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  • 1
    Online Resource
    Online Resource
    Graves’ disease following allogenic hematopoietic stem cell transplantation for severe aplastic anemia: case report and literature review
    Walter de Gruyter GmbH ; 2018
    In:  Journal of Pediatric Endocrinology and Metabolism Vol. 31, No. 5 ( 2018-5-24), p. 589-593
    Details
    In: Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter GmbH, Vol. 31, No. 5 ( 2018-5-24), p. 589-593
    Abstract: Similar autoimmune processes (defective T-cell function) take place during the pathogenesis of aplastic anemia (AA) and Graves’ disease (GD). Antithyroid drugs used for the management of GD may induce AA and GD may occur following treatment of severe aplastic anemia (SAA). Case presentation: Clinical and laboratory investigations were performed for an 11-year-and-2-month-old girl who was referred for bilateral exophthalmus and abnormal thyroid function tests. She had been diagnosed as having severe acquired AA at the age of 8 years and had been treated with allogenic hematopoietic stem cell transplantation from her healthy human leukocyte antigen-matched sibling donor. Clinical examination revealed a weight of 32.6 kg (−0.88 standard deviation [SD] score); height, 145.7 cm (−0.14 SD score); body mass index 15.5 kg/m 2 (−1.01 SD score); heart rate, 110/min; blood pressure, 128/74 mmHg; bilateral exophthalmos and an enlarged thyroid gland. The laboratory workup showed hemoglobin of 11.1 g/dL; white blood cells, 7500/mL; platelets, 172,000/mL; free thyroxine (FT4), 4.80 ng/dL (normal, 0.5–1.51); free triiodothyronine (FT3), 17.7 pg/mL (normal, 2.5–3.9); thyrotropin (TSH), 0.015 mIU/mL (normal, 0.38–5.3); antithyroglobulin peroxidase (TPO) antibody, 61.7 IU/mL (normal, 0–9); antithyroglobulin (TG) antibody, 〈 0.9 IU/mL (normal, 0–4) and thyrotropin (TSH) receptor antibodies 14 U/L (normal, 0–1). Doppler ultrasonography showed diffuse enlargement of the thyroid gland and increased vascularity. She was treated with methimazole (0.6 mg/kg/day). L-thyroxine treatment was also needed (50 μg/day). Thrombocytopenia developed during follow-up. A thyroidectomy was performed for definitive treatment at the 14th month of treatment. Conclusions: The association of hyperthyroidism and AA in the pediatric age group is rare. The long-term use of antithyroid drugs and radioactive iodine should be avoided due to their hematologic toxic side effects.
    Type of Medium: Online Resource
    ISSN: 2191-0251 , 0334-018X
    URL: Article
    DOI: 10.1515/jpem-2017-0358
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2018
    detail.hit.zdb_id: 2583847-7
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  • 2
    Online Resource
    Online Resource
    Hemoglobin A 1C can differentiate subjects with GCK mutations among patients suspected to have MODY
    Walter de Gruyter GmbH ; 2022
    In:  Journal of Pediatric Endocrinology and Metabolism Vol. 35, No. 12 ( 2022-12-16), p. 1528-1536
    Details
    In: Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter GmbH, Vol. 35, No. 12 ( 2022-12-16), p. 1528-1536
    Abstract: The aim of this study is to determine the clinical and molecular characteristics enabling differential diagnosis in a group of Turkish children clinically diagnosed with MODY and identify the cut-off value of HbA 1c , which can distinguish patients with GCK variants from young-onset type 1 and type 2 diabetes. Methods The study included 49 patients from 48 unrelated families who were admitted between 2018 and 2020 with a clinical diagnosis of MODY. Clinical and laboratory characteristics of the patients at the time of the diagnosis were obtained from hospital records. Variant analysis of ten MODY genes was performed using targeted next-generation sequencing (NGS) panel and the variants were classified according to American Collage of Medical Genetics and Genomics (ACMG) Standards and Guidelines recommendations. Results A total of 14 (28%) pathogenic/likely pathogenic variants were detected among 49 patients. 11 variants in GCK and 3 variants in HNF1A genes were found. We identified four novel variants in GCK gene. Using ROC analysis, we found that best cut-off value of HbA 1c at the time of diagnosis for predicting the subjects with a GCK variant among patients suspected to have MODY was 6.95% (sensitivity 90%, specificity 86%, AUC 0.89 [95% CI: 0.783–1]). Most of the cases without GCK variant (33/38 [86%]) had an HbA 1c value above this cutoff value. We found that among participants suspected of having MODY, family history, HbA 1c at the time of diagnosis, and not using insulin therapy were the most differentiating variables of patients with GCK variants. Conclusions Family history, HbA 1c at the time of diagnosis, and not receiving insulin therapy were found to be the most distinguishing variables of patients with GCK variants among subjects suspected to have MODY.
    Type of Medium: Online Resource
    ISSN: 0334-018X , 2191-0251
    URL: Article
    DOI: 10.1515/jpem-2022-0381
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2022
    detail.hit.zdb_id: 2583847-7
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