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Concept: King Faisal Specialist Hospital

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Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes. Our main objective was to evaluate a neurological gene panel as a first-line diagnostic test for LGMD/myopathies.

Concepts: Biology, Neurology, Riyadh, Muscular system, Muscular dystrophy, Iraq, Jeddah, King Faisal Specialist Hospital

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Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others. Of all the congenital bone marrow failure syndromes, two of them-Fanconi anemia and dyskeratosis congenita-represent a real challenge in terms of conditioning for HCT and require special attention. This minireview is a snapshot of the recent international and local experience of HCT in these two entities.

Concepts: Chromosome, Bone marrow, Saudi Arabia, Riyadh, Hematopoietic stem cell transplantation, Aplastic anemia, Jeddah, King Faisal Specialist Hospital

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Treatment of patients with chronic myeloid leukaemia (CML) has become increasingly difficult in recent years due to the variety of treatment options available and challenge deciding on the most appropriate treatment strategy for an individual patient. To facilitate the treatment strategy decision, disease assessment should involve molecular response to initial treatment for an individual patient. Patients predicted not to achieve major molecular response (MMR) at 24 months to frontline imatinib may be better treated with alternative frontline therapies, such as nilotinib or dasatinib. The aims of this study were to i) understand the clinical prediction ‘rules’ for predicting MMR at 24 months for CML patients treated with imatinib using clinical, molecular, and cell count observations (predictive factors collected at diagnosis and categorised based on available knowledge) and ii) develop a predictive model for CML treatment management. This predictive model was developed, based on CML patients undergoing imatinib therapy enrolled in the TIDEL II clinical trial with an experimentally identified achieving MMR group and non-achieving MMR group, by addressing the challenge as a machine learning problem. The recommended model was validated externally using an independent data set from King Faisal Specialist Hospital and Research Centre, Saudi Arabia.

Concepts: Scientific method, Prediction, Futurology, Future, Prophecy, Riyadh, Chronic myelogenous leukemia, King Faisal Specialist Hospital

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Among the most common and chronic problems in the healthcare system worldwide is the crowding of emergency rooms (ER); leading to many serious complications. King Faisal Specialist Hospital and Research Center utilized health analytics methods to identify areas of deficiency and suggest potential improvements to ER performance. The project implemented solutions and monitored two indicators; ER length of stay (LOS), reflecting efficiency, and percentage of patients leaving without treatment, reflecting effectiveness of the ER. A retrospective analysis of 26,948 ER encounters in 2014 was done in January 2015. Analytics techniques were used to suggest process redesign based on results. Two recommendations were implemented; a Fast-Track for lower acuity ER patients and an internal waiting area, for those patients who can stay vertical and spare an ER bed. 32.8% of ER patients had lower acuity levels and less than 0.5% of them were admitted to the hospital. After implementing the two solutions, the total ER LOS was reduced from 20h in 2014 to less than 12h in 2016; 40% improvement. The percentages of patients left without being seen stayed around 3.5%, while the percentages of patients left before complete treatment was significantly reduced from 13.5% in 2014 to 5.5% in 2016. Consequently, the total percentage of patients left without treatment was reduced from 17% in 2014 to 9% in 2016, with 50% improvement. All other factors were the same, including numbers of ER visits, Patient Acuity Level, working staff, working hours, and the count of ER beds. Health analytics methods can be used to identify areas of deficiency, potential improvements, and recommend effective solutions to positively enhance ER performance. More solutions should be examined such as team triaging, patients palmar scanning, and placing a physician in triage. Additionally, more indicators should be monitored, such as the effectiveness of ER treatment-including the rates of revisits.

Concepts: Better, Medicine, Health insurance, Improve, Patient, Hospital, Concentration, King Faisal Specialist Hospital

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Intracranial aspergillosis is an extremely rare manifestation of invasive aspergillosis in immunocompetent children and is associated with high morbidity and mortality. We report a 12-year-old immunocompetent male child who was referred to the King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, in May 2010 after a sudden-onset headache and loss of consciousness. Brain imaging revealed a large right space-occupying occipital lesion and the patient underwent a craniotomy and resection. Histopathology of the lesion revealed necrotising granulomatous fungal encephalitis with many hyphae engulfed by multinucleated giant histiocytes. Two days later, a computed tomography scan showed debulking of the fungal mass and the patient was discharged on oral voriconazole. However, imaging at a six-week follow-up showed progression of the abnormality. A residual or persistent fungal brain lesion was suspected. Further neurosurgical resection of the lesion was performed and cultures showed growth of Aspergillus flavus. The patient was treated successfully with antifungal therapy over the following two years.

Concepts: Medical imaging, Aspergillus flavus, Saudi Arabia, Arabian Peninsula, Riyadh, Aspergillosis, Jeddah, King Faisal Specialist Hospital

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A 5-y retrospective analysis of the cardiology staff eye doses was performed on 34 staff from different categories (cardiologists, nurses and technologists) at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh, Saudi Arabia. KFSHRC is a tertiary medical centre with 800-bed capacity having more than 5000 cardiac catheterisation procedures performed annually. The aim of the study is to derive staff doses to the lens of the eyes using the personal dose equivalent Hp(0.07) values from the annual TLD dose report for the years 2008-2012 and determine the category of staff with high estimated eye doses. The study also aims to investigate the causes for high doses and recommend dose-reduction techniques. The dose to the lens of the eye was estimated by using the ratio Hp(0.07)slab/Hlens of 1.1 where Hp(0.07) values are the reported doses read from TLD badge worn at the collar level. The average annual eye dose of each category for the 5-y monitoring period was determined. Cardiologists tend to receive higher doses than the nurses by a factor of 2-4 and can exceed 5 mSv y(-1). No correlation exists between the eye doses of nurses and the cardiologists. There is a need to use a conversion coefficient in terms of eye lens dose per dose-area product for faster estimation of eye lens doses. However, there is a limitation on the use of the conversion coefficient because it will depend on the clinical procedure and the X-ray tube angulation. Further investigation on this limitation is needed.

Concepts: Saudi Arabia, Riyadh, Eye, Cornea, Lens, Crystallin, Jeddah, King Faisal Specialist Hospital

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Plasma cell leukemia (PCL) is a rare hematologic malignancy with very poor outcome. It is defined by the presence of >2×10(9)/L plasma cells or >20% plasmacytosis of the differential white cell count in the peripheral blood. Primary PCL is first diagnosed in the leukemic phase, while secondary PCL corresponds to the leukemic transformation of a previously diagnosed multiple myeloma (MM). The incidence of PCL ranges between 2-4% of patients with MM and 0.9% of patients with acute leukemia. In this case series, we describe the clinicopathologic, immunophenotypic, and cytogenetic findings of four patients diagnosed with PCL within a ten-year period (2002-2012) at King Faisal Specialist Hospital and Research Centre (General Organization), Riyadh, Saudi Arabia.

Concepts: Multiple myeloma, Blood, Hematology, Saudi Arabia, Riyadh, Leukemia, Jeddah, King Faisal Specialist Hospital

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HIGMI is a disease with a high risk for morbidity and mortality. HSCT has been shown to be a curative option. This study retrospectively reviewed and analyzed data from five patients who received HSCT at King Faisal Specialist Hospital & Research Centre (KFSH&RC) in Riyadh, Saudi Arabia, between 2005 and 2013. Five patients with HIGMI syndrome underwent HSCT at a median age of 41 months (range, 9-72 months). The median time from diagnosis to transplantation was 30 months (range, 5-58 months). For all five patients, the donors were HLA-identical siblings. In three patients, the conditioning regimen was composed of BU and CY. Fludarabine and melphalan with either ATG or alemtuzumab was used in two patients. For GVHD prophylaxis, cyclosporine was used in two patients, and the combination of cyclosporine and MTX was used in three patients. The survival rate was 100%, with a median follow-up of 69 months (range, 13-100 months). All patients engrafted. Two patients developed acute GVHD. Four patients showed complete immune recovery with positive CD40L expression in activated T cells and discontinued IVIG replacement. HSCT in early stage from an HLA-matched sibling donor is potentially effective at curing the disease.

Concepts: Graft-versus-host disease, Saudi Arabia, Riyadh, Organ transplant, Hematopoietic stem cell transplantation, Hematopoietic stem cell, Jeddah, King Faisal Specialist Hospital

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We read with great interest the article entitled “The effects of fasting in Muslim patients taking warfarin” by Lai Y et. al ((1).) They mentioned that the effect of fasting on warfarin therapy is unknown and the current published literatures, linked to this subject are limited to animal models.Saour et.al ((2)) reported the first study (though not in Medline) addressing the effects of fasting on anticoagulation therapy. Over 5 years period they studied 289 patients who were seen in anticoagulation clinic at King Faisal Specialist Hospital, Riyadh,Saudi-Arabia. This article is protected by copyright. All rights reserved.

Concepts: Hospital, Effect, Warfarin, English-language films, All rights reserved, Copyright, King Faisal Specialist Hospital

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In 2005 the first Saudi genetic counseling training program was established by the Department of Medical Genetics at King Faisal Specialist Hospital and Research Center (KFSH&RC) in the Kingdom of Saudi Arabia. The program has graduated five genetic counselors with high diploma-level degree. This brief report describes the development of the genetic counseling training program and the factors that led to its establishment. Special emphasis is made to unique cultural practices including consanguinity, religious influence, and termination of pregnancy. This report also describes the current status of the genetic counseling services offered by KFSH&RC and availability of genetic testing.

Concepts: Genetics, Saudi Arabia, Riyadh, Medical genetics, Iraq, Jeddah, King Faisal Specialist Hospital, House of Saud