[Show abstract][Hide abstract] ABSTRACT: We report a patient with traumatic atlanto-occipital dislocation who presented with dysphagia as the chief complaint. A 59-year-old man complained of swallowing difficulty for 2 months after trauma to the neck. On physical examination, there was atrophy of the right sternocleidomastoid and upper trapezius muscles, and the tongue was deviated to the right. In a videofluoroscopic swallowing study, penetration and aspiration were not seen, food residue remained in the right vallecula and pyriform sinus, and there was decreased motion of the soft palate, pharynx and larynx. Electromyography confirmed a right spinal accessory nerve lesion. Magnetic resonance imaging confirmed atlanto-occipital dislocation. Dysphagia in atlanto-occipital dislocation is induced by medullary compression and lower cranial nerve injury. Therefore, in survivors who are diagnosed with atlanto-occipital dislocation, any neurological symptoms should be carefully evaluated.
Annals of rehabilitation medicine. 06/2013; 37(3):438-42.
[Show abstract][Hide abstract] ABSTRACT: We report a 39-year-old woman with chorea-acanthocytosis (ChAc) who was referred with refractory hyperkinetic movement and truncal bending spasm. She was diagnosed with ChAc with clinical features and laboratory findings of acanthocytosis in peripheral blood smear, and genetic studies revealed novel mutations in the VPS13 gene. Because her symptoms did not respond well to medical treatment, she was in a totally dependent state. We decided to perform globus pallidus interna deep brain stimulation (GPi-DBS) for symptom control. After the operation her hyperkinetic movement, bradykinesia, and truncal bending motion were improved, the preoperative total score of the motor section on the Unified Huntington's Disease Rating Scale (UHDRS) was 44, the independence scale was 50, and functional capacity was 1. However, a year after GPi-DBS, the postoperative score on the motor section was 12, the independence scale was 80, functional capacity was 9, and she had become capable of independent daily life. Although there is currently no curative treatment for ChAc, GPi-DBS represents a promising option for symptomatic control.
Stereotactic and Functional Neurosurgery 07/2012; 90(4):273-7. · 1.46 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl(-)/HCO(3)(-) exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.
Annals of Laboratory Medicine 07/2012; 32(4):312-5. · 1.48 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies.
We identified a large Korean PD family with the p.Tyr1699Cys mutation in LRRK2 and analyzed genealogical, clinical, and genetic data from the family.
Although the clinical findings of these patients were indistinguishable from those of patients with sporadic PD, the patients with the p.Tyr1699Cys mutation demonstrated clinical heterogeneity including differences in age at onset, rate of disease progression, clinical phenotype, and prognosis.
This is the first report describing an Asian PD family with the p.Tyr1699Cys mutation in LRRK2. The affected members of this family showed clinical heterogeneity.
Movement Disorders 12/2011; 27(2):320-4. · 5.63 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: This study was undertaken to determine the genotype variability of human metapneumovirus (hMPV) and its circulation pattern over a 3.5-year period, and to evaluate its clinical characteristics in Korean children. We investigated 4599 pediatric patients who were referred for a routine respiratory virus test by RT-PCR. hMPV genotype analyses were performed using a nested PCR-restriction fragment length polymorphism assay. Clinical and laboratory data obtained from medical records were reviewed retrospectively. Of the 4599 samples tested, 325 (7.1%) were positive for hMPV, and the co-infection rate among these 325 was 16%. Nested PCR-restriction fragment length polymorphism analysis clearly identified four of the five hMPV genotypes (A2a, A2b, B1, and B2) in 97.8%. The predominant genotype of hMPV changed over the 3.5-year study period from genotype A2a to B2 and then back to A2a. The most common genotype was A2a (214/325, 65.8%). Evidence of recurrent infection was obtained in one child only. Lymphocytosis was more frequent in children with a co-infection, but sputum production was less frequent than in children with a single infection. In genotype A2a hMPV-infected children, sneezing and neutrophilia were more frequent than in genotype B1 or B2 hMPV-infected children. This study broadens knowledge regarding the prevalence, the seasonal incidence, the occurrences of co-infection and re-infection, and the genotype diversity of hMPV in Korea.
The Journal of molecular diagnostics: JMD 11/2011; 14(1):61-4. · 3.48 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: In this study, the chromosome-encoded pcuRCAXB genes that are required for p-cresol degradation have been identified by using a newly constructed green fluorescent protein (GFP)-based promoter probe transposon in the long-chain alkylphenol degrader Pseudomonas alkylphenolia. The deduced amino acid sequences of the genes showed the highest identities at the levels of 65-93% compared with those in the databases. The transposon was identified to be inserted in the pcuA gene, with the promoterless gfp gene being under the control of the pcu catabolic gene promoter. The expression of GFP was positively induced by p-cresol and was about 10 times higher by cells grown on agar than those in liquid culture. In addition, phydroxybenzoic acid was detected during p-cresol degradation. These results indicate that P. alkylphenolia additionally possesses a protocatechuate ortho-cleavage route for pcresol degradation that is dominantly expressed in colonies.
Journal of Microbiology and Biotechnology 11/2011; 21(11):1179-83. · 1.40 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: In the presence of vaporized p-cresol, Pseudomonas alkylphenolia KL28 forms specialized aerial structures (SAS). A transposon mutant of strain KL28 (C23) incapable of forming mature SAS was isolated. Genetic analysis of the C23 mutant revealed the transposon insertion in a gene (ssg) encoding a putative glycosyltransferase, which is homologous to the Pseudomonas aeruginosa PAO1 PA5001 gene. Deletion of ssg in KL28 caused the loss of lipopolysaccharide O antigen and altered the composition of the exopolysaccharide. Wild-type KL28 produced a fucose-, glucose- and mannose-rich exopolysaccharide, while the mutant exopolysaccharide completely lacked fucose and mannose, resulting in an exopolysaccharide with glucose as the major component. The mutant strain showed reduced surface spreading, pellicle and biofilm formation, probably due to the cumulative effect of lipopolysaccharide truncation and altered exopolysaccharide composition. Our results show that the ssg gene of KL28 is involved in both lipopolysaccharide and exopolysaccharide biosynthesis and thus plays an important role in cell surface properties and cell-cell interactions of P. alkylphenolia.
[Show abstract][Hide abstract] ABSTRACT: This study was performed to determine the biopsy sites that are suitable for the diagnosis of Helicobacter pylori infection and to assess the sensitivity of culture, histology, and dual-priming oligonucleotide (DPO)-based multiplex PCR. Moreover, we evaluated the usefulness of PCR for the detection of 23S rRNA mutations, which are responsible for the clarithromycin resistance of H. pylori.
From 90 patients, we obtained biopsy specimens for culture, histology, and Seeplex ClaR-H. pylori PCR (Seegene Inc., Korea). Phenotypic susceptibility to clarithromycin was evaluated using the E-test (AB Biodisk, Sweden).
H. pylori was detected in 48 of 90 patients. The positive rates of infection in the antrum and body were higher than those in the biopsies obtained from the duodenal bulb. The positive rates in histology, PCR, and culture were 46.7%, 42.2%, and 34.4%, respectively. Using histology or PCR, we identified H. pylori in 46 of the 48 patients. 23S rRNA mutations were detected in 8 patients. The clarithromycin E-test showed that all the 10 wild-type patients were susceptible. However, the results of the PCR and E-test of 3 of the 8 mutation-positive patients were discrepant.
We observed that a combination of histology and PCR affords a high detection rate of H.pylori infection and that DPO-based PCR can be practically used for the diagnosis of H. pylori infection and the determination of clarithromycin resistance. These techniques were useful for biopsy sampling simultaneously from the antrum and body for the detection of clarithromycin resistance of multiple strain infection or heteroresistance.
The Korean Journal of Laboratory Medicine 08/2010; 30(4):381-7. · 0.72 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The association of thymoma with pure red cell aplasia has been well documented, but amegakaryocytic thrombocytopenia is not a recognized paraneoplastic syndrome complicating thymoma. We report a case of thymoma-complicated pure red cell aplasia and amegakaryocytic thrombocytopenia in a 73-yr-old woman. Pure red cell aplasia was diagnosed seven months after the detection of thymoma. One year after the diagnosis of pure red cell aplasia and seven months after thymectomy, bone marrow aspiration and biopsy showed an absence of megakaryocytes, marked erythroid hypoplasia with normal myeloid series. A diagnosis of amegakaryocytic thrombocytopenia and pure red cell aplasia was made. Oral steroid maintenance therapy resulted in recovery of platelet count. She has still transfusion-dependent anemia but platelet and neutrophil counts had been maintained in normal range for more than five months, until the last follow-up. We think that autoreactive T cells may induce a clinical autoimmune response even after eradication of thymoma, and aplastic anemia as a late complication following thymectomy was described in previous cases. This patient also has to be under a close observation because of the possibility to evolve into aplastic anemia.
The Korean Journal of Laboratory Medicine 06/2010; 30(3):244-8. · 0.72 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We report a rare case of hypereosinophilic syndrome (HES) presenting with intractable gastric ulcers. A 71-year-old man was admitted with epigastric pain. Initial endoscopic findings revealed multiple, active gastric ulcers in the gastric antrum. He underwent Helicobacter pylori (H pylori) eradication therapy followed by proton pump inhibitor (PPI) therapy. However, follow-up endoscopy at 4, 6, 10 and 14 mo revealed persistent multiple gastric ulcers without significant improvement. The proportion of his eosinophil count increased to 43% (total count: 7903/mm(3)). Abdominal-pelvic and chest computed tomography scans showed multiple small nodules in the liver and both lungs. The endoscopic biopsy specimen taken from the gastric antrum revealed prominent eosinophilic infiltration, and the liver biopsy specimen also showed eosinophilic infiltration in the portal tract and sinusoid. A bone marrow biopsy disclosed eosinophilic hyperplasia as well as increased cellularity of 70%. The patient was finally diagnosed with HES involving the stomach, liver, lung, and bone marrow. When gastric ulcers do not improve despite H pylori eradication and prolonged PPI therapy, infiltrative gastric disorders such as HES should be considered.
World Journal of Gastroenterology 12/2009; 15(48):6129-33. · 2.55 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: With globalization, foreign patients are frequently encountered at the clinical practice in Korea. As the number of migrant workers from Southeast Asia has been notably rising since the late 1990's, unfamiliar tropical infectious diseases that they bring out, may give great challenges to the routine clinical practice in Korea. Melioidosis is a community-acquired infection caused by a gram-negative bacillus, Burkholderia pseudomallei. It has been endemic in Southeast Asia and Northern Australia, where B. pseudomallei is a soil saprophyte and invades the host through inoculation or inhalation. It frequently presents as an acute septicemia with a high mortality rate of 40%, mainly in patients with chronic underlying diseases, such as diabetes mellitus. Recently, we encountered a case of fatal disseminated melioidosis in a migrant worker from Thailand. We suggest an importance of melioidosis as a cause of community-acquired sepsis in migrant workers from Southeast Asia.
The Korean Journal of Laboratory Medicine 05/2009; 29(2):140-4. · 0.72 Impact Factor