Purpose: To analyze the altered brain regions and intrinsic brain activity patterns in trauma-exposed firefighters without posttraumatic stress disorder (PTSD). Materials and Methods: Resting-state functional MRI (rsfMRI) was performed for all subjects. Thirty-one firefighters over 40 years of age without PTSD (31 men; mean age, 49.8 ± 4.7 years) were included. Twenty-six non-traumatized healthy controls (HCs) (26 men; mean age, 65.3 ± 7.84 years) were also included. Voxel-based morphometry was performed to investigate focal differences in the brain anatomy. Seed-based functional connectivity analysis was performed to investigate differences in spontaneous brain characteristics. Results: The mean z-scores of the Seoul Verbal Learning Test for immediate and delayed recall, Controlled Oral Word Association Test (COWAT) score for animals, and COWAT phonemic fluency were significantly lower in the firefighter group than in the HCs, indicating decreased neurocognitive function. Compared to HCs, firefighters showed reduced gray matter volume in the left superior parietal gyrus and left inferior temporal gyrus. Further, in contrast to HCs, firefighters showed alterations in rsfMRI values in multiple regions, including the fusiform gyrus and cerebellum. Conclusion Structural and resting-state functional abnormalities in the brain may be useful imaging biomarkers for identifying alterations in trauma-exposed firefighters without PTSD.

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Adult ; Age of Onset ; Alleles ; Basal Ganglia ; Brain ; Dystonia ; Freezing ; Gait ; Gene Frequency ; Genetic Association Studies ; Humans ; Iron ; Korea ; Movement Disorders ; Neurodegenerative Diseases ; Pantothenate Kinase-Associated Neurodegeneration* ; Parkinsonian Disorders ; Phenotype ; Population Characteristics* ; Referral and Consultation ; Weather

In the present study, the effects of different photoperiods on stress, immunity, and hematological parameters in ICR mice were evaluated. Fifty male ICR mice 7 weeks old (body weight, 27.3 +/- 2.5 g) were divided into five groups: DP-0 (0/24-h light/dark cycle), DP-6 (6/18-h light/dark cycle), DP-12 (12/12-h light/dark cycle), DP-18 (18/ 6-h light/dark cycle), and DP-24 (24/0-h light/dark cycle). During the experimental period, no significant differences in body weight or feed intake were observed between the groups. Hematological analysis revealed that white blood cell, red blood cell, and hemoglobin values for the DP-0 group were significantly different compared to those of the other groups. After 28 days, no significant difference in serum cortisol concentration was observed among the groups, but serum cortisol levels increased in a light exposure-dependent manner. Total serum immunoglobulin G (IgG) concentrations of the DP-0 and PD-6 groups were significantly increased compared to those of the other groups (P < 0.05), and serum total IgG levels decreased in a light exposure-dependent manner. Results of the present study indicated that various photoperiods affect hematological parameters and total serum IgG levels in ICR mice while having no significant effects on body weight, feed intake, or cortisol levels.
Animals ; Body Weight ; Erythrocytes ; Humans ; Hydrocortisone ; Immunoglobulin G ; Leukocytes ; Male ; Mice ; Mice, Inbred ICR* ; Photoperiod*

PURPOSE: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients. MATERIALS AND METHODS: We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids. RESULTS: All 12 patients were men. Patient ages at symptom onset ranged from 18 to 55 years. Family history was positive in two patients. The phenotype distributions consisted of AMN without cerebral involvement in seven patients, AMN with cerebral involvement in two patients, and the spinocerebellar phenotype in three patients. Nerve conduction studies revealed abnormalities in four patients and visual evoked tests revealed abnormalities in three patients. Somatosensory evoked potential tests revealed central conduction defects in all of the tested patients. Spinal MRI showed diffuse cord atrophy or subtle signal changes in all 12 patients. Brain MRI findings were abnormal in six of the nine tested patients. These brain abnormalities reflected the clinical phenotypes. Mutational analysis identified nine different ABCD1 mutations in 10 of 11 tested patients. Among them, nine have been previously reported and shown to be associated with various phenotypes; one was a novel mutation. CONCLUSION: In conclusion, the present study is the first to report on the clinical and mutational spectrum of Korean AMN patients, and confirms various clinical presentations and the usefulness of brain MRI scan.
ATP-Binding Cassette Transporters/genetics ; Adolescent ; Adrenoleukodystrophy/*diagnosis/*genetics ; Adult ; Brain/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Republic of Korea ; Young Adult

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disorder with protean manifestations. However, compared with articular, cutaneous, or renal involvement, gastrointestinal symptoms are far less common and are particularly unusual for the initial presentation of SLE. Gastrointestinal manifestations range from mild nonspecific symptoms to serious life-threatening complications, such as mesenteric vasculitis, intestinal pseudoobstruction, acute pancreatitis, and protein-losing enteropathy. Therefore, in order to improve the prognosis, early diagnosis and timely treatment are important. We describe a 45-year-old female patient who presented with extensive enteritis and peritonitis as the initial manifestation of SLE. Symptoms at presentation included severe abdominal pain and rapid development of massive ascites. After administration of high-dose corticosteroid therapy, her symptoms showed prompt improvement.
Abdomen, Acute ; Abdominal Pain ; Ascites ; Early Diagnosis ; Enteritis ; Female ; Humans ; Intestinal Pseudo-Obstruction ; Lupus Erythematosus, Systemic ; Middle Aged ; Pancreatitis ; Peritonitis ; Prognosis ; Protein-Losing Enteropathies ; Vasculitis

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
Action Potentials ; Axons ; Charcot-Marie-Tooth Disease ; Cohort Studies ; Humans ; Muscles ; Neural Conduction

The publisher wishes to apologize for incorrectly displaying the author (Seok Beom Gwon) name. We correct his name from Seok Beom Gwon to Seok Beom Kwon.

Ten percent of all myxomas are the familial form. Familial myxomas appear to have autosomal dominant transmission. We experienced two siblings with familial myxomas. A left atrial myxoma was surgically removed in a 21-year-old woman. Six years later, other myxomas were found in the right atrium and the left atrium and these were also surgically removed. Right ventricular and right atrial myxomas were surgically excised in her brother. The two siblings were found to have frame-shift mutations in the PRKAR1A gene (c.537delA; p.Gly180GlufsX26), which is the causative gene for Carney complex. Obtaining the genetic diagnosis makes it possible to prepare more effective therapeutic strategies for these patients and the gene carriers. Complete excision, ruling out multicentricity and proper postoperative follow up are all necessary to avoid recurrence of myxoma.
Carney Complex ; Female ; Follow-Up Studies ; Heart Atria ; Humans ; Myxoma ; Recurrence ; Siblings ; Young Adult

OBJECTIVES: After the investigation of one worker with occupational asthma, we surveyed the prevalence of occupational asthma and the exposure level of pharmaceutical dust of 32 workers in a pharmaceutical company. METHODS: Thirty-two of the 90 employees participated in the survey which consisted of questionnaire, blood sampling, spirometry and skin prick tests with 8 common allergens as well as 9 antibiotics and 2 enzymes. Various indices of the working environment were also measured. Subjects who had a symptom suggestive of work-related asthma or positive skin prick test were further investigated by PC20 methacholine. Nine subjects who had a PC20 result of 16 mg/ml or less (n=7) or had work-related symptoms and positive skin prick test (n=2) were referred to undergo a specific bronchial provocation test to pharmaceutical dust in an academic allergic disease center. RESULTS: Eleven of 32 workers (34.4%) had a work-related symptom suggestive of occupational asthma. Ten (31.2%) showed positive skin prick test. 8 (25.0%) had a PC20 result of 16 mg/ml or less (indicative of significant bronchial hyperresponsiveness), and 5 (15.6%) had a positive result on the specific bronchial provocation test. Exposure levels of stuffing, input of raw materials and screening process were relatively high. CONCLUSIONS: This survey showed that pharmaceutical workers have an increased risk of occupational asthma. Although pharmaceutical factories maintain a relatively good working environment, careful control of respiratory tract exposures, especially during stuffing, input of raw materials and screening process, is important to prevent occupational asthma. Pharmaceutical workers need to undergo regular skin prick and methacholine bronchial provocation tests, as well as asthmatic symptom survey, to ensure the early detection and prevention of occupational asthma.
Allergens ; Anti-Bacterial Agents ; Asthma ; Asthma, Occupational* ; Bronchial Provocation Tests ; Dust* ; Mass Screening ; Methacholine Chloride ; Prevalence* ; Questionnaires ; Respiratory System ; Skin ; Spirometry

T-cell prolymphocytic leukemia (T-PLL) is a rare mature post-thymic T-cell malignancy with infiltration to the blood, bone marrow, lymph node, liver, spleen and skin; this disease has a poor prognosis and an aggressive clinical course. We report here on a case of CD56+ T-PLL that was diagnosed by hematological examination, immunophenotyping and molecular studies including determining the TCL1 expression by using reverse-transcriptase polymerase chain reaction (RT-PCR), and direct sequencing of the RT-PCR product.
Bone Marrow ; Immunophenotyping ; Leukemia, Prolymphocytic, T-Cell* ; Liver ; Lymph Nodes ; Oncogenes* ; Polymerase Chain Reaction ; Prognosis ; Skin ; Spleen ; T-Lymphocytes*