Health-related quality of life at diagnosis and follow-up in Faroese and Danish patients with inflammatory bowel disease - a Faroese IBD cohort study.

Background And Aims: Patients with inflammatory bowel disease (IBD) have lower health-related quality of life (HRQoL) than the general population. The highest incidence and prevalence rates of IBD in the world are found in the Faroe Islands, however, the HRQoL of Faroese patients is unknown. This study aimed to determine their HRQoL at diagnosis and two years of follow-up in comparison with Danish patients.

Extramedullary disease in Waldenström macroglobulinemia: A population-based observational study.

Introduction: Extramedullary disease (EMD) is a rare manifestation of Waldenström macroglobulinemia (WM), and its clinical and prognostic implications are poorly understood.

Methods: In this single-center study, we investigated the clinical significance of EMD in a cohort of 469 WM patients.

Results: EMD was identified in 30 (6.

Field data on sea ice restoration by artificial flooding.

A field campaign in the Vallunden lagoon in the Van Mijenfjorden on Spitsbergen was conducted to gather data on sea ice restoration by artificial flooding. Sea ice thickening was initiated by pumping sea water from below the first-year sea ice onto the surface without removing the covering snow layer. Part of the data was collected by four thermistor strings, two radiation sensors, and one anemometer.

Polyploidy linked with species richness but not diversification rates or niche breadth in Australian Pomaderreae (Rhamnaceae).

Background And Aims: Polyploidy is an important evolutionary driver for plants and has been linked with higher species richness and increases in diversification rate. These correlations of ploidy with plant radiations could be the result of polyploid lineages exploiting greater niche space and novel niches due to their enhanced adaptability. Ploidy evolution and how it links with diversification of plants across the Australian continent is not well understood.

Prognostic impact of nodal involvement in Waldenström macroglobulinaemia.

The clinical and prognostic implications of nodal involvement (NI) in Waldenström macroglobulinaemia (WM) are largely unknown. In this study, we explored the impact of NI on clinical presentation and outcome in a population-based cohort of 469 patients with WM, consecutively diagnosed between 2000 and 2022. NI was detected in 34% of patients and was associated with symptomatic disease, adverse prognostic factors, an increased risk of transformation, and lymphoma-related death.

Disruption of Lipid Profile, Glucose Metabolism, and Leptin Levels following Citalopram Administration and High-Carbohydrate and High-Cholesterol Diet in Mice.

Introduction: Depression therapy has been linked to negative effects on energy metabolism, which can be attributed to various factors, including an ongoing inflammatory process commonly seen in metabolic disorders. Unhealthy lifestyle choices of patients and the impact of antidepressants on body weight and lipid and glucose metabolism also contribute to these metabolic side effects. Although not as pronounced as other psychopharmaceuticals, the increasing use of antidepressants raises concerns about their potential impact on public health.

[Terror attacks : Recommendations for cooperation between police, hospitals and non-police security services].

Background: The risk of terrorist attacks in the Federal Republic of Germany is present and is currently increasing. Publicly funded acute care hospitals and their owners are involved in disaster control as part of their remit and are responsible for taking comprehensive precautions to ensure their operational capability in the event of disasters. This mandate must also be ensured in the event of terrorist attacks and amok incidents.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Objective: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our cohort with the literature.

Mortality of Patients With Inflammatory Bowel Disease in the Faroe Islands From 1966-2020.

Background: Increased mortality rates have been found in patients suffering from inflammatory bowel disease (IBD). The Faroe Islands have the highest occurrence of IBD, mainly ulcerative colitis (UC). This study investigated mortality of patients with IBD compared with the general Faroese population.

Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?

Pathogenic variants in CACNA1E are associated with early-onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early-onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1E variant p.

Surface temperatures are influenced by handling stress independently of corticosterone levels in wild king penguins (Aptenodytes patagonicus).

Assessing the physiological stress responses of wild animals opens a window for understanding how organisms cope with environmental challenges. Since stress response is associated with changes in body temperature, the use of body surface temperature through thermal imaging could help to measure acute and chronic stress responses non-invasively. We used thermal imaging, acute handling-stress protocol and an experimental manipulation of corticosterone (the main glucocorticoid hormone in birds) levels in breeding king penguins (Aptenodytes patagonicus), to assess: 1.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.

Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG.

Relationship between hemoglobin and grip strength in older adults: the ActiFE study.

Introduction: Although anemia is associated with low muscle strength, hemoglobin has been rarely studied considering ferritin.

Aim: To analyze the association between hemoglobin and grip strength in community-dwelling older adults.

Methods: We used data from a German cohort of adults ≥ 65 years, excluding those with CRP > 10 mg/L or taking iron supplements.

Potential impact on mental health in patients with treatment-resistant schizophrenia - clozapine augmentation with long-acting parenteral antipsychotics: a case series.

Introduction: The rate of pharmacoresistance among in patients diagnosed with schizophrenia is around 30%. Clozapineis the drug of choice for these patients; however, an adequate response to treatment doesn't always occur. One of the possible augmentation approaches, specifically for non-adherent patients, is the administration of long-acting parenteral antipsychotics.

Mutational landscape in Waldenström macroglobulinemia evaluated using a next-generation sequencing lymphoma panel in routine clinical practice.

Next-generation sequencing (NGS) affords comprehensive insights into the genomic landscape of lymphomas. We examined the mutational pattern in patients with Waldenström macroglobulinemia (WM) or lymphoplasmacytic lymphoma (LPL) as well as the diagnostic and clinical utility of a tailored NGS lymphoma panel. A consecutive series of 45 patients was reviewed and NGS analysis was performed as part of a routine diagnostic setup.

Transcutaneous (External) Dacryocystorhinostomy with Reconstruction of the Ductus nasolacrimalis.

Background: Dacryocystorhinostomy (DCR) is regarded as the gold standard for the treatment of chronic dacryocystitis (CDC). Different modifications of the surgical procedure have been developed over the years.

Methods: Patients with CDC due to postsaccal lacrimal stenosis and under treatment with DCR have been included in this retrospective study.

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

Genetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow up across health care providers. Furthermore, as new possibilities for gene-specific treatments emerge and whole genome sequencing becomes more widely available, efficient data handling and knowledge sharing between clinical laboratory geneticists and medical specialists in clinical genetics are increasingly important.

Conserved, yet disruption-prone, gut microbiomes in neotropical bumblebees.

Social bees are an important model for the ecology and evolution of gut microbiomes. These bees harbor ancient, specific, and beneficial gut microbiomes and are crucial pollinators. However, most of the research has concentrated on managed honeybees and bumblebees in the temperate zone.

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. Symptoms include intellectual disability, epilepsy, and behavioral disorders and are caused by reduced cerebral creatine levels. Targeted treatment with oral supplementation is available, however the treatment efficacy is still being investigated.