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1.
Curr Issues Mol Biol ; 46(7): 6903-6939, 2024 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-39057054

RESUMEN

Accounting for 48% of malignant brain tumors in adults, glioblastoma has been of great interest in the last decades, especially in the biomolecular and neurosurgical fields, due to its incurable nature and notable neurological morbidity. The major advancements in neurosurgical technologies have positively influenced the extent of safe tumoral resection, while the latest progress in the biomolecular field of GBM has uncovered new potential therapeutical targets. Although GBM currently has no curative therapy, recent progress has been made in the management of this disease, both from surgical and molecular perspectives. The main current therapeutic approach is multimodal and consists of neurosurgical intervention, radiotherapy, and chemotherapy, mostly with temozolomide. Although most patients will develop treatment resistance and tumor recurrence after surgical removal, biomolecular advancements regarding GBM have contributed to a better understanding of this pathology and its therapeutic management. Over the past few decades, specific biomarkers have been discovered that have helped predict prognosis and treatment responses and contributed to improvements in survival rates.

2.
Curr Issues Mol Biol ; 46(9): 9881-9894, 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39329940

RESUMEN

The race to find an effective treatment for glioblastoma (GBM) remains a critical topic, because of its high aggressivity and impact on survival and the quality of life. Currently, due to GBM's high heterogeneity, the conventional treatment success rate and response to therapy are relatively low, with a median survival rate of less than 20 months. A new point of view can be provided by the comprehension of the tumor microenvironment (TME) in pursuance of the development of new therapeutic strategies to aim for a longer survival rate with an improved quality of life and longer disease-free interval (DFI). The main components of the GBM TME are represented by the extracellular matrix (ECM), glioma cells and glioma stem cells (GSCs), immune cells (microglia, macrophages, neutrophils, lymphocytes), neuronal cells, all of them having dynamic interactions and being able to influence the tumoral growth, progression, and drug resistance thus being a potential therapeutic target. This paper will review the latest research on the GBM TME and the potential therapeutic targets to form an up-to-date strategy.

3.
Int J Mol Sci ; 25(18)2024 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-39337454

RESUMEN

This review offers an in-depth examination of amyotrophic lateral sclerosis (ALS), addressing its epidemiology, pathophysiology, clinical presentation, diagnostic techniques, and current as well as emerging treatments. The purpose is to condense key findings and illustrate the complexity of ALS, which is shaped by both genetic and environmental influences. We reviewed the literature to discuss recent advancements in understanding molecular mechanisms such as protein misfolding, mitochondrial dysfunction, oxidative stress, and axonal transport defects, which are critical for identifying potential therapeutic targets. Significant progress has been made in refining diagnostic criteria and identifying biomarkers, leading to earlier and more precise diagnoses. Although current drug treatments provide some benefits, there is a clear need for more effective therapies. Emerging treatments, such as gene therapy and stem cell therapy, show potential in modifying disease progression and improving the quality of life for ALS patients. The review emphasizes the importance of continued research to address challenges such as disease variability and the limited effectiveness of existing treatments. Future research should concentrate on further exploring the molecular foundations of ALS and developing new therapeutic approaches. The implications for clinical practice include ensuring the accessibility of new treatments and that healthcare systems are equipped to support ongoing research and patient care.


Asunto(s)
Esclerosis Amiotrófica Lateral , Esclerosis Amiotrófica Lateral/terapia , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/fisiopatología , Esclerosis Amiotrófica Lateral/metabolismo , Esclerosis Amiotrófica Lateral/genética , Humanos , Biomarcadores , Terapia Genética/métodos , Estrés Oxidativo , Animales , Mitocondrias/metabolismo
4.
Medicina (Kaunas) ; 60(8)2024 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-39202515

RESUMEN

Background and Objectives: Notwithstanding the major progress in the management of cancerous diseases in the last few decades, glioblastoma (GBM) remains the most aggressive brain malignancy, with a dismal prognosis, mainly due to treatment resistance and tumoral recurrence. In order to diagnose this disease and establish the optimal therapeutic approach to it, a standard tissue biopsy or a liquid biopsy can be performed, although the latter is currently less common. To date, both tissue and liquid biopsy have yielded numerous biomarkers that predict the evolution and response to treatment in GBM. However, despite all such efforts, GBM has the shortest recorded survival rates of all the primary brain malignancies. Materials and Methods: We retrospectively reviewed patients with a confirmed histopathological diagnosis of glioblastoma between June 2011 and June 2023. All the patients were treated in the Third Neurosurgical Department of the Clinical Emergency Hospital "Bagdasar-Arseni" in Bucharest, and their outcomes were analyzed and presented accordingly. Results: Out of 518 patients in our study, 222 (42.8%) were women and 296 (57.14%) were men. The most common clinical manifestations were headaches and limb paralysis, while the most frequent tumor locations were the frontal and temporal lobes. The survival rates were prolonged in patients younger than 60 years of age, in patients with gross total tumoral resection and less than 30% tumoral necrosis, as well as in those who underwent adjuvant radiotherapy. Conclusions: Despite significant advancements in relation to cancer diseases, GBM is still a field of great interest for research and in great need of new therapeutic approaches. Although the multimodal therapeutic approach can improve the prognosis, the survival rates are still short and the recurrences are constant.


Asunto(s)
Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/cirugía , Glioblastoma/mortalidad , Glioblastoma/terapia , Estudios Retrospectivos , Femenino , Masculino , Persona de Mediana Edad , Adulto , Anciano , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/mortalidad , Procedimientos Neuroquirúrgicos/estadística & datos numéricos , Procedimientos Neuroquirúrgicos/métodos , Resultado del Tratamiento , Anciano de 80 o más Años , Lituania/epidemiología
5.
Cureus ; 16(8): e67578, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39310480

RESUMEN

The intracranial development of breast metastasis inside a meningioma is a rare entity known as tumor-to-tumor metastasis or tumor-to-meningioma metastasis. Although rare such cases have been reported in the scientific literature, most of them are from breast and lung cancer, and even rarer from the genitourinary tract, while meningioma is the most cited to harbor these metastases. A thorough histopathological analysis represents the cornerstone of the diagnosis of these lesions. The current article presents a case of breast cancer metastasis developed inside a meningioma in a female patient, which is a rare metastatic presentation. Although hormonal causes have been incriminated, the pathophysiology of this phenomenon is still unclear.

6.
Cureus ; 16(8): e68003, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39347157

RESUMEN

Addressing the challenge of drug-resistant epilepsy, our study offers a novel perspective by retrospectively applying the 5-SENSE score, initially created for stereoelectroencephalography (SEEG) planning, to evaluate its predictive value in patients undergoing vagus nerve stimulation (VNS) therapy. We conducted a comprehensive preoperative diagnostic work-up, including computed tomography (CT), magnetic resonance imaging (MRI), positron emission tomography-CT (PET-CT), video-electroencephalogram (video-EEG), and clinical semiology. We then stratified 76 patients into three groups - low, moderate, and high focality - based on the focality of the seizure-onset zone. Such stratification was made to check the scoring ability in predicting VNS therapy seizure reduction. Our findings demonstrate an association between the extent of focality at the seizure-onset zone and the effectiveness of VNS, which may help to define the role of the 5-SENSE score in patient selection for VNS. This high dispersion of responses in the group with high focality reinforces the idea that outcome estimation is difficult and argues for an individualized strategy in the treatment of drug-resistant epilepsy. A study at the level of the 5-SENSE score indicates the importance of detailed preoperative assessments that may better optimize selection for VNS therapy and further improve clinical outcomes.

7.
Cureus ; 16(8): e67353, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39310566

RESUMEN

Giant dissecting aneurysms of the internal carotid artery are extremely uncommon, particularly in young adults. In this report, we provide a case of a 35-year-old male patient who experienced severe headaches, double vision, paralysis of the left abducens nerve, trigeminal neuralgia, nausea, and vomiting. The cerebral MRI showed an intensely gadolinophilic lesion following the left internal carotid artery route from the petrous canal; it also caused an internal deviation of the cavernous route of the internal carotid artery with a fluid heterogeneous area that pushed the cavernous dura mater (including the Gasser ganglion) on the free cisternal route of the trigeminal nerve. Furthermore, the cerebral angiography revealed a giant dissecting aneurysm at the C2-C4 junction of ICA, anteriorly oriented with perilesional stenoses. The interdisciplinary medical team determined that the most optimal therapeutic strategy would involve coil embolization, and the giant left ICA aneurysm was occluded along with the left ICA, with 15 giant platinum coils. Following the successful intervention, the patient experienced a remarkable clinical outcome, characterized by an immediate reversal of the majority of the symptoms. Although we were not certain of the alleviation of symptoms after the endovascular treatment, fortunately, the results were beyond expectations.

8.
Cureus ; 16(6): e61949, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38855489

RESUMEN

Duplication 20p or partial trisomy 20 is a rare chromosomal anomaly characterized by duplication of the short arm of chromosome 20, with various clinical abnormalities. Despite complete trisomy 20, which usually leads to prenatal death, partial trisomy 20 can manifest with variable phenotypes, from mild to severe manifestations. Here, we present a rare case of an 8-year-old boy diagnosed with trisomy 20, epilepsy with focal seizures of genetic origin, craniosynostosis, type 1 diabetes, and autism spectrum disorder. Duplication 20p is a complex diagnostic and presents a therapeutic challenge due to its diverse clinical manifestations. To succeed in the intricacy of such a unique and challenging case, a comprehensive clinical and genetic assessment must be performed.

9.
Neurosurg Rev ; 35(2): 195-202; discussion 202, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21960302

RESUMEN

We report here a retrospective study of 59 consecutive patients with olfactory groove meningiomas admitted and operated on between 1991 and 2008. Our goal was to characterize clinical features, treatment strategies, and outcome of these lesions. The surgical resection grade, the histological type and the presence of recurrences in the follow-up period were analyzed. Maximum tumor diameter determined by preoperative magnetic resonance imaging (MRI) examinations was between 2 and 11 cm. In 38 surgical procedures (64.4%), the tumor was removed through a bilateral subfrontal approach, in 12 (20.3%) a unilateral subfrontal approach was used, and in nine procedures (15.3%) a pterional approach was performed. The average age at presentation was 52 years (age: 20-76 years) and the sex ratio was 1.45:1 (females/males). According to Simpson's grading system, the degree of tumor removal was: grade I in 14 cases (23.8%), grade II in 38 cases (64.4%), grade III in four cases (6.8%) and grade IV in three cases (5%). Fifty-six patients had benign meningiomas (94.9%) and three patients had atypical meningiomas (5.1%). Two patients (3.4%) died from pulmonary embolism and bronchopneumonia. There were recurrences in six patients (10.1%), between 9 months and 12 years (mean 7.2 years) after surgery. The olfactory groove is a relatively frequent location for intracranial meningiomas, accounting for 9.1% of all intracranial meningiomas in our experience. Olfactory groove meningiomas tend to be clinically silent tumors until they are very large when symptoms or other abnormalities become evident. A surgical procedure adapted to the size and the extension of the tumor combined with microsurgical techniques allows total meningioma removal with good neurological outcome.


Asunto(s)
Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/cirugía , Meningioma/diagnóstico , Meningioma/cirugía , Complicaciones Posoperatorias/cirugía , Adulto , Anciano , Craneotomía , Femenino , Estudios de Seguimiento , Lóbulo Frontal/patología , Lóbulo Frontal/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Neoplasias Meníngeas/patología , Meningioma/patología , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/mortalidad , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
10.
Rom J Morphol Embryol ; 59(1): 367-373, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29940651

RESUMEN

Solitary extranevraxial plasmacytoma (SEP), as a clinical entity without signs of systemic myelomatosis, is extremely rare; it is difficult to find literature on the issue of patient management and proper course of action in the presence of associated pathology. The authors present a rare case of plasmacytoma of the skull vault associated with severe cardiac pathology, which made surgery extremely difficult and possible only through temporization of the interventions, as presented. We discuss our findings and opportunities for treatment in this case, which seemed unapproachable at presentation, in connection with the associated cardiac pathology. The case was followed-up for eight years with no recurrences.


Asunto(s)
Neoplasias Óseas/diagnóstico , Plasmacitoma/diagnóstico , Cráneo/patología , Adulto , Neoplasias Óseas/patología , Humanos , Masculino , Plasmacitoma/patología , Enfermedades Raras
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