Analysis of Cooperation Project for Early Diagnosis of Leprosy from 2009 to 2018 / 대한피부과학회지

Background@#Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae. As leprosy has a long disease course, various dermatoses must be considered in the differential diagnosis. @*Objective@#In Korea, due to the low incidence rate of leprosy and lack of doctors with experience of leprosy, it is difficult to make an early diagnosis. Therefore, we evaluated the importance of cooperation projects in the diagnosis of leprosy. @*Methods@#A retrospective study was performed on 137 patients who were referred by other hospitals to the Institute for Leprosy Research, Korean Hansen Welfare Association, to make an early diagnosis of leprosy from 2009 to 2018. @*Results@#Among 137 patients, 19 were diagnosed with leprosy, which accounted for approximately 37% of new cases of leprosy in Korea during the 10 years. By nationality, 15 were Korean, and 4 were foreigners. The most common type was lepromatous leprosy. All multibacillary patients were positive for phenolic glycolipid-1 antibody, M. leprae-specific gene polymerase chain reaction, and acid-fast bacilli stain. Among the four paucibacillary patients who showed both negative acid-fast bacilli stain and phenolic glycolipid-1, three were positive for polymerase chain reaction. Of the 55 skin biopsy specimens that were not diagnosed with leprosy, granulomatous skin disease was the most commonly diagnosed condition. @*Conclusion@#In this study, we diagnosed patients with leprosy who were referred from other hospitals due to the suspicion of leprosy, which enables early treatment of leprosy. Finally, we believe that our project has public health significance in preventing the spread of leprosy in the community.

Approach Using Multiple Biomarkers for Diagnosis of Hansen's Disease / 나학회지

Background@#The prevalence of leprosy has almost reached the goal of World Health Organization. Accordingly, attention to leprosy and the number of skilled doctors who can diagnosis the leprosy upon clinical manifestations were decreased which caused the delayed diagnosis of leprosy. @*Objective@#Serum C-reactive protein, interferon gamma-induced protein 10, anti-phenolic-glycolipid-1 IgM are biomarkers associated with multi-bacillary leprosy. Therefore, we investigated whether the use of multiple biomarkers has diagnostic value. @*Methods@#The samples were collected from August 2012 to December 2019 at our institute. Through various statistic methods, multiple biomarkers and equation were compared in multi-bacillary patients, pauci-bacillary patients, contacts and different skin disease. @*Results@#Samples were collected from 21patients (17 multi-bacillary, 4 pauci-bacillary) and 17 from non-patients (7 from contacts, 10 from other skin disease). Serum level of C-reactive protein, interferon gamma-induced protein 10, anti-phenolic-glycolipid-1 IgM and equation showed statistical significance compared from patients to non-patients. Comparing multi-bacillary patients to pauci-bacillary patients, only anti-phenolic-glycolipid-1 IgM showed statistical significance. Each area under receiver operating characteristic curve of those biomarkers and equation was ≥0.70 and p≤0.05. The results of Equation using 3 indicators showed higher area under receiver operating characteristic curve and lower P value compared when each indicator was used. Also sensitivity and specificity of them presented meaningful data. @*Conclusion@#We confirmed that using integrated analysis of three biomarkers is more significant than the single indicator in the diagnosis of leprosy. In addition, the use of multiple biomarkers is thought to contribute to the management of leprosy in the community.

Approach Using Multiple Biomarkers for Diagnosis of Hansen's Disease / 나학회지

Background@#The prevalence of leprosy has almost reached the goal of World Health Organization. Accordingly, attention to leprosy and the number of skilled doctors who can diagnosis the leprosy upon clinical manifestations were decreased which caused the delayed diagnosis of leprosy. @*Objective@#Serum C-reactive protein, interferon gamma-induced protein 10, anti-phenolic-glycolipid-1 IgM are biomarkers associated with multi-bacillary leprosy. Therefore, we investigated whether the use of multiple biomarkers has diagnostic value. @*Methods@#The samples were collected from August 2012 to December 2019 at our institute. Through various statistic methods, multiple biomarkers and equation were compared in multi-bacillary patients, pauci-bacillary patients, contacts and different skin disease. @*Results@#Samples were collected from 21patients (17 multi-bacillary, 4 pauci-bacillary) and 17 from non-patients (7 from contacts, 10 from other skin disease). Serum level of C-reactive protein, interferon gamma-induced protein 10, anti-phenolic-glycolipid-1 IgM and equation showed statistical significance compared from patients to non-patients. Comparing multi-bacillary patients to pauci-bacillary patients, only anti-phenolic-glycolipid-1 IgM showed statistical significance. Each area under receiver operating characteristic curve of those biomarkers and equation was ≥0.70 and p≤0.05. The results of Equation using 3 indicators showed higher area under receiver operating characteristic curve and lower P value compared when each indicator was used. Also sensitivity and specificity of them presented meaningful data. @*Conclusion@#We confirmed that using integrated analysis of three biomarkers is more significant than the single indicator in the diagnosis of leprosy. In addition, the use of multiple biomarkers is thought to contribute to the management of leprosy in the community.

A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2

No abstract available.

Improved Bulbar Function in Amyotrophic Lateral Sclerosis after Nuedexta (Dextromethorphan and Quinidine) Treatment

Nuedexta (dextromethorphan and quinidine) is an Food and Drug Administration approved medication for pseudobulbar affect. Interestingly, this drug was recently reported to improve speech, swallowing, and the ability to handle oral secretions along with emotional lability in amyotrophic lateral sclerosis (ALS) patients with bulbar symptoms. We report a Korean ALS patient whose bulbar function improved after administering Nuedexta for 6 months, extending therapeutic choice of approach in treating ALS patients.

The Analysis of Anemia in Persons affected leprosy / 나학회지

BACKGROUND@#The anemia still remains the most common hematologic disorder in the world despite improvements in general health and nutrition. Recently, the prevalence of anemia in the persons affected leprosy aged over 60 years in Korea was reported 22.4% in 60–69 years and 47.4% in 70 years or older in male and was reported 33.8% in 60–69 years and 46.0% in 70 years or older in female.@*OBJECTIVE@#In the meantime, the studies were limited to the subjects in a specific region, and the number of subjects was not enough, so it was not enough to evaluate the of anemia of persons affected by leprosy in Korea. So this study was conducted to evaluate it's prevalence, types, & presumed causes in settlement villages nationwide.METHOD: This study was conducted that the mobile team visited the resettlement villages nationwide from 2009 to 2019 and conducted on persons affected by leprosy and residents residing in resettlement village. Obtained bloods & serums were assayed (hemoglobin, mean corpucular volume, red blood cell distribution width, serum ferritin, serum iron, TIBC, serum vitamin B12, serum folate).RESULT: The prevalence of anemia was 34.31%(male 36.49%, female 32.97%), the proportion of the anemia classified by MCV was 2.6%(microcytic), 66.3%(normocytic), and 31.1%(macrocytic). Among micro- & normocytic anemia, a cause of the anemia was attributed 12.5% to anemia of iron deficiencies, 7.5% anemia of iron deficiencies with anemia of chronic diseases, and 5% to anemia of chronic diseases, among normo- & macrocytic anemaia, was attributed 8.6% to anemia of vitamin B12 deficiency(< 211 pg/ml) and 23.8% to anemia of folate deficiency(< 5.38 ng/ml).@*CONCLUSION@#In this study, we found that the prevalence of anemia in the persons affected leprosy aged over 60 years was higher than other past reports of general population over 60 years in Korea. So we will consider about the evaluation of higher prevalence of anemia in persons affected leprosy, causes of anemia, especially dapsone-related & other underline disease and management plan for anemia in them by the in-depth studies.

Relapsed Leprosy with Multiple Ulcerative Skin Lesions: A Case Report / 나학회지

Leprosy is a chronic infectious and granulomatous disease caused by Mycobacterium leprae. It is treated with a multidrug therapy (MDT), which is consisted of dapsone, rifampicin, and clofazimine. However, there were relapsed leprosy associated with various predisposing factors; persisting organism, multiple involved skin lesions and nerves, HIV infection, monotherapy, inadequate and irregular therapy. Early or late relapses were observed in leprosy. Early onset relapses may occur due to insufficient treatment, and late relapses are probably with persistent bacilli and drug resistant organisms. Herein, we report on an interesting case of a 78-year-old man presented with relapsed leprosy associated with ulcerative skin lesions. The patient was diagnosed with lepromatous leprosy about 40 years ago, and he was treated with dapsone monotherapy and MDT. Our case is thought to have occurred due to persistent bacilli related to irregular therapy.

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

Seropositivity of Hepatitis C Virus among Persons affected Leprosy in Korea / 나학회지

BACKGROUND: Leprosy is a contagious chronic granulomatous disease and is a disease that is associated with defects in cellular immunity. A high prevalence of hepatitis C virus infection in leprosy patients has been reported in several African countries, Yemen, Brazil and Japan. In Korea, it's seropositivity was reported as 8.33%(2001), 39.3%(2002), 35.1%(2009) and 16.0%(2009) on Korean Leprosy Bulletin. OBJECTIVE: In the meantime, the studies were limited to the subjects in a specific region, and the number of subjects was not enough, so it was not enough to evaluate the hepatitis C virus seropositivity of persons affected by leprosy in Korea. So this study was conducted to evaluate the it's seropositivity in settlement villages nationwide. METHOD: This study was conducted that the mobile team visited the resettlement villages nationwide from 2009 to 2017 and conducted on persons affected by leprosy and residents residing in resettlement village. Obtained serums were assayed by the ADVIA Centaur HVC(IgG antibodies to Hepatitis C Virus) reagent using a Siemens ADVIA Centaur CP instrument. The results of persons affected by leprosy and residents were compared, and the difference of seropositivity among the groups(male and female, multibacillary and paucibacillary, locations of resettlement villages) was evaluated. RESULT: The results of hepatitis C virus antibody positivity of 1669 persons affected by leprosy subjects and 185 residents of resettlement villages were 28.46% in persons affected by leprosy and 6.49% in residents(Pearson's Chi-Square test, P = 0.00). In persons affected by leprosy, that were 31.99%(male) and 26.84%(female)(Pearson's Chi-Square test, P = 0.06) and were 29.97%(multibacillary) and 25.36%(paucibacillary)(Pearson's Chi-Square test, P = 0.05). That of Seoul(48.28%), Busan(43.78%) and Chungbuk Province(35.94%) were highly positive and that of Gangwon Province(20.34%) was lowly positive(Fisher's Exact test P = 0.002). CONCLUSION: In this study, we found that hepatitis C virus antibody positivity rate was high in persons affected by leprosy in Korea. In order to explain the high positive rate, further studies will be needed. Also, through various approaches including assessment of HCV RNA to the subjects who were judged to be positive for antibody test in the future, a comprehensive evaluation of hepatitis C and its countermeasures are needed.

New patient of Hansen's disease in young Korean man / 나학회지

Hansen's disease (leprosy) is a chronic infectious disease caused by Mycobacterium leprae which affect mainly skin and nerve systems. Currently the incidence of leprosy reached the goals set by WHO in the year 2000. In recent 10 years, only 47 new patients were found in Koreans and their average age was over 70. A 21 year-old young man showed multiple erythematous papules, macules and plaque at face, extremities and trunk. In family history, his grandfather was diagnosed with leprosy at young age and leprosy was recurred when the patient was 7 years old. The patient lived with grandfather from birth to 7 years old. Clinico-pathologically he was diagnosed with a lepromatous leprosy. We performed VNTR both at the skin tissue of grandfather and patient to find out the infection pathway of the patient and found some consistent. Herein, we report a new case of young Korean male transmitted from grandfather.

GNE Myopathy with Prominent Axial Muscle Involvement

No abstract available.

Remission after Rituximab Therapy in Refractory Myasthenia Gravis

Myasthenia gravis (MG) is estimated to be refractory in approximately 10% of patients with generalized MG. A 35-year-old man was diagnosed as generalized MG with thymoma. Despite aggressive immunotherapies, his myasthenic symptoms relapsed five times within one year. We therefore administered rituximab for treating the refractory MG, and this resulted in remission. There are few reports on treating MG with rituximab, but this case suggests that rituximab can be an effective treatment option for refractory MG.

Pulmonary Thromboembolism after Intravenous Immunoglobulin Therapy in Guillain-Barre Syndrome / 대한임상신경생리학회지

Intravenous immunoglobulin (IVIG) is a safe treatment to treat various neurological disorders, but fatal thrombotic events as rare complications have been reported. A 54-year-old woman with Guillain-Barre syndrome complained of dyspnea during IVIG treatment. She was finally diagnosed with pulmonary thromboembolism. To the best of our knowledge, this is the first case of pulmonary thromboembolism associated with IVIG treatment in a Korean patient with Guillain-Barre syndrome.

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients. The aim of this study was to identify the causative gene in a family with CMTX with peripheral neuropathy and deafness. CASE REPORT: A Korean family with X-linked recessive CMT was enrolled. The age at the onset of hearing loss of the male proband was 5 months, and that of steppage gait was 6 years; he underwent cochlear surgery at the age of 12 years. In contrast to what was reported for the first patients with CMTX5, this patient did not exhibit optic atrophy. Furthermore, there was no cognitive impairment, respiratory dysfunction, or visual disturbance. Assessment of his family history revealed two male relatives with very similar clinical manifestations. Electrophysiological evaluations disclosed sensorineural hearing loss and peripheral neuropathy. Whole-exome sequencing identified a novel p.Ala121Gly (c.362C>G) PRPS1 mutation as the underlying genetic cause of the clinical phenotype. CONCLUSIONS: A novel mutation of PRPS1 was identified in a CMTX5 family in which the proband had a phenotype of peripheral neuropathy with early-onset hearing loss, but no optic atrophy. The findings of this study will expand the clinical spectrum of X-linked recessive CMT and will be useful for the molecular diagnosis of clinically heterogeneous peripheral neuropathies.

Validity and Reliability of the Korean Version of the Liverpool Adverse Events Profile (K-LAEP) in People with Epilepsy

PURPOSE: The aim of the study was to evaluate the validity and reliability of the Korean version of the Liverpool Adverse Events Profile (K-LAEP).METHODS: An observational, cross-sectional study was performed in people with epilepsy (PWE) treated with a stable dose of antiepileptic drugs (AEDs). The scale was translated from the English version into a Korean version and was then back-translated to examine its accuracy. Patients completed the K-LAEP, Quality of Life in Epilepsy-31 (QOLIE-31), Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI).RESULTS: Three hundreds twelve patients were enrolled. The K-LAEP was completed in a short time, perceived as easy to comprehend, and there was no relevant information missing. Ceiling/floor effects were negligible. Internal consistency (Cronbach's alpha=0.9) and test-retest reliability (ICC=0.8) were satisfactory. The K-LAEP scores consistently correlated with QOLIE-31 (r= -0.528), BDI (r=0.526) and BAI (r=0.557) scores. When the K-LAEP was used to discriminate between patients with and without AED-related toxicity, the scores on the QOLIE, BDI and BAI corresponded. Anxiety symptoms were the strongest predictor to determine K-LAEP scores.CONCLUSIONS: The K-LAEP scale reveals highly acceptable parameters of the validity and reliability, suggesting that it is an appropriate instrument to measure adverse effects among Korean PWE.

Validity and Reliability of the Korean Version of the Liverpool Adverse Events Profile (K-LAEP) in People with Epilepsy / 대한간질학회지

PURPOSE: The aim of the study was to evaluate the validity and reliability of the Korean version of the Liverpool Adverse Events Profile (K-LAEP). METHODS: An observational, cross-sectional study was performed in people with epilepsy (PWE) treated with a stable dose of antiepileptic drugs (AEDs). The scale was translated from the English version into a Korean version and was then back-translated to examine its accuracy. Patients completed the K-LAEP, Quality of Life in Epilepsy-31 (QOLIE-31), Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI).

Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene

Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.

Clinical Applications of Neural Stem Cells for the Treatment of Peripheral Neuropathy / 한양의대학술지

Extraordinary advances in stem cell research have initiated an era of hope for strategies to treat intractable human diseases. Personalized regenerative treatment using stem cells is expected to accelerate continuous investment and research efforts throughout the world. Despite of their constraints, adult stem cells and embryonic stem cells have been used for cell transplantation for several intractable diseases. Besides adult and embryonic stem cells, the recent studies of induced pluripotent stem cells widened the possibility of patient-specific cell therapy, drug discovery, and disease modeling. This review focuses on the developments and potential applications of the stem cells for the treatment of peripheral neuropathy.

A Case of Xanthogranuloma on the Subungual Area of an Adult / 대한피부과학회지

No abstract available.

Cutaneous Schwannoma Presented as a Pedunculated Protruding Mass

Schwannoma is a benign neoplasm of the nerve sheath origin. It arises from the nerve sheath of large peripheral or cranial nerves and occurs at the level of the subcutaneous fat layer or deeper layer. Cutaneous schwannoma occurs more superficially and usually presents as a solitary dermal or subcutaneous nodule. We describe a case of cutaneous schwannoma that presented as an erythematous pedunculated protruding mass on the left flank of a 19-year-old female. It was clinically diagnosed as a granuloma pyogenicum. Shaving biopsy was conducted and histological examination revealed an encapsulated tumor mass containing dense, spindle-shaped cells whose nuclei are arranged back to back representing Verocay body, and a diagnosis of schwannoma was made. This is an unusual case of cutaneous schwannoma that presented as a pedunculated protruding mass.