No abstract available.
Animals ; Cattle ; Encephalopathy, Bovine Spongiform/epidemiology ; Meat/*analysis ; United States

OBJECTIVE: 3-Methylcrotonyl CoA carboxylase deficiency (3MCCD) is classified as organic acid disease due to leucine catabolism. It is among the most common inborn errors of metabolism identified on newborn screening test using tandem mass spectrometry. There is a broad spectrum of clinical presentations. 3-Methylcrotonyl CoA carboxylase converts 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA using biotin as a coenzyme in mitochondria. Restricting protein diets and supplementing carnitine, glycine, and biotin are known treatments. We reported this study to find out clinical symptoms, type of gene mutation, and effect of treatment. METHODS: This study was based on retrospective data of patients with 3MCCD in Soonchunhyang University Seoul Hospital and Soonchunhyang University Bucheon Hospital between April 2009 to August 2016. RESULTS: All 10 infants were born term infants and had no symptoms. During the neonatal period, abnormalities were detected in the new born screening test using tandem mass spectrometry, 3-hydroxyisovalerylcarnitine was increased. 3-Methylcrotonylglycine (3MCG) and 3-hydroxyisovalreric acid (3HIVA) were examined in urine organic acid assay. The results showed that 3MCG was increased in all 10 children. Except for three of the 10 children, 3HIVA was increased. Genetic tests were performed on all 10 children. MCCC1 gene mutations were detected in four patients and MCCC2 mutations were detected in six patients. After diagnosis, all children were recommended leucine-restricted diets, and seven of the 10 patients started to feed on leucine free formula for the treatment of 3MCCD. CONCLUSION: According to our data, all patients has no symptoms and are shown normal development. There were no clinical symptoms or changes in prognosis according to gene mutation type.
Biotin ; Carnitine ; Child ; Diagnosis ; Diet ; Glycine ; Gyeonggi-do ; Humans ; Infant ; Infant, Newborn ; Leucine ; Mass Screening ; Metabolism ; Metabolism, Inborn Errors ; Mitochondria ; Neonatal Screening ; Prognosis ; Retrospective Studies ; Seoul ; Tandem Mass Spectrometry

Thyroid hormone resistance is a rare syndrome of reduced tissue responsiveness to thyroid hormone. We report the case of a 13-month girl with short height and low weight. She was born at 37+6 weeks gestation and weighed 2,470 g. In the neonatal screening test, patients' thyroid stimulation hormone (TSH) level was increased to 13.1 µIU/mL. In follow-up test after getting levothyroxine medication, patients' free T4 level continued to increase and TSH level was normalized. After stop medication, the patient visited Soonchunhyang University Seoul Hospital every 2 to 3 months and done laboratory test, and the result was not changed. Despite good feeding, she consistently shows 5–10 percentile weight and 5–10 percentile height. Her bone age was delayed by 5 months compared to the expected age. In suspicious thyroid hormone resistance, THRβ gene study and brain magnetic resonance imaging (MRI), and T3 suppression test was done. Brain MRI and T3 suppression test shows the exception of pituitary thyroid adenoma. Gene study result was THRβ gene mutation, c.1012C>T (p.Arg338Trp), and heterozygous. This gene mutation was reported at thyroid hormone resistance family. After diagnosis of thyroid hormone resistance, because of the patient is asymptomatic, she does not have medication. We are checking developmental delay, growth delay, and other clinical hypothyroid symptoms.
Brain ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Neonatal Screening ; Pregnancy ; Seoul ; Thyroid Function Tests ; Thyroid Gland* ; Thyroid Hormone Receptors beta ; Thyroid Hormone Resistance Syndrome* ; Thyroid Neoplasms ; Thyroxine

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.
Antibodies ; Antibodies, Antinuclear ; Candida ; Candidiasis ; Candidiasis, Chronic Mucocutaneous* ; Candidiasis, Oral ; Child ; Diagnosis ; Exanthema ; Exome ; Fluconazole ; Genetic Background ; Hepatitis ; Hepatitis, Chronic* ; Humans ; Hypothyroidism* ; Immunoglobulin G ; Immunoglobulins ; Immunologic Tests ; Infant ; Lupus Erythematosus, Systemic* ; Male ; Mouth ; Mucous Membrane ; Pharynx ; Rare Diseases ; Skin ; Thyroid Diseases ; Thyroxine

Agarum clathratum, a brown macroalgae species, has recently become a serious environmental problem on the coasts of Korea. In an effort to solve this problem, fungal diversity associated with decaying A. clathratum was investigated and related β-glucosidase and endoglucanase activities were described. A total of 233 fungal strains were isolated from A. clathratum at 15 sites and identified 89 species based on morphology and a multigene analysis using the internal transcribed spacer region (ITS) and protein-coding genes including actin (act), β-tubulin (benA), calmodulin (CaM), and translation elongation factor (tef1). Acremonium, Corollospora, and Penicillium were the dominant genera, and Acremonium fuci and Corollospora gracilis were the dominant species. Fifty-one species exhibited cellulase activity, with A. fuci, Alfaria terrestris, Hypoxylon perforatum, P. madriti, and Pleosporales sp. Five showing the highest enzyme activities. Further enzyme quantification confirmed that these species had higher cellulase activity than P. crysogenum, a fungal species described in previous studies. This study lays the groundwork for bioremediation using fungi to remove decaying seaweed from populated areas and provides important background for potential industrial applications of environmentally friendly processes.
Acremonium ; Actins ; Biodegradation, Environmental ; Calmodulin ; Cellulase ; Fungi ; Korea ; Penicillium ; Peptide Elongation Factors ; Seaweed

Polyporoid and corticioid fungi are among the most important wood-decay fungi. Not only do they contribute to nutrient cycling by decomposing wood debris, but they are also valuable sources for natural products. Polyporoid and corticioid wood-inhabiting fungi were investigated in Odaesan National Park. Fruit bodies were collected and identified based on morphological and molecular analyses using 28S and internal transcribed spacer regions of DNA sequences. As a result, a total of 149 species, 69 genera, 22 families, and 11 orders were recognized. Half (74 species) of the species were polypores, and the other half (75 species) were corticioid fungi. Most of the species belonged to Polyporales (92 species) followed by Hymenochaetales (33 species) and Russulales (11 species). At the genus level, a high number of species was observed from Steccherinum, Hyphodontia, Phanerochaete, Postia, and Trametes. Concerning distribution, almost all the species could be found below 1,000 m, and only 20% of the species were observed from above 1,000 m. Stereum subtomentosum, Trametes versicolor, T. hirsuta, T. pubescens, Bjerkandera adusta, and Ganoderma applanatum had wide distribution areas. Deciduous wood was the preferred substrate for the collected species. Sixty-three species were new to this region, and 21 species were new to Korea, of which 17 species were described and illustrated.
Base Sequence ; Biological Products ; Classification ; Coriolaceae ; Fruit ; Fungi* ; Ganoderma ; Humans ; Korea* ; Parks, Recreational* ; Phanerochaete ; Polyporales ; Trametes ; Wood

OBJECTIVE: Ketamine use in emergency departments (EDs) for procedural sedation and analgesia is becoming increasingly common. However, few studies have examined patient factors related to adverse events associated with ketamine. This study investigated factors for consideration when using ketamine to sedate pediatric ED patients. METHODS: The study included pediatric patients receiving ketamine for laceration repair in the ED. Before sedation, information was collected about upper respiratory tract infection symptoms, allergy history, and fasting time. Patients received 2 mg/kg ketamine intravenously or 4 mg/kg ketamine intramuscularly. The primary outcomes were adverse events due to ketamine. RESULTS: We studied 116 patients aged 8 months to 7 years (2.8±1.5 years). The group with adverse events was significantly younger on average than the group without adverse events (2.5±1.5 vs. 3.1±1.5, P=0.028). Upper respiratory tract infection symptoms were not significant variables affecting ketamine sedation (48.9% vs. 43.7%, P=0.719). There was no significant association between duration of fasting and adverse events (P=0.073 and P=0.897, respectively), or between food type and adverse events (P=0.734). However, the number of attempts to sedate and ketamine dose correlated with adverse events (P<0.001 and P=0.022, respectively). In multiple logistic regression analysis, intravenous injection and ketamine dose were significant factors (odds ratio, 16.77; 95% confidence interval, 1.78 to 498.54; odds ratio, 4.37; 95% confidence interval, 1.59 to 22.9, respectively). CONCLUSION: Emergency medicine physicians should consider injection type and ketamine dose when using ketamine sedation while suturing lacerations.
Analgesia ; Child* ; Emergencies* ; Emergency Medicine ; Emergency Service, Hospital* ; Fasting ; Humans ; Hypersensitivity ; Injections, Intravenous ; Ketamine* ; Lacerations ; Logistic Models ; Odds Ratio ; Respiratory Tract Infections

PURPOSE: The aim of this study was to compare postoperative outcomes regarding pain and pain management in patients who underwent robot-assisted low anterior resection (RA-LAR) with laparoscopy-assisted low anterior resection (LA-LAR).METHODS: Medical records of adult patients who underwent LA-LAR (group L) or RA-LAR (group R) using robotic system (da Vinci Surgical System, Intuitive Surgical Inc., Sunnyvale, CA, USA) were collected prospectively at Chung-Ang University Hospital between January 1, 2010 and December 31, 2015. Patients were matched at a 1 to 1 ratio from Group L and R using propensity score-matching method. Intravenous patient-controlled analgesia (IV-PCA) was applied to the patients postoperatively, and the severity of postoperative pain visual analogue scale (VAS) and nausea as the numerical rating scale (NRS) was evaluated. The incidence of vomiting, dizziness, headache, and PCA clamping was also recorded. Additional fentanyl was administered as a rescue analgesic if the VAS score was over 3, and until VAS was less than 3.RESULTS: In the overall series, there was no significant difference between group L and group R regarding pain VAS, nausea NRS, number of vomiting episodes at day 0 and day 1. However, after propensity score analysis, pain VAS and the use of rescue analgesic at day 0 was lower in group L compared to group R (P=0.038, P=0.040).CONCLUSION: In regards to postoperative pain, RA-LAR did not show clear benefit over LA-LAR.
Adult ; Analgesia, Patient-Controlled ; Constriction ; Dizziness ; Fentanyl ; Headache ; Humans ; Incidence ; Laparoscopy ; Medical Records ; Methods ; Nausea ; Pain Management ; Pain, Postoperative ; Passive Cutaneous Anaphylaxis ; Propensity Score ; Prospective Studies ; Rectal Neoplasms ; Rectum ; Robotics ; Vomiting

Aortic regurgitation (AR) in children is usually caused by congenital valve anomalies, and Behçet syndrome (BS) can be suspected in cases of isolated AR. Patients with BS undergoing aortic valve surgery due to aortic valve invasion have a high risk of complications, such as leakage around the valve and dehiscence. Cardiovascular involvement occurs in 7%–46% of adult patients with BS and is the main cause of mortality; however, its prevalence is unclear and rare in children. A 12-year-old boy was diagnosed with severe AR associated with BS. A progressive subaortic pseudoaneurysm was observed after aortic valve replacement. The periaortic intracardiac pouch was at risk of rupture; therefore, the patient underwent a Bentall operation. After the Bentall procedure, a newly developed subaortic pseudoaneurysm was detected below the prosthetic valve. However, the risk of rupture reduced as the subaortic pseudoaneurysm regressed with anti-inflammatory drugs alone without reoperation. Repeated surgery is inevitable in patients with BS undergoing aortic valve surgery due to the progressive chronic inflammatory reactions that present with a pseudoaneurysm. Here, we report an 8-year follow-up of a pediatric case of BS with subaortic pseudoaneurysm, highlighting the importance of close follow-up, medical management, and early diagnosis in treating this condition.

Aortic regurgitation (AR) in children is usually caused by congenital valve anomalies, and Behçet syndrome (BS) can be suspected in cases of isolated AR. Patients with BS undergoing aortic valve surgery due to aortic valve invasion have a high risk of complications, such as leakage around the valve and dehiscence. Cardiovascular involvement occurs in 7%–46% of adult patients with BS and is the main cause of mortality; however, its prevalence is unclear and rare in children. A 12-year-old boy was diagnosed with severe AR associated with BS. A progressive subaortic pseudoaneurysm was observed after aortic valve replacement. The periaortic intracardiac pouch was at risk of rupture; therefore, the patient underwent a Bentall operation. After the Bentall procedure, a newly developed subaortic pseudoaneurysm was detected below the prosthetic valve. However, the risk of rupture reduced as the subaortic pseudoaneurysm regressed with anti-inflammatory drugs alone without reoperation. Repeated surgery is inevitable in patients with BS undergoing aortic valve surgery due to the progressive chronic inflammatory reactions that present with a pseudoaneurysm. Here, we report an 8-year follow-up of a pediatric case of BS with subaortic pseudoaneurysm, highlighting the importance of close follow-up, medical management, and early diagnosis in treating this condition.