Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.

: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the or genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes.

The efficacy of lavender oil on fatigue and sleep quality in patients with hematological malignancy receiving chemotherapy: a single-blind randomized controlled trial.

Purpose: The aim of this study is to evaluate how aromatherapy with the inhalation of lavender oil affects fatigue and sleep quality in patients with hematological malignancies undergoing chemotherapy.

Methods: This randomized, parallel-group study was carried out in the Adult Bone Marrow Transplant unit and Hematology-Oncology clinics between January 2022 and April 2023. A total of 120 patients were assigned to experimental and control groups by randomization.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.

: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cytoplasm. The initial presentation and time of diagnosis in HHH highly varies.

Evaluation of potential links between phenotypic features and genetic variants in left ventricular outflow tract obstruction in hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.

This study aimed to identify the phenotypic features contributing to the development of left ventricular outflow tract obstruction (LVOTO) in patients with hypertrophic cardiomyopathy (HCM) and to evaluate the genotype‒phenotype relationship. This cross-sectional study included 96 patients diagnosed with HCM (mean age: 56.9 ± 13.

Flow-field inference from neural data using deep recurrent networks.

Computations involved in processes such as decision-making, working memory, and motor control are thought to emerge from the dynamics governing the collective activity of neurons in large populations. But the estimation of these dynamics remains a significant challenge. Here we introduce Flow-field Inference from Neural Data using deep Recurrent networks (FINDR), an unsupervised deep learning method that can infer low-dimensional nonlinear stochastic dynamics underlying neural population activity.

Differential expression of mRNA 3'-end isoforms in cervical and ovarian cancers.

Early diagnosis and therapeutic targeting are continuing challenges for gynecological cancers. Here, we focus on cancer transcriptomes and describe the differential expression of 3'UTR isoforms in patients using an algorithm to detect differential poly(A) site usage. We find primarily 3'UTR shortening cases in cervical cancers compared with the normal cervix.

Molecular Characterization of HER2-Low Invasive Breast Carcinoma by Quantitative RT-PCR Using Oncotype DX Assay.

Background: HER2 immunohistochemistry (IHC) reproducibility is suboptimal for HER-low cases (IHC 1+ or 2+).

Methods: The Yale cohort included 214 stages I-II estrogen receptor positive breast cancers with IHC scores 0, 1+, and 2+ and routine Oncotype DX Recurrence Score (RS) results. The Exact Sciences (ES) cohort included 9 57 624 patients who had an Oncotype DX RS assay that assigns HER2-negative, equivocal, or positive status based on HER2 mRNA levels.

Characteristics and seasonal variation of microplastics in the wastewater treatment plant: The case of Bursa deep sea discharge.

Microplastics (MPs) are an emerging pollutant that can be detected in all ecosystems, especially aquatic ecosystems. Wastewater treatment plants (WWTPs) are important point sources of MP release into the sea. In this study, the characteristics of MPs in wastewater and sludge samples taken from different units of WWTP in Bursa-Gemlik district for 12 months were investigated.

Serum fetuin-A and RANKL levels in patients with early stage breast cancer.

Background: Breast cancer (BC) is the primary cause of mortality due to cancer in females around the world. Fetuin-A is known to increase metastases over signals and peroxisomes related with growing. Receptor activator of nuclear factor-kB ligand (RANKL) takes part in cell adhesion, and RANKL inhibition is used in the management of cancer.

Improved Electrical Properties of EHD Jet-Patterned MoS Thin-Film Transistors with Printed Ag Electrodes on a High-k Dielectric.

Electrohydrodynamic (EHD) jet printing is known as a versatile method to print a wide viscosity range of materials that are impossible to print by conventional inkjet printing. Hence, with the understanding of the benefits of EHD jet printing, solution-based MoS and a high-viscosity Ag paste were EHD jet-printed for electronic applications in this work. In particular, printed MoS TFTs with a patterned Ag source and drain were successfully fabricated with low-k silica (SiO) and high-k alumina (AlO) gate dielectrics, respectively.

Stacked printed MoS and Ag electrodes using electrohydrodynamic jet printing for thin-film transistors.

Transition metal dichalcogenide-based thin-film transistors (TFTs) have drawn intense research attention, but they suffer from high cost of materials and complex methods. Directly printed transistors have been in the limelight due to low cost and an environmentally friendly technique. An electrohydrodynamic (EHD) jet printing technique was employed to pattern both MoS active layer and Ag source and drain (S/D) electrodes.

Theory of Gating in Recurrent Neural Networks.

Recurrent neural networks (RNNs) are powerful dynamical models, widely used in machine learning (ML) and neuroscience. Prior theoretical work has focused on RNNs with additive interactions. However gating i.

A Rare Complication of The Heart Rate Strap Use in A Marathon Runner: Mondor's Disease of the Breast.

This is the first case report of Mondor's disease diagnosed in a marathon runner developed due to tight heart rate strap. A 41-year female marathon runner was admitted to the hospital with a cord-like soft tissue swelling under her breast, which was confirmed by physical examination. She had a history of severe exercise; during which, she used a sports watch with a heart rate strap that she tightened under her bra.

Surgical mitral valve repair technique considerations based on the available evidence.

Mitral valve regurgitation is the second most common valve disease in the western world. Surgery is currently the best tool for generating a long-lasting elimination of mitral valve regurgitation. However, the mitral valve apparatus is a complex anatomical and functional structure, and repair results and durability show substantial heterogeneity.

Abundance and characteristics of microplastics in an urban wastewater treatment plant in Turkey.

Wastewater treatment plants (WWTPs) are considered one of the important sources of aquatic/terrestrial microplastic (MP) pollution. Therefore, the abundance and properties of MPs in the wastewater and sludge of an urban WWTP in Bursa Turkey were investigated. The amount, properties, and removal of MPs were evaluated.

Cardiac Surgery 2021 Reviewed.

PubMed displayed more than 35,000 hits for the search term "cardiac surgery AND 2021." We used the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) approach and selected relevant publications for a results-oriented summary. As in recent years, we reviewed the fields of coronary and conventional valve surgery and their overlap with their interventional alternatives.

Targeting HIF1-alpha/miR-326/ITGA5 axis potentiates chemotherapy response in triple-negative breast cancer.

Purpose: Triple-negative breast cancer (TNBC) is the most aggressive subtype of breast cancer that is frequently treated with chemotherapy. However, many patients exhibit either de novo chemoresistance or ultimately develop resistance to chemotherapy, leading to significantly high mortality rates. Therefore, increasing the efficacy of chemotherapy has potential to improve patient outcomes.

Prepontine and Meckel's Cave Dermoid Cyst: MR and CT Findings with Literature Review.

Dermoid cysts (DCs) are benign, congenital tumors that comprise 0.04-0.6% of all intracranial tumors.

Slide type landslide susceptibility assessment of the Büyük Menderes watershed using artificial neural network method.

The Büyük Menderes watershed is the largest drainage watershed in Western Anatolia with an area of approximately 26,000 km. In the study area, almost 863 landslides occurred, extending over 222 km with a mean landslide area of 0.21 km.

Identification of an mRNA isoform switch for HNRNPA1 in breast cancers.

Roles of HNRNPA1 are beginning to emerge in cancers; however, mechanisms causing deregulation of HNRNPA1 function remain elusive. Here, we describe an isoform switch between the 3'-UTR isoforms of HNRNPA1 in breast cancers. We show that the dominantly expressed isoform in mammary tissue has a short half-life.

A C-term truncated EIF2Bγ protein encoded by an intronically polyadenylated isoform introduces unfavorable EIF2Bγ-EIF2γ interactions.

Eukaryotic translation initiates upon recruitment of the EIF2-GTP·Met-tRNA ternary complex (TC) to the ribosomes. EIF2 (α, β, γ subunits) is a GTPase. The GDP to GTP exchange within EIF2 is facilitated by the guanine nucleotide exchange factor EIF2B (α-ε subunits).

A prelude to the proximity interaction mapping of CXXC5.

CXXC5 is a member of the zinc-finger CXXC family proteins that interact with unmodified CpG dinucleotides through a conserved ZF-CXXC domain. CXXC5 is involved in the modulation of gene expressions that lead to alterations in diverse cellular events. However, the underlying mechanism of CXXC5-modulated gene expressions remains unclear.

A CpG island promoter drives the CXXC5 gene expression.

CXXC5 is a member of the zinc-finger CXXC family that binds to unmethylated CpG dinucleotides. CXXC5 modulates gene expressions resulting in diverse cellular events mediated by distinct signaling pathways. However, the mechanism responsible for CXXC5 expression remains largely unknown.