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https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#1
REVIEW
Mouhab Ayas
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...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28643016/screening-for-lynch-syndrome-in-young-saudi-colorectal-cancer-patients-using-microsatellite-instability-testing-and-next-generation-sequencing
#2
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients...
June 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28642140/emergence-of-carbapenem-resistant-enterobacteriaceae-isolated-from-patients-in-a-university-hospital-in-saudi-arabia-epidemiology-clinical-profiles-and-outcomes
#3
Fawzia E Alotaibi, Elham E Bukhari, Maha M Al-Mohizea, Taghreed Hafiz, Eman Bin Essa, Yasmeen I AlTokhais
Carbapenemase-producing Enterobacteriaceae have been steadily spreading worldwide during the last decade. Nine patients were identified prospectively and were followed during their hospitalization course to identify the epidemiology, clinical profiles and outcomes. These patients had one or more cultures positive for a CRE isolate, contributing to a total of eleven positive cultures from various sites without including duplicates of isolates obtained from the same site. Isolates from these patients included five Klebseilla pneumoniae, three Escherichia coli, and one Enterobacter aerogenes...
June 19, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28640246/gwas-signals-revisited-using-human-knockouts
#4
Sateesh Maddirevula, Fatema AlZahrani, Shams Anazi, Mariam Almureikhi, Tawfeg Ben-Omran, Ghada M H Abdel-Salam, Mais Hashem, Niema Ibrahim, Firdous M Abdulwahab, Neama Meriki, Fahad A Bashiri, Meow-Keong Thong, Premala Muthukumarasamy, Rifhan Azwani Mazlan, Ranad Shaheen, Fowzan S Alkuraya
PurposeGenome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common challenge in GWAS is the interpretation of signals, which are usually attributed to the genes closest to the polymorphic markers that display the strongest statistical association. Naturally occurring complete loss of function (knockout) of these genes in humans can inform GWAS interpretation by unmasking their deficiency state in a clinical context.MethodsWe exploited the unique population structure of Saudi Arabia to identify novel knockout events in genes previously highlighted in GWAS using combined autozygome/exome analysis...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640103/occupational-injuries-among-pediatric-orthopedic-surgeons-how-serious-is-the-problem
#5
Abdulmonem M Alsiddiky, Raheef Alatassi, Saad M Altamimi, Mahdi M Alqarni, Saud M Alfayez
In this cross-sectional study, we surveyed all pediatric orthopedic surgeons in Saudi Arabia using an anonymous electronic questionnaire composed of 23 items to identify the rate of occupational injuries and obtain other relevant information. Thirty-nine participants completed the questionnaire (response rate: 83%). Participants who sustained occupational injuries throughout their careers represented 82.5%. The most injured areas were the hands, eyes, and back by 54.5%, 24.2%, and 15.2%, respectively. Approximately 11...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639934/first-description-of-methyltransferases-in-extensively-drug-resistant-klebsiella-pneumoniae-isolates-from-saudi-arabia
#6
Baha Abdalhamid, Nasreldin Elhadi, Samar Albunayan, Khaldoon Alsamman, Reem Aljindan
PURPOSE: The resistance determinants for carbapenems, fluoroquinolones and aminoglycosides were characterized in 16 extensively drug-resistant Klebsiella pneumoniae (XDRKPN) strains collected from Saudi hospitals during 2014. METHODOLOGY: PCR and sequencing were used to detect: blaKPC, blaNDM, blaVIM, blaIMP-1,blaOXA-48, blaCTX-M, blaTEM, blaSHV and ampC for β-lactam resistance; qnrA, qnrB, qnrS, aac(6')-Ib-cr, qepA and mutations of gyrA and parC for fluoroquinolone resistance; and aacA4, aacC2, aadA1, aphA6, armA and rmtB for aminoglycoside resistance...
June 22, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28638570/barriers-in-accessing-care-services-for-physically-disabled-in-a-hospital-setting-in-riyadh-saudi-arabia-cross-sectional-study
#7
Fatimah MohammedAli Alkawai, Abdullah Saad Alowayyed
Objective: The aim of this study was to identify the significant difficulties in access to health care services experienced by patients with physical disabilities. Method: A cross-sectional study at King Abdul Aziz Medical City, Riyadh, Saudi Arabia on 235 persons with physical disability, from 1 January to 30 June 2014. Results: A total of 88% of the people with disability reported having the need for someone to accompany them. Over 52% were unsatisfied with parking, 49.8% with the waiting area, 51.3% with wheel-chair services, and nearly 45% were unsatisfied with toilet facilities for the physically disabled...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637444/a-comparison-of-nutritional-intake-and-daily-physical-activity-of-girls-aged-8-11%C3%A2-years-old-in-makkah-saudi-arabia-according-to-weight-status
#8
Rabab Al-Kutbe, Anne Payne, Anne de Looy, Gail A Rees
BACKGROUND: Obesity rates in Saudi Arabia are amongst the highest in the world. It is known that teenage girls are less active than teenage boys, but less is known about the diet and activity patterns in younger girls. Therefore this study sought to investigate dietary intake and daily physical activity in girls aged 8-11 years old in Saudi Arabia. METHODS: This was a cross- sectional observational study conducted in seven schools across the city of Makkah. A total of 266 girls had anthropometric measurements taken including height, weight, waist circumference and body fat estimations...
June 21, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28635552/temporal-variation-of-fine-and-coarse-particulate-matter-sources-in-jeddah-saudi-arabia
#9
Chris C Lim, George D Thurston, Magdy Shamy, Mansour Alghamdi, Mamdouh Khoder, Abdullah M Mohorjy, Abdulrahman K Alkhalaf, Jason Brocato, Lung Chi Chen, Max Costa
This study provides the first comprehensive analysis of the seasonal variations and weekday/weekend differences in fine (PM2.5) and coarse (PM2.5-10) particulate matter mass concentrations, elemental constituents, and potential source origins in Jeddah, Saudi Arabia. Air quality samples were collected over one year, from June 2011 to May 2012 at a frequency of three times per week, and analyzed. The average mass concentrations of PM2.5 (21.9 μg/m(3)) and PM10 (107.8 μg/m(3)) during the sampling period exceeded the recommended annual average levels by the World Health Organization (WHO) for PM2...
June 21, 2017: Journal of the Air & Waste Management Association
https://www.readbyqxmd.com/read/28635425/multimodal-imaging-in-cabp4-related-retinopathy
#10
Patrik Schatz, Maram E A Abdalla Elsayed, Arif O Khan
PURPOSE: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. METHODS: Retrospective case series. RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined...
March 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635358/disability-and-the-impact-of-need-for-periodontal-care-on-quality-of-life-a-cross-sectional-study
#11
Maha El Tantawi, Adel AlAgl
Objective The need for periodontal care may negatively impact daily life. We compared the need for periodontal care and its impact on daily life between disabled and healthy adults in the Eastern Province, Saudi Arabia. Methods In this cross-sectional study of 819 adults, a questionnaire was used to assess personal background factors; the impact of periodontitis on pain, avoiding foods, embarrassment, sleeplessness, work absence, and discontinuing daily activities; and risk factors (smoking, diabetes, toothbrushing, insurance, professional tooth cleaning, and dental visits)...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28634586/the-referral-system-between-primary-and-secondary-health-care-in-saudi-arabia-for-patients-with-type-2-diabetes-a-systematic-review
#12
REVIEW
Mohammed Senitan, Ali Hassan Alhaiti, James Gillespie, Badar Faiz Alotaibi, George Binh Lenon
BACKGROUND: In Saudi Arabia, the mortality of diabetes is currently reported at 6%. A well-administered referral system is crucial in aiding the management of this disease. METHOD: A single reviewer employed a systematic approach to searching the literature databases with regard to the question: what are the attributes of referral systems in Saudi Arabia for patients with type 2 diabetes (T2D)? The results were analysed in order to provide recommendations to improve the Saudi health system...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28634355/longitudinal-study-of-middle-east-respiratory-syndrome-coronavirus-infection-in-dromedary-camel-herds-in-saudi-arabia-2014-2015
#13
Maged Gomaa Hemida, Abdulmohsen Alnaeem, Daniel Kw Chu, Ranawaka Apm Perera, Samuel Ms Chan, Faisal Almathen, Emily Yau, Brian Cy Ng, Richard J Webby, Leo Lm Poon, Malik Peiris
Two herds of dromedary camels were longitudinally sampled with nasal and rectal swabs and serum, between September 2014 and May 2015, and the samples were tested for Middle East Respiratory Syndrome (MERS) coronavirus RNA and antibodies. Evidence of MERS-CoV infection was confirmed in one herd on the basis of detection of virus RNA in nasal swabs from three camels and significant increases in the antibody titers from three others. The three viruses were genetically identical, thus indicating introduction of a single virus into this herd...
June 21, 2017: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/28632794/migrants-healthy-worker-effect-and-mortality-trends-in-the-gulf-cooperation-council-countries
#14
Karima Chaabna, Sohaila Cheema, Ravinder Mamtani
The Gulf Cooperation Council (GCC) countries namely, Bahrain, Kuwait, Oman, Qatar, United Arab Emirates (UAE), and Saudi Arabia, have experienced unique demographic changes. The major population growth contributor in these countries is young migrants, which has led to a shift in the population age pyramid. Migrants constitute the vast proportion of GCC countries' population reaching >80% in Qatar and UAE. Using Global Burden of Disease Study 2015 (GBD 2015) and United Nations data, for the GCC countries, we assessed the association between age-standardized mortality and population size trends with linear and polynomial regressions...
2017: PloS One
https://www.readbyqxmd.com/read/28630779/impact-of-obesity-on-serum-levels-of-thyroid-hormones-among-euthyroid-saudi-adults
#15
Hassan M Al-Musa
AIM OF STUDY: To assess serum thyroid hormones levels among Saudi adults and to correlate participants' serum levels with their grades of body mass index (BMI). METHODOLOGY: A total of 278 adult subjects were recruited. Participants were categorized according to their BMI grades into normal weight (BMI < 25 kg/m(2)), overweight (BMI 25-29.9 kg/m(2)), or obese (BMI ≥ 30 kg/m(2)). Serum thyroid hormones levels were assessed at the central laboratory of Aseer Central Hospital, Abha City, by chemiluminescence immunoassay...
2017: Journal of Thyroid Research
https://www.readbyqxmd.com/read/28630767/the-learning-preferences-among-nursing-students-in-the-king-saud-university-in-saudi-arabia-a-cross-sectional-survey
#16
Homood A Alharbi, Adel F Almutairi, Eyad M Alhelih, Abdualrahman S Alshehry
OBJECTIVE: The present study aimed to identify the most common learning preferences among the nursing students in Saudi Arabia and to investigate the associations of certain demographic variables with the learning preferences. METHODS: All the undergraduate nursing students in the nursing college were requested to participate in this descriptive cross-sectional study. An Arabic version of the Felder-Silverman learning style model (FSLSM) questionnaire was used to examine the learning preferences among undergraduate nursing students...
2017: Nursing Research and Practice
https://www.readbyqxmd.com/read/28630226/thyrotoxic-periodic-paralysis-as-an-initial-presentation-of-graves-disease-in-a-saudi-patient
#17
S F Alqahtani, M M Aleithan
Thyrotoxic periodic paralysis (TPP) is a well-known complication of hyperthyroidism, characterised by recurrent flaccid paralysis with hypokalaemia. To date, only five cases of this rare disorder have been reported in Saudi Arabia. Here, we report an additional case involving a 25-year-old Saudi man who presented with lower limb paralysis and severe hypokalaemia. Clinically, he showed symptoms and signs suggestive of Graves' disease, which was confirmed by laboratory investigations. Carbimazole, a beta-blocker and potassium replacement were administered, resulting in dramatic improvement of the TTP...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28629200/level-of-sedentary-behavior-and-its-associated-factors-among-saudi-women-working-in-office-based-jobs-in-saudi-arabia
#18
Nada M Albawardi, Hoda Jradi, Abdulla A Almalki, Hazzaa M Al-Hazzaa
Research in Saudi Arabia has revealed a shocking level of insufficiently physically active adults, particularly women. The risk of sedentary behavior will likely increase as the number of women with office-based jobs increases. The aim of this study is to determine the level of sedentary behavior, and its associated factors, among Saudi women working office-based jobs in the city of Riyadh. A cross-sectional study of 420 Saudi female employees at 8 office-based worksites were measured to determine body mass index and were given a self-administered survey to evaluate their level of physical activity and sedentary behavior...
June 19, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28628348/relation-between-peak-knee-flexion-angle-and-knee-ankle-kinetics-in-single-leg-jump-landing-from-running-a-pilot-study-on-male-handball-players-to-prevent-acl-injury
#19
Mariam A Ameer, Qassim I Muaidi
OBJECTIVES: The relationship between knee kinematics and knee-ankle kinetics during the landing phase of single leg jumping has been widely studied to identify proper strategies for preventing non-contact ACL injury. However, there is a lack of study on knee-ankle kinetics at peak knee flexion angle during jumping from running. Hence, the purpose of this study is to establish the relationship between peak knee flexion angle, knee extension moment, ankle plantar flexion moment and ground reaction force in handball players in order to protect ACL from excessive stress during single leg jumping...
June 19, 2017: Physician and Sportsmedicine
https://www.readbyqxmd.com/read/28625842/dynamics-of-scientific-publications-on-the-mers-cov-outbreaks-in-saudi-arabia
#20
REVIEW
Ali Rabaan, Shamsah H Al-Ahmed, Ali M Bazzi, Jaffar A Al-Tawfiq
Middle East Respiratory Syndrome Coronavirus (MERS-CoV) is an emerging disease with a relatively high case fatality rate. Most cases have been reported from Saudi Arabia, and the disease epidemic potential is considered to be limited. However, human-human transmission has occurred, usually in the context of healthcare facility-associated outbreaks. The scientific and medical community depends on timely publication of epidemiological information on emerging diseases during outbreaks to appropriately target public health responses...
June 15, 2017: Journal of Infection and Public Health
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