A Case of Atypical Leber Hereditary Optic Neuropathy Associated withMT-TL1Gene Mutation Misdiagnosed with Glaucoma (original) (raw)
Related papers
The Korean journal of laboratory medicine, 2009
A 70-yr-old woman was hospitalized with a history of dry cough. Bronchial endoscopy and transbronchial lung biopsy were performed. However, the findings of histopathology and immunohistochemistry were not sufficient to decide whether the lesion was benign or malignant, because of the presence of crush artifacts in the biopsy specimens. We performed B-cell clonality studies using BIOMED-2 multiplex PCR (InVivoScribe Technologies, USA) to detect clonal rearrangements in the immunoglobulin gene. The results of multiplex PCR showed clonal rearrangements of both kappa and lambda immunoglobulin light chain genes. The findings of immunochemistry revealed that the lesion expressed lambda light chain, but not kappa light chain. Based on the clinical, pathologic, and molecular findings, this case was diagnosed as pulmonary MALT lymphoma. We report the first case in Korea of lambda-expressing MALT lymphoma that is shown to have dual clonal rearrangements of kappa and lambda immunoglobulin ligh...
Journal of the Korean Ophthalmological Society, 2012
Purpose: To evaluate clinical features of patients who have experienced decreased exodeviation after refractive error correction. Methods: Thirty-four patients who experienced decreased exodeviation after refractive error correction between 2003 and 2010 were evaluated. Visual acuity, refractive errors, reported age at onset, duration of wearing glasses, stereopsis, and function of fusion were evaluated. Results: The present study included 34 patients with intermittent exotropia. Before correcting refractive errors, the mean visual acuity was 0.34 ± 0.27 for the right eye and 0.37 ± 0.27 for the left eye according to log MAR. After refractive error correction, mean visual acuity improved to 0.12 ± 0.11 for the right eye and 0.11 ± 0.11 for the left eye according to log MAR. Before correcting refractive errors, the amount of deviation was 18.
Renal Failure with Branchio-Oto-Renal Syndrome
The Korean Journal of Medicine, 2018
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder that is characterized by preauricular pits, branchial fistula, branchial cyst, hearing impairment, and kidney anomalies. Hearing impairment is the single most common feature of BOR syndrome, affecting 89% of patients. Preauricular pits (77%), kidney anomalies (66%), branchial fistula (63%), external auditory canal anomalies (41%) are also common. For most patients, BOR syndrome does not affect life expectancy. The major life-threatening feature of this condition is kidney dysfunction, which occurs with about 6% of kidney anomalies. Therefore, once BOR syndrome is recognized in a patient, careful evaluation to detect renal anomalies and treatment of any kidney involvement are necessary. No case reports of BOR syndrome involving adult-onset end-stage kidney disease have been published in the Korean medical literature. We report a case of end-stage kidney disease in a 19-year-old male patient with BOR syndrome, together with a review of the pertinent literature.
Evaluation of the Performance of Lumipulse G1200 for Tumor Marker Assays
Laboratory Medicine Online, 2012
G1200 (Fujirebio, Tokyo, Japan)이 국내에 도입되었다. 저자들은 종양표지자인 carcinoembryonic antigen (CEA), α-fetoprotein (AFP), cancer antigen 125 (CA125), cancer antigen 15-3 (CA15-3), cancer antigen 19-9 (CA19-9), prostate specific antigen (PSA), protein induced by vitamin K absence or antagonist-II (PIVKA-II),
A Case of Extremely Elevated Ferritin Levels in a Patient with Fever of Unknown Etiology
Fever of unknown etiology that occurs along with highly elevated serum ferritin concentrations (>500 ng/mL) is mostly observed in hematologic malignancies and rheumatic diseases such as systemic lupus erythematosus, temporal arteritis, and adult-onset Still's disease (AOSD), among which AOSD is a type of systemic inflammatory disorder with unknown pathophysiology and has very low incidence. AOSD presents with various nonspecific symptoms and signs such as high spiking fever, joint pain, skin rash, and increased leukocytes. Because AOSD is diagnosed after excluding the possibility of other conditions such as neoplasms, infections, and inflammations, diagnosis and treatment are generally delayed. Patients with AOSD often have high serum ferritin levels than those with other conditions, although the underlying mechanism for this is not clearly understood. In addition, decreased proportion of glycosylated ferritin are observed in most patients with AOSD. Therefore a combination of high serum ferritin and a decreased proportion of glycosylated ferritin seems to be important for the differential diagnosis of AOSD that thus may allow early diagnosis of AOSD. Here we report a case of AOSD diagnosed via extremely high serum ferritin levels and decreased glycosylated ferritin proportion.
[An autopsied case of primary pulmonary hypertension complicated by hepatopulmonary syndrome]
PubMed, 1995
A 57-year-old man, who had received a transfusion five years before, was admitted to our hospital complaining of worsening dyspnea on exertion. Cardiac catheterization was performed, and pulmonary hypertension was diagnosed. Liver dysfunction was also documented. We administered diuretics and observed his clinical course. Gradually worsening hypoxemia and radioisotope accumulation in the kidney following a lung perfusion scintigram suggested the existence of an intrapulmonary shunt. The patient died seven years later due to exacerbation of heart failure secondary to pulmonary infection. Autopsy revealed remarkable hypertensive pulmonary arteriopathy as well as abnormal dilation of precapillary pulmonary arterioles. Esophageal varices suggested portal hypertension. Marked hypoxemia and intrapulmonary vascular dilation suggest the contribution of an hepatopulmonary syndrome.