Publications by authors named "Jaishen Rajah"

Article Synopsis
  • Defects in the GRM7 gene, which encodes the metabotropic glutamate receptor 7, are linked to severe neurological issues in individuals with developmental and epileptic encephalopathy (DEE) across six unrelated families.
  • Genetic analyses, including exome sequencing, identified novel harmful variants in the GRM7 gene, leading to common symptoms like developmental delay, early-onset epilepsy, and microcephaly among affected individuals.
  • Despite variances in clinical presentation, most showed signs of cerebral atrophy and hypomyelination on neuroimaging, with a significant mortality rate observed in early childhood.
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Background: The World Health Organization recommends continued breastfeeding up to 2 years of age or beyond. This study assessed breastfeeding knowledge, attitudes, and practices among women residing on the island of Abu Dhabi and identified associated factors.

Methods: We conducted a cross-sectional study using a self-administered questionnaire among mothers visiting primary healthcare clinics in Abu Dhabi between November 2014 and 2015.

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Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient.

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Vitamin D deficiency is a clinical problem and recently we have shown that 82.5% of our entire study cohort had inadequate serum 25(OH)D levels. In this study, we analysed serum 25(OH)D levels of juvenile patients admitted to the Burjeel Hospital of VPS Health care in Abu Dhabi, United Arab Emirates (UAE) from October 2012 to September 2014.

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This study compared two methods of assaying the 25-hydroxylated metabolites of cholecalciferol (vitamin D3) and ergocalciferol (vitamin D2). A fully automated electrochemiluminescence assay from Roche Diagnostics and an HPLC based method from Chromsystems were used to measure vitamin D levels in surplus sera from 96 individuals, where the majority has the D2 form of the vitamin. Deming regression, concordance rate, correlation and Altman Bland agreement were performed.

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Background: Maintaining a normal vitamin D status is important for both skeletal and extra-skeletal health. Recent data show that vitamin D deficiency is endemic in women residing in the Arabian Gulf and is common in pregnant women and their newborns. The purpose of this study was to establish the vitamin D and calcium status of children in an urban ambulatory pediatric clinic in Abu Dhabi to determine for the prevalence of vitamin D deficiency in this cohort.

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This study offers evidence that vitamin D deficiency could be a major public health burden among young Emirati adults, mostly because of sun deprivation in a sun-blessed country. This study included a random sample of 138 females and 70 males tested for serum 25-hydroxyvitamin D [25(OH)D] status. To further evaluate the predictors of vitamin D status in this population, the study examined diet, obesity and sun exposure.

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Rickets remains a common problem among infants and children in many countries worldwide. Although the classical presentation associated with bone abnormalities is well known, paediatricians need to be aware of atypical presentations, especially in the first 6 months of life. Furthermore, although vitamin D deficiency rickets remains the commonest form of rickets in most countries, health care providers need to be aware of other possible causes and their typical clinical and biochemical presentations.

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Background And Objective: Streptococcus pneumoniae is a major cause of mortality and morbidity in both developing and industrialized countries, especially among young children and in both immunocompromised and immunocompetent individuals. It is implicated in both invasive (e.g.

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It has been previously documented that alphacalcidol (1alpha-hydroxyvitamin D3) is inefficient in healing rickets, partly because it results in a suboptimal rise in 1,25-dihydroxyvitamin D (1,25-(OH)2D) and partly because it fails to replenish the store of 25-hydroxyvitamin D (25-OHD). However, very few studies have actually documented this outcome. The aim was to document biochemically the response to alphacalcidol and subsequently the change in response to ergocalciferol.

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Background: Emergency department (ED) overcrowding is a ubiquitous problem with serious public health implications. The fast track area is a novel method which aims to reduce waiting time, patient dissatisfaction and morbidity. |The study objective was to determine the impact of a fast track area (FTA) on both effectiveness measures (i.

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Background: Vitamin D deficiency is still prevalent worldwide, including the Middle East. A cohort of patients with nutritional rickets was treated with vitamin D(2) (ergocalciferol) alone. After this intervention, patients were followed to document changes in z scores for height after treatment.

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The seroprevalence of hepatitis A in Emirati children less than 12 years was 20.1% (95% CI 16.4-24.

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Respiratory syncytial virus (RSV) respiratory infections are very common during infancy and account for the majority of hospitalizations during the fall and winter seasons. Patients vary in the severity of their illnesses, with most hospitalized patients needing oxygen and intravenous fluids. The objective of this study was to assess in hospitalized patients the severity of the disease in relation to age.

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