This study reports on the inborn errors of metabolism (IEM) detected by our national newborn scre... more This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens. This relatively high prevalence resulted from the frequent consanguineous marriages (81.5%) among affected families. The following eight disorders accounted for 80% of the entities: biotinidase deficiency (14 of 55), phenylketonuria (11 of 55), 3-methylcrotonyl glycinuria (9 of 55), medium-chain acyl-CoA dehydrogenase deficiency (4 of 55), argininosuccinic aciduria, glutaric aciduria type 1, glutaric aciduria type 2, and methylmalonyl-CoA mutase deficiency (2 of 55 each). Mutation analysis was performed in 48 (87%) of the 55 patients, and 33 distinct mutations were identified. Twentynine (88%) mutations were clinically significant and, thus, could be included in our premarital screening. Most mutations were homozygous, except for the biotinidase deficiency. The BTD mutations c.1207T>G (found in citizens) and c.424C>A (found in Somalians) were associated with undetectable biotinidase activity. Thus, the high prevalence of IEM in our region is amenable to newborn and premarital screening, which is expected to halt most of these diseases.
International Journal of Hybrid Information Technology, 2016
Medical care requires intensively Image segmentation which a significant tool used to extract ori... more Medical care requires intensively Image segmentation which a significant tool used to extract origin of interest from the background. Different segmentation techniques are deployed in medical images leading to an essential developments in both diagnosis and detection process. Such development has managed to assist specialists and doctors specified in the medical care system to diagnose the patients accurately. This study will propose a more developed methodology via incorporating cluster representatives and second derivative filter technique on Carcinoma image. The conventional segmentation algorithm is widely deployed in medical care image, in spite of its advantages; being able to produce a complete division of the image, but it contains major drawbacks represented by the over-segmentations and sensitivity to false edges. This study will expose these major problems of the conventional algorithm and fixing these problems via deploying Cluster Representatives; that uses a set of pixels as representatives that represent the clusters and producing advanced results. The other process deployed is a second derivative filter applied to the segmented image resulting of the demolition of unwanted region from the image. Nevertheless, results of this study has proved that the number of partitions in medical care images are much fewer when comparing partitions produced by deploying the traditional algorithm deployed in medical care images. Such result will assist experts to easily diagnose health problems in a more accurate measure.
This study reports on the inborn errors of metabolism (IEM) detected by our national newborn scre... more This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens. This relatively high prevalence resulted from the frequent consanguineous marriages (81.5%) among affected families. The following eight disorders accounted for 80% of the entities: biotinidase deficiency (14 of 55), phenylketonuria (11 of 55), 3-methylcrotonyl glycinuria (9 of 55), medium-chain acyl-CoA dehydrogenase deficiency (4 of 55), argininosuccinic aciduria, glutaric aciduria type 1, glutaric aciduria type 2, and methylmalonyl-CoA mutase deficiency (2 of 55 each). Mutation analysis was performed in 48 (87%) of the 55 patients, and 33 distinct mutations were identified. Twentynine (88%) mutations were clinically significant and, thus, could be included in our premarital screening. Most mutations were homozygous, except for the biotinidase deficiency. The BTD mutations c.1207T>G (found in citizens) and c.424C>A (found in Somalians) were associated with undetectable biotinidase activity. Thus, the high prevalence of IEM in our region is amenable to newborn and premarital screening, which is expected to halt most of these diseases.
International Journal of Hybrid Information Technology, 2016
Medical care requires intensively Image segmentation which a significant tool used to extract ori... more Medical care requires intensively Image segmentation which a significant tool used to extract origin of interest from the background. Different segmentation techniques are deployed in medical images leading to an essential developments in both diagnosis and detection process. Such development has managed to assist specialists and doctors specified in the medical care system to diagnose the patients accurately. This study will propose a more developed methodology via incorporating cluster representatives and second derivative filter technique on Carcinoma image. The conventional segmentation algorithm is widely deployed in medical care image, in spite of its advantages; being able to produce a complete division of the image, but it contains major drawbacks represented by the over-segmentations and sensitivity to false edges. This study will expose these major problems of the conventional algorithm and fixing these problems via deploying Cluster Representatives; that uses a set of pixels as representatives that represent the clusters and producing advanced results. The other process deployed is a second derivative filter applied to the segmented image resulting of the demolition of unwanted region from the image. Nevertheless, results of this study has proved that the number of partitions in medical care images are much fewer when comparing partitions produced by deploying the traditional algorithm deployed in medical care images. Such result will assist experts to easily diagnose health problems in a more accurate measure.
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