Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of pro... more Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17 which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with 9 novel MPV17 pathogenic variants. We summarize the clinical features of all 100 affected individuals and review the total 48 MPV17 pathogenic variants. The vast majority of affected individuals presented with an early-onset encephalohepatopathic disease characterized by hepatic and neurologic...
From a GeneMatcher-enabled international collaboration, we identified ten individuals with intell... more From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChlP-seq experiments collectively show that the mutations are deleterious and impair EBF3 transcriptional regulation. These findings demonstrate that EBF3-mediated dysregulation of gene expression has profound effects on neuronal development in humans.
The paradigm of a single gene associated with one specific phenotype and mode of inheritance has ... more The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been impl...
Environmental and Earth Sciences Research Journal, 2020
Ground Magnetic measurement was carried out with the aim of delineating the subsurface structures... more Ground Magnetic measurement was carried out with the aim of delineating the subsurface structures on Dala hill, Kano State. Total magnetic intensity data were acquired using the SCINTREX proton precession magnetometer along closely spaced traverses. The acquired total magnetic intensity data were reduced and plotted using Golden Surfer software to produce the 2D and 3D surface maps for visual inspection. Five profiles AB, CD, EF, GH and IJ were selected for forward modelling using Mag2dc software to give detail information about the causative body parameters. The depths of these bodies from the surface fall in the interval 0.0 m to 8.5 m. The high magnetic anomaly field ranges from -21,752 to 47,205 nT which suggested area of iron occurrences. The study categorized the identified major anomalous features into two: the shallower bodies which penetrated down to a maximum depth of 67.3 m were inferred to be disturbed sediments, fire pits and kilns; whereas the rest, the deep-rooted fea...
Nowadays, the Wireless Sensor Network (WSN) has materialized its working areas, including environ... more Nowadays, the Wireless Sensor Network (WSN) has materialized its working areas, including environmental engineering, agriculture sector, industrial, business applications, military, intelligent buildings, etc. Sensor networks emerge as an attractive technology with great promise for the future. Indeed, issues remain to be resolved in the areas of coverage and deployment, scalability, service quality, size, energy consumption and security. The purpose of this paper is to present the integration of WSNs for IoT networks with the intention of exchanging information, applying security and configuration. These aspects are the challenges of network construction in which authentication, confidentiality, availability, integrity, network development. This review sheds some light on the potential integration challenges imposed by the integration of WSNs for IoT, which are reflected in the difference in traffic features.
Journal of Al-Azhar University Engineering Sector, 2022
This research discusses the problem of focusing on visual sense when designing public parks and n... more This research discusses the problem of focusing on visual sense when designing public parks and neglecting the other senses. This may cause insufficiency in users’ perception of such parks and lack of integration with the nature, because of the shortage of sensual influences needed to connect people with context. This issue comprises also visually impaired users who may face difficulties in finding their way through parks or enjoy them, due to the lack of sensual stimuli. The research aims to conclude design guidelines for public parks to support various types of sensory influences to improve the accessibility and enjoyment of both visually impaired and sighted users. The methodology depends on induction of the required design principles for such purposes by studying past research relevant to the issue, analysing examples of international sensory parks, and reviewing the Egyptian code for persons with disabilities. Semi-structured interviews with Egyptian visually impaired persons a...
I show using Fourier-series analysis how sinusoidally-tapered waveguides can be employed as effic... more I show using Fourier-series analysis how sinusoidally-tapered waveguides can be employed as efficient quasi-phase-matching schemes in third-order nonlinear media for on-demand four-wave mixing parametric processes, such as third-harmonic generation.
Waste management has been acknowledged as one of Bahrain’s biggest challenges due to its impendin... more Waste management has been acknowledged as one of Bahrain’s biggest challenges due to its impending effects regarded as detrimental to the country. Data gathered within the past thirty years have all revealed significant increases on waste quantity generated in the country along the categories of residential, commercial, institutional, construction and demolition, municipal services, public areas, treatment plant sites, industrial, and agricultural wastes. The limited land area, characterised by Bahrain’s small geographical space, is the biggest factor that contributes to the problem of managing the increasing waste accumulation of the country and finding sustainable systems of waste management. As such, the growing need to refurbish the current system of municipal solid waste management utilised in the country is the focus of this study. Sustainable waste management systems through the adoption of Integrated Solid Waste Management (ISWM) is analysed as a probable solution towards so...
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of pro... more Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17 which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with 9 novel MPV17 pathogenic variants. We summarize the clinical features of all 100 affected individuals and review the total 48 MPV17 pathogenic variants. The vast majority of affected individuals presented with an early-onset encephalohepatopathic disease characterized by hepatic and neurologic...
From a GeneMatcher-enabled international collaboration, we identified ten individuals with intell... more From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChlP-seq experiments collectively show that the mutations are deleterious and impair EBF3 transcriptional regulation. These findings demonstrate that EBF3-mediated dysregulation of gene expression has profound effects on neuronal development in humans.
The paradigm of a single gene associated with one specific phenotype and mode of inheritance has ... more The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been impl...
Environmental and Earth Sciences Research Journal, 2020
Ground Magnetic measurement was carried out with the aim of delineating the subsurface structures... more Ground Magnetic measurement was carried out with the aim of delineating the subsurface structures on Dala hill, Kano State. Total magnetic intensity data were acquired using the SCINTREX proton precession magnetometer along closely spaced traverses. The acquired total magnetic intensity data were reduced and plotted using Golden Surfer software to produce the 2D and 3D surface maps for visual inspection. Five profiles AB, CD, EF, GH and IJ were selected for forward modelling using Mag2dc software to give detail information about the causative body parameters. The depths of these bodies from the surface fall in the interval 0.0 m to 8.5 m. The high magnetic anomaly field ranges from -21,752 to 47,205 nT which suggested area of iron occurrences. The study categorized the identified major anomalous features into two: the shallower bodies which penetrated down to a maximum depth of 67.3 m were inferred to be disturbed sediments, fire pits and kilns; whereas the rest, the deep-rooted fea...
Nowadays, the Wireless Sensor Network (WSN) has materialized its working areas, including environ... more Nowadays, the Wireless Sensor Network (WSN) has materialized its working areas, including environmental engineering, agriculture sector, industrial, business applications, military, intelligent buildings, etc. Sensor networks emerge as an attractive technology with great promise for the future. Indeed, issues remain to be resolved in the areas of coverage and deployment, scalability, service quality, size, energy consumption and security. The purpose of this paper is to present the integration of WSNs for IoT networks with the intention of exchanging information, applying security and configuration. These aspects are the challenges of network construction in which authentication, confidentiality, availability, integrity, network development. This review sheds some light on the potential integration challenges imposed by the integration of WSNs for IoT, which are reflected in the difference in traffic features.
Journal of Al-Azhar University Engineering Sector, 2022
This research discusses the problem of focusing on visual sense when designing public parks and n... more This research discusses the problem of focusing on visual sense when designing public parks and neglecting the other senses. This may cause insufficiency in users’ perception of such parks and lack of integration with the nature, because of the shortage of sensual influences needed to connect people with context. This issue comprises also visually impaired users who may face difficulties in finding their way through parks or enjoy them, due to the lack of sensual stimuli. The research aims to conclude design guidelines for public parks to support various types of sensory influences to improve the accessibility and enjoyment of both visually impaired and sighted users. The methodology depends on induction of the required design principles for such purposes by studying past research relevant to the issue, analysing examples of international sensory parks, and reviewing the Egyptian code for persons with disabilities. Semi-structured interviews with Egyptian visually impaired persons a...
I show using Fourier-series analysis how sinusoidally-tapered waveguides can be employed as effic... more I show using Fourier-series analysis how sinusoidally-tapered waveguides can be employed as efficient quasi-phase-matching schemes in third-order nonlinear media for on-demand four-wave mixing parametric processes, such as third-harmonic generation.
Waste management has been acknowledged as one of Bahrain’s biggest challenges due to its impendin... more Waste management has been acknowledged as one of Bahrain’s biggest challenges due to its impending effects regarded as detrimental to the country. Data gathered within the past thirty years have all revealed significant increases on waste quantity generated in the country along the categories of residential, commercial, institutional, construction and demolition, municipal services, public areas, treatment plant sites, industrial, and agricultural wastes. The limited land area, characterised by Bahrain’s small geographical space, is the biggest factor that contributes to the problem of managing the increasing waste accumulation of the country and finding sustainable systems of waste management. As such, the growing need to refurbish the current system of municipal solid waste management utilised in the country is the focus of this study. Sustainable waste management systems through the adoption of Integrated Solid Waste Management (ISWM) is analysed as a probable solution towards so...
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