Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease DOI Open Access

Tchelet Stern,

Yara Hussein, Diogo Cordeiro

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(15), С. 8447 - 8447

Опубликована: Авг. 2, 2024

Smith-Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well multiple organ anomalies in some affected individuals. The syndrome caused deletion the chromosome band around 17p11.2, including Retinoic Acid Induced 1 (

Язык: Английский

Histone lactylation-ROS loop contributes to light exposure-exacerbated neutrophil recruitment in zebrafish DOI Creative Commons

Cheng-zeng Qiu,

Ren Zhou, Hao-yi Zhang

и другие.

Communications Biology, Год журнала: 2024, Номер 7(1)

Опубликована: Июль 20, 2024

Abstract Light serves as a crucial external zeitgeber for maintaining and restoring physiological homeostasis in most organisms. Disrupting of light rhythms often leads to abnormal immune function, characterized by excessive inflammatory responses. However, the underlying regulatory mechanisms behind this phenomenon remain unclear. To address concern, we use vivo imaging establish inflammation models zebrafish, allowing us investigate effects disruption on neutrophil recruitment. Our findings reveal that under sustained conditions (LL), recruitment response caudal fin injury otic vesicle is significantly increased. This accompanied elevated levels histone (H3K18) lactylation reactive oxygen species (ROS) content. Through ChIP-sequencing ChIP‒qPCR analysis, discover H3K18 regulates transcriptional activation duox gene, leading ROS production. In turn, further promote lactylation, forming positive feedback loop. loop, driven lactylation-ROS, ultimately results over neutrophils sites LL conditions. Collectively, our study provides evidence mutual loop between ROS, exacerbating disorder conditions, emphasizing significance proper light-dark cycle optimize function.

Язык: Английский

Процитировано

4

Cognitive and affective disturbances in patients with Parkinson's disease: Perspectives for classifying of motor/neuropsychiatric subtypes DOI
Anastasiia D. Shkodina, К. А. Tarianyk, Dmytro I. Boiko

и другие.

Neuroscience Letters, Год журнала: 2022, Номер 781, С. 136675 - 136675

Опубликована: Май 6, 2022

Язык: Английский

Процитировано

18

Altered Motor Performance, Sleep EEG, and Parkinson’s Disease Pathology Induced by Chronic Sleep Deprivation in Lrrk2G2019S Mice DOI
Xinyao Liu, Hang Yu, Yuanyuan Wang

и другие.

Neuroscience Bulletin, Год журнала: 2022, Номер 38(10), С. 1170 - 1182

Опубликована: Май 25, 2022

Язык: Английский

Процитировано

18

The association between the fibrinogen-to-albumin ratio and delirium after deep brain stimulation surgery in Parkinson’s disease DOI Creative Commons
Wenbin Lu, Hui Wang, Sheng-Wei Lin

и другие.

Frontiers in Medicine, Год журнала: 2024, Номер 11

Опубликована: Апрель 19, 2024

Introduction Postoperative delirium (POD) remains one of the most prevalent neuropsychiatric complications after deep brain stimulation (DBS) surgery. The fibrinogen-to-albumin ratio (FAR) has been shown to significantly correlate with prognosis many diseases related inflammation. However, association between FAR and POD unclear. We aimed explore in patients Parkinson’s disease (PD) undergoing DBS Methods Patients PD who underwent surgery our hospital were included this retrospective study. was calculated from blood sample collected on admission. baseline assessed by binary logistic regression analysis, interaction stratified analyses. Results Of 226 patients, 37 (16.4%) suffered average age participants 63.3 ± 7.2 years, 51.3% male patients. Multivariate analysis indicated that highest tertile had a higher risk compared lowest (OR = 3.93, 95% CI: 1.24 ~ 12.67). Subgroup demonstrated preoperative Mini-Mental State Examination score ( p 0.013) an Conclusion Our data suggest associated admission is useful candidate biomarker identify are at high following

Язык: Английский

Процитировано

3

Circadian profile, daytime activity, and the Parkinson's phenotype: A motion sensor pilot study with neurobiological underpinnings DOI Creative Commons
Massimo Marano, Jessica Rosati,

Alessandro Magliozzi

и другие.

Neurobiology of Sleep and Circadian Rhythms, Год журнала: 2023, Номер 14, С. 100094 - 100094

Опубликована: Март 26, 2023

Circadian rhythm impairment may play a role in Parkinson's disease (PD) pathophysiology. Recent literature associated circadian features to the risk of developing Parkinson and its progression through stages. The association between chronotype phenotype should be verified on clinical biological point view. Herein we investigate sample 50 PD patients with Morningness Eveningness Questionnaire monitor their daily activity motion sensor embedded smartphone. Fibroblasts were collected from (n = 5) sex/age matched controls 3) tested for expression clock genes (CLOCK, BMAL1, PER1, CRY1), cell morphology, proliferation, death. Our results show an phenotype. most representative chronotypes "moderate morning" (56%), "intermediate" (24%) and, minor part, "definite (16%). They differed axial motor impairment, presence fluctuations quality life (p < 0.05). Patients visuospatial dysfunction higher PIGD score had blunted 0.006 p 0.001, respectively), independently by influence age other scores. obtained impaired BMAL1 cycle compared 3, 0.01). Moreover, flat profile was lowest proliferation largest morphology. This study contributes growing CR abnormalities pathophysiology providing link patient phenomenology.

Язык: Английский

Процитировано

9

Autophagy, a critical element in the aging male reproductive disorders and prostate cancer: a therapeutic point of view DOI Creative Commons
Pourya Raee, Shing Cheng Tan, Sajad Najafi

и другие.

Reproductive Biology and Endocrinology, Год журнала: 2023, Номер 21(1)

Опубликована: Сен. 26, 2023

Autophagy is a highly conserved, lysosome-dependent biological mechanism involved in the degradation and recycling of cellular components. There growing evidence that autophagy related to male reproductive biology, particularly spermatogenic endocrinologic processes closely associated with sexual health. In recent decades, problems such as decreasing sperm count, erectile dysfunction, infertility have worsened. addition, health overall comorbidity aging men. this review, we will outline role new player dysfunction prostate cancer. We first provide an overview mechanisms its regulating cells. then focus on link between aging-related diseases. This followed by discussion therapeutic strategies targeting before end limitations current studies suggestions for future developments field.

Язык: Английский

Процитировано

9

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management DOI Creative Commons
Wireko Andrew Awuah, Joecelyn Kirani Tan, Anastasiia D. Shkodina

и другие.

SAGE Open Medicine, Год журнала: 2023, Номер 12

Опубликована: Дек. 29, 2023

Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many of which have strong genetic ties. While ageing known contributor to these changes, certain can manifest early life, progressively affecting person’s quality life. one such condition appear individuals any age. In hereditary paraplegia, distinctive feature degeneration long nerve fibres corticospinal tract This linked various processes, including mitochondrial dysfunction, remodelling endoplasmic reticulum membrane, autophagy, abnormal myelination processes alterations lipid metabolism. Additionally, affects like endosome membrane trafficking, oxidative stress DNA polymorphisms. Disease-causing loci associated genes influence progression severity potentially functions. Although does not reduce lifespan, it significantly impairs their life as they age, particularly with more severe symptoms. Regrettably, there currently no treatments available halt or reverse pathological paraplegia. review aims explore mechanisms underlying pathophysiology emphasising interactions identified recent network studies. By comprehending associations, targeted molecular therapies address biochemical be developed enhance treatment strategies for guide clinical practice effectively.

Язык: Английский

Процитировано

9

Chronobiology of Parkinson's disease: Past, present and future DOI
Ziba Asadpoordezaki, Andrew N. Coogan, Beverley M. Henley

и другие.

European Journal of Neuroscience, Год журнала: 2022, Номер 57(1), С. 178 - 200

Опубликована: Ноя. 7, 2022

Parkinson's disease is a neurodegenerative disorder predominately affecting midbrain dopaminergic neurons that results in broad range of motor and non-motor symptoms. Sleep complaints are among the most common symptoms, even prodromal period. alterations patients may be associated with dysregulation circadian rhythms, intrinsic 24-h cycles control essential physiological functions, or side effects from levodopa medication physical mental health challenges. The impact on sleep disturbances not fully understood; as such, we review systems, cellular molecular mechanisms underlie perturbations disease. We also discuss potential benefits chronobiology-based personalized medicine management both terms behavioural pharmacological interventions. propose fuller understanding clock function shed important new light aetiology symptomatology allow for improvements quality life millions people

Язык: Английский

Процитировано

14

Sleep and armed conflict: future complications of war in Ukraine DOI Open Access
Anastasiia D. Shkodina, A. I. Zhyvotovska, Dmytro I. Boiko

и другие.

Revue Neurologique, Год журнала: 2022, Номер 178(9), С. 869 - 871

Опубликована: Ноя. 1, 2022

Язык: Английский

Процитировано

13

Clinical relevance of biomarkers, new therapeutic approaches, and role of post-translational modifications in the pathogenesis of Alzheimer’s disease DOI Creative Commons

Ibtisam Mumtaz,

Mir Owais Ayaz,

Mohamad Sultan Khan

и другие.

Frontiers in Aging Neuroscience, Год журнала: 2022, Номер 14

Опубликована: Сен. 7, 2022

Alzheimer’s disease (AD) is a neurodegenerative disorder that causes progressive loss of cognitive functions like thinking, memory, reasoning, behavioral abilities, and social skills thus affecting the ability person to perform normal daily independently. There no definitive cure for this disease, treatment options available management are not very effective as well. Based on histopathology, AD characterized by accumulation insoluble deposits amyloid beta (Aβ) plaques neurofibrillary tangles (NFTs). Although several molecular events contribute formation these deposits, aberrant post-translational modifications (PTMs) AD-related proteins (like APP, Aβ, tau, BACE1) also known be involved in onset progression disease. However, early diagnosis well development therapeutic approaches impeded lack proper clinical biomarkers. In review, we summarized current status relevance biomarkers from cerebrospinal fluid (CSF), blood extracellular vesicles AD. Moreover, highlight effects PTMs proteins, provide an insight how impact structure function leading pathology. Finally, disease-modifying therapeutics, novel approaches, targets discussed successful

Язык: Английский

Процитировано

12