Evaluation of the Premier Hb9210 instrument for HbA1c determination.

Background: Glycated hemoglobin measurements are a valuable tool for long-term blood glucose monitoring and the diagnosis of diabetes. Its widespread use has been made possible due to the development of new analytical methods with improved performances and standardization with reference materials. The aim of the present study was to evaluate the Trinity Biotech Premier Hb9210 analyzer for the measurement of HbA1c.Methods: The precision was assessed using the CLSI EP-15A3 and EP-10A3 protocols. The latter was also used to investigate linearity, carryover, and linear drift. The comparison study was performed between Premier Hb910 and Tosoh HLC-723 G8 through Passing-Bablok regression and the Bland-Altman plot. The Fleiss Kappa index was used to assess the degree of agreement. The interference of Hb variants was investigated using samples with Hb variants S, C, D, E, J, and Seville.Results: Within-run and between-run imprecision fell between 0.37% and 1.16%. No statistically significant nonlinearity, carry-over, and/or drift were observed. The resulting regression line of the Passing-Bablok analysis was y = 0.00 + 1.00x. The Pearson correlation coefficient was 0.997. In the Bland-Altman plot, the relative bias was 0.01%. The overall Fleiss Kappa index was 0.9. No interference from hemoglobin variants was observed.Conclusion: The Premier Hb9210 demonstrated a high degree of automation, reproducibility, good agreement, minimal carry-over effect, and excellent linearity across the wide range of HbA1c levels commonly found in diabetic patients and was not influenced by Hb variants.

Premier Hb9210 can be used as an alternative to monitor glycemic status.Premier Hb9210 is not affected by common hemoglobin variants.Premier Hb9210 can correctly classify diabetic patients.

Hypoparathyroidism after thyroidectomy: A 20-year experience at a children's hospital.

INTRODUCTION: Hypoparathyroidism (HP) is the most common complication of total thyroidectomy and can be an emergency. OBJECTIVES: To describe the prevalence of HP after total thyroidectomy in children under 14 years of age, the variables related to its appearance and its clinical expression. PATIENTS AND METHODS: Retrospective study at a children's hospital in the last 20 years. HP was defined by the need to supplement calcium after the intervention and was considered permanent if it could not be suspended within 12 months. Fisher's statistical method of comparison of proportions. RESULTS: Thirty-nine children and adolescents (26 females) with an age range of 3.67-14.00 years. In 25 patients, the intervention was prophylactic and in 14 it was therapeutic; 14 suffered accidental excision of some parathyroid gland, but none more than two of them; 12 presented HP, of which 3 were permanent; 5 presented clinical symptoms; 1 of them was an emergency. The frequency of HP was 4/4 when 2 parathyroids were dissected, 2/10 when one was dissected, and 6/25 when none were dissected (p = 0.02). In the prophylactic interventions, it was 6/25 compared to 6/14 in the therapeutic ones (p = 0.29). The three cases of permanent HP were in children under 6 years of age, and it did not occur in any older children (p = 0.09). CONCLUSIONS: HP is a common and sometimes serious complication in children after total thyroidectomy. It can occur, and even be permanent, even if the intervention is prophylactic and parathyroid glands remain in situ. Younger age could be a risk factor.

Hypoparathyroidism after thyroidectomy: A 20-year experience at a children's hospital. / Hipoparatiroidismo postiroidectomía: experiencia de 20 años en un hospital infantil.

INTRODUCTION: Hypoparathyroidism (HP) is the most common complication of total thyroidectomy and can be an emergency. OBJECTIVES: To describe the prevalence of HP after total thyroidectomy in children under 14 years of age, the variables related to its appearance and its clinical expression. PATIENTS AND METHODS: Retrospective study at a children's hospital in the last 20 years. HP was defined by the need to supplement calcium after the intervention and was considered permanent if it could not be suspended within 12 months. Fisher's statistical method of comparison of proportions. RESULTS: Thirty-nine children and adolescents (26 females) with an age range of 3.67 to 14.00 years. In 25 patients, the intervention was prophylactic and in 14 it was therapeutic. Fourteen suffered accidental excision of some parathyroid gland, but none more than t2 of them. Twelve presented HP, of which 3 were permanent; 5 presented clinical symptoms; one of them was an emergency. The frequency of HP was 4/4 when 2 parathyroids were dissected, 2/10 when one was dissected, and 6/25 when none were dissected (P=.02). In the prophylactic interventions, it was 6/25 compared to 6/14 in the therapeutic ones (P=.29). The 3 cases of permanent HP were in children under 6 years of age, and it did not occur in any older children (P=.09). CONCLUSIONS: HP is a common and sometimes serious complication in children after total thyroidectomy. It can occur, and even be permanent, even if the intervention is prophylactic and parathyroid glands remain in situ. Younger age could be a risk factor.

Gestante eutiroidea con anticuerpos estimulantes del receptor de tirotropina positivos: manifestación tardía de hipertiroidismo neonatal. A propósito de un caso / Euthyroid pregnant woman with positive thyrotropin receptor-stimulating antibodies: Late manifestation of neonatal hyperthyroidism. About a case

Las enfermedades tiroideas, después de la diabetes mellitus, se encuentran entre los trastornos endocrinos más comunes durante el embarazo, con una incidencia del 5-10%. Es importante su detección y tratamiento precoz ya que puede tener consecuencias negativas tanto para la madre como para el feto. El hipertiroidismo se encuentra en menor frecuencia que el hipotiroidismo durante el embarazo, entre 0,1-1%. Se caracteriza por presentar tirotropina baja con hormonas tiroideas elevadas, siendo la enfermedad de Graves la causa más frecuente (el 85% de los casos). A continuación se expone el caso de un lactante con hipertiroidismo primario de etiología autoinmune, hijo de una madre sin diagnóstico previo de hipertiroidismo durante la gestación (AU)

Thyroid diseases, after diabetes mellitus, are among the most common endocrine disorders during pregnancy, with an incidence of 5-10%. Early detection and treatment is important, as they can have negative consequences for both the mother and the foetus. Hyperthyroidism is less frequent than hypothyroidism during pregnancy, being between 0.1% and 1%. It is characterised by a low thyrotropin with elevated thyroid hormones, with Graves’ disease being the most frequent cause (85% of cases). The following is the case of an infant with primary hyperthyroidism of autoimmune origin, the son of a mother without previous diagnosis of hyperthyroidism during gestation (AU)

Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, the patients affected have a low life quality and a very expensive and continuous treatment. At present, MEN2A is diagnosed by gene sequencing after birth, thus trying to start an early treatment and by reduction of morbidity and mortality. We first evaluated the presence of MEN2A mutation (C634Y) in serum of 25 patients, previously diagnosed by sequencing in peripheral blood leucocytes, using HRM genotyping analysis. In a second step, we used a COLD-PCR approach followed by HRM genotyping analysis for non-invasive prenatal diagnosis of a pregnant woman carrying a fetus with a C634Y mutation. HRM analysis revealed differences in melting curve shapes that correlated with patients diagnosed for MEN2A by gene sequencing analysis with 100% accuracy. Moreover, the pregnant woman carrying the fetus with the C634Y mutation revealed a melting curve shape in agreement with the positive controls in the COLD-PCR study. The mutation was confirmed by sequencing of the COLD-PCR amplification product. In conclusion, we have established a HRM analysis in serum samples as a new primary diagnosis method suitable for the detection of C634Y mutations in MEN2A patients. Simultaneously, we have applied the increase of sensitivity of COLD-PCR assay approach combined with HRM analysis for the non-invasive prenatal diagnosis of C634Y fetal mutations using pregnant women serum.

Hemoglobin Seville [α2 ß2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement by ion-exchange HPLC method.

OBJECTIVES: The aim of the study was to investigate hemoglobin (Hb) species in a 61 year-old male with diabetes mellitus type II and a low value of Hb A(1c). DESIGN AND METHODS: Hb species were analyzed by electrophoresis and chromatography methods. Functional properties were determined by oxygen equilibrium studies. ß-globin gene was amplified by PCR and sequenced. RESULTS AND CONCLUSIONS: A novel clinically silent Hb (Hb Seville), that results in falsely low Hb A(1c) measurement, was detected. This Hb variant presented a single base mutation at codon 81 (C→T) of the ß-globin gene. This case points out the necessity of careful inspection of the chromatograms and the use of additional methods to Hb A(1c) measurement when the presence of aberrant peaks is detected.

Analytical performance evaluation of a particle-enhanced turbidimetric cystatin C assay on the Roche COBAS 6000 analyzer.

OBJECTIVES: Cystatin C is a low molecular protein that has been proposed to estimate the glomerular filtration rate. Here we investigated the performance of the Roche cystatin C assay on the COBAS 6000 analyzer. DESIGN AND METHODS: We studied the imprecision, recovery, limit of detection and quantification, linearity and interferences. For method comparison, split sample aliquots were assayed using the described method and a Siemens cystatin C assay. RESULTS: The assay displayed a low total imprecision and a good linearity over the entire range tested. Bilirubin and triglycerides did not interfere with the assay, and only a haemoglobin concentration higher than 6g/dl interfered with the assay. The assay agreed well with the Siemens assay. CONCLUSION: The Roche cystatin C assay is an acceptable method for determining the cystatin C and the glomerular filtration rate estimate. On a COBAS 6000, the assay improves and simplifies the laboratory's workload.