Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pathogenic mutations in the ASPM gene to understand etiology and molecular mechanism of primary microcephaly. Blood samples were collected from various families across different remote areas of Pakistan from February 2017 to May 2019 who were identified to be affected with primary microcephaly. DNA extraction was performed using the salting-out method; the quality and quantity of DNA were evaluated using spectrophotometry and 1% agarose gel electrophoresis, respectively in University of the Punjab. Mutation analysis was performed by whole exome sequencing from the Cologne Center for Genomics, University of Cologne. Sanger sequencing was done in University of the Punjab to confirm the pathogenic nature of mutation. A novel 4-bp deletion mutation c.3877_3880delGAGA was detected in exon 17 of the ASPM gene in two primary microcephaly affected families (A and B), which resulted in a frame shift mutation in the gene followed by truncated protein synthesis (p.Glu1293Lysfs*10), as well as the loss of the calmodulin-binding IQ domain and the Armadillo-like domain in the ASPM protein. Using the in-silico tools Mutation Taster, PROVEAN, and PolyPhen, the pathogenic effect of this novel mutation was tested; it was predicted to be “disease causing,” with high pathogenicity scores. One previously reported mutation in exon 24 (c.9730C>T) of the ASPM gene resulting in protein truncation (p.Arg3244*) was also observed in family C. Mutations in the ASPM gene are the most common cause of MCPH in most cases. Therefore, enrolling additional affected families from remote areas of Pakistan would help in identifying or mapping novel mutations in the ASPM gene of primary microcephaly.

Sistem ANBK Dalam Meningkatkan Mutu Pendidikan Internal MAS Insan Kesuma Madani

This study was conducted to determine the ANBK system in improving the quality of internal education of MAS Insan Kesuma Madani madrasah. From this objective, it can be seen that the ANBK system in the Madrasah improves the quality of internal education. This research was conducted using a qualitative approach. Data collection techniques in this study using interviews, observation and documentation. Data analysis was carried out using the stages of the Miles and Huberman model such as: (1) collecting data, (2) reducing data, (3) presenting data, (4) drawing conclusions. The main problem in this research is that there are still some obstacles in implementing ANBK in the madrasa. The findings and conclusions of the study show that first, madrasas have several obstacles in operating hardware such as operating servers, labtops and software. second, madrasas have encountered difficulties in socializing to students to operate the labtop during the covid 19 pandemic. Third, the difficulty of networking in madrasas because they are located in remote areas has an impact on comfort in implementing ANBK. Keywords : ANBK System, Internal Education Quality

SAXS Reveals the Stabilization Effects of Modified Sugars on Model Proteins

Many proteins are usually not stable under different stresses, such as temperature and pH variations, mechanical stresses, high concentrations, and high saline contents, and their transport is always difficult, because they need to be maintained in a cold regime, which is costly and very challenging to achieve in remote areas of the world. For this reason, it is extremely important to find stabilizing agents that are able to preserve and protect proteins against denaturation. In the present work, we investigate, by extensively using synchrotron small-angle X-ray scattering experiments, the stabilization effect of five different sugar-derived compounds developed at ExtremoChem on two model proteins: myoglobin and insulin. The data analysis, based on a novel method that combines structural and thermodynamic features, has provided details about the physical-chemical processes that regulate the stability of these proteins in the presence of stabilizing compounds. The results clearly show that some modified sugars exert a greater stabilizing effect than others, being able to maintain the active forms of proteins at temperatures higher than those in which proteins, in the absence of stabilizers, reach denatured states.

Eco-Environmental Civilization Construction System in Remote Areas Based on Multiple Data Collection and the Internet of Things

For a long time, the development strategy of remote areas is basically resource-oriented. Large-scale exploitation of resources not only damages the corresponding balance of resource reserves but also causes serious damage to the ecological environment. To this end, this paper has carried out research on the construction of ecological environment civilization in remote areas based on multidata collection and edge computing. Based on the understanding of the connotation, composition, and characteristics of ecological civilization, this paper selects representative indicators to reflect the specific requirements of ecological civilization, constructs an evaluation index system for the construction of ecological civilization in remote areas, and uses the evaluation indicators analysis and sorting. Second, edge computing and sensor technologies are applied to the process of data collection and information transmission and providing solutions for data collection and transmission in remote areas. This paper also presents the security method to protect the information transmission. Through testing, the program has shown good adaptability and can provide ideas for the construction of ecological environment in remote areas.

Variable Speed Diesel Generators: Performance and Characteristic Comparison

Diesel generators (DGs) are set to work as a backup during power outages or support the load in remote areas not connected to the national grid. These DGs are working at a constant speed to produce reliable AC power, while electrical energy demand fluctuates according to instantaneous needs. High electric loads occur only for a few hours a day in remote areas, resulting in oversizing DGs. During a low load operation, DGs face poor fuel efficiency and condensation of fuel residues on the walls of engine cylinders that increase friction and premature wear. One solution to increase combustion efficiency at low electric loads is to reduce diesel engine (DE) speed to its ideal regime according to the mechanical torque required by the electrical generator. Therefore, Variable Speed Diesel Generators (VSDGs) allow the operation of the diesel engine at an optimal speed according to the electrical load but require additional electrical equipment and control to maintain the power output to electrical standards. Variable speed technology has shown a significant reduction of up to 40% fuel consumption, resulting in low GHG emissions and operating costs compared to a conventional diesel generator. This technology also eliminates engine idle time during a low load regime to have a longer engine lifetime. The main objective of this survey paper is to present the state of the art of the VSDG technologies and compare their performance in terms of fuel savings, increased engine lifetime, and reduced greenhouse gases (GHG) emissions. Various concepts and the latest VSDG technologies have been evaluated in this paper based on their performance appraisal and degree of innovation.

Implementation of Management of Pulmonary Tuberculosis with the Directly Observed Treatment Short course Strategy

The purpose of this study was to describe the implementation of pulmonary TB disease management with the DOTS strategy at the Jagong Health Center, Central Aceh Regency.The implementation of Pulmonary TB Management with the DOTS (Directly Observed Treatment Shortcourse) strategy in the working area of the Jagong Health Center, Central Aceh Regency has been maximized. by facilitating and providing motivation so that patients want treatment in a complete and integrated manner, case detection can be carried out by health workers or cadres who have been given training to recognize the symptoms of pulmonary TB. The distribution of drugs is distributed to each puskesmas in Central Aceh Regency, from the Puskesmas the drugs are arranged directly by P2TB officers then given directly to the PMO or the patient himself. PMO performance has never been given special training about treatment, PMO only received direction from P2TB Pulmonary officers. Recording and reporting carried out at the Jagong Health Center includes case finding, treatment, and recovery. Suspected pulmonary TB will be recorded and then monitored until the results of the examination have been obtained. Recording and reporting will be reported every month in a meeting at the Central Aceh District Health Office. For the Central Aceh Regency government to further enhance the development and improvement of infrastructure in the health sector so that health services are more easily accessible to people in remote areas.

Design, Calibration, and Application of a Robust, Cost-Effective, and High-Resolution Lensless Holographic Microscope

Lensless holographic microscope (LHM) is an emerging very promising technology that provides high-quality imaging and analysis of biological samples without utilizing any lens for imaging. Due to its small size and reduced price, LHM can be a very useful tool for the point-of-care diagnosis of diseases, sperm assessment, or microfluidics, among others, not only employed in advanced laboratories but also in poor and/or remote areas. Recently, several LHMs have been reported in the literature. However, complete characterization of their optical parameters remains not much presented yet. Hence, we present a complete analysis of the performance of a compact, reduced cost, and high-resolution LHM. In particular, optical parameters such as lateral and axial resolutions, lateral magnification, and field of view are discussed into detail, comparing the experimental results with the expected theoretical values for different layout configurations. We use high-resolution amplitude and phase test targets and several microbeads to characterize the proposed microscope. This characterization is used to define a balanced and matched setup showing a good compromise between the involved parameters. Finally, such a microscope is utilized for visualization of static, as well as dynamic biosamples.

Application of AHP and PESTEL-SWOT Analysis on The Study of Military Amphibious Aircraft Acquisition Decision Making in Indonesia

Indonesia’s characteristics as an archipelagic state along with the increase of traditional and non-traditional threats in Indonesia require the ownership of military amphibious aircraft to oversee its maritime territories and perform logistics distribution to remote areas with minimum accessibility, especially its outermost islands. This study applied a combination of analytic hierarchy process (AHP), Political, Economic, Social, Techonology, Environment, and Legal (PESTEL) and Strength, Weakness, Opportunity, and Threat (SWOT) analysis to conduct a structured, systematic, measurable, and comprehensive decision-making process for selecting military amphibious aircraft and prescribe strategic recommendations on the acquisition plan. By using 3 criteria, 14 sub-criteria, and 3 alternative aircraft models, the results of AHP analysis showed that the Beriev Be-200 aircraft are the most preferred aircraft by the Indonesian users. The results of PESTEL-SWOT analysis show that good diplomatic relations between Indonesia and the manufacturer’s country of origin, users’ support to the plan, and user’s ability to adapt in operating and maintaining the aircraft support this decision. Meanwhile, limited fiscal capacity and domestic aircraft maintenance facilities/depots, as well as the risk of spare parts scarcity, have to be addressed for Indonesia to acquire its own military amphibious aircrafts.

An Assessment Framework for PV Parallel MPPT Configuration with a New Utilization for UIPS Loads

The prevalence rate of photovoltaics (PV)-based generation systems has increased by more than 15 folds in the last decade, putting it on the top compared to any other power generation system from the expandability point of view. A portion of this huge expansion serves to energize standalone remote areas. Seeking improvements from different aspects of PV systems has been the focus of many studies. In the track of these improvements, parallel MPPT configuration for PV standalone systems have been introduced in the literature as an alternative to a series configuration to improve the overall efficiency of standalone PV systems. However, this efficiency improvement of the parallel MPPT configuration over the series one is not valid for any standalone application, therefore an assessment procedure is required to determine the most efficient MPPT configuration for different standalone applications. Therefore, in this study, an assessment procedure of parallel MPPT is conducted to demonstrate the suitability of utilizing such a configuration compared to series one, based on load daytime energy contributions. This assessment will help PV system designers to determine which MPPT configuration should be selected for applications under study. Furthermore, a new utilization of parallel MPPT configuration is introduced for operating universal input power supply (UIPS) loads to eliminate the inverter stage, thereby increasing the overall system efficiency and reliability. Finally, a systematic procedure to size the complete system is introduced and reinforced by a sizing example.