Results 141 to 150 of about 70,377 (295)

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness

The Turkish Journal of Pediatrics, 2009
Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss.
Hasan Onal, Safa Bariş, Mine Ozdil, Gözde Yeşil, Gürkan Altun, Isa Ozyilmaz, Ahmet Aydin, Tiraje Celkan   +7 more
doaj  

Prurigo Pigmentosa – an increasingly diagnosed dermatological condition associated with ketogenic diet

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
SUMMARY Prurigo pigmentosa (PP) is a rare inflammatory dermatosis, clinically characterized by intensely pruritic, erythematous papules and papulovesicles, with reticular hyperpigmentation upon healing. We herein report four cases in adults of different ethnic backgrounds, in which the disease was associated with ketogenic metabolic states due to ...
Antigona Aliu, Milan Vidakovic, Marcel Krauß, Julia Hyun, Frank Oellig, Thilo Gambichler, Valentina Laura Müller, Alexander Kreuter   +7 more
wiley   +1 more source

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source

A Case of Anaphylaxis to Intramuscular but Not to Oral Application of Thiamine (Vitamin B1)

Iranian Journal of Allergy, Asthma and Immunology, 2018
We report a 78 year-old non-atopic female with polyneuropathy who started to receive monthly intramuscular injections of thiamine hydrochloride. She had an anaphylaxis after the fourth injection.
Stefanie Aurich, Jan-Christoph Simon, Regina Treudler   +2 more
doaj  

S‐Adenosylmethionine (SAM) hydrolases counter increased SAM epimerisation in thermophilic archaea

The FEBS Journal, EarlyView.
S‐Adenosyl‐l‐methionine (SAM) is a vital enzyme cofactor. Epimerisation at the sulfonium centre of biologically active (SS,SCα)‐SAM is driven by heat, yielding biologically inactive (RS,SCα)‐SAM. Here, two novel archaeal SAM hydrolases from the thermophilic Sulfolobus acidocaldarius and the halophilic Haloferax volcanii are shown to cleave (RS,SCα)‐SAM.
Agnes Bartels, Michael K. F. Mohr, Phillip Nußbaum, Marie Joest, Bianca Wassmer, Laurent Rasquin, Sonja‐Verena Albers, Jennifer N. Andexer   +7 more
wiley   +1 more source

1H NMR metabolomics and lipidomics analysis of neutrophils reveals biomarkers of ageing, inflammageing and frailty

The FEBS Journal, EarlyView.
Using 1H NMR metabolomics, we measured polar and lipid metabolites from human blood neutrophils from people with frailty (n = 31, mean age 84Y), people with rheumatoid arthritis (n = 16, mean age 55Y), robust older (n = 24, mean age 66Y) and healthy younger people (n = 21, mean age 22Y).
Genna Ali Abdullah, Grace Filbertine, Lucy Gill, Asangaedem Akpan, Marie M. Phelan, Helen Louise Wright   +5 more
wiley   +1 more source

Metabolic mRNA insufficiency of single cells: Implications for drug targeting and resistance

The FEBS Journal, EarlyView.
Because none of the single‐cell mRNA profiles of growing cell populations encoded any pathway towards cell growth, we used cluster‐averaged transcriptomes to estimate protein‐constrained Vmax's and identify (combinations of) subpopulation‐specific targets to overcome drug resistance. (Graphical Abstract was created in BioRender. Liu, Y. (2026). https://
Yanhua Liu, Hans V. Westerhoff
wiley   +1 more source

A comprehensive study on ferredoxin isoforms in the cyanobacterium Synechocystis sp. PCC 6803

The FEBS Journal, EarlyView.
Ferredoxins are small FeS cluster‐containing proteins that play a central role in distributing electrons within the cell. The cyanobacterium Synechocystis sp. PCC 6803 contains several ferredoxin isoforms and their biophysical properties (UV/Vis and EPR spectra, Em potential), expression patterns, and interactions with the electron donors photosystem I
Marko Boehm, Drazenka Svedruzic, Carolyn E. Lubner, Jens Appel, David W. Mulder, Effie C. Kisgeropoulos, Vanessa Hueren, Katharina Spengler, Vivek S. Bharadwaj, Zhanjun Guo, Anastasia E. Ledinina, Darja Deobald, Lorenz Adrian, Paul W. King, Kirstin Gutekunst   +14 more
wiley   +1 more source

Mortality in Salmon (Salmo salar) Fry Related to Lipoid Liver Disease Induced by Unbalanced Fatty Acid Composition of the Diet

Journal of Fish Diseases, EarlyView.
ABSTRACT In 2023, all but one Swedish restocking farm rearing Baltic salmon and sea trout fry experienced massive mortality caused by lipoid liver disease (LLD). The struck farms used the same feed, and this was suspected to be the cause of the outbreak.
Caroline Ek, Lo Persson, Charlotte Axén
wiley   +1 more source

Auxin response and PIN‐mediated transport in chlorophyte algae

Journal of Integrative Plant Biology, EarlyView.
Like multicellular plants, green algae respond to auxin and move it across their cells. However, their PIN‐like proteins do not act like plant auxin exporters, suggesting that basic auxin transport evolved early and specialized directional transport appeared later in plant evolution.
Adrijana Smoljan, Sarah Koutnik‐Abele, Dmitrii Vladimirtsev, Petr Klíma, Anita Bírošíková, Yuzhou Zhang, Jack Merrin, Maximilian Schuster, Katarina Kurtović, Ulrich Z. Hammes, Jan Petrášek, Jiří Friml   +11 more
wiley   +1 more source