Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.

Background/objectives: Adrenocortical tumors (ACTs), including adrenocortical adenoma (ACA) and carcinoma (ACC), represent 0.3-0.4% of pediatric tumors.

TPM4 overexpression drives colon epithelial cell tumorigenesis by suppressing differentiation and promoting proliferation.

Objective: The high morbidity and mortality associated with colorectal cancer (CRC) and the recent increases in early-onset CRC obviate the need for novel methods to detect and treat this disease, particularly at early stages. We hypothesize that aberrant expression of genes involved in the crypt-luminal migration of colon epithelial cells, a process necessary for their growth arrest and maturation, may disrupt differentiation and transition cells from a normal to tumorigenic state.

Methods: We searched for contractility- and motility-related genes that are dysregulated in human CRC relative to normal colon.

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome.

Protocol for reticulocyte enrichment from low-volume human blood samples from alpha-thalassemic and healthy participants.

Reticulocyte isolation from peripheral blood is crucial for hematological research. Here, we present a protocol for high-quality reticulocyte enrichment from small blood quantities obtained from alpha-thalassemic and healthy participants. We describe steps for Ficoll and Percoll gradient centrifugation to obtain a reticulocyte-enriched fraction, followed by negative immunomagnetic separation to remove granulocytes and platelets.

Hydroxyurea Pharmacokinetic Evaluation in Patients with Sickle Cell Disease.

Hydroxyurea (HU), also known as hydroxycarbamide, is an oral ribonucleotide reductase inhibitor. In 1999, the United States Food and Drug Administration (FDA) approved HU for the treatment of sickle cell disease (SCD). Since then, it has become the cornerstone in the management of SCD patients, helping to reduce vaso-occlusive crises, acute chest syndrome, the need for blood transfusions, hospitalizations and mortality.