RESUMO
BACKGROUND: B cell activating factor (BAFF), a crucial factor for B cell survival and differentiation, has been linked to several autoimmune conditions. The aim of this study was to evaluate the association of BAFF gene's polymorphisms with its serum levels and to assess their effect on Graves' disease (GD) susceptibility and presentation. METHODS: Sixty-two GD patients and 152 healthy controls have been enrolled to investigate BAFF rs9514827 (-2841 T/C), rs1041569 (-2701 T/A) and rs9514828 (-871 C/T) gene's polymorphism by PCR-RFLP and serum BAFF level's kinetics under medical treatment by ELISA. RESULTS: Median serum BAFF level at baseline was significantly higher in GD patients (841.7 pg/ml [685.23-1058.32]) comparatively to controls (495.75 pg/ml [383.17-595.7]), p = 7.29 E-25. A ROC curve was used to assess BAFF performances in GD diagnosis and revealed an AUC of 94.9% [0.919-0.979], p = 7.29 E-25. At a cutoff value of 654.9 pg/ml of BAFF at baseline, the sensitivity and the specificity were, respectively, 83.9% and 90.8%. BAFF level was significantly increased in smoking patients (1079.55 pg/ml [875.35-1203]) comparatively to nonsmokers (746.95 pg/ml [643.2-915.7]), p = 3.1 E-5. While -2841 T/C and -2701 T/A genotypes and alleles frequencies were similar between patients and controls, the -871*T allele was significantly more prevalent in patients (0.613) than in controls (0.477); p = .01, OR [95% CI] = 1.73 [1.13-2.65]. The three studied polymorphisms were not associated with serum BAFF level at baseline. CONCLUSION: Serum BAFF level is significantly increased in GD especially in smoking patients. rs9514828 - 871*T allele might be a susceptibility variant for GD.
Assuntos
Fator Ativador de Células B , Doença de Graves , Humanos , Fator Ativador de Células B/sangue , Fator Ativador de Células B/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Doença de Graves/sangue , Doença de Graves/tratamento farmacológico , Doença de Graves/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The atypical parathyroid adenoma is a histological diagnosis. It is a parathyroid tumor with atypical histological features different from an adenoma and not similar enough to be considered as a carcinoma. It has an uncertain malignant potential. We report the case of a 55-year-old woman, diagnosed with severe hypercalcemia during her follow-up with the rheumatologist for osteoporosis. The laboratory testing led to the detection of a very important level of parathormone PTH 1325.62 pg/ml (20 fold the normal level), confirming the diagnosis of primary hyperparathyroidism. Investigations of the potential causes led to the presence of a large left inferior parathyroid adenoma. The patient was operated and on the examination of the removed tissue, the histopathological examination concluded to an atypical parathyroid adenoma, and the post-operatory PTH level dropped significantly to 152 pg/ml. The atypical parathyroid adenoma is a very rare tumor, and the diagnosis is still a challenge, the outcome of patients is not well known yet, there for the surveillance is important and must be regularly.
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The simultaneous occurrence of parathyroid carcinoma and nonmedullary thyroid carcinoma is unusual. We report the case of 60-year-old woman who was found to have concurrent parathyroid carcinoma with severe clinical manifestations of primary hyperparthyroidism in addition to an incidental papillary thyroid carcinoma. Parathyroid hormone level was 569 pg/ml (normal range 10-65), and the serum calcium concentration was 13.83 mg/dl (normal range, 8.8-10.4). Preoperative investigation found a large 3 cm anterior cervical nodule suggestive of parathyroid adenoma. Total thyroidectomy and left parathyroidectomy were performed, and the final anatomopathological examination of the operative specimen concluded the coexistence of papillary microcarcinoma and parathyroid carcinoma. Although parathyroid carcinoma is an uncommon cause of hypercalcemia, it should be considered when severe hypercalcemia is observed, and in case of coexistence of thyroid nodules. The possibility of both malignancies must also be considered since parathyroid and nonmedullary thyroid carcinoma rare cases have previously been reported.
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In a nondiabetic patient, fasting hypoglycemia is uncommon and warrants careful assessment. Although rare, NICTH should be considered in patients with recurrent hypoglycemia especially in those with risk factors for HCC.
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Adrenergic cardiomyopathy is uncommon but can be fulminant and life-threatening. Nowadays, the need to exclude the possibility of COVID-19 pneumonia in patients with acute dyspnea in a previously healthy adult may cause a delay in the diagnosis.
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Langerhans cell histiocytosis (LCH) is a rare sporadic proliferative disorder of Langerhans cells. LCH rarely involves the thyroid gland. We report herein a case of a disseminated chronic form of LCH with a diagnosis established by histological examination of the thyroid gland. It is about a 37-year-old female who underwent total thyroidectomy for a thyroid nodule of the right lobe. Histological study showed a granulomatous thyroiditis, and the immunohistochemistry study revealed a strong positivity of histiocytes for the CD1 antigen and for the S100 protein. The incidence of LCH involving the thyroid gland, either as an isolated lesion or as a part of multisystemic disease, is extremely rare.