Al-Mayouf S.M.,King Faisal Specialist Hospital And Research Center |
Sunker A.,King Faisal Specialist Hospital And Research Center |
Abdwani R.,Sultan Qaboos University |
Abrawi S.A.,Royal Hospital |
And 16 more authors.
Nature Genetics | Year: 2011
Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis. © 2011 Nature America, Inc. All rights reserved.
Aldahmesh M.A.,King Faisal Specialist Hospital And Research Center |
Mohamed J.Y.,King Faisal Specialist Hospital And Research Center |
Alkuraya H.S.,King Faisal Specialist Hospital And Research Center |
Alkuraya H.S.,King Fahad National Guard Hospital |
And 7 more authors.
American Journal of Human Genetics | Year: 2011
Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. However, biallelic ELOVL4 mutations have not been observed in humans, and murine models with homozygous mutations die within hours of birth as a result of a defective epidermal water barrier. Here, we report on two human individuals with recessive ELOVL4 mutations revealed by a combination of autozygome analysis and exome sequencing. These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity - a constellation that resembles Sjögren-Larsson syndrome (SLS) but presents a more severe neurologic phenotype. Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development. © 2011 The American Society of Human Genetics.
Alkushi A.,King Fahad National Guard Hospital |
Kobel M.,University of Calgary |
Kobel M.,Genetic Pathology Evaluation Center |
Kalloger S.E.,University of British Columbia |
Gilks C.B.,University of British Columbia
International Journal of Gynecological Pathology | Year: 2010
High-grade endometrial carcinomas are a heterogeneous group of tumors and include grade 3 endometrioid (EC-3), serous (SC), and clear cell carcinomas (CCC). There are conflicting data about the prognosis of these subtypes of high-grade endometrial carcinoma; this may be a result of lack of reproducibility in classifying tumor cell type. The purpose of this study was to examine differences in immunophenotype and outcome in a series of high-grade endometrial carcinomas, focusing on the comparison of EC-3 versus SC. We selected 180 endometrial carcinomas of SC, EC, or CCC type. No mixed carcinomas were included in the study. We chose the following immunohistochemical markers, estrogen receptor (ER), insulin-like growth factor 2 mRNA-binding protein 3 (IMP3), p16, p53, progesterone receptor (PR), and phosphatase and tensin homolog (PTEN) as being significantly differentially expressed in endometrial carcinoma subtypes. The tumors were stratified into 4 groups on the basis of their cell type and grade: EC grade 1 or 2, EC-3, SC, and CCC. Univariate survival analysis revealed significant differences in outcome between the 4 groups (P<0.0001), with significantly longer disease-specific survival for grade 1 or 2 EC versus EC-3 (P=0.0001), and EC-3 versus SC (P=0.0003). p16, PTEN, and IMP3 expression was observed more frequently in SC compared with EC-3 (P<0.0001, P=0.021, and P=0.031, respectively). These 3 markers showed the highest sensitivity and specificity in distinguishing between EC-3 and SC, with receiver operating characteristics area under the curve of 0.85, 0.69, and 0.71, respectively. ER and p53 approached but did not reach significance for differential expression in EC-3 versus SC (P=0.055 and P=0.068, respectively). A combination of p16 and PTEN predicts EC-3 versus SC with a sensitivity of 90.0% and specificity of 96.8%. p16 and PTEN can aid in distinguishing between EC-3 and SC of the endometrium, and are superior to ER, PR, and p53 for this purpose. EC-3 carcinomas have a significantly better prognosis than SC carcinomas of the endometrium. © 2010 International Society of Gynecological Pathologists.
AlGhamdi K.M.,King Saud University |
Almohedib M.A.,King Fahad National Guard Hospital
International Journal of Dermatology | Year: 2011
Background As the use of the Internet increases, it is important to gain insight into how it is used by patients to obtain health-related information. Objectives We aimed to explore the attitudes and practices of dermatology outpatients regarding their use of the Internet to find health information. We also aimed to investigate the consequences of this Internet use on the patient-doctor relationship. Methods A self-administered questionnaire on Internet use was given to adult dermatology outpatients attending the Dermatology Department at King Saud University, Riyadh, Saudi Arabia, from January to June 2008. Results A total of 86% (432/500) of distributed questionnaires were returned. The mean age of respondents was 29.7±10.0years. Of the respondents who answered the relevant items, 42% (185/431) were females, 87% (376/432) were Internet users, and 47% (190/404) stated that they had accessed the Internet to obtain general medical information. Younger women educated to college level and with higher incomes tended to search for online health-related information more often than other groups. More than 93% (343/367) of respondents reported that they relied on their doctors as their primary source of information, but 69% (277/401) indicated that online medical information was beneficial, and almost 8% (30/399) stated that they would always trust data obtained from the Internet. Conclusions A significant proportion of patients use the Internet to search for medical information. This has a positive effect on the patients' skin diseases and on their relationships with their doctors. Therefore, doctors should be more aware of the health-related information available online and should guide patients to reliable websites. © 2011 The International Society of Dermatology.
Alharbi F.F.,King Fahad National Guard Hospital |
El-Guebaly N.,University of Calgary
Addictive Disorders and their Treatment | Year: 2013
Objectives: Disulfiram (DSF) treatment remains a viable option as a treatment for alcohol dependence. There have been concerns about its safety, which are often used as a reason for withdrawing the treatment or as an argument against starting it. How safe is the current prescription of DSF? This paper aims to provide an update of DSF's safety-related research. Method: A systematic review of the recent literature was drawn from a comprehensive Medline (2000 to 2012) search. Case reports and clinical trials using DSF for the treatment of alcohol and/or cocaine use and/or dependence were reviewed. Result: Within the specified period, there have been 30 case reports and 8 clinical trials regarding DSF's side effects. One was a longer trial of DSF spanning >50 weeks. The case reports were related to neurological, hepatic, cardiac, dermatological, psychiatric adverse events, neuroimaging findings, and drug-drug interaction. Because of exclusion criteria, adverse events in DSF randomized double-blind clinical trials seem to be less serious and less frequent than adverse events reported postmarketing. Conclusions: With the safety recommendations in place, we consider the administration of DSF to be safe practice and within an acceptable risk profile. © 2012 by Lippincott Williams & Wilkins.
Alkhateeb S.,King Fahad National Guard Hospital |
Lawrentschuk N.,University of Melbourne
BJU International | Year: 2011
Study Type - Therapy (prevalence) Level of Evidence 2b OBJECTIVES • Many experts consider that media coverage, marketing and/or direct-to-consumer advertising, particularly Internet-based forms, are fundamental to the widespread adoption of robotic-assisted prostatectomy (RARP). However, this has not been explored previously. • The primary objective of the present study was to delineate the role of media coverage and marketing of RARP on the Internet, whereas the secondary goal focused on website quality with respect to the presentation of prostatectomy. MATERIALS AND METHODS • Website content was evaluated for direct-to-consumer advertising after the retrieval of the first 50 websites using Google and Yahoo for each of the terms: 'robotic prostatectomy, laparoscopic prostatectomy (LP) and open radical prostatectomy (ORP)'. • A linear regression analysis was performed for the annual number of Internet news hits over the last decade for each procedure. Website quality assessment was performed using WHO Honesty on the Internet (HON) code principles. RESULTS • Of the retrieved sites, the proportion containing direct-to-consumer advertising for RARP vs LP vs ORP using Google was 64% vs 14% vs 0%, respectively (P < 0.001) and, using Yahoo, 80% vs 16% vs 0%, respectively (P < 0.001). • In a linear regression analysis, the r 2 values for news hits for each year over the last 10 years were 0.89, 0.74 and 0.76 for RARP, LP and ORP, respectively. • Website quality assessment found that a minority of the websites were accredited with HONcode principles, with no difference between procedure types (P > 0.05). CONCLUSIONS • Media coverage and marketing of RARP on the Internet is more widespread compared to LP and ORP. • Disturbingly, the quality of websites using any technique for prostatectomy was of poor quality when using principles of honest information presenting and such findings need to be discussed with respect to obtaining informed consent from patients. © 2011 BJU INTERNATIONAL.
Alzahrani H.A.,King Fahad National Guard Hospital |
Yamani N.M.,King Fahad National Guard Hospital
American Journal of Case Reports | Year: 2014
Background: Situs inversus totalis is an inherited condition characterized by the mirror-image transposition of thoracic and abdominal organs. Gallbladder agenesis, which has normal bile ducts, is a rare congenital condition that occurs in 13 to 65 people out of 100 000. A common bile duct (CBD) stone or choledocholithiasis in patients with gallbladder agenesis is even rarer. Case Report: We report the case of a 68-year-old woman who presented with epigastric pain and jaundice. She was not known to have situs inversus totalis. Abdominal ultrasound showed a large stone in the CBD, which could not be extracted by endoscopic retrograde cholangiopancreatography (ERCP), necessitating exploration. The gallbladder and cystic duct were found to be absent. Incisional exploration of the CBD was performed, and a large stone was removed. A choledochoscope was used to identify the remnants and exclude the presence of ectopic gallbladder, and a T-tube was placed into the CBD. Conclusions: Gallbladder agenesis in a patient with situs inversus totalis is extremely rare, with no single reported case identified in the literature. In addition, our case showed a rare complication of ERCP - a failure to extract the CBD stone - and illustrates a way to overcome this complication. © Am J Case Rep, 2014.
Jahangiri F.R.,King Fahad National Guard Hospital
Neurodiagnostic Journal | Year: 2013
Previously, intraoperative neurophysiological monitoring was not used routinely during tibial osteotomies. In an attempt to improve the post-operative outcomes and reduce known neurologic complications, we used discrete multimodality recording and stimulation models to identify areas of motor and sensory function in eighteen (18) pediatric patients presenting with Tibia Vara (Blount's Disease). By using both posterior tibial and peroneal nerves somatosensory evoked potentials (SSEPs) with transcranial electrical motor evoked potentials (TCeMEPs) precise status of sensory and motor pathways was possible during surgical correction. Similarly, spontaneous electromyography (s-EMG) and triggered electromyography (t-EMG) were used to more accurately localize nerve irritation. Concerns during tibial and fibular osteotomies included ipsilateral lower limb motor and sensory function, especially peroneal nerve injuries due to the location of the osteotomy at the fibular neck. Surgical interventions consisting of additional fibular resection were made during the index procedures for four patients because of real-time monitoring changes noted as the peroneal nerve was entrapped in three patients at the osteotomy site. In fourth patient, the tourniquet pressure was the cause for loss of ipsilateral SSEPs and TCeMEPs. After appropriate surgical intervention, monitoring parameters began to normalize and postoperatively the patients presented with no neurologic deficit. In this study, the application of multimodality recording and stimulation models were utilized including posterior tibial nerve and peroneal nerve SSEP with lumbar potential (LP) identification to compare with contralateral limb recordings. In addition, by using spontaneous and triggered EMG and TCeMEP, we were able to perform monitoring with a high level of confidence throughout surgery. © ASET, Missouri.
Al-Thunyan A.,King Fahad National Guard Hospital
Obstetrics and gynecology | Year: 2012
Endovascular embolization has become part of the management of postpartum hemorrhage. We report a case of bilateral extensive gluteal skin and muscle necrosis with concurrent severe lumbosacral plexopathy after bilateral internal iliac artery embolization for postpartum hemorrhage. The ischemic plexopathy was treated conservatively, with a fair outcome. The complex gluteal wound was treated successfully with debridement and skin grafting. Pregnancy is known to increase the pelvic collateral blood vessels, and, hence, such a complication in a healthy pregnant woman is extremely rare. The risk of such a severe complication may be minimized by more selective embolization.
Hassan I.,King Fahad National Guard Hospital
Clinical Teacher | Year: 2012
Background: In the era of quality care, competency and outcome-based education, new models of teaching and resident staff training are greatly needed. These should be based on adult learning principles and allow for high-quality, patient-centred, evidence-based care. Context: Three areas that need restructuring with specific conceptual frameworks to allow for seamless competency-based training, and also to assist in putting the decision-making process in context, are: case or topic presentation; diagnostic labelling; and immediate interventions for front-line caregivers. Innovation: Three models are proposed: the competency-structured presentation (CSP) model; the bedside clinical diagnosis, etiological cause and severity score diagnostic labelling (BESD) model; and the symptomatic, supportive, specific, specialty and site of care (5S) model. Implications: The models listed above may assist in the following domains of patient care. In a competency-structured presentation, the CSP model formalises case presentations and discussions in a competency-based structure, thereby supporting the development of a competency-focused thought process for patient care. The BESD and 5S models improve the understanding of patient problems within the appropriate context, and thus assists in achieving the following quality outcomes. The BESD model promotes better diagnostic labelling, thereby assisting in implementing individualised, evidence-based interventions. The 5S model promotes the cognitive conceptualisation of medical management, which will aid a more comprehensive, patient-centred, multidisciplinary care input, thereby reducing process errors and improving outcomes. © Blackwell Publishing Ltd 2012.