ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.

The most common cause of thrombocytopenia in children is immune thrombocytopenia. Nevertheless, some atypical cases should evoke the hypothesis of genetic thrombocytopenia. Indeed, in the past years, 30 new genes had been described in the field of inherited thrombocytopenia. We report a series of 11 cases of a newly diagnosed entity: ACTN1-related macrothrombocytopenia. Mutations in the gene ACTN1 cause mild macrothrombocytopenia characterized by elevated mean platelet volume and elevated immature platelet fraction, and low bleeding tendency. Its transmission is autosomal dominant. Molecular diagnosis is made by sequencing the ACTN1 gene. Its potential role in hematological malignancy predisposition remains unclear and should be clarified. CONCLUSION: We identified 11 patients with ACTN1-related macrothrombocytopenia diagnosed through pediatric probands. The aim was to underline the specificities of this entity, especially in children, and bring it to the knowledge of pediatricians.

Recent Progress in Transition Metal Dichalcogenides for Electrochemical Biomolecular Detection.

Advances in the field of nanobiotechnology are largely due to discoveries in the field of materials. Recent developments in the field of electrochemical biosensors based on transition metal nanomaterials as transducer elements have been beneficial as they possess various functionalities that increase surface area and provide well-defined active sites to accommodate elements for rapid detection of biomolecules. In recent years, transition metal dichalcogenides (TMDs) have become the focus of interest in various applications due to their considerable physical, chemical, electronic, and optical properties. It is worth noting that their unique properties can be modulated by defect engineering and morphology control. The resulting multifunctional TMD surfaces have been explored as potential capture probes for the rapid and selective detection of biomolecules. In this review, our primary focus is to delve into the synthesis, properties, design, and development of electrochemical biosensors that are based on transition metal dichalcogenides (TMDs) for the detection of biomolecules. We aim to explore the potential of TMD-based electrochemical biosensors, identify the challenges that need to be overcome, and highlight the opportunities for further future development.

Immunological manifestations in type I diabetic children.

In the past decade a number of studies suggested that type 1 diabetes mellitus is an oxidative stress influenced disease. Paraoxonase 1 enzyme plays a crucial role in antiatherogenic-antioxidant circle. The aim of our study was to examine the possible differences in paraoxonase 1 enzymatic activities in diabetic children associated other autoimmune diseases versus a control group. Another objective of the study was to determine if there is any difference according to the gender in paraoxonase 1 activities (arylesterase and paraoxonase activities). Paraoxonase 1 activities were determined in 51 diabetic children and 36 healthy controls. In diabetic children we determined also the C-peptide level. The paraoxonase 1 arylesterase activity was lower in diabetic females compared with diabetic males. The level of C-peptide is in an inverse correlation with the years of the disease. The paraoxonase activities have a correlation with the level of insulin antibodies in type I diabetic children. Our data suggest that paraoxonase enzymatic pattern may be different in these two activities. PON1 arylesterase activity may exhibit a tendency to low levels in women in comparison to men. The C-peptide level is a valuable tool in assessing the restant beta cell function.

Paraoxonase-1 activities in children and adolescents with type 1 diabetes mellitus.

BACKGROUND: Paraoxonase-1 is an HDL-associated esterase that acts as an anti-atherogenic agent by protecting LDL from oxidation. This study investigates paraoxonase-1 activities in children and adolescents with type 1 diabetes mellitus and possible associations with other biochemical markers. PATIENTS AND METHODS: The study enrolled 82 children and adolescents with type 1 diabetes mellitus and 41 controls with similar age and gender distribution. Serum paraoxonase-1 arylesterase and salt-stimulated paraoxonase activities were assessed by measuring the rates of phenyl acetate and paraoxon hydrolysis, respectively; paraoxonase-1 lactonase activity and oxidized LDL were assessed by a pH-sensitive colorimetric assay and ELISA, respectively. Glycated haemoglobin HbA1c and lipid profile were assayed with an immunoturbidimetric method and commercially available kits, respectively. RESULTS: We found lower paraoxonase-1 activities in diabetics when compared to controls. The decrease was statistically significant only for the lactonase activity, the difference being higher when referring to the subgroup with poor glycaemic control. The lactonase activity/HDL ratio was also lower in diabetics vs. controls, but without statistical significance. Both lactonase and arylesterase activities were negatively correlated with HbA1c in diabetics, but only the latter was statistically significant (ρ = -0.21, P = 0.055; ρ = -0.24, P = 0.03, respectively). A correlation coefficient of ρ = 0.196 (P = 0.078) was found between oxidized LDL and HbA1c. CONCLUSION: All paraoxonase-1 activities were lower in diabetic children and adolescents, but only the decrease in the lactonase activity was statistically significant. Although lipid profile and glycaemic control were altered in diabetics, no differences were observed between groups regarding oxidized LDL level.

A comparison of augmented low-Dye taping and ankle bracing on lower limb muscle activity during walking in adults with flat-arched foot posture.

OBJECTIVE: To compare the effect of taping and bracing on lower limb muscle activity during gait. DESIGN: Cross-sectional laboratory study. METHODS: Twenty-seven asymptomatic adults with flat-arched foot posture were recruited to this study. They walked over-ground under three randomly allocated conditions: (i) barefoot; (ii) augmented low-Dye taping; (iii) replaceable ankle brace. Electromyographic (EMG) activity from tibialis posterior, tibialis anterior, peroneus longus and medial gastrocnemius was measured for each condition. Peak EMG amplitude and time of peak EMG amplitude were assessed from stance phase data. A series of one-way repeated measure analysis of variance followed by Bonferroni post hoc tests were undertaken (α=0.05). RESULTS: Tibialis posterior peak EMG amplitude decreased by 22% and 33% with bracing and taping (respectively), compared to barefoot. Peak amplitude was also decreased for peroneus longus by 34% and 30% and for tibialis anterior by 19% and 13% with bracing and taping (respectively), compared to barefoot. Small significant changes in time of peak EMG amplitude were found for tibialis posterior and tibialis anterior with taping and bracing compared to barefoot. The effect of taping and bracing was only different for tibialis posterior peak EMG amplitude, with tape producing a 15% reduction compared to bracing. CONCLUSION: The augmented low-Dye tape and replaceable ankle brace used in this study could be useful in managing overuse and dysfunction of selected leg muscles, particularly tibialis posterior, by reducing their level of activation during walking.