Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental. Our approach using complementary RNA-seq and targeted long-read DNA sequencing can prioritize identification of non-coding variants that lead to disease via alteration of gene splicing or expression. We have identified a patient with primary ciliary dyskinesia with a pathogenic coding variant on one allele of the SPAG1 gene, while the second allele appears normal by whole exome sequencing despite an autosomal recessive inheritance pattern.

Glucosylsphingosine (Lyso-Gb): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

Historically, disease burden and treatment responses in patients with Gaucher disease (GD) was assessed by monitoring clinical data, laboratory, imaging, chitotriosidase (CHITO), and other biomarkers; however, these biomarkers lack specificity and CHITO is uninformative in patients heterozygous or homozygous for the c.1049_1072dup24 variant. Recently, glucosylsphingosine (lyso-Gb), a sensitive and specific GD biomarker, has been recommended for patient monitoring.

Health risk associated with pesticide residues in vegetables from Incheon region of Korea.

This study was conducted to investigate the pesticide residue concentrations and assess potential human health risks from vegetable consumption in Incheon. A total of 960 samples were collected from the Incheon areas of Korea in 2019. The pesticide residues were analyzed by the multi-residue method of the Korean Food Code for 373 different pesticides using GC-MS/MS, LC-MS/MS, GC-ECD/NPD, and HPLC-UVD.

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.

Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history.

A web-based intervention to increase weight loss treatment initiation: results of a cluster randomized feasibility and acceptability trial.

Evidence-based behavioral weight loss treatment is under-utilized. To increase initiation of treatment, we developed a single-session, online, primary care-based intervention ("mobilization tool"). We evaluated the mobilization tool's acceptability for primary care patients with obesity, trial design feasibility, and signal of an effect of the tool on treatment initiation.

Perceived barriers and facilitators of initiation of behavioral weight loss interventions among adults with obesity: a qualitative study.

Background: Evidence-based behavioral weight loss interventions are under-utilized. To inform efforts to increase uptake of these interventions, it is important to understand the perspectives of adults with obesity regarding barriers and facilitators of weight loss intervention initiation.

Methods: We conducted a qualitative study in adults with obesity who had recently attempted weight loss either with assistance from an evidence-based behavioral intervention (intervention initiators) or without use of a formal intervention (intervention non-initiators).

Odor-identity dependent motor programs underlie behavioral responses to odors.

All animals use olfactory information to perform tasks essential to their survival. Odors typically activate multiple olfactory receptor neuron (ORN) classes and are therefore represented by the patterns of active ORNs. How the patterns of active ORN classes are decoded to drive behavior is under intense investigation.

Retroperitoneal hematoma after coil embolization of cerebral aneurysm -A case report-.

We present the case of a 57-year-old man who developed retroperitoneal hemorrhage due to unintentional arterial puncture during femoral artery cannulation for Guglielmi detachable coil embolization. On emergence from anesthesia, he developed severe hypotension. Computed tomographic angiogram of the abdomen showed retroperitoneal hematomas around the urinary bladder, liver, and spleen.

BROTHER OF FT AND TFL1 (BFT) has TFL1-like activity and functions redundantly with TFL1 in inflorescence meristem development in Arabidopsis.

The FLOWERING LOCUS T (FT)/TERMINAL FLOWER 1 (TFL1) family is a small gene family that encodes important regulators that control flower development in Arabidopsis. Here, we investigated the biological role of the product of BROTHER OF FT AND TFL1 (BFT), a member of this family, whose function remains unknown. Comparison of the critical residues that play a role in distinguishing FT- or TFL1-like activity revealed that BFT is more similar to FT.

Loss of beta-catenin impairs the renewal of normal and CML stem cells in vivo.

A key characteristic of stem cells and cancer cells is their ability to self-renew. To test if Wnt signaling can regulate the self-renewal of both stem cells and cancer cells in the hematopoietic system, we developed mice that lack beta-catenin in their hematopoietic cells. Here we show that beta-catenin-deficient mice can form HSCs, but that these cells are deficient in long-term growth and maintenance.

The Drosophila lymph gland as a developmental model of hematopoiesis.

Drosophila hematopoiesis occurs in a specialized organ called the lymph gland. In this systematic analysis of lymph gland structure and gene expression, we define the developmental steps in the maturation of blood cells (hemocytes) from their precursors. In particular, distinct zones of hemocyte maturation, signaling and proliferation in the lymph gland during hematopoietic progression are described.

A Serrate-expressing signaling center controls Drosophila hematopoiesis.

The differentiation of Drosophila blood cells relies on a functional hierarchy between the GATA protein, Serpent (Srp), and multiple lineage-specific transcription factors, such as the AML1-like protein, Lozenge (Lz). Two major branches of Drosophila hematopoiesis give rise to plasmatocytes/macrophages and crystal cells. Serrate signaling through the Notch pathway is critical in the regulation of Lz expression and the specification of crystal cell precursors, thus providing a key distinction between the two lineages.