GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

Genetic epilepsy with febrile seizures plus (GEFS+) is a genetic epilepsy syndrome characterized by a marked hereditary tendency inherited as an autosomal dominant trait. Patients with GEFS+ may develop typical febrile seizures (FS), while generalized tonic-clonic seizures (GTCSs) with fever commonly occur between 3 months and 6 years of age, which is generally followed by febrile seizure plus (FS+), with or without absence seizures, focal seizures, or GTCSs. GEFS+ exhibits significant genetic heterogeneity, with polymerase chain reaction, exon sequencing, and single nucleotide polymorphism analyses all showing that the occurrence of GEFS+ is mainly related to mutations in the gamma-aminobutyric acid type A receptor gamma 2 subunit (GABRG2) gene.

Alterations in brain network functional connectivity and topological properties in DRE patients.

Objective: The study aimed to find the difference in functional network topology on interictal electroencephalographic (EEG) between patients with drug-resistant epilepsy (DRE) and healthy people.

Methods: We retrospectively analyzed the medical records as well as EEG data of ten patients with DRE and recruited five sex-age-matched healthy controls (HC group). Each participant remained awake while undergoing video-electroencephalography (vEEG) monitoring.

Analysis of sodium phenylbutyrate and taurursodiol survival effect in ALS using external controls.

Objective: Sodium phenylbutyrate and taurursodiol (PB and TURSO) was evaluated in amyotrophic lateral sclerosis (ALS) in the CENTAUR trial encompassing randomized placebo-controlled and open-label extension phases. On intent-to-treat (ITT) survival analysis, median overall survival (OS) was 4.8 months longer and risk of death 36% lower in those originally randomized to an initial 6-month double-blind period of PB and TURSO versus placebo.

Brain functional connectivity and network characteristics changes after vagus nerve stimulation in patients with refractory epilepsy.

Objective: This study aims to investigate the impact of vagus nerve stimulation (VNS) on the connectivity and small-world metrics of brain functional networks during seizure periods.

Methods: Ten refractory epilepsy patients underwent video encephalographic monitoring before and after VNS treatment. The 2-min electroencephalogram segment containing the ictal was selected for each participant, resulting in a total of 20 min of seizure data.

Urban heat vulnerability: A dynamic assessment using multi-source data in coastal metropolis of Southeast China.

Extreme heat caused by global climate change has become a serious threat to the sustainable development of urban areas. Scientific assessment of the impacts of extreme heat on urban areas and in-depth knowledge of the cross-scale mechanisms of heat vulnerability forming in urban systems are expected to support policymakers and stakeholders in developing effective policies to mitigate the economic, social, and health risks. Based on the perspective of the human-environment system, this study constructed a conceptual framework and index system of "exposure-susceptibility-adaptive capacity" for urban heat vulnerability (UHV) and proposed its assessment methods.

Chronobiological Patterns of Aneurysmal Subarachnoid Hemorrhage in Central China.

Background: Aneurysmal subarachnoid hemorrhage (aSAH) is an acute and sometimes fatal cerebrovascular disease. The chronobiological patterns of aSAH are still unclear worldwide. This 15-year time-series study aims to clarify the chronobiological patterns including seasonal, monthly, weekly, and circadian distributions of aSAH.

Arrangement of boundary electrodes for detection of frontal lobe disease with electrical impedance tomography.

Caused by brain trauma or blood vessel abnormality, intracerebral hemorrhage and secondary ischemia have become prevalent and severe neurological diseases. The timely and accurate detection of disease is essential for the recovery of patients. As an emerging visualization technique, electrical impedance tomography (EIT) offers an alternative.

A new surgical method of treatment spontaneous intracranial hemorrhage.

Objective: This study aimed to determine the safety and effectiveness of DTI-assisted neuroendoscopy for treating intracranial hemorrhage (ICH).

Methods: This retrospective study included clinical data from 260 patients with spontaneous supratentorial ICH who received neuroendoscopic hematoma removal. Patients were separated into groups based on the surgery method they received: DTI-assisted neuroendoscopy (69 cases) and standard neuroendoscopy (191 cases).

The Role of Aspirin in the Management of Intracranial Aneurysms: A Systematic Review and Meta-Analyses.

To evaluate the association between aspirin use and the risks of unruptured intracranial aneurysm (UIA) growth and aneurysmal subarachnoid hemorrhage (aSAH). We searched PubMed and Scopus from inception to 1 September 2020. Studies evaluating the associations between aspirin prescription and the risk of UIA growth or the risk of aSAH were included.

Non-Coding RNAs as Circulating Biomarkers for the Diagnosis of Intracranial Aneurysm: A Systematic Review and Meta-Analysis.

Background: Early diagnosis of intracranial aneurysm (IA) is arduous in the current situation, and no biomarker is available for the screening of IA. We here systematically evaluate the diagnostic value of circulating non-coding RNA (ncRNA) for the diagnosis of IA.

Methods: We searched PubMed, Web of Science, Embase, Scopus and Cochrane Library databases from inception to June 2020.

Kinesin Family Member C1 Increases Temozolomide Resistance of Glioblastoma Through Promoting DNA Damage Repair.

Glioblastoma (GBM) is one of the most frequent primary malignant brain tumors with a poor prognosis. Unfortunately, due to the intrinsic or acquired chemoresistance of GBM cells, it easily becomes refractory disease and tumors are easy to recur. Therefore, it is critical to elucidate the molecular mechanisms underlying the chemoresistance of GBM cells to discover more efficient therapeutic treatments.

Sparse image reconstruction of intracerebral hemorrhage with electrical impedance tomography.

Intracerebral hemorrhage (ICH) is a common disease that is known for its high morbidity, high mortality, and high disability. The fast and accurate detection of ICH is essential for the acute care of patients. Electrical impedance tomography (EIT) offers an alternative with which pathological tissues can be detected by reconstructing conductivity variation.

Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors.

Background: Bromodomain and extra-terminal domain proteins are promising epigenetic anticancer drug targets. This first-in-human study evaluated the safety, recommended phase II dose, pharmacokinetics, pharmacodynamics, and preliminary antitumor activity of the bromodomain and extra-terminal domain inhibitor molibresib (GSK525762) in patients with nuclear protein in testis (NUT) carcinoma (NC) and other solid tumors.

Methods: This was a phase I and II, open-label, dose-escalation study.

Phase I, Open-Label, Dose-Escalation Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of GSK2879552 in Relapsed/Refractory SCLC.

Introduction: This first-time-in-humans study assessed the safety, pharmacokinetics (PK), pharmacodynamics (PD), and clinical activity of GSK2879552 in patients with relapsed or refractory SCLC.

Methods: This phase I, multicenter, open-label study (NCT02034123) enrolled patients (≥18 years old) with relapsed or refractory SCLC (after ≥1 platinum-containing chemotherapy or refusal of standard therapy). Part 1 was a dose-escalation study; Part 2 was a dose-expansion study.

Stereotactic aspiration for hypertensive intracerebral haemorrhage in a Chinese population: a retrospective cohort study.

Objective: We aimed to compare the therapeutic effects of stereotactic aspiration and best medical management in patients who developed supratentorial hypertensive intracerebral haemorrhage (HICH) with a volume of haemorrhage between 20 and 40 mL.

Methods: The clinical data of 220 patients with supratentorial HICH with a volume between 20 and 40 mL were retrospectively analysed. Among them, 142 received stereotactic aspiration surgery (stereotactic aspiration group) and 78 received best medical management (conservative group).

MicroRNA-130b promotes cell migration and invasion by inhibiting peroxisome proliferator-activated receptor-γ in human glioma.

Glioma is the most common and aggressive type of primary brain tumor. MicroRNA (miR)-130b functions as a tumor-associated miR. The dysregulation of miR-130b is involved in numerous biological characteristics and properties of certain types of cancer.

A Phase 1/1b Study Evaluating Trametinib Plus Docetaxel or Pemetrexed in Patients With Advanced Non-Small Cell Lung Cancer.

Objectives: This two-part study evaluated trametinib, a MEK1/2 inhibitor, in combination with anticancer agents. Inhibition of MEK, a downstream effector of KRAS, demonstrated preclinical synergy with chemotherapy in KRAS-mutant NSCLC cell lines. Part 1 of this study identified recommended phase 2 doses of trametinib combinations.

Activity of the oral mitogen-activated protein kinase kinase inhibitor trametinib in RAS-mutant relapsed or refractory myeloid malignancies.

Background: RAS/RAF/mitogen-activated protein kinase activation is common in myeloid malignancies. Trametinib, a mitogen-activated protein kinase kinase 1 (MEK1)/MEK2 inhibitor with activity against multiple myeloid cell lines at low nanomolar concentrations, was evaluated for safety and clinical activity in patients with relapsed/refractory leukemias.

Methods: This phase 1/2 study accrued patients with any relapsed/refractory leukemia in phase 1.

ATPase inhibitory factor 1 is a potential prognostic marker for the migration and invasion of glioma.

Adenosine triphosphatase inhibitory factor 1 (IF1) has previously been considered to be a driving oncogene in human cancers. Several studies have revealed that IF1 overexpression is present in a variety of tumor types and promotes tumor growth and metastasis. The present study aimed to investigate the clinical significance of IF1 in glioma and the role of IF1 in cell migration and invasion.

Evaluation of TAZ expression and its effect on tumor invasion and metastasis in human glioma.

Objectives: To evaluate the expression of TAZ and its role in tumor invasion and metastasis in human glioma.

Methods: The expression of TAZ protein was measured in 48 samples of surgically resected human glioma and 13 samples of normal brain tissues using immunohistochemistry. TAZ was knocked down by a retrovirus-mediated TAZ shRNA in a glioma cell line, SNB19.

Optimal dose-finding designs with correlated continuous and discrete responses.

In dose-finding clinical studies, it is common that multiple endpoints are of interest. For instance, in phase I/II studies, efficacy and toxicity are often the primary endpoints, which are observed simultaneously and which need to be evaluated together. Motivated by this, we confine ourselves to bivariate responses and focus on the most analytically difficult case: a mixture of continuous and categorical responses.