Despite improvements in therapy, cases in which relapse occurs are still common in children with acute lymphoblastic leukemia (ALL). Most relapses occur in the bone marrow, and extramedullary relapse is most commonly in the central nerve system. Soft tissue mass lesion or spinal cord involvement is extremely unusual in ALL relapse. We experienced a 13-year-old boy who presented with extremity weakness and pain. He was diagnosed with ALL 4 years ago and achieved complete remission after systemic chemotherapy. Imaging study revealed a paraspinal mass which was invading the S1-2 vertebral body. Histopathologic examination revealed infiltrates composed of immature lymphoblasts with morphology identical with that of initially diagnosed bone marrow aspiration. Studies on bone marrow were negative for disease at this time. He was treated with irradiation and intrathecal chemotherapy, in addition to systemic chemotherapy. The mass has nearly disappeared, and he is planned for allogeneic bone marrow transplantation.
Adolescent ; Bone Marrow ; Bone Marrow Transplantation ; Child ; Drug Therapy ; Extremities ; Humans ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Recurrence* ; Spinal Cord

Extramedullary relapse of childhood acute lymphoblastic leukemia (ALL) occurs most commonly in the central nervous system or in the testes. Isolated relapse on chest wall as a soft tissue mass is extremely rare in children with ALL. We experenced a 12-year-old girl who developed an isolated relapse on chest wall during the treatment for ALL. She had a pain and protruding mass on right anterior chest wall 6 months after the initial diagnosis of ALL. Imaging study revealed an 5 7 cm sized soft tissue mass on the right chest wall. Histopathologic examination revealed infiltrates composed of immature lymphoblasts with morphology identical with that of previous bone marrow aspiration. Studies on bone marrow and cerebrospinal fluid were negative for disease at this time. The patient was treated with 3,000 cGy of local irradiation in 10 fractions and systemic chemotherapy with ifosfamide and etoposide. The mass size decreased markedly, but she has been suffering from development of multiple mass in other site and recurrent pleural effusion.
Bone Marrow ; Central Nervous System ; Cerebrospinal Fluid ; Child ; Diagnosis ; Drug Therapy ; Etoposide ; Female ; Humans ; Ifosfamide ; Pleural Effusion ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Recurrence* ; Testis ; Thoracic Wall* ; Thorax*

Various adverse events have been reported during combination therapy with pegylated (PEG)-interferon-alpha and ribavirin, although opportunistic infections, especially cryptococcal meningitis, are very rare. A 61-year-old woman complained of headaches and a fever during treatment of a chronic hepatitis C virus (HCV) infection. She had been treated for 7 months. Her headaches were refractory to analgesics, and she developed subtle nuchal rigidity. The cerebral spinal fluid (CSF) revealed a white blood cell count of 205/mm3, 51 mg/dL protein, 35 mg/dL glucose, and negative Cryptococcus antigen. The CSF culture resulted in no growth. Five days later, the CSF was positive for Cryptococcus antigen. We administered amphotericin B and flucytosine, followed by fluconazole. Approximately 2 months later, she was discharged. For the first time, we report a case of cryptococcal meningitis during the treatment of chronic HCV with PEG-interferon-alpha and ribavirin.
Antifungal Agents/therapeutic use ; Antiviral Agents/*adverse effects ; Cryptococcus neoformans/immunology/*pathogenicity ; Drug Therapy, Combination ; Female ; Hepatitis C, Chronic/diagnosis/*drug therapy/immunology ; Humans ; Immunocompromised Host ; Interferon-alpha/*adverse effects ; Meningitis, Cryptococcal/drug therapy/immunology/*microbiology ; Middle Aged ; Opportunistic Infections/diagnosis/drug therapy/immunology/*microbiology ; Polyethylene Glycols/*adverse effects ; Recombinant Proteins/adverse effects ; Ribavirin/*adverse effects ; Time Factors ; Treatment Outcome

BACKGROUND: Restrictive left ventricular (LV) filling patterns after acute myocardial infarction (AMI) predict poor prognosis. Doppler indexes of LV inflow, especially peak velocity ratio of early versus late diastolic flow (E/A) and deceleration time, can predict heart failure or death. Doppler indexes of pulmonary venous flow are also used to diagnose restrictive LV filling, but their prognostic values after AMI are not known. METHODS: Doppler echocardiographic examination were performed in patients with AMI (n=122) between 7 to 10 days after attack, and followed for 30 months. Death group included 9 deaths (7.4%) during follow-up. 18 age-matched patients (control group) were selected from 70 patients without death, heart failure or readmission. Doppler echocardiographic indexes of peak systolic velocity (SV), peak diastolic velocity (DV), and peak reverse flow velocity associated with atrial contraction (AR) of pulmonary venous flow were measured by transthoracic echocardiography. RESULTS: Death group had lower SV (46.1+/-6.3 vs 57.0+/-14.7 cm/sec; p=0.059) and SV/DV ratio (1.26+/-0.50 vs 1.58+/-0.37; p=0.076). Death group had significantly more patients with SV/DV ratio less than 1.3 (67% vs 17%; p=0.026). AR was significantly different between death and control groups (29.7+/-7.8 vs 24.7+/-6.8 cm/sec; p=0.023). Death group had significantly more patients with AR greater than 25 (78% vs 33%; p=0.046). CONCLUSION: SV/DV ratio and AR of pulmonary venous flow predicted death after AMI.
Deceleration ; Echocardiography ; Echocardiography, Doppler ; Follow-Up Studies ; Heart Failure ; Humans ; Myocardial Infarction* ; Prognosis

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*

PURPOSE: Topical calcineurin inhibitor is recently developed topical immunomodulator, and preliminary studies showed its effectiveness in the treatment of atopic dermatitis (AD). However, some side effects including transient irritation can influence the patient compliance. So, there are some needs to improve the patient compliance. The purpose of this study was to evaluate the efficacy, safety and patient compliance with using topical tacrolimus 0.1% to treat AD when the correct information about topical tacrolimus are properly given to patients. METHODS: We examined the medical recordings, clinical severity scoring of total 194 AD patients at 9 general hospitals in Seoul, Korea from September 2010 to August 2011. We offered an infosheet of topical tacrolimus 0.1% and the patients applied it twice a day for 2 weeks. And we measured the efficacy of the topical tacrolimus 0.1% with SCORing atopic dermatitis (SCORAD) index, patient's global assessment (PGA), and investigator's global assessment (IGA). RESULTS: Topical tacrolimus 0.1% effectively controlled AD with a reduction of the SCORAD index from baseline 31.9 to 20.2 at 2 weeks of application. In IGA results showed 98% got improvement and in PGA, results showed 96% got improvement after treatment. Although 42.3% of the patients complained of adverse effects, these were all transient. The effect of information on topical tacrolimus 0.1% showed 34% patients could predict the side effect, 35% patients could feel safety to use, and 18% patients experienced side effect but could maintain topical calcineurin inhibitor. CONCLUSION: Topical tacrolimus 0.1% may be an effective treatment modality for AD when patients show good compliance for applying the ointment. And properly given, the correct information may increase the patient compliance.
Calcineurin ; Compliance ; Dermatitis, Atopic ; Hospitals, General ; Humans ; Immunoglobulin A ; Korea ; Medical Records ; Patient Compliance ; Prostaglandins A ; Tacrolimus

The primary objective of initial treatment for thyroid cancer is minimizing treatment-related side effects and unnecessary interventions while improving patients’ overall and disease-specific survival rates, reducing the risk of disease persistence or recurrence, and conducting accurate staging and recurrence risk analysis. Appropriate surgical treatment is the most important requirement for this purpose, and additional treatments including radioactive iodine therapy and thyroid-stimulating hormone suppression therapy are performed depending on the patients’ staging and recurrence risk. Diagnostic surgery may be considered when repeated pathologic tests yield nondiagnostic results (Bethesda category 1) or atypia of unknown significance (Bethesda category 3), depending on clinical risk factors, nodule size, ultrasound findings, and patient preference. If a follicular neoplasm (Bethesda category 4) is diagnosed pathologically, surgery is the preferred option. For suspicious papillary carcinoma (suspicious for malignancy, Bethesda category 5), surgery is considered similar to a diagnosis of malignancy (Bethesda category 6). As for the extent of surgery, if the cancer is ≤1 cm in size and clinically free of extrathyroidal extension (ETE) (cT1a), without evidence of cervical lymph node (LN) metastasis (cN0), and without obvious reason to resect the contralateral lobe, a lobectomy can be performed. If the cancer is 1-2 cm in size, clinically free of ETE (cT1b), and without evidence of cervical LN metastasis (cN0), lobectomy is the preferred option. For patients with clinically evident ETE to major organs (cT4) or with cervical LN metastasis (cN1) or distant metastasis (M1), regardless of the cancer size, total thyroidectomy and complete cancer removal should be performed at the time of initial surgery. Active surveillance may be considered for adult patients diagnosed with low-risk thyroid papillary microcarcinoma. Endoscopic and robotic thyroidectomy may be performed for low-risk differentiated thyroid cancer when indicated, based on patient preference.

Differentiated thyroid cancer demonstrates a wide range of clinical presentations, from very indolent cases to those with an aggressive prognosis. Therefore, diagnosing and treating each cancer appropriately based on its risk status is important. The Korean Thyroid Association (KTA) has provided and amended the clinical guidelines for thyroid cancer management since 2007. The main changes in this revised 2024 guideline include 1) individualization of surgical extent according to pathological tests and clinical findings, 2) application of active surveillance in low-risk papillary thyroid microcarcinoma, 3) indications for minimally invasive surgery, 4) adoption of World Health Organization pathological diagnostic criteria and definition of terminology in Korean, 5) update on literature evidence of recurrence risk for initial risk stratification, 6) addition of the role of molecular testing, 7) addition of definition of initial risk stratification and targeting thyroid stimulating hormone (TSH) concentrations according to ongoing risk stratification (ORS), 8) addition of treatment of perioperative hypoparathyroidism, 9) update on systemic chemotherapy, and 10) addition of treatment for pediatric patients with thyroid cancer.

PURPOSE: The information committee of the Korean Society for Metabolic and Bariatric Surgery (KSMBS) performed the nationwide survey of bariatric and metabolic operations to report IFSO (International Federation for the Surgery of Obesity and Metabolic Disorders) worldwide survey annually. This study aimed to report the trends of bariatric and metabolic surgery in Korea in 2014–2017. MATERIALS AND METHODS: We analyzed the accumulated nationwide survey data conducted for annual ISFO survey from 2014 to 2017. Trends such as the number of operations by hospital type and the number of operations by surgical method were analyzed. RESULTS: The number of operations has decreased sharply in 2015 comparing to 2014 (913⇒550). The number of operations performed in private hospitals dropped sharply from 529 to 250, 198, and 103 cases. The number of revisional surgeries increased to 223 in 2015. The primary surgery number fell from 757 in 2014 to 327 in 2015. In primary surgery, sleeve gastrectomy was gradually increased from 2014 to 143 (18.9%), 105 (32.1%), 167 (47.2%) and 200 (56.3%) and became the most frequently performed surgery. On the other hand, the incidence of adjustable gastric band decreased gradually from 439 (58.0%) to 117 (35.8%), 112 (31.6%) and 59 (16.6%). CONCLUSION: The overall number of obesity metabolic operations has decreased since 2014, especially the number of adjustable gastric band, and the number of operations in private hospitals declined sharply. On the other hand, the number of operations in university hospitals did not change much, and the number of sleeve gastrectomy increased.
Bariatric Surgery ; Gastrectomy ; Hand ; Hospitals, Private ; Hospitals, University ; Incidence ; Korea ; Methods ; Obesity