Brain Abnormalities in Neuromyelitis Optica Spectrum Disorder

Neuromyelitis optica (NMO) is an idiopathic inflammatory syndrome of the central nervous system that is characterized by severe attacks of optic neuritis (ON) and myelitis. Until recently, NMO was considered a disease without brain involvement. However, since the discovery of NMO-IgG/antiaqaporin-4 antibody, the concept of NMO was broadened to NMO spectrum disorder (NMOSD), and brain lesions are commonly recognized. Furthermore, some patients present with brain symptoms as their first manifestation and develop recurrent brain symptoms without ON or myelitis. Brain lesions with characteristic locations and configurations can be helpful in the diagnosis of NMOSD. Due to the growing recognition of brain abnormalities in NMOSD, these have been included in the NMO and NMOSD diagnostic criteria or guidelines. Recent technical developments such as diffusion tensor imaging, MR spectroscopy, and voxel-based morphometry reveal new findings related to brain abnormalities in NMOSD that were not identified using conventional MRI. This paper focuses on the incidence and characteristics of the brain lesions found in NMOSD and the symptoms that they cause. Recent studies using advanced imaging techniques are also introduced

Adiponectin gene SNP 276G → T, nutrient intakes, and cardiovascular disease risk in Korean type 2 DM patients

Single nucleotide polymorphism (SNP) in adiponectin gene has been associated with insulin resistance, diabetes, and cardiovascular disease (CVD). This study was performed to investigate the association of SNP 276G→T at adiponectin gene with CVD risk factors in Korean type 2 diabetes mellitus (DM) patients. The subjects were 351 type 2 DM patients visited a DM clinic in Seoul, and the patients with known CVD were excluded. The adiponectin SNP 276G→T was analyzed and dietary intakes were assessed by a Food Frequency Questionnaire. The prevalence of G/G, G/T, and T/T genotype was 47.6%, 43.3%, and 9.1%, respectively. Male subjects with T/T genotype showed significantly lower level of adiponectin and HDL-cholesterol and significantly higher C-reactive protein (CRP) level compared to G/G and G/T genotypes. In G/G genotype, protein intake was negatively correlated to body weight, BMI, and waist circumference, and there were positive correlation between carbohydrate intake and BMI, waist-hip ratio, and ApoB/apoA-1 ratio in G/T genotype. However, in T/T genotype, there was no significant association between macronutrient intakes and anthropometric and hematological values. In conclusion, CVD risk would be high in type 2 DM patients with T/T genotype, and the association of macronutrient intakes with anthropometric and hematologic factors was different among the three adiponectin genotypes. These results may imply the need for different dietary management regime according to adiponectin genotype to lower CVD complications in Korean type 2 DM patients

Motor-Evoked Potential Confirmation of Functional Improvement by Transplanted Bone Marrow Mesenchymal Stem Cell in the Ischemic Rat Brain

This study investigated the effect of bone marrow mesenchymal stem cells (BMSCs) on the motor pathway in the transient ischemic rat brain that were transplanted through the carotid artery, measuring motor-evoked potential (MEP) in the four limbs muscle and the atlantooccipital membrane, which was elicited after monopolar and bipolar transcortical stimulation. After monopolar stimulation, the latency of MEP was significantly prolonged, and the amplitude was less reduced in the BMSC group in comparison with the control group (P < .05). MEPs induced by bipolar stimulation in the left forelimb could be measured in 40% of the BMSC group and the I wave that was not detected in the control group was also detected in 40% of the BMSC group. Our preliminary results imply that BMSCs transplanted to the ischemic rat brain mediate effects on the functional recovery of the cerebral motor cortex and the motor pathway

A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly

In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm3; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15000/mm3 with giant platelets. Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband

Familial Interstitial Lung Disease in Two Young Korean Sisters

Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease. With familial interstitial lung diseases, mutations of surfactant protein B and surfactant protein C or other additional genetic mechanisms (e.g. mutation of the gene for ATP-binding cassette transporter A3) could be associated. We found a 21 month-old girl with respiratory symptoms, abnormal radiographic findings and abnormal open lung biopsy findings compatible with nonspecific interstitial pneumonitis that is similar to those of her older sister died from this disease. We performed genetic studies of the patient and her parents, but we could not find any mutation in our case. High-dose intravenous methylprednisolone and oral hydroxychloroquine were administered and she is still alive without progression during 21 months of follow-up

N-terminal Pro-Brain Natriuretic Peptide Levels Predict Left Ventricular Systolic Function in Patients with Chronic Kidney Disease

N-terminal pro-brain natriuretic peptide (NT-proBNP) can be a useful marker for left ventricular (LV) dysfunction in patients without kidney disease. This study was conducted to clarify the relationship between NT-proBNP and LV systolic function in patients with decreased renal function. We studied 256 chronic kidney disease (CKD) patients, patients on dialysis were excluded. The median glomerular filtration rate was 24 (13-36) mL/min/1.73 m2 and the median NT-proBNP was 4,849 (1,310-19,009) pg/mL. The prevalence of LV systolic dysfunction increased from the lower to the upper NT-proBNP quartiles (I, 17%; II, 34%; III, 61%; and IV, 72%; p<0.001 for trend). The NT-proBNP quartile was an independent predictor of LV systolic dysfunction after adjustment for renal function, compared with quartile I: II, odds ratio (OR) 3.99 (95% confidence interval [CI],1.34-11.93); III, OR 11.28 (95% CI, 3.74-33.95); and IV, OR 36.97 (95% CI, 11.47-119.1). Area under the curve and optimum cut points for NT-proBNP to detect LV systolic dysfunction were 0.781 and 2,165 pg/mL in CKD stage 3, 0.812 and 4,740 pg/mL in CKD stage 4, and 0.745 and 15,892 pg/mL in CKD stage 5. The NT-proBNP level was a predictor of LV systolic dysfunction in CKD patients. Optimum cut points should be stratified according to renal function

Prevalence of Anti-Ganglioside Antibodies and Their Clinical Correlates with Guillain-Barre Syndrome in Korea: A Nationwide Multicenter Study

Background and Purpose No previous studies have investigated the relationship between various anti-ganglioside antibodies and the clinical characteristics of Guillain-Barre syndrome (GBS) in Korea. The aim of this study was to determine the prevalence and types of anti-ganglioside antibodies in Korean GBS patients, and to identify their clinical significance. Methods Serum was collected from patients during the acute phase of GBS at 20 university-based hospitals in Korea. The clinical and laboratory findings were reviewed and compared with the detected types of anti-ganglioside antibody. Results Among 119 patients, 60 were positive for immunoglobulin G (IgG) or immunoglobulin M antibodies against any type of ganglioside (50%). The most frequent type was IgG anti-GM1 antibody (47%), followed by IgG anti-GT1a (38%), IgG anti-GD1a (25%), and IgG anti-GQ1b (8%) antibodies. Anti-GM1-antibody positivity was strongly correlated with the presence of preceding gastrointestinal infection, absence of sensory symptoms or signs, and absence of cranial nerve involvement. Patients with anti-GD1a antibody were younger, predominantly male, and had more facial nerve involvement than the antibody-negative group. Anti-GT1a-antibody positivity was more frequently associated with bulbar weakness and was highly associated with ophthalmoplegia when coupled with the coexisting anti-GQ1b antibody. Despite the presence of clinical features of acute motor axonal neuropathy (AMAN), 68% of anti-GM1- or anti-GD1a-antibody-positive cases of GBS were diagnosed with acute inflammatory demyelinating polyradiculoneuropathy (AMP) by a single electrophysiological study. Conclusions Anti-ganglioside antibodies were frequently found in the serum of Korean GBS patients, and each antibody was correlated strongly with the various clinical manifestations. Nevertheless, without an anti-ganglioside antibody assay, in Korea AMAN is frequently misdiagnosed as AIDP by single electrophysiological studies.OAIID:oai:osos.snu.ac.kr:snu2014-01/102/0000004487/14SEQ:14PERF_CD:SNU2014-01EVAL_ITEM_CD:102USER_ID:0000004487ADJUST_YN:YEMP_ID:A075641DEPT_CD:801CITE_RATE:1.807FILENAME:kimjk-anti ganlioside ab-gbs-j clin neurol-2014-10(2)94.pdfDEPT_NM:의학과SCOPUS_YN:YCONFIRM:

Radiofrequency Ablation of Benign Thyroid Nodules and Recurrent Thyroid Cancers: Consensus Statement and Recommendations

Thermal ablation using radiofrequency is a new, minimally invasive modality employed as an alternative to surgery in patients with benign thyroid nodules and recurrent thyroid cancers. The Task Force Committee of the Korean Society of Thyroid Radiology has developed recommendations for the optimal use of radiofrequency ablation for thyroid nodules. These recommendations are based on a comprehensive analysis of the current literature, the results of multicenter studies, and expert consensus