Use of murine models for the study of obstructive sleep apnea syndrome in Down syndrome
Rev Mal Respir. 2024 Mar 8:S0761-8425(24)00140-2. doi: 10.1016/j.rmr.2024.02.010. Online ahead of print.ABSTRACTDown syndrome (DS), or trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21, leading to various characteristic physical features as well as developmental and cognitive delays. Obstructive sleep apnea syndrome (OSAS) is a common disorder in both adult and pediatric patients with DS. Several characteristics of DS may contribute to the development or worsening of OSAS. Numerous murine models of DS exist. A number of studies have explored apneas and the risk of upper airway obstr...
Source: Revue des Maladies Respiratoires - March 9, 2024 Category: Respiratory Medicine Authors: M Moreau A Madani R Dard T Bourgeois M-P d'Ortho C Delclaux N Janel B Matrot Source Type: research
Cancers, Vol. 16, Pages 1103: Cancer Risk in Patients with Down Syndrome & mdash;A Retrospective Cohort Study from Germany
Conclusions: Our results could form the basis for future studies to clarify whether and to what extent an adapted screening program needs to be modified for individuals with Down syndrome due to the particular cancer distribution pattern. (Source: Cancers)
Source: Cancers - March 9, 2024 Category: Cancer & Oncology Authors: Sarah Krieg Andreas Krieg Sven H. Loosen Christoph Roderburg Karel Kostev Tags: Article Source Type: research
Trisomy silencing by XIST: translational prospects and challenges
This article combines elements of a review on XIST biology with our perspective on the translational prospects and challenges of XIST transgenics. We first briefly review aspects of XIST RNA basic biology that are key to its translational relevance, and then discuss recent efforts to develop translational utility of XIST for chromosome dosage disorders, particularly Down syndrome (DS). Remarkably, it was shown in vitro that expression of an XIST transgene inserted into one chromosome 21 can comprehensively silence that chromosome and “dosage compensate” Trisomy 21, the cause of DS. Here we summarize recent findings ...
Source: Human Genetics - March 9, 2024 Category: Genetics & Stem Cells Source Type: research
A scoping review highlighting the need for outcomes research in hypoglossal nerve stimulation for patients with Down syndrome
Journal of Clinical Sleep Medicine, Ahead of Print. (Source: Journal of Clinical Sleep Medicine : JCSM)
Source: Journal of Clinical Sleep Medicine : JCSM - March 9, 2024 Category: Sleep Medicine Authors: Ben Holtzlander
Cole Rodman
Shalini Manchanda
Stephanie Stahl
Yelena Chernyak
Mirian Ramirez
Noah P. Parker
1Indiana University School of Medicine
2Department of Otolaryngology-Head & Neck Surgery
3Division of Pulmonary, Critical Care, Sleep, and Occupat Source Type: research
Listening to the voices of mothers in Indonesia: Qualitative content analysis of experiences in parenting children with down syndrome
Generally, mothers provide the majority of caring for children who have Down syndrome. They pose challenges not only with regard to the acceptability of the child situation but also with regard to the provision of care for children with DS. (Source: Journal of Pediatric Nursing)
Source: Journal of Pediatric Nursing - March 7, 2024 Category: Nursing Authors: Muhammad Arsyad Subu, Erika Lubis, Tri Mustikowati, Siswani Marianna, Aliana Dewi, Syintia Hasnah Dewi, Imam Waluyo, Aan Sutandi, Richard Mottershead, Fatma Refaat Ahmed, Jacqueline Maria Dias, Nabeel Al Yateem Source Type: research
Unusual Finding in a Boy with Recurrent Epididymo-Orchitis and Normal External Genitalia
A 1-year-old boy with Down syndrome presented to the emergency department due to his third episode of epididymo-orchitis (EO). He was previously treated with trimethoprim-sulfamethoxazole. His parents reported irritability, fever, and inflammation of the right testis. Scrotal examination revealed an enlarged, tender right testicle without overlying skin changes, hypospadias, or cryptorchidism. Testicular ultrasound showed signs suggestive of right EO, and urine culture was positive for Pseudomonas Aeruginosa. (Source: Urology)
Source: Urology - March 6, 2024 Category: Urology & Nephrology Authors: Julio C ésar Moreno-Alfonso, María San Basilio Berenguer, Borja Nava, Virginia Amesty, Roberto Lobato, María José Martínez Urrutia, Pedro López Pereira, Susana Rivas Vila Source Type: research
Validation of factor structure of the neurodevelopmental parent report for outcome monitoring in down syndrome: confirmatory factor analysis
DiscussionThe ND-PROM has a desirable factor structure and is a valid and clinically useful tool that captures a range of distinct and independent areas of developmental and behavioral functioning in DS, for individuals with and without an ASD diagnosis. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - March 5, 2024 Category: Psychiatry Source Type: research
Trisomy 21 Alters Cell Proliferation and Migration of iPSC-Derived Cardiomyocytes on Type VI Collagen
CONCLUSIONS: These results suggest that the increased expression of COLVI in DS may result in lower migration-driven elongation of endocardial cushions stemming from lower cell proliferation and migration, possibly contributing to the high incidence of CHD in the DS population.SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12195-023-00791-x.PMID:38435791 | PMC:PMC10901762 | DOI:10.1007/s12195-023-00791-x (Source: Molecular Medicine)
Source: Molecular Medicine - March 4, 2024 Category: Molecular Biology Authors: Rachel S Reeser Alyssa K Salazar Kendra M Prutton James R Roede Mitchell C VeDepo Jeffrey G Jacot Source Type: research
Trisomy 21 Alters Cell Proliferation and Migration of iPSC-Derived Cardiomyocytes on Type VI Collagen
CONCLUSIONS: These results suggest that the increased expression of COLVI in DS may result in lower migration-driven elongation of endocardial cushions stemming from lower cell proliferation and migration, possibly contributing to the high incidence of CHD in the DS population.SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12195-023-00791-x.PMID:38435791 | PMC:PMC10901762 | DOI:10.1007/s12195-023-00791-x (Source: Molecular Medicine)
Source: Molecular Medicine - March 4, 2024 Category: Molecular Biology Authors: Rachel S Reeser Alyssa K Salazar Kendra M Prutton James R Roede Mitchell C VeDepo Jeffrey G Jacot Source Type: research
GSE260583 SARS-CoV-2 infection causes heightened disease severity and mortality in a mouse model of Down syndrome
Contributors : Roger D Pechous ; Priyangi A Malaviarachchi ; Zhuo Xing ; Avrium Douglas ; Samantha D Crane ; Hayley M Theriot ; Zijing Zhang ; Alireza Ghaffrieh ; Lu Huang ; Yuejijng E Yu ; Xuming ZhangSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusRecent epidemiological studies suggest that individuals with Down syndrome are more susceptible to SARS-CoV-2 infection and have higher rates of hospitalization and mortality than the general population. However, the main drivers behind these disparate health outcomes remain unknown. Herein we performed experimental infections with S...
Source: GEO: Gene Expression Omnibus - March 4, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
