Anaphylactic deaths are frequently observed at autopsies. Since death associated with medical practice has become social concern, the identification of anaphylactic shock is an important part of forensic medicine. However, autopsy findings of anaphylactic shock are usually non-specific; therefore, the diagnosis of anaphylactic shock must be inferred from collecting data on the past history of the deceased, circumstances of death, and negative autopsy findings. The analysis of serum mast cell tryptase level is a well-known, useful ancillary test for the diagnosis of anaphylactic shock, but is not widely used in daily practice in Korea. We recently encountered 2 autopsy cases of anaphylactic shock and confirmed that analysis of serum mast cell tryptase level was useful for the diagnosis of anaphylactic shock. In this report, we present these 2 autopsy cases of anaphylactic shock, with literature review of the usefulness and limitations of serum mast cell tryptase analysis.
Anaphylaxis ; Autopsy ; Forensic Medicine ; Korea ; Mast Cells ; Tryptases

Basal cell carcinomas usually arise from the epidermis and show some epidermal connections. It is very unusual that basal celi carcinomas occur as subderrnal mass without epidermal connections. A 51 year-old female h;d an asymptomatic skin colored indurated plaque with linear old scar on the left side of nose fcr about 20 years. She had had a tumor that supposed to be a epidermal cyst, on the same site and the lesion was excised about 20 years ago. We performed the punch biopsy on her first visit which revealed hypertrophic scar. She was treated with intralesional injection of triamcinolone acetonide to reduce the size of hypertrophic scar. However, the lesion had not been reduced. She underwent the surgery to remove the scar at plastic surgery and the excisional biopsy showed a subdermal basal cell carcinoma. We recommend that the newly developed skin tumor in the pre-excised region should be required excisional biopsy instead of punch and close observation
Biopsy ; Carcinoma, Basal Cell* ; Cicatrix ; Cicatrix, Hypertrophic ; Epidermal Cyst ; Epidermis ; Female ; Humans ; Injections, Intralesional ; Middle Aged ; Nose ; Skin ; Surgery, Plastic ; Triamcinolone Acetonide

BACKGROUND: Reperfusion of ischemic myocardium has been postulated to result in a specific oxygen radical mediated tissue injury. Iron may liberate during ischemia and we hypothesized that administration of the iron chelator, deferoxamine during ischemia would result in improved recovery after postischemic reperfusion. PURPOSE: To test whether iron-catalyzed processes contribute to myocardial necrosis during ischemia and reperfusion, deferoxamine was administered to block iron catalyzed hydroxyl radical formation in rabbits. METHODS: Eleven rabbits were divided into two groups: control group (n=5) and deferoxamine pretreatment group (n=6). the left circumflex coronay artery was ligated for 30 minutes and reperfused for 180 minutes. Area at risk (AR) was measured by non-stained area with ethylene blue injection into left atrium after left circumflex coronary artery ligation. Infarct size was measured by weighing after tripheyltetrazolium chloride staining. Heart rate was measured using electrocardiographic recording and systemic blood pressure was monitored by pressure transducer connected to the catheter in the left ventricle. RESULTS: 1. There was no significant difference of heart rate and blood pressure in deferoxamine pretreatment group compared with control group. 2. There was significant decrease of serum iron concentration after continuous infusion of deferoxamine compared with serum iron concentration before ligation of coronary artery (P<0.05). 3. There was no significant difference of area at risk between control and deferoxamine pretreatment group. 4. Area at necrosis to area at risk was significantly reduced in deferoxamine pretreatment group compared with control group (P<0.05) The results suggest that deferoxamine infusion prior to coronary artery occlusion has a significant benefit in reducing infarct size in this model.
Arteries ; Blood Pressure ; Catheters ; Coronary Vessels ; Deferoxamine* ; Electrocardiography ; Heart Atria ; Heart Rate ; Heart Ventricles ; Hydroxyl Radical ; Iron ; Ischemia ; Ligation ; Myocardial Infarction* ; Myocardium ; Necrosis ; Oxygen ; Rabbits ; Reperfusion ; Transducers, Pressure

No abstract available.
Parathyroid Neoplasms* ; Radionuclide Imaging* ; Thymoma*

PURPOSE: To translate and evaluate the reliability and validity of the Korean version of the National Eye Institute Visual Functioning Questionnaire-25 (NEI-VFQ-25). METHODS: Two bilingual ophthalmologists independently translated the original English version of the NEI-VFQ-25 into written Korean. A panel of the Korean Retina Society reviewed the translations to form a single reconciled forward translation of the Korean version of the NEI-VFQ-25. Another ophthalmologist back-translated this first draft into English. Both the first draft and back-translated draft were edited by a professional translator. To evaluate the correlation and validity, results between the original NEI-VFQ-25 and the Korean version, completed by the bilingual participants, were compared. RESULTS: The Korean version of the National Eye Institute Visual Functioning Questionnaire-25 was developed by translation, back-translation, and expert supervision. Results from 23 bilingual participants between the original NEI-VFQ-25 and the Korean version were compared and showed statistically significant correlation, with a Spearman's correlation coefficient of 0.4 or greater. The Kolmogorov-Smirnov test results showed no statistically significant differences between the two questionnaires. CONCLUSIONS: Translation and validation of the Korean version of the NEI-VFQ-25 was achieved.
National Eye Institute (U.S.) ; Organization and Administration ; Surveys and Questionnaires ; Reproducibility of Results ; Retina ; Translations

Osteoma is the most common benign tumor of the paranasal sinuses and the frontal sinus is the most frequently involved site. Osteomas are slow growing osteoblastic lesions commonly seen in the outer table of the calvarium, the mandible, the frontal and ethmoid sinus, and occasionally in tubular bones. They are usually detected during the second to fifth decades of life, and reported ratio of male to female is 1.5:1 to 2:1. The symptoms of osteomas are usually developed as gradual growth. They are headaches, facial pain, proptosis, decreased visual acuity, chemosis, diplopia, epiphora, nonpulsating exophthalmus, and transient blindness. Posterior intracranial extension of a frontoethmoid osteoma may lead to brain abscess, intracranial mucocele, tension pneumocephalus. We experienced a 60-year-old male patient who came to the emergency room with acute and severe left periorbital swelling, red eye, and epiphora lasted for 10 days. In a plain radiographs and computerized tomographic scans, a 2.5 x 2.5 x 3.0 cm well marginated mass impressed by osteoma in frontoethmoidal sinus was detected. After the symptoms subsided by conservative treatment, total excision was made by bicoronal approach. Authors reported a frontoethmoidal osteoma presenting periorbital cellulitis without orbital mucocele, which is very rare symptom.
Blindness ; Brain Abscess ; Cellulitis* ; Diplopia ; Emergency Service, Hospital ; Ethmoid Sinus ; Exophthalmos ; Facial Pain ; Female ; Frontal Sinus* ; Headache ; Humans ; Lacrimal Apparatus Diseases ; Male ; Mandible ; Middle Aged ; Mucocele ; Orbit ; Osteoblasts ; Osteoma* ; Paranasal Sinuses ; Pneumocephalus ; Skull ; Visual Acuity

BACKGROUND: Autoimmune cytopenia (AIC) is a rare complication of allogeneic hematopoietic cell transplantation (HCT). In this study, we reviewed the diagnosis, treatment and response to therapy for pediatric patients with post-HCT AIC at our institution. METHODS: Of the 292 allogeneic HCTs performed from January, 2011 to December, 2015 at the Department of Pediatrics, The Catholic University of Korea, seven were complicated by post-HCT AIC, resulting in an incidence of 2.4%. RESULTS: All seven patients with post-HCT AIC had received unrelated donor transplant. Six of seven patients had a major donor-recipient blood type mismatch. The subtypes of AIC were as follows: immune thrombocytopenia (ITP) 2, autoimmune hemolytic anemia (AIHA) 2, Evans syndrome 3. Median time from HCT to AIC diagnosis was 3.6 months. All but one patient responded to first line therapy of steroid±intravenous immunoglobulin (IVIG), but none achieved complete response (CR) with this treatment. After a median duration of treatment of 15.3 months, two patients with ITP achieved CR and five had partial response (PR) of AIC. Five patients were treated with rituximab, resulting in the following response: 2 CR, 2 PR, 1 no response (NR). Median time to response to rituximab was 26 days from first infusion. All patients are alive without event. CONCLUSION: Post-HCT AIC is a rare complication that may not resolve despite prolonged therapy. Rapid initiation of second line agents including but not limited to B cell depleting treatment should be considered for those that fail to achieve CR with first line therapy.
Anemia, Hemolytic, Autoimmune ; Cell Transplantation* ; Child* ; Diagnosis ; Humans ; Immunoglobulins ; Incidence ; Korea ; Pediatrics ; Purpura, Thrombocytopenic, Idiopathic ; Rituximab ; Transplants* ; Unrelated Donors

PURPOSE: ETV6/RUNX1 (+) acute lymphoblastic leukemia (ALL), which is the most common genetic subtype of pediatric ALL, has a favorable prognosis. In this study, we analyzed the outcome of ETV6/RUNX1 (+) ALL patients treated at our institution with the aim of identifying significant prognostic variables. MATERIALS AND METHODS: Sixty-three patients were diagnosed with ETV6/RUNX1 (+) ALL from 2005 to 2011. Prognostic variables studied included minimal residual disease (MRD) as detected by ETV6/RUNX1 (+) fusion, and the presence of additional cytogenetic abnormalities. RESULTS: The 5-year event-free survival was 84.1±4.6%, with 10 patients relapsing at a median of 28.3 months from diagnosis for a 5-year cumulative incidence of relapse of 15.9±4.6%. Multivariate analysis revealed that the presence MRD, as detected by real-time quantitative-polymerase chain reaction or fluorescence in situ hybridization for ETV6/RUNX1 fusion at end of remission induction, and the presence of additional structural abnormalities of 12p (translocations or inversions) negatively affected outcome. Despite treatment such as allogeneic hematopoietic cell transplantation, eight of the 10 relapsed patients died from disease progression for overall survival of 82.5±6.9%. CONCLUSION: ETV6/RUNX1 (+) ALL may be heterogeneous in terms of prognosis, and variables such as MRD at end ofremission induction or additional structural abnormalities of 12p could define a subset of patients who are likely to have poor outcome.
Cell Transplantation ; Chromosome Aberrations ; Diagnosis ; Disease Progression ; Disease-Free Survival ; Fluorescence ; Humans ; In Situ Hybridization ; Incidence ; Korea* ; Multivariate Analysis ; Neoplasm, Residual ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Prognosis ; Recurrence ; Remission Induction ; Transplants

PURPOSE: There have been few studies of the direct effect of a drug overdose on the gastrointestinal (GI) mucosa. This study evaluated the frequency of GI mucosal injury and the necessity for esophagogastroduodenoscopy (EGD) in patients with non-caustic drug ingestion (DI). METHODS: Patients who presented to the emergency department with non-caustic DI from January 2001 to December 2003 were enrolled in this study. EGD was performed on the patients after acute toxicologic management. Those who did not consent to EGD were excluded. The EGD findings were analyzed according to the non-caustic drug that had been ingested. RESULTS: Among the 37 patients, 24 (65%) had significant endoscopic lesions. Endoscopic findings were gastric erosion (n=17), ulcers (n=5), esophageal erosion (n=1), and a gastric hemorrhage (n=1). Pesticides, rodenticides, salicylates, and high dose doxylamine (>5 g) were associated with drug-induced gastropathy. CONCLUSION: This study suggests that GI mucosal injury has been underestimated in DI patients and that a treatment for gastromucosal protection should be performed when the non-caustic ingested drug is a pesticides, a rodenticides, a salicylates or high-dose doxylamine.
Doxylamine ; Drug Overdose ; Eating* ; Emergency Service, Hospital ; Endoscopy, Digestive System ; Hemorrhage ; Humans ; Mucous Membrane ; Pesticides ; Poisoning ; Rodenticides ; Salicylates ; Ulcer

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenomegaly, and HLH in the bone marrow. Under the impression of HLH, genetic study revealed a novel homozygous missense mutation of STX11: c.650T>C, p.Leu217Pro. Although no large deletion or allele drop was identified, genotype analysis demonstrated that the homozygous c.650T>C may have resulted from the duplication of a maternal (unimaternal) chromosomal region and concurrent loss of the other paternal allele, likely caused by meiotic errors such as two crossover events. A cumulative study of such novel mutations and their effects on specific protein interactions may deepen the understanding of how abnormal STX1 expression results in deficient cytotoxic function.
Alleles ; Amino Acid Sequence ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Bone Marrow/metabolism ; Child, Preschool ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Genotype ; Haplotypes ; Homozygote ; Humans ; Lymphohistiocytosis, Hemophagocytic/*genetics/pathology ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Qa-SNARE Proteins/*genetics ; Republic of Korea ; Sequence Alignment