Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach.

The most common genetic cause of intellectual disability is Down syndrome (DS), trisomy 21. It commonly results from three copies of human chromosome 21 (HC21). There are no mutations or deletions involved in DS. Instead, the phenotype is caused by altered transcription of the genes on HC21. These transcriptional variations are responsible for a myriad of symptoms affecting every organ system. A very debilitating aspect of DS is intellectual disability (ID). Although tremendous advances have been made to try and understand the underlying mechanisms of ID, there is a lack of a unified, holistic view to defining the cause and managing the cognitive impairments. In this literature review, we discuss the mechanisms of neuronal over-inhibition, abnormal morphology, and other genetic factors in contributing to the development of ID in DS patients and to gain a holistic understanding of ID in DS patients. We also highlight potential therapeutic approaches to improve the quality of life of DS patients.

Factors influencing the prevalence of polycystic ovary syndrome (PCOS) in the United Arab Emirates.

Statistics indicate that at least 20-25% of women suffer from PCOS in the Gulf region. Despite its prevalence and negative implications on reproductive, metabolic, and physiological heath the exact cause of PCOS is unknown, in part due to the diversity of symptoms manifested by this disorder. In this review, we investigate causes of PCOS globally and draw on these studies, to determine the potential contributing factors for PCOS pathogenesis in the UAE population. The most frequently identified factors promoting PCOS pathogenesis that may be pertinent to this population include physiological factors such as insulin resistance, vitamin D deficiency, genetic factors, obesity, and anti-mullerian hormone (AMH) levels in the body as well as environmental factors such as air pollution, endocrine disrupting chemicals, and pesticide use. This evidence will help inform healthcare workers and government agencies to set up optimal guidelines for control and awareness of PCOS in the UAE.