Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

The role of the intraplacental fetal artery in predicting the need for cesarean-hysterectomy in women at high risk for placenta accreta spectrum.

Introduction: Prenatal determination of placenta accreta spectrum (PAS) and its severity is crucial, as it is a highly morbid condition. The aim was to investigate the intraplacental fetal artery (IFA) as a novel ultrasonographic marker in predicting cesarean-hysterectomy need in PAS.

Methods: A prospective observational cohort study was conducted with a total of 62 women with placenta previa and ≥1 previous cesarean-section who were managed for PAS between September 2022 and January 2024.

Superiority of Pathologic Lymph Node Ratio over Positive Lymph Node Count in Operated Early-Stage Breast Cancer.

Aim: In early-stage breast cancer, the axillary lymph nodes play a crucial role in determining the prognosis of the disease. The rate of lymph node involvement might be a more valuable prognostic factor than the number of positive lymph nodes. Therefore, we aimed to evaluate whether the lymph node ratio (LNR) is a superior prognostic indicator compared to the pathologic lymph node count in early-stage disease.

Chemopreventive and Chemotherapeutic Potential of Betulin and Betulinic Acid: Mechanistic Insights From In Vitro, In Vivo and Clinical Studies.

Betulin is a bioactive compound found in large quantities in birch bark and has a triterpene pentacyclic structure. Through the oxidation of betulin, betulinic acid is obtained, which is found in large quantities in nature. Betulin and betulinic acid have multiple pharmacological properties such as antiviral, anti-inflammatory, and anticancer properties.

Profilin-1 levels in preeclampsia: Associations with disease and adverse neonatal outcomes.

Background: Preeclampsia is a serious pregnancy complication requiring early detection to improve outcomes. Profilin-1 (PFN1), linked to vascular dysfunction, may serve as a biomarker for diagnosing preeclampsia and predicting adverse neonatal outcomes. The aim of this study was to determine the serum Profilin-1 levels in patients diagnosed with preeclampsia and to investigate its association with disease severity and adverse neonatal outcomes.

The relationship between the hidden curriculum and fourth-year nursing students' career plans, professional values, and professional readiness: A cross-sectional correlational study.

Objectives: This cross-sectional correlational study investigated the relationship between a hidden curriculum and fourth-year nursing students' career plans, professional values, and professional readiness.

Background: The hidden nursing education curriculum can influence professional outcomes. While nursing curriculum is designed to prepare students to become proficient nurses, the hidden curriculum is linked to unintended learning outcomes.

Unexpected sounds induce a rapid inhibition of eye-movement responses.

Unexpected sounds have been shown to trigger a global and transient inhibition of motor responses. Recent evidence suggests that eye movements may also be inhibited in a similar way, but it is not clear how quickly unexpected sounds can affect eye-movement responses. Additionally, little is known about whether they affect only voluntary saccades or also reflexive saccades.

Another lesson from the earthquake: Transdermal fentanyl dependence in two child victims.

Thousands died in the Kahramanmaraş-centered earthquake in February 2023, and even more were injured. Some were administered transdermal fentanyl patches (TFPs) due to severe pain. Two pediatric patients, both severely injured victims of the earthquake, developed dependence on TFPs and experienced difficulties during the cessation of fentanyl treatment.

Inflammatory Bowel Disease Drivers Revealed in Human Organ Chips.

Inflammatory bowel disease (IBD) patients exhibit compromised intestinal barrier function and decreased mucus accumulation, as well as increased inflammation, fibrosis, and cancer risk, with symptoms often being exacerbated in women during pregnancy. Here, we show that these IBD hallmarks can be replicated using human Organ Chips lined by IBD patient-derived colon epithelial cells interfaced with matched fibroblasts cultured under flow. Use of heterotypic tissue recombinants revealed that IBD fibroblasts are the primary drivers of multiple IBD symptoms.

Novel insights into Bacillus thuringiensis: Beyond its role as a bioinsecticide.

This review explores the diverse applications of Bacillus thuringiensis (Bt) beyond its traditional role as a bioinsecticide. Bt produces a variety of compounds with distinct chemical structures and biological activities. These include antimicrobial agents effective against plant pathogens and bioactive compounds that promote plant growth through the production of siderophores, hormones, and enzymes.

Role of Systemic Immune-Inflammation Index, Systemic Inflammation Response Index, and Pan-Immune Inflammation Value in the Prediction of Preeclampsia: A Retrospective Cohort Study.

Objective: The aim of the study was to investigate the role of systemic immune-inflammation index (SII), systemic inflammation response index (SIRI), and pan-immune inflammation value (PIV) calculated from first trimester complete blood count (CBC) in predicting preeclampsia without (PE) and with severe features (PE-SF).

Methods: This retrospective cohort study included 126 women with PE, 126 women with PE-SF, and 126 women with healthy, normotensive pregnancies delivered at a large tertiary referral hospital between 2018 and 2022. The main outcome measures were SII, SIRI, and PIV.

Atraumatic forceps-guided insertion of the cervical pessary: a new technique to prevent preterm birth in women with asymptomatic cervical shortening.

Objectives: As previous studies on the use of a cervical pessary to prevent preterm birth (PTB) have produced conflicting results, we aimed to investigate the feasibility, acceptability and safety of a new technique for inserting a cervical pessary and compare it with the traditional technique in patients at high risk of PTB.

Methods: Women at high risk of PTB treated with a cervical pessary between January 2018 and January 2021 were retrospectively evaluated. After applying exclusion criteria, a total of 68 eligible patients were identified and retrospectively analyzed.

Medical management or surgery for acute cholecystitis: Enhancing treatment selection with decision trees.

Background: This study aimed to create an algorithm using the decision tree method to classify patients with suspected acute cholecystitis into those who may improve with medical treatment, those who should undergo surgery for acute cholecystitis, and those with complicated cholecystitis, using laboratory parameters alone.

Methods: A total of 1,352 patients treated for acute cholecystitis at our hospital over four years were retrospectively analyzed. Patients were divided into groups based on whether they received medical treatment or surgery.

Pineal Gland Activity in Advanced-Stage Pediatric Neuroblastoma Patients on 68Ga-DOTATATE PET/CT.

Neuroblastoma is the most common malignancy in infants and the most common extracranial solid tumor accounting for approximately 6% of pediatric cancer. Although surgical intervention serves as the primary treatment for early-stage disease, advanced-stage cases necessitate a variety of oncologic therapeutic approaches, including 131I-MIBG and peptide receptor radionuclide therapy. Herein we report incidental pineal gland activity, represented in 68Ga-DOTATATE PET/CT (SSTR-PET) in 3 pediatric patients diagnosed with stage 4 neuroblastoma, related to the physiological distribution of radiopharmaceuticals.

The PSR corpus: A Persian sentence reading corpus of eye movements.

The present study introduces the Persian Sentence Reading (PSR) Corpus, aiming to expand empirical data for Persian, an under-investigated language in research on oculomotor control in reading. Reading research has largely focused on Latin script languages with a left-to-right reading direction. However, languages with different reading directions, such as right-to-left and top-to-bottom, and particularly Persian script-based languages like Farsi and Dari, have remained understudied.

Is Ecological Anxiety Due to Climate Change Associated With the Fertility Preferences of Women?

Background: Eco-anxiety caused by climate change, which is a significant public health problem, has negative effects on sexual and reproductive health, and these effects are expected to increase continuously. This study was conducted to determine the relationship between eco-anxiety caused by climate change and the fertility preferences of women.

Methods: This descriptive study was conducted between June and August 2024 with 491 women at the ages of 18 to 49 who were registered at a family health center.

Comparative analysis of the effects of different hypoxia mimetic agents on the secretome contents of conditioned medium obtained from mesenchymal stem/stromal cells cultured in 2 or 3-dimensional cell culture systems.

Paracrine factors secreted by mesenchymal stem/stromal cells (MSCs) have been demonstrated to have significant therapeutic potential. The secretome profiles of MSCs variate depending on culture conditions. Generally, the effects of a single preconditioning strategy on secretome profiles of MSCs were investigated.

Flood algorithm: a novel metaheuristic algorithm for optimization problems.

Metaheuristic algorithms are an important area of research that provides significant advances in solving complex optimization problems within acceptable time periods. Since the performances of these algorithms vary for different types of problems, many studies have been and need to be done to propose different metaheuristic algorithms. In this article, a new metaheuristic algorithm called flood algorithm (FA) is proposed for optimization problems.

Dynamics of Selected Milk Quality Parameters and Expression Patterns of miR-26a, miR-27a, and miR-148a During Transition From Colostrum to Mature Milk in Awassi Sheep.

This study investigated expressions of microRNA (miR)-26a, miR-27a, and miR-148a in plasma, colostrum and milk collected on different days (0th, 4th, 7th, 14th, and 28th days) during transition from colostrum to milk in Awassi sheep. Relationships between miRNAs and quality parameters were also explored. During transition, Somatic Cell Count, Fat-free dry matter, protein, lactose decreased, pH, freezing point (FP), electrical conductivity (EC) increased.

Impact of diabetes on epicardial reperfusion and mortality in a contemporary STEMI population undergoing mechanical reperfusion: Insights from the ISACS STEMI COVID 19 registry.

Background And Aim: Diabetes has been shown in last decades to be associated with a significantly higher mortality among patients with ST-segment elevation myocardial infarction (STEMI) treated with primary PCI (PPCI). Therefore, the aim of current study was to evaluate the impact of diabetes on times delays, reperfusion and mortality in a contemporary STEMI population undergoing PPCI, including treatment during the COVID pandemic.

Methods And Results: The ISACS-STEMI COVID-19 is a large-scale retrospective multicenter registry involving PPCI centers from Europe, Latin America, South-East Asia and North-Africa, including patients treated from 1st of March until June 30, 2019 and 2020.

Predictive efficacy of immature granulocytes in acute complicated appendicitis.

Objective: Acute appendicitis is the most common cause of acute abdomen. It is important to differentiate between complicated and uncomplicated appendicitis before surgery in the emergency department. Recently, immature granulocytes have become one of the biomarkers used as predictors of inflammation.