Eosinophilic granuloma of the lung, first described by Farrinaci et al. in 1951, is rare. A 35-year-old male smoker presented with recurrent pneumothorax. Open thoracotomy with bleb resection and biopsy was performed. Microscopically there was histological changes consistent with typical eosinophilic granuloma and intertitial fibrosis. The Langerhans cells showed positive reaction for S-100 protein and typical Birbeck granules in their cytoplasm. A brief summary of histopathological aspect of this disease and a review of literature are presented.
Male ; Humans ; Biopsy

Hemoglobin M (HbM) is a group of abnormal hemoglobin variants that form methemoglobin, which leads to cyanosis and hemolytic anemia. HbM-Milwaukee-2 is a rare variant caused by the point mutation CAC>TAC on codon 93 of the hemoglobin subunit beta (HBB) gene, resulting in the replacement of histidine by tyrosine. We here report the first Korean family with HbM-Milwaukee-2, whose diagnosis was confirmed by gene sequencing. A high index of suspicion for this rare Hb variant is necessary in a patient presenting with cyanosis since childhood, along with methemoglobinemia and a family history of cyanosis.

Hepatic osteodystrophy is frequent complication in patients with chronic liver disease, particularly with chronic cholestasis. We report a male infant with congenital hepatoblastoma, who had osteodystrophy complicated by multiple bone fractures despite adequate supplementation of fat-soluble vitamins including vitamin D. He was born by Caesarean section because of a 7 cm–sized abdominal mass detected by prenatal ultrasonography. The pathologic diagnosis was hepatoblastoma, PRETEXT staging III or IV. Whole body bone scan at the time of diagnosis showed no abnormal uptake. Oral vitamin D3 of 2,000 IU/day was administered with other fat-soluble vitamins. Serum direct bilirubin level gradually increased up to 28.9 mg/dL at postnatal 6 days and was above 5 mg/dL until 110 days of age. Bony changes consistent with rickets became apparent in left proximal humerus since 48 days of age, and multiple bone fractures developed thereafter. With resolving cholestasis by chemotherapy, his bony lesions improved gradually after add-on treatment of bisphosphonate and parenteral administration of vitamin D with calcium. High level of suspicion and prevention of osteodystrophy is needed in patients with hepatoblastoma, especially when cholestasis persists.
Bilirubin ; Calcium ; Cesarean Section ; Cholecalciferol ; Cholestasis ; Diagnosis ; Drug Therapy ; Female ; Fractures, Bone ; Hepatoblastoma ; Humans ; Humerus ; Infant ; Liver Diseases ; Male ; Pregnancy ; Rickets ; Ultrasonography, Prenatal ; Vitamin D ; Vitamins

Background: Nine years have passed since the Journal of Bone Metabolism (JBM) was launched as an English journal in 2012; it was finally included in Scopus in January 2019. Therefore, this study aimed to provide evidence of increased international recognition based on journal metrics and reflect on its efforts to be recognized as a top-notch journal. Methods: Databases, such as the Web of Science (WoS), Scopus, Korean Citation Index (KCI), and citation indicators, including the impact factor (IF) and SCImago journal rank (SJR) were reviewed and calculated according to years, and the results were drawn. Furthermore, country-wise contributions and top-cited articles were also investigated. Results: The JBM 2020 IF was 2.17 in the WoS. The 2020 SJR in Scopus was 0.334, with a ranking of 165/219 (75.3%) in the Endocrinology, Diabetes, and Metabolism category. The 2020 KCI was 0.42. Of 263 articles, 260 were citable (98.9%), and of 176 original articles, 15 (8.5%) were supported by research grants. The total citation of JBM has increased from 16 in 2014 to 141 in 2020; however, its KCI remained stationary from 0.29 in 2015 to 0.42 in 2020. Conclusions Currently, JBM is increasingly cited by international researchers than Korean researchers, indicating that the journal’s content is valued at an international level. Its inclusion in PubMed Central appears to have increased its international relevance; however, publishing English-only articles may hinder its use domestically. Therefore, efforts should be made to increase citation rates and enhance domestic readership.

Background: Nine years have passed since the Journal of Bone Metabolism (JBM) was launched as an English journal in 2012; it was finally included in Scopus in January 2019. Therefore, this study aimed to provide evidence of increased international recognition based on journal metrics and reflect on its efforts to be recognized as a top-notch journal. Methods: Databases, such as the Web of Science (WoS), Scopus, Korean Citation Index (KCI), and citation indicators, including the impact factor (IF) and SCImago journal rank (SJR) were reviewed and calculated according to years, and the results were drawn. Furthermore, country-wise contributions and top-cited articles were also investigated. Results: The JBM 2020 IF was 2.17 in the WoS. The 2020 SJR in Scopus was 0.334, with a ranking of 165/219 (75.3%) in the Endocrinology, Diabetes, and Metabolism category. The 2020 KCI was 0.42. Of 263 articles, 260 were citable (98.9%), and of 176 original articles, 15 (8.5%) were supported by research grants. The total citation of JBM has increased from 16 in 2014 to 141 in 2020; however, its KCI remained stationary from 0.29 in 2015 to 0.42 in 2020. Conclusions Currently, JBM is increasingly cited by international researchers than Korean researchers, indicating that the journal’s content is valued at an international level. Its inclusion in PubMed Central appears to have increased its international relevance; however, publishing English-only articles may hinder its use domestically. Therefore, efforts should be made to increase citation rates and enhance domestic readership.

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.
Asian Continental Ancestry Group ; Atrophy ; Brain ; Ceroid ; Child ; Female ; Humans ; Lysosomes ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neurodegenerative Diseases ; Neuronal Ceroid-Lipofuscinoses ; Neurons ; Seizures ; Vision Disorders

Korean undergraduate students attempt to lose weight but often fail due to utilizing ineffective weight loss strategies. Some diet programs have succeeded, yet, they have not provided adequate skills for long-term weight maintenance. The aim of the study was to determine the effect of a low calorie diet and exercise with nutritional education on weight loss, serum lipid profiles, nutrient intakes, and dietary behavior modification in overweight and obese undergraduate students. The subjects in the low calorie diet group (LCD; n = 12) and the low calorie diet plus exercise group (LCDE; n = 13) had the same goal of losing 4 kg during a 12 week program. Nutrient intakes were assessed by the 24 hour recall method. Also, food habits and dietary behaviors were investigated by self-administered questionnaires before and after the weight control program and one month after completing the program. LCD and LCDE groups lowered body weight by 2 kg and 1 kg, respectively, although they decreased calorie intake by 355 and 287 kcal per day compared to intakes prior to the study. Body fat mass decreased in both the LCD and LCDE groups; however, the decrease was greater in the LCDE group. In addition, only the LCDE group increased muscle mass. The LCD group had a slightly better effect in reducing body weight, body fat, and waist circumference than the LCDE group. However, their decrease was reversed after the mid-study check in the LCD group; the reduction was better maintained and decreased more in the LCDE group. However, serum lipid profiles were already in borderline prior to the study; moreover, they were not modified after losing weight. The dietary behavior program helped students to develop better dietary habits. In conclusion, the combination of a low calorie diet and exercise is necessary in order to maintain longer weight loss by increasing muscle mass and decreasing body fat.
Adipose Tissue ; Behavior Therapy ; Body Weight ; Caloric Restriction ; Diet ; Food Habits ; Humans ; Muscles ; Overweight ; Surveys and Questionnaires ; Waist Circumference ; Weight Loss

BACKGROUND: This study aimed to assess the outcome of stem cell transplantation (SCT), including overall survival (OS), failure-free survival (FFS) and graft-versus-host disease (GvHD)-free/failure-free survival (GFFS), and to analyze prognostic factors in children with aplastic anemia (AA).METHODS: From 1991 to 2018, 43 allogeneic SCT recipients were enrolled in the study to investigate the demographic characteristics, survival outcomes and prognostic factors.RESULTS: With the median follow-up of 7.1 years, the estimated 10-year OS, FFS, GFFS were 86.0%, 60.5%, and 51.2%, respectively. Matched related donors (MRD, n = 28) showed better 10-year OS than unrelated donors (n = 15) (96.4% vs. 66.7%; P = 0.006). Engraftment failure was seen in 13 patients (30.2%). Donor-type aplasia was seen in 13.8% (4/29) after fludarabine (Flu)-based conditioning (Flu-group), while in 42.6% (6/14) after cyclophosphamide (Cy)-based regimen (Cy-group) (P = 0.035). Six patients died. The 10-year OS in Cy-group was 92.9% (n = 14, all MRD), while that of Flu-group was 82.1% (n = 29; P = 0.367). But Flu-group tended to have better FFS and GFFS than Cy-group, although Flu-group had less MRDs (41.4% vs. 100%; P = 0.019), and higher proportion of previous immunosuppressive treatment (IST; 62% vs. 21.4%, P = 0.012). In MRD transplants, OS was similar between Flu-group (100%, n = 14) and Cy-group (92.9%, n = 14), while FFS (100.0% vs. 42.9%; P = 0.001) and GFFS (85.7% vs. 35.7%; P = 0.006) were significantly better in Flu-group. Stem cell sources, irradiation in the conditioning, and method of GvHD prophylaxis did not significantly influence the outcome.CONCLUSION: This study reviewed SCT outcomes for pediatric AA with changes of transplant strategies over the last 25 years. The FFS and GFFS were higher in Flu-group than in Cy-group, especially in matched related transplantation. Graft failure including donor-type aplasia remains troublesome even with Flu-based conditioning. Further refinement of transplant strategies to ensure better quality-of-life should be pursued.
Anemia, Aplastic ; Child ; Cyclophosphamide ; Follow-Up Studies ; Graft vs Host Disease ; Humans ; Methods ; Stem Cell Transplantation ; Stem Cells ; Tissue Donors ; Transplants ; Unrelated Donors

BACKGROUND: This study aimed to assess the outcome of stem cell transplantation (SCT), including overall survival (OS), failure-free survival (FFS) and graft-versus-host disease (GvHD)-free/failure-free survival (GFFS), and to analyze prognostic factors in children with aplastic anemia (AA). METHODS: From 1991 to 2018, 43 allogeneic SCT recipients were enrolled in the study to investigate the demographic characteristics, survival outcomes and prognostic factors. RESULTS: With the median follow-up of 7.1 years, the estimated 10-year OS, FFS, GFFS were 86.0%, 60.5%, and 51.2%, respectively. Matched related donors (MRD, n = 28) showed better 10-year OS than unrelated donors (n = 15) (96.4% vs. 66.7%; P = 0.006). Engraftment failure was seen in 13 patients (30.2%). Donor-type aplasia was seen in 13.8% (4/29) after fludarabine (Flu)-based conditioning (Flu-group), while in 42.6% (6/14) after cyclophosphamide (Cy)-based regimen (Cy-group) (P = 0.035). Six patients died. The 10-year OS in Cy-group was 92.9% (n = 14, all MRD), while that of Flu-group was 82.1% (n = 29; P = 0.367). But Flu-group tended to have better FFS and GFFS than Cy-group, although Flu-group had less MRDs (41.4% vs. 100%; P = 0.019), and higher proportion of previous immunosuppressive treatment (IST; 62% vs. 21.4%, P = 0.012). In MRD transplants, OS was similar between Flu-group (100%, n = 14) and Cy-group (92.9%, n = 14), while FFS (100.0% vs. 42.9%; P = 0.001) and GFFS (85.7% vs. 35.7%; P = 0.006) were significantly better in Flu-group. Stem cell sources, irradiation in the conditioning, and method of GvHD prophylaxis did not significantly influence the outcome. CONCLUSION This study reviewed SCT outcomes for pediatric AA with changes of transplant strategies over the last 25 years. The FFS and GFFS were higher in Flu-group than in Cy-group, especially in matched related transplantation. Graft failure including donor-type aplasia remains troublesome even with Flu-based conditioning. Further refinement of transplant strategies to ensure better quality-of-life should be pursued.

BACKGROUND: It is well established that vascular contraction is caused by not only an increase in cytosolic Ca2+ level but also activations of Ca2+-sensitizing mechanisms including protein kinase C (PKC) and low molecular GTP binding protein. However, the roles of PKC and RhoA, a low molecular GTP-binding protein, on the receptor agonist-mediated contraction in swine pulmonary artery has not been clarified. In the present study, we examined the contribution of PKC isoform and RhoA to the arterial stimulants-induced contraction in swine pulmonary artery. METHOD: The large (> 5 mm), medium (1-3 mm) and small (< 1 mm in outer diameter) sized pulmonary arteries were excised and the contractions were recorded isometrically. The contents and subcellular distribution of PKC isoforms and RhoA were detected using immunoblotting. RESULTS: In medium pulmonary artery, norepinephrine (NE, 10 nM-30micrometer) led contraction in a dose-dependent manner. In large and small pulmonary arteries, however, NE failed to induce a contraction. Adding of 12-deoxyphorbol 13-isobutyrate (DPB, 1micrometer), a PKC activator, developed muscle force in 1 mM EGTA-contained Ca2+-free physiological salt solution. The expressions of PKC alpha, elsilon were significantly increased in medium pulmonary artery. NE (10micrometer) evoked the translocation of RhoA from cytosol to the membrane but not those of PKC isoforms. In Ca2+-free physiological salt solution, DPB (1micrometer) caused a translocation of PKC isoforms. CONCLUSIONS: These results support that NE induces contraction via RhoA pathway but not PKC pathway in swine pulmonary artery.
Cytosol ; GTP Phosphohydrolases* ; GTP-Binding Proteins ; Immunoblotting ; Membranes ; Norepinephrine ; Protein Isoforms ; Protein Kinase C* ; Protein Kinases* ; Pulmonary Artery* ; Swine*