Objective The advantage of transbronchial biopsy (TBB) using endobronchial ultrasonography (EBUS) with a guide sheath (GS) over TBB without EBUS guidance was investigated in this study. Materials and Methods A retrospective chart review was conducted at Nagasaki University Hospital, Japan. Data were collected from all cases of peripheral pulmonary lesions (PPLs) undergoing either EBUS-GS-guided TBB or TBB without EBUS guidance in our department from December 2003 through November 2009. The diagnostic yield in each group was compared, after adjustment for other factors. Results In total 110 PPLs were investigated in 102 patients: 65 (59.1%) were examined with EBUS-GS-guided TBB (EBUS-GS group) and 45 (40.9%) were TBB without EBUS guidance (non-EBUS group). Both procedures were performed under x-ray fluoroscopy. Basic characteristics were similar between the two groups. Of all EBUS examined lesions, 53 (81.5%) were visualized by EBUS. The diagnostic yields in EBUS-GS group and non-EBUS group were 64.6% and 46.7%, respectively (p=0.08). Adjusting for size and location of lesions, the yield of EBUS-GS guidance was 1.46 (95% confidence interval 1.03 to 2.05) times higher than without EBUS guidance. When the lesion was visualized by EBUS, the diagnostic yield ratio was further increased to 1.63 (95% CI 1.16 to 2.27). Conclusion EBUS-GS-guided TBB demonstrates a higher diagnostic yield than TBB without EBUS guidance.
Peripartum cardiomyopathy (PPCM) is a cardiomyopathy of unknown cause that occurs in the peripartum period. We report a case of PPCM presenting with syncope 1 month after an uncomplicated delivery. Electrocardiography showed Torsades de pointes (TdP) and QT interval prolongation. Echocardiography showed left ventricular systolic dysfunction and endomyocardial biopsy showed myocyte degeneration and fibrosis. Administration of magnesium sulfate and temporary pacing eliminated recurrent TdP. Genetic analyses revealed that recurrent TdP occurred via electrolyte disturbance and cardiac failure due to PPCM on the basis of a novel mutation in KCNH2, a gene responsible for inherited type 2 long QT syndrome.
Mutation in the transthyretin (TTR) gene may clinically manifest as cardiomyopathy. Here, we describe 69-year-old and 72-year-old brothers who were diagnosed as having TTR-related familial amyloid cardiomyopathy by endomyocardial biopsy at different hospitals at around the same time. They were not from an endemic area of familial amyloid polyneuropathy. Genetic analysis showed a base change in the TTR gene leading to a p.Val30Met mutation in both patients. Screening of family members, as well as detailed family history taking, is important for the diagnosis of cardiomyopathy of unknown etiology.
Amoebiasis is a worldwide parasitic infection although it is more prevalent in the subtropical and tropical countries. Extraintestinal amoebic infections currently have been reported in increased numbers of male homosexuals and immunocompromised patients. Here, we present an interesting case of a 27-year-old homosexual man with pleural empyema secondary to rupture of amoebic liver abscess. Using chest tube and percutaneous liver abscess drainage, the patient was treated with metronidazole followed by iodoquinol. His general condition improved dramatically. After one-year of follow-up, there was no evidence of relapse on plain chest radiography and abdominal CT scan.
We report a case of painless thyroiditis detected during the first trimester of pregnancy. A 29-year-old Japanese woman was hospitalized because of thyrotoxicosis and she was confirmed to be pregnant. The gestational age was 4 weeks. Blood examinations revealed negative TSH receptor antibodies, however, we started potassium iodide because we were unable to rule out Graves' disease. Thyroid hormone levels were normalized in 3 weeks and remained low even after discontinuation of medication. She received replacement therapy with levothyroxine sodium hydrate till 3 months after delivery. Painless thyroiditis can be one of the differential diagnoses of thyrotoxicosis in a very early stage of pregnancy.
Myelolipomas are adrenal tumors composed of both adipose and hematopoietic tissues which are rarely associated with primary aldosteronism (PA). Here, we report a case of myelolipoma associated with PA. Aldosterone hypersecretion from bilateral adrenal glands had been confirmed by adrenal venous sampling and pathological analyses, but PA was clinically cured after surgical removal of the unilateral adrenal gland together with the myelolipoma that was not producing aldosterone. It is suggested that myelolipomas may release some factors which stimulate aldosterone production in adrenal glands, although further investigation is necessary. Obesity-related hyperaldosteronism might in part participate in generation of hypertension in the present case.
Haff disease, first identified in Europe, is unexplained rhabdomyolysis in a person who ingested fish within the 24 hours before onset of illness. Cases of Haff disease after the consumption of fresh water fish have never been reported in China but have been frequently reported from the Baltic region. We first describe five cases of muscle weakness and rhabdomyolysis that occurred after eating crayfish in China and discuss the different epidemiologic and etiologic aspects of this disease.
A 49-year-old woman with a 20-year history of Sjögren's syndrome (SS) was incidentally found to have an abnormal chest X-ray along with dyspnea and desaturation. Chest CT findings showed multiple cystic shadows, ground glass opacity, and small nodule-like lymphocytic interstitial pneumonia (LIP), which have been previously reported. She was diagnosed by surgical lung biopsy to have mucosa-associated lymphoid tissue (MALT) lymphoma. It was difficult to detect the presence of lymphoma by the use of only CT findings. Pulmonary involvement of SS occurs in various forms so that SS patients with pulmonary involvement should undergo open biopsy to reach a definitive diagnosis.
Isolated pulmonary Langerhans cell histiocytosis (LCH) in adults is known to regress spontaneously after smoking cessation alone, but little is known about whether this rationale could also apply in cases of multisystem pulmonary LCH. In particular, pediatric patients with multisystem LCH including involvement in "risk organs" such as lungs often benefit from systemic chemotherapy. Here, we present a 37-year-old man with spontaneous regression of pulmonary lesions in multisystem LCH, achieved solely by smoking reduction following local treatment of bone lesions.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently recognized neurological disease, and mutations in the MLC1 gene have been identified as the cause of the disorder. A 54-year-old Japanese woman with macrocephaly presented with progressive mental decline, gait disturbance due to spasticity and ataxia, and choreoathetotic movement in the left upper extremity. Brain magnetic resonance imaging (MRI) revealed characteristic subcortical cysts in addition to diffuse white matter involvement. Genetic analysis of the MLC1 gene identified an S93L mutation in a homozygous state. This case is particularly valuable because of the lack of knowledge on the long-term prognosis of MLC.
A 24-year-old female presented with fever and dry cough. Influenza A virus infection was suspected and the patient was treated with neuraminidase inhibitors. Five days after diagnosis, the patient developed persistent fever and dyspnea, and was diagnosed with severe pneumonia. Despite intensive treatment, the pneumonia worsened and the patient died 14 days after admission. At autopsy, a diffuse alveolar damage (DAD) pattern was observed. Immunohistochemical evaluation indicated severe epithelial damage, resulting in successive regeneration of alveolar type II cells followed by marked proliferation of smooth muscle cells and an increase of collagen fibers at the tip of alveolar orifices.