Rituximab Treatment in Myasthaenia Gravis: Report of two paediatric cases

Myasthaenia gravis (MG) is an autoimmune disease involving the postsynaptic receptors in the neuromuscular junction. The condition is characterised by fatigable weakness of the skeletal muscles and is uncommon in children. Acetylcholinesterase inhibitors and immune-modifying medications are usually considered the mainstay of treatment. However, these medications have to be given on a lifelong basis so that patients remain in remission; furthermore, drug-related side-effects can have a major impact on quality of life. We report two paediatric cases who were treated for MG at the Sultan Qaboos University Hospital, Muscat, Oman, in 2007 and 2008, respectively. Rituximab was eventually administered to each patient after their condition failed to improve despite several years of standard treatment with acetylcholinesterase inhibitors and immune-modifying medications. Overall, rituximab resulted in complete remission in one case and significant clinical improvement in the other case. Keywords: Myasthenia Gravis; Rituximab; Children; Cholinergic Receptors; Case Report; Oman

Diabesity in the Arabian Gulf: Challenges and Opportunities

Diabesity (diabetes associated with obesity) is a major global and local public health concern, which has almost reached an epidemic order of magnitude in the countries of the Arabian Gulf and worldwide. We sought to review the lifestyle trends in this region and to highlight the challenges and opportunities that health care professionals face and attempt to address and correct them. In this regard, we aimed to review the regional data and widely held expert opinions in the Arabian Gulf and provide a thematic review of the size of the problem of diabesity and its risk factors, challenges, and opportunities. We also wished to delineate the barriers to health promotion, disease prevention, and identify social customs contributing to these challenges. Lastly, we wished to address specific problems with particular relevance to the region such as minimal exercise and unhealthy nutrition, concerns during pregnancy, the subject of childhood obesity, the impact of Ramadan fasting, and the expanding role of bariatric surgery. Finally, general recommendations for prevention, evidence-based, and culturally competent management strategies are presented to be considered at the levels of the individual, community, and policymakers

Clinical and Epidemiological Characteristics of Pituitary Tumours using a Web-based Pituitary Tumour Registry in Oman

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.

Clinical and Epidemiological Characteristics of Pituitary Tumours using a Web-based Pituitary Tumour Registry in Oman

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.

Accuracy of ultrasound-guided fine-needle aspiration cytology for diagnosis of carcinoma in patients with multinodular goiter

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

Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure

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