Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

PURPOSE: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. METHODS: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. RESULTS: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. CONCLUSIONS: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia.

Impact of eating habits and nutritional status on children with autism spectrum disorder.

OBJECTIVES: Obesity is common among children with Autism Spectrum Disorder (ASD). They suffer more feeding problems than children with normal developmental milestones. Several kinds of diet are recommended for children with ASD. This study determines the frequency of eating disorders and obesity among such children. We investigate the predisposing factors of eating disorders and examine the effects of consumed food on autism scores. METHODS: In this single-centre, cross-sectional study, 46 children with ASD aged between 2 and 10 years were included. Anthropometric measurements were recorded and Brief Autism Mealtime Behavior Inventory (BAMBI), Autism Behavior Checklist (ABC), and Food Frequency Questionnaire (FFQ) forms were filled in by their parents. RESULTS: The rates of being overweight and obese were 10.9% and 28.3%, respectively. Food selectivity was observed in 84.8% of the children, and BAMBI food refusal scores were significantly higher for those aged between 2 and 5 years (p = 0.03). Autism scores and consumption of milk, yoghurt, oily seeds, rice/pasta, and fruits (p < 0.05) were significantly correlated. There were also significant differences between these scores and the frequency of consuming eggs, legumes, and other cereals (p < 0.05). CONCLUSION: Obesity was more common in children with ASD than typically developed children. Despite the high rate of food selectivity, our findings confirmed that food selectivity could be considered independent of obesity. Further, the diet of patients with ASD must include more fruits, yogurt, eggs, legumes, other cereals, less milk, and less rice/pasta.

Perinephric adipose tissue thickness in relation to blood pressure, plasma apelin and C-reactive protein levels in obese adolescents.

BACKGROUND: Visceral adiposity plays an important role in the pathogenesis of obesity related hypertension. Measurement of perinephric adipose tissue (PNAT) thickness has not been studied yet. We aimed to define the relation of PNAT with hypertension, and to investigate its correlations with apelin and C-reactive protein. METHODS: Sixty obese adolescents (33 females, 27 males) with a mean age of 14.0±0.8 years and 29 age-matched lean controls were recruited. Obese subjects were divided as hypertensive (Group 1) and normotensive (Group 2) using 24-hour ambulatory blood pressure monitoring. PNAT was measured using ultrasonography bilaterally. RESULTS: PNAT thickness was found increased by 0.5 mm for each point of increase in body mass index (BMI). Plasma apelin levels were significantly higher in Groups 1 and 2 than those in control group (P<0.001 and P=0.001, respectively). In Group 1 BMI, plasma insulin and cortisol levels were significantly higher. Apelin was positively correlated with BMI and PNAT (P<0.001 for both), and negatively correlated with pubertal stage (ρ=-0.313, P=0.003) and age (ρ=-0.250; P=0.018). CONCLUSIONS: This is the first study showing direct correlation between PNAT and BMI and also between apelin and BMI in obese adolescents. Hypertension in adolescence is related to degree of obesity. While plasma apelin increases in obesity, it decreases with increasing age and pubertal stage.