Objective: This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers. Methods: From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups. Results: Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly. Conclusion HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. MATERIALS AND METHODS: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. RESULTS: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. CONCLUSION: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
Academies and Institutes ; Asian Continental Ancestry Group ; DNA ; Humans ; Korea ; Methods ; Paraffin ; Point Mutation ; Precision Medicine ; Prevalence

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. MATERIALS AND METHODS: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic MPNST (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared. RESULTS: Patients with NF-MPNST had a significantly lower median age (32 years vs. 45 years for sMPNST, p=0.012), significantly larger median tumor size (8.2 cm vs. 5.0 cm for sMPNST, p < 0.001), and significantly larger numbers of imaging studies and surgeries (p=0.004 and p < 0.001, respectively). The 10-year overall survival (OS) rate of the patients with MPNST was 52±6%. Among the patients with localized MPNST, patients with NF-MPNST had a significantly lower 10-year OS rate (45±11% vs. 60±8% for sMPNST, p=0.046). Univariate analysis revealed the resection margin, pathology grade, and metastasis to be significant factors affecting the OS (p=0.001, p=0.020, and p < 0.001, respectively). Multivariate analysis of the patients with localized MPNST identified R2 resection and G1 as significant prognostic factors for OS. CONCLUSION: NF-MPNST has different clinical features from sMPNST and requires more careful management. Further study will be needed to develop specific management plans for NF-MPNST.
Humans ; Korea ; Multivariate Analysis ; Neoplasm Metastasis ; Neurilemmoma* ; Neurofibromatoses* ; Neurofibromatosis 1* ; Pathology ; Sarcoma ; Seoul

INTRODUCTION: Perioperative irradiation is often combined with spine tumor surgery. Radiation is known to be detrimental to healing process of bone fusion. We tried to investigate bone fusion rate in spine tumor surgery cases with perioperative radiation therapy (RT) and to analyze significant factors affecting successful bone fusion. METHODS: Study cohort was 33 patients who underwent spinal tumor resection and bone graft surgery combined with perioperative RT. Their medical records and radiological data were analyzed retrospectively. The analyzed factors were surgical approach, location of bone graft (anterior vs. posterior), kind of graft (autologous graft vs. allograft), timing of RT (preoperative vs. postoperative), interval of RT from operation in cases of postoperative RT (within 1 month vs. after 1 month) radiation dose (above 38 Gy vs. below 38 Gy) and type of radiation therapy (conventional RT vs. stereotactic radiosurgery). The bone fusion was determined on computed tomography images. RESULT: Bone fusion was identified in 19 cases (57%). The only significant factors to affect bony fusion was the kind of graft (75% in autograft vs. 41 in allograft, p=0.049). Other factors proved to be insignificant relating to postoperative bone fusion. Regarding time interval of RT and operation in cases of postoperative RT, the time interval was not significant (p=0.101). CONCLUSION: Spinal fusion surgery which was combined with perioperative RT showed relatively low bone fusion rate (57%). For successful bone fusion, the selection of bone graft was the most important.
Allografts ; Autografts ; Cohort Studies ; Humans ; Medical Records ; Retrospective Studies ; Spinal Fusion ; Spine* ; Transplants

Macrophage activation syndrome (MAS) is a secondary hemophagocytic lymphohistiocytosis caused by autoimmune diseases, such as systemic lupus erythematosus (SLE). It is characterized by fever, cytopenia, coagulopathy, hepatosplenomegaly, elevated liver enzyme, and high ferritin, typically combined with hemophagocytic histiocyte proliferation in the bone marrow. Here, we report a case of MAS in a patient with SLE treated successfully by tocilizumab. She was transferred to our hospital due to persistent fever of unknown origin. Initial blood tests revealed cytopenia, elevated liver enzyme, and high ferritin. Bone marrow histology revealed the presence of hemophagocytic histiocytes. The patient was initially treated with high dose corticosteroids; however, fever and cytopenia were not controlled. Additional treatments with cyclosporine, intravenous immunoglobulin, and rituximab were applied consecutively, but the fever and cytopenia persisted. Symptom resolution was finally achieved following treatment with tocilizumab, resulting in rapid improved of fever, and resolution of pancytopenia within 2 months.
Adrenal Cortex Hormones ; Autoimmune Diseases ; Bone Marrow ; Cyclosporine ; Ferritins ; Fever ; Fever of Unknown Origin ; Hematologic Tests ; Histiocytes ; Humans ; Immunoglobulins ; Liver ; Lupus Erythematosus, Systemic* ; Lymphohistiocytosis, Hemophagocytic ; Macrophage Activation Syndrome* ; Macrophage Activation* ; Macrophages* ; Pancytopenia ; Rituximab

Intrathecal baclofen (ITB) therapy has been proven to reduce severe spasticity in cerebral palsy (CP). However, few results reported the objective gait pattern change after ITB bolus injection in adult ambulatory CP. We therefore evaluated observational and kinematic gait patterns at different ITB bolus injection doses. We performed a test trial of 3-day ITB bolus injections at doses of 12.5 microg, 25 microg, and 50 microg in ambulatory CP. We evaluated modified Ashworth scale, visual analogue scale, observational gait scale, and kinematic gait analysis after ITB bolus injection. Intrathecal administration of low-dose baclofen 25 microg was successfully used not only for the treatment of spasticity but also for the treatment of gait disturbance, whereas the higher dose baclofen 50 microg induced foot drop and deteriorated gait pattern. We experienced dose-dependent changes in gait pattern confirmed by the observational and kinematic gait assessments after ITB bolus injection in adult ambulatory CP.
Adult* ; Baclofen* ; Cerebral Palsy* ; Foot ; Gait* ; Humans ; Muscle Spasticity

Lipoma is a common neoplasm in soft tissues. However, an intrapulmonary lipoma is a rare benign tumor. Patients with a bronchial lipoma might have a malignant potential related to their smoking history due to the case reports of lung cancer accompanied with lipoma. Endobronchial lipoma can cause irreversible parenchymal lung damage if not diagnosed and treated early. Therefore, it should initially be treated by fiberoptic bronchoscopy or surgery depending on the status of distal parenchymal lung damage. Bronchiolitis obliterans with organizing pneumonia (BOOP) is a pathological syndrome that is defined by the presence of buds of granulation tissue consisting of fibroblasts and collagen within the lumen of the distal air spaces. BOOP is caused by drug intoxication, connective tissue disease, infection, obstructive pneumonia, tumors, or an unknown etiology. We encountered a 58 year-old male patient with endobronchial lipoma, causing the collapse of the right middle and lower lobes, and BOOP due to obstructive pneumonia.
Bronchiolitis ; Bronchiolitis Obliterans ; Bronchoscopy ; Collagen ; Connective Tissue Diseases ; Cryptogenic Organizing Pneumonia ; Fibroblasts ; Granulation Tissue ; Humans ; Lipoma ; Lung ; Lung Neoplasms ; Male ; Pneumonia ; Smoke ; Smoking

OBJECTIVE: Several lines of pharmacological evidences including the data of animal studies indicate that serotonin 2C receptor (5HT2C) is involved in the pharmacodynamic process of serotonin dopamine antagonists (SDA)-induced weight gain. Controversial data have been reported on the association between the polymorphisms of 5HT2C receptor gene and antipsychotics-induced weight gain. This study aims at investigating the association between the polymorphisms of 5HT2C receptor gene and SDA-induced weight gain in korean schizophrenic patients. METHODS: Seventy-seven schizophrenia patients in their first episode or patients who did not take any antipsychotics for the previous two months were recruited. All the patients were administered with one of the SDAs (risperidone, olanzapine, quetiapine, clozapine) for 8weeks. Body mass index (BMI) were measured weekly during the 8weeks. The subjects were genotyped for the -759 C/T and -697 G/C polymorphism of the 5HT2C receptor gene. RESULTS: The degree of linkage disequilibrium between the two polymorphic loci genotyped are almost 100%. Significant association was not observed between polymorphisms of the 5HT2C receptor gene (-759 C/T and -697 G/C) and SDA-induced weight gain after 8 weeks of treatment. CONCLUSION: Our data do not support the involvement of the polymorphisms of 5HT2C receptor gene (-759 C/T and -697 G/C) in SDA- induced weight gain. Further studies with sufficient sample size are warranted to follow up on the trend of high weight gain in the male patients having -759 T (-697 C) allele.
Alleles ; Animals ; Antipsychotic Agents ; Body Mass Index ; Dopamine Antagonists ; Dopamine* ; Follow-Up Studies ; Humans ; Linkage Disequilibrium ; Male ; Receptor, Serotonin, 5-HT2C ; Sample Size ; Schizophrenia* ; Serotonin* ; Weight Gain* ; Quetiapine Fumarate

Colonic varix, which is a rare cause of lower gastrointestinal bleeding, can be developed by various diseases. Colonic variceal bleeding is more fatal than esophageal variceal bleeding. Klippel-Trenaunay-Weber syndrome is a rare congenital vascular malformation characterized by the clinical triad of bony or soft tissue hypertrophy, hemangioma and varicosities or vascular malformations. We report a 42-year-old female patient with fatal sigmoid variceal bleeding. She had dilated vessels over her body and face, and both superior and inferior vena cava were obstructed. She underwent an emergent operation due to uncontrolled massive bleeding from sigmoid varices. We report a case of Klippel-Trenaunay-Weber syndrome with literature review.
Adult ; Colon ; Colon, Sigmoid* ; Esophageal and Gastric Varices ; Female ; Hemangioma ; Hemorrhage ; Humans ; Hypertrophy ; Klippel-Trenaunay-Weber Syndrome* ; Varicose Veins* ; Vascular Malformations ; Vena Cava, Inferior

PURPOSE: Childhood acute immune thrombocytopenic purpura (ITP) is a benign hematologic disease. Therapy does not affect the natural history of the illness. We evaluated the clinical and laboratory findings, treatment and prognosis of childhood acute ITP in Korea through a retrospective multicenter study. METHODS: We analyzed retrospectively the data of 1, 829 children with acute ITP through survey of 33 hospitals among 43 hospitals in Korea from Sep. 1992 to Aug. 2001. RESULTS: Male to female ratio was 1.3: 1 and the median age at the diagnosis of ITP was 2.9 (0.1 17) years. Median duration of follow up was 6 months. One hundred and forty nine cases of the total 1, 829 patients (8.1%) received no treatment. The initial median platelet count of the non-treated group was 42, 500/mm3. Among the 861 cases who were followed up over 6 months, 315 cases (36.6%) progressed into chronic ITP. Associated with this high rate of chronicity of childhood acute ITP patients in Korea, we must consider the fact that acute ITP patients with fast improvement in the first episode tend not to follow up. Considering that fact, the rate of chronicity becomes 17.2% of the 1, 829 acute ITP patients. The treated group used many kinds of treatment methods. Intravenous immunoglobulins (IVIG) with or without prednisolone (PD) (67.5%) were the most commonly used regimens. In the group treated with IVIG alone, the platelet count began to rise above 50, 000/mm3 at 2.6 days, 100, 000/mm3 at 3.7 days and 150, 000/mm3 at 4.9 days. Four hundred and twenty two cases of the 1, 686 (25.0%) cases followed up after first episode of ITP relapsed. The relapse rate was significantly higher in older patients and in girls than in younger patients and in boys (P< 0.05). The chronicity of ITP statistically increased with age (P< 0.05) and that was the only valuable factor. CONCLUSION: Despite the fact that childhood acute ITP is a pretty common disaese, there is no agreement on the best treatment method for this disease. The establishment of Korean treatment guideline of childhood acute ITP, based on an analysis of multicenters, seems to be needed.
Child ; Diagnosis ; Female ; Follow-Up Studies ; Hematologic Diseases ; Humans ; Immunoglobulins, Intravenous ; Korea* ; Male ; Natural History ; Platelet Count ; Prednisolone ; Prognosis ; Purpura, Thrombocytopenic, Idiopathic* ; Recurrence ; Retrospective Studies