Scurvy in an 18-month-old child mimicking a clinical presentation of rickets.

Scurvy is now considered to be a rare disease in European countries, even among children, but it still exists. We report the case of an 18-month-old boy who was initially hospitalized for a walking disorder and ultimately diagnosed with scurvy. Radiographs were compatible with rickets, but biological analysis ruled out this diagnosis.

Vitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.

Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.

Exploration of histone protein γ-H2AX as a prognostic factor in soft tissue sarcomas and its association with biological behavior, immune cell environment and survival in leiomyosarcoma.

This study evaluates the H2AX/γ-H2AX expression in soft tissue sarcomas (STS), its implications for biological behavior and immune environment, and its potential as a prognostic biomarker. RNA-Seq data from 237 STS were obtained from The Cancer Genome Atlas project. Patients were stratified by H2AX mRNA expression using a survival-associated cutoff.

Mantle oxidation by sulfur drives the formation of giant gold deposits in subduction zones.

Oxidation of the sub-arc mantle driven by slab-derived fluids has been hypothesized to contribute to the formation of gold deposits in magmatic arc environments that host the majority of metal resources on Earth. However, the mechanism by which the infiltration of slab-derived fluids into the mantle wedge changes its oxidation state and affects Au enrichment remains poorly understood. Here, we present the results of a numerical model that demonstrates that slab-derived fluids introduce large amounts of sulfate (S) into the overlying mantle wedge that increase its oxygen fugacity by up to 3 to 4 log units relative to the pristine mantle.

Comparing Medical Record Abstraction (MRA) error rates in an observational study to pooled rates identified in the data quality literature.

Background: Medical record abstraction (MRA) is a commonly used method for data collection in clinical research, but is prone to error, and the influence of quality control (QC) measures is seldom and inconsistently assessed during the course of a study. We employed a novel, standardized MRA-QC framework as part of an ongoing observational study in an effort to control MRA error rates. In order to assess the effectiveness of our framework, we compared our error rates against traditional MRA studies that had not reported using formalized MRA-QC methods.