We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range <320 nmol/L) and MRI revealed signal abnormalities of the basal ganglia consistent with manganese deposition. An older brother with the same phenotype died at 18 years, suggesting a potentially lethal, autosomal recessive disease. This disorder is probably caused by a defect of manganese metabolism with the accumulation of manganese in the liver and the basal ganglia similar to the copper accumulation in Wilson disease. In order to assess the genetic basis of this syndrome we investigated two candidate genes: ATP2C2 and ATP2A3 encoding the manganese-transporting calcium-ATPases, SPCA2 and SERCA3, respectively. Genotyping of the patient and the family for microsatellite markers surrounding ATP2C2 and ATP2A3 excluded these genes. The patient was found to be heterozygous for both gene loci. Despite the unknown pathophysiology, we were able to develop a successful treatment regime. Chelation therapy with disodium calcium edetate combined with iron supplementation is the treatment of choice, lowering blood manganese levels significantly and improving clinical symptoms.
Vitamin D alone was efficient in resolving radiological and biochemical disturbances as well as improving z scores for height in a cohort of children with nutritional rickets, which included patients with 25D deficiency as well as calcium deficiency. The results support the hypothesis of the interplay and continuum of 25D deficiency and calcium deficiency in the pathogenesis of rickets.
The risk of vitamin D insufficiency is increased in persons having limited sunlight exposure and dietary vitamin D. Supplementation compliance might be improved with larger doses taken less often, but this may increase the potential for side effects. The objective of the present study was to determine whether a weekly or weekly/monthly regimen of vitamin D supplementation is as effective as daily supplementation without increasing the risk of side effects. Participants were forty-eight healthy adults who were randomly assigned for 3 months to placebo or one of three supplementation regimens: 50 mg/d (2000 IU/d, analysed dose 70 mg/d), 250 mg/week (10 000 IU/week, analysed dose 331 mg/week) or 1250 mg/week (50 000 IU/week, analysed dose 1544 mg/week) for 4 weeks and then 1250 mg/ month for 2 months. Daily and weekly doses were equally effective at increasing serum 25-hydroxyvitamin D, which was significantly greater than baseline in all the supplemented groups after 30 d of treatment. Subjects in the 1250 mg treatment group, who had a BMI .26 kg/m 2 , had a steady increase in urinary Ca in the first 3 weeks of supplementation, and, overall, the relative risk of hypercalciuria was higher in the 1250 mg group than in the placebo group (P¼ 0·01). Although vitamin D supplementation remains a controversial issue, these data document that supplementing with # 250 mg/week (#10 000 IU/week) can improve or maintain vitamin D status in healthy populations without the risk of hypercalciuria, but 24 h urinary Ca excretion should be evaluated in healthy persons receiving vitamin D 3 supplementation in weekly single doses of 1250 mg (50 000 IU). , and certain at-risk populations, such as the elderly or those with dark skin or little sunlight exposure, supplements may be advised (4) . Concerns over the risks of hypervitaminosis D also continue, and the Institute of Medicine report concluded that serum concentrations of 25(OH)D .125 nmol/l come with an increased risk of negative effects (1,4,5) . One potential side effect of excess vitamin D intake is the increased risk of hypercalciuria, but despite this fact, only a few studies have examined 24 h Ca excretion.One of the limitations of strategies to improve nutrient status through the use of vitamin supplements is poor compliance with daily supplementation (6) . For this reason, large doses taken less frequently may offer advantages to some people. To assess the efficacy and safety of such an approach, we evaluated the effects of vitamin D supplementation in daily and weekly doses, and a high weekly dose followed by monthly doses, on circulating 25(OH)D and vitamin D metabolites and on Ca and related indices in healthy adults.
BackgroundEmergency 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.MethodsThe 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).ResultsMean 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).ConclusionThe FTA improved ED effectiveness (WTs and LOS) and quality measures (LWBS rates) whereas mortality rate remained unchanged.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.