Exploring Overlap Syndromes: An Atypical Case of Multiple Sclerosis With Anti-Sjogren’s Syndrome Type B Antibody DOI
Rebecca L Shakour,

Oriana Tascione,

Nathan Carberry

et al.

Journal of Medical Cases, Journal Year: 2024, Volume and Issue: 15(12), P. 387 - 395

Published: Nov. 11, 2024

Evaluating patients with symptoms suggestive of demyelinating disease such as multiple sclerosis (MS) is common in both the inpatient and outpatient setting but may be difficult if atypical neurological are present. In this case, a 39-year-old female presented new onset weakness paresthesias. The patient reported 3 weeks progressively worsening left face hemibody numbness, along gait abnormality. She was found to have absent lower extremity reflexes, unexpected imaging findings, positive anti-Sjogren's syndrome type B (SSB) antibody despite lacking typical sicca associated Sjogren's (SS). This case report underscores diagnostic complexity overlapping MS SS, highlighting need for comprehensive differential diagnosis when It also emphasizes importance considering autoimmune overlap syndromes cases, co-occurrence these conditions can significantly impact treatment strategies, requiring multidisciplinary approach optimal care.

Language: Английский

Deletion of endothelial IGFBP5 protects against ischaemic hindlimb injury by promoting angiogenesis DOI Creative Commons
Fei Song, Yu Hu,

Yi‐Xiang Hong

et al.

Clinical and Translational Medicine, Journal Year: 2024, Volume and Issue: 14(6)

Published: June 1, 2024

Abstract Background Angiogenesis is critical for forming new blood vessels from antedating vascular vessels. The endothelium essential angiogenesis, remodelling and minimisation of functional deficits following ischaemia. insulin‐like growth factor (IGF) family crucial angiogenesis. Insulin‐like factor‐binding protein 5 (IGFBP5), a binding the IGF family, may have places in but mechanisms are not yet completely understood. We sought to probe whether IGFBP5 involved pathological angiogenesis uncover molecular behind it. Methods results expression was elevated gastrocnemius muscle limb ischaemia patients hindlimb ischaemic (HLI) mice hypoxic human umbilical vein endothelial cells (HUVECs). In vivo, loss (IGFBP5 EKO ) facilitated recovery vessel function necrosis HLI mice. Moreover, skin damage healing aortic ring sprouting were faster than control vitro, genetic inhibition HUVECs significantly promoted tube formation, cell proliferation migration by mediating phosphorylation IGF1R, Erk1/2 Akt. Intriguingly, pharmacological treatment with recombinant ensued contrasting effect on inhibiting IGF1 or IGF2 function. Genetic cellular oxygen consumption extracellular acidification rates via IGF1R‐mediated glycolytic adenosine triphosphate (ATP) metabolism. Mechanistically, exerted its role E3 ubiquitin ligase Von Hippel‐Lindau (VHL)‐regulated HIF1α stability. Furthermore, knockdown IGF1R partially abolished reformative post‐HLI. Conclusion Our findings demonstrate that ablation enhances promoting ATP metabolism stabilising HIF1α, implying novel therapeutic target treating abnormal angiogenesis‐related conditions.

Language: Английский

Citations

4
Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases DOI Creative Commons
Dariusz Walkowiak, Jan Domaradzki

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Feb. 21, 2025

Language: Английский

Citations

0
Molecular and cellular processes underlying Unverricht-Lundborg disease—prospects for early interventions and a cure DOI Creative Commons
Eva Žerovnik

Exploration of neuroscience, Journal Year: 2024, Volume and Issue: 3(4), P. 295 - 308

Published: July 18, 2024

A short overview of the main features progressive myoclonus epilepsies (PMEs), such as Lafora disease (LD), neuronal ceroid lipofuscinoses (NCLs), and epilepsy with ragged-red fibers (MERRF) is given. The stress this review paper put on one PME’s, Unverricht-Lundborg (ULD)—EPM1, which caused by mutations in human cystatin B gene (stefin an alternative protein’s name). However, different other genes/proteins were found mutated patients presenting EPM1-like symptoms. By understanding their function pathophysiological roles, further insights into underlying processes EPM1 can be obtained. On a broader scale, common mechanisms exist between ULD, LD NCLs, as, reactive glia, synaptic remodeling, hyperexcitability, impairements lysosomal/endocytosis system, cytoskeletal functions, mitochondria. Oxidative also common. molecular cellular processes, early interventions, better therapies eventually, using modern stem cell, editing or replacement methods, cure expected.

Language: Английский

Citations

2
Multimodal single-cell profiling reveals neuronal vulnerability and pathological cell states in focal cortical dysplasia DOI Creative Commons

Isabella C. Galvão,

Manuela Lemoine,

Lauana A. Messias

et al.

iScience, Journal Year: 2024, Volume and Issue: 27(12), P. 111337 - 111337

Published: Nov. 6, 2024

Focal cortical dysplasia (FCD) is a neurodevelopmental condition characterized by malformations of the cerebral cortex that often cause drug-resistant epilepsy. In this study, we performed multi-omics single-nuclei profiling to map chromatin accessibility and transcriptome landscapes FCD type II, generating comprehensive multimodal dataset comprising 61,525 cells from 11 clinical samples lesions controls. Our findings revealed profound chromatin, transcriptomic, cellular alterations affecting neuronal glial in lesions, including selective loss upper-layer excitatory neurons, significant expansion oligodendrocytes immature astrocytic populations, distinct subpopulation harboring dysmorphic neurons. Furthermore, uncovered activated microglia subsets, particularly IIb cases. This study unveils cell states driving development epileptogenicity, enhancing our understanding offering directions for targeted therapy development.

Language: Английский

Citations

2
Multimodal single-cell sequencing of the human cortex reveals neuronal vulnerability and activated glial cell states in focal cortical dysplasia DOI Creative Commons

Isabella C. Galvão,

Manuela Lemoine,

Lauana A. Messias

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: May 29, 2024

ABSTRACT Focal Cortical Dysplasia (FCD) is a neurodevelopmental condition characterized by malformations of the cerebral cortex that often cause drug-resistant epilepsy. In this study, we performed multi-omics single-cell profiling to map chromatin accessibility and transcriptome landscapes FCD type II, generating comprehensive multimodal dataset comprising 61,525 cells from 11 clinical samples lesions controls. Our findings revealed profound chromatin, transcriptomic, cellular alterations affecting neuronal glial in lesions, including selective loss upper-layer excitatory neurons, significant expansion oligodendrocytes immature astrocytic populations, unique subpopulation harboring dysmorphic neurons. Furthermore, uncovered activated microglia subsets, particularly IIb cases. This study unveils cell states driving development epileptogenicity, enhancing our understanding offering new directions for targeted therapy development.

Language: Английский

Citations

0
Exploring Overlap Syndromes: An Atypical Case of Multiple Sclerosis With Anti-Sjogren’s Syndrome Type B Antibody DOI
Rebecca L Shakour,

Oriana Tascione,

Nathan Carberry

et al.

Journal of Medical Cases, Journal Year: 2024, Volume and Issue: 15(12), P. 387 - 395

Published: Nov. 11, 2024

Evaluating patients with symptoms suggestive of demyelinating disease such as multiple sclerosis (MS) is common in both the inpatient and outpatient setting but may be difficult if atypical neurological are present. In this case, a 39-year-old female presented new onset weakness paresthesias. The patient reported 3 weeks progressively worsening left face hemibody numbness, along gait abnormality. She was found to have absent lower extremity reflexes, unexpected imaging findings, positive anti-Sjogren's syndrome type B (SSB) antibody despite lacking typical sicca associated Sjogren's (SS). This case report underscores diagnostic complexity overlapping MS SS, highlighting need for comprehensive differential diagnosis when It also emphasizes importance considering autoimmune overlap syndromes cases, co-occurrence these conditions can significantly impact treatment strategies, requiring multidisciplinary approach optimal care.

Language: Английский

Citations

0