Precision medicine neurology

BACKGROUND: Yi-Qi-Huo-Xue Decoction (YQHXD), a traditional Chinese medicine formula, has demonstrated efficacy in the clinical treatment of intracerebral hemorrhage (ICH) for over a decade. Nevertheless, the precise pharmacotherapeutic compounds of YQHXD capable of penetrating into cerebral tissue and the pharmacological underpinnings of YQHXD remain ambiguous. METHODS: The active components of YQHXD in rat brains was analyzed by ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry...

Ocular health is currently a major concern for astronauts on current and future long-duration spaceflight missions. Spaceflight-associated neuro-ocular syndrome (SANS) is a collection of ophthalmic and neurologic findings that is one potential physiologic barrier to interplanetary spaceflight. Since its initial report in 2011, our understanding of SANS has advanced considerably, with a primary focus on posterior ocular imaging including fundus photography and optical coherence tomography. However, there may be changes to the anterior segment that have not been identified...

Microstate analysis is a spatiotemporal method where instantaneous scalp potential topography represents the current state of the brain. The temporal evolution of these scalp topographies gives an understanding of quasi-stable periods of long-range coherence between distant electrodes, reflecting functional coordination within large-scale cortical networks. It has been proven potential in identification and characterization of neurophysiological indicators associated with neuropsychiatric conditions. Changes in microstates connected to symptoms and cognitive impairments of neuropsychiatric conditions...

OBJECTIVE: High-intensity magnetic resonance-guided focused ultrasound (MRgFUS) is a non-invasive therapy to lesion brain tissue, used clinically in patients and pre-clinically in several animal models. Challenges with focused ablation in rodent brains can include skull and near-field heating and accurately targeting small and deep brain structures. We overcame these challenges by creating a novel method consisting of a craniectomy skull preparation, a high-frequency transducer (3 MHz) with a small ultrasound focal spot, a transducer positioning system with an added manual adjustment of ∼0...

BACKGROUND: Current guidelines on extracorporeal cardiopulmonary resuscitation (ECPR) recommend careful patient selection, but precise criteria are lacking. Arterial carbon dioxide tension (PaCO2 ) has prognostic value in out-of-hospital cardiac arrest (OHCA) patients but has been less studied in patients receiving ECPR. We studied the relationship between PaCO2 during cardiopulmonary resuscitation (CPR) and neurological outcomes of OHCA patients receiving ECPR and tested whether PaCO2 could help ECPR selection...

Several studies have reported the importance of preoperative simulations. This report describes the methods and utility of neuroendovascular treatment using a three-dimensional(3D)-printed hollow cerebral aneurysm model. This model was created using a stereolithography apparatus-type 3D printer with digital imaging and communications in medicine data from 3D digital subtraction angiograms. The 3D model was used to perform preoperative simulations of microcatheter placement in aneurysms, microguidewire manipulation, and stent deployment...

With the advent of high-resolution imaging and advancements in computational fluid dynamics(CFD)and computational structural mechanics(CSM)analyses, clinical simulation of endovascular intervention has gradually become feasible. Virtual stents have become indispensable for coil embolization. For braided stents, such as those with low-profile visualized intraluminal support and flow diverters, predicting postplacement elongation and contraction is challenging; however, software development has enabled more precise treatment planning...

The 2017 International League Against Epilepsy (ILAE) classification suggested that the term "genetic generalized epilepsies" (GGEs) should be used for the broad group of epilepsies with so-called "generalized" seizure types and "generalized" spike-wave activity on EEG, based on a presumed genetic etiology. Within this framework, idiopathic generalized epilepsies (IGEs) are described as a subset of GGEs and include only four epileptic syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone...

OBJECTIVES: Carbamazepine (CBZ) is one of the oldest, yet first line drugs for treating epilepsy. However, there is a large inter-individual difference in requirement of maintenance dose and one third of persons treated with antiepileptic drugs (AEDs) exhibit drug resistance to therapy. One of the proposed mechanisms for the drug resistance was increased expression of efflux transporter P-glycoprotein. The pharmacogenetic studies of drug transporters ( ABCB1 ) done in combination therapies of AEDs were inconclusive...

Ischemic stroke, which accounts for 87% of cerebrovascular accidents, is responsible for massive global burden both in terms of economic cost and personal hardship. Many stroke survivors face long-term disability-a phenotype associated with an increasing number of genetic variants. While clinical variables such as stroke severity greatly impact recovery, genetic polymorphisms linked to functional outcome may offer physicians a unique opportunity to deliver personalized care based on their patient's genetic makeup, leading to improved outcomes...

Measuring causal brain network is a significant topic for exploring complex brain functions. While various data-driven algorithms have been proposed, they still have some drawbacks such as ignoring time non-separability, cumbersome parameter settings, and poor robustness. To solve these deficiencies, we developed a novel framework: "time-shift permutation cross-mapping, TPCM," integrating steps of (1) delayed improved phase-space reconstruction (DIPSR), (2) rank transformation of embedding vectors' distances, (3) cross-mapping with a fitting estimation, and (4) causality quantification using multi-delays...

ETHNOPHARMACOLOGICAL RELEVANCE: Rosa damascena is an ancient plant with significance in both medicine and perfumery that have a variety of therapeutic properties, including antidepressant, anti-anxiety, and anti-stress effects. Rose damascena essential oil (REO) has been used to treat depression, anxiety and other neurological related disorders in Iranian traditional medicine. However, its precise mechanism of action remains elusive. AIM OF THE STUDY: The aim of this study was to investigate the impact and mechanism underlying the influence of REO on chronic unpredictable mild stress (CUMS) rats...

Goal: Dynamically monitoring serotonin in real-time within target brain regions would significantly improve the diagnostic and therapeutic approaches to a variety of neurological and psychiatric disorders. Current systems for measuring serotonin lack immediacy and portability and are bulky and expensive. Methods: We present a new miniaturised device, named SmartFSCV, designed to monitor dynamic changes of serotonin using fast-scan cyclic voltammetry (FSCV). This device outputs a precision voltage potential between -3 to +3 V, and measures current between -1...

OBJECTIVES: This study aimed to evaluate the effectiveness of the Trauma Rating Index in Age, Glasgow Coma Scale, Respiratory rate and Systolic blood pressure score (TRIAGES) in predicting 24-hour in-hospital mortality among patients aged 65 years and older with isolated traumatic brain injury (TBI). DESIGN: A retrospective, single-centre cohort study. SETTING: This study was conducted at a government-run tertiary comprehensive hospital. PARTICIPANTS: This study included 982 patients aged 65 years or older with isolated TBI, who were admitted to the emergency department between 1 January 2020 and 31 December 2021...

FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are largely unknown, and variants in FRYL have not previously been associated with a Mendelian disease. Here, we report fourteen individuals with heterozygous variants in FRYL who present with developmental delay, intellectual disability, dysmorphic features, and other congenital anomalies in multiple systems. The variants are confirmed de novo in all individuals except one...

Aptamers developed using in vitro Systematic Evolution of Ligands by Exponential Enrichment (SELEX) technology are single-stranded nucleic acids 10-100 nucleotides in length. Their targets, often with specificity and high affinity, range from ions and small molecules to proteins and other biological molecules as well as larger systems, including cells, tissues, and animals. Aptamers often rival conventional antibodies with improved performance, due to aptamers' unique biophysical and biochemical properties, including small size, synthetic accessibility, facile modification, low production cost, and low immunogenicity...

BACKGROUND: Cranioplasty is a routine neurosurgery treatment used to correct cranial vault abnormalities. Utilization of 3D printing technology in the field of cranioplasty involving the reconstruction of cranial defects emerged as an advanced possibility of anatomical reshaping. The transformative impact of patient-specific 3D printed implants, focuses on their remarkable accuracy, customization capabilities, and enhanced biocompatibility. METHODS: The precise adaptation of implants to patient-specific anatomies, even in complex cases we presented, result in improved aesthetic outcomes and reduced surgical complications...

All people with motor neuron disease (pwMND) in England are eligible for genome sequencing (GS), with panel-based testing. With the advent of genetically targeted MND treatments, and increasing demand for GS, it is important that clinicians have the knowledge and skills to support pwMND in making informed decisions around GS. We undertook an online survey of clinical genomic knowledge and genetic counselling skills in English clinicians who see pwMND. There were 245 respondents to the survey (160 neurology clinicians and 85 genetic clinicians)...

BACKGROUND: Studies indicate that variants of uncertain significance are more common in non-European populations due to lack of a diversity in population databases. This difference has not been explored in epilepsy, which is increasingly found to be genetic in paediatric populations, and has precision medicine applications. This study examines the differences in the frequency of uncertain next-generation sequencing (NGS) results among a paediatric epilepsy cohort between ancestral groups historically under-represented in biomedical research (UBR) and represented in biomedical research (RBR)...

OBJECTIVE: This case report describes a cat with severe erythrocytosis (Hct, 80%), which after initial treatment with hydroxyurea has gone into remission for over 3 years. ANIMAL: A 1-year-old neutered male American Maine Coon crossbred cat. CLINICAL PRESENTATION, PROGRESSION, AND PROCEDURES: A 1-year-old neutered male American Maine Coon crossbred domestic cat was presented with acute neurologic signs, systolic heart murmur, and extreme erythrocytosis (Hct, 80%; normal interval, 30% to 48%)...