Rituximab treatment in myasthaenia gravis

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

Neonatal and obstetrical outcomes of pregnancies in systemic lupus erythematosus

Objectives: Systemic lupus erythematous [SLE] is a chronic autoimmune disease that affects women primarily of childbearing age. The objective of this study was to determine the neonatal and maternal outcomes of pregnancies in SLE patients compared to pregnancies in healthy controls

Methods: We conducted a retrospective cohort study in a tertiary care hospital in Oman between January 2007 and December 2013. We analyzed 147 pregnancies and compared 56 [38.0%] pregnancies in women with SLE with 91 [61.9%] pregnancies in healthy control women. Disease activity was determined using the Systemic Lupus Erythematosus Disease Activity Index [SLEDAI]

Results: The mean age of the cohort was 30.0+/-5.0 years ranging from 19 to 44 years old. Patients with SLE were treated with hydroxychloroquine [n = 41; 73.2%], prednisolone [n = 38; 67.8%], and azathioprine [n = 17; 30.3%]. There was no disease activity in 39.2% [n = 22] of patients while 41.0% [n = 23], 12.5% [n = 7], and 7.1% [n = 4] had mild [SLEDAI 1-5], moderate [SLEDAI 6-10], and severe [SLEDAI >/= 11] disease activity, respectively, at onset of pregnancy. Pregnancies in patients with SLE were associated with higher abortions [42.8% vs. 15.3%; p < 0.001], gestational diabetes [28.3% vs. 10.2%; p = 0.004], polyhydramnios [7.1% vs. 0.0%; p = 0.020], previous preterm pregnancies [8.9% vs. 1.0%; p = 0.030], and intrauterine growth retardation [21.4% vs. 0.0%; p < 0.001] when compared to pregnancies in healthy control women. Furthermore, the neonates born to mothers with SLE were more likely to be preterm [28.5% vs. 1.0%; p < 0.001], have a low birth weight [< 2 500 g] [32.1% vs. 1.0%; p < 0.001], and were associated with stillbirth [7.1% vs. 0.0%; p = 0.010] when compared to neonates born to healthy control mothers

Conclusions: Pregnancies in women with SLE were associated with higher neonatal and maternal complications. Therefore, pregnant women with SLE should have their pregnancy accurately planned, monitored, and managed according to a multidisciplinary treatment schedule

Blood culture contaminants in a paediatric population - retrospective study from a tertiary hospital in Oman

Objectives: Most children presenting with febrile illness require a blood culture to determine the causative organism as well as its sensitivity to antibiotics. However, false-positive results lead to unnecessary hospitalisations, prescriptions and tests. This study aimed to evaluate the impact of false-positive blood cultures among a paediatric population at a tertiary hospital in Oman

Methods: This retrospective study included all 225 children <13 years old with positive blood cultures who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between July 2011 and December 2013. Blood cultures were reviewed to determine whether they were true-positive or contaminated

Results: A total of 344 positive blood cultures were recorded during the study period, of which 185 [53.8%] were true-positive and 159 [46.2%] were contaminated. Most true-positive isolates [26.5%] were coagulase-negative Staphylococcus spp. [CONS] followed by Escherichia coli [9.7%], while the majority of contaminated isolates were CONS [67.9%] followed by Streptococcus spp. [6.9%]. Children with contaminated cultures were significantly younger [P <0.001] while those with true-positive cultures required significantly more frequent hospital admissions, longer hospital stays and more frequent antibiotic prescriptions [P <0.001 each]. Chronic illness and mortality was significantly more frequent among those with true-positive cultures [P <0.001 and 0.04, respectively]. While white blood cell and absolute neutrophil counts were significantly higher in truepositive cultures [P <0.001 each], there was no significant difference in C-reactive protein [CRP] level [P = 0.791]

Conclusion: In this population, CRP level was not an adequate marker to differentiate between true- and falsepositive cultures. A dedicated well-trained phlebotomy team for paediatric patients is essential

Growth pattern in children with systemic lupus erythematosus

Objectives: Children with childhood-onset systemic lupus erythematosus [cSLE] enter adulthood with considerable morbidity. Of the recognized morbidities, growth failure is unique to cSLE. The aim of this study was to evaluate the growth pattern in children with cSLE longitudinally and identify possible risk factors

Methods: Serial anthropometric measurements of cSLE patients were obtained over two years and expressed as z-scores. Parental heights were obtained to calculate target height. Parent-adjusted height z-score was calculated as the difference between height z-score and target height. Growth failure was defined as parent-adjusted height z-score < -1.50. Risk factors that might have contributed to growth failure were evaluated including the presence of growth failure at baseline, disease activity, disease duration, and cumulative steroid doses

Results: Twenty-five patients were included in the study. Growth failure was observed in eight patients with an overall incidence of 32.0% [95% confidence interval [CI]: 14-50%]

When comparing the cohort with and without growth failure, the factors that determined growth failure was the pre-existence of growth failure at the time of diagnosis [z-score < -1.95 vs. 0.35; p < 0.001]; higher cumulative steroid dose [15.8 vs. 9.1 g //p - 0.061]; and tendency for longer disease duration [5.4 vs. 3.7 years;/? = 0.240]. However, the severity of disease activity at the time of diagnosis was not a significant contributing factor [12 vs. 14; p = 0.529]

Conclusions: Children with cSLE are at risk of having a negative effect on height including patients with pre-existing growth failure, high cumulative steroid dose, and longer disease duration. However, longitudinal prospective studies are needed to examine damage over time to improve health-related quality of life

Infantile systemic hyalinosis: a case report with a novel mutation

Infantile Systemic Hyalinosis [ISH] [OMIM 236490] is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 [also known as CMG2] gene, which encodes a transmembranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 [c867_945del, p.E289DfsX22]. Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis

Geographical clustering of juvenile onset systemic lupus erythematosus within the Sultanate of Oman

While SLE is found worldwide, there is diversity in clinical presentation of the disease according to geographical variations. The aim of this study is to describe geographical distributions of childhood onset SLE within Oman to identify geographical clustering and to compare the demographic, clinical, and immunological characteristics of this cluster against the rest of Oman. We retrospectively reviewed the hospital charts of 104 consecutive children with childhood onset SLE who were seen in pediatric rheumatology centers in the Sultanate of Oman over a 15- year period between 1995 and 2010. Geographical clustering of childhood onset SLE was identified in Sharqiya region, which constituted 41% [n=43] of all cases in Oman. This cohort of patients had characteristic disease features which consisted of significantly more boys affected with SLE compared to the rest of the country [42% versus 15%; p=0.002]. These children also tended to be younger [10.3 versus 16.5 years; p=0.001], diagnosed at an earlier age [6.4 versus 9.4 years; p<0.001] with a stronger family history of SLE [58% versus 33%; p=0.010]. These children also had increased incidence of mucocutanous changes [81% versus 62%; p=0.036] and decreased hematological abnormalities [30% versus 51%; p=0.036]. We identified geographical clustering of childhood onset SLE to Sharqiya region in Oman which is associated with unique demographical and clinical features. Whether increased prevalence of disease in this region is due to geographical, environmental, ethnic or genetic factors is yet to be determined. However, it is likely to be interplay of known and other unrecognized factors

Extent of subclinical pulmonary involvement in childhood onset systemic lupus erythematosus in the Sultanate of Oman

The aim of this study was to investigate the frequency of pulmonary function abnormalities in clinically asymptomatic children with Systemic Lupus Erythematosus and to determine the relationship of these abnormalities to clinical, laboratory, and immunological parameters as well as to disease activity. Forty-two children with childhood onset Systemic Lupus Erythematosus were included in this study Demographic, clinical, laboratory and immunological parameters, as well as disease activity were assessed. Pulmonary function tests [PFT] were performed routinely to screen for subclinical lung disease. Out of the 42 children, 19% [n=8] had clinical evidence of pulmonary involvement The patients with no clinical evidence of pulmonary involvement [n=34] represent the study cohort From our cohort of patients with no clinical evidence of pulmonary involvement 79% [n=27] had PFT abnormality; including 62% [n=21] had reduced FVC, 71% [n=24] had reduced FEV1, and 67% [n=12] had reduced DLCO Similarly, 56% [n=15] had a restrictive PFT pattern, and 2.6% [n=2] had an obstructive PFT pattern, while 33% [n=7] had an isolated impairment of diffusion capacity. Due to small sample size; it was not possible to find a statistically significant difference between the cohort of asymptomatic SLE patients with abnormal PFT findings [n=27] and those with normal PFT findings [n=7] in terms of clinical, laboratory, immunological or disease activity index score Subclinical lung disease, as demonstrated by abnormal PFT in patients with normal radiographs, may be common but should be interpreted with caution as an early sign of lung disease. Although PFT studies do not correlate well with pulmonary symptoms in patients with childhood onset SLE, they nevertheless provide objective quantification of the type and severity of the functional lesions

Challenges of childhood uveitis

Chronic uveitis is a rare, but potentially sight-threatening disease. The most common cause of chronic non-infectious uveitis is "idiopathic uveitis". However, some systemic diseases are associated with chronic uveitis in children and are discussed. Chronic uveitis merits special consideration in children. The unique differences in children are highlighted with special consideration for the diagnostic and therapeutic challenges encountered in their management. While corticosteroids remain the mainstay of initial therapy, a wide range of immunosuppressive agents have been used with variable success. The role of immonomodulatory agents such as methotrexate, cyclosproin and some of the new biologic agents such as etanecept, infliximab, adalimumab are reviewed. Successful outcomes may be achieved with appropriate immunosuppressant therapy when given early in the disease, although clinical trials are required to define the true efficacy of this strategy