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Alfardan J.,King Fahad Specialist Hospital Dammam | Mohsen A.-W.,University of Pittsburgh | Copeland S.,University of Iowa | Ellison J.,Mayo Medical School | And 8 more authors.
Molecular Genetics and Metabolism | Year: 2010

Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency, is a recently described autosomal recessive disorder of isoleucine metabolism. Most patients reported thus far have originated from a founder mutation in the Hmong Chinese population. While the first reported patients had severe disease, most of the affected Hmong have remained asymptomatic. In this study, we describe 11 asymptomatic non-Hmong patients brought to medical attention by elevated C5-carnitine found by newborn screening and one discovered because of clinical symptoms. The diagnosis of SBCAD deficiency was determined by metabolite analysis of blood, urine, and fibroblast samples. PCR and bidirectional sequencing were performed on genomic DNA from five of the patients covering the entire SBCAD (ACADSB) gene sequence of 11 exons. Sequence analysis of genomic DNA from each patient identified variations in the SBCAD gene not previously reported. Escherichia coli expression studies revealed that the missense mutations identified lead to inactivation or instability of the mutant SBCAD enzymes. These findings confirm that SBCAD deficiency can be identified through newborn screening by acylcarnitine analysis. Our patients have been well without treatment and call for careful follow-up studies to learn the true clinical impact of this disorder. © 2010 Elsevier Inc. Source


Abu-Farha M.,Dasman Diabetes Institute | Tiss A.,Dasman Diabetes Institute | Abubaker J.,Dasman Diabetes Institute | Khadir A.,Dasman Diabetes Institute | And 13 more authors.
PLoS ONE | Year: 2013

Sedentary lifestyle and excessive energy intake are prominent contributors to obesity; a major risk factors for the development of insulin resistance, type 2 diabetes and cardiovascular diseases. Elucidating the molecular mechanisms underlying these chronic conditions is of relevant importance as it might lead to the identification of novel anti-obesity targets. The purpose of the current study is to investigate differentially expressed proteins between lean and obese subjects through a shot-gun quantitative proteomics approach using peripheral blood mononuclear cells (PBMCs) extracts as well as potential modulation of those proteins by physical exercise. Using this approach, a total of 47 proteins showed at least 1.5 fold change between lean and obese subjects. In obese, the proteomic profiling before and after 3 months of physical exercise showed differential expression of 38 proteins. Thrombospondin 1 (TSP1) was among the proteins that were upregulated in obese subjects and then decreased by physical exercise. Conversely, the histone deacetylase 4 (HDAC4) was downregulated in obese subjects and then induced by physical exercise. The proteomic data was further validated by qRT-PCR, Western blot and immunohistochemistry in both PBMCs and adipose tissue. We also showed that HDAC4 levels correlated positively with maximum oxygen consumption (VO2 Max) but negatively with body mass index, percent body fat, and the inflammatory chemokine RANTES. In functional assays, our data indicated that ectopic expression of HDAC4 significantly impaired TNF-α-dependent activation of NF-κB, establishing thus a link between HDAC4 and regulation of the immune system. Together, the expression pattern of HDAC4 in obese subjects before and after physical exercise, its correlation with various physical, clinical and metabolic parameters along with its inhibitory effect on NF-κB are suggestive of a protective role of HDAC4 against obesity. HDAC4 could therefore represent a potential therapeutic target for the control and management of obesity and presumably insulin resistance. © 2013 Abu-Farha et al. Source


Ghanem H.M.,King Fahad Specialist Hospital Dammam | Abou-Alia A.M.,King Fahad Specialist Hospital Dammam | Alsirafy S.A.,Cairo University
American Journal of Hospice and Palliative Medicine | Year: 2013

Little is known about the pattern of methicillin-resistant Staphylococcus aureus (MRSA) colonization and infection in hospitalized palliative care (PC) patients. We reviewed 854 admissions for 289 patients with advanced cancer managed by a PC service in a tertiary care hospital. The MRSA screening was performed at least once in 228 (79%) patients, and 21 (9%) of them were MRSA positive. Other cultures were done in 251 (86.8%) patients, and 8 (3%) patients were MRSA positive. The total number of MRSA-positive admissions was 28 (3%), with a median admission duration of 8 days. A substantial proportion of hospitalized PC patients with cancer are MRSA positive. Research is required to study the impact of infection control measures on the quality of PC delivered to MRSA-positive terminally ill patients in hospitals. © The Author(s) 2012. Source


Alsirafy S.A.,Cairo University | Abou-Alia A.M.,King Fahad Specialist Hospital Dammam | Ghanem H.M.,King Fahad Specialist Hospital Dammam
American Journal of Hospice and Palliative Medicine | Year: 2015

Hospital length of stay (LoS) may be used to assess end-of-life care aggressiveness and health care delivery efficiency. We describe the terminal hospitalization LoS of patients with cancer managed by a hospital-based palliative care (PC) program comprising a palliative care consultation (PCC) service and an inpatient palliative care unit (PCU). A total of 328 in-hospital cancer deaths were divided into 2 groups. The PCU group included patients admitted by the PC team directly to the PCU. The PCC group included patients admitted by other specialties and referred to the PCC team. The LoS of the PCU group was significantly shorter than that of the PCC group (9.9 [±9.4] vs 17.8 [±19.7] days, respectively; P <.001). Direct terminal hospitalization to PCU is not associated with longer LoS among cancer deaths managed by a hospital-based PC service. © The Author(s) 2013. Source


Elsammak M.Y.,King Fahad Specialist Hospital Dammam | Elsammak M.Y.,Alexandria University | Attia A.,King Fahad Specialist Hospital Dammam | Attia A.,Zagazig University | And 6 more authors.
Tumor Biology | Year: 2012

Pleural effusion is a commonly encountered problem in clinical practice, and pleural fluid analysis is usually the first step towards identifying the underlying etiology. Numerous studies have been published analyzing the potential utility of measuring biomarkers in pleural fluid as possible indicators of a malignant effusion; however, there are no studies that have examined the presence of human epididymis 4 (HE4) in pleural effusions. The aims of this study were to assess pleural effusion and serum concentrations of HE4 in patients with different types of pleural effusions and to evaluate the diagnostic performance of HE4 in detecting malignant pleural effusion. A prospective cohort study was carried out of 88 consecutive patients presenting with pleural effusions. The patients were divided into three groups: 22 patients with transudative effusions, 32 patients with non-malignant exudative effusions, and 34 patients with malignant pleural effusions. Blood and pleural fluid HE4 levels were measured using immunoassay. Both serum HE4 levels and pleural effusion HE4 levels were significantly higher in patients with malignant effusions than in patients with transudative or non-malignant exudative effusions. A pleural fluid HE4 cutoff value of 1,675 pmol/L was found to predict malignant pleural effusions with a diagnostic sensitivity of 85.3 % and specificity of 90.7 %. The current study reports a novel finding of increased serum and pleural fluid HE4 levels in patients with malignant effusions compared to non-malignant effusions. This finding has the potential to strengthen the diagnostic performance of tumor markers in detecting malignant pleural effusions. © 2012 International Society of Oncology and BioMarkers (ISOBM). Source

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