Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.

Germline variants in DDX41 (DDX41-germline predisposition syndrome [GPS]) are associated with predisposition to haematological malignancies (HM), including lymphoid and myeloid neoplasms (MN). We retrospectively analysed the clinical and molecular features of 195 patients diagnosed and treated at Mayo Clinic with DDX41-GPS. Patients with germline DDX41 pathogenic variants (42.

Family perceptions of prolonged hospitalization for children with complex chronic conditions: Between losses and adaptations in an uncertain future.

The aim of this study was to understand the family perception and emotional impacts on caregivers of children with chronic conditions who remained hospitalized in intensive care units for an extended period. A qualitative, descriptive-exploratory study, grounded in symbolic interactionism, was conducted with 10 primary caregivers of children with long-term experience in a Brazilian intensive care unit. Interviews were conducted, either remotely or in person, and were analyzed using thematic content analysis supplemented by lexical analysis.

Protein kinase CK2 sustains de novo fatty acid synthesis by regulating the expression of SCD-1 in human renal cancer cells.

Background: Clear cell renal cell carcinoma (ccRCC) is a type of cancer characterized by a vast intracellular accumulation of lipids that are critical to sustain growth and viability of the cells in the tumour microenvironment. Stearoyl-CoA 9-desaturase 1 (SCD-1) is an essential enzyme for the synthesis of monounsaturated fatty acids and consistently overexpressed in all stages of ccRCC growth.

Methods: Human clear cell renal cell carcinoma lines were treated with small-molecule inhibitors of protein kinase CK2.

Differential impact of impaired steryl ester biosynthesis on the metabolome of tomato fruits and seeds.

Steryl esters (SE) are a storage pool of sterols that accumulates in cytoplasmic lipid droplets and helps to maintain plasma membrane sterol homeostasis throughout plant growth and development. Ester formation in plant SE is catalyzed by phospholipid:sterol acyltransferase (PSAT) and acyl-CoA:sterol acyltransferase (ASAT), which transfer long-chain fatty acid groups to free sterols from phospholipids and acyl-CoA, respectively. Comparative mass spectrometry-based metabolomic analysis between ripe fruits and seeds of a tomato (Solanum lycopersicum cv Micro-Tom) mutant lacking functional PSAT and ASAT enzymes (slasat1xslpsat1) shows that disruption of SE biosynthesis has a differential impact on the metabolome of these organs, including changes in the composition of free and glycosylated sterols.

The effect of instructional therapeutic play on acceptance behavior of nasal lavage in hospitalized children.

Purpose: To evaluate the effect of instructional therapeutic play on acceptance of nasal lavage in children hospitalized for respiratory conditions.

Design And Methods: This quasi-experimental study was conducted at a teaching hospital. For the therapeutic play session, disposable gloves filled with compressed air and designed to resemble a human face, syringes, and saline solution ampoules were used.