Insulin-related metabolism following hematopoietic stem cell transplantation in childhood

Objectives:  To assess insulin-related metabolism following hematopoietic stem cell transplantation (HSCT) in childhood.
Study design:  Thirty-four patients who underwent HSCT were compared with 21 patients with similar diseases who were not transplanted. Median follow-up was 3.6 yr after HSCT. Anthropometric parameters, fasting plasma glucose and insulin levels, hemoglobin A_1c (HbA_1c) and lipid profile were measured and compared.
Results:  HbA_1c was significantly higher (p = 0.001) in the study group. Two (5.8%) patients in the study group developed type 2 diabetes mellitus. Among thalassemic patients, significantly lower insulin resistance indices (p = 0.05) and fasting plasma insulin levels (p = 0.033) were found in the study group compared with the control group.
Conclusions:  Attentive follow-up of insulin-related metabolism following HSCT in children is needed. The significance of the higher HbA1c values in the study group remains to be evaluated in a larger cohort of patients.     

Hand dominancy—A feature affecting sensitivity to pain

Hand dominancy (i.e. handedness) is a factor that should be considered for further characterizing individual variations in sensitivity to pain. The aim of the present study was to examine the contribution of handedness and gender to sensitivity to tonic cold pain in healthy subjects. Participants were 109 healthy volunteers (52 males and 57 females), of whom 65 were right-handed and 44 left-handed. Subjects were exposed to the cold pressor test (1 °C) for both hands while measuring the cold pain threshold, intensity, and tolerance. No significant differences were found in pain threshold or intensity between the right versus the left hands among either the right-handed or the left-handed subjects. However, among the right-handed subjects only, cold pain tolerance was significantly longer in the right hand than in the left hand (32.9 ± 5.1 s vs. 27.0 ± 4.2 s, respectively; p = 0.018). Significant differences were found between males and females in pain threshold, but not in pain intensity or tolerance, either when their right or left hand was tested (p = 0.027 and p = 0.009, respectively). Analyzing pain perception by handedness and gender revealed that the right-handed males were less sensitive to pain in their right versus their left hand, as determined by lower pain intensity (p = 0.031) and longer tolerance (p = 0.047). No significant differences were found among the left-handed males or among the females. The results provide further evidence that handedness is one vital feature that should be considered more often when designing a psychophysical study. This may lead towards improving the translation of laboratory research findings to the clinical setting.     

Association of food allergy with asthma severity and atopic diseases in Jewish and Arab adolescents

Aim: To investigate the prevalence of reported food allergy and its association with atopic diseases and asthma severity among Jewish and Arab adolescents. Subjects and methods: The self‐report questionnaire of the International Study of Asthma and Allergies in Childhood (ISAAC) was administered to adolescents aged 13–14 years from randomly selected junior high schools in Israel. Questions regarding food allergy were added. Results: A total of 11 171 questionnaires were available for analysis. Food allergy was reported by 3.6% of participants: 1.9% milk, 0.6% egg, 0.6% peanut and 0.4% sesame. On multivariate analysis, food allergy was strongly associated with current asthma (OR, 2.5; 95% CI, 1.8–3.3), atopic eczema (OR, 3.2; 95% CI, 2.4–4.3) and allergic rhinitis (OR, 2.4; 95% CI, 1.8–3.1). Arabs were significantly more allergic to peanut (OR, 2.5; 95% CI, 1.5–4.1), egg (OR, 3.5; 95% CI, 2.1–5.9) and sesame (OR, 2.3; 95% CI, 1.2–4.5) than Jews, and less allergic to milk (OR, 0.6; 95% CI, 0.4–0.9). Asthmatic subjects with food allergy had significantly more parameters of severe asthma than those without food allergy (p < 0.001). Conclusions: The prevalence of allergy to specific foods differs between Jews and Arabs. Asthmatic adolescents with food allergy report more severe asthma than those without food allergy.     

Spondyloenchondrodysplasia Due to Mutations in <Emphasis Type="Italic">ACP5</Emphasis>: 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.