A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and acylcarnitine profiles for inherited metabolic diseases and the analysis of organic acid in urine suggested multiple carboxylase deficiency; genetic testing showed a homozygous mutation of c.1522C>T(p.R508W) in the HLCS gene. Finally the boy was diagnosed with holocarboxylase synthetase deficiency and achieved a good clinical outcome after oral biotin treatment. This article analyzes the clinical data of a child with holocarboxylase synthetase deficiency and summarizes the etiology, diagnosis, and treatment of this child, so as to provide ideas for clinicians to diagnose this rare disease.
Humans ; Male ; Biotin/therapeutic use* ; Holocarboxylase Synthetase Deficiency/drug therapy* ; Homozygote ; Mutation ; Rare Diseases/drug therapy* ; Infant

Objective To compare the sensitivity and accuracy of amplified luminescent proximity homogeneous assay linked immunosorbent assay (AlphaLISA) and magnetic particles-based chemiluminescence immunoassay (MP-CLIA) for detection of staphylococcal enterotoxin C (SEC) in the simulated milk samples. Methods The AlphaLISA was constructed using goat anti-SEC polyclonal antibody-coupled receptor microspheres, biotin-labeled SEC monoclonal antibody and streptavidin-coupled donor microspheres. The MP-CLIA was constructed using goat anti-SEC polyclonal antibody conjugated alkaline phosphatase, biotin-labeled anti-SEC monoclonal antibody and streptavidin conjugated magnetic beads. Results The sensitivity of AlphaLISA to detect SEC content in simulated milk samples was 4.04 ng/L, and the coefficient of variation (CV) was 1.98%~9.82%. The sensitivity of MP-CLIA was 108.19 ng/L and CV was 4.63%~20.40%. Conclusion Compared with MP-CLIA, AlphaLISA is more sensitive and accurate to detecting SEC.
Animals ; Streptavidin ; Biotin ; Luminescence ; Milk ; Antibodies, Monoclonal ; Goats ; Immunoassay/methods*

Objective: Brain and muscle ARNT-like protein 1 (BMAL1) is a core component of hepatocyte molecular clock and plays an important role in the regulation of other related rhythmic genes in the body through a transcriptional-translational feedback loop in molecular circadian oscillations. Therefore, the aim of this study was to investigate the role of BMAL1 in the rat periodontitis-induced liver injury. Methods: Twelve male Wistar rats were divided into the control group and the periodontitis group according to the random number table method. The rats in the control group were untreated. The periodontitis models were established by ligating the necks of the bilateral maxillary first molars in the periodontitis group rats. After 8 weeks, periodontal clinical indexes of rats in both groups were examined and executed. Micro-CT scans of the maxilla were performed and levels of the alveolar bone resorption were analyzed. Pathological changes in periodontal and liver tissue of rats in two groups were detected by HE and oil red O staining. Biochemical kits were used to detect glutamic-oxaloacetic transaminase (GOT), glutamic-pyruvic transaminase (GPT), total cholesterol (TC) and triglycerides (TG) in serum. The gene and protein expression levels of BMAL1, nuclear factor kappa-B (NF-κB) and tumor necrosis factor-α (TNF-α) in liver tissue were measured by real time fluorescent quantitative-PCR (qRT-PCR), immunohistochemistry (IHC) and Western blotting (WB) assays. Apoptosis was detected in liver tissues by terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL) kit staining. Results: The results of HE staining of maxillary first molars and micro-CT results of maxillary bones showed that alveolar bone resorption was significant in the periodontitis group of rats. The liver histopathology results showed infiltrated inflammatory cells in the liver tissue, disorganized liver cords and a large number of lipid droplets formed in the hepatocytes of the periodontitis group compared with the control group. The results of serum biochemical assay showed that the levels of GOT [(62.77±2.59) U/L], GPT [(47.54±1.04) U/L], TC [(3.19±0.23) mmol/L] and TG [(1.11±0.09) mmol/L] in the serum of rats with periodontitis were significantly higher than that in the control group respectively [GOT: (38.66±2.47) U/L, GPT: (31.48±1.57) U/L, TC: (1.60±0.05) mmol/L and TG: (0.61±0.09) mmol/L](P=0.003, P=0.001, P=0.002, P=0.038). qRT-PCR results showed that the mRNA expression level of BMAL1 was significantly decreased in liver tissue of the periodontitis group [(0.60±0.04)%] compared to the control group [(1.01±0.07)%] (t=4.80, P=0.009), while the mRNA expression levels of NF-κB and TNF-α [(1.62±0.12)%, (2.69±0.16)%] were significantly increased compared to the control group [(1.00±0.03)%, (1.03±0.16)%] (P=0.008, P=0.002); IHC results showed that the protein expression level of BMAL1 in liver tissue of the periodontitis group (averaged optical density, AOD) (11.58±2.15) was down-regulated compared to the control group (AOD) (22.66±1.67) (P=0.015), while NF-κB and TNF-α (AOD) (31.77±2.69, 24.31±2.32) were up-regulated compared to the control group (AOD) (19.40±1.82, 11.92±0.94) (P=0.019, P=0.008). WB results showed that the protein expression level of BMAL1 in liver tissue was down-regulated in the periodontitis group [(0.63±0.10)%] compared to the control group [(1.00±0.06)%] (t=3.19, P=0.033), while NF-κB and TNF-α [(1.61±0.12)%, (2.82±0.23)%] were up-regulated compared to the control group [(1.00±0.12)%, (1.00±0.11)%] (P=0.022, P=0.002). TUNEL staining showed increased apoptotic cells in the liver tissue of the periodontitis group of rats compared to the control group. Conclusions: Periodontitis may induce liver injury by down-regulating the BMAL1 expression levels in liver tissue, which in turn activates NF-κB signaling molecules, leading to the elevated levels of inflammation and apoptosis in rat liver.
Animals ; Male ; Rats ; Alanine Transaminase/metabolism* ; ARNTL Transcription Factors/metabolism* ; Aspartate Aminotransferases/metabolism* ; Biotin/metabolism* ; Bone Resorption ; Brain ; Chemical and Drug Induced Liver Injury, Chronic ; Cholesterol ; DNA Nucleotidylexotransferase/metabolism* ; Muscles/metabolism* ; NF-kappa B/metabolism* ; Periodontitis ; Rats, Wistar ; RNA, Messenger/metabolism* ; Triglycerides ; Tumor Necrosis Factor-alpha/metabolism*

Multiple carboxylase deficiency (MCD) includes autosomal recessive holocarboxylase synthetase (HLCS) deficiency and biotinidase (BTD) deficiency, which are caused by and gene mutations respectively. Neonatal screening for HLCS deficiency is based on 3-hydroxyisovaleryl carnitine in dry blood filter paper, and BTD deficiency is based on BTD activity determination. HLCS deficiency and BTD deficiency are characterized by neurocutaneous syndrome and organic aciduria, however, they are different in onset age, neurological symptoms and metabolic decompensation, which needed to be differentiated from acquired biotin deficiency or other genetic metabolic diseases. The diagnosis of the disease requires a combination of biochemical characteristics of hematuria, enzyme activity determination and genetic test. Routine biotin doses are effective for most MCD patients. This consensus is intended to benefit early screening and diagnosis of MCD.
Biotin/therapeutic use* ; Biotinidase Deficiency/therapy* ; Carbon-Nitrogen Ligases/metabolism* ; Consensus ; Holocarboxylase Synthetase Deficiency/genetics* ; Humans ; Infant, Newborn ; Multiple Carboxylase Deficiency/drug therapy* ; Neonatal Screening

BACKGROUND AND OBJECTIVES: This study aims to explore the effects of a long non-coding RNA, LINC00525, on colorectal cancer (CRC) and its underlying molecular mechanisms. METHODS: The qPCR, MTT, colony formation, Western blotting, Luciferase reporter and biotin pull-down, shRNA knockdown and DNA fragmentation assays were performed in this study. RESULTS: High expressions of LINC00525 were associated with poor prognosis of CRC patients. LINC00525 knockdown decreased stemness properties and increased sensitivities to oxaliplatin. MiR-507 was a direct target of LINC00525 and overexpression of miR-507 significantly decreased abilities of tumorsphere formation and cell growth. Overexpression of miR-507 resulted in a decrease of expression of cancer stem cell markers and the increase of apoptosis rates. MiR-507 regulated the expression of ELK3. In addition, LINC00525 knockdown decreased the expression of ELK3. Restoration of ELK3 expression abrogated the effects of LINC00525 knockdown. LINC00525 could be served as prognostic marker of CRC. CONCLUSIONS: LINC00525 enhanced stemness properties and increased sensitivities of CRC cells to oxaliplatin by targeting miR-507/ELK3 axis.
Apoptosis ; Biotin ; Blotting, Western ; Colorectal Neoplasms ; DNA Fragmentation ; Humans ; Luciferases ; Neoplastic Stem Cells ; Prognosis ; RNA, Long Noncoding ; RNA, Small Interfering

OBJECTIVES: The Korean Food Composition Table (KFCT) was first published in 1970, and has since been updated every five years by the Rural Development Administration (RDA). This study was conducted to introduce the development strategies, features, and challenges of the 9th revision of the KFCT. METHODS: Due to the increasing demands of nutrient database users and generators, the RDA started a new research project in 2013 to improve the quantity and quality of data for the 9th revision of the KFCT. Over 1,000 food items frequently consumed in Korea were selected as key foods using the results of the Korean National Health and Nutrition Examination Survey. About 200 raw materials and processed food items were collected and analyzed every year. Target nutrients that were analyzed by collaborative labs, such as, sugars, selenium, iodine, and biotin, were increased from 22 to 43. Analytical sample handling procedures and data quality evaluation systems were also established in collaboration with 10 contracted labs. Data were evaluated for data quality according to the FAO/INFOODS, CODEX, and AOAC guidelines. RESULTS: The 9th revision contains data on 3,000 food items and up to 43 and 140 food nutrients for the printed table and the excel database file, respectively. Overall, 1,485 data items were newly added, 973 of which were provided by the RDA and 512 were cited from foreign nutrient databases. The remaining 1,515 food items were maintained as in the 8th revision. CONCLUSIONS: The KFCT provides the basic infrastructure for food and nutrition policy, research, and dietary practice in South Korea. The use of the KFCT has increased exponentially in the past few years in both public and private sectors; accordingly, increased efforts should be paid to the preparation, improvement, and maintenance of KFCT.
Biotin ; Carbohydrates ; Cooperative Behavior ; Data Accuracy ; Iodine ; Korea ; Nutrition Policy ; Nutrition Surveys ; Private Sector ; Selenium ; Social Planning

OBJECTIVES: The Korean Food Composition Table (KFCT) was first published in 1970, and has since been updated every five years by the Rural Development Administration (RDA). This study was conducted to introduce the development strategies, features, and challenges of the 9th revision of the KFCT. METHODS: Due to the increasing demands of nutrient database users and generators, the RDA started a new research project in 2013 to improve the quantity and quality of data for the 9th revision of the KFCT. Over 1,000 food items frequently consumed in Korea were selected as key foods using the results of the Korean National Health and Nutrition Examination Survey. About 200 raw materials and processed food items were collected and analyzed every year. Target nutrients that were analyzed by collaborative labs, such as, sugars, selenium, iodine, and biotin, were increased from 22 to 43. Analytical sample handling procedures and data quality evaluation systems were also established in collaboration with 10 contracted labs. Data were evaluated for data quality according to the FAO/INFOODS, CODEX, and AOAC guidelines. RESULTS: The 9th revision contains data on 3,000 food items and up to 43 and 140 food nutrients for the printed table and the excel database file, respectively. Overall, 1,485 data items were newly added, 973 of which were provided by the RDA and 512 were cited from foreign nutrient databases. The remaining 1,515 food items were maintained as in the 8th revision. CONCLUSIONS: The KFCT provides the basic infrastructure for food and nutrition policy, research, and dietary practice in South Korea. The use of the KFCT has increased exponentially in the past few years in both public and private sectors; accordingly, increased efforts should be paid to the preparation, improvement, and maintenance of KFCT.
Biotin ; Carbohydrates ; Cooperative Behavior ; Data Accuracy ; Iodine ; Korea ; Nutrition Policy ; Nutrition Surveys ; Private Sector ; Selenium ; Social Planning

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

This study attempted to investigate whether nutrient and food intake were related with mild cognitive impairment (MCI) in adults and elderly over 50 years of age in Korea. Questionnaires and anthropometric measurements were conducted on general aspects of the research, and food frequency questionnaires (FFQs) were conducted to determine nutritional status. The relative theta power (RTP) through electroencephalography (EEG) measurements, neurocognitive function test (NFT; CNS Vital Signs), and cognitive function was measured. The MCI group consumed significantly lower C18:4, eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA) among the N-3 fatty acids, N-6 fatty acids dihomo-γ-linolenic acid (DGLA), mono unsaturated fatty acids, C22:1, biotin, vitamin D in the nutrients, and sweet potato (12.35g/day, p = 0.015), mackerel (3.38g/day, p = 0.017), mandarin orange (p = 0.016), persimmon (p = 0.013) and apple (p = 0.023) in the food than the normal group did. And the MCI group consumed salted fish (3.14g/day, p = 0.041) and ice-cream (5.01g/day, p = 0.050) at a significantly higher level. Delayed verbal score, delayed visual score, and verbal memory score of the NFT and RTP values of the prefrontal cortex among the EEGs were significantly lower in the MCI group compared to those in the normal group. From this study, we found that nutrient and food intake are closely related to MCI in Korean aged 50 years and older, but more human studies are needed to verify these findings.
Adult ; Aged ; Asian Continental Ancestry Group ; Biotin ; Citrus sinensis ; Cognition* ; Diospyros ; Eating ; Eicosapentaenoic Acid ; Electroencephalography ; Fatty Acids, Omega-3 ; Fatty Acids, Omega-6 ; Fatty Acids, Unsaturated ; Humans ; Ipomoea batatas ; Korea ; Memory ; Mild Cognitive Impairment ; Nutritional Status ; Perciformes ; Prefrontal Cortex ; Vitamin D

The purpose of this research was to provide basic information for cookies made with black soybeans, chick peas, lentils, oatmeal, and brewer's yeast and to establish the optimum formula for the development of low glycemic index (GI) cookies with high biotin content for lactating women. This study was performed to determine the optimal composite recipe of oatmeal cookies with two different concentrations levels of bean powder (black soybeans, chick peas, lentils) and brewer's yeast using a central composite design. In addition, the mixing conditions of oatmeal cookies were optimized using response surface methodology of sensory evaluation and mechanical and physicochemical analysis. As a result, mechanical and physicochemical analyses showed significant values for lightness, redness, yellowness, hardness, and water content (P < 0.05), while sensory evaluation showed significant values for flavor, taste, crispness, and overall acceptability (P < 0.05). The optimal sensory combination was suggested to be 3.73 g of bean powder and 1.59 g of brewer's yeast. Considering all outcomes obtained throughout the experiments, brewer's yeast, black soybeans, chick peas, lentils, and oatmeal are suitable ingredients for increasing functionality and consumer acceptability of cookies. In addition, these results are expected to be useful in producing cookies of optimal quality, contributing to the development of various nutritious foods, and improving the food industry for lactating women.
Biotin ; Female ; Food Industry ; Glycemic Index ; Hardness ; Humans ; Lens Plant ; Peas ; Saccharomyces cerevisiae ; Skin ; Soybeans ; Water