An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
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Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous family from Oman with spastic diplegia, microcephaly, and mental retardation. Additional manifestations include hyperreflexia, clumsiness, unstable gait, drooling, and dysarthria. There was phenotypic variability among different individuals, but spastic diplegia, microcephaly, and mental retardation were three constant traits present in all affected individuals. (+info)
Perception of stroke and knowledge of potential risk factors among Omani patients at increased risk for stroke.
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BACKGROUND: Previous studies have demonstrated poor knowledge of stroke among patients with established risk factors. This study aims to assess the baseline knowledge, among patients with increased risk for stroke in Oman, of warning symptoms of stroke, impending risk factors, treatment, and sources of information. METHODS: In April 2005, trained family practice residents at Sultan Qaboos University Hospital Clinics (cardiology, neurology, diabetic, and lipid clinics), using a standardised, structured, pre-tested questionnaire, conducted a survey of 400 Omani patients. These patients all demonstrated potential risk factors for stroke. RESULTS: Only 35% of the subjects stated that the brain is the organ affected by a stroke, 68% correctly identified at least one symptom/sign of a stroke, and 43% correctly identified at least one stroke risk factor. The majority (62%) did not believe they were at increased risk for stroke, and 98% had not been advised by their attending physician that their clinical conditions were risk factors for stroke. In the multivariable logistic regression analysis, lower age and higher levels of education were associated with better knowledge regarding the organ involved in stroke, stroke symptoms, and risk factors. CONCLUSION: Because their knowledge about stroke risk factors was poor, the subjects in this study were largely unaware of their increased risk for stroke. Intensive health education is needed to improve awareness of stroke, especially among the most vulnerable groups. (+info)
Positive health practices and depressive symptoms among high school adolescents in Oman.
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INTRODUCTION: The study aimed to investigate the association of health practices and depressive symptoms among high school adolescents in a national representative sample of 5,409 students in Oman. METHODS: Depressive symptoms were screened in 2004 through the application of the self-report 27-item Child Depression Inventory. Health practices scale comprised a simple sum of five healthy practices, namely: sleeping seven to eight hours at night, having breakfast daily, not eating between meals, not smoking the month prior to the study, and doing physical activities more than once per week apart from attending physical education classes in school. RESULTS: Sequential logistic regression models were run to test for the change in the odds-ratio (OR) of having depressive illness with a one point increase in the healthy practices scale, after adjustment for other risk factors of depression. Health practices remained having a significant protective effect on depression (OR is 0.72, 95 percent confidence interval is 0.64-0.80) even after adjustment to other significant covariates in the last model, such as history of chronic medical or mental illness diagnosed by a doctor, high scoring in chance health locus of control (HLC), low scoring in internal HLC, poor relationships with social contacts, and physical abuse during childhood or adolescence. CONCLUSION: Findings support the protective effects of positive health practices on adolescents' depression. (+info)
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
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Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. In order to identify novel BBS loci we undertook autozygosity mapping studies using high-density SNP microarrays in consanguineous kindreds. We mapped a BBS locus to a 10.1 Mb region at 12q15-q21.2 in a large Omani BBS family (peak lod score 8.3 at theta = 0.0 for marker D12S1722) that contained the recently described BBS10 locus. Mutation analysis of candidate genes within the target interval, including the BBS10 gene, revealed a homozygous frameshift mutation in FLJ23560 and mutations were also detected in four smaller consanguineous families with regions of autozygosity at 12q21.2. These findings (a) confirm a previous report that FLJ23560 (BBS10) mutations are a significant cause of BBS, and (b) further demonstrate the utility of high-density SNP array mapping in consanguineous families for the mapping and identification of recessive disease genes. (+info)
Compliance of physicians with documentation of an asthma management protocol.
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BACKGROUND: Studies continue to show poor physician compliance with asthma management guidelines in clinical practice. However, standardized protocols specifically designed to be practical and user-friendly improve patient outcomes. OBJECTIVE: To determine the degree of physicians' compliance with the documentation of an asthma management protocol in a university hospital. METHODS: A simple asthma management protocol was designed and applied in our pulmonary clinic and primary care clinic for asthma. The protocol was based on the 1998 Manual for the Management of Asthma, from the Oman Ministry of Health, which follows internationally recognized guidelines. The protocol consisted of 4 sections: clinical history, peak expiratory flow (PEF) data, medication section, and simplified asthma management guidelines. RESULTS: All 30 physicians scheduled to conduct asthma clinics in the pulmonary clinic (14 physicians) and the primary care clinic (16 physicians) agreed to use the protocol. A total of 282 protocol forms were collected: 130 forms from 6 senior physicians and 152 from 24 junior physicians. Documentation of the entire clinical history was 65%, with the senior physicians scoring significantly higher documentation-completion rates (82%) for all components of the history than the junior physicians (50%). Documentation of all PEF data was poor (26%), despite high documentation of the PEF value itself (95%). There were significant differences in documentation of percent-of-predicted PEF between junior physicians in primary care clinic (70%) and other physicians (19%). Documentation of the entire medication section was only 34%. Although documentation of prescribed medicines was high (92%), compliance (48%) and inhaler technique (49%) documentation was low, with similar patterns demonstrated by all physicians. Documentation of the entire protocol by all physicians was low (9%), with junior physicians in the primary care clinic completing 28% of their forms. CONCLUSIONS: Our protocol enabled us to identify opportunities for improvement in documentation of asthma management in both the pulmonary and primary care clinics. The findings highlight the need for regular asthma education programs for all physicians, with a focus on documentation of performance skills such as monitoring of PEF and inhaler technique. (+info)
Quality of interaction between primary health-care providers and patients with type 2 diabetes in Muscat, Oman: an observational study.
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BACKGROUND: A good patient-physician interaction is particularly important in chronic diseases like diabetes. There are so far no published data regarding the interaction between the primary health-care providers and patients with type 2 diabetes in Oman, where diabetes is a major and growing health problem. This study aimed at exploring how health-care providers interact with patients with type 2 diabetes at primary health-care level in Muscat, Oman, focusing on the consultation environment, and some aspects of care and information. METHODS: Direct observations of 90 consultations between 23 doctors and 13 diabetes nurses concerned with diabetes management during their consultations with type 2 diabetes patients in six primary health-care centres in the Muscat region, using checklists developed from the National Diabetes Guidelines. Consultations were assessed as optimal if more than 75% of observed aspects were fulfilled and sub-optimal if less than 50% were fulfilled. RESULTS: Overall 52% of the doctors' consultations were not optimal. Some important aspects for a positive consultation environment were fulfilled in only about half of the doctors' consultations: ensuring privacy of consultation (49%), eye contact (49%), good attention (52%), encouraging asking questions (47%), and emphasizing on the patients' understanding of the provided information (52%). The doctors inquired about adverse effects of anti-diabetes drugs in less than 10% of consultations. The quality of the nurses' consultations was sub-optimal in about 75% of 85 consultations regarding aspects of consultation environment, care and information. CONCLUSION: The performance of the primary health-care doctors and diabetes nurses needs to be improved. The role of the diabetes nurses and the teamwork should be enhanced. We suggest a multidisciplinary team approach, training and education to the providers to upgrade their skills regarding communication and care. Barriers to compliance with the guidelines need to be further explored. Improving the work situation mainly for the diabetes nurses and further improvement in the organizational efficiency of diabetes services such as lowering the number of patients in diabetes clinic, are suggested. (+info)
Magnitude of impacted earwax in Oman, its impact on hearing impairment and economic burden of earwax on health services.
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BACKGROUND: Wax in ear canal causes a sizeable burden on resources of health services to a country. AIM: The magnitude of impacted wax, its effect in a survey and cost of managing this problem were reviewed in 2002. SETTINGS AND DESIGNS: A study was conducted during 1996 to estimate the magnitude and causes of hearing impairment and ear diseases in Oman. The authors further reviewed the data of community-based prevalence study to assess the role of impacted wax. MATERIALS AND METHODS: Trained physicians used portable audiometers to test the hearing status of each ear. They used otoscopes to examine the ear. Persons suspected to have hearing impairment or ear disease were reexamined by audiologists and otologists to determine the causes of hearing impairment. The resources for managing impacted wax were also calculated. RESULTS: In this survey, 11,402 subjects of all ages were examined. Prevalence of impacted wax was 11.7% (CI 95% 11.1-12.2). Impacted wax was significantly higher in females compared to males [RR = 1.22 (CI 95% 1.10-1.35)]. It was more common in residents of regions with humid environment than those of regions with less humidity [RR = 1.91 (CI 95% 1.67-2.18)]. Impacted wax in ear canal was associated with ear diseases. A total of 181,000 Omani people were estimated to have impacted wax in the ear canal. Managing impacted wax could cost 3.6 million US dollars to the ear care services. CONCLUSIONS: Impacted wax was a hindrance in the hearing survey and countries should plan to deal with earwax in such surveys. Its impact on hearing impairment and resource burden should be considered while formulating policies for ear care. (+info)
The Gulf Survey on Anemia Management (GSAM 2005).
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We conducted this study to determine the achievements of the current practice guidelines in the management of anemia in the Arabian Gulf Countries. The survey was designed as a retrospective, one day screening of adult patients with end-stage renal disease in six Arabian Gulf countries including Saudi Arabia, Kuwait, Bahrain, Oman, United Arab Emirates and Qatar. Data were collected on patients undergoing chronic dialysis. For random patient sampling, each participating center drew up an alphabetical list of all hemodialysis (HD) or peritoneal dialysis (PD) patients which were 18 years or older and selected every fourth patient on the list. A total of 563 patients from 18 centers were included in the survey. The most common cause of end-stage renal failure was diabetic nephropathy, closely followed by chronic glomerulonephritis. The majority of patients were treated by HD, with only 20% receiving PD. The mean (+/-SD) hemoglobin (Hgb) concentration was 115 +/- 15 g/L (median, 115 g/L; range, 61-159 g/L). The Hgb concentration was > or = 110 g/L in 28%, > or = 120 g/L in 38% and < 100 g/L in 16%. Information on their iron status was available for 97% of patients, ferritin levels were available for 97% and TSAT values for 67% were available. The mean serum ferritin concentration for the study patients was 503 +/- 406 ng/ml (median, 390 ng/ml; range, 20.0-2960 ng/ml); 90.5% had a serum ferritin concentration > 100 ng/ml. We conclude that the results of our study demonstrate anemia management in the Gulf countries which is comparable to the European Survey on Anemia Management 2003 (ESAM 2003). However, many patients still have not reached the current recommendation of anemia management. (+info)