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Combined immune deficiency due to athymia in patients with complete DiGeorge syndrome can be corrected by allogeneic thymus transplantation. Hypoparathyroidism is a frequent concomitant clinical problem in these patients, which persists after thymus transplantation. Cotransplantation of allogeneic thymus and parental parathyroid tissue has been attempted but does not achieve durable correction of the patients' hypoparathyroidism due to parathyroid graft rejection. Surprisingly, we observed correction of hypoparathyroidism in one patient after thymus transplantation. Immunohistochemical analysis and fluorescence in situ hybridization confirmed the presence of allogeneic parathyroid tissue in the patient's thymus transplant biopsy. Despite a lack of HLA-matching between thymus donor and recipient, the reconstituted immune system displays tolerance toward the thymus donor. Therefore we expect this patient's hypoparathyroidism to be permanently cured. It is recognised that ectopic parathyroid tissue is not infrequently found in the thymus. If such thymuses could be identified, we propose that their use would offer a compelling approach to achieving lasting correction of both immunodeficiency and hypoparathyroidism., (© 2019 The American Society of Transplantation and the American Society of Transplant Surgeons.)

The aim of this study was to determine the activity concentrations and radiological hazard parameters of 137 Cs and 40 K in soft tissue samples of sea snails (Rapana venosa) collected from 12 different stations in the East Black Sea coastal area of Turkey. The values in soft tissues of sea snail samples with three different sizes were between 0.31 and 1.79 Bq kg -1 for 137 Cs and 163.9 and 269.4 Bq kg -1 for 40 K. The mean activity concentrations of 137 Cs and 40 K in tissues of small-sized sea snails were determined to be higher than those of 137 Cs and 40 K in soft tissues of the other sizes. The determined activity concentration values were lower than the concentrations reported in similar studies. Radiological hazard parameters such as the daily intake (D int ) of 137 Cs and 40 K, annual committed effective dose (E eff ), and lifetime cancer risk (LCR) were calculated and compared with the international recommended values., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

This study investigated the contents of Cu, Zn and Pb in seawater, sediment, different shell sizes of mussel (Mytilus galloprovincialis) and sea snail (Rapana venosa) samples collected from four different provinces of the Eastern Black Sea Region. With the exception of Zn, all the metal concentration values measured in the sea snail were observed to be higher than those of mussels in all stations. While the correlation between mussels and sea snail according to metal concentrations was found to be positive (p˂0.05), this relation was not observed between the other parameters, such as the shell sizes, salinity and pH (p˃0.05). Although the mean concentration values of Cu, Zn, and Pb for mussel and sea snail are significantly above the tolerable levels, the estimated daily intake values for mussel were below the daily intake recommended., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

We report 5 individuals in 3 unrelated families with severe thrombocytopenia progressing to trilineage bone marrow failure (BMF). Four of the children received hematopoietic stem cell transplants and all showed poor graft function with persistent severe cytopenias even after repeated transplants with different donors. Exome and targeted sequencing identified mutations in the gene encoding thrombopoietin ( THPO ): THPO R99W, homozygous in affected children in 2 families, and THPO R157X, homozygous in the affected child in the third family. Both mutations result in a lack of THPO in the patients' serum. For the 2 surviving patients, improvement in trilineage hematopoiesis was achieved following treatment with a THPO receptor agonist. These studies demonstrate that biallelic loss-of-function mutations in THPO cause BMF, which is unresponsive to transplant due to a hematopoietic cell-extrinsic mechanism. These studies provide further support for the critical role of the MPL-THPO pathway in hematopoiesis and highlight the importance of accurate genetic diagnosis to inform treatment decisions for BMF., (© 2017 by The American Society of Hematology.)

Seawater, sediment and fish (anchovy) samples consumed in the Rize province of the Eastern Black Sea region of Turkey were collected from five different stations. The radioactivity levels ( 226 Ra, 232 Th, 40 K and 137 Cs) were determined in all the samples using a high-purity germanium detector. While 226 Ra, 232 Th and 40 K radionuclides were detected in all samples, the radionuclide concentration of 137 Cs, except for the sediment samples (mean activity is 9±1.4Bqkg -1 ), was not detected for the seawater and fish samples. The total annual effective dose rates from the ingestion of these radionuclides for fish were calculated using the measured activity concentrations in radionuclides and their ingested dose conversion factor. Also, the concentrations of some heavy metals in all the samples were determined. The activity and heavy metal concentration values that were determined for the seawater, sediment and fish samples were compared among the locations themselves and with literature values., (Copyright © 2017 Elsevier Ltd. All rights reserved.)