Pennsylvania House tries anew to ban Down syndrome abortions
Pennsylvania's House of Representatives is launching another effort to outlaw abortions because of a prenatal diagnosis of Down syndrome, although it faces a veto if it even reaches Democratic Gov. Tom Wolf's desk
Publication date: Available online 2 July 2020Source: Journal of Pharmaceutical and Biomedical AnalysisAuthor(s): Ece Özkan, Emirhan Nemutlu, Mehmet Sinan Beksac, Sedef Kır
An amendment to this paper has been published and can be accessed via the original article.
Children with Down syndrome (DS) have lower mortality compared to non-syndromic (NS) children after atrioventricular septal defect (AVSD) repair. Limited data exist regarding hospital mortality and utilization after other congenital heart disease (CHD) operations in DS. We compared hospital mortality and utilization after CHD operations in both populations and hypothesized that the survival benefit in children with DS is not consistent across CHD lesions. The Texas Inpatient Public Use Datafile was queried for all patients
Commentary on "Psychometric Properties of Segmental Assessment of Trunk Control in Infants and Toddlers With Down Syndrome". Pediatr Phys Ther. 2020 Jul;32(3):257 Authors: Martin K, Siebert E PMID: 32604371 [PubMed - as supplied by publisher]
ConclusionCleft Lip and/or Palate and Gastroschisis prevalence were higher than those found in the literature. This findings may suggest a distinct epidemiological behavior regarding major birth defects in the region. The work opens new perspectives for birth defects risk factors in the triple-border.
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes or orthologs, provide insights into better understanding and treatment options. The only existing transchromosomic (Tc) mouse DS model, Tc1, carries a HSA21 with over 50 protein coding genes (PCGs) disrupted. Tc1 is mosaic, compromising interpretation of results. Here, we 'clone' the 34 MB long arm of HSA21 (HSA21q) as a mouse artificial chromosome (MAC). Through multiple steps of microcell-mediated chromosome transfer, we created a new Tc DS mouse model, Tc(HSA21q;MAC)1Yakaz ('TcMAC21'). TcMAC21 is not mosaic and contains 93% of HSA21q PCG...
ConclusionsOur results suggest that, during the adolescent period for males with DS or FXS, there is an increase in the amount of talk produced in conversational contexts, but also a decrease in the quality of the language produced. In addition, our results indicate syndrome-specificity for aspects of expressive language development and reinforce the protective role of family-related factors.
The authors declare no conflicts of interest.
Publication date: 27 June–3 July 2020Source: The Lancet, Volume 395, Issue 10242Author(s): Juan Fortea, Eduard Vilaplana, Maria Carmona-Iragui, Bessy Benejam, Laura Videla, Isabel Barroeta, Susana Fernández, Miren Altuna, Jordi Pegueroles, Víctor Montal, Silvia Valldeneu, Sandra Giménez, Sofía González-Ortiz, Laia Muñoz, Teresa Estellés, Ignacio Illán-Gala, Olivia Belbin, Valle Camacho, Liam Reese Wilson, Tiina Annus
Publication date: 27 June–3 July 2020Source: The Lancet, Volume 395, Issue 10242Author(s): Elizabeth Head, Beau Ances