ABSTRACT
OBJECTIVE: The evaluation of quantitative fluorescence PCR (QF-PCR) and single nucleotide polymorphism array (SNP array) analysis for the identification of chromosomal abnormalities in products of conception (POC). MATERIALS AND METHODS: A total of 1,094 POC samples were processed at Gennet in the years 2018-2020. Chromosomal aneuploidies were tested by QF-PCR using a Omnibor set (STR markers 13, 18, 21, X a Y), SAB-I set (STR markers 2, 7, 15, 16, 22), SAB-II set (from November 2019, STR markers 4, 6, 14) followed by SNP array analysis (Illumina) on samples with a negative QF-PCR result. All POC samples were tested for maternal contamination. RESULTS: After exclusion of maternal contamination (32% samples) the total number of 742 POC samples were tested by QF-PCR. Chromosomal aneuploidies were found in 273 POC samples (36.8%). Then, 469 QF-PCR negative POC samples were tested by SNP array analysis. Normal female/male profile was confirmed in 402 samples (85.7%) and chromosomal aneuploidies and chromosomal aberrations (deletion/duplication > 10 Mb) in 51 samples (10.9%). Microdeletion/microduplication was found in 16 POC samples (3.4%), two were classified as pathogenic variants and 14 as variants of unknown significance. In a group of women > 35 years of age, statistically significant increase of the chromosomal abnormalities was confirmed. No statistically significant difference between the in vitro fertilization group and the group of spontaneous conception was found. CONCLUSION: The application of the molecular work-up based on the stepwise use of QF-PCR and SNP array clarifies the cause of the abortion in 43% POC samples. The overall detection rate in the I. trimester was 50.4%.
Subject(s)
Aborted Fetus , Prenatal Diagnosis , Aneuploidy , Chromosome Aberrations , Female , Humans , Male , Polymerase Chain Reaction , PregnancyABSTRACT
The aim of this study was to identify relationships in children between responses to specific questions of interest in a clinical questionnaire concerning swallowing-related difficulties and pathological signs on a videofluoroscopic swallowing study (VFSS). A prospective data analysis was made of children evaluated with swallowing disorder between January 2018 and April 2021 at a tertiary care centre. Each child enrolled in the study underwent a subjective evaluation (targeted questions) and instrumental examination (VFSS). In total, 51 children suffering from swallowing problems (32 with a neurological disorder and 19 without neurological disorder) were included into the study. Our results showed there was a correlation between the occurrence of specific symptoms (wet voice, wet breathing, recurrent respiratory infections, chronic mucus) and other pathological signs on a VFSS (laryngeal penetration, residua, nasal regurgitation). The evaluation of these specific questions is a reliable and useful method for the management of dysphagia in neonates and infants. It can help us in selecting those patients for which it is appropriate to perform a VFSS.
ABSTRACT
Esophageal atresia remains one of the most challenging congenital anomalies of the newborn. It can occur with or without tracheoesophageal fistula (TEF), and to date, there are still no universally recommended diagnostic procedures. The so-called H-type TEF is that without esophageal atresia, and its prevalence is lower than 5% of all TEFs. We present a case report of a newborn with regurgitation, vomiting, feeding problems, dyspnea, and repeated aspiration bronchopneumonia. A wide range of diagnostics procedures had been performed with negative results until we used videofluoroscopy, which revealed the H-type TEF and allowed appropriate treatment of the patient.
ABSTRACT
Nickel is a metal that can be present in products containing hardened edible oils, possibly as leftover catalyst from the vegetable oil hardening process. Nickel may cause toxic effects including the promotion of cancer and contact allergy. In this work, nickel content was determined in hydrogenated vegetable fats and confectionery products, made with these fats, available on the Czech market using newly developed method combining microwave digestion and graphite furnace AAS. While concentrations of 0.086±0.014mg.kg(-1) or less were found in hydrogenated vegetable fats, the Ni content in confectionery products was significantly higher, varying between 0.742±0.066 and 3.141±0.217mg.kg(-1). Based on an average consumer basket, daily intake of nickel from vegetable fats is at least twice as low as intake from confectionery products. Based on results, the levels of nickel in neither vegetable fats nor confectionery products, do not represent a significant health risk.
