Results 81 to 90 of about 350 (155)

Air embolism secondary to suspected lymphatic tissue disruption with severe exercise‐induced pulmonary haemorrhage

Equine Veterinary Education, EarlyView.
Summary Air embolism is rare in horses and typically associated with complications following intravenous catheterisation or other medical procedures. Exercise‐induced pulmonary haemorrhage (EIPH) is common in racehorses but not usually associated with air embolism. This report describes a case of air embolism in a 4‐year‐old Thoroughbred with EIPH. The
J. Wittenberg, K. Drozdzewska, K. Landmann, A. Voß, K. Kunze, D. Rutenberg, A. D. Gruber, H. Gehlen   +7 more
wiley   +1 more source

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model

Neurobiology of Disease
Creatine transporter deficiency (CTD) is an inborn error of creatine (Cr) metabolism in which Cr is not properly distributed to the brain due to a mutation in the Cr transporter (CrT) SLC6A8 gene.
Clémence Disdier, Amélie Soyer, Léa Broca-Brisson, Sébastien Goutal, Anne-Cécile Guyot, Nora Ziani, Louise Breuil, Alexandra Winkeler, Gaëlle Hugon, Thomas Joudinaud, Henri Bénech, Jean Armengaud, Matthew R. Skelton, Rania Harati, Rifat A. Hamoudi, Nicolas Tournier, Aloïse Mabondzo   +16 more
doaj   +1 more source

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Orphanet Journal of Rare Diseases, 2012
Background SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM ...
Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni   +9 more
doaj   +1 more source

Real‐World Use of Emicizumab in Patients With Acquired Haemophilia A: An Interim Safety Analysis of a Large‐Scale Post‑Marketing Surveillance Study

Haemophilia, EarlyView.
ABSTRACT Introduction Acquired haemophilia A (AHA) is a rare autoimmune disorder where the development of autoantibodies to factor (F)VIII neutralise its function, leading to bleeding. Emicizumab has been approved for treating AHA in Japan. Aim This post‐marketing study was performed to primarily examine the use and safety of emicizumab, and indirectly
Midori Shima, Katsuyuki Fukutake, Yoshiyuki Ogawa, Yuta Kamei, Chiaki Sugita, Akinori Yuri, Ryota Kobayashi, Akiko Ioka, Tadashi Matsushita   +8 more
wiley   +1 more source

Efeito antidepressivo e neuroprotetor da creatina [PDF]

, 2013
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Neurociências, Florianópolis, 2013.A creatina modula a bioenergética celular e apresenta efeito antiexcitotóxico, antioxidante e ...
Cunha, Maurício Peña
core  

Paroxysmal sympathetic hyperactivity secondary to hypoglycemic encephalopathy: A case report

Journal of Diabetes Investigation, EarlyView.
ABSTRACT A 48‐year‐old male was admitted to our hospital due to a hypoglycemic coma. Although his blood glucose level was increased after glucose administration, his impaired consciousness persisted. Magnetic resonance imaging indicated hypoglycemic encephalopathy.
Yushi Kohzuki, Junpei Yamamoto, Yuki Kaminaga, Yoko Kayaba, Hiroshi Onodera, Masahiro Usui   +5 more
wiley   +1 more source

Biochemical and clinical characteristics of creatine deficiency syndromes.

, 2004
Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine ...
Sykut-Cegielska, Jolanta, Stöckler-Ipsiroglu, Sylvia, Mercimek-Mahmutoglu, Saadet, Gradowska, Wanda   +3 more
core  

Cerebral H-1 MR spectroscopy showing elevation of brain guanidino acetate in argininosuccinate lyase deficiency

, 2006
MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guanidinoacetate signals, indicating that the phenomenon of increased levels of this compound in brain tissue is not limited to creatine deficiencies.
van Spronsen, FJ, Reijngoud, DJ; id_orcid, Soorani-Lunsing, RJ, Oudkerk, M, Oudkerk, M; id_orcid, Sijens, PE, Reijngoud, DJ   +6 more
core   +1 more source

Assessment of Creatine Levels in Patients with Vitamin B6-Responsive Gyrate Atrophy Using Magnetic Resonance Spectroscopy after Vitamin B6 Administration

SVU - International Journal of Medical Sciences
Background: Gyrate atrophy of the choroid and retina (GACR) is an autosomal recessive metabolic disorder caused by mutations in the ornithine aminotransferase (OAT) gene.
Amira Mobarak , Ahmed Elsharkawy , Rofaida M. Magdy , Mohamed M. Hassan , Alaa Mohamed Reda   +4 more
doaj   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source