HSP90 Family Members, Their Regulators and Ischemic Stroke Risk: A Comprehensive Molecular-Genetics and Bioinformatics Analysis DOI Creative Commons
Ksenia Kobzeva, M. P. Ivenkov, Rostislav E. Gromov

et al.

Frontiers in Bioscience-Scholar, Journal Year: 2024, Volume and Issue: 16(4)

Published: Dec. 11, 2024

Background: Disruptions in proteostasis are recognized as key drivers cerebro- and cardiovascular disease progression. Heat shock proteins (HSPs), essential for maintaining protein stability cellular homeostasis, pivotal neuroperotection. Consequently, deepening the understanding role of HSPs ischemic stroke (IS) risk is crucial identifying novel therapeutic targets advancing neuroprotective strategies. Aim: Our objective was to examine potential correlation between single nucleotide polymorphisms (SNPs) genes that encode members 90 (HSP90), small heat (HSPB), factors (HSF) families, clinical characteristics IS. Methods: 953 IS patients 1265 controls from Central Russia were genotyped nine SNPs encoding HSP90AA1, HSFs, HSPBs using MassArray-4 system probe-based polymerase chain reaction (PCR). Results: In smokers, SNP rs1133026 HSPB8 increased (risk allele A, odds ratio (OR) = 1.43, 95% Confidence Interval (CI) 1.02–2.02, p 0.035), rs556439 HSF2 brain infarct size 0.02). non-smokers, rs4279640 HSF1 (protective T, OR 0.58, CI 0.37–0.92, 0.02) rs4264324 HSP90AA1 C, 0.11, 0.01–0.78, 0.001) lowered recurrent stroke; rs7303637 age onset 0.04). with body mass index (BMI) ≥25, 1.33, 1.04–1.69, rs549302 G, 1.34, 1.02–1.75, 0.03) linked a higher Conclusions: The primary molecular mechanisms through which studied contribute pathogenesis found be regulation cell death, inflammatory oxidative stress responses.

Language: Английский

Osteosarcoma in an Adolescent With Germline DYNC1H1‐Related Disorder: A Novel Association With Whole Genome and Transcriptome Tumour Analysis DOI Open Access
Cameron J. Grisdale,

Rachel V. Silverberg,

Bilal Marwa

et al.

Pediatric Blood & Cancer, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 14, 2025

The data that support the findings of this study are available from corresponding author upon reasonable request.

Language: Английский

Citations

0
Multidisciplinary and home-based management in neonatal unilateral foot drop: a case report DOI Creative Commons

Ilaria Sanzarello,

Luca Siracusano,

Angelo Alito

et al.

Frontiers in Rehabilitation Sciences, Journal Year: 2025, Volume and Issue: 6

Published: May 20, 2025

Background Foot drop in newborns is a rare condition with limited cases reported the literature. It can result from various aetiologies including neurological, muscular, anatomical, or mechanical factors. Diagnosis be challenging as identifying underlying cause essential for determining appropriate course of management. Case presentation We present case newborn unilateral foot highlighting diagnostic approach and clinical progression. Clinical evaluation instrumental examinations, electromyography nerve conduction studies, showed isolated external popliteal sciatic dysfunction. There were no associated spinal cord musculoskeletal abnormalities. A prolonged complicated delivery, sustained intrauterine limb malposition compression, was identified likely cause, leading to transient ischemia peripheral impairment. Despite initial weakness inability dorsiflex foot, surgical pharmacological intervention required. Supportive care close monitoring adopted besides active involvement parents positioning mobilization. Over following months, gradual neurological recovery observed, culminating complete resolution symptoms by fifth month life. Conclusion This underscores importance recognizing peroneal palsy potential neonatal drop. also highlights role conservative management expectant observation where spontaneous likely, avoiding unnecessary interventions.

Language: Английский

Citations

0
HSP90 Family Members, Their Regulators and Ischemic Stroke Risk: A Comprehensive Molecular-Genetics and Bioinformatics Analysis DOI Creative Commons
Ksenia Kobzeva, M. P. Ivenkov, Rostislav E. Gromov

et al.

Frontiers in Bioscience-Scholar, Journal Year: 2024, Volume and Issue: 16(4)

Published: Dec. 11, 2024

Background: Disruptions in proteostasis are recognized as key drivers cerebro- and cardiovascular disease progression. Heat shock proteins (HSPs), essential for maintaining protein stability cellular homeostasis, pivotal neuroperotection. Consequently, deepening the understanding role of HSPs ischemic stroke (IS) risk is crucial identifying novel therapeutic targets advancing neuroprotective strategies. Aim: Our objective was to examine potential correlation between single nucleotide polymorphisms (SNPs) genes that encode members 90 (HSP90), small heat (HSPB), factors (HSF) families, clinical characteristics IS. Methods: 953 IS patients 1265 controls from Central Russia were genotyped nine SNPs encoding HSP90AA1, HSFs, HSPBs using MassArray-4 system probe-based polymerase chain reaction (PCR). Results: In smokers, SNP rs1133026 HSPB8 increased (risk allele A, odds ratio (OR) = 1.43, 95% Confidence Interval (CI) 1.02–2.02, p 0.035), rs556439 HSF2 brain infarct size 0.02). non-smokers, rs4279640 HSF1 (protective T, OR 0.58, CI 0.37–0.92, 0.02) rs4264324 HSP90AA1 C, 0.11, 0.01–0.78, 0.001) lowered recurrent stroke; rs7303637 age onset 0.04). with body mass index (BMI) ≥25, 1.33, 1.04–1.69, rs549302 G, 1.34, 1.02–1.75, 0.03) linked a higher Conclusions: The primary molecular mechanisms through which studied contribute pathogenesis found be regulation cell death, inflammatory oxidative stress responses.

Language: Английский

Citations

1