24 results on '"Imaduddin, I."'
Search Results
2. Recurring Nova RS Oph spectroscopic observation at Bosscha Observatory and ITERA Astronomical Observatory (IAO)
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Imaduddin, I., primary, Fajrin, M., additional, Muztaba, R., additional, Hafizah, I., additional, Akbar, E. I., additional, and Malasan, H. L., additional
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- 2022
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3. Capacity determination of ZnCo0.26O1.63–N0.18C0.82 derived from bimetallic zeolitic imidazolate framework as anode in sodium-ion battery.
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Imaduddin, I. S., Majid, S. R., Kamaruddin, N. S., Yusoff, N. F. M., and Idris, N. H.
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FIELD emission electron microscopy ,METAL-organic frameworks ,SODIUM ions ,X-ray microscopy ,ANODES ,POWDERS - Abstract
A bimetallic Zn–Co-ZIF derived from metal organic framework was successfully synthesized via simple co-precipitation method. The as-synthesized bimetallic MOF powder was then pyrolyzed at 600 °C, 700 °C, 800 °C, and 900 °C in N
2 atmosphere, which changed the morphology and structure of the final product evidenced from field emission scanning electron microscopy and X-ray diffraction. The electrochemical results revealed that the change in elemental composition affected the specific capacity, cycling stability, and rate capability for each sample. The galvanostatic charge–discharge results showed that C600 achieved the highest specific capacity and rate capability compared to other samples heated at higher temperatures. On the other hand, C900, the sample heated at the highest temperature exhibited the best capacity retention after 50 cycles at 78% after the initial discharge whilst providing the lowest reversible discharge capacity at 45 mAh g−1 . [ABSTRACT FROM AUTHOR]- Published
- 2022
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4. Optical spectroscopy of nova ASASSN-17hx at Bosscha Observatory
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Adhyaqsa, A, primary, Istiqomah, A N, additional, Ramadhan, D G, additional, Imaduddin, I, additional, Malasan, H L, additional, Arai, A, additional, and Kawakita, H, additional
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- 2019
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5. Comparison of Adiposomal Lipids between Obese and Non-Obese Individuals.
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Hussein M, Mirza I, Morsy M, Mostafa A, Hassan C, Masrur M, Bianco FM, Papasani S, Levitan I, and Mahmoud AM
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Our recent findings revealed that human adipose tissues (AT)-derived extracellular vesicles (adiposomes) vary in cargo among obese and lean individuals. The main objective of this study was to investigate the adiposomal lipid profiles and their correlation with cardiometabolic risk factors. AT samples were collected from obese subjects and lean controls and analyzed for their characteristics and lipid content. In addition, we measured the correlation between adiposomal lipid profiles and body composition, glucose and lipid metabolic profiles, brachial artery vasoreactivity, AT arteriolar flow-induced dilation, and circulating markers such as IL-6, C-reactive protein, and nitric oxide (NO). Compared to lean controls, adiposomes isolated from obese subjects were higher in number after normalization to AT volume. The two major lipid classes differentially expressed were lysophosphatidylcholine/phosphatidylcholine (LPC/PC) and ceramides (Cer). All lipids in the LPC/PC class were several-fold lower in adiposomes from obese subjects compared to lean controls, on top of which were PC 18:2, PC 18:1, and PC 36:3. Most ceramides were markedly upregulated in the obese group, especially Cer d37:0, Cer d18:0, and Cer d39:0. Regression analyses revealed associations between adiposomal lipid profiles and several cardiometabolic risk factors such as body mass index (BMI), fat percentage, insulin resistance, arteriolar and brachial artery vasoreactivity, NO bioavailability, and high-density lipoproteins (HDL-C). We conclude that the ability of adiposomes from obese subjects to disrupt cardiometabolic function could be partly attributed to the dysregulated lipid cargo.
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- 2024
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6. Adiposomes from Obese-Diabetic Individuals Promote Endothelial Dysfunction and Loss of Surface Caveolae.
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Mirza I, Haloul M, Hassan C, Masrur M, Mostafa A, Bianco FM, Ali MM, Minshall RD, and Mahmoud AM
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- Humans, Caveolae metabolism, Endothelial Cells metabolism, Lipid Droplets metabolism, Signal Transduction, src-Family Kinases metabolism, Vascular Diseases metabolism, Diabetes Mellitus, Type 2 metabolism
- Abstract
Glycosphingolipids (GSLs) are products of lipid glycosylation that have been implicated in the development of cardiovascular diseases. In diabetes, the adipocyte microenvironment is characterized by hyperglycemia and inflammation, resulting in high levels of GSLs. Therefore, we sought to assess the GSL content in extracellular vesicles derived from the adipose tissues (adiposomes) of obese-diabetic (OB-T2D) subjects and their impact on endothelial cell function. To this end, endothelial cells were exposed to adiposomes isolated from OB-T2D versus healthy subjects. Cells were assessed for caveolar integrity and related signaling, such as Src-kinase and caveolin-1 (cav-1) phosphorylation, and functional pathways, such as endothelial nitric oxide synthase (eNOS) activity. Compared with adiposomes from healthy subjects, OB-T2D adiposomes had higher levels of GSLs, especially LacCer and GM3; they promoted cav-1 phosphorylation coupled to an obvious loss of endothelial surface caveolae and induced eNOS-uncoupling, peroxynitrite generation, and cav-1 nitrosylation. These effects were abolished by Src kinase inhibition and were not observed in GSL-depleted adiposomes. At the functional levels, OB-T2D adiposomes reduced nitric oxide production, shear response, and albumin intake in endothelial cells and impaired flow-induced dilation in healthy arterioles. In conclusion, OB-T2D adiposomes carried a detrimental GSL cargo that disturbed endothelial caveolae and the associated signaling.
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- 2023
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7. Frontonasal Encephalocele Complicated With Pseudotumor Cerebri: A Case Report and Literature Review.
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Hamad A, Alageel DF, Khan AR, Joueidi F, Alyazidi AS, Ismail AB, Spangenberg P, and Kanaan I
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Primary pseudotumor cerebri syndrome (PPTS) is a rare disorder of elevated intracranial pressure (ICP) in the absence of an identifiable underlying etiology. Afflicted patients are usually obese women in their reproductive age presenting with symptoms of elevated ICP. Seldom, patients can present with an encephalocele. We reported a case of a 31-year-old female who initially presented to our center with complaints of headaches, foreign body sensation in the nasal cavity, and decreased ability to smell. Brain computed tomography (CT) scan showed a large intranasal encephalocele and defect along the frontal skull base, through which brain tissue was herniating. The patient was successfully treated surgically by implantation of a lumboperitoneal shunt to manage the high ICP caused by her PPTS. In combination, reconstruction of the frontal skull base defect for the encephalocele was performed. Currently, the patient is doing well despite some on-and-off headaches., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Hamad et al.)
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- 2023
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8. Racial Disparity in Anthracycline-induced Cardiotoxicity in Breast Cancer Patients.
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Balaji S, Antony AK, Tonchev H, Scichilone G, Morsy M, Deen H, Mirza I, Ali MM, and Mahmoud AM
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Breast cancer has become the most common cancer in the US and worldwide. While advances in early detection and treatment have resulted in a 40% reduction in breast cancer mortality, this reduction has not been achieved uniformly among racial groups. A large percentage of non-metastatic breast cancer mortality is related to the cardiovascular effects of breast cancer therapies. These effects appear to be more prevalent among patients from historically marginalized racial/ethnic backgrounds, such as African American and Hispanic individuals. Anthracyclines, particularly doxorubicin and daunorubicin, are the first-line treatments for breast cancer patients. However, their use is limited by their dose-dependent and cumulative cardiotoxicity, manifested by cardiomyopathy, ischemic heart disease, arrhythmias, hypertension, thromboembolic disorders, and heart failure. Cardiotoxicity risk factors, such as genetic predisposition and preexisting obesity, diabetes, hypertension, and heart diseases, are more prevalent in racial/ethnic minorities and undoubtedly contribute to the risk. Yet, beyond these risk factors, racial/ethnic minorities also face unique challenges that contribute to disparities in the emerging field of cardio-oncology, including socioeconomic factors, food insecurity, and the inability to access healthcare providers, among others. The current review will address genetic, clinical, and social determinants that potentially contribute to this disparity.
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- 2023
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9. Monkeypox: Is it the new pandemic?
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Sawal I, Tariq R, Bint-E-Shuaib S, Khan AA, Ullah I, and Nashwan AJ
- Abstract
Competing Interests: Abdulqadir J. Nashwan is an Editorial Board member of Health Science Reports and coauthor of this article. He is excluded from editorial decision‐making related to the acceptance of this article for publication in the journal. The authors declare no conflict of interest.
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- 2022
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10. Obesity-Associated Vitamin D Deficiency Correlates with Adipose Tissue DNA Hypomethylation, Inflammation, and Vascular Dysfunction.
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Mirza I, Mohamed A, Deen H, Balaji S, Elsabbahi D, Munasser A, Naquiallah D, Abdulbaseer U, Hassan C, Masrur M, Bianco FM, Ali MM, and Mahmoud AM
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- Humans, Adipose Tissue metabolism, Obesity complications, Obesity genetics, Obesity metabolism, Inflammation metabolism, Adipokines metabolism, DNA metabolism, DNA Methylation, Vitamin D Deficiency complications, Vitamin D Deficiency genetics, Vitamin D Deficiency metabolism
- Abstract
Vitamin D (VD) deficiency is a hallmark of obesity and vascular dysfunction. We sought to test the hypothesis that VD deficiency may contribute to obesity-related vascular dysfunction by inducing adipokine hypomethylation and augmented expression. To this end, we collected blood and adipose tissues (ATs) from a cohort of 77 obese participants who were classified as having mild, moderate, or severe VD deficiency. The body composition, vascular reactivity, cardiometabolic profiles, and DNA methylation of 94 inflammation-related adipokines were measured. Our results show that higher degrees of VD deficiency were associated with lower DNA methylation and induced the expression of inflammatory adipokines such as B-cell lymphoma 6 ( BCL6 ), C-X-C Motif Chemokine Ligand 8 ( CXCL8 ), histone deacetylase 5 ( HDAC5 ), interleukin 12A ( IL12A ), and nuclear factor κB ( NFκB ) in the ATs. They were also associated with higher BMI and total and visceral fat mass, impaired insulin sensitivity and lipid profiles, AT hypoxia, and higher concentrations of circulating inflammatory markers. Moderate and severe VD deficiency correlated with impaired vasoreactivity of the brachial artery and AT-isolated arterioles, reduced nitric oxide generation, and increased arterial stiffness. In a multivariate regression analysis, the VD deficiency level strongly predicted the adipokine methylation score, systemic inflammation, and microvascular dysfunction. In conclusion, our findings suggest that VD deficiency is a possible contributor to obesity-related adipokine hypomethylation, inflammation, and vascular dysfunction.
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- 2022
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11. DNA Hypomethylation as a Potential Link between Excessive Alcohol Intake and Cardiometabolic Dysfunction in Morbidly Obese Adults.
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Mirza I, Naquiallah D, Mohamed A, Abdulbaseer U, Hassan C, Masrur M, Ali MM, Phillips SA, and Mahmoud AM
- Abstract
A large percentage of obese patients in the United States suffer a comorbid substance use disorder, mainly alcohol use. Alcohol consumption interferes with the absorption of dietary methyl donors such as folate required for the one-carbon metabolism pathway and subsequently for DNA methylation. In this study, we assessed the association between alcohol consumption and DNA methylation in obese subjects. We obtained visceral adipose tissue (VAT) biopsies from bariatric patients. DNA methylation of 94 genes implicated in inflammation and immunity were analyzed in VAT in relation to alcohol consumption data obtained via questionnaires. Vasoreactivity was measured in the brachial artery and the VAT-isolated arterioles. Pro-inflammatory genes were significantly hypomethylated in the heavy drinking category correlating with higher levels of circulating inflammatory cytokines. Alcohol consumption correlated positively with body mass index (BMI), fat percentage, insulin resistance, impaired lipid profile, and systemic inflammation and negatively with plasma folate and vitamin B12, inflammatory gene DNA methylation, and vasoreactivity. In conclusion, these data suggest that alcohol intake is associated with lower DNA methylation and higher inflammation and cardiometabolic risk in obese individuals.
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- 2022
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12. The dire need for improved management of chronic kidney disease: Associated hypertension in Pakistan.
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Mansoor H, Siddiqui MK, and Sawal I
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- Humans, Pakistan epidemiology, Hypertension drug therapy, Hypertension epidemiology, Renal Insufficiency, Chronic complications, Renal Insufficiency, Chronic epidemiology, Renal Insufficiency, Chronic therapy
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- 2022
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13. CD147 Levels in Blood and Adipose Tissues Correlate with Vascular Dysfunction in Obese Diabetic Adults.
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Ali MM, Mirza I, Naquiallah D, Hassan C, Masrur M, Bianco FM, and Mahmoud AM
- Abstract
CD147 is a glycoprotein that stimulates the production of matrix metalloproteinases (MMPs), known contributors to cardiovascular risk. The activity of CD147 protein depends on its glycosylation. However, it is unclear whether CD147 protein expression or glycosylation are influenced by the diabetic milieu characterized by hyperglycemia and abundant glycation-end-products (AGEs). We examined the circulating and visceral adipose tissue (VAT) levels of CD147 and their correlation with vascular function in obese, obese diabetic, and non-obese controls ( n = 40, each). The circulating levels of CD147 and the glycosylated CD147 protein in VAT were considerably higher in obese, particularly obese diabetic subjects compared to controls. Obese diabetics had the lowest brachial and arteriolar vasoreactivity and the highest carotid pulse-wave velocity (PWV, a measure of arterial stiffness) among the three groups. CD147 correlated positively with body mass index (BMI), total and visceral fat mass, PWV, and plasma levels of glucose, insulin, MMPs, and AGEs and negatively with brachial artery and VAT-arteriolar vasoreactivity and nitric oxide production. Multivariate regression revealed that BMI, body fat mass, insulin, and glucose levels significantly predicted CD147. Our data suggest that higher levels of CD147 in obese subjects, particularly those with diabetes, are linked to vascular dysfunction and several cardiometabolic risk factors.
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- 2021
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14. Adipose Tissue Hypoxia Correlates with Adipokine Hypomethylation and Vascular Dysfunction.
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Ali MM, Hassan C, Masrur M, Bianco FM, Naquiallah D, Mirza I, Frederick P, Fernandes ET, Giulianotti CP, Gangemi A, Phillips SA, and Mahmoud AM
- Abstract
Obesity is characterized by the accumulation of dysfunctional adipose tissues, which predisposes to cardiometabolic diseases. Our previous in vitro studies demonstrated a role of hypoxia in inducing adipokine hypomethylation in adipocytes. We sought to examine this mechanism in visceral adipose tissues (VATs) from obese individuals and its correlation with cardiometabolic risk factors. We propose an involvement of the hypoxia-inducible factor, HIF1α, and the DNA hydroxymethylase, TET1. Blood samples and VAT biopsies were obtained from obese and non-obese subjects ( n = 60 each) having bariatric and elective surgeries, respectively. The analyses of VAT showed lower vascularity, and higher levels of HIF1α and TET1 proteins in the obese subjects than controls. Global hypomethylation and hydroxymethylation were observed in VAT from obese subjects along with promoter hypomethylation of several pro-inflammatory adipokines. TET1 protein was enriched near the promotor of the hypomethylated adipokines. The average levels of adipokine methylation correlated positively with vascularity and arteriolar vasoreactivity and negatively with protein levels of HIF1α and TET1 in corresponding VAT samples, serum and tissue inflammatory markers, and other cardiometabolic risk factors. These findings suggest a role for adipose tissue hypoxia in causing epigenetic alterations, which could explain the increased production of adipocytokines and ultimately, vascular dysfunction in obesity.
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- 2021
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15. Insomnia among Prison Officers and Its Relationship with Occupational Burnout: The Role of Coping with Stress in Polish and Indonesian Samples.
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Sygit-Kowalkowska E, Piotrowski A, and Hamzah I
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- Adaptation, Psychological, Humans, Indonesia epidemiology, Poland epidemiology, Prisons, Burnout, Professional epidemiology, Sleep Initiation and Maintenance Disorders epidemiology
- Abstract
Thus far, data on sleep disorders among prison officers (POs) have been scarce. Research allows us to relate this problem to occupational stress, which POs experience every day. The aim of the current study was to analyze the scale, predictors, and impact of select factors on the relationship between insomnia and occupational burnout. This study was carried out on a sample of 376 Indonesian and 288 Polish POs using the Athens Insomnia Scale (AIS), the Coping Orientation to Problems Experienced (COPE) inventory, and the Oldenburg Burnout Inventory (OLBI). Results showed that 43.4% of the Polish sample exhibited early symptoms of insomnia, compared to 26.1% of the Indonesian sample. Sleep disorders had a significant role in developing occupational burnout. In both samples, coping strategies such as help-seeking and engagement were revealed to have a mediating role in the relationship between insomnia and occupational burnout dimensions. For the total sample and for the Polish sample, the coping strategy of help-seeking was the only predictor of insomnia. Discrepancies (concerning the role of age, gender, and multi-shift work) were observed between the current results and earlier studies. The current study's limitations were discussed and new solutions were proposed.
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- 2021
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16. Work Engagement among Prison Officers. The Role of Individual and Organizational Factors in the Polish and Indonesian Penitentiary Systems.
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Piotrowski A, Sygit-Kowalkowska E, and Hamzah I
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- Adaptation, Psychological, Humans, Indonesia, Poland, Prisons, Work Engagement
- Abstract
The literature on work engagement among prison officers (POs) remains rather scarce, and there are no analyses on the factors determining this phenomenon. The current study aimed to examine the relationships between work engagement, subjective well-being, coping strategies, and organizational factors utilizing the Utrecht Work Engagement Scale (UWES-9), the Coping Orientation to Problems Experienced (COPE), and Cantril's Ladder of Health Scale (CLHS), and involving 312 POs from Poland and 467 POs from Indonesia. Results showed a statistically significant relationship between active coping and work engagement in both groups. Subjective well-being was moderately related to work engagement among Polish POs. Mean work engagement and subjective well-being scores were higher among Indonesian POs. The analyses showed a significant indirect effect of subjective well-being for the relationship between penitentiary unit type, active coping, as well as avoidant behaviors and work engagement in the Polish group. Closed prison officers more often declared higher subjective well-being. Work engagement is a complex psychological phenomenon. There exists a justified need for the analyses to consider personal determinants (e.g., coping strategies) as well as organizational factors related to the POs' work environment. The literature presents a broad picture of the benefits of studying this phenomenon.
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- 2020
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17. Vision-based lane departure warning framework.
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Em PP, Hossen J, Fitrian I, and Wong EK
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Collisions arising from lane departures have contributed to traffic accidents causing millions of injuries and tens of thousands of casualties per year worldwide. Many related studies had shown that single vehicle lane departure crashes accounted largely in road traffic deaths that results from drifting out of the roadway. Hence, automotive safety has becoming a concern for the road users as most of the road casualties occurred due to driver's fallacious judgement of vehicle path. This paper proposes a vision-based lane departure warning framework for lane departure detection under daytime and night-time driving environments. The traffic flow and conditions of the road surface for both urban roads and highways in the city of Malacca are analysed in terms of lane detection rate and false positive rate. The proposed vision-based lane departure warning framework includes lane detection followed by a computation of a lateral offset ratio. The lane detection is composed of two stages: pre-processing and detection. In the pre-processing, a colour space conversion, region of interest extraction, and lane marking segmentation are carried out. In the subsequent detection stage, Hough transform is used to detect lanes. Lastly, the lateral offset ratio is computed to yield a lane departure warning based on the detected X -coordinates of the bottom end-points of each lane boundary in the image plane. For lane detection and lane departure detection performance evaluation, real-life datasets for both urban roads and highways in daytime and night-time driving environments, traffic flows, and road surface conditions are considered. The experimental results show that the proposed framework yields satisfactory results. On average, detection rates of 94.71% for lane detection rate and 81.18% for lane departure detection rate were achieved using the proposed frameworks. In addition, benchmark lane marking segmentation methods and Caltech lanes dataset were also considered for comparison evaluation in lane detection. Challenges to lane detection and lane departure detection such as worn lane markings, low illumination, arrow signs, and occluded lane markings are highlighted as the contributors to the false positive rates.
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- 2019
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18. Knowledge, attitude, and practice regarding dengue virus infection among inhabitants of Aceh, Indonesia: a cross-sectional study.
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Harapan H, Rajamoorthy Y, Anwar S, Bustamam A, Radiansyah A, Angraini P, Fasli R, Salwiyadi S, Bastian RA, Oktiviyari A, Akmal I, Iqbalamin M, Adil J, Henrizal F, Darmayanti D, Pratama R, Setiawan AM, Mudatsir M, Hadisoemarto PF, Dhimal ML, Kuch U, Groneberg DA, Imrie A, Dhimal M, and Müller R
- Subjects
- Adult, Cross-Sectional Studies, Family Characteristics, Female, Housing statistics & numerical data, Humans, Income statistics & numerical data, Indonesia epidemiology, Male, Occupations statistics & numerical data, Social Class, Surveys and Questionnaires, Young Adult, Dengue diagnosis, Dengue epidemiology, Dengue therapy, Dengue Virus physiology, Health Knowledge, Attitudes, Practice
- Abstract
Background: The Indonesian region of Aceh was the area most severely affected by the earthquake and tsunami of 26 December 2004. Department of Health data reveal an upward trend of dengue cases in Aceh since the events of the tsunami. Despite the increasing incidence of dengue in the region, there is limited understanding of dengue among the general population of Aceh. The aim of this study was to assess the knowledge, attitude, and practice (KAP) regarding dengue among the people of Aceh, Indonesia in order to design intervention strategies for an effective dengue prevention program., Methods: A community-based cross-sectional study was conducted in Aceh between November 2014 and March 2015 with a total of 609 participants living in seven regencies and two municipalities. Information on the socio-demographic characteristics of participants and their KAP regarding dengue was collected using a pre-tested structured questionnaire. The KAP status (good vs. poor) of participants with different socio-demographic characteristics was compared using Chi Square-test, ANOVA or Fisher's exact test as appropriate. Logistic regression analysis was used to determine the predictors of each KAP domain., Results: We found that 45% of participants had good knowledge regarding dengue and only 32% had good attitudes and good dengue preventive practices. There was a significant positive correlation between knowledge and attitudes, knowledge and practice, and attitudes and practice. In addition, people who had good knowledge were 2.7 times more likely to have good attitudes, and people who had good attitudes were 2.2 times more likely to have good practices regarding dengue. The level of education, occupation, marital status, monthly income, socioeconomic status (SES) and living in the city were associated with the knowledge level. Occupation, SES, and having experienced dengue fever were associated with attitudes. Education, occupation, SES and type of residence were associated with preventive practices., Conclusion: Our study suggests that dengue prevention programs are required to increase KAP levels regarding dengue in the communities of Aceh.
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- 2018
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19. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
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Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, and Alkuraya FS
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- Consanguinity, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Molecular Sequence Annotation, Morbidity, Mutation, Phenotype, Reproducibility of Results, Saudi Arabia epidemiology, Sequence Analysis, DNA, Exome, Genetic Diseases, Inborn diagnosis, Genetic Diseases, Inborn epidemiology, Genome, Human
- Abstract
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
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- 2017
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20. Modifiable determinants of attitude towards dengue vaccination among healthy inhabitants of Aceh, Indonesia: Findings from a community-based survey.
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Harapan H, Anwar S, Bustaman A, Radiansyah A, Angraini P, Fasli R, Salwiyadi S, Bastian RA, Oktiviyari A, Akmal I, Iqbalamin M, Adil J, Henrizal F, Darmayanti D, Pratama R, Fajar JK, Setiawan AM, Dhimal ML, Kuch U, Groneberg DA, Sasmono RT, Dhimal M, and Mueller R
- Abstract
Objective: To explore and understand the attitude towards dengue vaccination and its modifiable determinants among inhabitants of Aceh (northern Sumatra Island, Indonesia), the region that was most severely affected by the earthquake and tsunami of 26 December 2004., Methods: A community-based, cross-sectional study was conducted among 535 healthy inhabitants in nine regencies (Kabupaten or Kotamadya) of Aceh that were selected randomly from November 2014 to March 2015. A set of validated, pre-tested, structured questionnaires was used to guide the interviews. The questionnaires covered a range of explanatory variables and one outcome variable (attitude to dengue vaccination). Multi-step logistic regression analysis and Spearman's rank correlation were used to test the role of explanatory variables for the outcome variable., Results: More than 70% of the participants had a poor attitude towards dengue vaccination. Modifiable determinants associated with poor attitude to dengue vaccination were low education level, working as farmers and traditional market traders, low socioeconomic status and poor knowledge, attitude and practice regarding dengue fever (P < 0.05). The KAP domain scores were correlated strongly with attitude to dengue vaccination, rs = 0.25, rs = 0.67 and rs = 0.20, respectively (P < 0.001). Multivariate analysis found that independent predictors associated with attitude towards dengue vaccination among study participants were only sex and attitude towards dengue fever (P < 0.001)., Conclusions: This study reveals that low KAP regarding dengue fever, low education level and low socioeconomic status are associated with a poor attitude towards dengue vaccination. Therefore, inhabitants of suburbs who are working as farmers or traditional market traders with low socioeconomic status are the most appropriate target group for a dengue vaccine introduction program., (Copyright © 2016 Hainan Medical University. Production and hosting by Elsevier B.V. All rights reserved.)
- Published
- 2016
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21. Community Willingness to Participate in a Dengue Study in Aceh Province, Indonesia.
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Harapan H, Anwar S, Bustaman A, Radiansyah A, Angraini P, Fasli R, Salwiyadi S, Bastian RA, Oktiviyari A, Akmal I, Iqbalamin M, Adil J, Henrizal F, Darmayanti D, Pratama R, Fajar JK, Setiawan AM, Imrie A, Kuch U, Groneberg DA, Sasmono RT, Dhimal M, and Müller R
- Subjects
- Adolescent, Adult, Aged, Female, Humans, Indonesia epidemiology, Male, Middle Aged, Prevalence, Surveys and Questionnaires, Young Adult, Community Participation psychology, Dengue epidemiology
- Abstract
Background: Dengue virus infection is the most rapidly spreading vector-borne disease in the world. Essential research on dengue virus transmission and its prevention requires community participation. Therefore, it is crucial to understand the factors that are associated with the willingness of communities in high prevalence areas to participate in dengue research. The aim of this study was to explore factors associated with the willingness of healthy community members in Aceh province, Indonesia, to participate in dengue research that would require phlebotomy., Methodology/principal Findings: A community-based cross-sectional study was carried out in nine regencies and municipalities of Aceh from November 2014 to March 2015. Interviews using a set of validated questionnaires were conducted to collect data on demography, history of dengue infection, socioeconomic status, and knowledge, attitude and practice regarding dengue fever. Two-step logistic regression and Spearman's rank correlation (rs) analysis were used to assess the influence of independent variables on dependent variables. Among 535 participants, less than 20% had a good willingness to participate in the dengue study. The factors associated with good willingness to participate were being female, working as a civil servant, private employee or entrepreneur, having a high socioeconomic status and good knowledge, attitude and practice regarding dengue. Good knowledge and attitude regarding dengue were positive independent predictors of willingness to participate (OR: 2.30 [95% CI: 1.36-3.90] and 3.73 [95% CI: 2.24-6.21], respectively)., Conclusion/significance: The willingness to participate in dengue research is very low among community members in Aceh, and the two most important associated factors are knowledge and attitude regarding dengue. To increase participation rate, efforts to improve the knowledge and attitude of community members regarding dengue fever and dengue-related research is required before such studies are launched.
- Published
- 2016
- Full Text
- View/download PDF
22. Differential marker expression by cultures rich in mesenchymal stem cells.
- Author
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Wetzig A, Alaiya A, Al-Alwan M, Pradez CB, Pulicat MS, Al-Mazrou A, Shinwari Z, Sleiman GM, Ghebeh H, Al-Humaidan H, Gaafar A, Kanaan I, and Adra C
- Subjects
- Adipose Tissue cytology, Antigens, CD genetics, Antigens, CD metabolism, Biomarkers metabolism, Bone Marrow Cells cytology, CD24 Antigen genetics, CD24 Antigen metabolism, CD40 Antigens genetics, CD40 Antigens metabolism, Cell Differentiation, Cells, Cultured, Female, Fibroblasts cytology, Foreskin cytology, GPI-Linked Proteins genetics, GPI-Linked Proteins metabolism, Gene Expression Profiling, Humans, Immunophenotyping, Male, Mammary Glands, Human cytology, Mesenchymal Stem Cells cytology, Semaphorins genetics, Semaphorins metabolism, Adipose Tissue metabolism, Bone Marrow Cells metabolism, Fibroblasts metabolism, Foreskin metabolism, Gene Expression, Mammary Glands, Human metabolism, Mesenchymal Stem Cells metabolism
- Abstract
Background: Mesenchymal stem cells have properties that make them amenable to therapeutic use. However, the acceptance of mesenchymal stem cells in clinical practice requires standardized techniques for their specific isolation. To date, there are no conclusive marker (s) for the exclusive isolation of mesenchymal stem cells. Our aim was to identify markers differentially expressed between mesenchymal stem cell and non-stem cell mesenchymal cell cultures. We compared and contrasted the phenotype of tissue cultures in which mesenchymal stem cells are rich and rare. By initially assessing mesenchymal stem cell differentiation, we established that bone marrow and breast adipose cultures are rich in mesenchymal stem cells while, in our hands, foreskin fibroblast and olfactory tissue cultures contain rare mesenchymal stem cells. In particular, olfactory tissue cells represent non-stem cell mesenchymal cells. Subsequently, the phenotype of the tissue cultures were thoroughly assessed using immuno-fluorescence, flow-cytometry, proteomics, antibody arrays and qPCR., Results: Our analysis revealed that all tissue cultures, regardless of differentiation potential, demonstrated remarkably similar phenotypes. Importantly, it was also observed that common mesenchymal stem cell markers, and fibroblast-associated markers, do not discriminate between mesenchymal stem cell and non-stem cell mesenchymal cell cultures. Examination and comparison of the phenotypes of mesenchymal stem cell and non-stem cell mesenchymal cell cultures revealed three differentially expressed markers - CD24, CD108 and CD40., Conclusion: We indicate the importance of establishing differential marker expression between mesenchymal stem cells and non-stem cell mesenchymal cells in order to determine stem cell specific markers.
- Published
- 2013
- Full Text
- View/download PDF
23. Granular cell meningioma. A case report.
- Author
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Lach B and Kanaan I
- Subjects
- Aged, 80 and over, Granular Cell Tumor metabolism, Humans, Immunohistochemistry, Male, Meningeal Neoplasms metabolism, Meningioma metabolism, Microscopy, Electron, Transmission, Granular Cell Tumor pathology, Meningeal Neoplasms pathology, Meningioma pathology
- Abstract
We describe a granular cell tumour developing in clear cell meningioma of the falx. Granular and clear cells showed immunoreactivity for vimentin, epithelial membrane antigen and progesterone receptors. This is the first case documenting arachnoid origin of neoplastic granular cells in meningioma.
- Published
- 2007
24. Severe hypertension secondary to renal artery stenosis and Cushing's syndrome.
- Author
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Alzahrani AS, Al-Hajjaj A, Al-Watban J, and Kanaan I
- Subjects
- Adrenocorticotropic Hormone blood, Adult, Humans, Hydrocortisone urine, Middle Aged, Cushing Syndrome complications, Hypertension complications, Renal Artery Obstruction complications
- Abstract
We present an unusual patient who simultaneously had severe renal artery stenosis RAS and Cushing's syndrome. The case highlights the difficulty of reaching a specific diagnosis of Cushing's syndrome and the possible interaction between Cushing's syndrome and some other concurrent illnesses that this patient had. A 37-year old man presented with severe hypertension HTN and uncontrolled diabetes mellitus DM without clear physical signs of Cushing's syndrome. He was found to have severe osteoporosis, proximal myopathy, several cutaneous warts, tinea versicolor, and chronic viral hepatitis. Captopril-stimulated renal scan and renal artery angiogram revealed severe RAS. Partial balloon dilatation of RAS led to improvement in HTN. Unexpectedly, urine free cortisol 24 hour was found extremely high. Serum adrenocorticotropic hormone ACTH was also elevated and high dose dexamethasone suppression tests were inconclusive. Several imaging studies failed to localize the source of ACTH. Despite normal MRI of the pituitary gland, bilateral inferior petrosal sinus sampling IPSS localized the source of ACTH secretion to the right side of the pituitary gland and right anterior hemihypophysectomy resulted in cure of Cushing's disease, HTN, DM, and tinea versicolor with significant improvement in cutaneous warts, osteoporosis, and chronic hepatitis. In conclusion, RAS and Cushing's syndrome may occur together. Significant hypercortisolemia can occur without clear signs of Cushing's syndrome. Controlling hypercortisolemia is of paramount importance when treating chronic infections in patients with Cushing's syndrome.
- Published
- 2005
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