Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149514 (bronchitis)
 6,902 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the first case of an endobronchial perineurioma, a rare benign neoplasm typically occurring in soft tissue. A 53-year-old nonsmoking female presented with a three-month history of persistent bronchitis. A CT scan followed by bronchoscopy demonstrated an endobronchial lesion involving the left mainstem bronchus. Removal of the lesion by bronchoscopy was accomplished. The tumor was composed of bland spindle cells in a variably collagenized stroma. These cells had long cytoplasmic processes. No mitotic activity or necrosis was observed. Neoplastic cells were immunoreactive for epithelial membrane antigen (EMA), CD34, and claudin-1. Smooth muscle actin (SMA), desmin, and S-100 immunostains were all negative. Based on the morphologic appearance and immunophenotype, a diagnosis of perineurioma was rendered.
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PMID:Endobronchial perineurioma: an unusual soft tissue lesion in an unreported location. 2115 24

Adenomatoid tumor is an uncommon benign neoplasm of mesothelial differentiation that distinctively arises in and around the genital organs. In rare instances, it has been described in extragenital locations. There have been only two reports documenting its occurrence in the anterior mediastinum, and no reports documenting its occurrence in the posterior mediastinum. We report the first case of posterior mediastinal adenomatoid tumor. A 37-year-old Caucasian woman presented with symptoms of bronchitis. Imaging studies identified a 2.0 cm posterior mediastinal mass abutting the T9 vertebral body, clinically and radiologically most consistent with schwannoma. Histologic sections revealed a lesion composed of epithelioid cells arranged in cords and luminal profiles embedded in a fibrotic to loose stroma and surrounded by a fibrous pseudocapsule. Lesional cells showed vacuolated eosinophilic cytoplasm and peripherally displaced nuclei with prominent nucleoli. There was focal cytologic atypia but no mitotic figures or necrosis was identified. The lesional cells expressed cytokeratin, calretinin, and nuclear WT1 but were negative for PAX8, TTF1, p53, chromogranin, CD31, and CD34, and Ki67 showed <2% proliferation rate, diagnostic of adenomatoid tumor. Three years after resection, the patient is in good health without tumor recurrence. Thus, our encounter effectively expands the differential diagnosis of posterior mediastinal neoplastic entities.
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PMID:Posterior Mediastinal Adenomatoid Tumor: A Case Report and Review of the Literature. 2729 40

Loss of adenosine deaminase activity leads to severe combined immunodeficiency (ADA-SCID); production and function of T, B, and natural killer (NK) cells are impaired. Gene therapy (GT) with an autologous CD34+-enriched cell fraction that contains CD34+ cells transduced with a retroviral vector encoding the human ADA cDNA sequence leads to immune reconstitution in most patients. Here, we report short- and medium-term safety analyses from 18 patients enrolled as part of single-arm, open-label studies or compassionate use programs. Survival was 100% with a median of 6.9 years follow-up (range, 2.3 to 13.4 years). Adverse events were mostly grade 1 or grade 2 and were reported by all 18 patients following GT. Thirty-nine serious adverse events (SAEs) were reported by 15 of 18 patients; no SAEs were considered related to GT. The most common adverse events reported post-GT include upper respiratory tract infection, gastroenteritis, rhinitis, bronchitis, oral candidiasis, cough, neutropenia, diarrhea, and pyrexia. Incidence rates for all of these events were highest during pre-treatment, treatment, and/or 3-month follow-up and then declined over medium-term follow-up. GT did not impact the incidence of neurologic/hearing impairments. No event indicative of leukemic transformation was reported.
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PMID:Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety. 2943 35