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Acta Obstetricia Et Gynecologica... Jun 2024This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
INTRODUCTION
This study aimed to report the screening performance of cell-free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
MATERIAL AND METHODS
Data were obtained from pregnant women with a multiple pregnancy or a vanishing twin pregnancy at ≥10 weeks' gestation who requested self-financed cfDNA testing between May 2015 and December 2021. Those that had positive screening results had diagnostic confirmatory procedures after counseling and consent. The performance of screening of the cfDNA test was determined by calculating confirmation rate and combined false-positive rate (cFPR).
RESULTS
Data from 292 women were included after exclusion of those lost to follow-up, with no-result on cfDNA testing, or had reductions. Of the 292 pregnancies, 10 (3.4%) were triplets, including no cases of trisomy 21 and trisomy 18; 249 (85.3%) were twins, including 3 cases of trisomy 21 and no cases of trisomy 18 and 13; and 33 (11.3%) were vanishing twins, including 3 cases of trisomy 21 and 1 case of trisomy 18. The median (IQR) maternal age was 34 years (31-37). For triplet pregnancies, the initial no-result rate was 10.3% (95% confidence interval [CI] 3.6-26.4), all with results after redraw. For twin pregnancies, the initial no-result rate was 12.9% (95% CI 9.6-17.0), and the no-result rate after redraw was 1.6% (95% CI 0.7-3.6). For vanishing twins, there were no cases with no-result. All triplets had low-risk cfDNA results. The confirmation rate for trisomy 21 was 100% with a FPR at 0% due to the small number of positive cases for twins. For vanishing twins, one high-risk case for trisomy 21 and the only high-risk case for trisomy 18 were confirmed with a cFPR of 8.3% (n = 2/24; 95% CI 2.3-25.9).
CONCLUSIONS
cfDNA testing in twin pregnancies has sufficient screening performance for trisomy 21 but the number of affected cases for other conditions is limited to draw any meaningful conclusion. The use of cfDNA testing in triplet pregnancies and vanishing twins remains an area for further research.
PubMed: 38924543
DOI: 10.1111/aogs.14901 -
Science Advances Jun 2024Caregiving for disabled individuals among Neanderthals has been known for a long time, and there is a debate about the implications of this behavior. Some authors...
Caregiving for disabled individuals among Neanderthals has been known for a long time, and there is a debate about the implications of this behavior. Some authors believe that caregiving took place between individuals able to reciprocate the favor, while others argue that caregiving was produced by a feeling of compassion related to other highly adaptive prosocial behaviors. The study of children with severe pathologies is particularly interesting, as children have a very limited possibility to reciprocate the assistance. We present the case of a Neanderthal child who suffered from a congenital pathology of the inner ear, probably debilitating, and associated with Down syndrome. This child would have required care for at least 6 years, likely necessitating other group members to assist the mother in childcare.
Topics: Down Syndrome; Humans; Animals; Neanderthals; Child; Female; Male; Child, Preschool
PubMed: 38924400
DOI: 10.1126/sciadv.adn9310 -
Prenatal Diagnosis Jun 2024Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound...
INTRODUCTION
Acute fetal leukemia is rare and characterized by a very poor prognosis. The aims of this study were to identify cases of acute fetal leukemia and to describe ultrasound and fetopathological findings that should lead to a suspicion of this diagnosis, as well as the investigations required to confirm it.
METHODS
A national retrospective study was conducted. Clinical data, prenatal ultrasounds and postmortem findings of fetal acute leukemia cases were collected and analyzed.
RESULTS
We collected seven cases: four in utero fetal deaths, two neonatal deaths and one termination of pregnancy. Prenatal ultrasounds showed fetal hydrops (42.9%) associated with hepatosplenomegaly (100%). In addition, post-mortem examination (n = 6) suggested a Down syndrome in one case and showed other organomegaly (83.3%) due to blastic infiltration, mainly in the liver, along with extrahepatic multivisceral hematopoiesis. Immunostainings allowed to specify the type of leukemia (71.4%). In one case, diagnosis was made on blood smear and flow cytometry was performed on fresh blood samples. All cases corresponded to acute myeloid leukemia. Karyotype was abnormal in 4 cases (66.7%), including one free trisomy 21, two mosaic trisomy 21 and one chromosome 15 deletion. GATA1 gene mutations were identified in two cases: one mosaic trisomy 21 and one with normal karyotype.
CONCLUSION
Any hepatosplenomegaly associated with fetal hydrops and a negative immune, infectious, and metabolic work-up, should suggest acute fetal leukemia and prompt additional investigations.
PubMed: 38923613
DOI: 10.1002/pd.6630 -
The Laryngoscope Jun 2024Hypoglossal nerve stimulation (HGNS) is an effective therapy for carefully selected pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), but...
INTRODUCTION
Hypoglossal nerve stimulation (HGNS) is an effective therapy for carefully selected pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), but optimization of device settings has been focused on stimulation settings. The potential benefits of sensing lead setting optimization have not been investigated. We describe a series of three cases of HGNS in children with DS where optimization of both the stimulation lead and sensing lead settings, as well as utilization of drug-induced sleep endoscopy (DISE), when indicated, was more effective than stimulation lead optimization alone.
METHODS
Using our novel titration algorithm, among the three identified pediatric patients with DS in whom HGNS initially failed to reduce the apnea-hypopnea index (AHI), two patients in whom sleep studies were characterized as hypopnea-dominant were assigned to advanced titration (optimization of stimulation settings and sensing lead settings). The third patient, with an obstructive apnea-dominant sleep study, was referred for interrogated DISE. Advanced titration included adjustment of both stimulation settings and sensing lead settings.
RESULTS
Application of the advanced titration algorithm, tailored to obstructive apnea- versus hypopnea-dominant sleep patterns, resulted in approximately 50% or greater reduction in AHI in all three patients. "Normal to mild OSA" AHI (AHI <5) was achieved in two patients.
CONCLUSIONS
A novel diagnostic and therapeutic titration algorithm for the Inspire HGNS system significantly reduced AHI in three pediatric patients with DS and OSA who had failed to respond to the standard device titration that focused solely on stimulation settings.
LEVEL OF EVIDENCE
4 Laryngoscope, 2024.
PubMed: 38922916
DOI: 10.1002/lary.31600 -
Case Reports in Dentistry 2024Managing dental care in children with special health care needs poses distinct challenges. This case report explores these challenges within the context of a 9-year-old...
BACKGROUND
Managing dental care in children with special health care needs poses distinct challenges. This case report explores these challenges within the context of a 9-year-old boy with Down syndrome (DS) facing dental treatment refusal. Over ten months and 13 visits, a tailored approach was devised for the patient who presented with multiple cavities and retained primary teeth. Key strategies included gradually introducing dental procedures, including tooth brushing, intraoral examination, tooth preparation, extraction, and myofunctional therapy. Behaviour guidance techniques include tell-show-do, desensitization, positive reinforcement, and close collaboration between dental professionals and the patient's mother. This methodical approach helped overcome the child's initial refusal without sedation or general anaesthesia, facilitating successful dental care.
CONCLUSION
This case emphasizes the effectiveness of patient-centred strategies and detailed communication in pediatric dentistry for children with DS, providing valuable insights for managing similar challenges in dental care.
PubMed: 38919976
DOI: 10.1155/2024/2966972 -
Iranian Journal of Public Health Mar 2024Most of the people with Down syndrome have short stature compared to general population. There is also a high prevalence of overweight and obesity, mainly in the...
BACKGROUND
Most of the people with Down syndrome have short stature compared to general population. There is also a high prevalence of overweight and obesity, mainly in the adolescence and in the adult life. The aim of this study was to compare some anthropometric parameters, heart rate and blood pressure of children with Down syndrome and those with normal development. Down syndrome is among the most commonly classified categories of mental sub normality, with the incidence at birth being around 1: 700 and 1: 750 in live births in most countries worldwide, with the risk of increasing with mother's age.
METHODS
The sample consisted of 82 children, 32 with Down syndrome and 50 healthy children, male, aged 14-15 yr from the population of Kosovo in 2022. There were no health problems present in the healthy children.
RESULTS
About 53% of children with Down syndrome have normal body mass, 15.62% are overweight, and 21.8 are obese. In terms of blood pressure, Down syndrome children have higher systolic pressure (121.94mm/hg), sd ±21.69 than healthy children (111.18mm/hg, sd ±10.88).
CONCLUSION
Children with Down syndrome had significantly higher body mass index, heart rate, and systolic pressure at rest compared to healthy children. However, after short physical activity, healthy children exhibited greater diastolic pressure than children with Down syndrome.
PubMed: 38919303
DOI: 10.18502/ijph.v53i3.15140 -
Journal of Community Genetics Jun 2024Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this...
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother's residence health macroregion. The CAs were selected following the ICD-10 coding for chapter XVII. Birth prevalence was calculated per 10,000 live births and the confidence interval was established at 95%. 2011-2019 recorded 88.8/10,000 births with CAs (total). For 2011-2019, limb defects (without polydactyly) were the most prevalent (14.1/10,000), followed by congenital heart defects (8.9), oral clefts (8.2), polydactyly (7.9), Down syndrome (5.6), hypospadias (5.4), neural tube defects (4.7), gastroschisis (3.3), undefined sex (1.2), microcephaly (0.8) and omphalocele (0.3). There were no significant differences in temporal and spatial distribution. However, unusual fluctuations were observed in 2020, which may reflect the pandemic in CAs notifications. In the base period, Santa Catarina recorded CAs below the expected level of being identified at birth. With this, we conclude that the training and awareness of teams are essential for the surveillance of CAs in Santa Catarina.
PubMed: 38918275
DOI: 10.1007/s12687-024-00716-9 -
Fish & Shellfish Immunology Jun 2024C-type lectins (CTLs) are an important class of pattern recognition receptors (PRRs) that exhibit structural and functional diversity in invertebrates. Repetitive DNA...
C-type lectins (CTLs) are an important class of pattern recognition receptors (PRRs) that exhibit structural and functional diversity in invertebrates. Repetitive DNA sequences are ubiquitous in eukaryotic genomes, representing distinct modes of genome evolution and promoting new gene generation. Our study revealed a new CTL that is composed of two long tandem repeats, abundant threonine, and one carbohydrate recognition domain (CRD) in Exopalaemon carinicauda and has been designated EcTR-CTL. The full-length cDNA of EcTR-CTL was 1242 bp long and had an open reading frame (ORF) of 999 bp that encoded a protein of 332 amino acids. The genome structure of EcTR-CTL contains 4 exons and 3 introns. The length of each repeat unit in EcTR-CTL was 198 bp, which is different from the short tandem repeats reported previously in prawns and crayfish. EcTR-CTL was abundantly expressed in the intestine and hemocytes. After Vibrio parahaemolyticus and white spot syndrome virus (WSSV) challenge, the expression level of EcTR-CTL in the intestine was upregulated. Knockdown of EcTR-CTL down-regulated the expression of anti-lipopolysaccharide factor, crustin, and lysozyme during Vibrio infection. The recombinant CRD of EcTR-CTL (rCRD) could bind to bacteria, lipopolysaccharides, and peptidoglycans. Additionally, rCRD can directly bind to WSSV. These findings indicate that 1) CTLs with tandem repeats may be ubiquitous in crustaceans, 2) EcTR-CTL may act as a PRR to participate in the innate immune defense against bacteria via nonself-recognition and antimicrobial peptide regulation, and 3) EcTR-CTL may play a positive or negative role in the process of WSSV infection by capturing virions.
PubMed: 38917950
DOI: 10.1016/j.fsi.2024.109721 -
Journal of Experimental Child Psychology Jun 2024There is convincing evidence that training spatial abilities leads to improved mathematics performance in typically developing (TD) children. However, a lack of...
There is convincing evidence that training spatial abilities leads to improved mathematics performance in typically developing (TD) children. However, a lack of information on mathematical development and spatial-mathematical associations in people with Down syndrome (DS) hinders the translation of these interventions. Here, we established developmental trajectories of mathematics and explored whether spatial ability predicts attainment on different mathematics measures in individuals with DS. Participants with DS (n = 36; ages 9-35 years) and TD children (n = 132; ages 4-11 years) completed three groups of tasks: spatial tasks assessing different subdomains of spatial thinking; mathematics tasks assessing early mathematics skills, mathematical reasoning, arithmetic, and geometry; and IQ tasks. The developmental trajectories of mathematics performance against mental age revealed similar starting points of the trajectories and similar rates of development for DS and TD groups. Furthermore, after controlling for verbal skills, spatial skills explained 5.8% to 18.1% of the variation in mathematical performance across different mathematics tasks, and the pattern of spatial-mathematical relations was similar for DS and mental age-matched TD groups. This shows that mathematical development in DS groups appears to mirror that in TD children, indicative of delay only. Strong spatial-mathematical relations were observed for individuals with DS, like those seen for TD participants. This is the vital preliminary knowledge needed to support the design and use of spatial intervention for improving mathematics in individuals with DS.
PubMed: 38917683
DOI: 10.1016/j.jecp.2024.105986 -
Biochemistry and Cell Biology =... Jun 2024In atherosclerosis, DNA methylation plays a key regulatory role in the expression of related genes. However, the molecular mechaism of these processes in HUVECs are...
In atherosclerosis, DNA methylation plays a key regulatory role in the expression of related genes. However, the molecular mechaism of these processes in HUVECs are unclear. Here, using high-throughput sequencing from the Infinium HumanMethylation450 assay, we manifested that the cg19564375 methylation of miR-520e promoter region in the peripheral blood of acute coronary syndrome (ACS) patients was higher than that of healthy controls. As shown by RQ-MSP, the upstream DNA methylation level of the miR-520e promoter region was considerably increased in ACS patients. miR-520e was markedly down-regulated in ACS patients compared with healthy controls. In the ox-LDL-induced HUVECs injury model, DNA methylation of the upstream region of miR-520e was significantly increased. With increasing concentrations of the methylase inhibitor 5-Aza, miR-520e expression was upregulated. The silence of methyltransferase DNMT1, rather than DNMT3a or DNMT3b, abolished the influence of miR-520e expression by ox-LDL treatment in HUVECs. A dual luciferase reporter assay revealed that miR-520e regulated the TGFBR2 3'-UTR region. After silencing TGFBR2, the promoting effect of miR-520e inhibitor on cell proliferation and migration may be attenuated. In conclusion, the expression of miR-520e is modified by its promoter region DNA methylation, and miR520e and its promoter region DNA methylation may be potential biomarkers in atherosclerosis.
PubMed: 38917487
DOI: 10.1139/bcb-2023-0326