Search

The physiological actions of thyroid hormone (TH) are mediated through TH alpha and TH beta receptors. Resistance to TH (RTH) is characterized by a lack of peripheral tissues’ response to the active form of TH. TH receptor beta has been extensively studied. Mutations in this receptor were considered the main reason for TH resistance for some time up until the discovery of mutations in TH receptor alpha (TRα) that has attained more focus and interest in recent years. A 13-year-old child with classic hypothyroidism features (coarse facies, growth and developmental delay, skeletal dysplasia, generalized muscular hypertrophy, and severe constipation) associated with near-normal thyroid hormone levels, which did not support the diagnosis of hypothyroidism biochemically. Therefore, progressing with whole-exome sequencing had revealed a de novo heterozygous mutation in a gene encoding TRα that establishes a diagnosis of RTHα. This case report demonstrates a rare form of TH resistance due to mutation of TRα. It also emphasizes that THs act through distinctive receptor subtypes in different target tissues. Moreover, this report aims to raise awareness about this genetic mutation, which is thought to be more common than expected. However, due to its subtle features and insidious presentation, many cases remain undiagnosed; hence, the disorder’s exact incidence is unknown.

Objectives: Structural and functional cardiovascular abnormalities have been reported in adults with osteogenesis imperfecta (OI); however, there is a lack of paediatric literature on this topic. This study aimed to investigate cardiovascular abnormalities in children with OI in comparison to a control group. Methods: This case-control study was conducted at the Sultan Qaboos University Hospital in Muscat, Oman, between May 2013 and August 2014. Data from eight patients with OI and 24 healthy controls were compared using conventional and tissue Doppler echocardiography (TDE). Results: The OI group had significantly lower peak early mitral valve flow velocity ( P = 0.027), peak a-wave reversal in the pulmonary vein ( P = 0.030) and peak early diastolic velocity of the mitral valve and upper septum ( P = 0.001 each). The peak late diastolic velocities of the mitral valve ( P = 0.002) and the upper septum ( P = 0.037) were significantly higher in the OI group; however, the peak early/late diastolic velocity ratios of the mitral valve ( P = 0.002) and upper septum ( P = 0.001) were significantly lower. Left ventricular dimensions and aortic and pulmonary artery diameters were larger in the OI group when indexed for body surface area. Both groups had normal systolic cardiac function. Conclusion: Children with OI had normal systolic cardiac function. However, changes in myocardial tissue Doppler velocities were suggestive of early diastolic cardiac dysfunction. They also had increased left ventricular dimensions and greater vessel diameters. These findings indicate the need for early and detailed structural and functional echocardiographic assessment and follow-up of young patients with OI. Keywords: Children; Osteogenesis Imperfecta; Cardiovascular Abnormalities; Doppler Echocardiography.

Objectives: Optimal glycemic control is an important goal in the management of type 1 diabetes mellitus (T1DM). Although the use of multiple daily injections (MDI) is a common regimen worldwide, its use is not yet universal in many countries. Our aim was to evaluate the effects of switching from a twice daily (BID) to a MDI insulin regimen in children and adolescents with T1DM in order to revisit its benefits in the Omani population. Methods: We conducted a retrospective cohort study of children and adolescents with T1DM at Sultan Qaboos University Hospital, Muscat, Oman, between January 2007 and June 2013. Patients using the BID regimen for more than six months who were then switched to MDI were included in the analysis. We compared glycated hemoglobin levels (HbA1c) before and after the regimen change. Results: Fifty-three children were eligible for the study. Ten patients were excluded for various reasons. The remaining 43 patients were 58% male and 42% female, with a mean age of 9.4±3.7 years. There was significant decrease in the overall mean HbA1c level from baseline (10.0) compared to three months after switching to MDI (9.5); p=0.023. Nevertheless, the improvement was not significant in the subsequent follow-up visits at six and nine months. The reduction in HbA1c values was observed mainly in children five to 11 years. Conclusions: Switching from a BID to MDI insulin regimen has favorable effects on the overall control of T1DM in children and adolescents, as assessed by HbA1c levels. In addition, this regimen has been proved to be safe and well tolerated by patients.

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation.

Objectives: To describe the demographic characteristics and clinical presentation of Omani children with type 1 diabetes mellitus at Sultan Qaboos University Hospital, Muscat, Oman. Methods: A retrospective analysis of all children with type 1 diabetes mellitus attending the Pediatric Endocrine Unit at Sultan Qaboos University Hospital, Oman from June 2006 to May 2013. Results: One hundred and forty-four patients were included in the study. The mean±SD of age at diagnosis was 6.7 ± 3.7 years. The median duration of symptoms was 10 days (IQR; 5-14). The most commonly reported presenting symptoms were polyuria (94%), polydipsia (82%), and weight loss (59%). Diabetic ketoacidosis at initial presentation was diagnosed in 31% of the patients. Different insulin regimens were prescribed: multiple daily injections in 109 (76%) patients, twice daily insulin regimen in 23 (16%) patients, and insulin pump therapy in 12 (8%) patients. Family history of type 1 diabetes mellitus was present in 31 (22%) patients. There were no significant differences in presenting complaints (polyuria, p=0.182; polydipsia, p=0.848), duration of symptoms (p =0.848), duration of symptoms (p =0.848), duration of symptoms ( =0.331), reported weight loss (p weight loss (p weight loss ( =0.753), or diabetic ketoacidosis at presentation (p (p ( =0.608) between patients with and without family history of type 1 diabetes mellitus. Conclusion: Polyuria, polydipsia and weight loss are the most common presenting symptoms. Family history of type 1 diabetes mellitus is highly prevalent among the studied patients. Diabetic ketoacidosis was found to be less common in Oman compared to other diabetes centers in the Middle East.

In November 2013, The College of Medicine and Health Sciences (COMHS) at Sultan Qaboos University (SQU) was “fully accredited” for a ten-year period (on its first attempt) by the Association for Medical Education in the Eastern Mediterranean Region (AMEEMR) in association with and in accordance with the standards of the World Federation for Medical Education (WFME).The accreditation decision was made on the basis that the MD Programme complies with the WFME’s “Basic and Quality Development Standards”.1 It is notable that COMHS’ “Quality Development Standards” are considered by the WFME as “Best Practice” thus conferring distinguished status on the COMHS’ MD Programme. This article describes the actions taken by the COMHS which led to this success. The achievement of accreditation was neither a sudden nor an unsystematic accomplishment. It was the result of a lengthy and extensive process of continuous improvement of the COMHS’ abilities and capacities that started long before the accreditation endeavour per se began in 2008. The process began by the construction of the “new” curriculum—an exercise that was accompanied and followed by other complementary measures. Only after that was the accreditation process initiated. Before explaining the process in more detail, a description of SQU and the COMHS might be helpful.

Diabetes has become one of the most challenging chronic diseases with its prevalence increasing in most countries worldwide. The Arabian Gulf countries face a similar increasing prevalence of diabetes. Diabetes care requires not only the support of the health authorities, but the contribution of all the sectors of the community and requires good financial support. In Oman, there are many factors which affect the care of diabetes. In this article, these factors are addressed and recommended solutions discussed.

Objective: From a recently instituted web-based pituitary tumour registry at Sultan Qaboos University Hospital, Oman, this study explores the results of comprehensive clinical evaluation, hormonal levels, radiological evidence of pituitary mass lesion using magnetic resonance (MRI) and the different treatment modalities. Methods: All patients who were diagnosed with pituitary mass tumours in our tertiary care endocrinology clinic between January 1998 and February 2006 were registered in the Oman pituitary tumour registry. Two physicians performed hospital chart review and data entry. Results: A total of 160 entries were made into the pituitary tumour registry. The overall mean age of the cohort was 32 ±12 years (age range 8-73 years). The majority of registrations were female (n=114; 71%). There were 81 patients with non-functioning adenomas (50.6%), 59 with prolactinoma (36.9%) eight with acromegaly (5%), seven with craniopharyngioma (4.4%), four with Cushing’s disease (2.5%) and one with sarcoidosis (0.6%). Sub-group analyses were done only for the subjects with the 3 most prevalent pituitary tumours (non-functioning adenomas, prolactinomas, and acromegaly). The most prevalent symptoms are amenorrhea-galactorrhea (n=55; 37%), headache (n=31; 21%) and fatigue (n=23; 16%). The most common treatment modality was medical (n=58; 39%), followed by observation (n=56; 38%), surgery (n=31; 21%) and surgery plus medical (n=3; 2%). None of the patients in this registry are recorded to have died. Conclusion: To our knowledge, this is the first pituitary tumour registry in the Arabian Gulf countries using a web-based programme. This tumour registry will enable us to characterize clinical and the epidemiological features of pituitary tumours in the Sultanate of Oman.

Objectives: Rigidity of the spine is common in adults but is rarely observed in children. The aim of this study was to report on rigid spine syndrome (RSS) among children in Oman. Methods: Data on children diagnosed with RSS were collected consecutively at presentation between 1996 and 2014 at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. A diagnosis of RSS was based on the patient’s history, clinical examination, biochemical investigations, electrophysiological findings, neuro-imaging and muscle biopsy. Atrophy of the paraspinal muscles, particularly the erector spinae , was the diagnostic feature; this was noted using magnetic resonance imaging of the spine. Children with disease onset in the paraspinal muscles were labelled as having primary RSS or rigid spinal muscular dystrophy. Secondary RSS was classified as RSS due to the late involvement of other muscle diseases. Results: Over the 18-year period, 12 children were included in the study, with a maleto-female ratio of 9:3. A total of 10 children were found to have primary RSS or rigid spinal muscular dystrophy syndrome while two had secondary RSS. Onset of the disease ranged from birth to 18 months of age. A family history was noted, with two siblings from one family and three siblings from another (n = 5). On examination, children with primary RSS had typical features of severe spine rigidity at onset, with the rest of the neurological examination being normal. Conclusion: RSS is a rare disease with only 12 reported cases found at SQUH during the study period. Cases of primary RSS should be differentiated from the secondary type. Keywords: Rigid Spine Syndrome; Rigid Spine Muscular Dystrophy; Selenoprotein; Children; Magnetic Resonance Imaging; Oman.

Diabetes mellitus is currently one of the most challenging public health problems worldwide. With a marked increase in its prevalence, it is reaching epidemic proportions in many countries.1 Globally, the diabetes rate has risen by 45% over the past two decades.2 The International Diabetes Federation (IDF) estimated that the number of adults affected by diabetes in 2013 was 387 million, with a projected increase of up to 592 million by 2035.3 In Arab countries, the prevalence of type 2 diabetes mellitus has increased dramatically over the past 30 years.4 According to the IDF, three Arabian Gulf countries are among the top 10 countries in the world with the highest prevalence of diabetes: Saudi Arabia (24%), Kuwait (23.1%) and Qatar (22.9%).5 In the May 2015 issue of SQUMJ, Al-Lawati et al. showed that Oman is following the same trend, with diabetes age-adjusted prevalence rates varying from 10.4% to 21.1%.6 Al-Lawati et al. also estimated that the number of patients diagnosed with diabetes in Oman will rise to 350,000 by the year 2050; an increase of 174% compared to estimates for 2015.6 The study also found a remarkable proportion of undiagnosed diabetes cases in Oman; this indicates that many individuals are living without treatment.6 The implications of these alarming statistics on the healthcare system in Oman should be addressed and effective solutions to combat this trend be planned and implemented. The key risk factors for the development of diabetes include a genetic predisposition, poor dietary habits, a family history of the disease and a lack of physical activity.7 The prevalence of obesity among Arab countries has increased rapidly in the last few decades.8 Poor dietary habits and inadequate physical activity have contributed to large numbers of overweight and obese individuals, which will ultimately lead to increased cases of diabetes.9 Research conducted by Ng et al. showed that several countries in the Middle East have had the largest increase in obesity rates globally, including Bahrain, Egypt, Saudi Arabia, Oman and Kuwait.10 In Oman, the prevalence of overweight/obese individuals was reported to be 54% among men and 73% among women.10 Easy access to processed junk foods, cheap transportation methods and technology-based jobs that limit physical activity have resulted in a disturbance of metabolism leading to obesity and diabetes.11 It has been proposed that almost 80% of diabetes cases are preventable if individuals maintain a healthy body weight by taking part in regular physical activity and eating a well-balanced diet.12 The chronic nature of the disease, severity of its complications and means of controlling the condition makes diabetes a costly affair, not only for the affected individual and their families, but also for healthcare authorities.11 Consequently, the globally increasing prevalence of diabetes has resulted in an increase in related healthcare costs, particularly in developing countries.2 A study carried out by the American Diabetes Association estimated that the total cost of diagnosed diabetes cases in the USA had risen from USD $174 billion in 2007 to USD $245 billion in 2012, which is a 40% increase over a five-year period.13 In India, the annual healthcare cost of diabetes cases has been reported as approximately USD $2.2 billion.14 In Oman, no in-depth studies have yet evaluated the cost of diabetes to the healthcare system; however, the IDF have reported that the mean diabetes-related health expenditure per diabetes patient in Oman is approximately USD $500–1,500.5 In order to effectively control diabetes at a national level, it should be the responsibility of diabetes educators and physicians in Oman to create public awareness about basic concepts of disease management, such as glycated haemoglobin measurements, dietary control, sufficient exercise, carbohydrate counting and multiple daily injections.11 The Secretariat of Health in Mexico implemented a structured diabetes education programme which aimed to provide better healthcare and improve quality of life for diabetic patients; it was subsequently found that the programme resulted in an increased number of people with well-controlled diabetes.15 In Oman, not all primary healthcare facilities have diabetologists or the necessary equipment for the early detection of diabetes. Therefore, most cases are attended by non-specialised primary healthcare physicians which affects the quality of care received by diabetic patients.11 The Omani healthcare system needs to upgrade its existing healthcare policies to follow the current World Health Organization (WHO) chronic care model which has been implemented in the UK, Australia, New Zealand and Canada.11 There should be more resources allocated to diabetes care in Oman for better prevention, diagnostic infrastructure, convenience and affordability of treatment as well as skilled healthcare workers, as suggested by the WHO Global Strategy.16 The initiative of a National Diabetes Centre in Oman in March 2013 was the first step towards creating an organisational body for awareness and diabetic care in the country; this centre should be further strengthened and expanded to provide better diabetic healthcare. This could be achieved by establishing regional diabetes centres in each governorate of Oman. These centres should be equipped with all the necessary medications and resources needed for diabetic patients and have a diabetologist, diabetes nurse and dietician on staff. The role of these regional centres should not be limited solely to treating diabetic patients, but should also aim to prevent diabetes and its complications. This may be achieved by implementing health education campaigns in local communities and creating groups for peer support and patient empowerment. The presence of these centres in all regions of Oman would facilitate patient compliance, help in lowering the number of undiagnosed diabetes cases and prevent a further increase in diabetes prevalence. A low-cost alternative to this would be to hold outreach clinics, where diabetic experts could travel to underprivileged areas and conduct educational, diagnostic and therapeutic campaigns. Finally, the continuous training of primary healthcare professionals in diabetes care and prevention is an essential tool for improving the management of diabetes in Oman.

Objective: Published studies on the prevalence of celiac disease in type 1 diabetes mellitus from the Arab World are scant. We aim to report the prevalence of celiac disease in Omani children with type 1 diabetes mellitus. Methods: Children with type 1 diabetes mellitus were prospectively screened for celiac disease, at Sultan Qaboos University Hospital, Muscat, Oman over a period of one year ( June 2011 - May 2012). Serum anti tissue transglutaminase IgA, endomysial IgA antibodies and total IgA were measured for screening of celiac disease. Children with positive anti-tissue transglutaminase and/or endomysial IgA antibodies underwent endoscopy. Results: A total of 103 children with type 1 diabetes mellitus were initially included. Ten patients were lost to follow up. Ninety-three patients aged 2-17 years underwent screening for celiac disease. Sixteen patients had positive anti-tissue transglutaminase (17%). Fourteen patients underwent endoscopy with duodenal biopsies, while two were lost to follow-up. Five patients with positive antitissue transglutaminase had intestinal biopsy proven celiac disease. The prevalence of celiac disease is 5.5% in our cohort of children and adolescents with type 1 diabetes mellitus. Conclusions: The prevalence of celiac disease in Omani children and adolescents with type 1 diabetes mellitus is similar to the World’s reported prevalence, but is less than that reported for Middle Eastern Arab children. To our knowledge, this is the first reported study on the prevalence of celiac disease in Omani children with type 1 diabetes mellitus.

NA

Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS.