A lowered salt intake does not compromise iodine status in Cape Town,South Africa,where salt iodization is mandatory

ObjectiveUniversal salt iodization is an effective strategy to optimize population-level iodine. At the same time as salt-lowering initiatives are encouraged globally, there is concern about compromised iodine intakes. This study investigated whether salt intakes at recommended levels resulted in a suboptimal iodine status in a country where salt is the vehicle for iodine fortification.MethodsThree 24-h urine samples were collected for the assessment of urinary sodium and one sample was taken for urinary iodine concentrations (UICs) in a convenience sample of 262 adult men and women in Cape Town, South Africa. Median UIC was compared across categories of sodium excretion equivalent to salt intakes lower than 5, 5 to 9, and greater than or equal to 9 g/d.ResultsThe median UIC was 120 μg/L (interquartile range 75.3–196.3), indicating iodine sufficiency. Less one-fourth (23.2%) of subjects had urinary sodium excretion values within the desirable range (salt <5 g/d), 50.7% had high values (5–9 g/d), and 22.8% had very high values (≥9 g/d). No association between urinary iodine and mean 3 × 24-h urinary sodium concentration was found (r = 0.087, P = 0.198) and UIC status did not differ according to urinary sodium categories (P = 0.804).ConclusionIn a country with mandatory universal salt iodization, consumers with salt intakes within the recommended range (<5 g/d) are iodine replete, and median UIC does not differ across categories of salt intake. This indicates that much of the dietary salt is provided from non-iodinated sources, presumably added to processed foods.     

Radiotherapy for craniopharyngioma

Radiotherapy remains the mainstay of multidisciplinary management of patients with incompletely resected and recurrent craniopharyngioma. Advances in imaging and radiotherapy technology offer new alternatives with the principal aim of improving the accuracy of treatment and reducing the volume of normal brain receiving significant radiation doses. We review the available technologies, their technical advantages and disadvantages and the published clinical results. Fractionated high precision conformal radiotherapy with image guidance remains the gold standard; the results of single fraction treatment are disappointing and hypofractionation should be used with caution as long term results are not available. There is insufficient data on the use of protons to assess the comparative efficacy and toxicity. The precision of treatment delivery needs to be coupled with experienced infrastructure and more intensive quality assurance to ensure best treatment outcome and this should be carried out within multidisciplinary teams experienced in the management of craniopharyngioma. The advantages of the combined skills and expertise of the team members may outweigh the largely undefined clinical gain from novel radiotherapy technologies.     

Biologic pathways associated with relapse in childhood acute lymphoblastic leukemia: a Children's Oncology Group study

Outcome for children with childhood acute lymphoblastic leukemia (ALL) who relapse is poor. To gain insight into the mechanisms of relapse, we analyzed gene-expression profiles in 35 matched diagnosis/relapse pairs as well as 60 uniformly treated children at relapse using the Affymetrix platform. Matched-pair analyses revealed significant differences in the expression of genes involved in cell-cycle regulation, DNA repair, and apoptosis between diagnostic and early-relapse samples. Many of these pathways have been implicated in tumorigenesis previously and are attractive targets for intervention strategies. In contrast, no common pattern of changes was observed among late-relapse pairs. Early-relapse samples were more likely to be similar to their respective diagnostic sample while we noted greater divergence in gene-expression patterns among late-relapse pairs. Comparison of expression profiles of early- versus late-relapse samples indicated that early-relapse clones were characterized by overexpression of biologic pathways associated with cell-cycle regulation. These results suggest that early-relapse results from the emergence of a related clone, characterized by the up-regulation of genes mediating cell proliferation. In contrast, late relapse appears to be mediated by diverse pathways.     

A case of fulminant type 1 diabetes mellitus with exocrine pancreatic insufficiency and enhanced glucagon response to meal ingestion

Non-specific aggression to endocrine alpha and beta cells as well as exocrine pancreas has been suggested in fulminant type 1 diabetes (FT1DM), while its effect on glucagon secretion and exocrine function is unknown. Here, we report a FT1DM case with exocrine pancreatic insufficiency and enhanced glucagon response to meal ingestion.     

Cardiovascular reactivity score for the assessment of dysautonomia in familial Mediterranean fever

Objective The aim of this study was to assess the presence of dysautonomia, as manifested in abnormal cardiovascular reactivity, in patients with familial Mediterranean fever (FMF).Methods Fifty-five consecutive patients with FMF and 23 age- and sex-matched healthy controls were evaluated. Cardiovascular reactivity was studied: (1) using recordings of blood pressure (BP) and heart rate (HR) during 10 min of recumbence and 30 min of head-up tilt test to identify clinical endpoints and (2) during tilt-test, identifying parameters acting as independent predictors of FMF reactivity and enabling computation of a cardiovascular reactivity score (CVRS).Results Clinically, vasovagal reaction, postural tachycardia syndrome, and/or orthostatic hypotension were observed in ten patients (18.1%). Utilizing a derived equation, the group average CVRS in FMF was 5.83±1.78 (healthy group –7.60±5.41) (P=<0.0001). A CVRS of >3.25 was associated with FMF, with 98% sensitivity and 100% specificity.Conclusion A very high percentage of FMF patients exhibit abnormal cardiovascular reactivity which is clinically occult but can be detected on autonomic challenge and application of the CVRS.     

Flecainide and sotalol: a new combination therapy for refractory supraventricular tachycardia in children <1 year of age

OBJECTIVES: The goal of this study was to assess the efficacy and safety of the combination therapy of flecainide and sotalol for the treatment of refractory supraventricular tachycardia (SVT) in children <1 year of age. BACKGROUND: Supraventricular tachycardia in infants can be refractory to single-drug as well as standard combination medical therapy. Radiofrequency ablation (RFA) is the definitive treatment of refractory SVT; however, interventional therapy poses a high risk of morbidity and mortality in this age group. METHODS: A retrospective review was performed identifying infants who required flecainide and sotalol to control refractory SVT. Patient age, previous drug therapy, duration of treatment, flecainide levels and corrected QT intervals were recorded; 24 h Holter monitoring was utilized to gauge efficacy of treatment. Efficacy was defined as suppression of SVT to no more than rare nonsustained episodes or slowing of SVT to a clinically tolerable rate. RESULTS: Ten patients (median age: 29 days, range: 1 to 241 days) failed at least two antiarrhythmic agents including either flecainide or sotalol as single agents before initiating combination therapy. Efficacy was achieved in all patients. The failure rate for therapy was reduced from 100% to 0% (95% confidence interval: 0% to 26%). The median doses used were: flecainide 100 mg/m(2)/day (range: 40 to 150 mg/m(2)/day) and sotalol 175 mg/m(2)/day (range: 100 to 250 mg/m(2)/day). Median duration of therapy was 16 months (range: 5 to 35 months). No proarrhythmia occurred. CONCLUSIONS: The combination of flecainide and sotalol can safely and effectively control refractory SVT and may obviate the need for RFA in children <1 year.     

Assessment of MEF2A mutations in myocardial infarction in Japanese patients.

BACKGROUND: Recently, a mutation in the human MEF2A gene was reported to be responsible for an autosomal dominant form of coronary artery disease, so the purpose of the present study was to assess the significance of MEF2A mutations in Japanese subjects with myocardial infarction (MI). METHODS AND RESULTS: The study population consisted of 589 control subjects recruited from the Suita study and 379 subjects with MI. The promoter, all the exons, and 3'-UTR regions of MEF2A were sequenced in 190 subjects with myocardial infarction. We found 2 amino acid length polymorphisms, a 7-amino acid deletion polymorphism, and a nonsense mutation (R447X) in exon 12. The length and deletion polymorphisms did not confer susceptibility to MI. Although the nonsense mutation was detected in 1 subject with MI, and in none of the control subjects, the impact of this mutation does not appear to be great; the subject had the MI while in his 70 s, had 2 major risk factors, and no family history of ischemic heart disease. CONCLUSION: MEF2A polymorphism does not contribute appreciably to MI in the Japanese population.