Results 51 to 60 of about 51,379 (259)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Development of a Parturition Detection System for Korean Native Black Goats

Animals
Korean Native Black Goats deliver mainly during the cold season. However, in winter, there is a high risk of stunted growth and mortality for their newborns.
Heungsu Kim, Hyunse Kim, Woo H. Kim, Wongi Min, Geonwoo Kim, Honghee Chang   +5 more
doaj   +1 more source

Oocyst excretion pattern of three intestinal Eimeria species in female rabbits

World Rabbit Science, 2013
The dynamic change in faecal Eimeria oocyst excretion was evaluated in 10 naturally infected female rabbits, starting from their weaning at 33 d of age until about 1 mo after their second parturition.
Cristiano Papeschi, Gianluca Fichi, Stefania Perrucci   +2 more
doaj   +1 more source

Q fever in pregnant goats: pathogenesis and excretion of Coxiella burnetii. [PDF]

PLoS ONE, 2012
Coxiella burnetii is an intracellular bacterial pathogen that causes Q fever. Infected pregnant goats are a major source of human infection. However, the tissue dissemination and excretion pathway of the pathogen in goats are still poorly understood.
Hendrik-Jan Roest, Betty van Gelderen, Annemieke Dinkla, Dimitrios Frangoulidis, Fred van Zijderveld, Johanna Rebel, Lucien van Keulen   +6 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

15-Ketodihydro-PGF_2α, Progesterone and Cortisol Profiles in Heifers after Induction of Parturition by Injection of Dexamethasone

Acta Veterinaria Scandinavica, 2001
In order to study rapid changes in 15-ketodihydro-PGF2α, cortisol and progesterone in the period preceding parturition in cattle, pre-term parturition was induced in 4 late pregnant heifers.
Parvizi N, Gustafsson H, Kindahl H, Kask K, Königsson K   +4 more
doaj   +1 more source

PERIPARTURIENT CHANGES IN SOME BLOOD CONSTITUENTS AND MAMMARY GLAND SECRETIONS OF FRIESIAN COWS [PDF]

Veterinary Medical Journal - Giza, 2003
A total of 16 pregnant multiparous Friesian cows used to study changes in some blood constituents and mammary secretions around parturition (-7 through +7 days).
Y HAFEZ, S IBRAHIM, ZENAT B RABIE, ALEYAT A HASSANEIN   +3 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

A fine‐scale examination of parturition timing in temperate ungulates

Ecology and Evolution
Parturition timing has long been a topic of interest in ungulate research. However, few studies have examined parturition timing at fine scale (e.g.,
Matthew T. Turnley, Tabitha A. Hughes, Randy T. Larsen, Kent R. Hersey, Matthew S. Broadway, M. Colter Chitwood, W. Sue Fairbanks, Robert C. Lonsinger, Brock R. McMillan   +8 more
doaj   +1 more source