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1.
J Cell Mol Med ; 28(7): e18159, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38494861

RESUMO

Gastric cancer (GC) represents a major global health burden and is responsible for a significant number of cancer-related fatalities. Its complex nature, characterized by heterogeneity and aggressive behaviour, poses considerable challenges for effective diagnosis and treatment. Single-cell RNA sequencing (scRNA-seq) has emerged as an important technique, offering unprecedented precision and depth in gene expression profiling at the cellular level. By facilitating the identification of distinct cell populations, rare cells and dynamic transcriptional changes within GC, scRNA-seq has yielded valuable insights into tumour progression and potential therapeutic targets. Moreover, this technology has significantly improved our comprehension of the tumour microenvironment (TME) and its intricate interplay with immune cells, thereby opening avenues for targeted therapeutic strategies. Nonetheless, certain obstacles, including tumour heterogeneity and technical limitations, persist in the field. Current endeavours are dedicated to refining protocols and computational tools to surmount these challenges. In this narrative review, we explore the significance of scRNA-seq in GC, emphasizing its advantages, challenges and potential applications in unravelling tumour heterogeneity and identifying promising therapeutic targets. Additionally, we discuss recent developments, ongoing efforts to overcome these challenges, and future prospects. Although further enhancements are required, scRNA-seq has already provided valuable insights into GC and holds promise for advancing biomedical research and clinical practice.


Assuntos
Pesquisa Biomédica , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/genética , Perfilação da Expressão Gênica , Análise de Sequência de RNA , Microambiente Tumoral/genética
2.
World Neurosurg X ; 23: 100335, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38544786

RESUMO

Spine surgery is continually evolving, with the application of new technologies often serving as a catalyst for improved clinical outcomes. Exoscope-assisted spinal surgery has recently emerged as a notable technological advancement offering a refined approach to visualisation, thereby potentially contributing to improved surgical precision, reduced complication rates, and optimised patient outcomes. The application of exoscopes have improved spine surgeries such as spinal fusion procedures, decompression surgeries, instrumentation surgeries, minimally invasive and complex surgeries. These improvements include enhanced visualisation, improved ergonomics, improved surgical precision, reduced operation times and postoperative infection rates. The integration of robotics in exoscope-assisted spine surgery enables autofocus function, ensuring the integrity of the sterile field, providing superior image quality, resolution, and three-dimensional perception. However, challenges such as decrease in depth perception and the lack of long-term follow-up data hinder its widespread adoption. Ethical considerations regarding patient safety, technology dependency, and health inequity add another dimension to these challenges. Despite these challenges, exoscope-assisted spine surgery holds significant potential for transforming clinical practice and improving patient outcomes. This review seeks to provide a concise overview of the benefits and limits of exoscope-assisted spine surgeries, while highlighting its challenges and ethical considerations. Addressing these limitations by conducting large-scale clinical trials and exploring the integration of artificial intelligence (AI) could assist in realising the potential of exoscopes in spine surgery."

3.
SAGE Open Med ; 12: 20503121231221941, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38162912

RESUMO

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

4.
SAGE Open Med Case Rep ; 12: 2050313X241229058, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38292875

RESUMO

Burnside-Butler syndrome is an inheritable genetic condition characterized by the partial deletion of specific genetic material located on chromosome 15q11. Individuals diagnosed with this particular medical condition display a variety of neuropsychiatric disorders, including psychosis, aggression, mood disorders, anxiety disorders, developmental disorders involving learning difficulties, language delays, autism spectrum disorders, and attention-deficit/hyperactivity disorder. The authors discuss the case of a 51-year-old Caucasian female diagnosed with Burnside-Butler syndrome at 8 years. The article highlights the importance of raising awareness regarding the complex nature and delayed onset of neuropsychiatric symptoms associated with this syndrome. It also emphasizes the need for comprehensive evaluation and multidisciplinary care for individuals affected by this uncommon condition.

5.
Eur J Med Res ; 28(1): 529, 2023 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-37974227

RESUMO

Single-cell ribonucleic acid sequencing (scRNA-seq) has emerged as a transformative technology in neurological and neurosurgical research, revolutionising our comprehension of complex neurological disorders. In brain tumours, scRNA-seq has provided valuable insights into cancer heterogeneity, the tumour microenvironment, treatment resistance, and invasion patterns. It has also elucidated the brain tri-lineage cancer hierarchy and addressed limitations of current models. Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis have been molecularly subtyped, dysregulated pathways have been identified, and potential therapeutic targets have been revealed using scRNA-seq. In epilepsy, scRNA-seq has explored the cellular and molecular heterogeneity underlying the condition, uncovering unique glial subpopulations and dysregulation of the immune system. ScRNA-seq has characterised distinct cellular constituents and responses to spinal cord injury in spinal cord diseases, as well as provided molecular signatures of various cell types and identified interactions involved in vascular remodelling. Furthermore, scRNA-seq has shed light on the molecular complexities of cerebrovascular diseases, such as stroke, providing insights into specific genes, cell-specific expression patterns, and potential therapeutic interventions. This review highlights the potential of scRNA-seq in guiding precision medicine approaches, identifying clinical biomarkers, and facilitating therapeutic discovery. However, challenges related to data analysis, standardisation, sample acquisition, scalability, and cost-effectiveness need to be addressed. Despite these challenges, scRNA-seq has the potential to transform clinical practice in neurological and neurosurgical research by providing personalised insights and improving patient outcomes.


Assuntos
Neoplasias Encefálicas , Neurologia , Neurocirurgia , Humanos , Procedimentos Neurocirúrgicos , Neoplasias Encefálicas/genética , Análise de Sequência de RNA , Microambiente Tumoral
6.
SAGE Open Med Case Rep ; 11: 2050313X231180747, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37440972

RESUMO

Nicolau syndrome is a rare condition characterized by severe pain at the site of injection, leading to ulceration and necrosis of the local tissues. Its presentation is usually acute. Nicolau syndrome is commonly seen in patients after intramuscular, intra-articular, or subcutaneous injections of non-steroidal anti-inflammatory drugs, antiepileptics, antipsychotics, antibiotics, antihistamines, and corticosteroids. Immediate diagnosis and management of this syndrome are of great importance. We herein report a rare presentation of Nicolau syndrome in a 36-year-old married male who suffered from paranoid schizophrenia for the past 3 years. The patient presented with dull pain, mild swelling, and necrotic ulceration over the injection site after receiving intramuscular fluphenazine. The patient underwent wound debridement and was given prophylactic antibiotics. Despite a wide range of therapeutic options for the management of Nicolau syndrome described in the literature, there exist limited guidelines for its management.

7.
Discoveries (Craiova) ; 10(2): e148, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36530177

RESUMO

Almost one in every 20 pregnant women self-reports marijuana use during pregnancy. During the COVID-19 pandemic, this number has risen to 1 in 6 pregnant women. Some of the main factors associated with cannabis use during pregnancy and lactation are management of chronic conditions, sensation-seeking, dealing with stress, and other conditions related to pregnancy. The action of cannabis on endocannabinoid receptors might cause poor blastocyst implantation, inhibition of decidualization, compromised placentation, miscarriage and poor embryo development.The children born to mothers who used cannabis during pregnancy manifested higher aggression, anxiety, hyperactivity, and higher levels of the hormone cortisol, compared to children of non-cannabis users. In this review we summarize the effects of cannabis use on fetal development during the COVID-19 pandemic based on the existing published peer-reviewed scientific literature. The COVID-19 pandemic has served as an additional stimulus that has increased cannabis use among pregnant women. Prenatal cannabis use is associated with health risks for the mother and child. Cannabis use in pregnant mothers is associated with low infant birth weight and potential negative neurodevelopmental effects in the offspring. It remains unclear how long these changes will persist in the affected children. It is essential that clinicians educate pregnant women about the harm of prenatal cannabis use, improve strategies to support women at risk, and create new intervention strategies to help them stop using cannabis.

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