Results 41 to 50 of about 2,490 (187)

OSTEOBLASTOMA OF THE HUMERUS ASSOCIATED WITH TYPE-I GAUCHER’S DISEASE

, 1996
We report a unique case of juxtacortical osteoblastoma of the humeral shaft, which simulated the appearance of an extraosseous extension of Gaucher-cell deposits. The tumour was treated successfully by curettage and bone grafting.
G. Pastores, G. Hermann, S. Kenan, M. Klein, I. F. Abdelwahab   +4 more
core   +1 more source

PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]

Romanian Journal of Pediatrics, 2009
This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
doaj   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +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

Gaucheroma of Mesenteric Lymph Nodes and Their Ultrasound Appearance: A Case Report

Journal of the Belgian Society of Radiology, 2023
Gaucher disease represents the largest lysosomal storage disease group worldwide. Possible complications include the development of Gaucheromas, pseudotumors resulting from an accumulation of Gaucher cells. Gaucheromas can affect the liver, spleen, bones,
Thomas Saliba, Paolo Simoni, Aurélie Empain, Alessandro De Leucio   +3 more
doaj   +1 more source

God's Presence in the Aisle: How God Salience Encourages Preference for Ultra‐Processed Foods

Psychology &Marketing, EarlyView.
ABSTRACT God‐related cues are pervasive in consumers' daily lives, yet little research has examined how God salience shapes consumer food choices. Drawing on compensatory control theory and the literature on symbolic healing, we present findings from six studies, including a field experiment, demonstrating that high (vs.
Ali Gohary, Hean Tat Keh
wiley   +1 more source

Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher’s disease type 3a

, 2000
Among three recognised clinical phenotypes, type 3a Gaucher’s disease is characterised by mild to severe systemic disease, neurological manifestations and myoclonic seizures.
Tüzün, Erdem, GURSES, C, Gökyİgİt, Ayşen, GOKYIGIT, Ayşen Zehra, Baykan, Betül, Gürses, Candan   +5 more
core   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Inhibition of microglial β-glucocerebrosidase hampers the microglia-mediated antioxidant and protective response in neurons

Journal of Neuroinflammation, 2021
Background Homozygotic mutations in the GBA gene cause Gaucher’s disease; moreover, both patients and heterozygotic carriers have been associated with 20- to 30-fold increased risk of developing Parkinson’s disease. In homozygosis, these mutations impair
Electra Brunialti, Alessandro Villa, Marianna Mekhaeil, Federica Mornata, Elisabetta Vegeto, Adriana Maggi, Donato A. Di Monte, Paolo Ciana   +7 more
doaj   +1 more source