To map the disease locus in a four-generation, consanguineous Pakistani family affected by autoso... more To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calculated by using two-point linkage analysis of the genotyping data. The maximum lod score, 4.05, was obtained for the marker D2S2333. Proximal and distal crossovers were observed with markers D2S286 and D2S1790, respectively. These crossovers define the critical disease locus to an interval of approximately 9 centimorgans (cM). Linkage analysis identified a novel locus for adNCat on chromosome 2p12 in a Pakistani family. A genome database analysis of the target interval is being undertaken to identify candidate gene(s) for the disease.
BACKGROUND Pakistanis belong to the South Asian population, which has the highest identified rate... more BACKGROUND Pakistanis belong to the South Asian population, which has the highest identified rate of cardio vascular diseases. Hypertension (HTN) or high blood pressure is a chronic medical condition in which the systemic arterial blood pressure is elevated. It is a mutagenic trait and so is affected by mutations and polymorphisms of numerous genes. As multiple genes are involved so personalized medicine on the basis of genetic makeup would be of great help. OBJECTIVE The present study is focused to perceive the possible association of MTHFR_C677T, ACE I/D polymorphism and FTO genes, with hypertension in Pakistani population. METHODOLOGY For this study 5ml venous blood sample from patients and age, sex matched control individuals were collected randomly with informed consents from a primary health care hospitals. All the patients were clinically evaluated for CAD, Diabetes mellitus, IHD, Hypertension, and Obesity. DNA was isolated from the collected blood samples.MTHFR_C677T, ACE I/...
Multiple factors such as genetic and environmental, are involved in causing hearing impairment (H... more Multiple factors such as genetic and environmental, are involved in causing hearing impairment (HI). Severe or profound hearing loss affects approximately one in 1000 children worldwide and half of these cases are due to genetic factors. In case of hereditary nonsyndromic HI, approximately 75–80% of cases are involved in autosomal recessive inheritance and 15% of cases involve autosomal dominant inheritance. HI represents extreme genetic heterogeneity. In nonsyndromic deafness, 135 loci have been mapped till now including 77 autosomal recessive genes of which only 29 corresponding nuclear genes have been cloned. This study was designed to apply bioinformatic approach for reducing large number of candidate genes responsible for deafness to a handy number for their mutation analysis. Databases of expressed mouse inner ear genes and the expressed human cochlear genes were used to cross-reference all genes present in particular locus predicting candidate genes for phenotypes of nonsyndr...
This paper presents two novel epileptic seizure onset detectors. The detectors rely on a common s... more This paper presents two novel epileptic seizure onset detectors. The detectors rely on a common spatial pattern (CSP)-based feature enhancement stage that increases the variance between seizure and nonseizure scalp electroencephalography (EEG). The proposed feature enhancement stage enables better discrimination between seizure and nonseizure features. The first detector adopts a conventional classification stage using a support vector machine (SVM) that feeds the energy features extracted from different subbands to an SVM for seizure onset detection. The second detector uses logical operators to pool SVM seizure onset detections made independently across different EEG spectral bands. The proposed detectors exhibit an improved performance, with respect to sensitivity and detection latency, compared with the state-of-the-art detectors. Experimental results have demonstrated that the first detector achieves a sensitivity of 95.2%, detection latency of 6.43s, and false alarm rate of 0....
Background: Primary microcephaly is a rare autosomal recessive neurological disorder characterize... more Background: Primary microcephaly is a rare autosomal recessive neurological disorder characterized by head circumference >3 SD (Standard Deviations) below the population age and sex-related mean which is a consequence of decreased size of cereberal cortex. Although MCPH patients have single clinical phenotype, genetic heterogeneity has been observed with this disease. Seven loci have been reported in the literature frequently, with an addition of three new loci recently. Six of these loci have been ascertained in the Pakistani families (MCPH1, MCPH2, MCPH3 MCPH5, MCPH6 and MCHPH8), with three of them remaining exclusive for this region (MCPH1, MCPH3 and MCPH8). Objective: In the present study, exclusion studies in two Pakistani families for MCPH locus MCPH1, MCPH2, MCPH4, MCPH5, MCPH6 and MCPH8 were done. Materials and Methods: Two families from Punjab area of Pakistan with two affected individuals with autosomal recessive primary microcephaly were ascertained. Both the families ...
Proceedings of the 4th International Conference on Wireless Mobile Communication and Healthcare - "Transforming healthcare through innovations in mobile and wireless technologies", 2014
Lipoid proteinosis (LP) is rare autosomal recessive skin disorder, with varying severity of clini... more Lipoid proteinosis (LP) is rare autosomal recessive skin disorder, with varying severity of clinical manifestations. Common clinical appearances of LP are weak cry and early infancy with hoarseness, widespread scarring and infiltrated plaques on mucosal surfaces and skin, especially at the sites of minor trauma and on sun-exposed areas. Lipoid proteinosis is the consequences from pathogenetic loss-of-function mutations in the gene encoding extracellular matrix protein1 (ECM1), mapped to a locus on chromosome 1q21. Forty six ECM1 gene mutations have been described to date in discrete patients affected with lipoid proteinosis. The mutations in LP include predominantly 19 insertions/deletions, 8 missense, 15 nonsense, and 4 splice site mutations and mostly are present on exon 6 and 7. The present study was undertaken with a view to model ECM1 of full-length and its domains. Therefore, increased quality model of the ECM1 protein through threading modeling approach and its domains throug...
2014 IEEE International Conference on Smart Grid Communications (SmartGridComm), 2014
ABSTRACT Electric Vehicles (EVs) are gradually becoming more attractive, as they offer economical... more ABSTRACT Electric Vehicles (EVs) are gradually becoming more attractive, as they offer economically viable and environmentally friendly transportation solutions when compared to their gas-powered counterparts. This trend requires wide deployment of fast charging stations to extend EV driving ranges. However, the operation of such facilities could become a bottleneck, as the power demand from the grid, especially during the peak hours, may disrupt its reliability. Hence, in this work, we provide an incentive-based control mechanism to shift the peak-hour EV load to off-peak hours. The pricing scheme enables the charging station operator to provide Quality-of-Service (QoS) guarantees to its customers. We identify two customer classes. The first class includes charging station users, which are pass-by customers that receive a one-time service from the station. The EV users prefer to get the service either upon arrival or in the next time period. They take their own decision by taking the risk of being blocked, which serves as the main performance metric. On the other hand, the second class of customers are charging station subscribers, which have agreements with the station operator and receive discounted prices. Hence, the station operator guarantees to serve the EV subscribers within a specific time window that is determined in their contracts. Therefore, the average waiting time becomes the primary QoS metric. Our results indicate that with the proposed framework, more customers can be served using the same amount of grid resources and the peak demand can be shifted to other off peak periods, while ensuring grid reliability.
Current pharmaceutical biotechnology, Jan 31, 2015
Data obtained through high-throughput technologies have gradually revealed that a unique stratifi... more Data obtained through high-throughput technologies have gradually revealed that a unique stratified epithelial architecture of human skin along with the antioxidant-response pathways provided vital defensive mechanisms against UV radiation. However, it is noteworthy that skin is a major target for toxic insult by UV radiations that can alter its structure and function. Substantial fraction of information has been added into the existing pool of knowledge related to natural products mediated biological effects in UV exposed skin cells. Accumulating evidence has started to shed light on the potential of these bioactive ingredients as protective natural products in cosmetics against UV photodamage by exerting biological effects mainly through wide ranging intracellular signalling cascades of oxidative stress and modulation of miRNAs. In this review, we have summarized recently emerging scientific evidences addressing underlying mechanisms of UV induced oxidative stress and deregulation...
To map the disease locus in a four-generation, consanguineous Pakistani family affected by autoso... more To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calculated by using two-point linkage analysis of the genotyping data. The maximum lod score, 4.05, was obtained for the marker D2S2333. Proximal and distal crossovers were observed with markers D2S286 and D2S1790, respectively. These crossovers define the critical disease locus to an interval of approximately 9 centimorgans (cM). Linkage analysis identified a novel locus for adNCat on chromosome 2p12 in a Pakistani family. A genome database analysis of the target interval is being undertaken to identify candidate gene(s) for the disease.
BACKGROUND Pakistanis belong to the South Asian population, which has the highest identified rate... more BACKGROUND Pakistanis belong to the South Asian population, which has the highest identified rate of cardio vascular diseases. Hypertension (HTN) or high blood pressure is a chronic medical condition in which the systemic arterial blood pressure is elevated. It is a mutagenic trait and so is affected by mutations and polymorphisms of numerous genes. As multiple genes are involved so personalized medicine on the basis of genetic makeup would be of great help. OBJECTIVE The present study is focused to perceive the possible association of MTHFR_C677T, ACE I/D polymorphism and FTO genes, with hypertension in Pakistani population. METHODOLOGY For this study 5ml venous blood sample from patients and age, sex matched control individuals were collected randomly with informed consents from a primary health care hospitals. All the patients were clinically evaluated for CAD, Diabetes mellitus, IHD, Hypertension, and Obesity. DNA was isolated from the collected blood samples.MTHFR_C677T, ACE I/...
Multiple factors such as genetic and environmental, are involved in causing hearing impairment (H... more Multiple factors such as genetic and environmental, are involved in causing hearing impairment (HI). Severe or profound hearing loss affects approximately one in 1000 children worldwide and half of these cases are due to genetic factors. In case of hereditary nonsyndromic HI, approximately 75–80% of cases are involved in autosomal recessive inheritance and 15% of cases involve autosomal dominant inheritance. HI represents extreme genetic heterogeneity. In nonsyndromic deafness, 135 loci have been mapped till now including 77 autosomal recessive genes of which only 29 corresponding nuclear genes have been cloned. This study was designed to apply bioinformatic approach for reducing large number of candidate genes responsible for deafness to a handy number for their mutation analysis. Databases of expressed mouse inner ear genes and the expressed human cochlear genes were used to cross-reference all genes present in particular locus predicting candidate genes for phenotypes of nonsyndr...
This paper presents two novel epileptic seizure onset detectors. The detectors rely on a common s... more This paper presents two novel epileptic seizure onset detectors. The detectors rely on a common spatial pattern (CSP)-based feature enhancement stage that increases the variance between seizure and nonseizure scalp electroencephalography (EEG). The proposed feature enhancement stage enables better discrimination between seizure and nonseizure features. The first detector adopts a conventional classification stage using a support vector machine (SVM) that feeds the energy features extracted from different subbands to an SVM for seizure onset detection. The second detector uses logical operators to pool SVM seizure onset detections made independently across different EEG spectral bands. The proposed detectors exhibit an improved performance, with respect to sensitivity and detection latency, compared with the state-of-the-art detectors. Experimental results have demonstrated that the first detector achieves a sensitivity of 95.2%, detection latency of 6.43s, and false alarm rate of 0....
Background: Primary microcephaly is a rare autosomal recessive neurological disorder characterize... more Background: Primary microcephaly is a rare autosomal recessive neurological disorder characterized by head circumference >3 SD (Standard Deviations) below the population age and sex-related mean which is a consequence of decreased size of cereberal cortex. Although MCPH patients have single clinical phenotype, genetic heterogeneity has been observed with this disease. Seven loci have been reported in the literature frequently, with an addition of three new loci recently. Six of these loci have been ascertained in the Pakistani families (MCPH1, MCPH2, MCPH3 MCPH5, MCPH6 and MCHPH8), with three of them remaining exclusive for this region (MCPH1, MCPH3 and MCPH8). Objective: In the present study, exclusion studies in two Pakistani families for MCPH locus MCPH1, MCPH2, MCPH4, MCPH5, MCPH6 and MCPH8 were done. Materials and Methods: Two families from Punjab area of Pakistan with two affected individuals with autosomal recessive primary microcephaly were ascertained. Both the families ...
Proceedings of the 4th International Conference on Wireless Mobile Communication and Healthcare - "Transforming healthcare through innovations in mobile and wireless technologies", 2014
Lipoid proteinosis (LP) is rare autosomal recessive skin disorder, with varying severity of clini... more Lipoid proteinosis (LP) is rare autosomal recessive skin disorder, with varying severity of clinical manifestations. Common clinical appearances of LP are weak cry and early infancy with hoarseness, widespread scarring and infiltrated plaques on mucosal surfaces and skin, especially at the sites of minor trauma and on sun-exposed areas. Lipoid proteinosis is the consequences from pathogenetic loss-of-function mutations in the gene encoding extracellular matrix protein1 (ECM1), mapped to a locus on chromosome 1q21. Forty six ECM1 gene mutations have been described to date in discrete patients affected with lipoid proteinosis. The mutations in LP include predominantly 19 insertions/deletions, 8 missense, 15 nonsense, and 4 splice site mutations and mostly are present on exon 6 and 7. The present study was undertaken with a view to model ECM1 of full-length and its domains. Therefore, increased quality model of the ECM1 protein through threading modeling approach and its domains throug...
2014 IEEE International Conference on Smart Grid Communications (SmartGridComm), 2014
ABSTRACT Electric Vehicles (EVs) are gradually becoming more attractive, as they offer economical... more ABSTRACT Electric Vehicles (EVs) are gradually becoming more attractive, as they offer economically viable and environmentally friendly transportation solutions when compared to their gas-powered counterparts. This trend requires wide deployment of fast charging stations to extend EV driving ranges. However, the operation of such facilities could become a bottleneck, as the power demand from the grid, especially during the peak hours, may disrupt its reliability. Hence, in this work, we provide an incentive-based control mechanism to shift the peak-hour EV load to off-peak hours. The pricing scheme enables the charging station operator to provide Quality-of-Service (QoS) guarantees to its customers. We identify two customer classes. The first class includes charging station users, which are pass-by customers that receive a one-time service from the station. The EV users prefer to get the service either upon arrival or in the next time period. They take their own decision by taking the risk of being blocked, which serves as the main performance metric. On the other hand, the second class of customers are charging station subscribers, which have agreements with the station operator and receive discounted prices. Hence, the station operator guarantees to serve the EV subscribers within a specific time window that is determined in their contracts. Therefore, the average waiting time becomes the primary QoS metric. Our results indicate that with the proposed framework, more customers can be served using the same amount of grid resources and the peak demand can be shifted to other off peak periods, while ensuring grid reliability.
Current pharmaceutical biotechnology, Jan 31, 2015
Data obtained through high-throughput technologies have gradually revealed that a unique stratifi... more Data obtained through high-throughput technologies have gradually revealed that a unique stratified epithelial architecture of human skin along with the antioxidant-response pathways provided vital defensive mechanisms against UV radiation. However, it is noteworthy that skin is a major target for toxic insult by UV radiations that can alter its structure and function. Substantial fraction of information has been added into the existing pool of knowledge related to natural products mediated biological effects in UV exposed skin cells. Accumulating evidence has started to shed light on the potential of these bioactive ingredients as protective natural products in cosmetics against UV photodamage by exerting biological effects mainly through wide ranging intracellular signalling cascades of oxidative stress and modulation of miRNAs. In this review, we have summarized recently emerging scientific evidences addressing underlying mechanisms of UV induced oxidative stress and deregulation...
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