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The Egyptian Heart Journal : (EHJ) :... Jun 2024Myeloproliferative disorders, including monoclonal gammopathy of undetermined significance (MGUS), are often associated with amyloid light-chain (AL)-type cardiac...
BACKGROUND
Myeloproliferative disorders, including monoclonal gammopathy of undetermined significance (MGUS), are often associated with amyloid light-chain (AL)-type cardiac amyloidosis (CA) but occasionally with wild-type transthyretin (ATTR) CA. In recent years, ATTR amyloidosis has attracted necessity for its reliable diagnosis with the addition of new treatments. Usually, both wild-type ATTR CA and AL-type CA present with marked cardiac hypertrophy, but renal dysfunction is milder in wild-type ATTR amyloidosis than in AL-type amyloidosis. Peripheral neurologic and autonomic symptoms such as numbness and dysesthesia are moderately present in AL-type amyloidosis, but less so in wild-type ATTR amyloidosis. Furthermore, the prognosis of ATTR-type amyloidosis is better than that of AL-type amyloidosis.
CASE PRESENTATION
A 72-year-old man with cardiac hypertrophy presented with New York Heart Association functional class III dyspnea and leg edema. He had no history of carpal tunnel syndrome. An electrocardiogram showed atrial fibrillation and low voltage. The N-terminal pro-B-type natriuretic peptide level was 3310 pg/mL, and troponin T was elevated to 0.073 ng/mL. However, the glomerular filtration rate was only slightly decreased at 69.0 mL/min/1.73 m. The serum free light-chain assay revealed a significant increase in the kappa chain, with positive results in Bence Jones proteins and serum immunoelectrophoresis. Bone marrow examination confirmed the diagnosis of monoclonal gammopathy of undetermined significance (MGUS). AL-type amyloidosis associated with a myeloproliferative disorder was suspected, and the prognosis was initially predicted to be poor, classified as Mayo stage IV. Contrary to this prognosis, the patient showed a slow progression of heart failure. Further imaging modalities and cardiac tissue findings confirmed the diagnosis as transthyretin type amyloidosis, and a favorable prognosis was established with the use of tafamidis.
CONCLUSIONS
MGUS occasionally coexists with wild-type ATTR CA. Scant autonomic symptoms, mild renal dysfunction, and slow progression of heart failure might be clues that the CA associated with the myeloproliferative disease is wild-type ATTR amyloidosis.
PubMed: 38856864
DOI: 10.1186/s43044-024-00499-x -
Cureus May 2024Introduction Epilepsy is a complex prevalent seizure disorder impacting a significant number of individuals worldwide. Those with epilepsy face the possibility of...
Introduction Epilepsy is a complex prevalent seizure disorder impacting a significant number of individuals worldwide. Those with epilepsy face the possibility of experiencing sudden unexpected death in epilepsy (SUDEP). When examining the relationship between epilepsy and SUDEP, cardiac-related deaths (CRD) may be considered a driving force. We hypothesize that patients with epilepsy are at higher risk of CRD than those without epilepsy. While utilizing the National Institutes of Health (NIH) All of Us Researcher Program (AoU) database, we also explored the relationship between epilepsy and cardiac-related deaths and propose potential connective mechanisms between the two conditions. Methods Baseline data from the National Institutes of Health All of Us Researcher Program was used to evaluate the relationship between cardiac-related deaths and epilepsy. A retrospective cohort study was conducted where individuals with epilepsy and without epilepsy were matched by inclusion and exclusion criteria including death, cardiac-related death, and epilepsy. Additionally, the prevalence of cardiac-related deaths was compared to neurological, respiratory, and hepatic-related deaths for patients with epilepsy to identify emerging causes of SUDEP. Results Among patients with a history of epilepsy, the prevalence of CRD was 45 (17.3%) compared to 305 (11%) in the control group. This difference was statistically significant by p<0.0042 with an odds ratio (OR)=1.698, 95%CI 1.214-2.379. Additionally, there was the highest number of significant cardiac-related deaths amongst patients with epilepsy compared to patients without epilepsy as opposed to different mechanisms of death such as acute respiratory failure, acute hepatic failure, and hypoxic brain injury. Conclusion This study indicates that epileptic patients have a statistically significant higher prevalence of cardiac-related deaths. Additionally, cardiac-related deaths constitute a significantly higher proportion of fatalities amongst patients with epilepsy compared to other causes of SUDEP. Potential mechanisms for these findings may include seizure-induced arrhythmias, hypoxia-induced cardiac arrest, autonomic dysregulation, and neurotransmitter disequilibrium. The results of our study suggest promising directions for future research in identifying predictors of cardiac-related deaths with proposed cardiac monitoring protocols as preventative strategies for epileptic patients in efforts to reduce the prevalence of SUDEP.
PubMed: 38854242
DOI: 10.7759/cureus.59921 -
BioRxiv : the Preprint Server For... Jun 2024Recent research emphasizes the intricate interplay of genetics and epigenetics in neurological disorders, notably Multiple Sclerosis (MS) and Guillain-Barre Syndrome...
Recent research emphasizes the intricate interplay of genetics and epigenetics in neurological disorders, notably Multiple Sclerosis (MS) and Guillain-Barre Syndrome (GBS), both of which exhibit cardiovascular dysregulation, with GBS often featuring serious bradyarrhythmias requiring prompt recognition and treatment. While cardiovascular autonomic dysfunction in MS is typically less severe, orthostatic intolerance affects around half of MS patients. Their distinction lies in their autoimmune responses, MS is an autoimmune disease affecting the central nervous system, causes demyelination and axon damage, leading to cognitive, ocular, and musculoskeletal dysfunction. In contrast, GBS primarily affects the peripheral nervous system, resulting in paralysis and respiratory complications. Despite their differences, both diseases share environmental risk factors such as viral infections and Vitamin D deficiency. This study aims to explore shared gene expression pathways, functional annotations, and molecular pathways between MS and GBS to enhance diagnostics, pathogenesis understanding, and treatment strategies through molecular analysis techniques. Through the gene expression analysis, five significant genes were found UTS2, TNFSF10, GBP1, VCAN, FOS. Results shows that Common DEGs are linked to apoptosis, bacterial infections, and atherosclerosis. Molecular docking analysis suggests Aflatoxin B1 as a potential therapeutic compound due to its high binding affinity with common differentially expressed proteins.
PubMed: 38853933
DOI: 10.1101/2024.05.29.595759 -
Alzheimer's Research & Therapy Jun 2024Higher order regulation of autonomic function is maintained by the coordinated activity of specific cortical and subcortical brain regions, collectively referred to as...
BACKGROUND
Higher order regulation of autonomic function is maintained by the coordinated activity of specific cortical and subcortical brain regions, collectively referred to as the central autonomic network (CAN). Autonomic changes are frequently observed in Alzheimer's disease (AD) and dementia, but no studies to date have investigated whether plasma AD biomarkers are associated with CAN functional connectivity changes in at risk older adults.
METHODS
Independently living older adults (N = 122) without major neurological or psychiatric disorder were recruited from the community. Participants underwent resting-state brain fMRI and a CAN network derived from a voxel-based meta-analysis was applied for overall, sympathetic, and parasympathetic CAN connectivity using the CONN Functional Toolbox. Sensorimotor network connectivity was studied as a negative control. Plasma levels of amyloid (Aβ, Aβ), neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) were assessed using digital immunoassay. The relationship between plasma AD biomarkers and within-network functional connectivity was studied using multiple linear regression adjusted for demographic covariates and Apolipoprotein E (APOE) genotype. Interactive effects with APOE4 carrier status were also assessed.
RESULTS
All autonomic networks were positively associated with Aβ ratio and remained so after adjustment for age, sex, and APOE4 carrier status. Overall and parasympathetic networks were negatively associated with GFAP. The relationship between the parasympathetic CAN and GFAP was moderated by APOE4 carrier status, wherein APOE4 carriers with low parasympathetic CAN connectivity displayed the highest plasma GFAP concentrations (B = 910.00, P = .004). Sensorimotor connectivity was not associated with any plasma AD biomarkers, as expected.
CONCLUSION
The present study findings suggest that CAN function is associated with plasma AD biomarker levels. Specifically, lower CAN functional connectivity is associated with decreased plasma Aβ, indicative of cerebral amyloidosis, and increased plasma GFAP in APOE4 carriers at risk for AD. These findings could suggest higher order autonomic and parasympathetic dysfunction in very early-stage AD, which may have clinical implications.
Topics: Humans; Female; Alzheimer Disease; Aged; Male; Biomarkers; Amyloid beta-Peptides; Magnetic Resonance Imaging; Brain; Peptide Fragments; Autonomic Nervous System; Glial Fibrillary Acidic Protein; Aged, 80 and over; Neurofilament Proteins; Autonomic Nervous System Diseases
PubMed: 38851772
DOI: 10.1186/s13195-024-01486-9 -
Frontiers in Neuroscience 2024Vagus nerve stimulation (VNS) improves diseases such as refractory epilepsy and treatment-resistant depression, likely by rebalancing the autonomic nervous system (ANS)....
BACKGROUND
Vagus nerve stimulation (VNS) improves diseases such as refractory epilepsy and treatment-resistant depression, likely by rebalancing the autonomic nervous system (ANS). Intradermal auricular electro-acupuncture stimulation (iaES) produces similar effects. The aim of this study was to determine the effects of different iaES frequencies on the parasympathetic and sympathetic divisions in different states of ANS imbalance.
METHODS
We measured heart rate variability (HRV) and heart rate (HR) of non-modeled (normal) rats with the treatment of various frequencies to determine the optimal iaES frequency. The optimized iaES frequency was then applied to ANS imbalance model rats to elucidate its effects.
RESULTS
30 Hz and 100 Hz iaES clearly affected HRV and HR in normal rats. 30 Hz iaES increased HRV, and decreased HR. 100 Hz iaES decreased HRV, and increased HR. In sympathetic excited state rats, 30 Hz iaES increased HRV. 100 Hz iaES increased HRV, and decreased HR. In parasympathetic excited state rats, 30 Hz and 100 Hz iaES decreased HRV. In sympathetic inhibited state rats, 30 Hz iaES decreased HRV, while 100 Hz iaES decreased HR. In parasympathetic inhibited rats, 30 Hz iaES decreased HR and 100 Hz iaES increased HRV.
CONCLUSION
30 Hz and 100 Hz iaES contribute to ANS rebalance by increasing vagal and sympathetic activity with different amplifications. The 30 Hz iaES exhibited positive effects in all the imbalanced states. 100 Hz iaES suppressed the sympathetic arm in sympathetic excitation and sympathetic/parasympathetic inhibition and suppressed the vagal arm and promoted the sympathetic arm in parasympathetic excitation and normal states.
PubMed: 38846714
DOI: 10.3389/fnins.2024.1367266 -
Neurologia I Neurochirurgia Polska 2024
Topics: Humans; Flushing; Hypohidrosis; Autonomic Nervous System Diseases; Thermography; Male; Adult; Female
PubMed: 38845593
DOI: 10.5603/pjnns.100534 -
Neurological Research and Practice Jun 2024The aim of this German national guideline is to optimize the clinical care of patients with Parkinson's disease (PD) in terms of diagnostics, drug and surgical treatment...
INTRODUCTION
The aim of this German national guideline is to optimize the clinical care of patients with Parkinson's disease (PD) in terms of diagnostics, drug and surgical treatment and care. This guidance was prepared for the German Society of Neurology (DGN) in collaboration with the Austrian Society of Neurology (ÖGN) and the Swiss Neurological Society (SNG) for German-speaking countries. The guidelines for the diagnosis and treatment of PD have been revised by a national expert group and the guideline commission of the DGN at S2k level. The main objective of these guidelines is to optimize the clinical care of PD patients regarding diagnosis, including early detection, technical diagnostic examinations, and pharmacological as well as invasive treatment options.
RECOMMENDATIONS
The updated PD diagnosis and treatment guidelines are emphasizing optimized clinical care. Key revisions include preferring the name "Parkinson's disease" over previous terms and adopting International Parkinson and Movement Disorder Society (MDS) diagnostic criteria. Recommendations cover genetic and imaging diagnostics, initial pharmacotherapy considering efficacy and patient factors, and tailored pharmacological combinations for complications. Guidelines extend to managing cognitive, affective, psychotic, and autonomic symptoms, along with non-oral therapies like pump therapy and deep brain stimulation. Special situations like akinetic crisis, driving ability, and care concepts are addressed, ensuring comprehensive management for PD patients at various stages and conditions.
CONCLUSIONS
This guidance reflects the state of the art at the beginning of 2024.
PubMed: 38845028
DOI: 10.1186/s42466-024-00325-4 -
BMJ Open Jun 2024This planned scoping review aims to provide insight into current literature regarding perceived quality of life (QoL), functioning and participation of patients with...
Quality of life, functioning and participation of adult patients with an amputation following complex regional pain syndrome I or brachial plexus injury: a scoping review protocol.
INTRODUCTION
This planned scoping review aims to provide insight into current literature regarding perceived quality of life (QoL), functioning and participation of patients with upper limb amputations (ULA) because of therapy-resistant debilitating complex regional pain syndrome type I (CRPS-I) or brachial plexus injury (BPI). It is important to gain insight into these outcomes, so we can properly inform and select patients eligible for amputation.
METHODS AND ANALYSIS
Joanna Briggs Institute methodology for scoping reviews, Systematic Reviews and Meta-Analyses Scoping Reviews guidelines and Arksey and O'Malley's framework will be used. Studies regarding adult patients with either BPI or CRPS-I who underwent ULA will be considered for inclusion. Studies should include one or more of the following topics: QoL, functioning or participation and should be written in English, German or Dutch. Searches will be conducted in the Cochrane database, PubMed, EMBASE and Google Scholar. Search strings will be provided by a licenced librarian. All relevant literatures will be considered for inclusion, regardless of published date, in order to give a full scope of available literature. Studies will be selected first by title, then abstract and finally by full article by two reviewers who will discuss after every round. A third reviewer will make final decisions to reach consensus if needed. Data will be presented as brief summaries and in tables using a modified data extraction table.
ETHICS AND DISSEMINATION
No ethical approval is required since no original data will be collected. Results will be disseminated through publication in a peer-reviewed journal and presentations at (inter)national conferences.
Topics: Humans; Quality of Life; Amputation, Surgical; Brachial Plexus; Adult; Research Design; Reflex Sympathetic Dystrophy; Upper Extremity
PubMed: 38839383
DOI: 10.1136/bmjopen-2023-079393 -
Neurobiology of Disease Aug 2024Multiple system atrophy (MSA) is characterized by glial cytoplasmic inclusions (GCIs) containing aggregated α-synuclein (α-syn) in oligodendrocytes. The origin of...
Multiple system atrophy (MSA) is characterized by glial cytoplasmic inclusions (GCIs) containing aggregated α-synuclein (α-syn) in oligodendrocytes. The origin of α-syn accumulation in GCIs is unclear, in particular whether abnormal α-syn aggregates result from the abnormal elevation of endogenous α-syn expression in MSA or ingested from the neuronal source. Tubulin polymerization promoting protein (TPPP) has been reported to play a crucial role in developing GCI pathology. Here, the total cell body, nucleus, and cytoplasmic area density of SNCA and TPPP transcripts in neurons and oligodendrocytes with and without various α-syn pathologies in the pontine base in autopsy cases of MSA (n = 4) and controls (n = 2) were evaluated using RNAscope with immunofluorescence. Single-nucleus RNA-sequencing data for TPPP was evaluated using control frontal cortex (n = 3). SNCA and TPPP transcripts were present in the nucleus and cytoplasm of oligodendrocytes in both controls and diseased, with higher area density in GCIs and glial nuclear inclusions in MSA. Area densities of SNCA and TPPP transcripts were lower in neurons showing cytoplasmic inclusions in MSA. Indeed, TPPP transcripts were unexpectedly found in neurons, while the anti-TPPP antibody failed to detect immunoreactivity. Single-nucleus RNA-sequencing revealed significant TPPP transcript expression predominantly in oligodendrocytes, but also in excitatory and inhibitory neurons. This study addressed the unclear origin of accumulated α-syn in GCIs, proposing that the elevation of SNCA transcripts may supply templates for misfolded α-syn. In addition, the parallel behavior of TPPP and SNCA transcripts in GCI development highlights their potential synergistic contribution to inclusion formation. In conclusion, this study advances our understanding of MSA pathogenesis, offers insights into the dynamics of SNCA and TPPP transcripts in inclusion formation, and proposes regulating their transcripts for future molecular therapy to MSA.
Topics: alpha-Synuclein; Multiple System Atrophy; Humans; Oligodendroglia; Inclusion Bodies; Aged; Female; Male; Middle Aged; Nerve Tissue Proteins; Neurons; Aged, 80 and over
PubMed: 38839023
DOI: 10.1016/j.nbd.2024.106551 -
Advances in Mind-body MedicineParkinson's disease (PD) is a progressive neurodegenerative disorder of the central nervous system. Non-motor symptoms (NMSs) such as anxiety, depression, sleep... (Review)
Review
BACKGROUND
Parkinson's disease (PD) is a progressive neurodegenerative disorder of the central nervous system. Non-motor symptoms (NMSs) such as anxiety, depression, sleep disorders, autonomic dysregulation, and sensory impairments are as debilitating as motor symptoms and negatively impact an individual's quality of life. While the majority appear in the prodromal stage, a few NMSs, like anxiety and hallucinations can also occur as a side effect of dopaminergic drugs. Physical activity-based recreation has emerged as a newer non-pharmacological approach to managing NMS in PD. However, there is a paucity of literature proving its efficacy in reducing NMS burden.
PRIMARY OBJECTIVE
The objective of the present review is to summarise evidence on the efficacy of physical activity-based recreation to manage NMSs in PD.
METHODS
A literature search was conducted in PubMed, CINAHL, and Cochrane Library databases. Fifty studies including randomized controlled trials, systematic reviews, and cohort studies published between 2012-2022 were reviewed thoroughly as per Preferred Reporting Items for Systematic Reviews and Meta-Analysis-Scoping Review (PRISMA-ScR) guidelines.
SETTING
India.
PARTICIPANTS
Individuals with PD.
RESULTS
Three out of eight studies, one fair quality (level IIa) and two high-quality studies (level Ib and Ia respectively) observed the effects of dance on NMS, two high-quality studies (level Ib) examined the effects of Tai-chi, two high-quality studies (level Ia and Ib respectively) examined the effect of Qigong while the remaining one high-quality study (level Ia) assessed the effects of Yoga.
CONCLUSION
Review findings indicate that yoga and Tai-chi followed by Qigong and dance are effective therapeutic adjuncts to regular physiotherapy interventions in alleviating NMSs in individuals with PD.
Topics: Humans; Parkinson Disease; Sleep Wake Disorders; Recreation
PubMed: 38837780
DOI: No ID Found