Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

Background: The autoimmune lymphoproliferative syndrome (ALPS) is a noninfectious and nonmalignant lymphoproliferative disease frequently associated with autoimmune cytopenia resulting from defective FAS signaling. We previously described germline monoallelic FAS (TNFRSF6) haploinsufficient mutations associated with somatic events, such as loss of heterozygosity on the second allele of FAS, as a cause of ALPS-FAS. These somatic events were identified by sequencing FAS in DNA from double-negative (DN) T cells, the pathognomonic T-cell subset in ALPS, in which the somatic events accumulated.

TRIM28 inactivation in epithelial nephroblastoma is frequent and often associated with predisposing TRIM28 germline variants.

Wilms tumors (WTs) are histologically diverse childhood cancers with variable contributions of blastema, stroma, and epithelia. A variety of cancer genes operate in WTs, including the tripartite-motif-containing-28 gene (TRIM28). Case reports and small case series suggest that TRIM28 mutations are associated with epithelial morphology and WT predisposition.

Humoral and cellular immune responses in fully vaccinated individuals with or without SARS-CoV-2 breakthrough infection: Results from the CoV-ADAPT cohort.

Despite recent advances in prophylactic vaccination, SARS-CoV-2 infections continue to cause significant morbidity. A better understanding of immune response differences between vaccinated individuals with and without later SARS-CoV-2 breakthrough infection is urgently needed. CoV-ADAPT is a prospective long-term study comparing humoral (anti-spike-RBD-IgG, neutralization capacity, avidity) and cellular (spike-induced T-cell interferon-γ [IFN-γ] release) immune responses in individuals vaccinated against SARS-CoV-2 at four different time points (three before and one after third vaccination).

Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity.

Triglycerides (TGs) in adipocytes provide the major stores of metabolic energy in the body. Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage, as in obesity, results in metabolic disease. We hypothesized that mice lacking TG storage in adipocytes would result in excess TG storage in cell types other than adipocytes and severe lipotoxicity accompanied by metabolic disease.

Germ line variant GFI1-36N affects DNA repair and sensitizes AML cells to DNA damage and repair therapy.

Growth factor independence 1 (GFI1) is a DNA-binding transcription factor and a key regulator of hematopoiesis. GFI1-36N is a germ line variant, causing a change of serine (S) to asparagine (N) at position 36. We previously reported that the GFI1-36N allele has a prevalence of 10% to 15% among patients with acute myeloid leukemia (AML) and 5% to 7% among healthy Caucasians and promotes the development of this disease.

Endothelial Notch1 signaling in white adipose tissue promotes cancer cachexia.

Cachexia is a major cause of morbidity and mortality in individuals with cancer and is characterized by weight loss due to adipose and muscle tissue wasting. Hallmarks of white adipose tissue (WAT) remodeling, which often precedes weight loss, are impaired lipid storage, inflammation and eventually fibrosis. Tissue wasting occurs in response to tumor-secreted factors.

Implementation of the ESPEN guideline on clinical nutrition in the intensive care unit (ICU): It is time to move forward!: A position paper from the 'nutrition in the ICU' ESPEN special interest group.

Nutritional assessment and provision of nutritional therapy are a core part of intensive care unit (ICU) patient treatment. The ESPEN guideline on clinical nutrition in the ICU was published in 2019. However, uncertainty and difficulties remain regarding its full implementation in daily practice.

Parallel evolution of linezolid-resistant in patients with cystic fibrosis.

Linezolid is an antibiotic used to treat serious infections. Resistance to linezolid is considered rare but could emerge with repeated dosing. We recently reported widespread prescription of linezolid for a cohort of patients with cystic fibrosis (CF).

Capabilities and limits of surface roughness measurements with monochromatic speckles.

For coherent light illumination, surface roughness leads to speckles in the scattered light image. By evaluating the speckle contrast or image auto-correlation, a measurement of the roughness parameter is possible. While these measurement principles have been well known for decades, a fundamental understanding of the minimal achievable measurement uncertainty is missing.

Baseline levels of miR-223-3p correlate with the effectiveness of electroconvulsive therapy in patients with major depression.

There is a strong medical need to develop suitable biomarkers to improve the diagnosis and treatment of depression, particularly in predicting response to certain therapeutic approaches such as electroconvulsive therapy (ECT). MicroRNAs are small non-coding RNAs that have the ability to influence the transcriptome as well as proteostasis at the systems level. Here, we investigate the role of circulating microRNAs in depression and response prediction towards ECT.

Stimuli-Responsive Hydrogel Microcapsules Harnessing the COVID-19 Immune Response for Cancer Therapeutics.

The combination of gene therapy and immunotherapy concepts, along recent advances in DNA nanotechnology, have the potential to provide important tools for cancer therapies. We present the development of stimuli-responsive microcapsules, loaded with a viral immunogenetic agent, harnessing the immune response against the Coronavirus Disease 2019, COVID-19, to selectively attack liver cancer cells (hepatoma) or recognize breast cancer or hepatoma, by expression of green fluorescence protein, GFP. The pH-responsive microcapsules, modified with DNA-tetrahedra nanostructures, increased hepatoma permeation by 50 %.

Translocation of C-polystyrene nanoplastics into fish during a very-low concentration dietary exposure.

Assessing the dietary accumulation of nanoplastics in animals following very-low exposure concentrations is restricted due to analytical limitations. This study adapted a method for synthesising semi-stable C-PS NPs (through styrene polymerisation) in small volumes for deployment in environmental studies. The method was developed with non-labelled material where the final polystyrene product had a primary particle size of 35 ± 8 nm (as measured by transmission electron microscopy).

A questionnaire-based investigation of the swimming puppy syndrome: 115 dogs.

Swimming Puppy Syndrome (SPS) is a benign reversible condition of unknown etiology in multiple dog breeds. Affected dogs show laterally abducted limbs and are unable to stand and walk on their own. The current knowledge of this condition derives from few case reports or small case series.

The Long COVID experience from a patient's perspective: a clustering analysis of 27,216 Reddit posts.

Objective: This work aims to study the profiles of Long COVID from the perspective of the patients spontaneously sharing their experiences and symptoms on Reddit.

Methods: We collected 27,216 posts shared between July 2020 and July 2022 on Long COVID-related Reddit forums. Natural language processing, clustering techniques and a Long COVID symptoms lexicon were used to extract the different symptoms and categories of symptoms and to study the co-occurrences and correlation between them.

Social determinants of health in pediatric trauma: Associations with injury mechanisms and outcomes in the context of the COVID-19 pandemic.

Background: Relationships between social determinants of health and pediatric trauma mechanisms and outcomes are unclear in context of COVID-19.

Methods: Children <16 years old injured between 2016 and 2021 from ten pediatric trauma centers in Florida were included. Patients were stratified by high vs.

Retroperitoneoscopic adrenalectomy may be superior to laparoscopic transperitoneal adrenalectomy in terms of costs and profit: a retrospective pair-matched cohort analysis.

Background: A direct comparison of the cost-benefit analysis of retroperitoneoscopic adrenalectomy (RPA) versus the minimally invasive transperitoneal access (LTA) approach is currently lacking. We hypothesized that RPA is more cost effective than LTA; promising significant savings for the healthcare system in an era of ever more limited resources.

Methods: We performed a monocentric retrospective observational cohort study based on data from our Endocrine Surgery Registry.

An inter-model comparison of parabolic equation methods for sound propagation from wind turbines.

The modeling of sound propagation for land-based wind turbines is a complex task that takes various parameters into account. Not only do the wind speed and wind direction affect the noise received at a certain position by changing the refraction of the sound, but also the terrain complexity, ground impedance, and receiver position relative to the source and ground all affect propagation. These effects are seen by the reflections of the sound at the ground surface causing interference of sound waves, or by the receiver being positioned in and out of noise shadow zones in the upwind far field position, or in steep terrain irregularities.

PI3K/AKT inhibitor BEZ-235 targets CCND2 and induces G1 arrest in breast implant-associated anaplastic large cell lymphoma.

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a mature, CD30-positive T-cell lymphoma lacking expression of the anaplastic lymphoma kinase (ALK). In contrast to ALK-positive ALCL, BIA-ALCL cells express cyclin D2 (CCND2) which controls cyclin dependent kinases 4 and 6 (CDK4/6). DNA methylation and expression analyses performed with cell lines and primary cells suggest that the expression of CCND2 in BIA-ALCL cell lines conforms to the physiological status of differentiated T-cells, and that it is not the consequence of genomic alterations as observed in other hematopoietic tumors.

More Nutritional Support on the Wards after a Previous Intensive Care Unit Stay: A nutritionDay Analysis in 136,667 Patients.

ICU (intensive care unit) patients are exposed to nutritional risks such as swallowing problems and delayed gastric emptying. A previous ICU stay may affect nutritional support upon transfer to the ward. The aim was to study the use of enteral (EN), parenteral nutrition (PN), and oral nutritional supplements (ONS) in ward patients with and without a previous ICU stay, also referred to as post- and non-ICU patients.

Analysis of the Mercury Content in Fish for Human Consumption in Poland.

Mercury (Hg) is a metal with toxic effects on the environment, including living organisms. Organic Hg derivatives readily penetrate biological membranes and pose a particular health risk. Food of aquatic origin is the main source of human exposure to methylmercury (MeHg).