Results 121 to 130 of about 404,776 (250)

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

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Laboratory Diagnostics of Aspergillosis: Present State and Future Directions. [PDF]

J Fungi (Basel)
Tomazin R, Matos T.
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Serum fetuin-A levels in patients with type 2 diabetes mellitus

Current Issues in Pharmacy and Medical Sciences
Fetuin-A is a multifunctional circulating glycoprotein that inhibits ectopic vascular calcification and induces insulin resistance in animals and humans.
Beata Wojtysiak-Duma, Arleta Malecha-Jędraszek, Agata Burska, Dariusz Duma, Helena Donica   +4 more
doaj  

Laboratory Diagnostics of Botulism Cases in Livestock in Poland in 2022-2024. [PDF]

Pathogens
Jarosz A, Sapała M, Grenda T.
europepmc   +1 more source

An Update on Laboratory Diagnostics in Haemophilia A and B. [PDF]

Hamostaseologie, 2022
Müller J, Miesbach W, Prüller F, Siegemund T, Scholz U, Sachs UJ, Standing Commission Labor (STAEKOLA) of the Society of Thrombosis and Haemostasis Research (GTH).   +6 more
europepmc   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Laboratory diagnostics and follow-up of medullary thyroid cancer. [PDF]

J Mol Endocrinol
Giovanella L, D'Aurizio F, Petranović Ovčariček P, Hillebrand JJ.   +3 more
europepmc   +1 more source

FASCIA Method in the Assessment of Lymphocyte Mitogen Responses in the Laboratory Diagnostics of Primary Immunodeficiencies. [PDF]

J Clin Immunol, 2023
Lusila P, Toivonen A, Jarva H, Vettenranta K, Lehtimäki S, Kekäläinen E.   +5 more
europepmc   +1 more source