Results 81 to 90 of about 26,855 (306)

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

Journal of the Formosan Medical Association, 2006
Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang, Kai-Lin Chu, Yin-Hsiu Chien, Ming-Lee Wei, Shu-Tzu Wu, Shiao-Fang Wang, Wuh-Liang Hwu   +6 more
doaj   +1 more source

Recon 2.2: from reconstruction to model of human metabolism. [PDF]

, 2016
IntroductionThe human genome-scale metabolic reconstruction details all known metabolic reactions occurring in humans, and thereby holds substantial promise for studying complex diseases and phenotypes.
Ang, Kok Siong, Borth, Nicole, Brewer, Judy, Dobson, Paul D, Gardiner, Natalie J, Gutierrez, Jahir M, Hanscho, Michael, Hefzi, Hooman, Kell, Douglas B, Kyriakopoulos, Sarantos, Lakshmanan, Meiyappan, Lee, Dong-Yup, Lewis, Nathan E, Li, Shangzhong, Liu, Joanne K, Martínez, Veronica S, Mendes, Pedro, Nielsen, Lars K, Orellana, Camila A, Quek, Lake-Ee, Smallbone, Kieran, Swainston, Neil, Thomas, Alex, Zanghellini, Juergen, Zielinski, Daniel C   +24 more
core   +5 more sources

Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome

Arthritis &Rheumatology, EarlyView.
Serum cytokine profiling was performed using Luminex (48 cytokines) and ELISA (5 cytokines). Assessment of key cytokines (IFN‐α, IL‐18, IL‐6, CXCL9) delineated five dominant inflammatory patterns: I, IFN‐α–dominant CSS; II, IL‐18–dominant CSS; III, IL‐6–dominant CSS; IV, IFN‐γ–dominant CSS; and V, IL‐6 & IFN‐γ intermediate CSS.
Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu   +42 more
wiley   +1 more source

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia [PDF]

, 2012
Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in ...
Applegarth, Applegarth, Eun Sun Kim, Foster, Heindel, Huisman, Hyung Doo Park, Jeong Hee Shin, Ji Hun Shin, Ji Hye Kim, Ji Mi Jung, Jin Kyu Kim, Kikuchi, Korman, Korman, Kreis, Kure, McDonald, McDonald, Mourmans, Naas, Perry, Press, Se In Sung, Snider, So Yoon Ahn, Suzuki, Viola, Won Soon Park, Yun Sil Chang, Zammarchi   +30 more
core   +1 more source

Transient Hyperammonemia of the Newborn: A Case Study [PDF]

Iranian Journal of Neonatology, 2018
Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the degree
Amir Kamal Hardani, Majid Aminzadeh
doaj   +1 more source

Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]

, 2012
Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny, Boland, Torrey Ann, Chou, Sherry Hsiang-Yi, Murray, Michael, Vaitkevicius, Henrikas   +4 more
core   +2 more sources

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Effects of Renal and Hepatic Impairment on the Pharmacokinetics of Zilurgisertib

British Journal of Clinical Pharmacology, EarlyView.
Aim Small‐molecule activin receptor‐like kinase‐2 inhibitor zilurgisertib (INCB000928) is under investigation in a pivotal trial for the treatment of fibrodysplasia ossificans progressiva (FOP), an ultrarare genetic condition. This analysis assessed effects of renal and hepatic impairment on zilurgisertib pharmacokinetics.
Yan‐ou Yang, Yunlan Fang, Phillip Wang, Xiang Liu, Jay Getsy, Kevin Rockich   +5 more
wiley   +1 more source

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]

, 2019
Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna, Kim, Kyoungmi, Litwin, Tomasz, Mazi, Tagreed A, Medici, Valentina, Sarode, Gaurav V, Shibata, Noreene M   +6 more
core   +2 more sources