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.

Nicking Activity of M13 Bacteriophage Protein 2.

Gene II Protein (Gp2/P2) is a nicking enzyme of the M13 bacteriophage that plays a role in the DNA replication of the viral genome. P2 recognizes a specific sequence at the f1 replication origin and nicks one of the strands and starts replication. This study was conducted to address the limitations of previous experiments, improve methodologies, and precisely determine the biochemical activity conditions of the P2 enzyme in vitro.

The Effect of Local Melatonin Application on Bone Fracture Healing in Rat Tibias.

This study aimed to histologically evaluate the effects of local melatonin application at different doses on bone fracture healing. Thirty rats were divided into three groups, with ten rats in each group. In the control group ( = 10), a fracture line was created in the tibial bones, and fracture osteosynthesis was performed without any additional procedure.

Lorlatinib Induced Blindness: A Rare Entity.

Lorlatinib is a central nervous system (CNS) penetrant third generation tyrosine kinase inhibitor (TKI) approved for the first line management of metastatic non-small cell lung cancer (NSCLC) with anaplastic lymphoma kinase (ALK) rearrangement [1] which accounts for 3-5% of NSCLC cases [2]. The most commonly reported side effects include hyperlipidemia, edema, peripheral neuropathy and CNS effects [2]. While ocular side effects such as photopsia, blurred vision, vitreous floaters and diplopia have been documented with another ALK TKI, crizotinib, there are few reports of such effects with lorlatinib [3].

Does the Type of Resin Luting Material Affect the Bonding of CAD/CAM Materials to Dentin?

This study aimed to investigate the microtensile bond strength (µTBS) of composite-based (Cerasmart), polymer-infiltrated (Vita Enamic), and feldspathic (Cerec) CAD/CAM blocks luted to dentin using a dual-cure resin cement (LinkForce), as well as micro-hybrid (G-aenial) and flowable composites (G-aenial Universal Flo), and evaluate the microhardness (HV) of luting materials through the CAD/CAM blocks. Cerasmart, Enamic, and Cerec were luted to dentin using three luting materials; LinkForce, G-aenial, and Universal Flo (n = 5). For HV, 117 disk-shaped specimens from LinkForce, G-aenial, and Universal Flo (n = 13) were polymerized through 3 mm thick CAD/CAM.

FABP4 as a therapeutic host target controlling SARS-CoV-2 infection.

Host metabolic fitness is a critical determinant of infectious disease outcomes. Obesity, aging, and other related metabolic disorders are recognized as high-risk disease modifiers for respiratory infections, including coronavirus infections, though the underlying mechanisms remain unknown. Our study highlights fatty acid-binding protein 4 (FABP4), a key regulator of metabolic dysfunction and inflammation, as a modulator of SARS-CoV-2 pathogenesis, correlating strongly with disease severity in COVID-19 patients.

Comparison of long-term outcomes of minimally invasive coronary artery bypass grafting and percutaneous coronary intervention for left main disease.

Background: Minimally invasive coronary artery bypass grafting (MICS-CABG) is frequently used for coronary revascularization, but the comparison of long-term clinical results with percutaneous coronary intervention (PCI) in left main disease (LMDs) remains unclear. The present study sought to determine the long-term outcomes of MICS-CABG and PCI in patients with LMDs.

Methods: A total of 551 consecutive patients [man: 457 (82.

The ability of end-tidal carbon dioxide value to predict the risk of major cardiovascular events in patients with acute coronary syndrome.

Objectives: In this study, the capacity of End-tidal carbon dioxide (EtCO2) levels to predict the risk of major cardiovascular events (MACE) in patients diagnosed with acute coronary syndrome and the relationship between risk scoring systems (TIMI, GRACE, HEART) and EtCO2 values were examined.

Methods: EtCO2 values of the patients in the study were measured with a capnography device. Each patient's MACE status was recorded.

Anti-angiogenic effects of cationic zinc (II) phthalocyanine derivatives through photodynamic therapy.

In this study, the in vitro photodynamic therapy (PDT) activity of two zinc phthalocyanines (ZnPc1 and ZnPc2) was systematically examined in human umbilical vein endothelial cells, focusing on PDT-induced cytotoxicity, reactive oxygen species (ROS) generation, and inhibition of angiogenic processes. Both the ZnPcs demonstrated minimal cytotoxicity in the absence of light, confirming their safety as photosensitizers. ZnPc-PDT led to significant cell death via apoptosis.

Investigation of chitin grafting: thermal, antioxidant and antitumor properties.

In this study, firstly chitin was reacted with chloracetyl chloride to synthesize the macroinitiator chitinchloroacetate (Ch.ClAc). Then, graft copolymers of methacrylamide (MAM), diacetone acrylamide (DAAM), N-(4-nitrophenyl)acrylamide (NPA), and 2-hydroxyethyl methacrylate (HEMA) monomers were synthesized by atom transfer radical polymerization (ATRP).

Severe dual fungal infection after bispecific antibody therapy: A case of invasive aspergillosis and mucormycosis in immunocompromised patient.

Bispecific antibody is a new treatment for hematological disease, especially for lymphoma, myeloma and acute lymphoblastic leukemia. This class of treatment presents the same kind of side effect as CAR-T cell which are immune-mediated. Nevertheless, infectious complication remains a major concerns with related mortality.

Functional Annotation of Bipolar Disorder 2 Risk Location Implicates Novel Susceptibility Genes.

Introduction: Bipolar 2 disorder (BD2) is an independent disease with specific familial aggregation, significant functional impairment, specific treatment challenges and several distinctive clinical features. However, unlike bipolar 1 disorder, studies investigating causal and functional genes are lacking. This study aims to identify and prioritize causal genetic variants and genes for BD2 by analyzing brain-specific gene expression markers, to improve the understanding of its genetic underpinnings and support advancements in diagnosis, treatment and prognosis.

Mannose Promotes β-Amyloid Pathology by Regulating BACE1 Glycosylation in Alzheimer's Disease.

Hyperglycemia accelerates Alzheimer's disease (AD) progression, yet the role of monosaccharides remains unclear. Here, it is demonstrated that mannose, a hexose, closely correlates with the pathological characteristics of AD, as confirmed by measuring mannose levels in the brains and serum of AD mice, as well as in the serum of AD patients. AD mice are given mannose by intra-cerebroventricular injection (ICV) or in drinking water to investigate the effects of mannose on cognition and AD pathological progression.

Factors associated with tuberculosis treatment initiation among bacteriologically negative individuals evaluated for tuberculosis: An individual patient data meta-analysis.

Background: Globally, over one-third of pulmonary tuberculosis (TB) disease diagnoses are made based on clinical criteria after a negative bacteriological test result. There is limited information on the factors that determine clinicians' decisions to initiate TB treatment when initial bacteriological test results are negative.

Methods And Findings: We performed a systematic review and individual patient data meta-analysis using studies conducted between January 2010 and December 2022 (PROSPERO: CRD42022287613).

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.

Trends in prescribing montelukast in patients with asthma in real-life: Results from the Turkish adult asthma registry.

Montelukast, a leukotriene receptor antagonist (LTRA) approved for the treatment of asthma and allergic rhinitis, is widely used, though real-world data on its application in asthma management remain limited. This registry-based study evaluated the use of montelukast in adult asthma patients, examining demographic and disease characteristics, asthma control status, asthma phenotypes, presence of atopy, and treatment regimens. Among 2053 patients analyzed, 61.

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.

Exosomal circ_0006896 promotes AML progression via interaction with HDAC1 and restriction of antitumor immunity.

Background: Drug resistance and immune escape continue to contribute to poor prognosis in AML. Increasing evidence suggests that exosomes play a crucial role in AML immune microenvironment.

Methods: Sanger sequencing, RNase R and fluorescence in situ hybridization were performed to confirm the existence of circ_0006896.

Early markers of baked milk and egg tolerance in young children with IgE-mediated immediate reactions.

Children with milk and egg allergies have outcomes in which, three-quarters are tolerant to baked forms of the allergenic food. Identifying predictors of tolerance to baked foods for IgE-mediated immediate-type reactions may guide the early introduction of baked allergens to diet and tolerance development. This study explores factors associated with early tolerance to baked foods.

Predictive Role and Clinical Value of Serum Cytokines in COVID-19.

Objective: are clinically relevant for severity prediction and treatment of COVID-19 caused by SARS-CoV-2. We aimed to demonstrate the potential cytokines for severity prediction in the five days after symptom onset and describe the importance of serum cytokine levels for patients with different disease severity.

Materials And Methods: Hospitalized COVID-19 patients and healthy control participants were recruited, and serial sera were collected from COVID-19 patients.

Comparative analysis of TNF-α (-308) gene polymorphism in Turkish patients with type 2 diabetes developing nephropathy and/or neuropathy.

Type 2 diabetes (T2DM) is a group of chronic and systemic metabolic diseases. Nephropathy (NP) and neuropathy (NR) are two common complications that severely affect the quality of life of patients with T2DM. In this study, our aim was to investigate the association between TNF-alpha (-308) gene polymorphism and the risk of developing NP and NR in patients with T2DM We also aimed to determine the association between TNF-alpha (-308) gene polymorphism and several demographic characteristics and biochemical parameters of patients with T2DM developed NP and/or NR.

Knowledge and attitudes of primary care physicians regarding acromegaly: a survey study with multinational participation.

Background: Acromegaly is a disease with high morbidity and mortality rates. The role of primary care physicians is very important in the early diagnosis of acromegaly. The present study aims to determine the knowledge and attitudes of primary care physicians about acromegaly in different countries worldwide.

Hematological diseases and the heart.

The heart, as the main part of the circulatory system, is one of the organs frequently affected by hematological diseases. Cardiac problems may develop during the course and treatment of benign and malignant hematological diseases. This review study was conducted based on recent information from the literature and manifestations of cardiac involvement in hematology were summarized.

Depression and psychological help-seeking attitude among Turkish mothers of children with autism: problem-focused coping as a mediator.

Studies demonstrate that mothers of children with autism spectrum disorder (ASD) experience depression and are less likely to seek professional psychological help. This study examined the roles of coping strategies in predicting psychological help-seeking attitudes among mothers of children with ASD. A total of 250 Turkish mothers of children with autism were recruited using purposive sampling during their training at the autism center in Istanbul.

Love as a Commitment Device : Evidence from a Cross-Cultural Study across 90 Countries.

Given the ubiquitous nature of love, numerous theories have been proposed to explain its existence. One such theory refers to love as a commitment device, suggesting that romantic love evolved to foster commitment between partners and enhance their reproductive success. In the present study, we investigated this hypothesis using a large-scale sample of 86,310 individual responses collected across 90 countries.