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.
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
Public, Environmental & Occupational Health
Anil Kamat, Amrita Sah
Summary: This study investigated the correlation between COVID-19 incidence and deaths in neighboring countries, estimating the timing for border closure based on a high correlation reference. Significant distance correlation between Nepal and India was found, providing critical insights for policymakers and public health practitioners to make informed decisions on early border closure.
FRONTIERS IN PUBLIC HEALTH
(2021)
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
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)
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
Pediatrics
X. X. Wang, F. Yu, B. Wang
Summary: Infantile Citrin deficiency is a type of infantile cholestasis which can be effectively treated with symptomatic treatment, leading to relief of clinical symptoms and restoration of liver function indexes. Early diagnosis and proper examination methods are crucial for identifying the cause and providing a good prognosis for infants with Citrin deficiency.
HONG KONG JOURNAL OF PAEDIATRICS
(2021)
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
Environmental Studies
Annarita Colasante, Idiano D'Adamo, Piergiuseppe Morone, Paolo Rosa
Summary: This study proposes a new Waste Circularity Index (WCI) to measure the performance of waste management, and the results show variations in waste circularity among different European member states.
ENVIRONMENTAL IMPACT ASSESSMENT REVIEW
(2022)
Article
Pediatrics
Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura
Summary: A 3-month-old female infant was diagnosed with NICCD due to an SLC25A13 gene mutation, despite the absence of fatty deposits on liver pathology. After treatment, the infant regained weight and had improved stool color, with adequate weight gain and lower total bilirubin concentration upon discharge.
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
Endocrinology & Metabolism
Sevde Nur Firat, Huseyin Onay
Summary: Congenital leptin deficiency (CLD) is a rare cause of monogenic obesity primarily caused by mutations in the LEP gene. Few cases have been reported in the literature, highlighting the importance of considering CLD in children with obesity-related conditions.
OBESITY RESEARCH & CLINICAL PRACTICE
(2021)
Article
Endocrinology & Metabolism
Nadan Gregoric, Urh Groselj, Natasa Bratina, Marusa Debeljak, Mojca Zerjav Tansek, Jasna Suput Omladic, Jernej Kovac, Tadej Battelino, Primoz Kotnik, Magdalena Avbelj Stefanija
Summary: POMC deficiency is a rare genetic disorder characterized by obesity, adrenal insufficiency, reduced skin pigmentation, and red hair. Pathogenic variants in the POMC gene affect the production of peptides crucial for melanogenesis and energy balance, leading to excessive eating and early-onset severe obesity. This syndrome presents with various endocrinological abnormalities, with potential manifestations that may become evident over time, emphasizing the importance of ongoing clinical monitoring.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Economics
Jose Ignacio Gimenez-Nadal, Jose Alberto Molina, Jorge Velilla
Summary: This paper examines the time spent commuting to/from work by workers in fifteen European countries, analyzing recent trends in commuting and the factors affecting commuting behavior. Results show a significant gender gap in commuting time, with male workers devoting more time than their female counterparts, and certain determinants of commuting time varying across countries.
Article
Psychology, Multidisciplinary
Alexander Rozental, David Forsstrom, Ayah Hussoon, Katrin B. Klingsieck
Summary: Procrastination has a negative impact on students' academic achievements and well-being. This study aimed to differentiate severe from less severe cases of procrastination among students. The findings revealed that the severe procrastination group recognized procrastination as a problem, were more willing to seek help, experienced more problems in various life domains, had more severe psychological symptoms, and had lower quality of life.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Gastroenterology & Hepatology
Imeke Goldschmidt, Andre Karch, Rafael Mikolajczyk, Frauke Mutschler, Norman Junge, Eva Doreen Pfister, Tamara Moehring, Lorenzo d'Antiga, Patrick McKiernan, Deirdre Kelly, Dominique Debray, Valerie McLin, Joanna Pawlowska, Loreto Hierro, Kerstin Daemen, Jana Keil, Christine Falk, Ulrich Baumann
BMC GASTROENTEROLOGY
(2018)
Article
Genetics & Heredity
Celia Medrano, Ana Vega, Rosa Navarrete, M. Jesus Ecay, Rocio Calvo, Samuel Ignacio Pascual, Monica Ruiz-Pons, Laura Toledo, Inmaculada Garcia-Jimenez, Ignacio Arroyo, Andrea Campo, M. Luz Couce, M. Rosario Domingo-Jimenez, M. Teresa Garcia-Silva, Luis Gonzalez-Gutierrez-Solana, Loreto Hierro, Elena Martin-Hernandez, Mercedes Martinez-Pardo, Susana Roldan, Miguel Tomas, Jose C. Cabrera, Francisco Martinez-Bugallo, Lucia Martin-Viota, Isidro Vitoria-Minana, Dirk J. Lefeber, M. Luisa Giros, Mercedes Serrano Gimare, Magdalena Ugarte, Belen Perez, Celia Perez-Cerda
Article
Gastroenterology & Hepatology
Mar Miserachs, Arpita Parmar, Agnieszka Bakula, Loreto Hierro, Lorenzo D'Antiga, Imeke Goldschmidt, Dominique Debray, Valerie A. McLin, Valeria Casotti, Joanna Pawlowska, Carmen Camarena, Anthony R. Otley, Ulrich Baumann, Vicky L. Ng
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
(2019)
Article
Gastroenterology & Hepatology
Talia Sainz, Carolina Fernandez McPhee, Sara Dominguez-Rodriguez, Loreto Hierro, Maria Jose Mellado, Claudia Fortuny, Maria Dolores Falcon, Pere Soler-Palacin, Pablo Rojo, Jose Tomas Ramos, Cesar Gavilan, Carmelo Guerrero, Maria Del Carmen Diaz, Paloma Jara, Maria Luisa Navarro
JOURNAL OF VIRAL HEPATITIS
(2020)
Article
Gastroenterology & Hepatology
Daan B. E. van Wessel, Richard J. Thompson, Emmanuel Gonzales, Irena Jankowska, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipinski, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Deirdre A. Kelly, Gabriella Nebbia, Henrik Arnell, Bjoern Fischler, Jan B. F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Munoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsofi, Pier Luigi Calvo, Enke Grabhorn, Ekkehard Sturm, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Oezlem Durmaz, Zerrin Onal, Ton M. G. Bunt, Bettina E. Hansen, Henkjan J. Verkade
JOURNAL OF HEPATOLOGY
(2020)
Article
Gastroenterology & Hepatology
Bart G. P. Koot, Deirdre A. Kelly, Nedim Hadzic, Emmanuel Gonzales, Loreto Hierro, Mark Davenport, Radan Keil, Paul Fockens, Ulrich Baumann
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2020)
Article
Surgery
Daniele Dona, Juan Torres Canizales, Elisa Benetti, Mara Cananzi, Federica De Corti, Elisabetta Calore, Loreto Hierro, Esther Ramos Boluda, Marta Melgosa Hijosa, Luis Garcia Guereta, Antonio Perez Martinez, Maribel Barrios, Patricia Costa Reis, Ana Teixeira, Maria Francelina Lopes, Piotr Kalicinski, Sophie Branchereau, Olivia Boyer, Dominque Debray, Marco Sciveres, Lars Wennberg, Bjorn Fischler, Peter Barany, Alastair Baker, Ulrich Baumann, Nicolaus Schwerk, Emanuele Nicastro, Manila Candusso, Jacek Toporski, Etienne Sokal, Xavier Stephenne, Caroline Lindemans, Marius Miglinas, Jelena Rascon, Paloma Jara
CLINICAL TRANSPLANTATION
(2020)
Article
Gastroenterology & Hepatology
Jordi Colmenero, Manuel Rodriguez-Peralvarez, Magdalena Salcedo, Ana Arias-Milla, Alejandro Munoz-Serrano, Javier Graus, Javier Nuno, Mikel Gastaca, Javier Bustamante-Schneider, Alba Cachero, Laura Llado, Aranzazu Caballero, Ainhoa Fernandez-Yunquera, Carmelo Loinaz, Inmaculada Fernandez, Constantino Fondevila, Miquel Navasa, Mercedes Inarrairaegui, Lluis Castells, Sonia Pascual, Pablo Ramirez, Carmen Vinaixa, Maria Luisa Gonzalez-Dieguez, Rocio Gonzalez-Grande, Loreto Hierro, Flor Nogueras, Alejandra Otero, Jose Maria Alamo, Gerardo Blanco-Fernandez, Emilio Fabrega, Fernando Garcia-Pajares, Jose Luis Montero, Santiago Tome, Gloria De la Rosa, Jose Antonio Pons
Summary: This study revealed that liver transplant patients have a higher risk of contracting COVID-19, but their mortality rate is lower than the general population. Baseline immunosuppression containing mycophenolate was identified as an independent predictor of severe COVID-19, especially at higher doses.
JOURNAL OF HEPATOLOGY
(2021)
Article
Gastroenterology & Hepatology
Maureen M. Jonas, Susan Rhee, Deirdre A. Kelly, Antonio Del Valle-Segarra, Cornelia Feiterna-Sperling, Susan Gilmour, Regino P. Gonzalez-Peralta, Loreto Hierro, Daniel H. Leung, Simon C. Ling, Yuri Lobzin, Steven Lobritto, Tatsuki Mizuochi, Michael R. Narkewicz, Vishakha Sabharwal, Jessica Wen, Hoi Kei Lon, John Marcinak, Andrew Topp, Rakesh Tripathi, Etienne Sokal
Summary: The pediatric formulation of GLE/PIB was highly effective and well tolerated in children aged 3 to < 12 years with chronic HCV infection.
Article
Medicine, General & Internal
Emmanuel Gonzales, Winita Hardikar, Michael Stormon, Alastair Baker, Loreto Hierro, Dorota Gliwicz, Florence Lacaille, Alain Lachaux, Ekkehard Sturm, Kenneth D. R. Setchell, Ciara Kennedy, Alejandro Dorenbaum, Jana Steinmetz, Nirav K. Desai, Andrew J. Wardle, Will Garner, Pamela Vig, Thomas Jaecklin, Etienne M. Sokal, Emmanuel Jacquemin
Summary: Maralixibat showed safety and efficacy in children with Alagille syndrome, providing durable and clinically meaningful improvements in cholestasis. It may represent a new treatment paradigm for chronic cholestasis in Alagille syndrome.
Article
Gastroenterology & Hepatology
Maureen M. Jonas, Robert H. Squires, Susan M. Rhee, Chih-Wei Lin, Kazuhiko Bessho, Cornelia Feiterna-Sperling, Loreto Hierro, Deirdre Kelly, Simon C. Ling, Tatiana Strokova, Antonio del Valle-Segarra, Sandra Lovell, Wei Liu, Teresa I. Ng, Ariel Porcalla, Yuri Sanchez Gonzalez, Margaret Burroughs, Etienne Sokal
Article
Immunology
Tamara Moehring, Andre Karch, Christine S. Falk, Tobias Laue, Lorenzo D'Antiga, Dominique Debray, Loreto Hierro, Deirdre Kelly, Valerie McLin, Patrick McKiernan, Joanna Pawlowska, Piotr Czubkowski, Rafael T. Mikolajczyk, Ulrich Baumann, Imeke Goldschmidt
FRONTIERS IN IMMUNOLOGY
(2019)
Review
Gastroenterology & Hepatology
Leonard Depotte, Juliette Palle, Cosimo Rasola, Chloe Broudin, Vlad-Adrian Afrasanie, Antoine Mariani, Aziz Zaanan
Summary: Advanced gastric adenocarcinoma is a disease with poor prognosis. In recent years, new drugs, such as trastuzumab for HER2-positive tumors, ramucirumab alone or in combination with paclitaxel, and trifluridine-tipiracil, have improved patient survival. Other drugs, including monoclonal antibodies and targeted therapies, are also being evaluated.
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
(2024)
