A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.

Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship.

Sodium, Potassium and Iodine Intake in an Adult Population of Lithuania.

Hypertension is a leading risk factor for cardiovascular events and death. A reduction in salt intake is among the most cost-effective strategies to reduce blood pressure and the risk of cardiovascular diseases. Increasing potassium lowers blood pressure and is associated with lower cardiovascular risk. Adequate iodine intake is important to prevent iodine deficiency disorders. Salt iodization is a key strategy to prevent such deficiency. In Lithuania, no surveys have been performed to directly assess sodium, potassium and iodine consumption. The aim of the present study was to measure sodium, potassium and iodine intake in a randomly selected adult Lithuanian adult population using 24 h urine collections, and to assess knowledge, attitudes and behavior towards salt consumption. Salt and potassium intakes were estimated in 888 randomly selected participants by 24 h urine sodium and potassium excretion and 679 individuals provided suitable 24 h urine samples for the analysis of iodine excretion. Average salt intake was 10.0 (SD 5.3) g/24 h and average potassium intake was 3.3 (SD 1.3) g/24 h. Only 12.5% of participants consumed less than 5 g/24 h of salt. The median value of urinary iodine concentration (UIC) was 95.5 µg/L. Our study showed that average salt intake is twice as high as the maximum level recommended by the World Health Organization while potassium and iodine intakes in Lithuania are below the recommended levels.