Objective : This scientific writing is meant for describing the problems faced by pharmacy staffs during heavy flood situations in Johore and the actions to be taken for solving these problems.
Methodology : This finding is in accordance to the observations, experiences and interview of staffs (through questionnaires), who are involved directly and indirectly in preparations of emergency during flood. Efficiency of pharmaceutical services provided during flood is evaluated.
Result : Several problems were identified when providing pharmaceutical services, such as purchasing and supplying of items, pre-packing, preparing drug charts, visit to relief centers, post-flood health campaign, and doctors from NGOs prescibing medicines out of MOH drug formulary. During the period of flood, usage of drug and non-drug items increases drastically resulting in the current stock in store were not sufficient to compensate for the high demand. Moreover, inaccessibility of certain roads in districts such as Segamat and Kota Tinggi, aggravated and worsen the problems of obtaining goods from suppliers. Workload of pharmacy staffs increased especially in activities such as pre-packing and preparing drug charts due to shortage of manpower.
Conclusion : Even though workload increased drastically during flood, pharmaceutical services provided by the state pharmacy are still able to maintain good quality services to cater for the need of healthcare professionals and patients. Throughout the flood period, all the difficulties and hurdles faced by us had been solved; due to the cooperation from other agencies. Besides, by writing this article, a disaster preparedness guideline is produced for the purpose of improving management of future disasters.
Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of CK2, have been identified in individuals with intellectual disability syndrome. In this study, we describe four patients with neurodevelopmental disorders possessing de novo variants in CSNK2A1 or CSNK2B. Using whole-exome sequencing, we detected two de novo variants in CSNK2A1 in two unrelated Japanese patients, a novel variant c.571C>T, p.(Arg191*) and a recurrent variant c.593A>G, p.(Lys198Arg), and two novel de novo variants in CSNK2B in Japanese and Malaysian patients, c.494A>G, p.(His165Arg) and c.533_534insGT, p.(Pro179Tyrfs*49), respectively. All four patients showed mild to profound intellectual disabilities, developmental delays, and various types of seizures. This and previous studies have found a total of 20 CSNK2A1 variants in 28 individuals with syndromic intellectual disability. The hotspot variant c.593A>G, p.(Lys198Arg) was found in eight of 28 patients. Meanwhile, only five CSNK2B variants were identified in five individuals with neurodevelopmental disorders. We reviewed the previous literature to verify the phenotypic spectrum of CSNK2A1- and CSNK2B-related syndromes.