Chromosomal Duplication Syndromes: A Case Series.

Chromosomal deletion and duplication syndromes can lead to intellectual disability, autism, microcephaly, and poor growth. Usually manifestations of duplication syndromes are milder than that of the deletion syndromes. With the availability of tests for analysis of copy number variants, it is possible to identify the deletion and duplication syndromes with greater ease. We report 32 cases of chromosomal duplication syndromes, identified in children presenting with developmental delay, intellectual disability, or microcephaly and/or additional features, at a tertiary care center on karyotyping or microarray analysis. Seven were isolated duplications, and one child had an additional smaller pathogenic deletion. Thus, duplication syndromes can have milder presentations with spectrum of dysmorphism, behavioral problems, and intellectual disability, but it is possible to diagnose easily with latest emerging high-throughput technologies.

Clinical Profile of Indian Children with Down Syndrome.

This retrospective study was performed on 208 patients with Down syndrome (DS) from heterogeneous ethnic population and admitted under Genetics Metabolic Unit. The aim of the study was to look for phenotypic variability and associated complications in children and adolescents with DS. The average age of the evaluated DS patients was 34 months. Cardiac anomalies were found in 128 (62%) of the 208 cases. Among the cardiac disorders, atrial septal defects accounted for 30% of cases. Other complications observed were hypothyroidism and developmental delay in around 31% cases and neonatal cholestasis in 14% cases. Also, we report two cases with Moya-Moya disease and one case with atlanto-axial dislocation.

Modern Processing of Indian Millets: A Perspective on Changes in Nutritional Properties.

Globally, billions of people are experiencing food insecurity and malnutrition. The United Nations has set a global target to end hunger by 2030, but we are far from reaching it. Over the decade, climate change, population growth and economic slowdown have impacted food security. Many countries are facing the challenge of both undernutrition and over nutrition. Thus, there is a need to transform the food system to achieve food and nutrition security. One of the ways to reach closer to our goal is to provide an affordable healthy and nutritious diet to all. Millets, the nutri-cereals, have the potential to play a crucial role in the fight against food insecurity and malnutrition. Nutri-cereals are an abundant source of essential macro- and micronutrients, carbohydrates, protein, dietary fiber, lipids, and phytochemicals. The nutrient content and digestibility of millets are significantly influenced by the processing techniques. This review article highlights the nutritional characteristics and processing of Indian millets, viz. foxtail, kodo, proso, little, and pearl millets. It also envisages the effect of traditional and modern processing techniques on millet's nutritional properties. An extensive literature review was conducted using the research and review articles related to processing techniques of millets such as fermentation, germination, dehulling, extrusion, cooking, puffing, popping, malting, milling, etc. Germination and fermentation showed a positive improvement in the overall nutritional characteristics of millets, whereas excessive dehulling, polishing, and milling resulted in reduction of the dietary fiber and micronutrients. Understanding the changes happening in the nutrient value of millets due to processing can help the food industry, researchers, and consumers select a suitable processing technique to optimize the nutrient value, increase the bioavailability of nutrients, and help combat food and nutrition security.