Article
Food Science & Technology
Sunny Eloot, Jonathan De Rudder, Patrick Verloo, Evelyn Dhont, Ann Raes, Wim Van Biesen, Evelien Snauwaert
Summary: This study developed a user-friendly algorithm based on kinetic modeling for the treatment of acute neonatal hyperammonemia, allowing for personalized treatment based on measured changes in ammonia concentration during dialysis sessions.
Article
Pediatrics
Israel Eisenstein, Shirley Pollack, Amir Hadash, Danny Eytan, Ori Attias, Michael Halberthal, Josef Ben-Ari, Gad Bar-Joseph, Israel Zelikovic, Hanna Mandel, Galit Tal, Daniella Magen
Summary: This study retrospectively summarized the experience of using HD in 20 neonates with IEM-induced metabolic intoxication, showing that HD is safe, effective, and life-saving for most patients, when promptly performed by an experienced and multidisciplinary team.
PEDIATRIC NEPHROLOGY
(2022)
Article
Pediatrics
Esme Dunne, Daniel O'Reilly, Claire A. Murphy, Caoimhe Howard, Grainne Kelleher, Thomas Suttie, Michael A. Boyle, Jennifer J. Brady, Ina Knerr, Afif El Khuffash
Summary: Inborn errors of metabolism are rare but significant causes of mortality and morbidity in neonates. This study examines the contribution of newborn screening programs and clinician-initiated targeted biochemical screening to the identification of these errors. It also explores factors that may affect the reliability of metabolic testing in this population.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Review
Pediatrics
Konrad Kaminiow, Sylwia Kozak, Justyna Paprocka
Summary: Seizures in newborns, most commonly occurring during the neonatal period, can be caused by severe disorders of the central nervous system or immaturity of the infant's brain, with factors such as hypoxic-ischemic encephalopathy and CNS infections. Treatment and prognosis vary depending on the underlying cause of the seizures.
Article
Pediatrics
Marta Garcia Vega, Jose D. Andrade, Ana Morais, Esteban Frauca, Gema Munoz Bartolo, Maria D. Lledin, Ana Bergua, Loreto Hierro
Summary: Urea cycle disorders are metabolic errors caused by enzyme deficiency in converting ammonia to urea. The study describes the characteristics and indications of liver transplantation in UCD and found that neonatal forms were more severe, with higher mortality rates, while late forms had better outcomes with liver transplantation. However, the transplant's metabolic success was accompanied by neurological sequelae in most patients.
FRONTIERS IN PEDIATRICS
(2023)
Review
Endocrinology & Metabolism
Raffaele Falsaperla, Laura Sciuto, Luisa La Spina, Sarah Sciuto, Andrea D. Pratico, Martino Ruggieri
Summary: Neonatal seizures are a medical emergency that requires prompt diagnosis and treatment, with a particular focus on the possibility of an Inborn Error of Metabolism. An early diagnosis is crucial for better neurological outcomes, as delaying treatment may lead to drug resistance and poorer prognosis.
METABOLIC BRAIN DISEASE
(2021)
Article
Biology
Peter M. Masschelin, Pradip Saha, Scott A. Ochsner, Aaron R. Cox, Kang Ho Kim, Jessica B. Felix, Robert Sharp, Xin Li, Lin Tan, Jun Hyoung Park, Liping Wang, Vasanta Putluri, Philip L. Lorenzi, Alli M. Nuotio-Antar, Zheng Sun, Benny Abraham Kaipparettu, Nagireddy Putluri, David D. Moore, Scott A. Summers, Neil J. McKenna, Sean M. Hartig
Summary: Flavin adenine dinucleotide (FAD) interacts with flavoproteins to mediate oxidation-reduction reactions for cellular energy demands. Depleting FAD pools in mice causes phenotypes associated with organic acidemias and other inborn errors of metabolism (IEMs), such as reduced body weight, hypoglycemia, and fatty liver disease. The study reveals that B2D inhibits fasting activation of PPAR alpha target genes and downregulates gluconeogenesis genes. Knockdown of PPAR alpha in the liver recapitulates B2D effects, while treatment with the PPAR alpha agonist fenofibrate rescues fasting glucose availability and overcomes B2D phenotypes.
Article
Multidisciplinary Sciences
Yupeng Liu, Zhehui Chen, Lulu Kang, Ruxuan He, Jinqing Song, Yi Liu, Chunyan Shi, Junya Chen, Hui Dong, Yao Zhang, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang
Summary: In this study, the accuracy of prenatal diagnosis of MMA was increased by using amniotic fluid biochemical assays using GC/MS and LC/MS/MS in parallel. Propionylcarnitine was found to be a more reliable marker than methylmalonic acid in amniotic fluid. Total homocysteine (tHcy) is recommended for the prenatal diagnosis of combined MMA and homocysteinemia.
Article
Neurosciences
Konrad Kaminiow, Magdalena Pajak, Renata Pajak, Justyna Paprocka
Summary: Pyridoxine-dependent epilepsy (PDE) is a neurometabolic disorder caused by a deficiency of alpha-aminoadipic semialdehyde dehydrogenase, leading to seizure episodes that are responsive to vitamin B6 supplementation. Diagnosis and treatment of PDE can be challenging due to its rarity and delayed onset of seizures.
Article
Biochemistry & Molecular Biology
Falin He, Rulai Yang, Xinwen Huang, Yaping Tian, Xiaofang Pei, Mary Kathryn Bohn, Lin Zou, Yan Wang, Haibo Li, Ting Wang, Maosheng Gu, Tao Jiang, Xigui Chen, Hui Zou, Hongwei Wei, Weibing Tian, Tian Tang, Khosrow Adeli, Zhiguo Wang
Summary: This study investigated the dynamic trends of 35 MS/MS biomarkers and established age and sex-specific RIs, contributing to the current literature and timely evaluation of neonatal health and disease. Age and sex-specific RIs showed improved specificity over the RIs used in participating centers/laboratories, with females showing higher percentiles in most amino acids and males showing higher percentiles in most acylcarnitines.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Pediatrics
Umamaheswari Balakrishnan, Ashok Chandrasekaran, Prakash Amboiram, Binu Ninan, Sebatini Ignatious
Summary: This study evaluated the outcomes of infants diagnosed with IEM during the neonatal period in South India. Despite the low detection rate of NBS, early diagnosis of IEM remains crucial as it can help in early management and improve prognosis. Infants presenting with encephalopathy usually have a poorer prognosis.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Endocrinology & Metabolism
M. Petrisano, S. Sestito, L. Castaldo, S. Ferraro, M. Miraglia Del Giudice, S. Leonardi, M. D. Ceravolo, C. Cuppari, A. Salpietro, R. Gallizzi, L. Pensabene, D. Concolino
Summary: Inborn errors of metabolism (IEM) can manifest as emergencies during acute metabolic decompensation, necessitating specific treatments to prevent morbidity and mortality. Metabolic imbalance is often triggered by diet or concurrent illnesses, with nonspecific symptoms that increase the risk of missed diagnosis. The principle of acute management is to halt further decompensation and ensure adequate metabolic requirements are met.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2022)
Article
Nutrition & Dietetics
Meriah S. Schoen, Usha Ramakrishnan, Jessica A. Alvarez, Thomas R. Ziegler, Xiangqin Cui, Rani H. Singh
Summary: This study compared choline consumption among individuals with phenylketonuria (PKU) to a reference sample and identified factors that may affect choline needs. The findings suggest that only a small percentage of PKU patients achieve adequate choline intake, and treatment methods can impact choline levels. Without fortified medical foods, choline and other related nutrient intake may be reduced. Regular monitoring of choline intake and increased fortification of medical foods could benefit this population.
Article
Oncology
Jeong-Seon Lee, Hye Young Jin, Jung Min Ko, Seoung Hoon Kim, Nayoung Han, Byung Kiu Park, Meerim Park, Hyeon Jin Park, Jun Ah Lee
Summary: FLHCC is a rare type of liver cancer that can lead to HAE in patients. With no management guidelines available for cancer-related HAE, treatment options such as continuous venovenous hemofiltration, medication, and surgery have shown to be effective in managing this serious metabolic complication.
CANCER RESEARCH AND TREATMENT
(2021)
Article
Nutrition & Dietetics
Liali Aljouda, Laura Nagy, Andreas Schulze
Summary: This study investigated the effectiveness of a diet restricted in long-chain triglycerides (LCTs) and supplemented with medium-chain triglycerides (MCTs) in reducing triglyceride levels and symptoms in children with lipoprotein lipase (LPL) deficiency. Results showed that the diet led to a significant drop in triglyceride levels in LPL patients and no disease-specific manifestations or complications. The study suggests that the LCT-restricted and MCT-supplemented diet is a feasible, well-tolerated, and clinically effective long-term management option for pediatric patients with LPL deficiency.
Review
Pediatrics
Ian K. Hewitt, Giovanni Montini, Stephen D. Marks
Summary: VUR is a common occurrence in children and young people, especially in those without an anti-reflux procedure. The certainty of outcomes when VUR is associated with UTI and transplant pyelonephritis is uncertain. Additional risk factors and practical strategies to reduce infection prevalence need to be explored.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Georgia Malakasioti, Daniela Iancu, Anastasiia Milovanova, Alexey Tsygin, Tomoko Horinouchi, China Nagano, Kandai Nozu, Koichi Kamei, Shuichiro Fujinaga, Kazumoto Iijima, Rajiv Sinha, Biswanath Basu, William Morello, Giovanni Montini, Aoife Waters, Olivia Boyer, Zeynep Yuruk Yildirim, Sibel Yel, Ismail Dursun, Hugh J. McCarthy, Marina Vivarelli, Larisa Prikhodina, Martine T. P. Besouw, Eugene Yu-hin Chan, Wenyan Huang, Markus J. Kemper, Sebastian Loos, Chanel Prestidge, William Wong, Galia Zlatanova, Rasmus Ehren, Lutz T. Weber, Hassib Chehade, Nakysa Hooman, Marcin Tkaczyk, Malgorzata Stanczyk, Michael Miligkos, Kjell Tullus
Summary: A retrospective study was conducted on 203 cases of children with monogenic steroid-resistant nephrotic syndrome (SRNS) treated with a calcineurin inhibitor (CNI). The study found that a partial or full response was observed in a significant percentage of patients. Patients with higher serum albumin levels at the initiation of CNI treatment were more likely to achieve significant remission. These findings support the use of CNI treatment in children with monogenic SRNS.
KIDNEY INTERNATIONAL
(2023)
Article
Multidisciplinary Sciences
Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milosevic, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simos e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson
Summary: In this study, a multi-population GWAS meta-analysis was conducted to investigate the genetic architecture of pSSNS. Twelve significant associations were discovered, including novel loci and specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 that drive the HLA Class II risk locus. Non-HLA loci were found to colocalize with eQTLs of monocytes and T-cell subsets. The findings provide insights into the molecular drivers of pSSNS and highlight the importance of evaluating these associations in different populations.
NATURE COMMUNICATIONS
(2023)
Article
Pediatrics
Giulia Lucignani, Leonardo Vattermoli, Maria Camilla Rossi-Espagnet, Alessia Guarnera, Antonio Napolitano, Lorenzo Figa-Talamanca, Francesca Campi, Sara Ronci, Carlo Dionisi Vici, Diego Martinelli, Carlo Gandolfo, Daniela Longo
Summary: Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive inborn error of metabolism caused by gene mutations, resulting in neurotoxicity and early neurodegeneration. MRI is the imaging of choice for diagnosis, showing characteristic radiological findings such as diffuse cerebral edema, infarction, and multicystic encephalomalacia. Our case report presents a novel contrast-enhanced MRI pattern characterized by diffuse and linear leptomeningeal enhancement, which was performed to exclude an infectious disease. Early identification of MoCD is crucial for prompt and effective management of the complications.
Article
Pediatrics
Bagdagul Aksu, Alberto Caldas Afonso, Ipek Akil, Harika Alpay, Bahriye Atmis, Ozlem Aydog, Aysun Karabay Bayazit, Meral Torun Bayram, Ilmay Bilge, Ipek Kaplan Bulut, Bahar Buyukkaragoz, Elif Comak, Belde Kasap Demir, Nida Dincel, Osman Donmez, Mehmet Akif Durmus, Hasan Dursun, Ruhan Dusunsel, Ali Duzova, Pelin Ertan, Asuman Gedikbasi, Nilufer Goknar, Sercin Guven, Duygu Hacihamdioglu, Augustina Jankauskiene, Mukaddes Kalyoncu, Salih Kavukcu, Bahriye Uzun Kenan, Nuran Kucuk, Bahar Kural, Mieczyslaw Litwin, Giovanni Montini, William Morello, Lukasz Obrycki, Beyhan Omer, Huseyin Adil Oner, Ebru Misirli Ozdemir, Nese Ozkayin, Dusan Paripovic, Cemile Pehlivanoglu, Seha Saygili, Franz Schaefer, Susanne Schaefer, Ferah Sonmez, Yilmaz Tabel, Nesrin Tas, Mehmet Tasdemir, Ana Teixeira, Demet Tekcan, Rezan Topaloglu, Sebahat Tulpar, Ozde Nisa Turkkan, Berfin Uysal, Metin Uysalol, Renata Vitkevic, Sevgi Yavuz, Sibel Yel, Tarik Yildirim, Zeynep Yuruk Yildirim, Nurdan Yildiz, Selcuk Yuksel, Eray Yurtseven, Alev Yilmaz
Summary: This study aimed to determine whether soluble Toll-like receptor 4 (sTLR4), soluble Toll-like receptor 5 (sTLR5), and interleukin 8 (IL-8) could be used as biomarkers to diagnose urinary tract infection (UTI) and investigate the relationship between urine Heat Shock Protein 70 (uHSP70) and these biomarkers. The results showed that urine sTLR4 levels were higher in the UTI group and could be used as a cutoff point of 1.28 ng/mL to predict UTI with a sensitivity of 68% and specificity of 65%.
PEDIATRIC NEPHROLOGY
(2023)
Review
Medicine, General & Internal
Stefano Turolo, Alberto Edefonti, Marie Luise Syren, Giovanni Montini
Summary: Kidney transplantation is the preferred treatment for end-stage kidney disease. However, allograft rejection remains a challenge. Personalized medicine and precision medicine offer great potential in improving drug efficacy and minimizing toxicity for each patient. This review focuses on the pharmacogenomics of immunosuppressive drugs used in kidney transplantation, specifically the genes involved in their metabolism.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Deborah Mattinzoli, Stefano Turolo, Masami Ikehata, Simone Vettoretti, Giovanni Montini, Carlo Agostoni, Costanza Conti, Matteo Benedetti, Piergiorgio Messa, Carlo Maria Alfieri, Giuseppe Castellano
Summary: During CKD progression, there is an increase in FGF23 and a positive correlation between FGF23 and n-6 PUFAs. However, our study found that the relationship between FGF23, PUFAs, and MCP1 may differ in CKD and KTx patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Meeting Abstract
Pediatrics
Olga Caporale, Sara Testa, Marco Cazzaniga, Maria Viganoni, Marta Brambilla, Giovanni Montini
PEDIATRIC NEPHROLOGY
(2023)
Meeting Abstract
Pediatrics
Robin Erickson, Nivedita Kamath, Hesham Safouh, Giovanni Montini, Melvin Bonilla-Felix
PEDIATRIC NEPHROLOGY
(2023)
Meeting Abstract
Pediatrics
Sara Testa, Olga Caporale, Marco Cazzaniga, Maria Viganoni, Giovanni Montini
PEDIATRIC NEPHROLOGY
(2023)
Meeting Abstract
Pediatrics
Federica Alessandra Vianello, William Morello, Jessica Serafinelli, Antonio Mastrangelo, Chiara Bulgaro, Anita Bellotti, Emanuele Proverbio, Giovanni Montini
PEDIATRIC NEPHROLOGY
(2023)
Meeting Abstract
Pediatrics
Sara Testa, Olga Caporale, Marco Cazzaniga, Maria Viganoni, Giovanni Montini
PEDIATRIC TRANSPLANTATION
(2023)
Meeting Abstract
Pediatrics
Sara Testa, Marco Cazzaniga, Olga Caporale, Chiara Tamburello, Massimo Oggioni, Ferruccio Ceriotti, Maria Viganoni, Giovanni Montini
PEDIATRIC TRANSPLANTATION
(2023)
Review
Pediatrics
Ian K. Hewitt, Derek J. Roebuck, Giovanni Montini
Summary: There are differences between pediatricians and surgeons in the investigation and management of a first febrile UTI in children. Pediatricians are more inclined towards a watchful-waiting approach with fewer imaging and interventions, while surgeons are more likely to recommend imaging, antibiotic prophylaxis, and surgical correction if an abnormality is detected.
PEDIATRIC RADIOLOGY
(2023)
Meeting Abstract
Endocrinology & Metabolism
Giampiero Baroncelli, Pasquale Comberiati, Maria Rita Sessa, Caterina Pelosini, Anna Grandone, Rosanna Camodeca, Francesco Emma
HORMONE RESEARCH IN PAEDIATRICS
(2022)