Results 71 to 80 of about 1,965 (163)

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS

Slovenska pediatrija, 2022
Mucopolysaccharidoses are a group of rare lysosomal storage diseases. The clinical signs develop gradually, the impairment is progressive and multiple organs are affected. With the currently known treatment options, the patient cannot be cured.
Benjamin Lah, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, Urh Grošelj   +7 more
doaj   +1 more source

Beyond diabetes and obesity: GLP‐1 receptor agonists in disrupting the vicious cycle of metabolic dysfunction and neuroinflammation

Diabetes, Obesity and Metabolism, Volume 28, Issue 3, Page 1622-1637, March 2026.
Abstract Neurodegenerative diseases, including debilitating conditions like Alzheimer's and Parkinson's, are characterized by progressive neuronal loss, a process fundamentally driven by persistent chronic neuroinflammation and central metabolic dysfunction.
Renata Spezani, Carlos A. Mandarim‐de‐Lacerda   +1 more
wiley   +1 more source

Musculoskeletal anomalies in children with Mucopolysaccaridoses

Гений oртопедии, 2021
Introduction The accumulation of glycosaminoglycan (GAGs) in the tissues in Mucopolysaccharidoses (MPS) can lead to skeletal anomalies (DYSOSTOSIS MULTIPLEX) and to soft tissue impairments (neural or medullar compression, joint stiffness, tenosynovitis).
Florence Müller, Khaled Alomar, Pierre Journeau   +2 more
doaj   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Importance of the combined urinary procedure for the diagnosis of Mucopolysaccharidoses

, 2016
Mucopolysaccharidoses are characterized by the accumulation of undegraded glycosaminoglycans in lysosomes in multiple organs and by their excretion in high amounts in urine.
Marchesiello, Rita Lucia, SANTORO, LUCIA, MONACHESI, Chiara, CATASSI, CARLO, PADELLA, LUCIA, GIOVAGNONI, ANDREA, GABRIELLI, ORAZIO, GALEAZZI, Tiziana, ZAMPINI, LUCIA, COPPA, Giovanni Valentino   +9 more
core   +1 more source

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque

International Journal of Dermatology, Volume 65, Issue 1, Page 15-17, January 2026.
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Marian Fernández Martínez, Frida Paola Rivera Lira, Rodrigo Roldán‐Marín, Sonia Toussaint‐Caire   +3 more
wiley   +1 more source

Gene therapies for mucopolysaccharidoses

, 2023
: Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT).
Alessandro Rossi, Nicola Brunetti‐Pierri, Brunetti-Pierri, Nicola, Rossi, Alessandro   +3 more
core   +1 more source

Amoxicillin‐Induced Drug‐Induced Liver Injury Superimposed on Acute Hepatitis C Infection in a Patient With Hurler Syndrome: A Diagnostic Challenge Assessed by the Updated RUCAM

Case Reports in Hepatology, Volume 2026, Issue 1, 2026.
Background Drug‐induced liver injury (DILI) refers to hepatotoxicity caused by conventional chemical drugs or xenobiotics, whereas herb‐induced liver injury (HILI) is attributed to herbal and dietary supplements. Both these conditions pose diagnostic challenges, particularly when concurrent etiologies such as acute viral hepatitis are present.
Archit Garg, Prosper Seshie, Abhishek Chouthai, Sahil Raval, Aadhithyaraman Santharaman, Adil Manzoor, Arkady Broder, Ned Snyder   +7 more
wiley   +1 more source

Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies

Frontiers in Public Health
IntroductionMucopolysaccharidoses (MPS) constitute a group of progressive and multisystemic inherited metabolic diseases that profoundly affect both the mental health of patients and the wellbeing of their families. This study aims to evaluate the impact
Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Tiago dos Santos Bara, Tiago dos Santos Bara, Vanessa Furlin, Vanessa Furlin, Mara Lúcia Schmitz Ferreira Santos, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source