Konsep Green Architecture pada Taman Warisan Melayu Singapura

Taman mempunyai arti penting bagi kehidpan manusia. Di daerah padat penduduk sudah sangat jarang sekali ditemukan taman yang nyaman. Taman Warisan Melayu merupakan salah satu kawasan wisata di Kampung Gelam, Singapura yang dapat dinikmati oleh semua kalangan usia dan juga dapat dijadikan sebagai taman edukasi. Tujuan dari penelitian ini adalah mendeskripsikan konsep green architecture pada Taman Warisan Melayu ini. Metode yang digunakan dalam penelitian ini adalah deskriptif kualitatif. Hasil penelitian ini menjelaskan bahwa lahan hijau pada taman ini sekitar ±70% dari total luas lahan. Jenis tanaman sebagian besar terdiri dari tanaman obat, buah-buahan dan rumput-rumputan, dan sudah dikelompokkansesuai dengan manfaatnya. Elemen alami yang terdapat pada taman ini terdiri dari tumbuh-tumbuhan dan air. Elemen buatan pada taman ini merupakan elemen yang alami tetapi telah mengalami pengolahan lebih lanjut. Sistem pengolahan sampah dengan sistem dikumpulkan, dipadatkan, diangkut, dibakar, dan dibuang dengan konsep waste to energy

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario

Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians. There is also a considerable degree of confusion regarding the prenatal screening test to be chosen in each case, due to the availability of a number of new and advanced screening techniques. At present, there is no nation-wide consensus regarding the nature and timing of these prenatal-screening protocols. Due to the absence of any definite guidelines and the additional lacunae in the awareness regarding the appropriate prenatal screening in the country, the optimum benefits of these screening protocols are not reaching the population. This review focuses on the various prenatal screening and diagnostic tests that are available for common genetic conditions and congenital disabilities and attempts to outline the most cost-effective and gestational age-appropriate strategies for prenatal screening for the Indian healthcare set-up. The recommendations suggested would serve as a source guide for formulating prenatal-screening guidelines for reducing the incidence of common genetic disorders and congenital disabilities in India

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. However, biallelic ELOVL4 mutations have not been observed in humans, and murine models with homozygous mutations die within hours of birth as a result of a defective epidermal water barrier. Here, we report on two human individuals with recessive ELOVL4 mutations revealed by a combination of autozygome analysis and exome sequencing. These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity—a constellation that resembles Sjögren-Larsson syndrome (SLS) but presents a more severe neurologic phenotype. Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development