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• Phenotypic association exist between copy number variant syndromes (CNVs) mediated neurocognitive deficits(NCDs) and congenital heart defects(CHDs), in the absence of surgical intervention. • The size of the CNV is associated with the severity of NCDs and number of CHDs, with no gender bias. • CHDs are often co-morbid with cognitive deficits and specific CHDs are associated with severe neurocognitive deficits. • Current standards of care do not encompass comorbidity of these phenotypes; potentially leading to underprovided clinical management and treatment. Copy number variant (CNV) syndromes are often associated with both neurocognitive deficits (NCDs) and congenital heart defects (CHDs). Children and adults with cardiac developmental defects likely to have NCDs leading to increased risk of hospitalisation and reduced level of independence. To date, the association between these two phenotypes have not been explored in relation to CNV syndromes. In order to address this question, we systematically reviewed the prevalence of CHDs in a range of CNV syndromes associated with NCDs. A meta-analysis showed a relationship with the size of CNV and its association with both NCDs and CHDs, and also inheritance pattern. To our knowledge, this is the first review to establish association between NCD and CHDs in CNV patients, specifically in relation to the severity of NCD. Importantly, we also found specific types of CHDs were associated with severe neurocognitive deficits. Finally, we discuss the implications of these results for patients in the clinical setting which warrants further exploration of this association in order to lead an improvement in the quality of patient's life. [ABSTRACT FROM AUTHOR]

Cartilage derived stem/progenitor cells (CSPCs) have been isolated from a variety of cartilage sources and are suggested to have high chondrogenic potential. However, their role in cartilage engineering has not been well described, in particular, compared to other more widely used cell types such as differentiated chondrocytes and nontissue-specific mesenchymal stem cells (MSCs). The authors performed a systematic review of literature according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines [Web of Science (Web of Science Core Collection, BIOSIS Citation Index, KCI-Korean Journal Database, MEDLINE, SciELO Citation Index), PubMed, and Embase] from January 1947 to November 2017, to evaluate CSPC isolation, their characterization, and cartilage regeneration. Two investigators independently reviewed all studies and extracted the data against standardized inclusion/exclusion criteria. A total of 1189 studies were identified, 65 of which met the inclusion criteria, consisting of 69 reports on CSPC isolation from articular (n = 35), intervertebral disk (11), auricular (n = 10), meniscal (n = 5), nasoseptal (n = 5), tracheal (n = 2), and costal (n = 1) cartilages. Despite the heterogeneity in isolation methods, 75% of studies found CSPCs to have trilineage differentiation potential, with consistent but nonspecific cell surface marker expression profiles, being positive for the recognized MSC markers CD90, CD105, CD44, CD166, CD73, and CD29 and negative for hematopoietic markers CD34 and CD45. Four cartilage regenerative outcomes were assessed: chondrogenic gene and protein expression (quantitative polymerase chain reaction, histology, immunohistochemistry, and biochemistry), imaging and structural characterization (gross appearance, scanning electron microscopy, and transmission electron microscopy) and biomechanical testing. CSPCs have been used for cartilage repair in animal models with excellent outcomes that are comparable to chondrocytes and superior to MSCs from unrelated tissue sources. The current review concludes that CSPCs represent a promising cell source for cartilage tissue engineering, but there is currently no consensus on specific cell surface markers or isolation protocols. [ABSTRACT FROM AUTHOR]