Surveillance of multiple congenital anomalies; searching for new associations

\ua9 2023, The Author(s).Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008–2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the p value was estimated using a two-sided Fisher’s exact test. The Benjamini–Hochberg procedure adjusted p values to control the false discovery rate and pairs of anomalies with adjusted p values < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered “potential new associations” by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation

Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies

Purpose This article provides a review of the transcriptomic expression profiling studies that have been performed on meningiomas so far. We discuss some future prospects and challenges ahead in the field of gene expression profiling. Methods We performed a systematic search in the PubMed and EMBASE databases in May 2010 using the following search terms alone or in combination: “meningioma”, “microarray analysis”, “oligonucleotide array sequence analysis”, or “gene expression profiling”. Only original research articles in English that had used RNA hybridized to high-resolution microarray chips to generate gene expression profiles were included. Results We identified 13 articles matching the inclusion criteria. All studies had been performed during the last decade. Conclusions The main results of the studies can be grouped in three categories: (1) several groups have identified meningioma-specific genes and genes associated with the three WHO grades, and the main histological subtypes of grade I meningiomas; (2) one publication has shown that the general transcription profile of samples of all WHO grades differs in vivo and in vitro; (3) one report provides evidence that microarray technology can be used in an automated fashion to classify tumors. Due to lack of consensus on how microarray data are presented, possible general trends found across the studies are difficult to extract. This could obstruct the discovery of important genes and pathways universally involved in meningioma biology

Surveillance of multiple congenital anomalies; searching for new associations.

Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008-2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the p value was estimated using a two-sided Fisher's exact test. The Benjamini-Hochberg procedure adjusted p values to control the false discovery rate and pairs of anomalies with adjusted p values < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered "potential new associations" by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation

Sickle Cell Trait, Maternal Age and Pregnancy Outcome in Primiparous Women

This study was undertaken to determine whether the age of pregnant Black women with sickle cell trait (AS) influences pregnancy outcome. We retrospectively collected anthropometric, obstetrical and neonatal data from 157 trait and 213 nontrait (AA) lower socioeconomic class, primiparous Black women (14 to 28 years of age) who had delivered at our medical center. These groups were subdivided into adolescents (14-16 years) and adults (17-28 years) for purposes of statistical compari­son. No differences in general body size were found but AS women in general had higher rates of contracted pelves than their AA peers (statistically significant for adults). Also adult AS women had neonates with significantly lower mean birth weights than adult AA wome

DUPLICATION OF THE SHORT ARM OF THE X-CHROMOSOME IN MOTHER AND DAUGHTER

An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter --> p22.3 = p22.3 --> cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11 % of her lymphocytes the duplicated X was active

ВРОДЖЕНІ ВАДИ РОЗВИТКУ, ПОЛІССЯ, ЧОРНОБИЛЬ

Rivne Polissia inhabitants constitute a population that was most influenced by chronic ionizing radiation due to the Chornobyl disaster. The aim of our investigation was to establish population rates of some congenital anomalies (CA) in Rivne Region during 2000-2014 and their contrasts within the Rivne Region (Polissia vs. non-Polissia), as well as to analyze probable etiological factors.Население Ровенского Полесья - популяция, потерпевшая от влияния хронического облучения ионизирующей радиации в результате Чернобыльской катастрофы. Целью нашего исследования было определить популяционные частоты врожденных пороков развития (ВПР) в Ровенской области за 2000 - 2014 гг. и их отличия в Полесском и не-Полесском регионах области, провести анализ вероятных этиологических факторов.Населення рівненського Полісся - популяція, що найбільше зазнала хронічного опромінення іонізуючою радіацією внаслідок Чорнобильської катастрофи. Метою нашого дослідження було визначити популяційні частоти вроджених вад розвитку (ВВР) у Рівненській області за 2000- 2014 рр. та їх контрасти у поліському та не-Поліському регіонах області, провести аналіз ймовірних етіологічних факторів.