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1.
Cureus ; 16(3): e56982, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38665758

RESUMO

The Golgi apparatus is an organelle responsible for protein processing, sorting, and transport in cells. Recent research has shed light on its possible role in the pathogenesis of various bone diseases. This review seeks to explore its significance in osteoporosis, osteogenesis imperfecta, and other bone conditions such as dysplasias. Numerous lines of evidence demonstrate that perturbations to Golgi apparatus function can disrupt post-translational protein modification, folding and trafficking functions crucial for bone formation, mineralization, and remodeling. Abnormalities related to glycosylation, protein sorting, or vesicular transport in Golgi have been associated with altered osteoblast and osteoclast function, compromised extracellular matrix composition, as well as disrupted signaling pathways involved with homeostasis of bones. Mutations or dysregulation of Golgi-associated proteins, including golgins and coat protein complex I and coat protein complex II coat components, have also been implicated in bone diseases. Such genetic alterations may disrupt Golgi structure, membrane dynamics, and protein transport, leading to bone phenotype abnormalities. Understanding the links between Golgi apparatus dysfunction and bone diseases could provide novel insights into disease pathogenesis and potential therapeutic targets. Future research should focus on unraveling specific molecular mechanisms underlying Golgi dysfunction associated with bone diseases to develop targeted interventions for restoring normal bone homeostasis while decreasing clinical manifestations associated with these issues.

2.
Cureus ; 16(3): e56933, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38665760

RESUMO

This comprehensive study analyzes 346 surgically treated intracranial aneurysms, emphasizing the importance of understanding risk factors and prevalent characteristics in patients. Intracranial aneurysms, primarily of the saccular or berry type, significantly contribute to nontraumatic subarachnoid hemorrhages and demonstrate a rising incidence due to advances in imaging techniques. The study highlights a gender discrepancy in aneurysm occurrence and a higher prevalence in individuals over 30 years old. The research delves into various aspects, including aneurysm localization, diameter, neck dimensions, and rupture status, with a focus on the anterior communicating artery and middle communicating artery as predominant locations. Significant findings include the prevalence of ruptured aneurysms and the impact of arterial hypertension, atherosclerosis, obesity, and diabetes on aneurysm epidemiology. The study also investigates the occurrence of vasospasm, a significant factor in delayed morbidity and mortality in aneurysmal subarachnoid hemorrhage. The utilization of the Glasgow Outcome Scale and other quantification scales aids in understanding the severity and postoperative outcomes of intracranial aneurysms. Challenges such as the incidence of reopenings and postoperative osteomyelitis are addressed, underlining the need for refined protocols and multidisciplinary approaches in treatment. The study's results contribute to the existing knowledge base on intracranial aneurysms, emphasizing the importance of ongoing research and tailored treatment strategies. The comprehensive nature of this analysis, covering preoperative, intraoperative, and postoperative factors, provides valuable insights into the complex interplay of risk factors and clinical outcomes in patients with intracranial aneurysms.

3.
Cureus ; 16(1): e51596, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38313911

RESUMO

This case report elucidates the clinical and surgical journey of a 62-year-old patient with a history of multiple comorbidities including a severe acute respiratory syndrome coronavirus 2 (SARS­CoV­2) infection, presenting with temporospatial disorientation, bradypsychia, and bradyphasia, without motor deficits, diagnosed with sarcomatous meningioma and skull lysis. Amidst the complexities of managing primary brain tumors, this report underscores the significance of thorough morphopathological examination, while considering patient demographics and tumor localization in assessing the nature of the neoplasm. It highlights meningiomas as predominantly benign yet stemming from monoclonal proliferation, with their occurrence influenced by genetic predispositions and environmental factors such as ionizing radiation exposure. The intricate case details multiple surgical interventions necessitated by complications such as wound dehiscence and cerebrospinal fluid leaks, managed successfully through a tailored neurosurgical approach and meticulous postoperative care. This narrative reinforces the pivotal role of interdisciplinary collaboration, with substantial contributions from radiology, anesthesiology, intensive care, cardiology, infectious disease, and rehabilitation medicine in achieving favorable outcomes. The discussion contextualizes the patient's condition within the broader neurosurgical literature, reflecting on the prognostic factors associated with giant meningiomas and the impact of factors like age and tumor location on resection outcomes. The case also delves into the efficacy of Gamma Knife radiosurgery in long-term tumor control, drawing on retrospective analyses. In conclusion, the case report advocates for a nuanced, individualized treatment, where the integration of multiple disciplines and responsive management of postoperative complications is critical to patient recovery. The successful resolution of this patient's condition exemplifies the quintessential nature of interdisciplinary collaboration and highlights the potential for optimizing neurosurgical protocols in the context of complex patient profiles.

4.
Curr Issues Mol Biol ; 46(2): 1237-1258, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38392197

RESUMO

In recent years, the nexus between genetics and biomechanics has garnered significant attention, elucidating the role of genomic determinants in shaping the biomechanical attributes of human joints, specifically the knee. This review seeks to provide a comprehensive exploration of the molecular basis underlying knee joint locomotor function. Leveraging advancements in genomic sequencing, we identified specific genetic markers and polymorphisms tied to key biomechanical features of the knee, such as ligament elasticity, meniscal resilience, and cartilage health. Particular attention was devoted to collagen genes like COL1A1 and COL5A1 and their influence on ligamentous strength and injury susceptibility. We further investigated the genetic underpinnings of knee osteoarthritis onset and progression, as well as the potential for personalized rehabilitation strategies tailored to an individual's genetic profile. We reviewed the impact of genetic factors on knee biomechanics and highlighted the importance of personalized orthopedic interventions. The results hold significant implications for injury prevention, treatment optimization, and the future of regenerative medicine, targeting not only knee joint health but joint health in general.

5.
Medicina (Kaunas) ; 60(2)2024 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-38399589

RESUMO

This study conducts an in-depth analysis of the management of a complex arteriovenous malformation (AVM) in a 44-year-old individual, who initially manifested with acute left hemiparesis and progressively declined into a comatose state. Diagnostic neuroimaging identified a substantial right fronto-temporal intraparenchymal hematoma via a CT scan. Cerebral angiography further elucidated a choroidal AVM originating from the anterior choroidal artery, accompanied by intranidal aneurysms. The elected treatment strategy was the surgical excision of the AVM. The procedure achieved complete removal of the intracranial AVM, situated in a neurologically sensitive region, leading to notable neurological recovery. This study thoroughly explores and critically evaluates a wide spectrum of treatment approaches for intracranial arteriovenous malformations, including novel endovascular therapies. Despite extensive discourse on AVM in contemporary literature, this report is among the few documenting the treatment of a choroidal AVM via a microsurgical technique, and highlights various therapeutic options.


Assuntos
Embolização Terapêutica , Aneurisma Intracraniano , Malformações Arteriovenosas Intracranianas , Humanos , Adulto , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Angiografia Cerebral , Tomografia Computadorizada por Raios X
6.
Brain Sci ; 13(12)2023 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-38137148

RESUMO

Low-Grade Gliomas (LGGs) represent a diverse group of brain tumors originating from glial cells, characterized by their unique histopathological and molecular features. This article offers a comprehensive exploration of LGGs, shedding light on their subtypes, histological and molecular aspects. By delving into the World Health Organization's grading system, 5th edition, various specificities were added due to an in-depth understanding of emerging laboratory techniques, especially genomic analysis. Moreover, treatment modalities are extensively discussed. The degree of surgical resection should always be considered according to postoperative quality of life and cognitive status. Adjuvant therapies focused on chemotherapy and radiotherapy depend on tumor grading and invasiveness. In the current literature, emerging targeted molecular therapies are well discussed due to their succinctly therapeutic effect; in our article, those therapies are summarized based on posttreatment results and possible adverse effects. This review serves as a valuable resource for clinicians, researchers, and medical professionals aiming to deepen their knowledge on LGGs and enhance patient care.

7.
Int J Mol Sci ; 24(22)2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-38003309

RESUMO

With the inexorable aging of the global populace, neurodegenerative diseases (NDs) like Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) pose escalating challenges, which are underscored by their socioeconomic repercussions. A pivotal aspect in addressing these challenges lies in the elucidation and application of biomarkers for timely diagnosis, vigilant monitoring, and effective treatment modalities. This review delineates the quintessence of biomarkers in the realm of NDs, elucidating various classifications and their indispensable roles. Particularly, the quest for novel biomarkers in AD, transcending traditional markers in PD, and the frontier of biomarker research in ALS are scrutinized. Emergent susceptibility and trait markers herald a new era of personalized medicine, promising enhanced treatment initiation especially in cases of SOD1-ALS. The discourse extends to diagnostic and state markers, revolutionizing early detection and monitoring, alongside progression markers that unveil the trajectory of NDs, propelling forward the potential for tailored interventions. The synergy between burgeoning technologies and innovative techniques like -omics, histologic assessments, and imaging is spotlighted, underscoring their pivotal roles in biomarker discovery. Reflecting on the progress hitherto, the review underscores the exigent need for multidisciplinary collaborations to surmount the challenges ahead, accelerate biomarker discovery, and herald a new epoch of understanding and managing NDs. Through a panoramic lens, this article endeavors to provide a comprehensive insight into the burgeoning field of biomarkers in NDs, spotlighting the promise they hold in transforming the diagnostic landscape, enhancing disease management, and illuminating the pathway toward efficacious therapeutic interventions.


Assuntos
Doença de Alzheimer , Esclerose Lateral Amiotrófica , Doenças Neurodegenerativas , Doença de Parkinson , Humanos , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/metabolismo , Doença de Parkinson/diagnóstico , Doença de Parkinson/metabolismo , Doença de Alzheimer/diagnóstico , Biomarcadores/metabolismo
8.
Brain Sci ; 13(10)2023 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-37891732

RESUMO

This article critically evaluates the multifunctional role of the Golgi apparatus within neurological paradigms. We succinctly highlight its influence on neuronal plasticity, development, and the vital trafficking and sorting mechanisms for proteins and lipids. The discourse further navigates to its regulatory prominence in neurogenesis and its implications in Alzheimer's Disease pathogenesis. The emerging nexus between the Golgi apparatus and SARS-CoV-2 underscores its potential in viral replication processes. This consolidation accentuates the Golgi apparatus's centrality in neurobiology and its intersections with both neurodegenerative and viral pathologies. In essence, understanding the Golgi's multifaceted functions harbors profound implications for future therapeutic innovations in neurological and viral afflictions.

9.
Brain Sci ; 13(10)2023 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-37891822

RESUMO

This review initiates by outlining the clinical relevance of IA, underlining the pressing need to comprehend its foundational elements. We delve into the assorted risk factors tied to IA, spotlighting both environmental and genetic influences. Additionally, we illuminate distinct genetic syndromes linked to a pronounced prevalence of intracranial aneurysms, underscoring the pivotal nature of genetics in this ailment's susceptibility. A detailed scrutiny of genome-wide association studies allows us to identify key genomic changes and locations associated with IA risk. We further detail the molecular and physiopathological dynamics instrumental in IA's evolution and escalation, with a focus on inflammation's role in affecting the vascular landscape. Wrapping up, we offer a glimpse into upcoming research directions and the promising horizons of personalized therapeutic strategies in IA intervention, emphasizing the central role of genetic insights. This thorough review solidifies genetics' cardinal role in IA, positioning it as a cornerstone resource for professionals in the realms of neurology and genomics.

10.
Biomedicines ; 11(10)2023 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-37892991

RESUMO

Among the high prevalence of cerebrovascular diseases nowadays, acute ischemic stroke stands out, representing a significant worldwide health issue with important socio-economic implications. Prompt diagnosis and intervention are important milestones for the management of this multifaceted pathology, making understanding the various stroke-onset symptoms crucial. A key role in acute ischemic stroke management is emphasizing the essential role of a multi-disciplinary team, therefore, increasing the efficiency of recognition and treatment. Neuroimaging and neuroradiology have evolved dramatically over the years, with multiple approaches that provide a higher understanding of the morphological aspects as well as timely recognition of cerebral artery occlusions for effective therapy planning. Regarding the treatment matter, the pharmacological approach, particularly fibrinolytic therapy, has its merits and challenges. Endovascular thrombectomy, a game-changer in stroke management, has witnessed significant advances, with technologies like stent retrievers and aspiration catheters playing pivotal roles. For select patients, combining pharmacological and endovascular strategies offers evidence-backed benefits. The aim of our comprehensive study on acute ischemic stroke is to efficiently compare the current therapies, recognize novel possibilities from the literature, and describe the state of the art in the interdisciplinary approach to acute ischemic stroke. As we aspire for holistic patient management, the emphasis is not just on medical intervention but also on physical therapy, mental health, and community engagement. The future holds promising innovations, with artificial intelligence poised to reshape stroke diagnostics and treatments. Bridging the gap between groundbreaking research and clinical practice remains a challenge, urging continuous collaboration and research.

11.
Biomolecules ; 13(9)2023 09 14.
Artigo em Inglês | MEDLINE | ID: mdl-37759788

RESUMO

In this review article, we embark on a thorough exploration of cannabinoids, compounds that have garnered considerable attention for their potential therapeutic applications. Initially, this article delves into the fundamental background of cannabinoids, emphasizing the role of endogenous cannabinoids in the human body and outlining their significance in studying neurodegenerative diseases and cancer. Building on this foundation, this article categorizes cannabinoids into three main types: phytocannabinoids (plant-derived cannabinoids), endocannabinoids (naturally occurring in the body), and synthetic cannabinoids (laboratory-produced cannabinoids). The intricate mechanisms through which these compounds interact with cannabinoid receptors and signaling pathways are elucidated. A comprehensive overview of cannabinoid pharmacology follows, highlighting their absorption, distribution, metabolism, and excretion, as well as their pharmacokinetic and pharmacodynamic properties. Special emphasis is placed on the role of cannabinoids in neurodegenerative diseases, showcasing their potential benefits in conditions such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and multiple sclerosis. The potential antitumor properties of cannabinoids are also investigated, exploring their potential therapeutic applications in cancer treatment and the mechanisms underlying their anticancer effects. Clinical aspects are thoroughly discussed, from the viability of cannabinoids as therapeutic agents to current clinical trials, safety considerations, and the adverse effects observed. This review culminates in a discussion of promising future research avenues and the broader implications for cannabinoid-based therapies, concluding with a reflection on the immense potential of cannabinoids in modern medicine.


Assuntos
Doença de Alzheimer , Canabinoides , Doença de Huntington , Neoplasias , Doenças Neurodegenerativas , Humanos , Canabinoides/farmacologia , Canabinoides/uso terapêutico , Doenças Neurodegenerativas/tratamento farmacológico , Endocanabinoides/uso terapêutico , Neoplasias/tratamento farmacológico
12.
Biomedicines ; 11(9)2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37760930

RESUMO

This review delves into neuroimmunology, focusing on its relevance to multiple sclerosis (MS) and potential treatment advancements. Neuroimmunology explores the intricate relationship between the immune system and the central nervous system (CNS). Understanding these mechanisms is vital for grasping the pathophysiology of diseases like MS and for devising innovative treatments. This review introduces foundational neuroimmunology concepts, emphasizing the role of immune cells, cytokines, and blood-brain barrier in CNS stability. It highlights how their dysregulation can contribute to MS and discusses genetic and environmental factors influencing MS susceptibility. Cutting-edge research methods, from omics techniques to advanced imaging, have revolutionized our understanding of MS, offering valuable diagnostic and prognostic tools. This review also touches on the intriguing gut-brain axis, examining how gut microbiota impacts neuroimmunological processes and its potential therapeutic implications. Current MS treatments, from immunomodulatory drugs to disease-modifying therapies, are discussed alongside promising experimental approaches. The potential of personalized medicine, cell-based treatments, and gene therapy in MS management is also explored. In conclusion, this review underscores neuroimmunology's significance in MS research, suggesting that a deeper understanding could pave the way for more tailored and effective treatments for MS and similar conditions. Continued research and collaboration in neuroimmunology are essential for enhancing patient outcomes.

13.
Cells ; 12(17)2023 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-37681888

RESUMO

Camillo Golgi was an esteemed Italian physician and biologist who made major advances in malaria research between the late 19th and early 20th centuries. His groundbreaking contributions in histology, especially through the development of the Golgi staining technique, revolutionized our understanding of cell structures-including Plasmodium parasites-through visualization. Golgi staining also allowed researchers to observe its complex life cycle while documenting it. His careful observations of malaria led to the identification and characterization of its various stages, both asexual forms within human red blood cells, as well as sexual forms carried by mosquito vectors. Golgi's research highlighted the key role mosquitoes play in malaria transmission. He demonstrated the presence of Plasmodium sporozoites within the salivary glands of infected mosquitoes, providing insight into its life cycle and the dynamics of parasite transmission. His comprehensive approach contributed significantly to our understanding of malaria as a systemic illness, leading to subsequent research efforts within this field. The Golgi Protein complex is often located within the cis-Golgi of blood parasite life cycles and mosquito stages, indicating its possible role in optimizing asexual development during blood stages. Furthermore, its expression can be conditionally repressed or its gene can be inactivated to optimize this potential role in improving its functionality for optimizing sexual development during blood stages. Camillo Golgi remains one of the leading lights of malaria research today. His innovative staining techniques, detailed observations, and insightful interpretations have laid the groundwork for subsequent discoveries and advancements in malaria studies. By deciphering intricate parasite life cycle interactions with hosts, his work has provided invaluable insights into malaria biology, pathogenesis, and epidemiology.


Assuntos
Culicidae , Malária , Masculino , Humanos , Animais , Complexo de Golgi , Pessoal de Saúde , Técnicas Histológicas
14.
Int J Mol Sci ; 24(16)2023 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-37629187

RESUMO

Neurodegenerative disorders often acquire due to genetic predispositions and genomic alterations after exposure to multiple risk factors. The most commonly found pathologies are variations of dementia, such as frontotemporal dementia and Lewy body dementia, as well as rare subtypes of cerebral and cerebellar atrophy-based syndromes. In an emerging era of biomedical advances, molecular-cellular studies offer an essential avenue for a thorough recognition of the underlying mechanisms and their possible implications in the patient's symptomatology. This comprehensive review is focused on deciphering molecular mechanisms and the implications regarding those pathologies' clinical advancement and provides an analytical overview of genetic mutations in the case of neurodegenerative disorders. With the help of well-developed modern genetic investigations, these clinically complex disturbances are highly understood nowadays, being an important step in establishing molecularly targeted therapies and implementing those approaches in the physician's practice.


Assuntos
Demência Frontotemporal , Doença por Corpos de Lewy , Humanos , Atrofia , Demência Frontotemporal/genética , Demência Frontotemporal/terapia , Predisposição Genética para Doença , Genômica
15.
Int J Mol Sci ; 24(13)2023 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-37445986

RESUMO

Neurodegenerative diseases are, according to recent studies, one of the main causes of disability and death worldwide. Interest in molecular genetics has started to experience exponential growth thanks to numerous advancements in technology, shifts in the understanding of the disease as a phenomenon, and the change in the perspective regarding gene editing and the advantages of this action. The aim of this paper is to analyze the newest approaches in genetics and molecular sciences regarding four of the most important neurodegenerative disorders: Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. We intend through this review to focus on the newest treatment, diagnosis, and predictions regarding this large group of diseases, in order to obtain a more accurate analysis and to identify the emerging signs that could lead to a better outcome in order to increase both the quality and the life span of the patient. Moreover, this review could provide evidence of future possible novel therapies that target the specific genes and that could be useful to be taken into consideration when the classical approaches fail to shed light.


Assuntos
Doença de Alzheimer , Esclerose Lateral Amiotrófica , Doença de Huntington , Doenças Neurodegenerativas , Doença de Parkinson , Humanos , Doenças Neurodegenerativas/genética , Doença de Huntington/genética , Doença de Alzheimer/genética , Doença de Parkinson/genética , Esclerose Lateral Amiotrófica/genética
16.
Brain Sci ; 13(6)2023 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-37371444

RESUMO

It is yet unknown how the formation of an aneurysm inside the human body occurs. Thus, understanding and analyzing the Coanda effect will result in a better overview of the overall fluid mechanics that develop inside such a structure, leading not only to better treatment plans, but also to diminished postoperative risks. This paper presents how the fluid behaves in this situation, and takes into consideration how this physical phenomenon influences the hemodynamics inside numerous anatomical regions, located in the central nervous system, where aneurysms usually develop. Analyzing the three main areas in which cerebral aneurysms form, the Coanda effect can potentially lead to the rupture of the aneurysm by changing the blood flow trajectory; this should be taken into consideration when choosing a treatment plan, especially in postoperative care. In addition, there are other factors that can influence the evolution of an aneurysm, such as its shape, size, localization and the patient's health condition. Understanding and analyzing the Coanda effect will result in a better overview of the overall fluid mechanics that develop inside such a structure, leading not only to better treatment plans, but also to diminished postoperative risks.

17.
Biomedicines ; 12(1)2023 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-38275385

RESUMO

This review presents a comprehensive analysis of pituitary adenomas, a type of brain tumor with diverse behaviors and complexities. We cover various treatment approaches, including surgery, radiotherapy, chemotherapy, and their integration with newer treatments. Key to the discussion is the role of biomarkers in oncology for risk assessment, diagnosis, prognosis, and the monitoring of pituitary adenomas. We highlight advances in genomic, epigenomic, and transcriptomic analyses and their contributions to understanding the pathogenesis and molecular pathology of these tumors. Special attention is given to the molecular mechanisms, including the impact of epigenetic factors like histone modifications, DNA methylation, and transcriptomic changes on different subtypes of pituitary adenomas. The importance of the tumor immune microenvironment in tumor behavior and treatment response is thoroughly analyzed. We highlight potential breakthroughs and innovations for a more effective management and treatment of pituitary adenomas, while shedding light on the ongoing need for research and development in this field to translate scientific knowledge into clinical advancements, aiming to improve patient outcomes.

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