German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.

: Acute intermittent porphyria (AIP) is a metabolic disease characterised by neurovisceral crises with episodes of acute abdominal pain alongside life-altering, and often hidden, chronic symptoms. The elimination of precipitating factors, hemin therapy, and pain relief are strategies used to treat porphyria symptoms, but are often reserved for patients suffering recurrent, acute attacks. Givosiran (siRNA) is an emerging AIP therapy capable of silencing delta-aminolevulinic acid synthase-1 (ALAS1) and, in turn, reducing the accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) that precede porphyria symptoms.

Blood calprotectin as a biomarker for infection and sepsis - the prospective CASCADE trial.

Background: Early in the host-response to infection, neutrophils release calprotectin, triggering several immune signalling cascades. In acute infection management, identifying infected patients and stratifying these by risk of deterioration into sepsis, are crucial tasks. Recruiting a heterogenous population of patients with suspected infections from the emergency department, early in the care-path, the CASCADE trial aimed to evaluate the accuracy of blood calprotectin for detecting bacterial infections, estimating disease severity, and predicting clinical deterioration.

Advance directives in the emergency department-a systematic review of the status quo.

Background: Providing individualised healthcare in line with patient wishes is a particular challenge for emergency healthcare professionals. Documentation of patient wishes (DPW), e.g.

German Porphyria Registry (PoReGer)-Background and Setup.

Porphyrias, as most rare diseases, are characterized by complexity and scarcity of knowledge. A national registry in one of the largest European populations that prospectively collects longitudinal clinical and laboratory data are an important and effective tool to close this gap. The German Porphyria Registry (PoReGer) was founded by four centers with longstanding expertise in the field of porphyrias and rare diseases (Charité-Universitätsmedizin Berlin, Porphyria Center Saxony Chemnitz, University Medical Center Hamburg-Eppendorf, University Medical Center Göttingen) and the German reference laboratory for porphyria, and is supported by the largest German porphyria patient organization.

[Survey on the presence of palliative care knowledge and palliative care structures in German emergency departments].

Patients with life-limiting or palliative illnesses represent a challenge for emergency departments because, despite the growing availability of specialized outpatient palliative care resources at home, patients often present during symptom exacerbations or when family caregivers become overwhelmed. Also, as life-limiting illnesses are frequently first diagnosed there and treatment goals are adjusted, it appears advantageous to establish early connections between emergency patients with palliative needs and palliative care resources. The objective of this study was to conduct a survey evaluating the availability of fundamental palliative care knowledge and palliative care structures in clinical acute and emergency medicine.

[Care for dying patients in the emergency department].

Patients at the end of life frequently receive care in emergency departments. Emergency physicians are faced with caring for both patients who pass away suddenly following an acute illness or injury despite rescue efforts, as well as those who are dying from a chronic condition or high age. To provide proper care and respect the patients' wishes regarding invasive treatments, emergency physicians should be knowledgeable about advance directives and have effective communication skills when delivering bad news to patients and their family.

Detect Acute Porphyrias in Emergency Departments (DePorED) - a pilot study.

Background: Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, thus leading to presentation in emergency departments (ED) first. Due to the low prevalence, diagnosis of AP is often missed, even after readmission to the ED.

Prospective validation of a transcriptomic severity classifier among patients with suspected acute infection and sepsis in the emergency department.

Background And Importance: mRNA-based host response signatures have been reported to improve sepsis diagnostics. Meanwhile, prognostic markers for the rapid and accurate prediction of severity in patients with suspected acute infections and sepsis remain an unmet need. IMX-SEV-2 is a 29-host-mRNA classifier designed to predict disease severity in patients with acute infection or sepsis.

Plasma Proteome Fingerprints Reveal Distinctiveness and Clinical Outcome of SARS-CoV-2 Infection.

Background: We evaluated how plasma proteomic signatures in patients with suspected COVID-19 can unravel the pathophysiology, and determine kinetics and clinical outcome of the infection.

Methods: Plasma samples from patients presenting to the emergency department (ED) with symptoms of COVID-19 were stratified into: (1) patients with suspected COVID-19 that was not confirmed ( = 44); (2) non-hospitalized patients with confirmed COVID-19 ( = 44); (3) hospitalized patients with confirmed COVID-19 ( = 53) with variable outcome; and (4) patients presenting to the ED with minor diseases unrelated to SARS-CoV-2 infection ( = 20). Besides standard of care diagnostics, 177 circulating proteins related to inflammation and cardiovascular disease were analyzed using proximity extension assay (PEA, Olink) technology.

Adipose Tissue Distribution in Patients with Alzheimer's Disease: A Whole Body MRI Case-Control Study.

Background: Total and central adiposity have been associated with increased risk of Alzheimer's disease (AD). Visceral and subcutaneous adipose tissues have different metabolic characteristics and could therefore be differentially associated with AD.

Objective: To compare regional fat distribution determined by magnetic resonance imaging (MRI) in AD patients and healthy controls and investigate associations with stage of the disease and chemical markers.