reducing the expression of numerous genes related to wood formation, including PagSND1-B1.

Efficacy and Safety of Different Acupuncture Treatments for Cancer-Related Pain: A Systematic Review and Network Meta-Analysis.

Background: Cancer pain is a prevalent and persistent issue, and while there have been some observations of the possible benefits of acupuncture in managing cancer pain, there is still debate regarding its safety and effectiveness. This study aims to compare the efficacy and safety of different acupuncture modalities in the treatment of cancer pain through a network meta-analysis.

Methods: Between the time each database was created and June 3, 2024, eight databases were queried: PubMed, Cochrane, Embase, Web of Science, CNKI, Wanfang, VIP, and China Biomedicine.

Vaccinating Adolescents With Intellectual and Developmental Disability at School: An Opportunity to Promote Supported Decision Making.

Internationally, vaccination rates among adolescents with intellectual and developmental disability (IDD) are lower than those of the general population. Little research has addressed this issue. This study investigates the experiences of vaccinating adolescents with IDD in special education settings in Australia, with a focus on student engagement.

Exploring the congruence between perceived parent-teacher achievement goals and student academic outcomes: A study using polynomial regression with response surface analysis.

Background: The achievement goals set by parents and teachers play a crucial role in shaping students' personal goal orientation and academic performance. Previous studies have revealed discrepancies between achievement goals set by parents and teachers. However, limited research has examined how the congruence of perceived parents' and teachers' achievement goals is associated with students' academic performance.

Advance care planning intervention in chronic kidney care: A qualitative evaluation.

Background: Patients with chronic kidney disease and their families request early and continuous advance care planning. Based on user involvement, an advance care planning intervention was developed to support patients, family members and healthcare professionals (HCPs) in advance care planning conversations in a nephrology outpatient setting.

Objective: To explore the experiences and perceptions of an advance care planning intervention among patients with chronic kidney disease, family members and healthcare professionals.

Evaluating the accuracy of impaired skin integrity in critically ill patients: Key characteristics and clinical implications.

Objective: To evaluate the accuracy of the defining characteristics of the nursing diagnosis Impaired skin integrity (00046) in patients admitted to intensive care units (ICUs).

Methods: A cross-sectional diagnostic accuracy study was conducted with 105 adult patients admitted to an ICU. A latent class model with random effects was used to test the sensitivity and specificity of the defining characteristics investigated.

Early differential diagnosis of cystic biliary atresia and choledochal cyst in the fetus: A multicenter retrospective study.

Background/purpose: Fetal hilar cyst is primarily diagnosed as two diseases after birth, cystic biliary atresia (CBA) and choledochal cyst (CC). The aim of our study was to explore more reliable indicators in early differential diagnosis of these cysts.

Methods: We recruited a total of 50 cases with a prenatal diagnosis of hepatic cyst at three centers, and patients were divided into a CBA group (n = 16) and CC group (n = 34) according to postnatal intraoperative diagnosis.

Glycan-Matchmade Multivalent Decoration of Enzyme Labels for Amplified Electrochemical Detection of Glycoproteins.

Glycoproteins are of significant value to liquid biopsy of human diseases. Herein, we present a universal electrochemical platform for the amplified detection of glycoproteins, taking advantage of the glycan-matchmade multivalent decoration of enzyme labels for the enzymatic signal amplification. Briefly, the glycan-matchmade multivalent decoration involves two steps, i.

Multidimensional characterization of craniofacial skeletal phenotype of obstructive sleep apnea in adults.

Objectives: We aimed to characterize a craniofacial skeletal phenotype (CSP) of adult obstructive sleep apnea (OSA) patients from a multidimensional perspective, exploring the impact of transverse skeletal discrepancy (TSD) on multivariable polysomnographic profiles.

Materials And Methods: This retrospective, cross-sectional study included 102 adult OSA patients. Sagittal, vertical, and transverse skeletal patterns were categorized on the cone beam computed tomography images.

H. Wendl Leaf Metabolites Potentiate the Radiosensitivity of Hepatocellular Carcinoma Through Ki67 and PARP Inhibition.

Objectives: Hepatocellular carcinoma (HCC) represents the third-most prevalent cancer in humans worldwide. The current study's objective is to search for the potentiality of H. Wendl () leaf extract in a nanoemulsion (NE) form in enhancing radiotherapy against HCC induced in rats using diethylnitrosamine (DEN).