Project description:Primary benign tumors of the trachea are uncommon. These tumors may cause tracheal occlusion and lead to a misdiagnosis of asthma. Ectopic parathyroid adenoma (EPA) can be seen anywhere between the mandibular angle and the mediastinum. The distal part of the trachea is a rare location for EPA, and EPA obstructing the endotracheal lumen has not been reported in the literature. We herein describe a 52-year-old female with a several-year history of asthma treatment who presented with progressive dyspnea. Computed tomography revealed a mass that was obstructing the tracheal lumen. Total mass excision was performed via endobronchial treatment, and pathologic examination revealed EPA.
Project description:Parathyroid adenoma is the main cause of primary hyperparathyroidism, which is characterized by enlarged parathyroid glands and excessive parathyroid hormone secretion. Here, we performed transcriptome analysis, comparing parathyroid adenomas with normal parathyroid gland tissue. RNA extracted from ten parathyroid adenoma and five normal parathyroid samples was sequenced, and differentially expressed genes (DEGs) were identified using strict cut-off criteria. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed using DEGs as the input, and protein-protein interaction (PPI) networks were constructed using Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) and visualized in Cytoscape. Among DEGs identified in parathyroid adenomas (n = 247; 45 up-regulated, 202 down-regulated), the top five GO terms for up-regulated genes were nucleoplasm, nucleus, transcription DNA-template, regulation of mRNA processing, and nucleic acid binding, while those for down-regulated genes were extracellular exosome, membrane endoplasmic reticulum (ER), membrane, ER, and melanosome. KEGG enrichment analysis revealed significant enrichment of five pathways: protein processing in ER, protein export, RNA transport, glycosylphosphatidylinositol-anchor biosynthesis, and pyrimidine metabolism. Further, PPI network analysis identified a densely connected sub-module, comprising eight hub molecules: SPCS2, RPL23, RPL26, RPN1, SEC11C, SEC11A, RPS25, and SEC61G. These findings may be helpful in further analysis of the mechanisms underlying parathyroid adenoma development.
Project description:Transcriptional profiling of genes expressed in normal parathyroid glands (Normal) and adenomatous parathyroid glands from patients with primary hyperparathyroidism (PHPT). Stratagen Human Refernece RNA, pooled from 10 human cell lines, was used to identify genes, which are specifically expressed or suppressed in parathyroid tissue. Comparison between normal and tumor parathyroids shows genes that might be involved in hyperproliferation and PTH hypersecretion in tumors.
Project description:Spinal epidural hematoma (SEH) is a rare disease. Several pathologies have been described as a cause, including trauma, arteriovenous malformations, coagulopathies, and iatrogenic causes. Spontaneous spinal epidural hematomas (SSEH) are blood in the spinal extradural space without a known cause. The incidence of SSEH has been estimated as 0.1 per 100,000 per year. Herein, we report a case of spontaneous spinal epidural hematoma in the cervical spine. We report a 57-year-old male patient who presented with sudden axial neck pain associated with upper and lower extremities weakness. Symptoms were precipitated by coughing. MRI of the cervical spine revealed an extradural lesion compressing the dorsal aspect of the spinal cord from C4 - C7. He underwent urgent decompressive laminectomy and evacuation of the hematoma.
Project description:BackgroundPrimary hyperparathyroidism is characterized by enlarged parathyroid glands due to an adenoma (80-85 %) or multiglandular disease (~15 %) causing hypersecretion of parathyroid hormone (PTH) and generally hypercalcemia. Parathyroid cancer is rare (<1-5 %). The epigenetic mark 5-hydroxymethylcytosine (5hmC) is reduced in various cancers, and this may involve reduced expression of the ten-eleven translocation 1 (TET1) enzyme. Here, we have performed novel experiments to determine the 5hmC level and TET1 protein expression in 43 parathyroid adenomas (PAs) and 17 parathyroid carcinomas (PCs) from patients who had local invasion or metastases and to address a potential growth regulatory role of TET1.ResultsThe global 5hmC level was determined by a semi-quantitative DNA immune-dot blot assay in a smaller number of tumors. The global 5hmC level was reduced in nine PCs and 15 PAs compared to four normal tissue samples (p < 0.05), and it was most severely reduced in the PCs. By immunohistochemistry, all 17 PCs stained negatively for 5hmC and TET1 showed negative or variably heterogeneous staining for the majority. All 43 PAs displayed positive 5hmC staining, and a similar aberrant staining pattern of 5hmC and TET1 was seen in about half of the PAs. Western blotting analysis of two PCs and nine PAs showed variable TET1 protein expression levels. A significantly higher tumor weight was associated to PAs displaying a more severe aberrant staining pattern of 5hmC and TET1. Overexpression of TET1 in a colony forming assay inhibited parathyroid tumor cell growth.Conclusions5hmC can discriminate between PAs and PCs. Whether 5hmC represents a novel marker for malignancy warrants further analysis in additional parathyroid tumor cohorts. The results support a growth regulatory role of TET1 in parathyroid tissue.
Project description:BackgroundSpontaneous retroperitoneal hematoma is defined as bleeding in the retroperitoneal space without any triggers such as trauma, invasive procedures, and abdominal aortic aneurysm.Case presentationA 48-year-old Japanese man who experienced sudden abdominal pain, severe hypotension, and decreased hemoglobin was diagnosed with spontaneous retroperitoneal hematoma. Contrast-enhanced computed tomography revealed massive left retroperitoneal hematoma; however, neither extravasation nor causative aneurysm was noted. Through conservative management with close monitoring, he was treated and discharged on the tenth hospital day without any morbidity.ConclusionsSpontaneous retroperitoneal hematoma treatment comprises conservative management, transcatheter arterial embolization, and surgical intervention. The mortality rate of spontaneous retroperitoneal hematoma is so high that the optimal treatment timing needs to be carefully judged on the basis of detailed evaluation, and management algorithm with clear criteria.
Project description:We describe the clinical features and MR-imaging findings of spontaneous spinal subarachnoid hemorrhage located in the lumbar spine associated with subdural hematoma at a higher, thoracic level in a 66-year-old man without neurological deficit. The sequential MR-imaging changes of hemorrhage at various stages in its evolution are portrayed. The possible pathogenetic mechanism for these very unusual, combined hemorrhages in both spinal compartments is discussed.
Project description:BackgroundA fraction of Parathyroid Adenoma (PTA) is considered giant if they weigh more than 3.5 g. There is no clear consensus whether this subgroup has a distinct clinical or biochemical presentation that could have implications on PTA localization and management. In this study, we investigate the difference between regular and giant PTA patients regarding their clinical and laboratory findings as well as their postoperative outcomes.Materials and methodsClinical and PTA-related data were retrospectively retrieved from all patients undergoing parathyroidectomy from 2010 to 2019 at our hospital.ResultsA total number of 84 PTA (Females 76.2%) patients were included, of which 24 (28.6%) qualified as a giant with a mean weight of 7.86 g and the rest were regular adenomas (71.4%) with a mean weight of 1.45 g. Giant adenomas were more likely to present at a younger age compared to regular adenoma patients, (44.4 vs 50.8, P = 0.053, D = 0.470). Preoperative PTH levels were significantly higher in the giant PTA group (650.8 vs 334.2 pg/mL, P = 0.044, r = 0.22). Hospital stay was on average 1.6 days longer in giant PTA patients compared to regular PTA patients.ConclusionGiant PTA compromised a significant percentage of all adenomas, which was higher than what is reported in the literature and might reflect a delay in diagnosis and lack of screening tests. Both giant and regular adenomas seem to run a similar clinical course, yet biochemical abnormalities in PTH levels may have a predictive value for adenoma weight.
Project description:Sporadic primary hyperparathyroidism (PHPT), one of the most common endocrine disorders, is characterized by hypercalcemia and elevated PTH levels. The majority of cases are caused by a benign parathyroid adenoma, but somatic or de novo germ-line mutations that lead to adenoma formation have only been identified in few glands. GCMB is a parathyroid-specific transcription factor, which causes hypoparathyroidism when inactivated on both parental alleles or when a dominant-negative, heterozygous mutation is present. It is overexpressed in some parathyroid adenomas, and we therefore tested the hypothesis that GCMB mutations can be a cause of parathyroid adenomas. Nucleotide sequence analysis was performed on all coding exons and exon-intron borders of GCMB in 30 sporadic parathyroid adenomas and we identified several known polymorphisms that were either heterozygous or homozygous. In addition, one of the 30 investigated glands revealed a novel heterozygous missense mutation, c.1144G>A, which introduced methionine at position 382 for valine (V382M), a conserved amino acid residue. Western blot analysis using mutant GCMB (GCMB-V382M) from lysates of transiently transfected DF-1 fibroblasts, luciferase assays using extracts from these cells, and electrophoretic mobility assays failed to reveal differences between wild-type and mutant GCMB in expression level, transactivational capacity, and DNA-binding ability. Furthermore, pulse-chase experiments demonstrated no difference in half-life of wild-type and mutant protein. We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of PHPT.