Axillary Response in Patients Undergoing Neoadjuvant Endocrine Treatment for Node-Positive Breast Cancer: Systematic Literature Review and NCDB Analysis.

Background: Several studies have proven that neoadjuvant endocrine therapy (NET) has a similar beneficial therapeutic effect in estrogen-positive (ER) breast cancer (BC) with improved breast conservation rate in patients undergoing NET versus neoadjuvant chemotherapy (NAC). The impact of axillary complete pathologic response (pCR) is less clear. We evaluate the impact of NET on axillary downstaging and surgical management.

Partial Breast Reconstruction with Goldilocks Technique After Excision of Giant Fibroadenoma: A Case Report.

Giant juvenile fibroadenomas are relatively rare, accounting for less than 1% fibroadenomas. Large breast tumors create significant asymmetry and provide unique reconstructive challenges after removal. In this case, we describe a 21-year-old female with delayed presentation of a giant fibroadenoma of the right breast.

The asthma candidate gene NPSR1 mediates isoform specific downstream signalling.

Background: Neuropeptide S Receptor 1 (NPSR1, GPRA, GPR154) was first identified as an asthma candidate gene through positional cloning and has since been replicated as an asthma and allergy susceptibility gene in several independent association studies. In humans, NPSR1 encodes two G protein-coupled receptor variants, NPSR1-A and NPSR1-B, with unique intracellular C-termini. Both isoforms show distinct expression pattern in asthmatic airways.

Glucocorticoid receptor gene haplotype predicts increased risk of hospital admission for depressive disorders in the Helsinki birth cohort study.

Background: Although glucocorticoid receptors (GR) are involved in mediating hypothalamic-pituitary-adrenal-axis functioning, which is altered in acute depression, data on associations between GR gene (NR3C1) polymorphisms and depression are scarce. We examined if single nucleotide polymorphisms (SNPs) and their haplotypes spanning the entire NR3C1 are associated with depressive disorders and with self-reported depressive symptoms in adulthood.

Methods: We successfully genotyped 10 SNPs spanning the NR3C1, and performed SNP and haplotype analyses in 1,075 women and 928 men participating in the Helsinki birth cohort study.

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.

Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites.

Is the ability to maximally activate the dorsiflexors in men and women affected by indwelling electromyography needles?

Unlabelled: Brown RE, Bruce SH, Jakobi JM. Is the ability to maximally activate the dorsiflexors in men and women affected by indwelling electromyography needles?

Objectives: To determine whether maximal force is similar between conditions with and without a microelectrode, and to evaluate potential sex differences when using invasive procedures.

Design: Crossover trial.

ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses.

Viral infections and abnormal host response are thought to cause epithelial injury in idiopathic pulmonary fibrosis (IPF). To understand IPF pathogenesis, we have used overexpression cell models and expression microarrays to discover genes networked with ELMO domain containing 2 (ELMOD2) gene genetically implicated in IPF. The identified pathways were confirmed in vitro, and ELMOD2 protein expression was characterized in tissue samples.

Transcriptome profiling of human pre-implantation development.

Background: Preimplantation development is a crucial step in early human development. However, the molecular basis of human preimplantation development is not well known.

Methodology: By applying microarray on 397 human oocytes and embryos at six developmental stages, we studied the transcription dynamics during human preimplantation development.

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

Background: Silver-Russell syndrome (SRS, OMIM 180860) features fetal and postnatal growth restriction and variable dysmorphisms. Genetic and epigenetic aberrations on chromosomes 7 and 11 are commonly found in SRS. However, a large fraction of SRS cases remain with unknown genetic aetiology.

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.

Context: The H19 imprinting control region (ICR), located on chromosome 11p15.5, has been reported hypomethylated in 20-65% of Silver-Russell syndrome (SRS) patients.

Objective: We investigated the methylation status of 11p15.

Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases.

Neuropeptide S receptor 1 (NPSR1, GPRA 154, GPRA) has been verified as a susceptibility gene for asthma and related phenotypes. The ligand for NPSR1, Neuropeptide S (NPS), activates signalling through NPSR1 and microarray analysis has identified Tenascin C (TNC) as a target gene of NPS-NPSR1 signalling. TNC has previously been implicated as a risk gene for asthma.

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

Background: Epigenetic studies, such as the measurement of DNA methylation, are important in the investigation of syndromes influenced by imprinted genes. Quick and accurate quantification of methylation at such genes can be of appreciable diagnostic aid.

Methods: We first digested genomic DNA with methylation-sensitive restriction enzymes and used DNA without digestion as a control and nonmethylated lambda DNA as an internal control for digestion efficiency.

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease.

Background & Aims: The neuropeptide S receptor (NPSR1) gene has been associated recently with asthma and maps in a region of chromosome 7 previously linked also to inflammatory bowel disease (IBD). NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be up-regulated in inflammation. We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients.

Downstream target genes of the neuropeptide S-NPSR1 pathway.

The neuropeptide S (NPS)-NPS receptor 1 (NPSR1) pathway has recently been implicated in the pathogenesis of asthma. The purpose of this study was to identify downstream gene targets regulated by NPSR1 upon NPS stimulation. A total of 104 genes were found significantly up-regulated and 42 down-regulated by microarray analysis 6 h after NPS administration.

Global gene expression analyses of hematopoietic stem cell-like cell lines with inducible Lhx2 expression.

Background: Expression of the LIM-homeobox gene Lhx2 in murine hematopoietic cells allows for the generation of hematopoietic stem cell (HSC)-like cell lines. To address the molecular basis of Lhx2 function, we generated HSC-like cell lines where Lhx2 expression is regulated by a tet-on system and hence dependent on the presence of doxycyclin (dox). These cell lines efficiently down-regulate Lhx2 expression upon dox withdrawal leading to a rapid differentiation into various myeloid cell types.

Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma.

Rationale: Allergic diseases are influenced by both genes and environment. A 70-kb haplotype block in the G protein-coupled receptor for asthma susceptibility gene (GPR154; alias GPRA) on chromosome 7p was recently identified to influence susceptibility to asthma and elevated total serum IgE levels in adults.

Objectives: To assess the impact of GPR154 on childhood allergic disease, including allergic sensitization, asthma, and rhinoconjunctivitis, in study populations with diverse environmental backgrounds.

Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes.

Background: Evolutionarily conserved sequences within or adjoining orthologous genes often serve as critical cis-regulatory regions. Recent studies have identified long, non-coding genomic regions that are perfectly conserved between human and mouse, termed ultra-conserved regions (UCRs). Here, we focus on UCRs that cluster around genes involved in early vertebrate development; genes conserved over 450 million years of vertebrate evolution.