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Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G-protein-coupled glutamate receptor critical for synaptic transmission. We previously proposed GRM7 as a candidate disease gene in two families with neurodevelopmental disorders (NDDs). One additional family has been published since. Here, we describe three additional families with GRM7 biallelic variants and deeply characterize the associated clinical neurological and electrophysiological phenotype and molecular data in 11 affected individuals from six unrelated families. Methods: Exome sequencing and family-based rare variant analyses on a cohort of 220 consanguineous families with NDDs revealed three families with GRM7 biallelic variants; three additional families were identified through literature search and collaboration with a clinical molecular laboratory. Results: We compared the observed clinical features and variants of 11 affected individuals from the six unrelated families. Identified novel deleterious variants included two homozygous missense variants (c.2671G>A:p.Glu891Lys and c.1973G>A:p.Arg685Gln) and one homozygous stop-gain variant (c.1975C>T:p.Arg659Ter). Developmental delay, neonatal- or infantile-onset epilepsy, and microcephaly were universal. Three individuals had hypothalamic–pituitary–axis dysfunction without pituitary structural abnormality. Neuroimaging showed cerebral atrophy and hypomyelination in a majority of cases. Two siblings demonstrated progressive loss of myelination by 2 years in both and an acquired microcephaly pattern in one. Five individuals died in early or late childhood. Conclusion: Detailed clinical characterization of 11 individuals from six unrelated families demonstrates that rare biallelic GRM7 pathogenic variants can cause DEEs, microcephaly, hypomyelination, and cerebral atrophy. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

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. Out of a total of 7883 juvenile patients considered in this study, almost 58.1% of females and 43.3% of males in the age group of 1-18 years were found to have low serum 25(OH)D levels (

We report a case of tuberculous meningitis in a 3.5-year-old child who presented with subtle symptoms. The symptoms were somnolence, low-grade fever, and vomiting. The physical exam revealed neck stiffness and depressed sensorioum. Encephalopathy was suspected. Lumbar puncture showed modest pleocytosis. Cerebrospinal fluid smear for acid fast bacilli and later for Mycobacterium tuberculosis were negative. Polymerase chain reaction (PCR) for M. tuberculosis was positive twice, and the patient was diagnosed early in the course of the disease, treated accordingly, and recovered completely. Our laboratory performance consists of 36 tuberculous positive cases; 34 were PCR positive and 246 tuberculosis negative cases; nine were PCR positive, which is consistent with sensitivity of 94.4%, specificity of 96.3%, positive predictive value of 79%, negative predictive value of 99%, and likelihood ratio of 25.5. Tuberculous meningitis was diagnosed by a positive PCR whereas the smear and the Mycobacterium culture came back were negative. PCR has proven to be quite useful in the diagnosis of tuberculous meningitis and was life saving on our child in the case of this patient.

Factors that affect breastfeeding knowledge among participants (nâ =â 344). (DOCX 34 kb)

Factors that affect breastfeeding practices among participants (nâ =â 344). (DOCX 33 kb)

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. Participants were women aged at least 18 years who had at least one child aged 2 years or younger at the time of the study. Breastfeeding knowledge, attitudes, and practices were assessed on the basis of experience with last child. Selected questions were used to develop a scaled scoring system to categorize these aspects as good, fair, or poor. Exclusive breastfeeding is defined as the act of feeding infants only breast milk since birth, without providing water, formula, or other liquid supplements. Results The participants were 344 women. Exclusive breastfeeding for 6 months was reported by only 46 (16.9%, 95% CI 0.10, 0.17, n = 272). 79 (28.7%, n = 275) of the participants were breastfeeding and planning to continue after the child was ≥24 months. Multivariate logistic regression analysis revealed that the following factors were associated with exclusive breastfeeding: mothers with female children (adjusted OR [AOR] 2.42; 95% CI 1.18, 4.97) and better breastfeeding knowledge scores (AOR 1.25; 95% CI 1.04, 1.50). The following factors were associated with less likelihood of exclusively breastfeeding: working mothers (AOR 0.29; 95% CI 0.12, 0.72), living with relatives (AOR 0.21; 95% CI 0.05, 0.81), no past exclusive breastfeeding experience (AOR 0.23; 95% CI 0.09, 0.58) and being offered readymade liquid formula in hospital (AOR 0.33; 95% CI 0.15, 0.72). The most common reason for stopping breastfeeding was insufficient breast milk production (68/89, 76%), and the most common work related reason was inadequate maternity leave (24/89, 15%). Conclusion Although breastfeeding knowledge was generally good, breastfeeding practice was still suboptimal. Modifiable factors found to predict exclusive breastfeeding included breastfeeding knowledge and mothers’ employment status. Electronic supplementary material The online version of this article (10.1186/s13006-018-0165-x) contains supplementary material, which is available to authorized users.

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. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips. A low cortisol concentration, elevated ACTH level and normal electrolytes and aldosterone level all supported the diagnosis of primary glucocorticoid deficiency. Parents were counseled about the diagnosis, management and the lifelong requirement of steroids. FGD is an easily treatable disease when recognized but frequently missed due to a non-specific presentation. FGD is a treatable disease, delayed diagnosis and treatment can lead to significant morbidity.

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. Methods: Patients were recruited prospectively from the pediatric outpatient clinic visits, if they were having blood taken for laboratory investigations other than those related to vitamin D and calcium status. The vitamin D status was compared between 4 age groups (0–0.9 y, 1–1.9 y, 2–7.9 y and 8 -14 y) using the following definitions: deficiency < 25 nmol/l, insufficiency 25–50 nmol/l and sufficiency > 50 nmol/l. Results: A total of 183 children were included in the study. The percentage of females and males in the deficient range was 21% and 16% respectively, while 32% and 46% of females and males respectively were vitamin D sufficient. The highest prevalence of vitamin D deficiency occurred in the 8–14 y old age group with 31.2% being deficient. Conclusions: The study highlights that in an ambulatory pediatric clinic population, peri-pubescent children are most at risk of vitamin D deficiency. This age group is often not considered in the discussion for the need for vitamin D supplementation. Serious consideration should be given to including vitamin D supplementation in a school public health program in the UAE.

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. In summer, the mean serum 25(OH)D concentration for females was 20.9 ± 14.9 nmol/L, whereas that for males was 27.3 ± 15.7 nmol/L. Females scored significantly higher than males on the sun avoidance inventory (SAI), indicating that females avoid sun exposure to a greater extent than males, possibly explaining the lower vitamin D status. A significant negative correlation also existed between SAI and vitamin D status (Pearson's r = −0.33; p < 0.01), but no significant association was evident between vitamin D status and body mass index (Pearson's r = 0.03; p = 0.33) or low dietary intake of vitamin D-fortified foods (Pearson's r = 0.08; p = 0.13). The mean serum 25(OH)D concentration for females tested in winter was 31.3 ± 12.3 nmol/L while in the summer, it was 20.9 ± 14.9 nmol/L. This difference was statistically significant, suggesting that seasonal variation plays an important role in vitamin D status in the United Arab Emirates. Fortification of foods and drinks with vitamin D, supplementation and sensible sun exposure are important steps toward minimizing vitamin D deficiency.

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. This article discusses these and highlights the characteristic features of various forms of rickets and possible pitfalls clinicians should be aware of when confronted with a patient with suspected rickets. In conclusion, the recent advances made in understanding the underlying pathogeneses of the various forms of rickets has helped to delineate the diagnostic tests that assist in the diagnosis and management of the disease in children.

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. meningitis and septicemia) as well as noninvasive disease (community-acquired pneumonia and otitis media). The objective of the current study was to describe the overall epidemiology of both invasive and noninvasive pneumococcal disease in Abu Dhabi over a 5-year period. Design and Setting: Retrospective review of all pediatric (≤ 5 year old) pneumococcal disease admissions to Shaikh Khalifa Medical City (SKMC) and Mafraq Hospital in Abu Dhabi from 1 January 2001 till 31 December 2005.th Methods: We retrieved computerized data from the health information management systems (International Classification of Diseases, 9th Revision (ICD9) diagnosis codes) as well as manual surveillance in the laboratory record of pneumococcal isolates. Results: The incidence of invasive pneumococcal disease was 13.6/100 000 per year (95% CI, 6.5-24.9) and the incidence of noninvasive pneumococcal disease was 172.5/100 000 per year (95% CI, 143.8-205.2). The total incidence rate was 186.0/100 000 per year (95% CI, 156.2-219.9). Conclusion: This epidemiological survey indicates that the incidence rates in the United Arab Emiratea are higher than in Western countries where conjugate pneumococcal vaccine has been introduced. This study is important as it documents the incidence of pneumococcal disease in the era before introduction of the conjugate pneumococcal vaccine and allows for future research to document the impact of a new vaccine considering the geographic variation of pneumococcal serotypes.

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. Seventy two subjects (75%) had a D2 concentration >10 nmol/L while the remaining twenty four subjects had vitamin D2 concentration of less than 10 nmol/L by HPLC. Overall, the Roche Diagnostics method showed a negative bias of −2.59 ± 4.11 nmol/L on the e602 as compared to the HPLC with a concordance rate of 84%. The concordance rate was 91% in samples with D2 of less than 10 nmol/L and 82% in those with D2 concentration >10 nmol/L. The overall correlation had an r value of 0.77. The r value was higher in samples with D2 levels of less than 10 nmol/L, r = 0.96, as compared to those with D2 values of greater than 10 nmol/L, r = 0.74. The observed bias had little impact on clinical decision and therefore is clinically acceptable.

Background: Vitamin D popularly known as sunshine vitamin is both vital and indispensable for human beings. It caters to skeletal as well as non skeletal needs of the body. Evidence is increasing that the vitamin D endocrine system is also linked to obesity. Obesity has been found to be associated with lower levels of serum 25-hydroxyvitamin D. Underlying causes could be less sun exposure in obese people due to their limited mobility and high storage in adipose tissue. Aims and objectives: The study was conducted with the objective of determining prevalence of vitamin D deficiency among postmenopausal women, it’s association with obesity and cardiovascular risk. Materials and methods: A hospital based cross sectional study was conducted in a Tertiary Care Unit of Jammu and Kashmir state, India from July 2012 to December 2012 among 250 post menopausal women between age group of 45 to 70 years. Self designed semi structured questionnaire was used to assess dietary pattern, clothing practices and extent of exposure to sun. BMI was recorded to assess obesity and triglyceride level along with cholesterol was determined to assess cardiovascular risk. Vitamin D level was assessed via investigating 25(OH)D by using Roche electrochemiluminescence. Results: Out of 250 postmenopausal women vitamin D deficiency was prevalent among 80% of study subjects, 14.8% had insufficiency and 5% had optimum vitamin D level. Study subjects between age group of 51 to 55 of Jammu and Kashmir had BMI ranging between 26.7 ± 6.1 and 29.50 ± 6.1 respectively An important finding in this study is that high BMI is significantly associated with low vitamin D level p≤0.02. Conclusion: Vitamin D deficiency is an alarming issue among postmenopausal women in India. Encouraging women to adhere to healthy lifestyles and maintain optimum BMI is indispensable to achieve optimum vitamin D level.

It has been previously documented that alphacalcidol (1α-hydroxyvitamin D 3 ) is inefficient in healing rickets, partly because it results in a suboptimal rise in 1,25-dihydroxyvitamin D (1,25-(OH) 2 D) 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. This study was conducted at our institution from January 2005 till December 2008. We included all patients referred to our clinic with active rickets after a failed course of alphacalcidol. At baseline the median (IQR) for PTH l7.1 (4.5–35.3) pmol/L, 25-OHD 29.0 (18–66.2) nmol/L, 1,25-(OH) 2 D 205 (158.2–311.2) pmol/L and ALP 676 (462.5–1101.7) IU/L. After 3 months treatment with ergocalciferol the concentrations changed markedly with biochemical healing: PTH 4.5 (3.9–7.5), 25-OHD 143.5 (101.5–206.5), 1,25-(OH) 2 D 277 (221.0–572.7), ALP 369 (302.2–438.0). The results confirm the biochemical and physiological basis for using ergocalciferol (or cholecalciferol) in nutritional rickets. Unfortunately these forms are not readily available in many geographic areas. This supply problem together with marketing strategies forces physicians to make an incorrect choice of medication. Treatment with ergocalciferol was either with intramuscular stosstherapy or drops for 3 months. The former ensures compliance and is associated with higher 25-OHD and 1,25-(OH) 2 D concentrations.

Background: Vitamin D deficiency is still prevalent worldwide, including the Middle East. A cohort of patients with nutritional rickets was treated with vitamin D2 (ergocalciferol) alone. After this intervention, patients were followed to document changes in z scores for height after treatment. The secondary aim was to determine the proportion of affected children who had vitamin D deficiency or calcium deficiency. Methods: Z score for height was calculated as the difference between the observed value and the median value, divided by the SD of the population. Z scores were compared in patients before and after treatment. Results: The improvement in z score after treatment was 0.86 ± 0.95. The 95% confidence interval for the mean difference was 1.32–0.40 (t = 3.95, P

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. We compared children who were90 days old with children who were90 days old for the duration of oxygen therapy, maximum oxygen concentration used, duration of stay and duration of intravenous fluids. We conducted a retrospective case review of national children2 years admitted to the pediatric ward at Sheikh Khalifa Medical City with RSV proven bronchiolitis/pneumonia over a 3-month period from 1 September to 30 November 2001. Morbidity for group 1 (birth-90 days) and group 2 (91 days-2 years) was compared by the Mann-Whitney U-test using duration of oxygen therapy, maximum oxygen concentration used, duration of stay and duration of intravenous fluids. Multiple regression for duration of oxygen therapy was tested using the following risk factors as predictors: age group (1 or 2), previous ventilation, bronchopulmonary dysplasia (BPD) and prematurity. A total of 89 patients were admitted during this period. The mean age (SD) of group 1 (n = 28) and group 2 (n = 61) was 46.35 (25.57) days and 275.67 (156.79) days, respectively. The only statistically significant difference using the Mann-Whitney U-test was detected for duration of oxygen between the groups (p = 0.002). Using multiple regression, only age group acted as a predictor for duration of oxygen therapy (p0.001). This implies that the youngest children, group 1, are at a risk for prolonged oxygen therapy. Four patients from group 1 were admitted to the intensive care unit, of which two received ventilatory support. RSV respiratory infections affect infants3 months old in a more severe form than older infants. Even though overall duration of stay was similar for both groups, young infants who in fact did require oxygen had a more protracted and severe illness compared with the older infants. This was evidenced by their longer duration of oxygen and more frequent need to be managed in the intensive care unit.

Background Classic laryngotrachoebronchitis (LTB) is an inflammatory process, with oedema and secretions that involve the entire laryngotracheobronchial tree. The severity of lower airway disease in African children with LTB has previously been documented. The aim of the present study was to determine whether steroids prevent reintubation in African children with classic LTB.

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.e. waiting times [WT] and length of stay [LOS]) and quality measures (i.e. LWBS rates and mortality rates) in non-urgent patients. The secondary objective was to assess if a FTA negatively impacted on urgent patients entering the ED. Methods The study took place in a 500 bed, urban, tertiary care hospital in Abu Dhabi, United Arab Emirates. This was a quasi-experimental, which examined the impact of a FTA on a pre-intervention control group (January 2005) (n = 4,779) versus a post-intervention study group (January 2006) (n = 5,706). Results Mean WTs of Canadian Triage Acuity Scale (CTAS) 4 patients decreased by 22 min (95% CI 21 min to 24 min, P < 0.001). Similarly, mean WTs of CTAS 5 patients decreased by 28 min (95% CI 19 min to 37 min, P < 0.001) post FTA. The mean WTs of urgent patients (CTAS 2/3) were also significantly reduced after the FTA was opened (P < 0.001). The LWBS rate was reduced from 4.7% to 0.7% (95% CI 3.37 to 4.64; P < 0.001). Opening a FTA had no significant impact on mortality rates (P = 0.88). Conclusion The FTA improved ED effectiveness (WTs and LOS) and quality measures (LWBS rates) whereas mortality rate remained unchanged.