Article
Genetics & Heredity
Shuxian Zhang, Yun Du, Lingli Cai, Meixue Chen, Yuanzong Song, Lilan He, Ni Gong, Qingran Lin
Summary: This study examines the difficulties encountered by caregivers of children with citrin deficiency in home-based dietary management and the reasons behind these challenges. The findings highlight the adverse effects of multi-dimensional contradictions on the adherence of caregivers to dietary management.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Endocrinology & Metabolism
Kiyoshi Hayasaka
Summary: Citrin deficiency is a hereditary disorder caused by SLC25A13 mutations, affecting the energy metabolism of hepatocytes. MCT supplementation therapy is recommended for NICCD and CTLN2 patients to provide energy, promote lipogenesis, and improve ammonia detoxification.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Genetics & Heredity
Nimrod Sachs, Oded Wechsberg, Yuval E. Landau, Irit Krause, Ifat Israel Elgali, Malak Darawshe, Noam Shomron, Gabriel Lidzbarsky, Naama Orenstein
Summary: Citrin deficiency is an autosomal recessive disorder caused by pathogenic variants in the SLC25A13 gene. It presents in neonates as failure to thrive and acute liver insufficiency. A case of Citrin deficiency in a 4-week-old infant was diagnosed through comprehensive biochemical and molecular analysis, revealing a previously unknown damaging variant of the SLC25A13 gene.
Article
Endocrinology & Metabolism
Hui -An Chen, Rai-Hseng Hsu, Yu -Han Chen, Shu-Chang Chiang, Ni-Chung Lee, Wuh-Liang Hwu, Pao -Chin Chiu, Yin-Hsiu Chien
Summary: This study demonstrates the importance and cost-effectiveness of employing second-tier molecular testing to improve the detection rate of citrin deficiency by newborn screening.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Medical Laboratory Technology
Jiansheng Lin, Weihua Lin, Yiming Lin, Weilin Peng, Zhenzhu Zheng
Summary: This study retrospectively analyzed the cases of Chinese infants with NICCD and identified multiple genetic mutations. The study also found comorbidity of NICCD and other inborn errors of metabolism in some patients.
CLINICA CHIMICA ACTA
(2024)
Article
Pathology
Nike Kwai Cheung Lau, Hencher Han Chih Lee, Sammy Pak Lam Chen, Candy Wai Yan Ng, Chloe Miu Mak, Yeow Kuan Chong, Tammy Tsz Yan Tong, Mei Tik Leung, Chi Chung Shek, Yuet Ping Yuen, Chor Kwan Ching
Summary: This study developed a MLPA assay to detect exonic copy number variations in the SLC25A13 gene, successfully identifying new exonic deletions in patients with citrin deficiency. This method provides a new approach for molecular diagnosis of citrin deficiency in patients with inconclusive sequencing results.
Article
Medicine, General & Internal
Leda L. Ferreira, Juan P. Aguilar Ticona, Paulo S. Silveira-Mattos, Maria B. Arriaga, Thaisa B. Moscato, Gildasio C. Conceicao, Antonio Carlos dos Santos, Federico Costa, Cresio A. D. Alves, Sonir R. Antonini
Summary: This study showed that congenital Zika infection with microcephaly is associated with midline brain defects and optic nerve atrophy. Children with congenital Zika infections experienced prenatal growth impairments without postnatal catch-up, leading to persistent short length.
Article
Pediatrics
Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu, Choufen Deng, Yuanjuan Yang, Shuming Tan, Shuxiang Sun, Yuping Li, Tong Ou
Summary: A real-time PCR-based multicolor melting curve analysis (MMCA) method was developed in this study to detect common mutations related to citrin deficiency, showing accurate and reliable results. Analysis of 5,332 newborns in southern China identified a carrier rate of 2% for SLC25A13 mutations.
FRONTIERS IN PEDIATRICS
(2021)
Article
Biochemistry & Molecular Biology
Ting Zhang, Shasha Zhu, Haixia Miao, Jianbin Yang, Yezhen Shi, Yuwei Yue, Yu Zhang, Rulai Yang, Benqing Wu, Xinwen Huang
Summary: This study explored the differences in metabolic indices between NICCD patients in the newborn-screen group and the clinical diagnosed group. The clinical diagnosed group showed more severe metabolic derangements and poorer prognosis. The findings highlight the importance of newborn screening for NICCD.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Multidisciplinary Sciences
Junghun Yoo, Bum Ju Lee
Summary: This study found associations between osteoporosis and various anthropometric, biochemical, and nutritional components in Korean women, but most of these associations disappeared in adjusted models for men.
Article
Pediatrics
Kena Wang, Biao Zou, Fan Chen, Jianling Zhang, Zhihua Huang, Sainan Shu
Summary: This study reports 4 neonates with jaundice and low body weight, who were found to carry compound heterozygous variants of the SLC25A13 gene through genetic screening. Three of the variants were newly discovered. The study provides important insights for genetic counseling and early diagnosis and intervention in infants with cholestasis caused by citrin deficiency.
FRONTIERS IN PEDIATRICS
(2023)
Article
Food Science & Technology
Xinyue Li, Fang Li, Junhao Ma, Mingjun Li, Xi Lei, Xianghua Tang, Qian Wu, Zunxi Huang, Rui Zhang
Summary: In this study, a Citrobacter freundii hyaluronic acid lyase was expressed in Escherichia coli and showed higher cleavage activity of hyaluronic acid compared to chondroitin sulfate. The optimal pH and temperature of the enzyme were found to be 5.5 and 35 degrees C, respectively. The enzyme activity was not significantly affected by most metal ions. The cleavage products of hyaluronic acid showed increased antioxidant activity.
Article
Multidisciplinary Sciences
Chung-Yuan Liao, Li-Chieh Wang, Jyh-Hong Lee, Kuan-Wen Wu, Yu-Tsan Lin, Yao-Hsu Yang, Bor-Luen Chiang, Hsin-Hui Yu
Summary: Growing pains is a common syndrome characterized by bilateral leg pain in children, without standardized diagnostic criteria. Elevated levels of alkaline phosphatase and lactate dehydrogenase may be associated with this condition.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Siyu Chang, Yi Yang, Feng Xu, Wenjun Ji, Xia Zhan, Xiaolan Gao, Ting Chen, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Kaichuang Zhang, Xuefan Gu, Lianshu Han
Summary: This study analyzed the biochemical, clinical, and genetic characteristics of primary carnitine deficiency (PCD) patients identified through newborn screening in Shanghai. The results showed that mutations in the SLC22A5 gene were the main cause of PCD, and 8 novel mutations were identified. The combination of tandem mass spectrometry (MS/MS) and genetic testing improved the early diagnosis accuracy of PCD.
FRONTIERS IN GENETICS
(2022)
Article
Food Science & Technology
Hualian Wu, Tao Li, Jinting Lv, Zishuo Chen, Jiayi Wu, Na Wang, Houbo Wu, Wenzhou Xiang
Summary: The study evaluated the growth and biochemical composition characteristics of Arthrospira platensis cultured with a nitrogen-free and seawater-supplemented medium in winter, finding a significant increase in carbohydrate content and reduction in protein, lipid, and pigment contents. Large-scale production of carbohydrate-rich A.platensis biomass was successfully achieved through a low-cost culture approach.
Article
Acoustics
Jisun Hwang, Hee Mang Yoon, Ah Young Jung, Jin Seong Lee, Kyung Mo Kim, Seak Hee Oh, Young Ah Cho
JOURNAL OF ULTRASOUND IN MEDICINE
(2020)
Article
Gastroenterology & Hepatology
Pyeong Hwa Kim, Seo Hee Kim, Young Ah Cho, Hee Mang Yoon, Jin Seong Lee, Ah Young Jung, Seak Hee Oh, Dae Yeon Kim, Jung-Man Namgoong, Kyung Mo Kim
Summary: This study investigated MRI features of perianal fistula in Korean children with Crohn's disease and their associations with long-term outcomes. The results showed that fistula length and dominant features of the tracts on MRI were useful predictors of outcomes, and subclinical PAF at diagnosis did not significantly affect the later development of clinically evident PAF.
JOURNAL OF CROHNS & COLITIS
(2021)
Article
Gastroenterology & Hepatology
Iksoo Chang, Seongjun Park, Hye-Jin Lee, Inki Kim, Sojung Park, Mi Kyoung Ahn, Juhwan Lee, Mooseok Kang, In-Jeoung Baek, Young Hoon Sung, Chan-Gi Pack, Hyo-Jeong Kang, Kunsong Lee, Ho Joon Im, Eul Ju Seo, Kyung Mo Kim, Suk-Kyun Yang, Kyuyoung Song, Seak Hee Oh
Summary: A high prevalence of XIAP deficiency was observed among children with refractory CD, with advanced functional studies guiding a more objective interpretation of XIAP VUSs and consideration of hematopoietic stem cell transplantation.
JOURNAL OF CROHNS & COLITIS
(2021)
Article
Chemistry, Physical
Miyeon Jue, Chan-Gi Pack, Seakhee Oh, Bjorn Paulson, Kwanhee Lee, Jun Ki Kim
Article
Biochemistry & Molecular Biology
Seak Hee Oh, Hye-Jin Lee, Mi Kyoung Ahn, Mi Yeon Jeon, Jeong-Soo Yoon, Yeon Ju Jung, Gyeong-Nam Kim, In-Jeoung Baek, Inki Kim, Kyung Mo Kim, Young Hoon Sung
Summary: CRISPR-Cas systems, such as Cas9 and Cpf1, are effective tools for generating gene knockout mouse models. A hybrid guide RNA system combining Cas9 and Cpf1 has been developed for multiplex gene editing, showing successful results in targeting multiple genes in mouse embryos.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Gastroenterology & Hepatology
Hyun Jin Kim, Seak Hee Oh, Sung Hee Lee, Yu-Bin Kim, Dae Yeon Kim, Sang Hyoung Park, Byong Duk Ye, Suk-Kyun Yang, Kyung Mo Kim
Summary: The study suggests that early aggressive therapy should be considered in pediatric CD patients with B1 behavior and risk factors of disease evolution to improve long-term outcomes.
Letter
Gastroenterology & Hepatology
Yu Bin Kim, Seak Hee Oh, Jae Sung Ko, Kyung Mo Kim
LIVER INTERNATIONAL
(2021)
Article
Gastroenterology & Hepatology
Jooyoung Jang, Sung Hee Lee, In Sook Jeong, Jinmin Cho, Hyun Jin Kim, Seak Hee Oh, Dae Yeon Kim, Ho-Su Lee, Sang Hyoung Park, Byong Duk Ye, Suk-Kyun Yang, Kyung Mo Kim
Summary: This retrospective study analyzed 208 pediatric UC patients in Korea, revealing a male-to-female ratio of 1.3:1 and a median age of 15.5 years. Patients had extensive disease at diagnosis, with high rates of disease extension and relatively low colectomy rates.
Article
Gastroenterology & Hepatology
Seak Hee Oh, In Sook Jeong, Dae Yeon Kim, Jung-Man Namgoong, Won Kyoung Jhang, Seong Jong Park, Dong-Hwan Jung, Deok Bog Moon, Gi-Won Song, Gil-Chun Park, Tae-Yong Ha, Chul-Soo Ahn, Ki-Hun Kim, Shin Hwang, Sung Gyu Lee, Kyung Mo Kim
Summary: Living donor liver transplantation (LDLT) is a significant advancement in the treatment of pediatric end-stage liver disease, showing improved survival rates for patients and grafts in different eras. Multivariate analysis identified acute liver failure, bloodstream infection, posttransplant lymphoproliferative disease, and chronic rejection as negative prognostic indicators for patient survival.
LIVER TRANSPLANTATION
(2022)
Article
Pediatrics
Jung-Man Namgoong, Shin Hwang, Gi-Young Ko, Hyunhee Kwon, Suhyeon Ha, Seak Hee Oh, Kyung Mo Kim
Summary: The study assessed the clinical usability of intraoperative cine-portogram in young pediatric patients undergoing LT for biliary atresia, demonstrating that this method is valuable for identifying and embolizing residual collateral veins in this patient population.
PEDIATRIC TRANSPLANTATION
(2022)
Article
Gastroenterology & Hepatology
Yeong Eun Kim, Ho Jung Choi, Hye-Jin Lee, Hyun Ju Oh, Mi Kyoung Ahn, Seak Hee Oh, Jung-Man Namgoong, Dae Yeon Kim, Won Kyoung Jhang, Seong Jong Park, Dong-Hwan Jung, Deok Bog Moon, Gi-Won Song, Gil-Chun Park, Tae-Yong Ha, Chul-Soo Ahn, Ki-Hun Kim, Shin Hwang, Sung Gyu Lee, Kyung Mo Kim
Summary: This study retrospectively analyzed data from children who underwent liver transplantation and found that bloodstream infections (BSIs) frequently occurred within the first year after transplantation. Factors such as young age, growth failure, the use of a liver support system, and longer hospital stays were independently associated with BSI.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Medicine, General & Internal
Ho Jung Choi, Inki Kim, Hye-Jin Lee, Hyun Ju Oh, Mi Kyoung Ahn, Woo Im Baek, Yeong Eun Kim, Seak Hee Oh, Byong Sop Lee, Jung-Man Namgoong, Dae Yeon Kim, Eun Joo Lee, Jung Ok Shim, Jae Sung Ko, Kyung Mo Kim
Summary: This study investigated the etiology and outcome of neonatal cholestasis in a tertiary hospital and developed a prediction model for neonatal cholestasis-related mortality. The study found that prematurity, birth injury, complex heart anomalies, liver diseases, and gastrointestinal anomalies were the most common causes of neonatal cholestasis. A logistic regression-based prediction model using simple laboratory indices showed acceptable performance in predicting one-year mortality outcome. The model was externally validated in other centers and exhibited similar performance profiles.
Article
Surgery
Yu Jeong Cho, Hyunhee Kwon, Yong Jae Kwon, Kyung Mo Kim, Seak Hee Oh, Dae Yeon Kim
Summary: This Phase IV study evaluated the efficacy and safety of autologous adipose tissue-derived stem cells (ASCs) in children with refractory Crohn's fistulae, showing that four out of five patients experienced fistula healing after ASC injection, with one achieving complete and sustained closure after six months. ASC therapy was well-tolerated and considered a simple therapeutic option, but further data from more patients is needed.
ANNALS OF SURGICAL TREATMENT AND RESEARCH
(2021)
Article
Pediatrics
Jae Guk Jang, Seak Hee Oh, Yu Bin Kim, Seo Hee Kim, Han-Wook Yoo, Beom Hee Lee, Jung-Man Namgoong, Dae Yeon Kim, Ki-Hun Kim, Gi-Won Song, Deok-Bog Moon, Shin Hwang, Sung-Gyu Lee, Kyung Mo Kim
Summary: The study demonstrated that LDLT can improve the quality of life for MMA patients, even with auxiliary LT. Post-transplantation, MMA levels in the serum decreased, and there was no progression in metabolic crisis, renal impairment, or delayed cognitive development.
PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
(2021)
Article
Multidisciplinary Sciences
You Na Kim, Joon Seon Song, Seak Hee Oh, Yoon Jeon Kim, Young Hee Yoon, Eul-Ju Seo, Chang Ahn Seol, Sae-Mi Lee, Jong-Moon Choi, Go Hun Seo, Changwon Keum, Beom Hee Lee, Joo Yong Lee
SCIENTIFIC REPORTS
(2020)