Respiratory Medicine Extra最新文献

Teratoma with malignant transformation is rarely seen in gonadal or extra-gonadal sites. Extra-gonadal teratoma with malignant transformation is usually found in the mediastinum. More than two-thirds of mediastinal teratoma with malignant transformation cases receive chemotherapy or irradiation at the time of diagnosis. Herein, we report a naturally occurring mediastinal teratoma with malignant transformation in a 43-year-old man complaining of chest tightness and severe dyspnea. A huge cystic mediastinal mass was discovered from chest-computerized tomography scan. Emergent thoracostomy was performed to remove the tumor because of impending respiratory failure. The histology of the tumor was compatible with cystic teratoma, and the transformed non-germ cell region showed both adenocarcinoma and squamous cell carcinoma. The patient underwent postoperative chemotherapy. However, his condition deteriorated rapidly and he expired 8 months after diagnosis. Summarizing previous case reports in the literature: (1) 34.6% of mediastinal teratoma with malignant transformation patients survive after treatment; (2) the malignant components are sarcoma and carcinoma; similar survival rates are achieved where both histological features are present, however, survival is reduced with multiple or mixed types of malignant transformation; (3) the delineation between treatment-induced and naturally occurring teratoma with malignant transformation at the mediastinal site is indistinct; and, (4) complete surgical eradication is still the mainstay of treatment for prolonged survival in patients with mediastinal teratoma with malignant transformation.

Usual interstitial pneumonia as an initial manifestation of ankylosing spondylitis was not reported in the literature until now. We present a 57-year-old male who was admitted to our clinic due to left-sided nonpleuritic chest pain. High-resolution computed tomography scans showed bibasilar ground-glass pattern with honeycombing and apicobullous changes. Histopathologic examination of open lung biopsy, which was taken from left lower lobe was reported as usual interstitial pneumonia. Three years later, the patient described leg and back pain which met the modified New York criteria for ankylosing spondylitis.

Pulmonary lymphangioleiomyomatosis (PLAM) is a rare disease, which occurs mainly in women of reproductive age, and occasionally in postmenopausal women. We report a small pulmonary metastatic uterine body cancer in a 63-year-old female patient with PLAM. In patients with PLAM, differential diagnostic consideration is proliferation of pneumocytes and PLAM cells in addition to benign tumor as well as primary and metastatic lung cancer. We emphasize difficulties in the clinical and roentgenological diagnosis in this kind of combined pathology. Even if the association we describe is probably fortuitous, not only a primary but also a metastatic tumor is suspected when a solitary pulmonary nodule is detected in a patient that has been previously treated for carcinoma in any organs.

Rubinstein–Taybi syndrome is a rare genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features. The syndrome has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP). Most reported cases of Rubinstein–Taybi syndrome are sporadic, with no firm evidence of Mendelian inheritance. We report a case of a 26-year-old male patient of Rubinstein–Taybi syndrome with pulmonary tuberculosis. The occurrence of respiratory infections in patients with this syndrome has been mentioned in the past. Systemic problems involving the respiratory system, feeding and the cardiovascular system have been noted in some individuals with this rare syndrome.

Actinomycosis is a chronic, suppurative granulomatous infection, which is usually caused by Actinomyces israelii. These Gram-positive, anaerobic, saprophyte bacteria may form an abscess followed by sinus tract formation and cause a purulent discharge with yellowish sulfur granules. Actinomycosis can present itself with spinal cord compression, although this form is unusual and is seen in less than 5% of infections. This is a report of a patient in whom extensive actinomycosis developed in the thorax, with a sinus tract draining pus. The patient also had invasion into the spinal canal causing cord compression.

Bronchioloaveolar cell carcinoma (BAC) was defined by the WHO in 1999 to be a subtype of adenocarcinoma with a pure bronchioloalveolar growth pattern showing no evidence of stromal, vascular, or pleural invasion [Travis WD, Colby TV, Conin B, et al. Bronchioloalveolar carcinoma. In: Sobin LH, editor. WHO international histological classification of tumors, 3rd ed. Copenhagen, Denmark: Springer; 1999. p. 34–8]. Although there were some reports that BAC was presented together with squamous cell carcinoma, this is the first report that it might be transformed from surrounding pure nonmucinous BAC. Physicians should be aware that pure BAC could transform to squamous cell carcinoma, and that such cases might not respond to gefitinib.

Most forms of myopathy may involve the respiratory muscles and progress to respiratory failure. However, the diagnosis of myopathy is seldom considered in an adult patient with no history of muscle disease and presenting with respiratory failure. Nemaline myopathy (NM) is a rare disorder characterized by symmetrical diffuse muscle weakness and rod-like nemaline bodies in muscle fibers. Respiratory muscle involvement is a major determinant of mortality in congenital NM, but is rare in late onset NM.

Here, we report that acute or chronic respiratory failure may be caused by NM in subjects with no known history of muscle disease. Adult-onset NM was diagnosed in a 67-year-old woman with chronic respiratory insufficiency. Late onset childhood NM was revealed by respiratory failure in twin sisters aged 31. The diagnosis was established by muscle biopsy and electron microscopy (and mutations in the nebulin gene in the two sisters). Long-term clinical improvement was obtained with non-invasive ventilation (NIV) in the three patients.

In conclusion, respiratory failure in an adult patient with no known history may correspond to NM with diaphragm involvement. Long-term outcome may be favorable with NIV.

Currently, a rare, non-thrombotic cause of pulmonary embolism is being described, resulting from subcutaneous injection of industrial liquid silicone (Polydimethylsiloxane) carried out illicitly by untrained professionals. The most serious systemic complications are the result of pulmonary involvement, with an average mortality of 24%. We describe a fatal case of pulmonary embolism due to liquid silicone injection, in a transsexual male seen at our institution.