disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes, characterized by neurodegeneration in the central nervous system and acanthocytosis in peripheral blood. It is a rare autosomal recessive genetic disorder caused by loss-of-function variants in the VPS13A gene, which is currently the only known pathogenic gene for ChAc. VPS13A protein is a member of novel bridge-like lipid transfer proteins family located at membrane contact sites, forming direct channels for lipid transport.
View Article and Find Full Text PDFOxidative stress causes diverse neurological disorders. Parthanatos is a type of programmed cell death, characterised by strong activation of poly (ADP-ribose) (PAR) polymerase-1 (PARP-1), PAR polymer accumulation, and nuclear translocation of apoptosis-inducing factor (AIF), and is involved in cellular oxidative injury. Signalling by c-Jun-N-terminal protein kinase (JNK) is activated by reactive oxygen species (ROS), and this also contributes to ROS production.
View Article and Find Full Text PDFBackground: Depression is a significant public health issue, closely associated with epilepsy and oxidative stress (OS). This study aims to explore the level of OS in patients with epilepsy and its relationship with moderate to severe depression (MSD).
Methods: This cross-sectional study includes 10,819 participants aged 20-80 from the National Health and Nutrition Examination Survey (NHANES) database (2013-2020 pre-pandemic).
Background: Neuroinflammation plays an important pathophysiological role in epilepsy; however, the precise connection between immune cells and epilepsy remains unclear. This study used Mendelian randomization (MR) to analyze the causal relationship between 731 immune cell traits and epilepsy.
Methods: Based on data from a genome-wide association study (GWAS), a bidirectional two-sample MR analysis was conducted to investigate the potential influence of immune cell phenotypes on epilepsy.
Background: An increasing body of research has demonstrated a robust correlation between circulating inflammatory proteins and neuromyelitis optica spectrum disorders (NMOSD). However, whether this association is causal or whether immune cells act as mediators currently remains unclear.
Methods: We employed bidirectional two-sample Mendelian randomization (TSMR) analysis to examine the potential causal association between circulating inflammatory proteins, immune cells, and NMOSD using data from genome-wide association studies (GWAS).
Blepharospasm is a focal dystonia characterized by involuntary tetanic contractions of the orbicularis oculi muscle, which can lead to functional blindness and loss of independent living ability in severe cases. It usually occurs in adults, with a higher incidence rate in women than in men. The etiology and pathogenesis of this disease have not been elucidated to date, but it is traditionally believed to be related to the basal ganglia.
View Article and Find Full Text PDFBackground: Inflammation plays a role in the development and advancement of epilepsy, but the relationship between inflammatory cytokines and epilepsy is still not well understood. Herein, we use two-sample Mendelian randomization (MR) to examine the causal association between systemic inflammatory cytokines and epilepsy.
Methods: We conducted a bidirectional two-sample MR analysis based on genome-wide association study data of 41 serum cytokines from 8293 Finnish individuals with various epilepsy subtypes from the International League against Epilepsy Consortium.
To investigate the effectiveness of nasal delivery of levetiracetam (LEV) on the distributions of synaptic vesicle protein 2 isoform A (SV2A) in epileptic rats with injection of kainic acid (KA) into amygdala. A total of 138 rats were randomly divided into four groups, including the Sham surgery group, the epilepsy group (EP), and the LEV oral administration (LPO) and nasal delivery (LND) groups. The rat intra-amygdala KA model of epilepsy was constructed.
View Article and Find Full Text PDFBackground: We previously introduced the one-and-a-half (1½) nostril endoscopic transsphenoidal approach (OETA) to reduce the damage to the nasal structures. Here, we reported the modified approach which is called the endoscopic 1½-transseptal approach (EOTA) for pituitary surgery by combining the OETA and the microscopic transseptal approach to simplify intranasal procedures and protect nasal mucosa. In EOTA, we removed the sellar lesions in a corridor that is composed of the right submucosal space and the anterior left ½ nasal cavity.
View Article and Find Full Text PDFEpilepsy is defined as spontaneous recurrent seizures in the brain. There is increasing evidence that inflammatory mediators and immune cells are involved in epileptic seizures. As more research is done on inflammatory factors and immune cells in epilepsy, new targets for the treatment of epilepsy will be revealed.
View Article and Find Full Text PDFBackground: Intraventricular hemorrhage (IVH) is one of the most fatal types of intracerebral hemorrhage (ICH), especially when the third and the fourth ventricles are involved. The use of external ventricular drainage is limited for evacuation of hemorrhage in the lateral ventricles. Endoscopic surgery can provide visualized evacuation of the hemorrhage in the lateral and third ventricles.
View Article and Find Full Text PDFPurpose: Malondialdehyde (MDA) is an oxidative stress marker that determines the impact of oxidation on MDA levels in patients with epilepsy (PWE) and healthy controls.
Methods: A meta-analysis was performed on 15 published studies. A total of 559 PWE and 853 healthy controls were included to evaluate the MDA levels in erythrocytes, serum, and plasma, respectively.
Background: Antibodies against the 65-kDa isoform of glutamic acid decarboxylase (GAD65) are biomarkers of autoimmune disorders and are more common in non-neurological autoimmune diseases than in neurological disorders. As for the central nervous system (CNS), it is well known that GAD65 is primarily associated with stiff-person syndrome, cerebellar ataxia, epilepsy, and paraneoplastic neurological syndrome. However, GAD65 antibodies have not been reported in patients with brain tumors.
View Article and Find Full Text PDFBackground: Traumatic brain injury (TBI) is a significant cause of morbidity and mortality across all age groups. Decompressive hemicraniectomy is the treatment for TBI-related refractory intracranial hypertension. The traditional technique for this procedure can result in wound complications due to injury of the scalp flap's vascular supply, namely the superficial temporal and postauricular arteries.
View Article and Find Full Text PDFBackground: Although surgeries for intracerebral hemorrhage remain controversial, endoscopic surgery is considered a promising surgical treatment. The most fatal type of thalamic hemorrhage is the medial type, which is always combined with expansion of the hematoma into the third ventricle. The current endoscopic approach to this lesion involves injury to the mediodorsal nucleus of the thalamus (MDT).
View Article and Find Full Text PDFSurgical removal of anterior clinoidal meningiomas (ACMs) remains a challenge because of its complicated relationship with surrounding meninges, major arteries and cranial nerves. This study aims to define the meningeal structures around the anterior clinoid process (ACP) and its surgical implications. Five dry skulls and 19 cadavers were used in the anatomical study.
View Article and Find Full Text PDFBackground: Gliomas are the most prevalent type of intracranial tumors. NKCC1 is an important regulator in tumor cell volume. We noticed that abnormally high NKCC1 expression resulted in changes in the shape and adhesion of glioma cells.
View Article and Find Full Text PDFWorld J Clin Cases
August 2019
Background: Surgical treatment for large carotid body tumor (CBT), particularly the Shamblin III type, is challenging and rarely reported.
Case Summary: In July 2014, a 63-year-old woman presented to our hospital with a large CBT (130 mm × 60 mm × 70 mm). The lesion was hypervascular, spanned from the first to the seventh cervical vertebra, and adhered to the right common carotid artery (CCA), internal carotid artery (ICA) and external carotid artery (ECA).
Pancreatic ductal adenocarcinoma (PDAC) has a dismal prognosis largely owing to inefficient diagnosis and tenacious drug resistance. Activation of pancreatic stellate cells (PSCs) and consequent development of dense stroma are prominent features accounting for this aggressive biology. The reciprocal interplay between PSCs and pancreatic cancer cells (PCCs) not only enhances tumour progression and metastasis but also sustains their own activation, facilitating a vicious cycle to exacerbate tumorigenesis and drug resistance.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
March 2019