Explanipedia

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy Open

Afitz Da Silva, Samuel Boris Tene Tadoum, Irena Muffels, Rohit Budhraja, Luisa Sturiale , et al. · 2025

Developmental delay and seizures with or without movement abnormalities (OMIM 617836) caused by heterozygous pathogenic variants in the DHDDS gene (DHDDS-CDG) is a rare genetic disease that belongs to the progressive encephalopathy spectru…

Evaluation of renal masses with <span>CEST MRI</span>: Protocol optimization and preliminary results Open

Xiaojing Wang, Jochen Keupp, Ivan Dimitrov, Ananth J. Madhuranthakam, Durga Udayakumar , et al. · 2025

Purpose This study investigates the application of CEST MRI in human kidneys, with the overarching goal of developing CEST MRI for renal mass characterization. Here, the focus is on the development of a protocol and the proof‐of‐principle …

Non-invasive PNET grading using CT radiomics and machine learning Open

Faeze Salahshour, Mahsa Taherzadeh, Ghasem Hajianfar, Gholamreza Bayat, Farid Azmoudeh Ardalan , et al. · 2025

Pancreatic cancer is a major cause of cancer-related fatalities globally, with a poor prognosis. Machine learning-based medical image analysis has emerged as a promising approach for improving clinical decision-making. The purpose is to de…

Analysis of the BraTS 2023 Intracranial Meningioma Segmentation Challenge Open

Dominic LaBella, Ujjwal Baid, Omaditya Khanna, Shan McBurney-Lin, Ryan McLean , et al. · 2024

We describe the design and results from the BraTS 2023 Intracranial Meningioma Segmentation Challenge. The BraTS Meningioma Challenge differed from prior BraTS Glioma challenges in that it focused on meningiomas, which are typically benign…

A multi-institutional meningioma MRI dataset for automated multi-sequence image segmentation Open

Dominic LaBella, Omaditya Khanna, Shan McBurney-Lin, Ryan McLean, Pierre Nedelec , et al. · 2024

Meningiomas are the most common primary intracranial tumors and can be associated with significant morbidity and mortality. Radiologists, neurosurgeons, neuro-oncologists, and radiation oncologists rely on brain MRI for diagnosis, treatmen…

Non-Invasive PNETs Grading Using CT Radiomics and Machine Learning Open

Faeze Salahshour, Mahsa Taherzadeh, Ghasem Hajanfar, Gholamreza Bayat, Farid Azmoudeh Ardalan , et al. · 2024

Purpose The purpose is to determine the most effective machine learning method for identifying pathological grades of pancreatic neuroendocrine tumors (PNETs). This will be achieved by analyzing contrast-enhanced computed tomography scans …

Severe central nervous system demyelination in Sanfilippo disease Open

Mahsa Taherzadeh, Erjun Zhang, Irene Londoño, Benjamin De Leener, Sophie Wang , et al. · 2023

Introduction Chronic progressive neuroinflammation is a hallmark of neurological lysosomal storage diseases, including mucopolysaccharidosis III (MPS III or Sanfilippo disease). Since neuroinflammation is linked to white matter tract patho…

Presentation of portomesenteric thrombosis after one-anastomosis gastric bypass: Case report Open

Delaram Moosavi, Mahsa Taherzadeh, Somayeh Mokhber, Sajedeh Riazi, Abdolreza Pazouki · 2023

The effect of mutation on neurotoxicity reduction of new chimeric reteplase, a computational study Open

Pardis Mohammadi pour, Karim Mahnam, Mahsa Taherzadeh, Shahrzad Ahangarzadeh, Abbas Alibakhshi , et al. · 2023

Background and purpose: Excitotoxicity in nerve cells is a type of neurotoxicity in which excessive stimulation of receptors (such as N-methyl-d-aspartate glutamate receptors (NMDAR)) leads to the influx of high-level calcium ions into cel…

Severe Central Nervous System Demyelination in Sanfilippo Disease Open

Mahsa Taherzadeh, Erjun Zhang, Irene Londoño, Sheng‐Kwei Song, Sophie Wang , et al. · 2023

Neurodegeneration and chronic progressive neuroinflammation are well-documented in neurological lysosomal storage diseases, including Sanfilippo disease or mucopolysaccharidosis III (MPS III). Since chronic neuroinflammation has been linke…

The value of bronchocele attenuation in pulmonary computed tomography in assessment of allergic bronchopulmonary aspergillosis in the background of cystic fibrosis: A cross-sectional study Open

Mahsa Taherzadeh, Fatemeh Zamani, Neda Pak, Mohammadreza Modaresi · 2022

The presence of bronchocele and an increase in its attenuation on CT scan will be diagnostic for the occurrence of ABPA.

Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT Open

Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon‐Roberts, Annie L. A. Nguyen , et al. · 2022

The majority of mucopolysaccharidosis IIIC (MPS IIIC) patients have missense variants causing misfolding of heparan sulfate acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT), which are potentially treatable with pharmacological chape…

Intestinal malrotation Open

Mahsa Taherzadeh · 2021

Oral Glucosamine Ameliorates Aggravated Neurological Phenotype in Mucopolysaccharidosis III Type C Mouse Model Expressing Misfolded HGSNAT Variant Open

Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon‐Roberts, Annie L. A. Nguyen , et al. · 2021

Objective Over 55% of mucopolysaccharidosis IIIC (MPS IIIC) patients have at least one allelic missense variant responsible for misfolding of heparan sulfate acetyl-CoA: α -glucosaminide N- acetyltransferase (HGSNAT). These variants are po…

Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission Open

Camila Pará, Poulomee Bose, Luigi Bruno, Erika Freemantle, Mahsa Taherzadeh , et al. · 2021

The majority of patients affected with lysosomal storage disorders (LSD) exhibit neurological symptoms. For mucopolysaccharidosis type IIIC (MPSIIIC), the major burdens are progressive and severe neuropsychiatric problems and dementia, pri…

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