DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

New genera and new species of Catenulaceae (Bacillariophyta) from Coral Reef habitat of two Indonesia islands-Bawean and Sulawesi-A morphological approach.

Indonesia is listed as a region with high marine biodiversity, especially when considering the three large tropical ecosystems: seagrass beds, mangroves and coral reefs. It is likely that the biodiversity of diatoms in this area is also high. Samples for this research were taken from the remote area of Bawean Island and Tomini Gulf in Central Sulawesi.

Guided Imagery and Other Complementary Pain Control Approaches for Critical Care Patients.

For centuries, pharmacologic interventions have been the primary intervention for pain in intensive care patients. Opioid use has significant side effects and long-term risks including addiction and loss of life. Critical care nurses and other health care professionals can include effective nonpharmacological complementary modalities to reduce pain.

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.

Metachromatic leukodystrophy (MLD) is a rare neurodegenerative lysosomal storage disease resulting from bi-allelic pathogenic variants in the ARSA gene. MLD is distinguished clinically based on the age of onset into late-infantile, juvenile, and adult. The late-infantile type is the most severe phenotype presenting with hypotonia, weakness, gait abnormalities, which progresses to mental and physical decline leading to early death.