OBJECTIVE: To identify and describe nursing practices on the sexual health of people with neurological disorders.
METHODS: Narrative review.
METHODS: Data were extracted from 1 January 2002, to 20 May 2021. Inclusion criteria were nursing practices, sexual health and people with neurological disorders. The main outcome measures were: context of nursing practice implementation (assumptions, knowledge, strategies and skills), facilitators of and barriers to addressing and treating the sexual health of people with neurological disorders, and benefits of nursing practices in sexual health. PRISMA reporting guidelines were used.
METHODS: PubMed, Embase, ScienceDirect and CINAHL.
RESULTS: In total, 926 articles were identified and nine were included. The involvement of nurses was recommended in most studies. Assumptions about the impact of neurology on sexuality and nurse\'s role in sexual healthcare, biopsychosocial knowledge, and skills (ethical, interpersonal, and technical) were highlighted. We found that the modes of knowledge proposed by Carper were mobilized in an unequal way. Sexual difficulties were the key focus and eroticization concerns were not addressed in any of the articles.
CONCLUSIONS: Several studies advocate nursing intervention; however, few accurately present, detail and evaluate sexual health nursing practices of patients with neurological pathologies. Literature describes practices structured around disorders rather than the potentials, fails to address the brake of eroticism and provides little information on the results of interventions.
UNASSIGNED: Developing teaching programs on sexual health in nursing programs may be necessary if nurses are to support a diverse range of patients in an inclusive and positive manner. These programs should highlight the domain-specific knowledge that is mobilized.
CONCLUSIONS: Sexual health is a fundamental human right. Alterations in the nervous system have shown to affect sexual health, however, it is not often discussed among patients with neurological disorders, who are rarely provided with sexual health counselling. Our findings may impact healthcare professionals engaged in care with these patients.
UNASSIGNED: PRISMA. No patient or public contribution.

Genetic workup is becoming increasingly common in the clinical assessment of neurological disorders. We evaluated its yield among middle-aged and elderly neurological patients, in a real-world context. This retrospective study included 368 consecutive Israeli patients aged 50 years and older (202 [54.9%] males), who were referred to a single neurogenetics clinic between 2017 and mid-2023. All had neurological disorders, without a previous molecular diagnosis. Demographic, clinical and genetic data were collected from medical records. The mean age at first genetic counseling at the clinic was 62.3 ± 7.8 years (range 50-85 years), and the main indications for referral were neuromuscular, movement and cerebrovascular disorders, as well as cognitive impairment and dementia. Out of the 368 patients, 245 (66.6%) underwent genetic testing that included exome sequencing (ES), analysis of nucleotide repeat expansions, detection of specific mutations, targeted gene panel sequencing or chromosomal microarray analysis. Overall, 80 patients (21.7%) received a molecular diagnosis due to 36 conditions, accounting for 32.7% of the patients who performed genetic testing. The diagnostic rates were highest for neuromuscular (58/186 patients [31.2%] in this group, 39.2% of 148 tested individuals) and movement disorders (14/79 [17.7%] patients, 29.2% of 48 tested), but lower for other disorders. Testing of nucleotide repeat expansions and ES provided a diagnosis to 28/73 (38.4%) and 19/132 (14.4%) individuals, respectively. Based on our findings, genetic workup and testing are useful in the diagnostic process of neurological patients aged ≥50 years, in particular for those with neuromuscular and movement disorders.

BACKGROUND: Seizures are common reasons to call an ambulance, and this study aims to analyze the burden of seizures in the prehospital setting based on incidence, hospital admission rate, and costs.
METHODS: This was a population-based, cross-sectional analysis of prehospital emergency medical services (EMS) data on suspected seizure cases from the federal state of Hesse, Germany, in 2019.
RESULTS: A total of 6534 suspected seizure cases were identified, of which most were those with a known seizure disorder. Incidence rate for epilepsy-related seizures (ES; pediatric epilepsy, first seizure [1stS], seizure with known seizure disorder [SEPI]) was 205.7 per 100,000 inhabitants and incidence rate for pediatric febrile seizures (PFS) was 36.7 per 100,000 inhabitants, corresponding to 171,275 ES and 28,500 PFS (99.3% < 18 years) cases in Germany. A prehospital EMS physician was involved in 40.0% (SEPI) to 54.4% (PFS) of suspected seizure cases. Depending on the type of seizure, 70.7% (SEPI) to 80.9% (1stS) were admitted to hospital for inpatient stay of ≥ 24 h. An additional 4% (PFS) to 16% (1stS) of cases needed immediate intervention at hospital. Prehospital EMS staff needed 8:24 min:s (SD 7:24; n = 5004) after the emergency call to arrive at the scene of the ES and 10:58 min:s (SD 27:39; n = 321) for PFS. ES and PFS cases caused estimated costs of 48.5 and 8.1 million euros for Germany in 2019, respectively, not including hospital treatment-related costs.
CONCLUSIONS: This study identified a high number of suspected seizure-related emergency cases and proportion of patients admitted to hospitals, as well as high associated costs in Germany.

UNASSIGNED: Neurological disorders constitute major causes of morbidity, and globally, they are the leading causes of death. There is a dearth of neurologists in most African countries and the very few available ones are concentrated in urban areas. The cardiovascular and communicable risk factors responsible for most cases of acute and chronic neurological disorders are also prevalent in rural areas. Although patients from the neighbouring states attend the study centre, the majority are indigent. Therefore, there is a need to observe the pattern of these disorders in Ekiti, to appreciate the disease burden as it would help in the judicious allocation of human and other healthcare resources.
UNASSIGNED: We reviewed the case files of patients seen at the neurology clinic and admitted via the emergency department into the Federal Teaching Hospital, Ido-Ekiti, over a period of 6 years (2016 to 2021).
UNASSIGNED: A total of 881patients were seen during the study period, and they were mostly elderly male patients with chronic disorders in which stroke was the most common neurological disorder (44.9%) followed by seizure disorder (13.1%), and neurodegenerative disorders (9.9%). Tumors and myopathies were the least seen disorders.
UNASSIGNED: Health literacy on cardiovascular risk factors and even the distribution of manpower and material resources will help reduce the burden of neurological disorders among the attendees of the Ekiti tertiary health institution.

Mitochondria-related neurodegenerative diseases have been implicated in the disruption of primary cilia function. Mutation in an intrinsic mitochondrial complex I component NDUFAF2 has been identified in Leigh syndrome, a severe inherited mitochondriopathy. Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome, a ciliopathy with defects in the brain, kidney, and eye. Here, we report a mechanistic link between mitochondria metabolism and primary cilia signaling. We discovered that loss of NDUFAF2 caused both mitochondrial and ciliary defects in vitro and in vivo and identified NDUFAF2 as a binding partner for ARMC9. We also found that NDUFAF2 was both necessary and sufficient for cilia formation and that exogenous expression of NDUFAF2 rescued the ciliary and mitochondrial defects observed in cells from patients with known ARMC9 deficiency. NAD+ supplementation restored mitochondrial and ciliary dysfunction in ARMC9-deficient cells and zebrafish and ameliorated the ocular motility and motor deficits of a patient with ARMC9 deficiency. The present results provide a compelling mechanistic link, supported by evidence from human studies, between primary cilia and mitochondrial signaling. Importantly, our findings have significant implications for the development of therapeutic approaches targeting ciliopathies.

Recent studies have highlighted the essential role of RNA splicing, a key mechanism of alternative RNA processing, in establishing connections between genetic variations and disease. Genetic loci influencing RNA splicing variations show considerable influence on complex traits, possibly surpassing those affecting total gene expression. Dysregulated RNA splicing has emerged as a major potential contributor to neurological and psychiatric disorders, likely due to the exceptionally high prevalence of alternatively spliced genes in the human brain. Nevertheless, establishing direct associations between genetically altered splicing and complex traits has remained an enduring challenge. We introduce Spliced-Transcriptome-Wide Associations (SpliTWAS) to integrate alternative splicing information with genome-wide association studies to pinpoint genes linked to traits through exon splicing events. We applied SpliTWAS to two schizophrenia (SCZ) RNA-sequencing datasets, BrainGVEX and CommonMind, revealing 137 and 88 trait-associated exons (in 84 and 67 genes), respectively. Enriched biological functions in the associated gene sets converged on neuronal function and development, immune cell activation, and cellular transport, which are highly relevant to SCZ. SpliTWAS variants impacted RNA-binding protein binding sites, revealing potential disruption of RNA-protein interactions affecting splicing. We extended the probabilistic fine-mapping method FOCUS to the exon level, identifying 36 genes and 48 exons as putatively causal for SCZ. We highlight VPS45 and APOPT1, where splicing of specific exons was associated with disease risk, eluding detection by conventional gene expression analysis. Collectively, this study supports the substantial role of alternative splicing in shaping the genetic basis of SCZ, providing a valuable approach for future investigations in this area.

Neurological and neuropsychiatric disorders pose substantial challenges to public health, necessitating a comprehensive understanding of the molecular mechanisms underlying their pathogenesis. In recent years, the focus has shifted toward the intricate world of non-coding RNAs (ncRNAs), a class of RNA molecules that do not encode proteins but play pivotal roles in gene regulation and cellular processes. This review explores the emerging significance of ncRNAs in the context of neurological and neuropsychiatric disorders, shedding light on their diverse functions and regulatory mechanisms. The dysregulation of various ncRNAs, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), has been implicated in the pathophysiology of conditions such as Alzheimer\'s disease, Parkinson\'s disease, schizophrenia, and mood disorders. This review delves into the specific roles these ncRNAs play in modulating key cellular processes, including synaptic plasticity, neuroinflammation, and apoptosis, providing a nuanced understanding of their impact on disease progression. Furthermore, it discusses the potential diagnostic and therapeutic implications of targeting ncRNAs in neurological and neuropsychiatric disorders. The identification of specific ncRNA signatures holds promise for the development of novel biomarkers for early disease detection, while the manipulation of ncRNA expression offers innovative therapeutic avenues. Challenges and future directions in the field are also considered, highlighting the need for continued research to unravel the complexities of ncRNA-mediated regulatory networks in the context of neurological and neuropsychiatric disorders. This review aims to provide a comprehensive overview of the current state of knowledge and stimulate further exploration into the fascinating realm of ncRNAs in the brain\'s intricate landscape.

Neurological disorders are a heterogeneous group of central or peripheral nervous disorders of which the main symptoms include impaired walking and balance. One of the main interventions for neurological disorders is the use of assistive devices, and it is necessary to consider the psychosocial effects of these devices on users. The psychometric properties of the Persian version of the Psychosocial Impact of Assistive Devices Scale (PIADS) were evaluated in patients with neurological disorders. After translating the scale into Persian based on IQULA, face and content validity were determined. The divergent validity of the scale was examined through its relationship with the Orthotics and Prosthetics Users\' Survey (OPUS). Reliability of the tool was evaluated using an internal consistency and test-retest method over two weeks with 50 patients with neurological disorders and a history of using assistive devices for at least six months. The face and content validity of the PIADS was confirmed. The ICC for all subscales was higher than 0.78, which indicates a good correlation. However, the divergent validity of the scale with the OPUS scale was not confirmed. The Persian version of PIADS is a valid and reliable measure for patients with neurological disorders in Iran.

Extracellular vesicles (EVs) are considered a vital component of cell-to-cell communication and represent a new frontier in diagnostics and a means to identify pathways for therapeutic intervention. Recently, studies have revealed the importance of tissue-derived EVs (Ti-EVs), which are EVs present in the interstitial spaces between cells, as they better represent the underlying physiology of complex, multicellular tissue microenvironments in biology and disease. EVs are native, lipid bilayer membraned nano-sized particles produced by all cells that are packaged with varied functional biomolecules including proteins, lipids, and nucleic acids. They are implicated in short- and long-range cellular communication and may elicit functional responses in recipient cells. To date, studies have often utilized cultured cells or biological fluids as a source for EVs that do not capture local molecular signatures of the tissue microenvironment. Recent work utilizing Ti-EVs has elucidated novel biomarkers for disease and provided insights into disease mechanisms that may lead to the development of novel therapeutic agents. Still, there are considerable challenges facing current studies. This review explores the vast potential and unique challenges for Ti-EV research and provides considerations for future studies that seek to advance this exciting field.

Prompt learning has demonstrated impressive efficacy in the fine-tuning of multimodal large models to a wide range of downstream tasks. Nonetheless, applying existing prompt learning methods for the diagnosis of neurological disorder still suffers from two issues: (i) existing methods typically treat all patches equally, despite the fact that only a small number of patches in neuroimaging are relevant to the disease, and (ii) they ignore the structural information inherent in the brain connection network which is crucial for understanding and diagnosing neurological disorders. To tackle these issues, we introduce a novel prompt learning model by learning graph prompts during the fine-tuning process of multimodal models for diagnosing neurological disorders. Specifically, we first leverage GPT-4 to obtain relevant disease concepts and compute semantic similarity between these concepts and all patches. Secondly, we reduce the weight of irrelevant patches according to the semantic similarity between each patch and disease-related concepts. Moreover, we construct a graph among tokens based on these concepts and employ a graph convolutional network layer to extract the structural information of the graph, which is used to prompt the pre-trained multimodal models for diagnosing neurological disorders. Extensive experiments demonstrate that our method achieves superior performance for neurological disorder diagnosis compared with state-of-the-art methods and validated by clinicians.