Galectin-3: A biochemical marker to detect paroxysmal atrial fibrillation?

PURPOSE: Atrial fibrillation (AF) is the most common form of arrhythmia. AF leads to electrical remodelling and fibrosis of the atria; however, the mechanism(s) remain poorly understood. Galectin-3 is a potential mediator of cardiac fibrosis. The present study aimed to examine the relationship between serum galectin-3 levels and paroxysmal AF. METHODS: Forty-six patients with paroxysmal AF and preserved left ventricular systolic function, and 38 age- and gender-matched control subjects, were involved in the study. Serum galectin-3 levels were analyzed with an enzyme-linked immunosorbent assay (ELISA). RESULTS: Serum galectin-3 levels (median 1.38 ng/mL; 1.21 ng/mL-1.87 ng/mL; p< 0.001) were significantly elevated in patients with paroxysmal AF compared with the control. Left atrial diameter was significantly higher in patients with paroxysmal AF (41.2±3.0 mm vs. 39.6±3.3 mm). Left atrial diameter was found to be significantly correlated with serum galectin-3 levels in patients with paroxysmal AF (r= 0.378, p= 0.001). CONCLUSION: Serum galectin-3 levels are significantly elevated and significantly correlated with left atrial diameter in patients with paroxysmal AF.

NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.

Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous marriages. Standard screening in Turkey now covers only three metabolic diseases (phenylketonuria, congenital hypothyroidism, and biotinidase deficiency). Once symptoms have developed, tandem-MS can be used, although this currently covers only up to 40 metabolites. NMR potentially offers a rapid and versatile alternative.We conducted a multi-center clinical study in 14 clinical centers in Turkey. Urine samples from 989 neonates were collected and investigated by using NMR spectroscopy in two different laboratories. The primary objective of the present study was to explore the range of variation of concentration and chemical shifts of specific metabolites without clinically relevant findings that can be detected in the urine of Turkish neonates. The secondary objective was the integration of the results from a healthy reference population of neonates into an NMR database, for routine and completely automatic screening of congenital metabolic diseases.Both targeted and untargeted analyses were performed on the data. Targeted analysis was aimed at 65 metabolites. Limits of detection and quantitation were determined by generating urine spectra, in which known concentrations of the analytes were added electronically as well as by real spiking. Untargeted analysis involved analysis of the whole spectrum for abnormal features, using statistical procedures, including principal component analysis. Outliers were eliminated by model building. Untargeted analysis was used to detect known and unknown compounds and jaundice, proteinuria, and acidemia. The results will be used to establish a database to detect pathological concentration ranges and for routine screening.

A Turkish case with molybdenum cofactor deficiency.

Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222 of MOCS1A. The parents, his brother and his sister who did not have any symptoms were heterozygous for the same mutation. This region was highly conserved in various species. The N-terminal part of MOCS1 a protein is suggested to form the central core of the protein and be composed of an incomplete [(alpha/beta)6] triosephosphate isomerase (TIM) barrel with a lateral opening that is covered by the C-terminal part of the protein. The insertion is located in the loop connecting the fifth beta strand to the sixth alpha helices of the TIM barrel structure. This arginine insertion would induce the conformation change and the lack of the activity.

Familial high factor VIII level in a child with necrotizing fasciitis complicating primary varicella infection.

This article describes an unusual association of familial high plasma factor VIII level and necrotizing fasciitis in a 4-year-old girl with primary varicella infection.

Bone mineral density in children with nocturnal enuresis.

In enuretic children there is a significantly higher incidence of fine and gross motor clumsiness, delayed developmental milestones, slower and poor linear growth, and these patients are shorter than normal children. Skeletal maturation of enuretic children has been determined with bone age in only two studies before, but to our knowledge bone mineral content of enuretic children has not previously been determined by bone mineral density measurement. Bone mineral density was measured by the dual-energy x-ray absorptiometry method in children with nocturnal enuresis and compared with that of a control group to detect whether there were any delay in bone development and any decrease in bone mass. Thirty enuretic children were compared with a control group of 40 healthy children with respect to body height and weight measurements, daily calcium intake, serum calcium, phosphorus and ALP levels, chronological and bone ages, and bone mineral density measurements. Of the parameters compared, bone age was significantly retarded, and bone mineral density was significantly reduced in children with enuresis (8.3 +/- 1.9 vs 9.7 +/- 2.3 years; p = 0.01, and 0.5476 +/- 0.07 vs 0.6077 +/- 0.05 g/cm2; p = 0.001, respectively). Chronological ages demonstrated a significant correlation with the bone ages in both the study and control groups (r = 0.852, p < 0.001, and r = 0.844, p < 0.001, respectively). However, the mean chronological age was significantly greater than the mean bone age in the study group (p < 0.001), whereas the mean chronological age was not significantly different from the mean bone age in the control group (p = 0.514). To clarify the exact mechanism responsible for these manifestations of skeletal maturation retardation, the relationship between the maturational delay of the central nervous system connections or the effect of any perinatal insult and the retardation in skeletal maturation remains to be determined.

Evaluation of bone mineral density in chronic glue sniffers.

Although acute and chronic toxic effects of inhalant (glue) abuse have been well demonstrated on many organ systems, the effects on the skeletal system and bone mineral content of young people with this addiction have, to our knowledge, not yet been investigated by bone mineral density measurement. In the present study bone mineral density was measured by the dual-energy X-ray absorptiometry method in 25 children and adolescents with inhalant abuse and compared with that of a control group (n=30) to detect whether there was any delay in bone development or any decrease in bone mass. Chronological age, height and weight, serum calcium, phosphorus and alkaline phosphatase levels of the study group were not significantly different from those of the control group (p>0.05), whereas bone mineral density was significantly reduced in the study group (p=0.001). Teenagers with glue vapor abuse may carry an increased risk of future fracture even though the exact mechanism(s) responsible for the toxicitiy of glue vapor on bone metabolism remains to be determined. To ascertain the exact component of glue responsible for bone demineralisation may be of value in proposing a change in the composition of the glue. Education and/or rehabilitation programs currently have the greatest importance in preventing and overcoming the harmful effects of this public health problem which is so common in young children and adolescents.