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1.
BMC Endocr Disord ; 23(1): 214, 2023 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-37807045

RESUMO

BACKGROUND: Primary hyperparathyroidism (PHPT) is an uncommon disorder characterised by hypercalcemia with an increased parathyroid hormone level. We reported a PHPT familial case with two subjects, a father and a daughter, and both of them had suffered from the brown tumor. CASE PRESENTATION: The proband, a 43-year-old patient, developed parathyroid adenomas at the age of 15; a histologically confirmed right parathyroid adenoma was removed by parathyroidectomy; and after six months follow-up, the serum calcium level was normalised. At the age of thirty-three, a CT scan of his head and neck revealed a mass in the right maxilla, as well as PHPT (i.e., left inferior parathyroid adenoma). Then, he underwent a biopsy of an exophytic lesion in the right maxilla and was diagnosed by pathology as a brown tumor, with the serum calcium and PTH levels at 2.78 mmol/L and 221 pg/mL, respectively. Subsequently, the patient took a left inferior parathyroid microwave ablation with ultrasound guidance. After three months of follow-up, the serum calcium and PTH levels returned to normal, and the brown tumor was resolved. After three years, it mineralised as revealed in a CT scan. By the time he was 43 years old, during the 28-year follow-up period, the serum calcium and PTH levels were still within the normal range, and there was no discomfort reported. He has consistently taken calcium supplements throughout the 28 years. Since the initial diagnosis, his blood indicators of kidney function have been normal, and ultrasound showed renal calculus in the right kidney and a normal left kidney. The proband's daughter, a 15-year-old girl, experienced left upper extremity pain for ten months. CT scan revealed a mass in the distal left radius, and a giant cell tumor was suspected. A surgical internal fixation was performed, and the pathology showed a brown tumor. Laboratory tests revealed a serum parathyroid hormone (PTH) level of 1554pg/mL, calcium level of 3.14 mmol/L, phosphorus level of 0.72 mmol/L, and alkaline phosphatase level of 1892 U/L. Given the osteitic changes and elevated levels of calcium and PTH, ultrasonography was performed, after which a mass was detected measuring 19 × 9 × 7 mm mixed with solid components and cystic fluid in the right thyroid gland. The results of 99mTc-MIBI scintigraphy confirmed the abnormal accumulation of 99mTc-MIBI in the right thyroid gland but not seen in the bilateral parathyroid glands. The patient underwent thyroidectomy, and the postoperative pathology report indicated an intra-thyroid ectopic parathyroid adenoma. The serum calcium and PTH levels became normal at 4 h after surgery. One to three months after operation, the serum calcium level was low, while the serum PTH level was high. Then, the patient was advised to take calcium supplements. Until the sixth month after the operation, the serum calcium level and serum PTH level returned to normal, and the bone pain was relieved. The patient's blood tests for kidney function remained normal. There was no evidence of bilateral kidney disease (such as nephrolithiasis or nephrocalcinosis) detected by ultrasound scan. There were several similarities in the state of illness between these two subjects. Both the father and the daughter developed parathyroid adenomas at the age of 15, and there was no lesion in other endocrine glands. And genetic testing revealed mutations in the CDC73 genes in both father and daughter. On the other hand, there were also a few differences. The father's first signs of brown tumor were in the right maxilla, while the daughter's appeared in the distal left radius. The father presented pathological changes in the left and right parathyroid glands, whereas the daughter presented with an ectopic parathyroid adenoma in the right thyroid gland. CONCLUSION: We report a familial case in which father and daughter were diagnosed to have brown tumors due to parathyroid adenoma and ectopic parathyroid adenoma, and genetic testing revealed CDC73 gene mutations in both. Therefore, in the diagnostic and differential process of young patients having bone disease, clinicians should not only focus on the clinical manifestations of the skeleton, but also implement a comprehensive analysis of systemic symptoms, considering the possibility that the patient has familial PHPT.


Assuntos
Hiperparatireoidismo Primário , Osteíte Fibrosa Cística , Neoplasias das Paratireoides , Masculino , Feminino , Humanos , Adolescente , Adulto , Hiperparatireoidismo Primário/complicações , Cálcio , Neoplasias das Paratireoides/patologia , Hormônio Paratireóideo , Dor
2.
Heart Lung Circ ; 28(11): 1697-1705, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30220481

RESUMO

BACKGROUND: Activin A secreted by epicardial adipose tissue (EAT) plays a major role in the progress of atrial fibrosis. However, the potential of Activin A in predicting the occurrence of postoperative atrial fibrillation (POAF) has yet to be elucidated. We aimed to investigate the predicable value of Activin A expression in EAT on POAF. METHODS: A total of 89 patients receiving cardiac surgery without atrial fibrillation (AF) history were enrolled in this study, including 49 patients with valvular heart disease (VHD) and 40 patients with non-valvular heart disease (NVHD). Activin A expression in EAT was determined by quantitative polymerase chain reaction (qPCR), while the thickness of EAT (EATT) was estimated by echocardiography. New onset POAF before discharge was documented. RESULTS: Eventually 32 patients (36.0%) developed POAF, including 20 patients with VHD (40.8%) and 12 patients with NVHD (30.0%). Activin A expression was higher in POAF than sinus rhythm (SR) patients, whether for VHD or NVHD group (All p<0.001). In general, Activin A expression predicted the occurrence of POAF with a sensitivity of 65.6% and specificity of 91.2% (AUC: 0.795; 95%CI: 0.693-0.897, p<0.001). Subgroup analysis showed that EATT was not significant for the VHD group in predicting POAF (p=0.07), while Activin A expression demonstrated a sensitivity of 60.0% and specificity of 89.7% (AUC: 0.745; 95%CI: 0.601-0.889, p<0.001). Multivariate regression analysis showed that Activin A expression in EAT was an independent risk factor for POAF (OR: OR=1.067, 95%CI:1.002-1.136, p=0.042). CONCLUSIONS: Activin A expression in EAT is an independent risk factor for POAF, which can be used for prediction of POAF, especially for patients with VHD.


Assuntos
Ativinas/biossíntese , Tecido Adiposo/metabolismo , Fibrilação Atrial/metabolismo , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Pericárdio/metabolismo , Complicações Pós-Operatórias , Ativinas/genética , Tecido Adiposo/diagnóstico por imagem , Fibrilação Atrial/etiologia , Ecocardiografia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Pericárdio/diagnóstico por imagem , Valor Preditivo dos Testes , Estudos Retrospectivos
3.
J Med Ultrason (2001) ; 43(3): 337-45, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27084372

RESUMO

PURPOSE: This study aimed to use the multiscale blob feature (MBF) method to quantitatively evaluate porcine striated muscle injuries. METHODS: A porcine striated muscle injury model was induced by microwave ablation and anhydrous acetic acid injection, respectively. Then, both 2D sonographic and histological features of the lesions were recorded and compared. Later, MBF was used to quantitatively evaluate the porcine striated muscle injuries by extracting the texture features from the 2D ultrasonogram via measuring eight textural parameters (Mean, SDev, NOB, [Formula: see text], [Formula: see text], HOD, DOD, and POD). RESULTS: Microwave ablation produced oval or round-like lesions, which had a pale gray color, with an echo attenuation detected at lesion center due to carbonization; anhydrous acetic acid injection produced long, stripped lesions, which had a slate-gray color, with a gas-like intense echo at lesion center. There were significant differences in Mean, [Formula: see text] and POD between the muscle samples treated by microwave ablation and the control samples, as well as significant differences in NOB, [Formula: see text] and POD between the muscle samples treated by anhydrous acetic acid injection and the control. There were significant differences in Mean, [Formula: see text], NOB, and [Formula: see text] between the muscle samples treated by microwave ablation and those treated by anhydrous acetic acid injection. CONCLUSION: Quantitative evaluation of striated muscle injuries using the MBF method was able to differentiate the muscle injuries caused by microwave ablation and anhydrous acetic acid injection, suggesting that this method may be a potential and reliable tool for quantitative evaluation of muscle injuries.


Assuntos
Músculo Estriado/diagnóstico por imagem , Músculo Estriado/lesões , Ácido Acético , Animais , Modelos Animais de Doenças , Micro-Ondas , Suínos
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