Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision.

Olfaction function improves in a specialised unit for Parkinson's disease.

In-patient treatment of patients with Parkinson's disease is common in specialized units. Reports on the efficacy of this hospitalisation often focus on rating scale outcomes. They measure motor and non motor symptoms, but did not include standardised evaluation of olfaction.

Removal of EpCAM-positive tumor cells during intraoperative blood salvage- A pivotal multicenter clinical study (REMOVE).

Background: Intraoperative blood salvage can reduce the need for allogeneic blood transfusions, minimizing immunological risks and infection by reusing the patient's own blood. However, in cancer surgery, a key concern limiting its use is the potential reintroduction of viable cancer cells. Additional risks, such as infection and coagulopathy, have also contributed to its limited adoption.

The role of oligodendroglial dysfunction in Huntington's disease.

Huntington's disease (HD) is a fatal neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric symptoms. Research efforts to understand and treat the disease have historically focused on neuronal pathology, but growing evidence underscores the critical role of oligodendrocytes in its pathogenesis. This review synthesizes recent findings on oligodendroglial dysfunction in HD, showing that white matter abnormalities arise early in disease progression, often preceding gray matter changes and clinical symptoms.

Plasma albumin in patients with severe anorexia nervosa admitted to a specialized medical unit.

Objective: Anorexia nervosa (AN) is a condition characterized by chronic malnutrition. This study aims to determine the frequency of hypoalbuminemia in individuals with severe, medical unstable AN and its associations with inflammation and mortality.

Method: Data were collected from electronic health records on patients admitted to a specialized, medical unit in Denmark between 2017 and 2021.

Carbon Dioxide and Hemoglobin at Presentation with Hypertrophic Pyloric Stenosis-Are They Relevant? Cohort Study and Current Opinions.

Background: Recurrent vomiting in infantile hypertrophic pyloric stenosis (IHPS) leads to metabolic alkalosis and a respiratory-driven compensatory hypercapnia. Alkalosis has been identified as the main causal factor for respiratory depression on admission. The value of contribution of hemoglobin and carbon dioxide partial pressure to this phenomenon will be evaluated.

Preoperative Mechanical Ventilation Prior to Surgical Repair for Type A Aortic Dissection: Incidence, Risk, and Outcomes.

Objectives: Several conditions associated with type A aortic dissection may require preoperative invasive mechanical ventilation (IMV). The current literature lacks data on this subset of patients' prevalence and postoperative outcomes. This study aims to investigate this unexplored issue in a multicenter European registry.

Pharmacological Gq targeting prevents asthmatic airway remodeling.

Airway remodeling is a critical hallmark of chronic asthma that is very difficult to treat. We have investigated this pathological process and found that local application of the pharmacological Gq inhibitor FR900359 (FR) attenuates the main features of airway remodeling, namely collagen deposition and goblet cell metaplasia in the chronic ovalbumin-induced asthma model in mice. We have explored the molecular mechanisms underlying the FR action and demonstrate that FR mitigates the growth of human lung fibroblasts in response to pathological stimuli in vitro.

Impact of sex on the outcome of troponin-positive patients with non-obstructive coronary arteries.

The aim of this study was to investigate the prognostic impact of sex on in- and out-of-hospital adverse events in troponin-positive patients with non-obstructive coronary artery disease (CAD). 24,775 patients who underwent coronary angiography from 2010 to 2021 were screened for this study. The final study population consisted of 373 troponin-positive patients with non-obstructive CAD with a follow-up period of 6.

A New Prognostic Index (CLIPI) for Advanced Cutaneous Lymphoma Enables Precise Patient Risk Stratification.

Advanced mycosis fungoides (MF) and Sézary syndrome (SS) have a poor prognosis with overall survival <5 years. Studies have found the current clinical staging (IA-IVB) inadequate for risk stratification. Developing a prognostic index in MF/SS will identify patients with poor outcomes and may allow better management decisions and improved survival.

COVID-19 and Myocarditis: Trends, Clinical Characteristics, and Future Directions.

COVID-19, caused by SARS-CoV-2, has been associated with a range of cardiovascular complications, including myocarditis. This review aims to systematically present the clinical manifestations, underlying pathophysiological mechanisms, diagnostic approaches, and management strategies for both COVID-19-associated myocarditis and myocarditis related to SARS-CoV-2 vaccination. We conducted a literature search using the PubMed database, covering studies published up to early 2024.

Cerebral Near-Infrared Spectroscopy and Electrical Cardiometry During Endotracheal Suction in Ventilated Infants Following Surgery: A Feasibility Study.

Unlabelled: Near-Infrared Spectroscopy (NIRS) and Electrical Cardiometry (EC) are promising non-invasive techniques for monitoring tissue oxygenation and hemodynamics, particularly in surgically ill infants who struggle to maintain cerebral oxygenation and systemic perfusion. There is limited data regarding the combined use of these techniques during respiratory procedures such as endotracheal suction in intubated infants.

Methods: The effects of 38 endotracheal suction maneuvers on cerebral oxygenation and cardiovascular hemodynamics were investigated in seven intubated infants following non-cardiac surgery.

Deep learning based automation of mean linear intercept quantification in COPD research.

Chronic obstructive pulmonary disease (COPD), a major cause of global mortality, necessitates novel therapies targeting lung function and remodeling. Their effect on emphysema formation is initially investigated using mouse models by analyzing histological lung sections. The extent of airspace enlargement that is characteristic for emphysema is quantified by manual assessment of the mean linear intercept (MLI) across multiple histological microscopy images.

Adverse socioeconomic factors are associated with a widening gap in one-year health-related quality of life after acute myocardial infarction.

Acute myocardial infarction (AMI) has a significant impact on the health-related quality of life (HRQoL) and is influenced by unfavorable socioeconomic factors. We aimed to evaluate the association between adverse socioeconomic factors including low educational level, low occupational qualification and financial hardship with presenting symptoms and HRQoL in patients hospitalized for an AMI. We hypothesized a detectable effect on a spatial level and therefore assessed the HRQoL in 298 patients with AMI using the EQ-5D-5L generic measure for health status.

Short- and mid-term functional outcomes of STARR procedure in obstructed defecation syndrome.

Background: To assess the efficacy of the stapled transanal rectal resection (STARR) procedure in treating obstructed defecation syndrome (ODS) in patients with rectocele and rectoanal intussusception grade II-III, focusing on symptom resolution, functional improvement, and pain reduction.

Methods: This prospective study included patients undergoing STARR for ODS. Preoperative parameters such as anal pain, smearing, itching, bleeding, and obstructed defecation symptoms were assessed using standardized questionnaires (Wexner and Altomare).

Design, development and evaluation of a tritium-labeled radiotracer for ecto-5'-nucleotidase (CD73) - A versatile research tool and diagnostic agent for personalized medicine.

Ecto-5'-nucleotidase (CD73) is the main enzyme that catalyzes the hydrolysis of extracellular AMP to produce anti-inflammatory, immunosuppressive adenosine. Many tumor cells over-express ectonucleotidases accumulating adenosine in the tumor microenvironment, which promotes tumor growth, metastasis, angiogenesis, and immune escape. CD73 is upregulated in inflammation, and possesses potential as a biomarker and as a novel drug target for inflammatory diseases and cancer immunotherapy.

Phase II trial of atezolizumab (Anti-PD-L1) in the treatment of relapsed/refractory IIB/IVB mycosis fungoides/Sézary syndrome patients after previous systemic treatment. EORTC-1652-CLTG "PARCT".

Introduction: Treatment of advanced mycosis fungoides (MF) and Sézary syndrome (SS) is a challenge. In this international, multicenter, open-label phase II trial, we assessed the efficacy and safety of anti-PD-L1 atezolizumab in stage IIB-IV refractory/relapsed MF and SS.

Materials And Methods: Patients received atezolizumab 1200 mg IV Q3w for up to 1 year unless progression or withdrawal.

Prognostic Value of Noninvasive Central Blood Pressure and Arterial Stiffness in Hemodynamic Shock.

Objectives: Elevated central blood pressure (BP) and arterial stiffness are risk factors for cardiovascular mortality. However, their prognostic value in patients with hemodynamic shock has not been studied broadly. Evolved BP monitoring devices enable the noninvasive assessment of central BP and arterial stiffness.

Coronary artery calcification score as a prognostic factor in younger patients with multiple myeloma undergoing autologous stem cell therapy.

Background: Coronary artery calcification (CAC) scoring can be performed as a by-product of computed tomography (CT). CAC scoring may reflect the general cardiovascular risk profile of patients. The aim of the present study was to determine the impact of CAC on overall survival (OS) in patients with multiple myeloma (MM).

Subnanomolar MAS-related G protein-coupled receptor-X2/B2 antagonists with efficacy in human mast cells and disease models.

The MAS-related G protein-coupled receptor-X2 (MRGPRX2), an orphan receptor expressed on mast cells (MCs), is upregulated upon inflammation and induces hypersensitivity and inflammatory diseases. In contrast to the large number of MRGPRX2 agonists, only a few antagonists have been described, and no optimization has been reported to improve potency, selectivity, and drug-like properties. Antagonists with ancillary inhibition of the putative mouse ortholog MRGPRB2 have not been described.