16 research outputs found
Exploring the Folk Medicinal Flora of Abbotabad City, Pakistan
The research work was carried out around the selected areas of Abbotabad city. The study was aimed to document the traditional folk knowledge of local people about use of medicinal plants as ethno medicines. The methodology includes questionnaire survey and personal communications. The ethnomedicnal data on 108 plant species belonging to 52 families were recorded during field expeditions from remote villages around Abbotabad city. The data was arranged alphabetically by family name followed by botanical name, vernacular name, part used, folk use and recipe. The plant species were collected identified, preserved and the voucher specimens deposited in the Department of Environmental Sciences, Fatima Jinnah Women University, and Rawalpindi for future reference
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life
A mutation in <it>CTSK </it>gene in an autosomal recessive pycnodysostosis family of Pakistani origin
Abstract Background Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible for this disease. Objectives To identify pathogenic mutation in a consanguineous Pakistani family with 3 affected individuals demonstrating autosomal recessive pycnodysostosis. Methods Genotyping of 10 members of the family, including three affected and seven unaffected individuals was carried out by using polymorphic markers D1S442, D1S498, and D1S305, which are closely linked to the CTSK gene on chromosome 1q21. To screen for mutations in the CTSK gene, all of its exons and splice junctions were PCR amplified from genomic DNA and sequenced directly in an ABI Prism 310 automated sequencer. Results Genotyping results showed linkage of the pycnodysostosis Pakistani family to the CTSK locus. Sequence analysis of the CTSK gene revealed homozygosity for a missense mutation (A277V) in the affected individuals. Conclusion We describe a missense mutation in the CTSK gene in a Pakistani family affected with autosomal recessive pycnodysostosis. Our study strengthens the role of this particular mutation in the pathogenesis of pycnodysostosis and suggests its prevalence in Pakistani patients.</p
An Efficient Route Maintenance Protocol for Dynamic Bluetooth Networks
Bluetooth is a widespread technology for small wireless networks that permits Bluetooth devices to construct a multi-hop network called scatternet. Routing in multi-hop dynamic Bluetooth network, where a number of masters and bridges exist creates technical hitches. It is observed that frequent link disconnections and a new route construction consume extra system resources that degrade the whole network performance. Therefore, in this paper an Efficient Route Maintenance Protocol for Dynamic Bluetooth Networks (ERMP) is proposed that repairs the weak routing paths based on the prediction of weak links and weak devices. The ERMP predicts the weak links through the signal strength and weak devices through low energy levels. During the main route construction, routing masters and bridges keep the information of the Fall Back Devices (FBDs) for route maintenance. On the prediction of a weak link, the ERMP activates an alternate link, on the other hand, for a weak device it activates the FBD. The proposed ERMP is compared with some existing closely related protocols, and the simulation results show that the proposed ERMP successfully recovers the weak paths and improves the system performance
Adaptive Sleep Efficient Hybrid Medium Access Control algorithm for next-generation wireless sensor networks
Abstract The scheduling algorithm is a fundamental design problem to allocate resources amongst different entities in distributive wireless sensor networks (WSNs). These sensor nodes have limited power and non-replenishable energy resources. In WSNs, the duty cycling mechanism is commonly used to save energy due to idle listening. On the other hand, a fixed duty cycling mechanism increases transmission latency in WSNs. Therefore, in order to ensure the prolonged network-life of WSNs, the medium access control (MAC) protocol should be tackled in an efficient manner to improve energy efficiency by minimizing idle listening, maximizing sleep duration, and eliminating data collision. This paper proposes a practical Adaptive Sleep Efficient Hybrid Medium Access Control (AEH-MAC) algorithm in which the key idea is to dynamically adjust nodes’ sleep time to improve the scheduling in WSNs. The AEH-MAC allows nodes to adjust sleep time dynamically according to the traffic load and coordinate wakeup time with neighbour nodes. A series of short taken packets are transmitted to wake the receiver, and a prediction field is introduced in the ACK packets (GRANT/RELEASE) to reduce the waiting time of the source node. In the proposed algorithm, each node maps a conflict-free time slot for itself up to two-hop neighbouring nodes. The simulation results show that the AEH-MAC algorithm achieves high performance in terms of runtime, number of rounds, energy consumption, and slot reservation
An energy-efficient fog-to-cloud Internet of Medical Things architecture
In order to increase the reliability, accuracy, and efficiency in the eHealth, Internet of Medical Things is playing a vital role. Current development in telemedicine and the Internet of Things have delivered efficient and low-cost medical devices. The Internet of Medical Things architectures being developed do not completely recognize the potential of Internet of Things. The Internet of Medical Things sensor devices have limited computation power; in case if a patient is using implanted medical devices, it is not easy to recharge or replace the devices immediately. Biosensors are small devices with limited energy if these devices do not wisely utilize the energy may drain sharply and devices become inactive. The current medical solutions place the bulk of data on cloud-based systems that ultimately creates a bottleneck. In this article, an energy-efficient fog-to-cloud Internet of Medical Things architecture is proposed to optimize energy consumption. In the proposed architecture, Bluetooth enabled biosensors are used, because Bluetooth technology is an energy efficient and also helps to enable the sleep and awake modes. The proposed fog-to-cloud Internet of Medical Things works in three different modes periodic, sleep–awake, and continue to optimize the energy consumption. The proposed technique enabled the sensing modes that gathers the patients’ data efficiently based on their health conditions. The sensed data are transmitted to the relevant fog and cloud devices for further processing. The performance of fog-to-cloud Internet of Medical Things is evaluated through simulation; the results are compared with the results of existing techniques in terms of an end-to-end delay, throughput, and energy consumption. It is analyzed that the proposed technique reduces the energy consumption between 30% and 40%
A reconfigurable scatternet formation and maintenance scheme with heterogeneous services for smart Bluetooth devices
Bluetooth Inter-piconet communication necessitates deployment of relay nodes. However, network performance is affected with the increased count of relays due to high control overhead. Moreover, the mobility and power failure of a relay node may partition the network, which affects scatternet performance. This research aims to maintain scatternet connectivity without employing redundant relays. This paper presents a Scatternet Formation and Maintenance (SFM) scheme that strives to sustain scatternet connectivity. To minimize control and flooding overhead, SFM removes redundant relays without disconnecting the scatternet. Moreover, backup relays are employed to avoid network partitioning. To avoid a link disconnection, Bluetooth devices in SFM continuously keep track of movement and residual energy. A moving node notifies its master before disconnecting any communication link to make an alternative arrangement for a backup. A backup relay is activated to maintain existing communication links. In addition, backup relay activation improves the performance of synchronous connection oriented and asynchronous connection less links. The proposed technique also reduces control messaging overhead for relay optimization from O(n2) to O(n). Simulation results validate effectiveness and efficiency of the proposed scheme for inter-piconet communication. © 2018 Elsevier Lt
A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.
Genetic polymorphismsof MYOCalter the myocilin protein,which leads to disruption of thenormal regulation of intraocular pressure (IOP) that ultimately causes glaucoma.Theaim of the present study was to identify the polymorphism in exon 3 of the MYOC gene of theglaucoma patients in Lahore, Pakistan. We conducted a case-control study with 100 patients and 100 controls subjects. We extracted DNA from blood samples,amplified the target DNA fragmentby PCR, and identifiedpolymorphisms through sequencing. We observed that the allelic and genotypic frequencies of rs74315341 and rs879255525 were associated with glaucoma in our patient population. The polymorphism atrs74315341 led to the substitutionof serine for arginine,whereas the polymorphism at rs879255525 led to the substitution ofasparagine for lysine. The haplotype TGAAGCCATTTC was associated with disease onset, whereas the haplotype GGAAGCCATTTC was protective against disease development. In conclusion, weidentified MYOC gene polymorphisms in susceptible regions that were associated withglaucoma onset among the Lahore patient population.This is the first report to identify a novel mutation in rs879255525 in exon 3 of the MYOC genethat is associated withglaucoma
Vitamin D Receptor Gene Polymorphism: An Important Predictor of Arthritis Development
Vitamin D is an anti-inflammatory molecule and has a role in prevention of arthritis development. Biologically active form 1, 25(OH)2D3 of vitamin D can only exert its action after binding its definite vitamin D receptor encoded by VDR gene. VDR gene polymorphism leads to dysfunctioning of 1, 25(OH)2D3 ultimately disease onset. The purpose of current study was to evaluate the effect of vitamin D level and VDR gene polymorphism on rheumatoid arthritis and osteoarthritis. Blood samples were collected from case and control after taking written consent. Serum was separated and vitamin D level as determined from each sample by ELISA. DNA was extracted from each blood sample and amplified by using gene specific primers. Genotyping was performed by Sangers sequencing and PCR-RFLP technique. It was found that vitamin D level was not significantly different among patients and controls. The rs10735810, rs1544410, rs7975232, and rs731236 were associated with the onset of arthritis at both allelic and genotypic level (p < 0.01). Nucleotide change on rs10735810 site leads to change of tryptophan with arginine. The frequencies of haplotype CGAT, CGGA, CGGT, CTAA, CTAT, TGAA, TGAT, TGGA, and TTGA were higher in patients and act as risk factors of RA onset, whereas haplotypes CGAT, CGAT, CGGT, CTGA, TGAT, TGGA, TTAA, and TTGA were associated with OA onset. In conclusion, serum vitamin D level may be normal among arthritis patients but polymorphism on VDR gene restricts vitamin D to perform its anti-inflammatory function by altering the 1, 25(OH)2 D3 binding sites