Detection of clinically relevant variants in the gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.

Ruptured Ectopic Pregnancy in a Non-communicating Rudimentary Horn at 18 Weeks of Gestation.

This case highlights the critical role of early radiological screening by ultrasound in identifying uterine anomalies. In this report, we discuss a 39-year-old pregnant woman, gravida 4 para 3, and her fetus at gestational age 18 weeks. The patient was referred to the Obstetrics and Gynecology Emergency Department at Qatif Central Hospital, Saudi Arabia, from a private hospital due to an ultrasound study indicating a possible ectopic pregnancy with an abdominal fetal location.

The effects of clinical and pharmacological factors on the ratio of clozapine to norclozapine in psychiatric patients.

Background: Due to its exceptional effectiveness, clozapine (CLO), whose metabolite is norclozapine (NCLO), is a drug of choice in the management of treatment-resistant schizophrenia. The purpose of this study was to assess the factors modifying the CLO/NCLO ratio (CNR).

Methods: A total of 446 blood samples (233 of which were drawn from females and 213 from males, aged from 18 to 77 years) were analyzed in this study.

Comparative analysis of anticoagulant influence on PMI estimation based on porcine blood metabolomics profile measured using GC-MS.

Introduction: Accurate post-mortem interval (PMI) estimation is essential in forensic investigations. Although various methods for PMI determination have been developed, only an approximate estimation is still achievable, and an accurate PMI indication is still challenging. Therefore, in this study, we employed gas chromatography-mass spectrometry (GC-MS)-based metabolomics to assess post-mortem changes in porcine blood samples collected with and without the addition of anticoagulant (EDTA).

Mental wellbeing of higher education students in challenging times.

Objective: Student age and starting higher education require adaptation to a new physical and psychosocial environment, making the time of studies a highly sensitive period. Current and future generations of students are also likely to face additional global stressors, which potentially exacerbate their mental wellbeing. The aim of the study was to investigate how higher education students' appraisal of the COVID-19 pandemic situation and of their personal resources predict mental wellbeing (anxiety and curiosity).

Immunosuppressive therapy and nutritional diseases of patients after kidney transplantation: a systematic review.

Background: Kidney transplantation (kTx) is by far the most effective method of treating end-stage renal disease, with immunosuppressive therapy being obligatory for all, except identical twins. Despite kTx being the most effective treatment for end-stage renal disease, the patients face significant morbidity. They are often burdened with diabetes, anaemia, lipid disorders, all of which pose heightened risks for cardiovascular disease.

Single-cell and spatial transcriptomics illuminate bat immunity and barrier tissue evolution.

Bats have adapted to pathogens through diverse mechanisms, including increased resistance - rapid pathogen elimination, and tolerance - limiting tissue damage following infection. In the Egyptian fruit bat (an important model in comparative immunology) several mechanisms conferring disease tolerance were discovered, but mechanisms underpinning resistance remain poorly understood. Previous studies on other species suggested that elevated basal expression of innate immune genes may lead to increased resistance to infection.

Complete blood counts as potential risk factors of early dissemination to liver and lungs in resected colorectal cancer: a retrospective cohort study.

Purpose: Liver and lung metastases demonstrate distinct biological, particularly immunological, characteristics. We investigated whether preoperative complete blood count (CBC) parameters, which may reflect the immune system condition, predict early dissemination to the liver and lungs in colorectal cancer (CRC).

Methods: In this retrospective single-centre study, we included 268 resected CRC cases with complete 2-year follow-up and analysed preoperative CBC for association with early liver or lung metastasis development.

Immunohistochemical analysis of 147 cases of low-grade endometrial stromal sarcoma: refining the immunohistochemical profile of LG-ESS on a large, molecularly confirmed series.

Low-grade endometrial stromal sarcoma (LG-ESS) can present diagnostic challenges, due to its overlapping morphological features with other uterine mesenchymal tumors. Misdiagnosis rates remain significant, and immunohistochemical data for LG-ESS are limited to small series and inconsistent antibody panels. This study aimed to refine the IHC profile of LG-ESS by analyzing a large, molecularly confirmed series of 147 cases using a panel of 24 antibodies, including newer markers like transgelin and smoothelin.

Mid-term Clinical and Radiographic Outcomes of the Actis Total Hip System: A Retrospective Study.

Introduction Implant technology for total hip arthroplasty (THA) was developed to improve hip function and patient satisfaction. Actis (DePuy Synthes, Warsaw, IN, USA) is a short fit-and-fill titanium stem, with a medial-collared and triple-taper (MCTT) geometry, that is fully coated with hydroxyapatite (HA). We evaluated the radiographic and clinical outcomes of the Actis Total Hip System during a mean follow-up of five years.

Novel serum biomarkers for early diagnosis of gestational diabetes mellitus-a review.

Gestational diabetes mellitus (GDM) affects 9-25% of pregnancies. Undiagnosed or poorly managed GDM is associated with both short- and long-term complications in the fetus and mother. The pathogenesis of GDM is complex and has not yet been fully elucidated.

Resistant Renovascular Hypertension in Youth: Fibromuscular Dysplasia or Takayasu Arteritis?

BACKGROUND Arterial hypertension in pediatric patients often presents complex diagnostic and therapeutic challenges. The diagnosis of hypertension in children is based on different guidelines than in adults, with arterial hypertension in children defined as systolic and/or diastolic blood pressure values at or above the 95th percentile for age, sex, and height. Unlike adult populations, it is predominantly secondary in etiology, with conditions such as renovascular hypertension as common causes.

Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.

Introduction And Hypothesis: Pelvic floor dysfunction usually results in pelvic organ prolapse (POP) and/or urinary incontinence. In women, several factors, including pregnancy and vaginal delivery, can affect pelvic muscle conditions. The aim of the study was to perform a genetic analysis in young women with a family history of pelvic floor dysfunction to find potentially harmful variants or variants that increase the risk of developing pelvic floor disorders.

Targeting GABA signaling in type 1 diabetes and its complications- an update on the state of the art.

Type 1 diabetes (T1D) is an autoimmune disease that leads to the progressive destruction of insulin-producing β cells, resulting in lifelong insulin dependence and a range of severe complications. Beyond conventional glycemic control, innovative therapeutic strategies are needed to address the underlying disease mechanisms. Recent research has highlighted gamma-aminobutyric acid (GABA) as a promising therapeutic target for T1D due to its dual role in modulating both β cell survival and immune response within pancreatic islets.

Trust in scientists and their role in society across 68 countries.

Science is crucial for evidence-based decision-making. Public trust in scientists can help decision makers act on the basis of the best available evidence, especially during crises. However, in recent years the epistemic authority of science has been challenged, causing concerns about low public trust in scientists.

Perceptions of science, science communication, and climate change attitudes in 68 countries - the TISP dataset.

Science is integral to society because it can inform individual, government, corporate, and civil society decision-making on issues such as public health, new technologies or climate change. Yet, public distrust and populist sentiment challenge the relationship between science and society. To help researchers analyse the science-society nexus across different geographical and cultural contexts, we undertook a cross-sectional population survey resulting in a dataset of 71,922 participants in 68 countries.

A customizable multiplex protein microarray for antibody testing and its application for tick-borne and other infectious diseases.

Tick-borne infections are the most common vector-borne diseases in the USA. Ticks harbor and transmit several infections with Lyme disease being the most common tickborne infection in the US and Europe. Lack of awareness about tick populations, specific diagnostic tests, and overlapping signs and symptoms of tick-borne infections can often lead to misdiagnosis affecting treatment and the prevalence data reported especially for non-Lyme tick-borne infections.

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.

Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.

Paediatric Otogenic Cerebral Venous Thrombosis: Diagnostic Approach and Therapeutic Management - A Five-Year Single-Centre Experience.

<b>Introduction:</b> Central venous thrombosis (CVT) represents a well-documented complication of acute otitis media (AOM) and acute mastoiditis (AM). Despite widespread antibiotic utilization, which has significantly reduced the incidence of severe AOM/AM complications, recent years have witnessed an increasing frequency of thrombotic complications in pediatric patients, not invariably presenting with classical neurological manifestations.<b>Aim:</b> This study aimed to investigate the potential correlation between COVID-19 infection and increased CVT incidence, while sharing therapeutic experiences, given the absence of standardized treatment protocols for otogenic CVT in pediatric populations.

Impact of lymph node involvement in pulmonary carcinoids: a narrative review.

Background And Objective: Pulmonary carcinoids (PCs) represent a rare subset of neuroendocrine tumors (NETs) within the respiratory tract that exhibit unique characteristics and clinical behaviors. These tumors are currently staged according to the tumor-nodules-metastases (TNM) classification of non-small cell lung cancer (NSCLC), which brings their reliability into question. The aim of this study was to assess reliability of the current TNM staging of PCs and explore other relevant prognostic factors of patient outcomes.

Emerging insights into , and mutations: implications for immunotherapy in patients with advanced non-small cell lung cancer.

Immune checkpoint inhibitors (ICIs) have become an established treatment option for patients with advanced non-small cell lung cancer (NSCLC). However, the efficacy of single-agent immunotherapy as well as in combination with chemotherapy seems to be dependent on the presence of molecular abnormalities in some genes-serine/threonine kinase 11 (), Kelch-like ECH-associated protein 1 () and Kirsten rat sarcoma viral oncogene homolog () among them. The gene is a critical regulator of the cellular response to oxidative stress and electrophilic stress, thus playing a pivotal role in maintaining cellular homeostasis.

Relaxin mimetic in pulmonary hypertension associated with left heart disease: Design and rationale of Re-PHIRE.

Aims: Despite receiving guideline-directed medical heart failure (HF) therapy, patients with pulmonary hypertension associated with left heart disease (PH-LHD) experience higher mortality and hospitalization rates than the general HF population. AZD3427 is a functionally selective, long-acting mimetic of relaxin, a hormone that has the potential to induce vasodilation and prevent fibrosis. In a phase 1b study conducted in patients with HF, AZD3427 demonstrated a favourable safety and pharmacokinetic profile.

Long-Term Follow-Up After the Charles Procedure: Possibilities for Minimally Invasive Reconstructive Lymphedema Surgery With Lymphaticovenous Anastomosis: A Report of Four Cases.

The Charles procedure (CP) is a potentially devastating treatment; however, in cases of an end stage of untreated or improperly treated lymphedema, it is the ultimate surgical therapy. As a life-saving solution, it quickly relieves patients with giant, hypertrophic extremities, mostly in ambulation and hygiene maintenance. Nevertheless, long-term results may disappoint both doctors and patients, who struggle with social stigma, the need for lifelong compression, massive lymphoedema in the distal parts of the feet, badly fitting shoes, excessive skin fibrosis, severe keratinization of skin-grafted surfaces, periodic lymphorrhea from the resected areas, or acute and chronic inflammation.