Monika Singh

With a key focus of the government being driving private sector investments, a two-day summit is being organised to promote potential investment opportunities that exist in the tourism sector. A collaboration between Investment Fiji and Tourism Fiji, the Fiji Tourism Investment Summit, with the support of International Finance Corporation (IFC) is expected to bring 40 […]

The Reserve Bank of Fiji says consumption activity is showing a firm recovery and are around pre-pandemic levels. In its February Economic Review the RBF said net value added tax (VAT) collections for January increased by 46.9 per cent annually and was similar to 2019 levels. Electricity consumption increased by 8.8 per cent from higher […]

The Sustainable Blended Financing Framework, which is an upcoming initiative for the Indigenous led Lau Seascape, will use a “Protection and Production approach” to support natural resource protection while ensuring a sustainable local economy. Developed by Conservation International Fiji, the framework combines public and private funding sources to support conservation efforts and ensure sustainable livelihoods, […]

Abstract Signalling pathways in malaria parasite remain poorly defined and major reason for this is the lack of understanding of the function

By Monika Singh in Suva Freedom of the press is a cornerstone of any vibrant democracy and society’s collective responsibility to safeguard

Abstract Dual Leucine Zipper Kinase (DLK) mediates multiple neuronal stress responses, and its expression levels are constantly suppressed to prevent excessive stress signaling.

By Monika Singh of Wansolwara The fourth smallest country in the world with a population of just over 11,000 people — Tuvalu — fears being “wiped off its place on the map”.

By Monika Singh in Suva New Zealand Order of Merit (MNZM) awardee Professor David Robie has called on young journalists to see journalism as a calling and not just a job.

Malformations of cortical development (MCD) are a group of disorders affecting the normal development of the human cortex and are significant causes of delay in psychomotor development and epilepsy in children. Lissencephaly (smooth brain) forms a major group of brain malformations. Microtubules help in the migration of neuronal cells. Defect in tubulin gene alpha-tubulin (TUBA), beta-tubulin (TUBB), and gamma-tubulin (TUBG) leads to defective neuronal migration. This group of disorders is termed as "tubulinopathies." The important genes implicated in causing lissencephaly are LIS1, XLIS, and TUBA1A gene. Recently, a mutation in the TUBG1 gene is associated with it. Here, we report a one-and-a-half-year-old girl with global developmental delay, microcephaly, infantile-onset epilepsy, epileptic spasms, dysmorphism, and motor signs. There was no significant birth history. Neuroimaging (MRI) showed a broad thick gyri and a decreased number of sulci suggestive of lissencephaly/pachygyria spectrum. There was dilatation of the ventricles, and no grey matter heterotopia was noted. Sleep EEG showed multifocal epileptiform discharges. The child was treated with multiple anti-seizure medicines (ASMs). A genetic test, whole exome sequencing, was done to determine the etiology of MCD. A heterozygous missense variation in exon 6 of the TUBG1 gene was identified and reported as a “variant of unknown significance.” Still, because the genotype matched with the clinical phenotype of the patient, it was considered clinically significant. Therefore, a complete diagnosis of TUBG1 mutation-associated cortical malformation (lissencephaly/pachygyria) with microcephaly and early-onset epilepsy was established. TUBG1 mutation is de novo in most cases, but parental testing is recommended. The parents of such patients need to be counseled about the need for prenatal testing and the risk of the disease to siblings. The overall prognosis in such cases is poor because of refractory seizures, physical limitations, and intellectual disability.

July 31, 2024 Reported By: Gautam Contact information: Simplilearn Bangalore