A case of a mild Wolfram Syndrome with concomitant ATP7B mutation.

BACKGROUND: Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein. PATIENTS AND METHODS: We observed a WS 10-years old female subject, with Type 1 diabetes-mellitus (DM), that had compound heterozygous WSF1 mutations but without other symptoms generally observed in WS subjects, such as optic atrophy or neurodegeneration. RESULTS: Decreased copper, ceruloplasmin, and transferrin levels, pointing to a copper deficiency, were associated with a new c.18703A>G mutation in the ATP7B gene, while lower calcium levels were associated with WSF1 mutations. An omega-3 fatty acids therapy was administrated to the subject in the attempt to ameliorate diabetes symptoms, restored copper deficiency, and normal calcium levels. CONCLUSIONS: This specific case report provides new insights into the potential interplay of ATP7B mutation in shaping a milder WS clinical picture.

Fast bedside measurement of blood count and C-reactive protein in newborns compared with conventional methods.

BACKGROUND: Abnormal complete blood count (CBC) and high plasma C-reactive protein (CRP) are associated with neonatal infections and could be helpful in the diagnosis of neonatal sepsis and to monitor the antibiotic treatment. OBJECTIVES: The aim of this work is to evaluate and compare the performance of a bedside analyzer for blood count and C-reactive protein (CRP) with a conventional analyzer in a neonatal population. METHODS: 150 capillary or venous blood samples of term and preterm newborns were processed on an ABX-MicrosCRP200 analyzer and on a SysmexXE2100 (conventional hematology analyzer) for CBC, leukocyte differential, reticulocytes, and nucleated red blood cells (NRBC); high-sensitivity CRP (hs-CRP) was performed on a ModularPE. The differences between complete blood count and CRP were regressed against their means and assessed by means of intra-class-correlation. RESULTS: The intra-class-correlation for white blood cell (WBC) was 0.98, for hemoglobin 0.97, for hematocrit 0.96, for mean corpuscular volume 0.95, and for platelet 0.98. ABX-MicrosCRP200 overestimated the WBC (+1.27 x 10(3)/microL; p < 0.001), hematocrit (+1.80%; p < 0.001), and platelet (+13.55 x 10(3)/microL; p < 0.001). The intra-class-correlation for CRP was high (0.97), without systematic difference between the two values (p = 0.64). CONCLUSIONS: The agreement between the two methods was high for both tests. However, the SD of the difference for WBC and platelet could be clinically important in leukopenic or thrombocytopenic newborns.