Precision medicine neurology

BACKGROUND AND OBJECTIVES: Menopausal hormone therapy (MHT) is generally thought to be neuroprotective, yet results have been inconsistent. Here, we present a comprehensive study of MHT use and brain characteristics in middle-to older aged females from the UK Biobank, assessing detailed MHT data, APOE ε4 genotype, and tissue-specific gray (GM) and white matter (WM) brain age gap (BAG), as well as hippocampal and white matter hyperintensity (WMH) volumes. METHODS: A total of 19,846 females with magnetic resonance imaging data were included (current-users = 1,153, 60...

The Neurological Intensive Care Unit (ICU) at Pitié-Salpêtrière Hospital cares for patients with severe brain injuries, which can lead to acute or chronic disorders of consciousness. To assess the patient's state of consciousness, the team relies on precise clinical examination. This article presents the assessment tools used to establish the patient's prognosis.

Epilepsy is the most common chronic neurological disease, affecting nearly 1%-2% of the world's population. Current pharmacological treatment and regimen adjustments are aimed at controlling seizures; however, they are ineffective in one-third of the patients. Although neuronal hyperexcitability was previously thought to be mainly due to ion channel alterations, current research has revealed other contributing molecular pathways, including processes involved in cellular signaling, energy metabolism, protein synthesis, axon guidance, inflammation, and others...

BACKGROUND: Epilepsy is one of the most common serious chronic neurological disorders, which can have a serious negative impact on individuals, families and society, and even death. With the increasing application of machine learning techniques in medicine in recent years, the integration of machine learning with epilepsy has received close attention, and machine learning has the potential to provide reliable and optimal performance for clinical diagnosis, prediction, and precision medicine in epilepsy through the use of various types of mathematical algorithms, and promises to make better parallel advances...

AIM: To investigate the construct validity of the Baby Observational Selective Control AppRaisal (BabyOSCAR), an assessment of independent joint motion in infants with cerebral palsy (CP). METHOD: BabyOSCAR was scored for 75 infants (45 with CP and 30 without CP). Rasch analysis was used in combination with classical test theory to assess areas of strength or improvement. Overall fit and precision, unidimensionality, local independence, reliability indices, Wright's child-item map, and differential item functioning were examined as part of Rasch analysis to investigate the item properties, internal construct validity, and reliability of BabyOSCAR...

Neurological disorders impose a significant burden on individuals, leading to disabilities and a reduced quality of life. However, recent years have witnessed remarkable advancements in pharmaceutical interventions aimed at treating these disorders. This review article aims to provide an overview of the latest innovations and breakthroughs in neurological disorder treatment, with a specific focus on key therapeutic areas such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, epilepsy, and stroke...

Pathogenic variants in genes encoding ion channels are causal for various pediatric and adult neurological conditions. In particular, several epilepsy syndromes have been identified to be caused by specific channelopathies. These encompass a spectrum from self-limited epilepsies to developmental and epileptic encephalopathies spanning genetic and acquired causes. Several of these channelopathies have exquisite responses to specific antiseizure medications (ASMs), while others ASMs may prove ineffective or even worsen seizures...

AIM: Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non-genetics health-care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network - Westmead (SCHN-W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare-specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests...

The incorporation of sex and gender (S/G) related factors is commonly acknowledged as a necessary step to advance towards more personalized diagnoses and treatments for somatic, psychiatric, and neurological diseases. Until now, most attempts to integrate S/G-related factors have been reduced to identifying average differences between females and males in behavioral/ biological variables. The present commentary questions this traditional approach by highlighting three main sets of limitations: 1) Issues stemming from the use of classic parametric methods to compare means; 2) challenges related to the ability of means to accurately represent the data within groups and differences between groups; 3) mean comparisons impose a results' binarization and a binary theoretical framework that precludes advancing towards precision medicine...

In this editorial, we comment on the article by Marano et al recently published in the World Journal of Gastroenterology 2023; 29 (45): 5945-5952. We focus on the role of gut microbiota (GM) in women's health, highlighting the need to thoroughly comprehend the sex differences in microbiota. Together, the host and GM support the host's health. The microbiota components consist of viruses, bacteria, fungi, and archaea. This complex is an essential part of the host and is involved in neurological development, metabolic control, immune system dynamics, and host dynamic homeostasis...

Accurate assessment of cerebral perfusion is vital for understanding the hemodynamic processes involved in various neurological disorders and guiding clinical decision-making. This guidelines article provides a comprehensive overview of quantitative perfusion imaging of the brain using multi-timepoint arterial spin labeling (ASL), along with recommendations for its acquisition and quantification. A major benefit of acquiring ASL data with multiple label durations and/or post-labeling delays (PLDs) is being able to account for the effect of variable arterial transit time (ATT) on quantitative perfusion values and additionally visualize the spatial pattern of ATT itself, providing valuable clinical insights...

Introduction: A practical solution to the incidental unreliability of intraoperative neuromonitoring (IONM) may be the simultaneous neurophysiological recording and control of the surgical field through a camera (the concept of "Real-time" IONM). During "Real-time" IONM, the surgeon is immediately warned about the possibility of damage to the neural structures during, but not after, standard idiopathic scoliosis (IS) corrective surgery procedures (the concept of "Surgeon-neurophysiologist" interactive, verbal IONM)...

This study aimed to assess the impact of continuous precision nursing on neurobehavioral function and pregnancy outcomes in patients experiencing threatened abortion. A total of 130 patients with early threatened abortion admitted to our hospital between October 2020 and January 2023 were selected and categorized into 2 groups based on intervention methods. The control group received routine nursing intervention, whereas the observation group received continuous precision nursing intervention. Changes in affective status scores, SF-36 scores, knowledge mastery scores, and satisfaction scores in the neurobehavioral function test before and after intervention were recorded in both groups...

No abstract text is available yet for this article.

Blast-induced neurotrauma (BINT) is a pressing concern for veterans and civilians exposed to explosive devices. Affected personnel may have increased risk for long-term cognitive decline and developing tauopathies including Alzheimer's disease-related disorders (ADRD) or frontal-temporal dementia (FTD). The goal of this study was to identify the effect of BINT on molecular networks and their modulation by mutant tau in transgenic (Tg) mice overexpressing the human tau P301L mutation (rTg4510) linked to FTD or non-carriers...

Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions...

The prognosis for patients with out-of-hospital cardiac arrest (OHCA) has been reported to be worse in the cold season. On the other hand, it is unclear whether a similar trend exists in OHCA patients who are treated with extracorporeal cardiopulmonary resuscitation (ECPR). This study was a retrospective multicenter registry study. We examined the association between ECPR and season. We compared the prognosis in four seasonal groups according to the day of occurrence. Multivariable logistic regression analysis was performed for the assessment of clinical and neurological outcomes...

The impact of stroke on the sexual functioning of female survivors can arise from direct neurological effects or be triggered indirectly through various psychophysiological processes. Although an increasing number of publications exist, the topic of sexuality remains seldom discussed in the stroke literature, even though patients have expressed a need for sexual rehabilitation services. A literature review on sexual functioning in post-stroke females examining existing rehabilitation programs addressing patients' sexuality and exploring the perspectives of nurses and caregivers on sexual issues constitutes a novel approach...

AIMS: To describe through emblematic images rare but clinically relevant carotid artery stenting complications that occurred at two high-volume centres for carotid artery stenting (CAS). BACKGROUND: CAS is an alternative to carotid endarterectomy (CEA) for the treatment of carotid artery stenosis in patients judged to be at high risk for CEA. CAS complications range between 1 and 9% and are higher in older patients complaining of neurological symptoms at the time of presentation...

PURPOSE: The evidence regarding the treatment of open retrograde stenting of innominate artery (IA) or common carotid artery stenosis (CCA) is limited, and is suspected to carry a high risk of stroke and death. Therefore, the objective of this study was to evaluate the outcomes of such hybrid procedures. METHODS: A retrospective, monocentric study of all patients who underwent retrograde stenting of proximal IA and CCA stenosis via surgical cutdown of the CCA, with or without concomitant CEA, between 2016 and 2023 was performed...