Results 51 to 60 of about 8,302 (215)

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Exercise affects systemic basophil responses in humans: Applying an automated and modified basophil activation test (mBAT) in a field study

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Basophils are effector cells in type I hypersensitivity reactions. Upon cross‐linking of surface‐bound (allergen‐specific) IgE, basophils release a variety of mediators. Determining the activation of basophils ex vivo with anti‐IgE (a basophil activation test or BAT) can be achieved using flow cytometry.
T. C. Pelgrim, B. N. Jukema, L. Koopmans, C. C. W. G. Bongers, M. T. E. Hopman, E. F. Knol, N. Vrisekoop, L. Koenderman   +7 more
wiley   +1 more source

Peroxisomal chain-shortening of thromboxane B2: evidence for impaired degradation of thromboxane B2 in Zellweger syndrome

Journal of Lipid Research, 1993
We have shown that rat liver peroxisomes can chain-shorten prostaglandins to dinor- and tetranor-metabolites. In a recent in vivo study we could demonstrate that peroxisomes are of major importance for chain-shortening of prostaglandin F2 alpha in humans
U Diczfalusy, O Vesterqvist, BF Kase, E Lund, SE Alexson   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Control of mitochondrial dynamics and apoptotic pathways by peroxisomes

Frontiers in Cell and Developmental Biology, 2022
Peroxisomes are organelles containing different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. Peroxisome biogenesis is controlled by a family of proteins called peroxins,
Chenxing Jiang, Tomohiko Okazaki
doaj   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source

Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis

Cells, 2022
The AAA-ATPases Pex1 and Pex6 are required for the formation and maintenance of peroxisomes, membrane-bound organelles that harbor enzymes for specialized metabolism.
Ryan M. Judy, Connor J. Sheedy, Brooke M. Gardner   +2 more
doaj   +1 more source

WSES classification and guidelines for liver trauma [PDF]

, 2016
The severity of liver injuries has been universally classified according to the American Association for the Surgery of Trauma (AAST) grading scale. In determining the optimal treatment strategy, however, the haemodynamic status and associated injuries ...
Abu-Zidan, Fikri M., Ansaloni, Luca, Biffl, Walter, Catena, Fausto, Ceresoli, Marco, Coccolini, Federico, Coimbra, Raul, Fraga, Gustavo, Ivatury, Rao, Kluger, Yoram, Montori, Giulia, Moore, Ernest E., Moore, Frederick A., Naidoo, Noel, Peitzman, Andrew, Rizoli, Sandro, Sartelli, Massimo, Weber, Dieter, Zanini, Nicola   +18 more
core   +2 more sources

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

Inborn errors of metabolism: a three-year experience

Journal of Behçet Uz Children's Hospital, 2019
INTRODUCTION: The deficiency or absence of an enzyme or cofactor in the metabolic pathway leads to the formation or accumulation of a specific metabolite resulting in inborn errors of metabolism (IEM).The neonate who is, usually, born healthy at birth ...
Ferit Kulalı, Melis Köse, Tuğçe Candan Çelik, Ezgi Yangın Ergon, Oğuz Han Kalkanlı, Rüya Çolak, Meral Yıldız, Senem Alkan Özdemir, Tülin Gökmen Yıldırım, Şebnem Çalkavur   +9 more
doaj   +1 more source