Project description:Cryptococcal osteomyelitis is an infrequent infection which is usually associated with disseminated cryptococcosis or underlying immunocompromised conditions. Here we described a rare case with isolated iliac cryptococcosis in an immunocompetent patient. Through histological, microbial, and molecular biological examinations, the pathogen was finally identified as C. neoformans VNI genotype, which likely originated from environmental bird droppings. The clinical isolate was hypomelanized but fully virulent in mouse infection model. The patient displayed lower CD4+-T lymphocyte ratio, reduced serum IFN-γ and IL-12, and dysregulated transcriptional profile of blood leukocytes compare with healthy host. After surgical excision and 34 weeks’ antifungal treatment, the patient got clinical cured. Our study suggested that cryptococcosis development was closely associated with the interaction of fungal agent and host immunity. Accurate diagnosis of bone cryptococcosis depends mainly on histological and fungal examinations. A combination of antifungal agent treatment regimen and surgery were quite effective for resolving bone cryptococcosis.
Project description:BackgroundLeigh syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction with both phenotypic and genetic heterogeneity. Mitochondrial impairments are usually demonstrated by skeletal muscle biopsy. We report a case of Leigh syndrome diagnosed by endomyocardial biopsy (EMB), not by skeletal muscle biopsy.Case summaryAt aged 7 months, the patient had delayed motor development. He developed metabolic acidosis triggered by an infection with elevated lactate and pyruvate values in serum and cerebrospinal fluid when he was 1 year old. T2-weighted imaging on magnetic resonance imaging of the brain revealed bilateral hyperintensity in midbrain and dorsal pons. Biopsied skeletal muscle did not show evidence of mitochondrial disease. Left ventricular hypertrophy, bilateral putamen hyperintensity in T2-weighted imaging and a lactate peak in the right basal ganglia in single voxel spectroscopy, and a convulsive seizure appeared at the age of 12, 15, and 16, respectively. When he was 17 years old, biopsied myocardium showed cytoplasmic vacuolization and a marked proliferation of mitochondria within myofibrils pathologically. Respiratory chain enzyme activity of the biopsied myocardium showed decreased activity of complex I. Genetic testing revealed an m.14453 A>G mutation on the MT-ND6 gene. He was finally diagnosed with Leigh syndrome. Administration of oral 5-aminolevulinic acid reduced the frequency of seizures.DiscussionEMB led to the diagnosis of Leigh syndrome. Efforts to find and conduct the biopsy of affected organs are important to diagnose mitochondrial disease. EMB is a useful diagnostic method when there is a difficulty in diagnosing mitochondrial disease by skeletal muscle biopsy.
Project description:Primary splenic angiosarcoma carries a poor prognosis and is among the rarest forms of malignancy. An overwhelming majority of patients with splenic angiosarcoma will develop metastases. However, osseous metastatic disease is rare. We present an 83 year old hispanic female who was diagnosed with primary splenic angiosarcoma on bone marrow biopsy performed for a hematologic workup. We highlight key historical, laboratory, imaging, and pathological features of splenic angiosarcoma. The synthesis of both imaging features and clinical history is essential for establishing early diagnosis in these patients.
Project description:Pleural fibrosis is defined as an excessive deposition of extracellular matrix (ECM) that results in destruction of the normal pleural tissue architecture and compromised function. However there is currently no effective medication for pleural fibrosis. Understanding the detailed mechanisms of pleural fibrosis is an important unmet need which could lead to the identification of new targets for treatment of this condition. microRNAs (miRNAs) play an important role in the posttranscriptional control of gene expression. In our study, cellular fractions from TBPE contained activities capable of promoting fibrosis-like behavior in pleural mesothelial cells (PMCs), the goal of this study is to compare the exosomal miRNA composition of TBPE and TPE. We isolated exosomes from transudative pleural effusion and tuberculous pleural effusions and performed miRNA sequencing. Our study represents the first detailed analysis of exosomal miRNA composition of TBPE and TPE with biologic replicates, generated by miRNA-Seq technology.
Project description:Thymoma is the most common paraneoplastic syndrome-associated tumor. It is related to a variety of autoimmune diseases including myasthenia gravis, systemic lupus erythematosus, and hypogammaglobulinemia. Only a few reports of thymoma associated with Addison's disease have been reported to date. Herein, we report a novel case of thymoma complicated with autoimmune Addison's disease and interstitial lung disease. The patient developed adrenal crisis with persistent hypotensive shock and heart block after needle biopsy. Acute exacerbation of the interstitial lung disease was also observed, accompanied by severe respiratory failure. After treatment with glucocorticoids, somatostatin, and temporary pacemaker implantation, the patient's condition improved, and the thymoma had shrunk in size. Finally, he underwent transsternal extended thymectomy and lymph node dissection. Hydrocortisone was given intravenously before surgery, on the operation day and after the surgery. The operation was uneventful, and no hypotension or fever occurred. Cortisol and ACTH were still obviously abnormal at 1 month post-surgery. The clinical manifestations of Addison's disease and interstitial lung disease are hidden and can be easily overlooked. However, in the postoperative period, Addison's disease can lead to adrenal crisis developing, which can progress to life-threatening shock, arrhythmia, and acute respiratory failure. Therefore, clinicians should be aware of this phenomenon and consider a regimen combining proactive glucocorticoid replacement therapy with somatostatin to preserve the life of such patients.