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2023 ◽  
Vol 83 ◽  
Author(s):  
T. Batool ◽  
S. Irshad ◽  
K. Mahmood

Abstract 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.


2022 ◽  
Vol 4 (3) ◽  
pp. 694-707
Author(s):  
Amiruddin Amiruddin ◽  
Uswatun Hasanah ◽  
Yulita Suyatmika ◽  
Retno Pringadi ◽  
Budi Setiawan Ginting

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


Life ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 123
Author(s):  
Astra Piccinini ◽  
Eva C. Lourenço ◽  
Osvaldo S. Ascenso ◽  
Maria Rita Ventura ◽  
Heinz Amenitsch ◽  
...  

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.


2022 ◽  
Vol 2022 ◽  
pp. 1-9
Author(s):  
Xinyi Du ◽  
Haijun Ma

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.


Energies ◽  
2022 ◽  
Vol 15 (2) ◽  
pp. 592
Author(s):  
Mohammadjavad Mobarra ◽  
Miloud Rezkallah ◽  
Adrian Ilinca

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.


Author(s):  
Nursalim Nursalim ◽  
Mappeaty Nyorong ◽  
Asriwati Amirah

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.


Sensors ◽  
2022 ◽  
Vol 22 (2) ◽  
pp. 553
Author(s):  
Jose Angel Picazo-Bueno ◽  
Karina Trindade ◽  
Martin Sanz ◽  
Vicente Micó

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.


2022 ◽  
Vol 27 ◽  
pp. 837-853
Author(s):  
Emanuel Ario Bimo ◽  
Eka Prabawa ◽  
Esra Kriahanta Sembiring ◽  
Oktaheroe Ramsi ◽  
Sjafrie Sjamsoeddin ◽  
...  

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.


Water ◽  
2022 ◽  
Vol 14 (1) ◽  
pp. 109
Author(s):  
Maria Papale ◽  
Angelina Lo Giudice ◽  
Alessandro Ciro Rappazzo ◽  
Maurizio Azzaro ◽  
Carmen Rizzo

Antarctic freshwater ecosystems are especially vulnerable to human impacts. Polychlorobiphenyls (PCBs) are persistent organic pollutants that have a long lifetime in the environment. Despite their use having either been phased out or restricted, they are still found in nature, also in remote areas. Once in the environment, the fate of PCBs is strictly linked to bacteria which represent the first step in the transfer of toxic compounds to higher trophic levels. Data on PCB-oxidizing bacteria from polar areas are still scarce and fragmented. In this study, the occurrence of PCB-oxidizing cold-adapted bacteria was evaluated in water and sediment of four coastal lakes at Edmonson Point (Northern Victoria Land, Antarctica). After enrichment with biphenyl, 192 isolates were obtained with 57 of them that were able to grow in the presence of the PCB mixture Aroclor 1242, as the sole carbon source. The catabolic gene bphA, as a proxy for PCB degradation potential, was harbored by 37 isolates (out of 57), mainly affiliated to the genera Salinibacterium, Arthrobacter (among Actinobacteria) and Pusillimonas (among Betaproteobacteria). Obtained results enlarge our current knowledge on cold-adapted PCB-oxidizing bacteria and pose the basis for their potential application as a valuable eco-friendly tool for the recovery of PCB-contaminated cold sites.


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