Search

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.

Abstract 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.

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. [ABSTRACT FROM AUTHOR]

Abstract: It has been previously documented that alphacalcidol (1α-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. 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)2D 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)2D 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)2D concentrations. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]