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1.
Oman Medical Journal. 2018; 33 (4): 291-298
em Inglês | IMEMR | ID: emr-199077

RESUMO

Objectives: In 2015, the Joint United Nations Program on HIV/AIDS [UNAIDS] set a target that 90% of all people living with HIV will know their HIV status, 90% of those diagnosed will receive antiretroviral therapy, and 90% of those receiving antiretroviral therapy will have viral suppression by 2020. We sought to elucidate the epidemiological and clinical characteristics of HIV infected patients at the Infectious Diseases Clinic at Royal Hospital, Oman, with a focus on the UNAIDS 90-90-90 achieved rates


Methods: We conducted a retrospective analysis of the medical records of 326 HIV infected patients from 1989 to 2016. Data collected included demographics, Word Health Organization [WHO] staging, laboratory analyses, and treatment outcomes


Results: The overall mean age of the cohort was 36.0 +/- 15.0 years, and 60.4% [n = 197] were males. The majority of patients acquired HIV through heterosexual transmission [58.9%; n = 192]. At the time of the first clinic visit, 26.1% [n = 85] of patients had WHO stage 4 HIV infection. The rates of HIV/HBV and HIV/HCV coinfections were 2.7% and 5.8%, respectively. The baseline CD4+ cells count was <200 cells/mm[3] in 38.0% [n = 124] of patients, 201-500 cells/mm[3] in 30.1% [n = 99] of patients, and > 500 cells/mm[3] in 27.0% [n = 88] of patients. The baseline HIV RNA titer was greater than 1000 copies/mL[3] in 74.5% [n = 243] of the cohort. A total of 96.3% [n = 314] of patients received antiretroviral therapy, most commonly non-nucleoside reverse transcriptase inhibitor-based regimens. HIV genotype resistance testing was performed in 165 patients [50.6%] either at baseline in treatment naïve patients or following treatment failure.Among the 326 patients included, 22 patients [6.7%] died, and 29 patients [8.9%] were lost to follow-up


Conclusions: Regarding the UNAIDs 90-90-90 target, over a quarter of the patients presented late with WHO stage 4 HIV disease, 96.3% of cohort patients received antiretroviral treatment, and 71.5% achieved virological suppression

2.
Oman Medical Journal. 2018; 33 (4): 271-272
em Inglês | IMEMR | ID: emr-199139
3.
SQUMJ-Sultan Qaboos University Medical Journal. 2018; 18 (2): 137-142
em Inglês | IMEMR | ID: emr-199874

RESUMO

Objectives: This study aimed to determine the effect of newly established asthma clinics [ACs] on asthma management at primary healthcare centres [PHCs] in Oman


Methods: This retrospective crosssectional study was conducted between June 2011 and May 2012 in seven PHCs in the Seeb wilayat of Muscat, Oman. All >/=6-year-old asthmatic patients visiting these PHCs during the study period were included. Electronic medical records were reviewed to determine which clinical assessment and management components had been documented


Results: A total of 452 asthmatic patients were included in the study. The mean age was 35 +/- 21 years old [range: 6.95 years] and the majority [57%] were female. In total, 288 [64%] cases were managed at ACs and 164 [36%] were managed at general clinics [GCs]. Significant differences were noted in the documentation of cases managed at ACs compared to those at GCs, including history-taking information regarding signs and symptoms [91% versus 19%; P <0.001], trigger factors [79% versus 16%; P <0.001] and a history of atopy [81% versus 17%; P <0.001], smoking [61% versus 7%; P <0.001], asthma exacerbations [73% versus 10%; P <0.001] or previous admissions [63% versus 10%; P <0.001]. Furthermore, prescription rates of inhaled corticosteroids [72% versus 61%; P = 0.021] and short-acting Beta-agonists [93% versus 82%; P = 0.001] were significantly higher at ACs compared to GCs


Conclusion: Overall, the findings indicated that ACs have had a positive impact on asthma management at the studied PHCs

4.
Oman Medical Journal. 2018; 33 (5): 365-366
em Inglês | IMEMR | ID: emr-201936
5.
Oman Medical Journal. 2018; 33 (1): 15-21
em Inglês | IMEMR | ID: emr-192855

RESUMO

Objectives: Systemic lupus erythematous [SLE] is a chronic autoimmune disease that affects women primarily of childbearing age. The objective of this study was to determine the neonatal and maternal outcomes of pregnancies in SLE patients compared to pregnancies in healthy controls


Methods: We conducted a retrospective cohort study in a tertiary care hospital in Oman between January 2007 and December 2013. We analyzed 147 pregnancies and compared 56 [38.0%] pregnancies in women with SLE with 91 [61.9%] pregnancies in healthy control women. Disease activity was determined using the Systemic Lupus Erythematosus Disease Activity Index [SLEDAI]


Results: The mean age of the cohort was 30.0+/-5.0 years ranging from 19 to 44 years old. Patients with SLE were treated with hydroxychloroquine [n = 41; 73.2%], prednisolone [n = 38; 67.8%], and azathioprine [n = 17; 30.3%]. There was no disease activity in 39.2% [n = 22] of patients while 41.0% [n = 23], 12.5% [n = 7], and 7.1% [n = 4] had mild [SLEDAI 1-5], moderate [SLEDAI 6-10], and severe [SLEDAI >/= 11] disease activity, respectively, at onset of pregnancy. Pregnancies in patients with SLE were associated with higher abortions [42.8% vs. 15.3%; p < 0.001], gestational diabetes [28.3% vs. 10.2%; p = 0.004], polyhydramnios [7.1% vs. 0.0%; p = 0.020], previous preterm pregnancies [8.9% vs. 1.0%; p = 0.030], and intrauterine growth retardation [21.4% vs. 0.0%; p < 0.001] when compared to pregnancies in healthy control women. Furthermore, the neonates born to mothers with SLE were more likely to be preterm [28.5% vs. 1.0%; p < 0.001], have a low birth weight [< 2 500 g] [32.1% vs. 1.0%; p < 0.001], and were associated with stillbirth [7.1% vs. 0.0%; p = 0.010] when compared to neonates born to healthy control mothers


Conclusions: Pregnancies in women with SLE were associated with higher neonatal and maternal complications. Therefore, pregnant women with SLE should have their pregnancy accurately planned, monitored, and managed according to a multidisciplinary treatment schedule

6.
Oman Medical Journal. 2017; 32 (6): 461-466
em Inglês | IMEMR | ID: emr-190447

RESUMO

Objectives: To determine the characteristics of patients presenting with chronic pain in a primary health care setting in Oman


Methods: A retrospective cross-sectional study was carried out including all patients aged >/= 18 years who attended Sultan Qaboos University Health Center during 2010. Patients were identified to have chronic pain if they were prescribed an analgesic medication for at least three months. Patients were compared to a control group which consisted of age- and gender-matched patients with no chronic pain


Results: Out of 6 609 patients, 241 [3.6%] were found to have chronic pain. The mean age of patients with chronic pain was 54.0 +/- 13.0 years. The majority of patients were female [n = 174; 72.1%], and most were Omani [n = 201; 83.4%]. The prevalence of chronic pain was found to be significantly higher among females compared to males [4.5% vs. 2.5%; p < 0.001] and also among Omani nationals to non-nationals [83.4% vs. 70.1%; p < 0.001]. Chronic pain was significantly associated with the following comorbidities; diabetes [33.1% vs. 20.7%; p < 0.001], obesity [35.2% vs. 26.5%; p = 0.001], and hypertension [51.0% vs. 38.5%; p = 0.002]. Osteoarthritis was the most common pain condition [n = 104; 43.1%]. Diclofenac was the most commonly prescribed drug [n = 168; 69.7%]


Conclusions: The findings of our study point towards a higher prevalence of chronic pain in Omani females. These patients were also found to have a higher prevalence of other common comorbid conditions

7.
Oman Medical Journal. 2016; 31 (1): 5-11
em Inglês | IMEMR | ID: emr-177473

RESUMO

There is a spurt of interest in research productivity in the Gulf Cooperation Council [GCC] to lay the foundation for national development. From a global perspective, increased research productivity could conceivably be accompanied by an exponential increase in research misconduct [RM]. Inevitably, erroneous or falsified data will be expected to adversely affect public health by misleading policy makers and clinicians alike into embarking on health policy and allocation of resources that are byproducts of RM. This will contribute significantly to the emerging crisis of confidence of the public in the integrity of scientific research. For a long time, RM has been considered only as plagiarism or data fabrication and falsification. However, the concept of RM nowadays encompasses more and, in this review, we discuss its possible implications in emerging economies, such as those of the GCC countries. We suggest that GCC countries ought to consider implementing remedial and punitive policies to deal with RM

8.
Oman Medical Journal. 2016; 31 (1): 35-39
em Inglês | IMEMR | ID: emr-177479

RESUMO

Objectives: Antimicrobial stewardship programs have been designed to measure and improve the use of antimicrobials to achieve optimal clinical outcomes and reduce bacterial resistance. The aim of this study was to review patterns of antimicrobial prescribing for hospitalized patients in the acute care setting and assess the appropriateness of antimicrobial use among prescribers in a tertiary care hospital in Oman


Methods: We conducted a retrospective audit of the appropriateness of antimicrobial prescribing in patients admitted to acute care settings in a tertiary care hospital in Oman over a four week period [1 November to 28 November 2012]. The data of all discharged patients were retrieved from the department databases. Patient records and prescriptions were reviewed by an infectious disease consultant. The rationality of antimicrobial use was evaluated, analyzed, and judged based on local standard guidelines and the experience of the evaluating consultant


Results: There were 178 patients discharged from acute medical teams over the study period. Sixty-four percent of the patients received a total of 287 antimicrobial agents during admission. The average number of antimicrobials prescribed per patient in those prescribed antimicrobials was 2.5 +/- 1.1. The most commonly prescribed antimicrobial agent was piperacillin/tazobactam. Most patients had infections from gram-negative organisms, and high rates of extended spectrum beta-lactamase producing organisms were observed. Cultures were obtained before antimicrobial initiation in 25% of patients. Variability in antimicrobial selection for common infections was observed


Conclusions:National guidelines for the management of common infections are needed to minimize the overuse and misuse of antimicrobial agents in tertiary care hospitals. A large surveillance study on antimicrobial prescribing appropriateness in different hospital settings is warranted

9.
SQUMJ-Sultan Qaboos University Medical Journal. 2015; 15 (2): 218-224
em Inglês | IMEMR | ID: emr-171464

RESUMO

Parenteral nutrition-associated cholestasis [PNAC] is one of the most challenging complications of prolonged parenteral nutrition [PN] in neonates. There is a lack of research investigating its incidence in newborn infants in Oman and the Arab region. Therefore, this study aimed to assess the incidence of PNAC and its risk factors in Omani neonates. This retrospective study took place between January and April 2014. All neonates who received PN for >/=14 days during a four-year period [June 2009 to May 2013] at the neonatal intensive care unit [NICU] in Sultan Qaboos University Hospital, Muscat, Oman, were enrolled. A total of 1,857 neonates were admitted to the NICU over the study period and 135 neonates [7.3%] received PN for >/=14 days. Determining the incidence of PNAC was only possible in 97 neonates; of these, 38 [39%] had PNAC. The main risk factors associated with PNAC were duration of PN, duration of enteral starvation, gastrointestinal surgeries, blood transfusions and sepsis. Neonates with PNAC had a slightly higher incidence of necrotising enterocolitis in comparison to those without PNAC. This study found a PNAC incidence of 39% in Omani neonates. There were several significant risk factors for PNAC in Omani neonates; however, after logistic regression analysis, only total PN duration remained statistically significant. Preventive strategies should be implemented in NICUs so as to avoid future chronic liver disease in this population


Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Colestase/etiologia , Colestase/diagnóstico , Nutrição Parenteral , Fatores de Risco
10.
SQUMJ-Sultan Qaboos University Medical Journal. 2015; 15 (1): 46-51
em Inglês | IMEMR | ID: emr-160012

RESUMO

Regular blood transfusions are essential for patients with thalassaemia major. However, infections with hepatotropic viruses remain a major concern. The objective of this study was to evaluate the prevalence and characteristics of hepatitis C viral [HCV] infection among patients with homozygous beta thalassaemia in a single centre in Oman. A retrospective chart review of 200 patients treated at the Thalassemia Unit of Sultan Qaboos University Hospital [SQUH] in Muscat, Oman, between August 1991 and December 2011 was performed. Relevant demographic and clinical characteristics were collected, including age, gender, HCV status and the presence of endocrinopathies. A total of 81 patients [41%] were found to be anti-HCV-antibody [anti-HCV]-positive. HCV ribonucleic acid tests were performed on 65 anti-HCV-positive patients and were positive among 33 [51%]; the remaining 16 patients died before these tests were available. Anti-HCV-positive patients were significantly older than anti-HCV-negative patients [P <0.001] and were more likely to be diabetic than anti-HCV-negative patients [27% versus 8%; P <0.001]. A total of 100 patients had been transfused before they were transferred to SQUH in 1991; of these, 70 [70%] were anti-HCV-positive. Only 11 [11.5%] of the 96 patients who were seronegative in 1991, or who were transfused later, became seropositive. It is likely that the high prevalence of HCV among multi-transfused thalassaemic patients in Oman is due to blood transfusions dating from before the implementation of HCV screening in 1991 as the risk of HCV-associated transfusions has significantly reduced since then. Additionally, results showed that anti-HCV-positive patients were more likely to be diabetic than anti-HCV-negative patients


Assuntos
Humanos , Feminino , Masculino , Talassemia beta , Transfusão de Sangue , Prevalência , Estudos Retrospectivos , Anticorpos Anti-Hepatite C
11.
SQUMJ-Sultan Qaboos University Medical Journal. 2014; 14 (4): 466-470
em Inglês | IMEMR | ID: emr-151129

RESUMO

This study aimed to evaluate antibiotic prescribing patterns for paediatric patients at Sultan Qaboos University Hospital [SQUH], a tertiary care hospital in Muscat, Oman. This retrospective cross-sectional study included all 1,186 prescriptions issued for 499 patients at the paediatric outpatient clinic and paediatric inpatient ward at SQUH between March and May 2012. Of the 499 patients, 138 [27.6%] were prescribed a total of 28 different antibiotics. A total of 185 [15.6%] antibiotic prescriptions were issued among the total drug prescriptions. Preschool children aged 0-6 years were prescribed antibiotics most frequently [n = 110]. Co-amoxiclav was the most commonly prescribed antibiotic in both inpatients and outpatients [27.0% and 33.9%, respectively], followed by cefuroxime in inpatients [13.5%] and azithromycin in outpatients [18.6%]. Co-amoxiclav was the most commonly prescribed antibiotic in both 0-6 [31.3%] and 7-11 [23.3%] year-olds, while cefuroxime was most commonly prescribed in children >/=12 years old [25.0%]. Antibiotic prescription patterns in this population were similar to those in North America, Europe and Asia. To confirm the findings of this study, further research on antibiotic prescription trends across the wider paediatric population of Oman should be initiated

12.
Oman Medical Journal. 2014; 29 (2): 85-91
em Inglês | IMEMR | ID: emr-133277

RESUMO

Subjects with Familial hypercholesterolemia are at increased risk for cardiac events such as premature myocardial infarction and early death from coronary heart disease, especially in patients with severe forms of the disease if left unattended. Therefore, there is an ardent need for the early diagnosis followed by aggressive therapeutic intervention and lifestyle modification. Three groups have developed clinical diagnostic tools for Familial hypercholesterolemia: the US MedPed Program, the Simon Broome Register Group in the United Kingdom, and the Dutch Lipid Clinic Network. In this article, the individual criteria are reviewed with particular emphasis on their advantage[s] and disadvantage[s], and in turn assess their suitability in diagnosing Familial hypercholesterolemia in the Omani Arab population. A brief insight into the process of "Cascade Screening" is also provided, this is a procedure that we are in the process of establishing in Oman.

13.
Heart Views. 2014; 15 (1): 6-12
em Inglês | IMEMR | ID: emr-147231

RESUMO

There is paucity of data on heart failure [HF] in the Gulf Middle East. The present paper describes the rationale, design, methodology and hospital characteristics of the first Gulf acute heart failure registry [Gulf CARE]. Gulf CARE is a prospective, multicenter, multinational registry of patients >18 year of age admitted with diagnosis of acute HF [AHF]. The data collected included demographics, clinical characteristics, etiology, precipitating factors, management and outcomes of patients admitted with AHF. In addition, data about hospital readmission rates, procedures and mortality at 3 months and 1-year follow-up were recorded. Hospital characteristics and care provider details were collected. Data were entered in a dedicated website using an electronic case record form. A total of 5005 consecutive patients were enrolled from February 14, 2012 to November 13, 2012. Forty-seven hospitals in 7 Gulf States [Oman, Saudi Arabia, Yemen, Kuwait, United Gulf Emirates, Qatar and Bahrain] participated in the project. The majority of hospitals were community hospitals [46%; 22/47] followed by non-University teaching [32%; 15/47 and University hospitals [17%]. Most of the hospitals had intensive or coronary care unit facilities [93%; 44/47] with 59% [28/47] having catheterization laboratory facilities. However, only 29% [14/47] had a dedicated HF clinic facility. Most patients [71%] were cared for by a cardiologist. Gulf CARE is the first prospective registry of AHF in the Middle East, intending to provide a unique insight into the demographics, etiology, management and outcomes of AHF in the Middle East. HF management in the Middle East is predominantly provided by cardiologists. The data obtained from this registry will help the local clinicians to identify the deficiencies in HF management as well as provide a platform to implement evidence based preventive and treatment strategies to reduce the burden of HF in this region

14.
Oman Medical Journal. 2014; 29 (4): 264-270
em Inglês | IMEMR | ID: emr-159731

RESUMO

To illustrate the patient safety culture in Oman as gleaned via 12 indices of patient safety culture derived from the Hospital Survey on Patient Safety Culture [HSPSC] and to compare the average positive response rates in patient safety culture between Oman and the USA, Taiwan, and Lebanon. This was a cross-sectional research study employed to gauge the performance of HSPSC safety indices among health workers representing five secondary and tertiary care hospitals in the northern region of Oman. The participants [n=398] represented different professional designations of hospital staff. Analyses were performed using univariate statistics. The overall average positive response rate for the 12 patient safety culture dimensions of the HSPSC survey in Oman was 58%. The indices from HSPSC that were endorsed the highest included 'organizational learning and continuous improvement' while conversely, 'non-punitive response to errors' was ranked the least. There were no significant differences in average positive response rates between Oman and the United States [58% vs. 61%; p=0.666], Taiwan [58% vs. 64%; p=0.386], and Lebanon [58% vs. 61%; p=0.666]. This study provides the first empirical study on patient safety culture in Oman which is similar to those rates reported elsewhere. It highlights the specific strengths and weaknesses which may stem from the specific milieu prevailing in Oman

15.
Oman Medical Journal. 2013; 28 (5): 365-370
em Inglês | IMEMR | ID: emr-133272

RESUMO

Few studies have examined clinical and demographic profile of attendees of a walk-in psychiatric clinic in countries ravaged by wars. The aim of this study is to quantify the characteristics of attendees of an open walk-in psychiatric clinic in a general hospital in Baghdad and the suburb towns of Iraq in the year 2010. As part of a retrospective survey, information on specific variables [socio-demographic background, clinical characteristics and attendance rate] was sought from medical records in the year 2010 [January to December]. Despite the shortcomings expected from a country coming out of the ravage of war, the survey included 2,979 attendees [1,864 [63%] males and 1,115 [37%] females] of a walk-in psychiatric clinic who fulfilled the inclusion criteria. The profile of attendees indicated that a majority of the cohort was self-referred with a predominance of employed males, aged 19 to 49 years, residing in Baghdad City. Depression and psychosis were the most common diagnosis given. The observed patterns are discussed within the available literature relevant to consultation liaison psychiatry, and specific to situations in Iraq and Arab/Islamic cultural patterning.

16.
Oman Medical Journal. 2013; 28 (6): 454-456
em Inglês | IMEMR | ID: emr-142970

RESUMO

The Epworth sleepiness scale is a self-administered eight-item questionnaire that was developed as a tool to measure subjective sleepiness in adults. The validity of the Epworth sleepiness scale has been validated and tested in different populations and ethnic groups. However, it has yet to be validated or tested in an Omani or other Arabic speaking population. Thus, the aim of this study is to test the validity and reproducibility of the Epworth sleepiness scale in an Omani population. Subjects were recruited from the general population and were asked to participate in the study. The study enrolled 97 Omani volunteers and was conducted between May and October 2008. An Arabic version of the original English questionnaire was used. The study was approved by the Research and Ethics committee of the institution. Lin's concordance correlation coefficient along with Bland-Altman plots were used to test the agreement between the Arabic and English versions of the Epworth sleepiness scale. The study included a total of 37 males [38%] and 60 females [62%] with age ranging between 18-75 years. Concordance correlation results revealed a substantial concordance [RhoC] of 0.914, but one that does not approach 1 [95% CI: 0.881, 0.947]. This results from both lack of perfect correlation [Pearson's r=0.914] and bias [C_b = 1.000]. The Bland and Altman's limits-of-agreement measured at 0.000 [95% CI: -2.684, 2.684], indicating insignificant average departure from agreement between the two versions of the Epworth sleepiness scale. The results indicate agreement between the two versions of ESS [English and the Arabic].


Assuntos
Humanos , Masculino , Feminino , Reprodutibilidade dos Testes , Sono/fisiologia , Idioma , Inquéritos e Questionários , Apneia Obstrutiva do Sono/diagnóstico , Autorrelato
17.
SQUMJ-Sultan Qaboos University Medical Journal. 2013; 13 (2): 248-255
em Inglês | IMEMR | ID: emr-126027

RESUMO

Pathways to care or care-seeking, which translate into healthcare utilization, have been investigated in many parts of the world, but there is a dearth of studies in the Arabian Gulf. The aim of this study was to examine the characteristics of attendees at primary healthcare centres in northern Oman and their reasons for visiting. Face-to-face interviews were conducted with 676 participants attending 12 primary healthcare centres between June and July 2006. The catchment area was selected to represent the population structure in Oman. The 12-item questionnaire was read to every fifth eligible patient entering each healthcare centre for a routine appointment. Analyses were conducted using univariate statistics. About a third [n = 200; 29.6%] of the participants had a history of chronic illness; 231 [34%] were on regular medications; 211 [31%] were taking part in health education programmes; 130 [19%] were open to complementary medicine. The majority of the participants mentioned physician's advice [n = 570; 84%] as the strongest reason for seeking consultation. Conversely, physician's advice was strongly related to particular demographic factors. This observational study identified some characteristics and reasons for visiting healthcare facilities in northern Oman. These are discussed within the context of prevailing sociocultural factors. The implications for the prevention and detection of ill health in Oman are also discussed


Assuntos
Humanos , Feminino , Masculino , Encaminhamento e Consulta , Centros Comunitários de Saúde , Atitude Frente a Saúde , Relações Médico-Paciente
18.
IJPM-International Journal of Preventive Medicine. 2013; 4 (6): 656-663
em Inglês | IMEMR | ID: emr-138469

RESUMO

Fatalities from road traffic crashes [RTCs] are a public health challenge for low- and middle-income countries, especially those experiencing epidemiological transition. This paper aims to describe demographics and trend analysis of fatalities of RTCs in Oman from 1995 to 2009. The RTC data from 1995 to 2009 were obtained from the published reports of the Royal Oman Police [ROP]. Data were extracted on the distribution of deaths by age, sex, nationality, mode of travel [driver, passenger, pedestrians], and type of vehicle [four- vs. two-wheelers]. Trend analyses were carried out using the Chi-square for the percentages of deaths and linear regression for rates. A total of 9,616 deaths from RTCs were reported from 1995 to 2009. Of 9,616 fatalities, 4,666 [48.5%] were aged 26-50 years, 7,927 [82.4%] were males, 7,215 [75.0%] were Omanis, and 2,278 [23.8%] were pedestrians. Overall, mortality increased by around 50% from 479 deaths during 1995 to 953 deaths during 2009. There was a significant increase in the proportion of deaths [P < 0.05] and death rates [P < 0.05] among individuals aged 26-50 years, males, Omani nationals, and drivers. The number and rate of RTC fatalities due to overspeeding was also increased [P < 0.05]. Fatalities due to RTCs in Oman are increasing, especially among those aged 26-50 years, males, drivers, and Omani nationals with over speeding as a major cause of road traffic fatalities. There is a need for more research in understanding the risk-taking behaviors of young drivers, and sociocultural factors, especially among Omani nationals to target interventions


Assuntos
Humanos , Feminino , Masculino , Veículos Farmacêuticos , Saúde Pública , Modelos Lineares , Mortalidade , Assunção de Riscos
19.
Oman Medical Journal. 2013; 28 (1): 48-52
em Inglês | IMEMR | ID: emr-146731

RESUMO

Proprotein convertase subtilisin/kexin type [PCSK9] is a crucial protein in LDL cholesterol [LDL-C] metabolism by virtue of its pivotal role in the degradation of the LDL receptor. Mutations in the PCSK9 gene have previously been found to segregate with autosomal dominant familial hypercholesterolemia [ADFH]. In this study, DNA sequencing of the 12 exons of the PCSK9 gene has been performed for two patients with a clinical diagnosis of familial hypercholesterolemia where mutation in the LDL-receptor gene hasn't been excluded. One missense mutation was detected in the exon 9 PCSK9 gene in the two ADFH patients. The patients were found to be heterozygote for Ile474Val [SNP rs562556] Using an array of in silico tools, we have investigated the effect of the above mutation on different structural levels of the PCSK9 protein Although, the mutation has already been reported in the literature for other populations, to the best of our knowledge this is the first report of a mutation in the PCSK9 gene from the Arab population, including the Omani population


Assuntos
Humanos , Masculino , Feminino , Hipercolesterolemia/genética , Mutação , Genes Dominantes , Transtornos Cromossômicos , Pró-Proteína Convertase 2 , LDL-Colesterol
20.
Oman Medical Journal. 2013; 28 (3): 199-203
em Inglês | IMEMR | ID: emr-140359

RESUMO

While SLE is found worldwide, there is diversity in clinical presentation of the disease according to geographical variations. The aim of this study is to describe geographical distributions of childhood onset SLE within Oman to identify geographical clustering and to compare the demographic, clinical, and immunological characteristics of this cluster against the rest of Oman. We retrospectively reviewed the hospital charts of 104 consecutive children with childhood onset SLE who were seen in pediatric rheumatology centers in the Sultanate of Oman over a 15- year period between 1995 and 2010. Geographical clustering of childhood onset SLE was identified in Sharqiya region, which constituted 41% [n=43] of all cases in Oman. This cohort of patients had characteristic disease features which consisted of significantly more boys affected with SLE compared to the rest of the country [42% versus 15%; p=0.002]. These children also tended to be younger [10.3 versus 16.5 years; p=0.001], diagnosed at an earlier age [6.4 versus 9.4 years; p<0.001] with a stronger family history of SLE [58% versus 33%; p=0.010]. These children also had increased incidence of mucocutanous changes [81% versus 62%; p=0.036] and decreased hematological abnormalities [30% versus 51%; p=0.036]. We identified geographical clustering of childhood onset SLE to Sharqiya region in Oman which is associated with unique demographical and clinical features. Whether increased prevalence of disease in this region is due to geographical, environmental, ethnic or genetic factors is yet to be determined. However, it is likely to be interplay of known and other unrecognized factors


Assuntos
Humanos , Masculino , Feminino , Análise por Conglomerados , Estudos Retrospectivos , Criança , Demografia
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