Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.

Background: While BRCA1/2 gene mutational spectrum and clinical features are widely studied, there is limited data on breast cancer-predisposing non-BRCA pathogenic/likely pathogenic variants (PV/LPVs) in the Baltic states region. According to previous studies, CHEK2 is the most frequent moderate-risk breast cancer predisposition gene. The study aimed to analyse the frequency and mutational spectrum of CHEK2 PV/LPVs in the Baltic states region and perform a literature review on the subject.

Urinary organic acids spectra in children with altered gut microbiota composition and autistic spectrum disorder.

Alteration of human gut microbiota is described in a number of neuro-developmental and cognitive disorders including autistic spectrum disorder (ASD). Along with the changes in the gut microbiota, children with ASD are also reported to have changes in urinary organic acid spectra implying these metabolites as potential biomarkers for gastrointestinal dysbiosis. Identify urinary metabolites that would indicate specific changes in the gut microbiota and could be useful as biomarkers.

Hypercalcemia and CYP24A1 Gene Mutation Diagnosed in the 2nd Trimester of a Twin Pregnancy: A Case Report.

BACKGROUND Loss-of-function mutations of the CYP24A1 gene cause a deficiency of the CYP24A1 enzyme, which is involved in the catabolism of 1,25-dihydroxyvitamin D3. Patients who are CYP24A1 enzyme deficient are at increased risk of developing hypercalcemia during pregnancy and should avoid additional vitamin D supplementation. This case report provides additional information for managing and diagnosing patients with a CYP24A1 gene mutation.

X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases.

X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency. Affected individuals usually present with the Epstein-Barr virus infection and have no apparent disease prior to presentation. The most common clinical manifestations are fulminant infectious mononucleosis, dysgammaglobulinaemia, and lymphoma (usually of B-cell origin).

Application of the UHPLC-DIA-HRMS Method for Determination of Cheese Peptides.

Until now, cheese peptidomics approaches have been criticised for their lower throughput. Namely, analytical gradients that are most commonly used for mass spectrometric detection are usually over 60 or even 120 min. We developed a cheese peptide mapping method using nano ultra-high-performance chromatography data-independent acquisition high-resolution mass spectrometry (nanoUHPLC-DIA-HRMS) with a chromatographic gradient of 40 min.

Pathogenic Variants in Latvian Familial Adenomatous Polyposis Patients.

Familial adenomatous polyposis is one of the -associated polyposis conditions described as genetically predetermined colorectal polyposis syndrome with a variety of symptoms. The purpose of this study was to determine sequence variants of the gene in patients with familial adenomatous polyposis (FAP) phenotype and positive or negative family history. Eight families with defined criteria of adenomatous polyposis underwent molecular genetic testing.

Allelic variants of breast cancer susceptibility genes and in the Latvian population.

Background: Large-scale case control studies revealed a number of moderate risk - low frequency breast cancer alleles of the and genes. Some of these were reported as founder variants of Central and Eastern Europe. Based on highly similar founder variant spectra of the in Poland and Latvia, we decided to test the frequency of other common variants of moderate breast cancer risk - c.

An Effect of Culture Media on Epithelial Differentiation Markers in Breast Cancer Cell Lines MCF7, MDA-MB-436 and SkBr3.

Cell culture is one of the mainstays in the research of breast cancer biology, although the extent to which this approach allows to preserve the original characteristics of originating tumor and implications of cell culture findings to real life situations have been widely debated in the literature. The aim of this study was to determine the role of three cell culture media on transcriptional expression of breast cancer markers in three breast cancer reference cell lines (MCF7, SkBr3 and MDA-MB-436). : Cell lines were conditioned in three studied media (all containing 5% fetal bovine serum (FBS) + hormones/growth factors; different composition of basal media) for four passages.

Chromothripsis and progression-free survival in metastatic colorectal cancer.

Metastatic dissemination of the primary tumor is the major cause of death in colorectal cancer (CRC) patients. Multiple chromosomal breaks and chromothripsis, a phenomenon involving multiple chromosomal fragmentations occurring in a single catastrophic event, are associated with cancer genesis, progression and developing of metastases. The aim of this study was to evaluate the effect of chromothripsis and total breakpoint count (breakpoint instability index) on progression-free survival (PFS).