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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.

Background: Current guidelines for screening glucose dysregulation (GD) in patients with transfusion-dependent thalassemia (TDT) recommend an annual 2-hour oral glucose tolerance test (OGTT) starting at the age of 10 years., Objective: Assessment of adherence to OGTT screening in patients with TDT., Methods: A questionnaire was distributed to 18 Thalassemia Centers in 10 different countries, targeting factors influencing adherence to annual OGTT screening in specialized multidisciplinary pediatric and adult TDT units and identifying strategies to improve adherence to OGTT in TDT patients., Results: The mean reported percentage of all types of GD across 16 of the 18 centers at the last OGTT assessment was 32.0%, while the mean percentage for thalassemia-related diabetes mellitus (Th-RDM) was 12.2 ± 9.7% (range: 0%-41%; median: 13.2 %) in all participating centers. Notably, a high percentage of suboptimal or poor adherence to annual OGTT screening (mean 41.3%; range 10-90%) was reported by 17/18 centers. Poor adherence to annual OGTT among eligible patients was multifactorial and related to both patients and the healthcare system barriers. The most commonly suggested actions by hematologists and endocrinologists for improving the adherence to OGTT were flexibility in timing, easy approach to test location, improved collaboration among team members, and persistent reminding., Conclusions: Young adult patients with TDT are at high risk for developing GD and Th-RDM. Thus, annual screening with a 2-hour OGTT is recommended. Nevertheless, several patient barriers are associated with low adherence to annual OGTT. It is desirable to develop intensive initiatives to improve the screening rate for GD, while studies are warranted to update the current guidelines in TDT patients with low-risk factors for GD and for countries with low-resource settings., Competing Interests: Competing interests: The authors declare no conflict of Interest.

Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment., Methods: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity. Data were obtained at the time of patient diagnosis and during leptin-replacement naïve follow-up visits as permitted by available medical records., Results: Data from 43 patients with CGL (37 females, 86%) were collected from centers located in eight countries. The mean (median, range) age at diagnosis was 5.1 (1.0, at birth-37) years. Genetic analysis of the overall cohort showed that CGL1 (n = 14, 33%) and CGL2 (n = 18, 42%) were the predominant CGL subtypes followed by CGL4 (n = 10, 23%); a genetic diagnosis was unavailable for one patient (2%). There was a high prevalence of parental consanguinity (93%) and family history (67%) of lipodystrophy, with 64% (n = 25/39) and 51% (n = 20/39) of patients presenting with acromegaloid features and acanthosis nigricans, respectively. Eighty-one percent (n = 35/43) of patients had at least one organ abnormality; the most frequently affected organs were the liver (70%, n = 30/43), the cardiovascular system (37%, n = 16/43) and the spleen (33%, n = 14/43). Thirteen out of 28 (46%) patients had HbA1c > 5.7% and 20/33 (61%) had triglyceride levels > 2.26 mmol/L (200 mg/dl). Generally, patients diagnosed in adolescence or later had a greater severity of metabolic disease versus those diagnosed during childhood; however, metabolic and organ system abnormalities were observed in a subset of patients diagnosed before or at 1 year of age., Conclusions: This analysis suggests that in addition to the early onset of fat loss, family history and high consanguinity enable the identification of young patients with CGL in the MENA region. In patients with CGL who have not received lipodystrophy-specific treatment, severe metabolic disease and organ abnormalities can develop by late childhood and worsen with age., (© 2024. The Author(s).)

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH. Therefore, in the interests of both economics and preservation of life, disease prevention via genetic screening and counselling is rapidly becoming a key element in the overall management of HoFH. Guidelines are available to assist diagnosis and treatment of HoFH; however, while advancements have been made in the management of the disease, there has been little systematic attention paid to prevention. Additionally, the Middle East/North Africa (MENA) region has a higher prevalence of HoFH than most other regions - chiefly due to consanguinity. This has led to the establishment of regional lipid clinics and awareness programs that have thrown education and awareness of HoFH into sharp focus. Incorporation of principles of prevention, education, awareness, and data from real-world use of existing therapeutics will significantly enhance the effectiveness of future guidelines for the management of HoFH, particularly in the MENA region., Competing Interests: Declaration of competing interest Dr Abdullah Al-Ashwal has received honoraria for speaking and advisory board engagements from Amryt. Dr Afaf Alsagheir has received honoraria for speaking and advisory board engagements from Amryt, Merck, Nono Nordisk, Biomarin and Kyowa Kirin. Dr Mohammed Al Dubayee has received honoraria for speaking and advisory board engagements from Amryt and Novo Nordisk. Dr Mutaz Al-Khnifsawi has received honoraria for speaking and advisory board engagements from Amryt. Dr Ahmed Al-Sarraf has no conflicts to declare. Dr Zuhier Awan has received honoraria for speaking and advisory board engagements from Amryt and Amgen. Dr Tawfeg Ben-Omran has no conflicts to declare. Dr Saif Al-Yaarubi has received honoraria for speaking and advisory board engagements from Amryt, Merck, Novo Nordisk, and Kyowa Kirin. Dr Angham Almutair has no conflicts to declare. Dr Abdelhadi Habeb has received honoraria for speaking and advisory board engagements from Amryt and Kyowa Kirin. Dr Faouzi Maatouk has no conflicts to declare. Dr Manal Alshareef has no conflicts to declare. Dr Naji Kholaif has received honoraria for speaking and advisory board engagements from Amryt, Novartis and Amgen. Prof Dirk Blom reports research grants from Amryt, Amgen, AstraZeneca, Sanofi, and Regeneron; lecture fees and personal fees from Amryt, Amgen, Sanofi-Aventis, Servier and Novartis; and has participated in advisory boards for Amryt (Chair of the LOWER study steering committee) and Servier., (Copyright © 2023. Published by Elsevier Inc.)

Growth impairment is a known complication of sickle cell disease (SCD). Few studies explored the potential effects of hydroxyurea (HU) on growth in children with SCD in relation to HU dose and response. This is a prospective study conducted at Sultan Qaboos University Hospital, Oman, and included 91 SCD patients with age below 16 years when started on HU, aiming to explore the potential effect/s of HU on growth parameters of older children with SCD in relation to their clinical improvement and the dose required for this improvement. Weight, height, and body mass index (BMI) were collected at baseline, 6 and 18 months after initiation. Anthropometric data were compared to WHO standards. Initial height and BMI Z scores (HAZ and WAZ) were lower compared to WHO norms. HAZ and WAZ did not change significantly after 6 and 18 months on HU therapy. However, BMI Z-scores improved significantly after 6 and 18 months of follow-up (p value 0.044 and 0.028 respectively). No significant changes were observed in WAZ or HAZ among patients on low dose versus those on high dose. BMI Z score improved significantly after 18 months of low dose group (p = 0.014) but did not change in those on high dose HU. In conclusion, HU therapy did not adversely affect weight and height growth in older children with SCD. BMI Z scores improved at 18 months in patients on low dose but not in those on high dose (p = 0.014).

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF., Methods: A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021). We compared the child (self) and parent (proxy) reports using PEDQoL v3.0 disease specific questionnaire during lockdown and non-lockdown periods, and assessed correlations with lifestyle changes using regression and gap analyses., Results: A total of 998 reports from 499 children with T1D aged 8 to 18 years (study = 276, control = 223), and their parents during RF in lockdown and non-lockdown periods. Fathers were more involved in their children's care during lockdown ( P  = .019). Patients had better compliance with treatment ( P  = .002), a reversed sleep pattern ( P  = .033), increased food intake ( P  ⩽ .001), and less exercise ( P  < .001). Children and parents perceived better QoL during lockdown ( P  ⩽.001) with no differences between their reports in "Diabetes Symptoms", "Treatment Adherence," and "Communication" domains. Self and proxy reports were different in all domains during non-lockdown ( P  = <.001-.009). In gap analysis, although not statistically significant, the gap was approximated between children's and parents' perceptions in all domains during lockdown., Conclusion: COVID-19 lockdown had a positive impact on QoL of children living with T1D during RF, possibly due to lifestyle changes and superior psychosocial family dynamics., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges to the already complex management. We report a term neonate who developed symptomatic, non-ketotic hypoglycemia with a blood glucose (BG) level of 1.9 mmol/L at 21-hours of life. A critical sample at that time showed high serum insulin and C-peptide levels confirming the diagnosis of CHI. Tandem mass spectrometry done at the same time was suggestive of MSUD which was confirmed by high performance liquid chromatography. The diagnosis of both conditions was subsequently confirmed by molecular genetic testing. His hypoglycemia was managed with high glucose infusion with medical therapy for CHI and branched chain amino acids (BCAA) restricted medical formula. At the age of four months, a near-total pancreatectomy was done, due to the failure of conventional therapy. Throughout his complicated course, he required meticulous monitoring of his BG and modified plasma amino acid profile aiming to maintain the BG at ≥3.9 mmol/L and levels of the three BCAAs at the disease therapeutic targets for his age. The patient is currently 29 months old and has normal growth and development. This patient is perhaps the only known case of the co-occurrence of CHI with MSUD. Both hypoglycemia and leucine encephalopathy can result in death or permanent neurological damage. The management of CHI and MSUD in combination is very challenging.

Sleep is an imperative physiological aspect that plays a vital role in maintaining hormonal and humeral functions of the body and hence a healthy life. Circadian rhythms are daily oscillations in human activities and physiology that prepare human beings to better react to and anticipate challenges in the surrounding environment, which are a consequence of diurnal changes of day and night. The sleep/wake cycle is one of the most prominent manifestations of the circadian rhythm and communicates tightly with the immune system with daily oscillation of immunity. Sleep deprivation is now recognized as a common condition inherent to modern society, and it is detrimental to certain body functions, particularly immune function. The aim of this review is to explore the role of sleep in maintaining a healthy immune system during the COVID-19 pandemic. The review discusses sleep-regulatory substances that are linked to host defense mechanisms such as interleukin-1β, interleukin-6, tumor necrosis factor alpha, and interferon gamma. Cytokine levels also fluctuate with sleep/wake homeostasis and our review explores the relationship between sleep and cytokines and proposed therapeutics. The review will also cover sleep and immune response in children, adolescents, and healthcare workers, and finally it will touch on the effect of obstructive sleep apnea on immune response and the severity of COVID-19., (The OMJ is Published Bimonthly and Copyrighted 2023 by the OMSB.)

Objectives: Identification of the high risk alleles, genotypes and haplotypes of the human leukocyte antigens (HLA) in different populations is beneficial for understanding their roles in type 1 diabetes (T1D) pathogenesis and intervention practices. This study aimed to identify T1D-associated HLA gene alleles in the Omani population., Methods: The present case-control study included 73 diabetic seropositive children (mean age 9.08 ± 3.27 years) attending the paediatric clinic at Sultan Qaboos University Hospital in Muscat, Oman, and 110 healthy controls. HLA-A , -B , -C , -DRB1 and -DQB1 genes were genotyped using a sequence-specific primer polymerase chain reaction (SSP-PCR)., Results: Two HLA class I alleles ( B*08 , B*58 ) and three class II alleles ( DQB1*02 , DRB1*03 and DRB1*04 ) were associated with T1D susceptibility, while one class I ( B*51 ) and three class II ( DQB1*05 , DQB1*06 and DRB1*16 ) alleles were associated with T1D protection. HLA-DRB1*03 and DQB1*02 alleles showed the strongest risk association among all alleles. Six DRB1 residues (E 9 , S 11 , S 13 , Y 30 , V 70 and K 71 ) were significantly associated with T1D susceptibility. Heterozygous genotypes, HLA-DRB1*03 / *04 and DQB1*02 / *03 were significantly associated with T1D susceptibility ( P <0.0001, odds ratio [OR] = 63.21 and P = 0.02, OR = 3.63, respectively). Furthermore, a significant combined action of DRB1*03 - DQB1*02 haplotype in T1D risk ( P = 0.000176, OR = 15) and DRB1*16 - DQB1*05 haplotype in protection ( P = 0.0312, OR = 0.48) was detected., Conclusion: Known HLA class II gene alleles are associated with T1D in Omani children., Competing Interests: CONFLICT OF INTEREST The authors declare no conflict of interest., (© Copyright 2023, Sultan Qaboos University Medical Journal, All Rights Reserved.)

Background: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clinical manifestations, outcome, and an observed new association of sleep-disordered breathing (SDB) among children with Sanjad Sakati syndrome., Methods: Clinical and routine laboratory data of SSS cases attending Sultan Qaboos University Hospital, Oman, were collected from the electronic patient records or through direct clinic interviews. In-lab polysomnography (PSG) and echocardiography were carried out for all the cases. SDB diagnosis was based on the guidelines of the American Academy of Sleep Medicine., Results: Of 12 patients with SSS, 5 males (42%), all of them (100%) had obstructive sleep apnea (OSA) and 4 of them (33%) had additional significant central apnea and sleep-related hypoventilation. Eight patients (67%) had severe SDB with mean apnea-hypopnea index (AHI) of 26.5 events/h. Age at time of diagnosis with SDB ranged from 2 to 17 years with mean of 8.9 [Formula: see text] Two patients had severe pulmonary hypertension as a complication of severe SDB and died from type 2 respiratory failure., Conclusions: Sleep-disordered breathing is prevalent among children with SSS, especially OSA. This is the first study to report SDB in a large cohort of patients with this extremely rare syndrome. The study results encourage the importance of screening affected patients with SSS for sleep-disordered breathing early before developing severe morbidities such as pulmonary hypertension that further compromise their quality of life., (© 2021. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Familial hypertriglyceridemia (F-HTG) is an autosomal disorder that causes severe elevation of serum triglyceride levels. It is caused by genetic alterations in LPL , APOC2 , APOA5 , LMF1 , and GPIHBP1 genes. The mutation spectrum of F-HTG in Arabic populations is limited. Here, we report the genetic spectrum of six families of F-HTG of Arab ancestry in Oman. Methods: six Omani families affected with triglyceride levels >11.2 mmol/L were included in this study. Ampli-Seq sequencing of the selected gene panels was performed. Whole-exome sequencing and copy number variant analysis were also performed in cases with negative exome results. Three novel pathogenic missense variants in the LPL gene were identified, p.M328T, p.H229L, and p.S286G, along with a novel splice variant c.1322+15T > G. The LPL p.H229L variant existed in double heterozygous mutation with the APOA5 gene p.V153M variant. One family had a homozygous mutation in the LMF1 gene (c.G107A; p.G36D) and a heterozygous mutation in the LPL gene (c.G106A; p.D36N). All affected subjects did not have a serum deficiency of LPL protein. Genetic analysis in one family did not show any pathogenic variants even after whole-exome sequencing. These novel LPL and APOA5 mutations are not reported in other ethnic groups. This suggests that patients with F-HTG in Oman have a founder effect and are genetically unique. This warrants further analysis of patients of F-HTG in the Middle East for preventative and counseling purposes to limit the spread of the disease in a population of high consanguinity., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor FS declared a past co-authorship with the authors KAL, KAR, HAB, FZ., (Copyright © 2022 Al-Waili, Al-Rasadi, Al-Bulushi, Habais, Al-Mujaini, Al-Yaarubi, Rimbert, Zadjali, Khaniabadi, Al-Barwani, Hasary, Al-Dahmani, Al-Badi, Al-Maawali and Zadjali.)

Objective: This study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance., Methods: This cross-sectional, multicenter study was conducted in six centers from three countries (United Arab Emirates, Oman, and Saudi Arabia,) between March 2020 and June 2020. Children and adolescents aged 3-18 years, diagnosed with growth disorders and receiving rhGH through the EasyPod™ device were enrolled. Patients and caregivers were given a pre-set questionnaire that evaluated patient satisfaction, preference for technical and personalized features, and device drawbacks. The results were analyzed using independent measures of analysis of variance to evaluate the association of higher satisfaction with device features and better compliance., Results: A total of 186 patients were enrolled in the study. Of these, 45.7% had GH deficiency. The mean age (±SD) of patients was 11.8 (±2.76) years; 117 (62.90%) were males. Average compliance was 87%. One hundred patients (53.76%) had injection compliance of ≥90%. Amongst these patients, 74%, 68%, and 77% top-scored (5/5) the technical features of hidden needle, skin sensor, and pre-set dosing, respectively, compared to top scores by 39%, 34%, and 51% patients in the <90% compliance group ( p -value <0.05). Similarly, a statistically significant difference was observed between the groups ( p -value <0.05) in the perception of the usefulness of the tracking features such as display of history of injected doses (78% vs. 47.7%), a reminder for medicine remaining (46% vs. 23.3%) and battery power indicator (48% vs. 20.9%). Personal screen messages were associated with higher compliance while the requirement to keep the device in the fridge was reported as the most inconvenient feature by 56% of patients in the higher compliance group as against 39.5% in the lower compliance group ( p -value <0.05). There was no statistically significant difference in the intensity of pain reported in the two compliance groups., Conclusion: Our study showed that there is a statistically significant association between better perception of device features and higher compliance., Competing Interests: This publication received funding from Merck Serono Middle East FZ-LTD. The funder was not involved in the study design, collection, analysis, interpretation of data, the writing of this article, or the decision to submit it for publication. This publication is done via an unrestricted medical writing grant by Merck Serono Middle East FZ-LTD, an affiliate of Merck KGaA, Darmstadt, Germany. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Deeb, Al Yaarubi, Abbas, Al Jubeh, Chaturvedi, Al Hassani, Mutair, Al Masri, Al Sanad, Al Shidhani, Mahmoud, Alherbish and Savage.)

Early control of glycaemia is key to reduce vascular complications in individuals with Type 1 diabetes. Therefore, encouraging children and adolescents with T1DM to take responsibility for controlling glucose levels is an important yet a challenging task. The rapid expansion of continuous glucose monitoring (CGM) systems has allowed for more comprehensive analysis of glycaemia in T1D. Moreover, CGM devices have the ability to calculate rate of change in glucose levels and display the information as trend arrows. In turn, this can help to take evasive actions to return glucose levels to near physiological glycaemia, which can be highly motivating for young people with T1DM. In the absence of standardised, evidence-based guidance, this consensus document, generated by experts from the Arab Society of Paediatric Endocrinology and Diabetes and international advisors, summarises recent literature on the use of trend arrows in young people with T1DM. The use of trend arrows in different CGM systems is reviewed and their clinical significance is highlighted. Adjusting insulin doses according to trend arrows is discussed while also addressing special situations, such as exercise, fasting, nocturnal hypoglycaemia and menstruation. Adequate understanding of trend arrows should facilitate optimisation of glycaemic control in the T1D population.

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., (The OMJ is Published Bimonthly and Copyrighted 2021 by the OMSB.)

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.

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 male-to-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.

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=0.331), reported weight loss (p=0.753), or diabetic ketoacidosis at presentation (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.

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 anti-tissue 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.

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.

Background: Fine-needle aspiration (FNA) is a useful method for evaluating multinodular goiter; however, its role is still controversial. The aim of this study was to assess the utility of ultrasound-guided thyroid FNA in detecting malignancy in patients with multinodular goiter in Oman., Materials and Methods: This was a retrospective study where all patients with multinodular goiter seen at the Sultan Qaboos University Hospital endocrinology clinic in Oman in 2005 were evaluated. The thyroid FNA results were grouped into either malignancy (positive result) or others (negative result). They were compared to those of final histopathological examination in order to calculate the value of the test in diagnosing malignancy. Analyses were evaluated using descriptive statistics., Results: A total of 272 patients were included in the study. The mean age was 39΁13 years with an age range from 5 to 85 years. The majority of the patients were females (n=236; 87%). The results of thyroid FNA revealed that 6% (n=15) of the patients had malignancies while histopathological results showed that the proportion of subjects with malignancies was 18% (n=49). Out of the 15 cases identified to have malignances by thyroid FNA, only 53% (n=8) of the subjects were confirmed to have malignancy by biopsy. Overall, the results of the tests were poor, revealing a sensitivity of 16%, specificity of 97% and a diagnostic accuracy of 82%, with a positive predictive value of 53% and a negative predictive value of 84%., Conclusion: Thyroid FNA is not a useful test in differentiating multinodular goiter from malignancy, as more than 80% of the malignancies go unnoticed.

Sanjad Sakati Syndrome is an Autosomal Recessive disorder found exclusively in people of Arabian origin. It was first reported from the Kingdom of Saudi Arabia in 1988. This is a report of a family with this rare disease in Oman. The syndrome comprises of congenital hypoparathyroidism, severe growth retardation, low IQ and typical facial features. Supportive treatment in the form of vitamin D and growth hormone is often offered to these children.

Adreno-cortical insufficiency in the context of an adrenal mass can be a challenging clinical problem. The two main possibilities are either a benign mass or a malignant pathology. We describe here a patient who was investigated for chronic adreno-cortical insufficiency and was found to have a left adrenal mass that was later confirmed histopathologically to be tuberculous in nature.