Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

The diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sporadic malignant parathyroid tumors, initially diagnosed as adenomas. In one case, the differential diagnosis was complicated by cervical seeding of parathyroid tumor cells. Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. Furthermore, the identification of somatic mutations in the patients‟ parathyroid tumors provided evidence for complete inactivation of the HRPT2 gene, which was consistent with the tumor malignant features. The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. Establishing the diagnosis of hereditary HPT-JT syndrome is relevant for clinical counseling and management of the carriers and their relatives

La dunita como agente de eliminacion de alcalinos en el horno alto

In the blast furnace operation a series of disturbances are produced when the alkalis presence exceeds permissible levels. In this work it is proposed the addition to the furnace charge of a basic rock formed of magnesic silicates in the main, named dunite, as a material which embodies alkalis into the slag, and so its elimination out of the blast furnace. Both nature and alkalis absorption capacity of the dunite are studied

Development of sinter structure and correlation with its magnetic susceptibility for different basicity indices

Two series of sinters have been made in a sintering pilot plant. The starting material consisted of two industrial ore mixtures. Sinter structure was studied using electron microscopy, with special attention being paid to the SFCA (silicoferrite of calcium and aluminium) phases, which confer to the sinter an optimum behaviour in the blast furnace. It was confirmed that these phases become more abundant as the sinter basicity increases. The magnetic susceptibility and mechanical strength of the sinters were determined. It was confirmed that a correlation exists between these parameters and basicity, which makes it possible to select from each series of sinters the optimum basicity sinter corresponding to the start of stabilisation of magnetic susceptibility and the appearance of free lime in their structure

Blast furnace coke quality in relation to petroleum coke addition

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