Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.

OBJECTIVES: Cystic fibrosis transmembrane conductance regulator (CFTR) mutations form distinct mutational panels in different populations and subgroups. The frequency of cystic fibrosis (CF) mutations and prevalence are unknown in Oman. This study aimed to elucidate the mutational panel and prevalence of CF for the North Al Batinah (NAB) region in Oman and to estimate the national prevalence of CF based on the carrier screening of unrelated volunteers. METHODS: The study included retrospective and prospective analyses of CF cases in the NAB region for 1998-2012. Genetic analysis of disease-causing mutations was conducted by screening of the entire coding sequence and exon-intron borders. The obtained mutational panel was used for the carrier screening of 408 alleles of unrelated and unaffected Omani individuals. RESULTS: S549R and F508del were the major mutations, accounting for 89% of mutations in the patient population. Two private mutations, c.1733-1734delTA and c.1175T>G, were identified in the patient cohort. Two carriers, one for F508del and another for S549R, were identified by screening of the volunteer cohort, resulting in a predicted prevalence for Oman of 1 in 8,264. The estimated carrier frequency of CF in Oman was 1 in 94. The carrier frequency in the NAB region was 3.9 times higher. CONCLUSION: The mutational panel for the NAB region and the high proportion of S549R mutations emphasises the need for specific screening for CF in Oman. The different distribution of allele frequencies suggests a spatial clustering of CF in the NAB region.

A personal computer-based undergraduate medical school curriculum using SOLE.

BACKGROUND: We describe our experience with a personal computer and Web-based undergraduate curriculum for preclinical medical students using the Secure Online Environment (SOLE) education and information system. DESCRIPTION: To test the potential effectiveness of SOLE as a learning tool, we analyzed the patterns of SOLE usage, usage intensity, and consistency among medical students in two preclinical courses (4th-year Human Function and 5th-year Pathology) and attempted to link these indicators to academic performance. Categories of SOLE usage included number of website log-ins and number of pages viewed per course. EVALUATION: We found that A- and B-grade 4th-year students accessed course materials more frequently than did C- to failing-grade students, and both median and mean number of SOLE log-ins declined as student performance decreased. Higher-graded students were also more consistent in their usage of SOLE than were lower graded students. The range of log-in numbers (variability in frequency of usage) was greater for C- to failing-grade students than for A- and B-grade students. Compared to their 4th-year counterparts, 5th-year students increased their intensity of SOLE usage (indicated by the number of pages viewed) dramatically and numbers were comparable for A- and B-grade and for C- to failing-grade students. Consistency of usage, however, still remained higher for better performing students. Furthermore, students preferred SOLE to a traditional paper-based curriculum and felt it improved teaching effectiveness. Based on usage data and student preferences and perceptions we found Web-based SOLE to be an effective and well-accepted educational tool for preclinical medical students. CONCLUSIONS: This integrative, online educational and information system offers numerous opportunities and advantages for self-assisted instruction that can serve as a foundation for clinical training and professional lifelong learning.

Acute bacterial meningitis among children < 5 years of age in Oman: a retrospective study during 2000-2005.

BACKGROUND: During the last two decades, significant changes have taken place in the epidemiology of meningitis, especially due to the global availability and expanding use of Hib vaccines. The introduction of conjugate Hib vaccine in the Expanded Programme of Immunization (EPI) in Oman and recent availability of meningococcal vaccines against serogroups A and C plus the introduction of pneumococcal heptavalent conjugate vaccine are expected to influence the epidemiology of the disease in the country. We conducted this periodic review of acute bacterial meningitis in children younger than five years of age in Oman from January 2000 to December 2005 to reflect changes in the epidemiological pattern of these pathogens. METHODOLOGY: Retrospective analysis of all cases of acute bacterial meningitis in children younger than five years of age reported to the Department of Communicable Diseases Surveillance and Control, Ministry of Health, Oman. RESULTS: There were 344 cases of meningitis due to suspected bacterial etiologies reported in children younger than 5 years of age. Although Haemophilus influenzae 76 (22%) was the most common pathogen identified during the study period, the incidence of meningitis due to Haemophilus influenzae has been dramatically reduced since the introduction of conjugate Hib vaccination in Oman in October 2001. Streptococcus pneumoniae 53 (15%) and Neisseria meningitidis 37 (11%) were the next two leading agents of meningitis respectively. In one hundred seventy four (52%) cases of presumptive bacterial meningitis, the etiologic organism remains unidentified. The peak occurrence of meningitis was in young children younger than one year old. The total male to female ratio was 1.4:1 and the case fatality rate (7 deaths) was 2%. CONCLUSIONS: With the introduction of Hib vaccine in Oman in October 2001, the absolute number of cases due to Haemophilus influenzae significantly declined over the years. The incidence of meningitis due to other pathogens such as S. pneumoniae and N. meningitidis remains steady. There is significant need to improve laboratory methods of bacterial detection and identification, which will help to formulate better antibiotic policies and strengthen control measures through newly introduced vaccines in Oman.

Identifying futility in a neonatal intensive care unit setting.

OBJECTIVE: Caring for infants born with lesions that are either incompatible with life or conditions that will not allow meaningful survival is an ethical dilemma. Provision of intensive ineffective care to these infants may be labeled as "futile care" which can consume a major proportion of total hospital expenditure. We conducted the present study to look at the extent of futility in a neonatal intensive care unit (NICU) setting. METHODS: All neonates with lesion either incompatible with life or conditions that will not allow meaningful survival admitted during April 2003 to September 2003 in the Neonatal Intensive Care Unit, Royal Hospital, Muscat, Sultanate of Oman, were reviewed to identify futility. Bed days were used as surrogate for extent of futile care and resource consumption. RESULTS: A total of 355 infants were admitted to the NICU during the study period representing 4452 consecutive patient bed days. Twenty-five infants fulfilled the criteria of futility. Total length of stay of futile group was 317 (7.1%) days as compared to 4153 (92.8%) days in the non-futile group. CONCLUSION: The bed occupancy for futile care cases was less than 8% of all the NICU beds suggesting only a small proportion of resource consumption. Based on this, expecting cost savings from further limiting futile care in neonates is not warranted and is negligible. Ethically, we are assured that the majority of the care provided to our sick neonates are appropriate.

Head size at birth in neonates with transposition of great arteries and hypoplastic left heart syndrome.

OBJECTIVE: Appropriate fetal brain growth depends upon the cerebral blood flow (CBF). Different congenital heart defects (CHDs), due to the difference in anatomy and physiology, alter the intrauterine CBF. Thus, variable brain growth is expected in different CHDs that is reflected by variability in the head circumference (HC) at birth. The present study was carried out to compare the HC of babies born with transposition of great arteries (TGA) and hypoplastic left heart syndrome (HLHS) in comparison to normal control. METHODS: The data on the HC of neonates with TGA and HLHS were extracted from the computer database then compared with the control group. During the period from January 1996 to December 2003, a total of 7396 neonates were admitted, out of which 639 (8.6%) were admitted with the diagnosis of the CHD. After correcting for gestational age and non-availability of HC measurements, 236 infants were excluded. Out of the remaining 403 term appropriate for gestational age (AGA) infants, 46 had TGA while 28 had HLHS. The control group comprised of a total of 74 term AGA infants. RESULTS: The mean HC for the control group was noted to be 34.4 +/- 1.7 centimeters (cms), 33.7 +/- 1.5 cms for TGA while it was 32.9 +/- 1.3 cms for HLHS. The head size at birth for newborn with HLHS was significantly smaller than the TGA (p=0.03) and control group (p=0.001). Similarly, HC of TGA group was significantly smaller than the control group (p=0.02). CONCLUSION: The newborns with TGA and HLHS are found to have significantly small head size at birth. The clinical significance of this finding with respect to the neurodevelopmental outcome and value of early antenatal intervention to repair these defects remains to be evaluated in further studies.

Use of nasal intermittent positive pressure ventilation to avoid intubation in neonates.

OBJECTIVE: Nasal intermittent positive pressure ventilation (NIPPV) has widely been used in neonates to prevent extubation failure and apnea. This pilot study was carried out to look at the early use of NIPPV to avoid intubation. METHODS: The study was carried out over a period of 3 months from August 2003 to October 2003 at the Royal Hospital, Muscat, Sultanate of Oman. The neonates with clinical signs of moderate to severe respiratory distress were given a trial of early NIPPV based on the avoid-intubation protocol. Inclusion, exclusion and failure criteria with general procedure were made clear to all medical and nursing staff and the protocol was posted in the unit for further time to time referral. RESULTS: A total of 16 neonates met the inclusion criteria for early NIPPV trial. Out of these, 13 (81%) had a successful NIPPV. The mean age of entry was 0.95 hours; however, the mean duration of NIPPV was 23 hours. No NIPPV related complications were noted in the study group. CONCLUSION: We concluded that NIPPV is an appropriate mode of ventilation in neonates requiring respiratory support. The major advantage of NIPPV is the non-invasive mechanics. It is also less expensive and less labor intensive. Further randomized controlled trials with larger sample size are warranted to confirm our findings.

Pulmonary hypertension in neonates: does the cause influence the outcome?

OBJECTIVE: To determine the influence of the cause of pulmonary hypertension in neonates on overall outcome. DESIGN: Analytical study. PLACE AND DURATION OF STUDY: Special Care Baby Unit (SCBU) at Royal Hospital in Muscat, Sultanate of Oman, from July 1998 to June 2003. PATIENTS AND METHODS: All neonates with the diagnosis of pulmonary hypertension, based on history, clinical examination and 2-D echocardiogram were reviewed with respect to the cause of hypertension (primary or secondary), birth weight, Apgar score, gender, inborn/outborn and outcome. According to the outcome, neonates were divided into two groups, group A (survived) and group B (expired). Both groups were compared for described variables using Statistical Package for Social Sciences, version 7.5 for Windows and Epi Info version 6. RESULTS: Out of 37 neonates with pulmonary hypertension, Group A comprised of 22 neonates while group B had 15 neonates, giving a mortality of 40 % (15/37). The mean birth weight between the two groups showed no significant differences, 3088 +/- 479 gram and 2962 +/- 454 gram, p =0.42, respectively. Similarly, no difference in the one and five Apgar scores were noted, 4.9 +/- 2.1 and 4.7 +/- 1.3, p = 0.73 and 7.4 +/- 1.5 and 6.7 +/- 1.4, p = 0.16, respectively. The place of birth had also no significant influence on the outcome, however, the cause of pulmonary hypertension was noted to be significantly associated with the outcome, p =0.004. CONCLUSION: The cause of pulmonary hypertension in neonates does influence the survival. Primary pulmonary hypertension in neonates was noted to be associated with poor outcome as compared to secondary pulmonary hypertension.

Growth centiles for Omani premature infants born at 26 weeks of gestation.

OBJECTIVE: The present growth chart used in the Sultanate of Oman does not contain centile measurements for infants born at 26-weeks of gestation. With the increased survival of these premature infants, there is a growing need to develop such a chart. The present study was conducted with the aim to look at the anthropometric measurements (weight, length and head circumference) of Omani premature infants born at 26-weeks of gestation and to develop centile charts for these measurements. METHODS: The study was conducted at the Special Care Baby Unit (SCBU) of the Royal Hospital, one of the major perinatal institutions in Muscat, Oman. A computerized database is maintained for all the admissions from 1996. We extracted the required anthropometric data for all 26-week gestation premature Omani infants admitted to SCBU from January 1996 to November 2003. A total of 49 babies were admitted during that period. Out of these, 43 had complete information on the growth parameters, including birth weight, length and head circumference. These parameters were noted down and by using the statistical package, an analysis was performed to get the normal distribution curve. By using the Microsoft Excel program, graphs were generated for all the 3 growth parameters. RESULTS: The mean birth weight for the premature infants born at 26-week gestation was noted to be 908 +/- 156 grams, with length and head circumference of 33.5 +/- 2.5 and 24.5 +/- 1.7 centimeters. The normal distribution curve was obtained with minimal skewing. CONCLUSION: We were able to generate centile charts of the anthropometric measurements for Omani infants born at 26-weeks of gestation. The next step is to collect the national data from other institutions in Oman and then incorporate it into the present growth chart to make the charts more valid, reliable and applicable.

Indomethacin prophylaxis for intraventricular hemorrhage in very low birth weight babies.

OBJECTIVE: To study the efficacy and complications of low dose indomethacin in the reduction of major intraventricular hemorrhage (IVH) in very low birth weight (VLBW) babies. DESIGN: prospective randomized controlled trial (interim analysis) SETTING: Level III neonatal intensive care unit of a perinatal tertiary care center. PATIENTS: Newborn babies with birth weights between 750-1250 g were randomized into indomethacin or control groups. They were further stratified into two birth weight groups 750-999 g and 1000-1250 g for subgroup analysis. INTERVENTIONS: 3 doses of indomethacin were administered to the indomethacin group at the dose of 0.1 mg/kg/dose intravenously. The control group did not receive any specific intervention other than standard neonatal intensive care. OUTCOME MEASURES: The primary outcome measure was the occurrence of IVH and the secondary outcome measures were necrotising enterocolitis, symptomatic patent ductus arteriosus (PDA), bleeding episodes, renal failure, chronic-lung disease and death. RESULTS: Out of 115 eligible newborn babies, 56 babies received indomethacin and 59 were controls. Perinatal characteristics were similar between the two groups. There was no difference in the incidence of IVH between the groups but on subgroup analysis the incidence of major IVH (grades III and IV) were significantly increased in babies in the lower birth weight category who received indomethacin P = 0.03). The incidence of chronic lung disease was significantly higher in the indomethacin group (P = 0.005) and bleeding episodes other than IVH were also significantly increased in the indomethacin group (P = 0.04) in the lower birth weight category. The incidence of PDA was lower in the indomethacin group but only reached significant level in the higher birth weight subgroup (P = 0.02). There were no significant differences in the other outcome measures studied. CONCLUSIONS: Indomethacin prophylaxis did not confer protection against IVH in very low birth weight babies. Instead it showed an increase in the risk of IVH, other bleeding episodes and chronic lung disease. Based on this data we felt that we were not ethically justified in continuing the use of indomethacin and have since terminated this study.

Immunogenicity of measles and rubella vaccines in Oman: a prospective clinical trial.

A prospective immunogenicity trial of measles and rubella vaccines was conducted in Oman. Children received measles vaccine at age 9 months and measles-rubella vaccine at age 15 months. Serum specimens were tested for measles-specific IgG and rubella-specific IgG. Of 1025 eligible infants, 881 (86.0%) returned for all five visits and had adequate serum samples for testing. Seroconversion to measles after vaccination at 9 months was 98.1%. At 15 months, 47 (5.3%) of the 881 children were seronegative for measles; of these, 44 (93.6%) seroconverted. At 16 months, 99% of the children seronegative at age 9 months seroconverted after receiving two doses of measles vaccine. At age 15 months, 684 (77.6%) children were seronegative for rubella. Of these, 676 (98.8%) seroconverted by age 16 months. One dose of measles vaccine at age 9 months was highly immunogenic. One dose of measles-rubella vaccine at age 15 months closed the remaining measles immunogenicity gap and resulted in a high rate of rubella seroconversion.

Kernicterus and G6PD deficiency--a case series from Oman.

The relationship between glucose-6 phosphate dehydrogenase (G6PD) deficiency and jaundice in the newborn period is well recognized. However, there is concern about the increasing incidence of kernicterus being reported worldwide, especially due to unrecognized G6PD deficiency and early discharge from hospital after birth. We report a case series of kernicterus from a set-up where the high prevalence rate of G6PD deficiency is known. Fourteen cases of kernicterus were seen during a time period of 6 years, 71 per cent of them had G6PD deficiency. Recent literature is reviewed and possible preventive measures in the light of current information and practices are suggested.

Kawasaki disease in Oman--a clinical study.

A total of 39 patients were diagnosed to have Kawasaki disease by the standard diagnostic criteria, at The Royal Hospital, Muscat, Oman, during the period January 1995 to August 2002. A retrospective analysis of the case records of the patients with the diagnosis of Kawasaki disease was done. The results of the clinical features and the laboratory manifestations of the patients, who are from the Middle East region, are presented. The peak age at presentation was 6-30 months, mean 29 months. Peak months of the occurrence of the disease were March and October. Oral lesions were found in all cases. The mean duration of hospital stay for these patients was 8.5 days, range 2-21 days. The total duration of fever ranged from 6 to 21 days, with a mean value of 9.4 days. An elevated erythrocytic sedimentation rate (ESR; 91.7 per cent) and a raised C-reactive protein (C-RP; 92.3 per cent) were the most significant laboratory findings. Echocardiographic abnormalities were found in 25 per cent of cases, the incidence of coronary artery involvement (dilatation with or without stenosis) being 12.5 per cent. High dose intravenous immunoglobulin (2 g/kg over a 12-h period) plus aspirin therapy was found to be safe and effective in patients with Kawasaki disease.