Kabuki make-up syndrome (KMS) was firstly reported in 1981 by Niikawa, et al. and Kuroki et al. in a total of ten unrelated Japanese children with characteristic array of multiple congenital anomalies and mental retardation. The name reflects the resemblance between the facial features of patients and the actors of Kabuki, one of the most famous traditional performing arts in Japan. The syndrome is characterized by mental and developmental retardations and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. In Japan, the syndrome appears to have an incidence of about 1 : 32,000 newborns. Outside of Japan, a growing number of patients have been recognized. However, this syndrome has been reported only a few cases in Korea. We report a boy diagnosed by clinical features with a brief review of the literature.
Asian Continental Ancestry Group ; Child ; Dermatoglyphics ; Eyebrows ; Eyelids ; Humans ; Incidence ; Infant, Newborn ; Intellectual Disability ; Japan ; Korea ; Male

OBJECTIVES: To evaluate the association between secondhand smoke exposure (SHSE) and mental health problems among Korean adults. METHODS: We analyzed data from the 2011 Korean Community Health Survey. From the total of 229,226 participants aged 19 years or above, we excluded 48,679 current smokers, 36,612 former smokers, 3,036 participants with a history of stroke, 2,264 participants with a history of myocardial infarction, 14,115 participants who experienced at least one day in bed per month due to disability, and 855 participants for whom information regarding SHSE or mental health problems was not available. The final analysis was performed with 22,818 men and 100,847 women. Participants were classified into four groups according to the duration of SHSE: none, <1 hr/d, 1-<3 hr/d, and ≥3 hr/d. The presence of depressive symptoms, diagnosed depression, and high stress were measured by questionnaire. RESULTS: After adjusting for demographic factors, lifestyle, and chronic disease, the odds ratio (OR) and 95% confidence interval (CI) of depressive symptoms with 1-<3 hr/d and ≥3 hr/d SHSE were 1.44 (95% CI, 1.14 to 1.82) and 1.59 (95% CI, 1.46 to 1.74), respectively. However, SHSE ≥3 hr/d had a higher OR of 1.37 (95% CI, 1.20 to 1.58) for diagnosed depression. SHSE was also associated with high stress (1-<3 hr/d: OR, 1.56; 95% CI, 1.38 to 1.76; ≥3 hr/d: OR, 1.33 95% CI, 1.28 to 1.40). However, the association between SHSE and symptoms of depression and stress did not differ significantly by region. CONCLUSIONS: SHSE may be associated with mental health problems such as depression and stress in Korean adults.
Adult* ; Chronic Disease ; Demography ; Depression ; Female ; Health Surveys ; Humans ; Life Style ; Male ; Mental Health* ; Myocardial Infarction ; Odds Ratio ; Stroke ; Tobacco Smoke Pollution*

BACKGROUND: Robotic surgery is an alternative to minimally invasive surgery. The aim of this study was to report on current trends in robotic thoracic and cardiovascular surgical techniques in Korea. METHODS: Data from the National Evidence-based Healthcare Collaborating Agency (NECA) between January 2006 and June 2012 were used in this study, including a total of 932 cases of robotic surgeries reported to NECA. The annual trends in the case volume, indications for robotic surgery, and distribution by hospitals and surgeons were analyzed in this study. RESULTS: Of the 932 cases, 591 (63%) were thoracic operations and 340 (37%) were cardiac operations. The case number increased explosively in 2007 and 2008. However, the rate of increase regained a steady state after 2011. The main indications for robotic thoracic surgery were pulmonary disease (n=271, 46%), esophageal disease (n=199, 34%), and mediastinal disease (n=117, 20%). The main indications for robotic cardiac surgery were valvular heart disease (n=228, 67%), atrial septal defect (n=79, 23%), and cardiac myxoma (n=27, 8%). Robotic thoracic and cardiovascular surgeries were performed in 19 hospitals. Three large volume hospitals performed 94% of the case volume of robotic cardiac surgery and 74% of robotic thoracic surgery. Centralization of robotic operation was significantly (p<0.0001) more common in cardiac surgery than in thoracic surgery. A total of 39 surgeons performed robotic surgeries. However, only 27% of cardiac surgeons and 23% of thoracic surgeons performed more than 10 cases of robotic surgery. CONCLUSION: Trend analysis of robotic and cardiovascular operations demonstrated a gradual increase in the surgical volume in Korea. Meanwhile, centralization of surgical cases toward specific surgeons in specific hospitals was observed.
Adenosine-5'-(N-ethylcarboxamide) ; Delivery of Health Care ; Esophageal Diseases ; Heart Septal Defects, Atrial ; Heart Valve Diseases ; Korea* ; Lung Diseases ; Mediastinal Diseases ; Myxoma ; Robotics ; Surgical Procedures, Minimally Invasive ; Thoracic Surgery

Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder characterised by a variety of different tumor types in children and young adults. That contains with a germline mutation in the tumor suppressor gene Tumor Protein p53 (TP53). That is extremely rare. Furthermore, this is sometimes overlooked. Here, we report a case of LFS which was confirmed by mutational analysis of the p53 gene. Also, literature review is intended to improve understanding of this disease entity.
Adenocarcinoma* ; Child ; Genes, p53 ; Genes, Tumor Suppressor ; Germ-Line Mutation ; Humans ; Li-Fraumeni Syndrome* ; Lung* ; Osteosarcoma* ; Young Adult

Pneumocystis carinii pneumonia(PCP) remains the leading cause of death in patients with AIDS. Although the most common radiographic presentation of PCP is the developme-nt of diffuse, bilateral interstitial or alveolar infiltrates in 48 to 86 per cent of AIDS patients, PCP may also present with either a completely normal or only minimally abnormal chest radiograph in 6 to 23 per cent of patients. We experienced two patients with AIDS presenting high fever and chest pain but normal chest radiograph, who had been proved to have PCP by bronchoalveolar lavage and trans-bronchial lung biopsy.
Biopsy ; Bronchoalveolar Lavage ; Bronchoscopy ; Cause of Death ; Chest Pain ; Fever ; Humans ; Lung ; Pneumocystis carinii ; Pneumonia* ; Radiography, Thoracic ; Thorax*

Background: The inflation-deflation (ID) method has long been the standard for intraoperative margin assessment in segmentectomy. However, with advancements in vision technology, the use of near-infrared mapping with indocyanine green (ICG) has become increasingly common. This study was conducted to compare the perioperative outcomes and resection margins achieved using these methods. Methods: This retrospective study included patients who underwent direct segmentectomy for clinical stage I lung cancer between January 2018 and September 2022. We compared perioperative factors, including bronchial and parenchymal resection margins, according to the margin assessment method and the type of segmentectomy performed.Since the ICG approach was adopted in April 2021, we also examined a recent subgroup of patients treated from then onward. Results: A total of 319 segmentectomies were performed. ID and ICG were utilized for 261 (81.8%) and 58 (18.2%) patients, respectively. Following April 2021, 61 patients (51.3%) were treated with ID, while 58 (48.7%) received ICG. We observed no significant difference in resection margins between ID and ICG for bronchial (2.7 cm vs. 2.3 cm, p=0.07) or parenchymal (2.5 cm vs. 2.3 cm, p=0.46) margins. Additionally, the length of hospitalization and the complication rate were comparable between groups. Analysis of the recent subgroup confirmed these findings, showing no significant differences in resection margins (bronchial: 2.6 cm vs. 2.3 cm, p=0.25; parenchymal: 2.4 cm vs. 2.3 cm, p=0.75), length of hospitalization, or complication rate. Conclusion The perioperative outcomes and resection margins achieved using ID and ICG were comparable, suggesting that both methods can safely guide segmentectomy procedures.

BACKGROUND: The aim of this study was to assess the results of using the Ilizarov apparatus to transport bones in the treatment of benign bone tumors. METHODS: Seven patients (six males and one female) with benign bone tumors were treated by bone transport with an Ilizarov apparatus at our institution. Their mean age at surgery was 14.4 years (range, 4.8 to 36.9 years). The histological diagnoses were osteofibrous dysplasia (4), giant-cell tumor (1), intraosseous cavernous hemangioma (1), and aneurysmal bone cyst (1). Three radiological indices were used for evaluating the results: an external fixation index, a distraction index, and a maturation index. The bone and functional results were evaluated according to the Association for the Study and Application of the Method of Ilizarov classification. RESULTS: Five patients had bone union at the reconstructed site, one patient had a local recurrence, and the other had a nonunion at the docking site. The mean length of distraction was 7.3 cm (range, 5.1 to 12.1 cm). The mean external fixation index was 26.0 day/cm (range, 19.8 to 32.5 day/cm), the distraction index was 9.6 day/cm (range, 6.8 to 12.0 day/cm), and the maturation index was 14.9 day/cm (range, 8.0 to 22.5 day/cm). Ultimately, the bone and the functional results were rated excellent in six cases and good in one case. CONCLUSIONS: Bone transport using the Ilizarov apparatus is a good treatment option in patients with bone defects after the resection of an active or aggressive benign bone tumor.
Adolescent ; Adult ; Bone Neoplasms/*surgery ; Child ; Child, Preschool ; Female ; Humans ; Ilizarov Technique/*instrumentation ; Male ; Young Adult

Mice deficient in the toll-like receptor (TLR) or the myeloid differentiation factor 88 (MyD88) are resistant to acute liver failure (ALF) with sudden death of hepatocytes. Chalcone derivatives from medicinal plants protect from hepatic damages including ALF, but their mechanisms remain to be clarified. Here, we focused on molecular basis of piperidylmethyloxychalcone (PMOC) in the treatment of TLR/MyD88-associated ALF. C57BL/6J mice were sensitized with D-galactosamine (GalN) and challenged with Escherichia coli lipopolysaccharide (LPS, TLR4 agonist) or oligodeoxynucleotide containing unmethylated CpG motif (CpG ODN, TLR9 agonist) for induction of ALF. Post treatment with PMOC sequentially ameliorated hepatic inflammation, apoptosis of hepatocytes, severe liver injury and shock-mediated death in ALF-induced mice. As a mechanism, PMOC inhibited the catalytic activity of TGF-β-activated kinase 1 (TAK1) in a competitive manner with respect to ATP, displaced fluorescent ATP probe from the complex with TAK1, and docked at the ATP-binding active site on the crystal structure of TAK1. Moreover, PMOC inhibited TAK1 auto-phosphorylation, which is an axis in the activating pathways of nuclear factor-κB (NF-κB) or activating protein 1 (AP1), in the liver with ALF in vivo or in primary liver cells stimulated with TLR agonists in vitro. PMOC consequently suppressed TAK1-inducible NF-κB or AP1 activity in the inflammatory injury, an early pathogenesis leading to ALF. The results suggested that PMOC could contribute to the treatment of TLR/MyD88-associated ALF with the ATP-binding site of TAK1 as a potential therapeutic target.
Adenosine Triphosphate ; Animals ; Apoptosis ; Catalytic Domain ; Chalcone ; Death, Sudden ; Escherichia coli ; Hepatocytes ; In Vitro Techniques ; Inflammation ; Liver ; Liver Failure, Acute* ; Mice ; Myeloid Differentiation Factor 88 ; Phosphotransferases ; Plants, Medicinal ; Toll-Like Receptors

Larrea nitida is a plant that belongs to the Zygophyllaceae family and is widely used in South America to treat inflammatory diseases, tumors and menstrual pain. However, its pharmacological activity remains unclear. In this study we evaluated the property of selective estrogen receptor modulator (SERM) of Larrea nitida extracts (LNE) as a phytoestrogen that can mimic, modulate or disrupt the actions of endogenous estrogens, depending on the tissue and relative amount of other SERMs. To investigate the property of SERM of LNE, we performed MCF-7 cell proliferation assays, estrogen response element (ERE)-luciferase reporter gene assay, human estrogen receptor (hER) binding assays and in vivo uterotrophic assay. To gain insight into the active principles, we performed a bioassay-guided analysis of LNE employing solvents of various polarities and using classical column chromatography, which yielded 16 fractions (LNs). LNE showed high binding affinities for hERalpha and hERbeta with IC50 values of 1.20x10(-7) g/ml and 1.00x10(-7) g/ml, respectively. LNE induced 17beta-estradiol (E2)-induced MCF-7 cell proliferation, however, it reduced the proliferation in the presence of E2. Furthermore, LNE had an atrophic effect in the uterus of immature rats through reducing the expression level of progesterone receptor (PR) proteins. LN08 and LN10 had more potent affinities for binding on hER alpha and beta than other fractions. Our results indicate that LNE had higher binding affinities for hERbeta than hERalpha, and showed SERM properties in MCF-7 breast cancer cells and the rat uterus. LNE may be useful for the treatment of estrogen-related conditions, such as female cancers and menopause.
Animals ; Breast Neoplasms ; Chromatography ; Dysmenorrhea ; Estrogens* ; Female ; Genes, Reporter ; Humans ; Inhibitory Concentration 50 ; Larrea* ; MCF-7 Cells* ; Menopause ; Phytoestrogens ; Plants ; Rats* ; Receptors, Progesterone ; Response Elements ; Selective Estrogen Receptor Modulators ; Solvents ; South America ; Uterus* ; Zygophyllaceae