Endometrial stromal cell signaling and microRNA exosome content in women with adenomyosis.

Adenomyosis is a chronic, estrogen-driven disorder characterized by the presence of endometrial glands and stroma within the myometrium. Despite its significant impact on reproductive health and quality of life, the pathogenesis of the disease remains unclear. Both the glandular and stromal compartments of eutopic endometrium from women with adenomyosis show alterations compared to healthy subjects.

Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

Gene expression analysis of ovarian follicles and stromal cells in girls with Turner syndrome.

In patients with mosaic Turner syndrome, the ovarian somatic cells (granulosa and stromal cells) display a high level of aneuploidy with a 45,X karyotype, which may affect gene expression in the ovary and contribute to their reduced fertility. The aim of the current research is to study the effect of aneuploidy of somatic ovarian cells on gene expression in ovarian cortex stromal cells and small ovarian follicles from mosaic (45,X/46,XX) Turner syndrome patients. To this end, ovarian cortical tissue was obtained by laparoscopic surgery from eight mosaic Turner syndrome patients (aged 5-19 years) and eight controls (aged 6-18 years).

Cardiovascular PET imaging of fibroblast activation A review of the current literature.

Fibrosis is one of the key healing responses to injury, especially within the heart where it helps to maintain structural integrity following acute insults such as myocardial infarction. However, if it becomes dysregulated then fibrosis can become maladaptive leading to adverse remodelling, impaired cardiac function and heart failure. Fibroblast activation protein is exclusively expressed by activated fibroblasts, the key effector cells of fibrogenesis, and has a unique extracellular domain that is an ideal ligand for novel molecular imaging probes.

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.

Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders.

Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequencing read depth of Genomics England 100,000 Genomes Project data from 11,754 parent-child trios and additional 18,875 non-trios. A control cohort of 15,440 cancer patients provided independent deletion frequencies.

Chronic kidney disease-associated pruritus: a comparison of instruments and associations with patient-reported outcomes using an electronic patient-reported outcome survey in Europe.

Background: The associations between self-reported chronic kidney disease-associated pruritus (CKD-aP) and patient-reported outcomes (PROs) have been reported using various instruments to assess itch. Data collection via multiple CKD-aP instruments allows the evaluation of different domains and measurements of CKD-aP burden and may help tailor data capture for future research or clinical care.

Methods: An electronic PRO (ePRO) survey was distributed to European hemodialysis (HD) patients enrolled in the Dialysis Outcomes and Practice Patterns Study (DOPPS) in 2021-23.

Hybrid stenting through direct ventricular access for severe stenosis of the pulmonary venous baffle after atrial switch operation for transposition of the great arteries: a case report.

Background: Atrial switch repair was the first surgical intervention to result in long-term survival in patients with ventriculo-arterial discordance or transposition of the great arteries. However, the natural history after atrial switch is not uneventful with frequent atrial arrhythmia, development of baffle stenosis, and eventually heart failure. For this, new interventions might be necessary but are often associated with increased risk.

Preoperative susceptibility to developing secondary hyperalgesia is associated with post-thoracotomy pain at 2 months.

Background: Identifying the subset of patients at risk for developing persistent pain after surgery is clinically important as they could benefit from targeted prevention measures. In this prospective study, we investigated if the preoperative assessment of the individual susceptibility to developing experimentally induced secondary hyperalgesia is associated with post-thoracotomy pain at 2 months.

Methods: Forty-one patients scheduled to undergo a posterolateral thoracotomy were recruited before surgery and followed prospectively for 2 months.

Sperm morphology value in assisted reproduction: dismantling an enigma and key takeaways for the busy clinician.

The ideal morphology of the sperm cell was initially described based on the characteristics of sperm able to migrate through the endocervical canal assuming these had the best fertilization potential. Sperm morphology assessment has moved over the years toward stricter criteria based on the findings from studies that underline its value in successful reproductive outcomes. While treatment options are clear for some conditions related to abnormal sperm morphology, the value of sperm morphology in assisted reproduction requires further investigation.

Arginine supplementation improves lactate dehydrogenase levels in steady-state sickle cell patients: preliminary findings from Kinshasa, the Democratic Republic of Congo.

Background: Sickle cell disease (SCD) disrupts oxygen transport due to the abnormal shape and rigidity of red blood cells, leading to hemolysis. Hemolysis, a major co-morbidity in SCD, is indicated by elevated levels of lactate dehydrogenase (LDH). Arginine depletion, which is essential for nitric oxide (NO) synthesis, contributes to various complications in SCD.

The first use of "lupus" as a disease.

Objectives: Describe the history of the use of the term "lupus" as a disease and to point out the inaccuracies of previous lupus historical articles and correct the historical record.

Methods: An exhaustive review of Medieval and later texts regarding the use of the term "lupus" as it was used for the name of a disease as well as personal communications with Medieval experts who have studied this topic.

Results: There are three possible first uses of "lupus" as a disease: an affidavit written in 963 AD by Eraclius (Bishop of Liège, Belgium), in a 12th century historical account of the Bishop of Liège, falsely ascribed to the 9th century Bishop Herbernus, or in an 1170 AD letter written by Pierre de Blois about the death of archbishop Stephan du Perche.

Endoscopic papillectomy versus surgical ampullectomy for adenomas and early cancers of the papilla: a retrospective Pancreas2000/European Pancreatic Club analysis.

Objective: Ampullary neoplastic lesions can be resected by endoscopic papillectomy (EP) or transduodenal surgical ampullectomy (TSA) while pancreaticoduodenectomy is reserved for more advanced lesions. We present the largest retrospective comparative study analysing EP and TSA.

Design: Of all patients in the database, lesions with prior interventions, benign histology advanced malignancy (T2 and more), patients with hereditary syndromes and those undergoing pancreatoduodenectomy were excluded.

International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical Appraisal.

Introduction: Evidence-based clinical practice guidelines drive optimal patient care and facilitate access to high-quality treatment. Creating guidelines for rare diseases such as haemophilia, where evidence does not often come from randomized controlled trials but from non-randomized and well-designed observational studies and real-world data, is challenging. The methodology used for assessing available evidence should consider this critical fact.

Endotyping in Chronic Rhinosinusitis-An EAACI Task Force Report.

Chronic rhinosinusitis (CRS) is a clinical syndrome defined by typical sinonasal symptoms persisting for at least 12 weeks. CRS is divided into two distinct phenotypes, CRS with nasal polyps (CRSwNP) and without (CRSsNP). The aim of the review is to provide an update on the current knowledge in CRS endotypes.

European guidelines for the diagnosis and treatment of pancreatic exocrine insufficiency: UEG, EPC, EDS, ESPEN, ESPGHAN, ESDO, and ESPCG evidence-based recommendations.

Pancreatic exocrine insufficiency (PEI) is defined as a reduction in pancreatic exocrine secretion below the level that allows the normal digestion of nutrients. Pancreatic disease and surgery are the main causes of PEI. However, other conditions and upper gastrointestinal surgery can also affect the digestive function of the pancreas.

Intratumoral delivery of lipid nanoparticle-formulated mRNA encoding IL-21, IL-7, and 4-1BBL induces systemic anti-tumor immunity.

Local delivery of mRNA-based immunotherapy offers a promising avenue as it enables the production of specific immunomodulatory proteins that can stimulate the immune system to recognize and eliminate cancer cells while limiting systemic exposure and toxicities. Here, we develop and employ lipid-based nanoparticles (LNPs) to intratumorally deliver an mRNA mixture encoding the cytokines interleukin (IL)-21 and IL-7 and the immunostimulatory molecule 4-1BB ligand (Triplet LNP). IL-21 synergy with IL-7 and 4-1BBL leads to a profound increase in the frequency of tumor-infiltrating CD8 T cells and their capacity to produce granzyme B and IFN-γ, leading to tumor eradication and the development of long-term immunological memory.

Childhood interstitial lung disease survivors in adulthood: a European collaborative study.

Background: Interstitial lung disease (ILD) is rarer in children (chILD) than adults, but with increasing diagnostic awareness, more cases are being discovered. chILD prognosis is often poor, but increasing numbers are now surviving into adulthood.

Aim: To characterize chILD-survivors and identify their impact on adult-ILD centers.

Advantages of a genomic DNA-based NGS assay for detection of mutant NPM1 measurable residual disease in AML.

Mutations in the Nucleophosmin-1 (NPM1) gene are among the most common molecular aberrations in acute myeloid leukemia (AML). Various studies have established mutant NPM1 (mNPM1) as a faithful molecular measurable residual disease (MRD) marker with prognostic significance. Assessment of prognostic mNPM1 is included in the European LeukemiaNet (ELN) recommendations on MRD detection in AML.

Comparison of Maitland Passive Joint Mobilization and Self-Rehabilitation on Function, Activity, and Quality of Life in Beninese Patients With Hip Osteoarthritis: A Pragmatic Randomized Trial.

Background: Orthopedic manual therapy is currently considered as an alternative approach for treating hip osteoarthritis. However, studies assessing its efficacy in low-income countries in Sub-Saharan Africa are scarce.

Objectives: Investigating the effectiveness of Maitland passive joint mobilization (Maitland PJM) compared to self-rehabilitation in patients with hip osteoarthritis in Benin, a low-income country, in Sub-Saharan Africa.

Correction: Enteroscopy-assisted ERCP in patients with surgically altered anatomy: Multicenter prospective registry (SAMISEN-B) using motorized spiral enteroscopy.

[This corrects the article DOI: 10.1055/a-2443-1514.].