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Ultrasound in Obstetrics & Gynecology :... Apr 2016Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of fetal RAA without intracardiac abnormalities (ICA) to guide postnatal management.
METHODS
In the retrospective cohort part of our study, outcome measures were rates of chromosomal abnormalities, 22q11.2 deletion, fetal extracardiac abnormalities (ECA), postnatal ICA and ECA, and symptoms of and surgery for vascular ring. A systematic review and meta-analysis was also performed; results are reported as proportions. Kaplan-Meier analysis of vascular ring cases with surgery as endpoint was performed.
RESULTS
Our cohort included 86 cases; 41 had a vascular ring. Rates of chromosomal abnormalities, 22q11.2 deletion and fetal ECA were 14.1%, 6.4% and 17.4%, respectively. Sixteen studies including our cohort (312 fetuses) were included in the systematic review. Overall rates of chromosomal abnormalities and 22q11.2 deletion were 9.0% (95% CI, 6.0-12.5%) and 6.1% (95% CI, 3.6-9.3%), whilst the respective rates for cases with no ECA were 4.6% (95% CI, 2.3-7.8%) and 5.1% (95% CI, 2.4-8.6%). ECA were seen in 14.6% (95% CI, 10.6-19.0%) prenatally and in 4.0% (95% CI, 1.5-7.6%) after birth. Postnatal ICA were identified in 5.0% (95% CI, 2.7-7.9%). Rate of symptoms of vascular rings (follow-up ≥ 24 months postpartum) was 25.2% (95% CI, 16.6-35.0%), and 17.1% (95% CI, 9.9-25.7%) had surgery. Two-year freedom from surgery was 83.0% (95% CI, 74.3-90.1%).
CONCLUSIONS
Fetal RAA without ICA is more frequently associated with ECA than with chromosomal abnormalities. Most cases, however, are isolated. Vascular-ring symptoms occur in about 25% of cases. Postnatal surveillance is required mainly in the first 2 years after delivery.
Topics: Abnormalities, Multiple; Aorta, Thoracic; Aortic Arch Syndromes; Chromosome Aberrations; Cohort Studies; DiGeorge Syndrome; Female; Fetal Diseases; Fetal Heart; Heart Defects, Congenital; Humans; Kaplan-Meier Estimate; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 26643657
DOI: 10.1002/uog.15805 -
Genes Jan 2023Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to... (Review)
Review
Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League Against Epilepsy (ILAE) identified 13 chromosomal disorders associated with epilepsy (CDAE); data regarding SE occurrence in these patients is lacking. A systematic scoping review was conducted to outline current literature evidence about clinical features, treatments, and outcomes of SE in pediatric and adult patients with CDAE. A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, = 20), Ring 20 Syndrome (R20, = 24), and other syndromes ( = 21). Non-convulsive status epilepticus (NCSE) is frequently observed in AS and R20. No specific, targeted therapies for SE in CDAE are available to date; anecdotal reports about SE treatment are described in the text, as well as various brief- and long-term outcomes. Further evidence is needed to precisely portray the clinical features, treatment options, and outcomes of SE in these patients.
Topics: Adult; Humans; Child; Status Epilepticus; Epilepsy; Seizures; Chromosome Disorders; Ring Chromosomes
PubMed: 36833226
DOI: 10.3390/genes14020299 -
International Journal of Molecular... Jul 2021Medical staff represent the largest group of workers occupationally exposed to ionizing radiation (IR). Chronic exposure to low-dose IR may result in DNA damage and... (Meta-Analysis)
Meta-Analysis
Medical staff represent the largest group of workers occupationally exposed to ionizing radiation (IR). Chronic exposure to low-dose IR may result in DNA damage and genotoxicity associated with increased risk of cancer. This review aims to identify the genotoxicity biomarkers that are the most elevated in IR-exposed vs. unexposed health workers. A systematic review of the literature was performed to retrieve relevant studies with various biomarkers of genotoxicity. Subsequent meta-analyses produced a pooled effect size for several endpoints. The search procedure yielded 65 studies. Chromosome aberrations (CA) and micronuclei (MN) frequencies were significantly different between IR-exposed and unexposed workers (θ = 3.19, 95% CI 1.46-4.93; and θ = 1.41, 95% CI 0.97-1.86, for total aberrant cells and MN frequencies, respectively), which was not the case for ring chromosomes and nucleoplasmic bridges. Although less frequently used, stable translocations, sister chromatid exchanges (SCE) and comet assay endpoints were also statistically different between IR-exposed and unexposed workers. This review confirms the relevance of CA and MN as genotoxicity biomarkers that are consistently elevated in IR-exposed vs. unexposed workers. Other endpoints are strong candidates but require further studies to validate their usefulness. The integration of the identified biomarkers in future prospective epidemiological studies is encouraged.
Topics: Biomarkers; Chromosome Aberrations; DNA Damage; Dose-Response Relationship, Radiation; Health Personnel; Humans; Occupational Exposure; Radiation, Ionizing
PubMed: 34299125
DOI: 10.3390/ijms22147504