In this study, we present the first experimental determination of the spin state of transition metal complexes by using Hirshfeld Atom Refinement. For the demonstration, the two iron(II) complexes, (NH)Fe(SO) ⋅ 6 HO and lFe(pic)jCl ⋅ EtOH were investigated. The method involves the refinement using wavefunctions of different spin multiplicity and comparison against experimental diffraction data by means of refinement indicators and residual electron density.
View Article and Find Full Text PDFIntroduction: Migraine symptoms are postulated to improve post-stroke. We aimed to determine post-stroke changes in patients with active migraine pre-stroke and explored the relation with stroke location and stroke-preventive medication use.
Methods: Patients with active migraine who had an ischemic stroke were retrieved from three research-cohorts between 2014 and 2021.
Background: Neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) have emerged as biomarkers for cerebral small vessel disease (SVD). We investigated their role in a hereditary SVD model, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Methods: NfL and GFAP levels of 17 pre-symptomatic, 22 symptomatic RVCL-S mutation carriers and 69 controls were measured using a Simoa assay.
Objective: This study aimed to compare cerebrovascular reactivity between patients with migraine and controls using state-of-the-art magnetic resonance imaging (MRI) techniques.
Background: Migraine is associated with an increased risk of cerebrovascular disease, but the underlying mechanisms are still not fully understood. Impaired cerebrovascular reactivity has been proposed as a link.
Background: This narrative review aims to discuss several common neurological and psychiatric disorders that show comorbidity with migraine. Not only can we gain pathophysiological insights by studying these disorders, comorbidities also have important implications for treating migraine patients in clinical practice.
Methods: A literature search on PubMed and Embase was conducted with the keywords "comorbidity", "migraine disorders", "migraine with aura", "migraine without aura", "depression", "depressive disorders", "epilepsy", "stroke", "patent foramen ovale", "sleep wake disorders", "restless legs syndrome", "genetics", "therapeutics".
Hemiplegic migraine (HM) is a rare subtype of migraine with aura. Given that causal missense mutations in the voltage-gated calcium channel α1A subunit gene CACNA1A have been identified in a subset of HM patients, we investigated whether HM patients without a mutation have an increased burden of such variants in the "CACNA1x gene family". Whole exome sequencing data of an Australian cohort of unrelated HM patients (n = 184), along with public data from gnomAD, as controls, was used to assess the burden of missense variants in CACNA1x genes.
View Article and Find Full Text PDFMigraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are previously unknown. These loci provide an opportunity to evaluate shared and distinct genetic components in the two main migraine subtypes: migraine with aura and migraine without aura.
View Article and Find Full Text PDFAJNR Am J Neuroradiol
September 2021
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is caused by mutations. High-quality systematic follow-up neuroimaging findings have not been described in presymptomatic and symptomatic mutation carriers. We present MR imaging findings of 29 mutation carriers (20-65 years of age) and follow-up of 17 mutation carriers (30-65 years of age).
View Article and Find Full Text PDFRetinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S) is a small vessel disease caused by mutations. RVCL-S is characterized by retinal vasculopathy and brain white matter lesions with and without contrast enhancement. We aimed to investigate cerebrovascular reactivity (CVR) in RVCL-S.
View Article and Find Full Text PDFObjective: The main objective of this study was to compare cerebrospinal fluid (CSF) collection time and patient's discomfort between 20G (a)traumatic and 22G atraumatic needles.
Background: Risk of post-dural puncture headache (PDPH) is decreased using atraumatic needles. Smaller needles may give lower risk but possibly at the cost of increased CSF collection time (due to lower flow), leading to additional patient's discomfort.
Background: Even though clozapine is the recommended last-resort antipsychotic, many patients fail to respond and show treatment-refractory psychotic symptoms. Smoking has been suggested as a possible risk factor for poor clozapine response, hampering remission and negatively impacting somatic outcomes.
Methods: Our aim was to test whether smoking status is associated with remission rates and other symptomatic and somatic outcomes.
We present a successful treatment, with tigecycline monotherapy, of acute prostatitis caused by multidrug-resistant harboring an NDM-1 carbapemenase along with a CMY-2 cephalosporinase and a TEM ESBL.
View Article and Find Full Text PDFBackground: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated.
View Article and Find Full Text PDFBackground: Migraine is a complex genetic disorder that is brought about by multiple genetic and environmental factors. We aimed to assess whether migraine frequency is associated with genetic susceptibility.
Methods: We investigated in 2829 migraine patients (14% males) whether 'migraine frequency' (measured as the number of migraine days per month) was related to 'genetic load' (measured as the number of parents affected with migraine) using a validated web-based questionnaire.
Objective: To investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in , , or differ, and whether the disease may be caused by mutations in other genes.
Methods: We compared the clinical characteristics of 208 patients with familial (n = 199) or sporadic (n = 9) hemiplegic migraine due to a mutation in , , or with those of 73 patients with familial (n = 49) or sporadic (n = 24) hemiplegic migraine without a mutation in these genes. In addition, 47 patients (familial: n = 33; sporadic: n = 14) without mutations in , , or were scanned for mutations in novel genes using whole exome sequencing.
Background And Purpose: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a monogenic small vessel disease, caused by C-terminal truncating mutations, that can be considered a model for stroke and vascular dementia. The pathophysiology of RVCL-S is largely unknown, but systemic endothelial involvement has been suggested, leading to pathology in the brain and other highly vascularized organs. Here, we investigated circulating endothelial markers to confirm endothelial involvement and identify biomarkers for disease activity.
View Article and Find Full Text PDFBackground Patients with hemiplegic migraine (HM) may sometimes develop progressive neurological deterioration of which the pathophysiology is unknown. Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years.
View Article and Find Full Text PDFObjectives: Migraine is a suggested risk factor for aneurysmal subarachnoid hemorrhage (aSAH). An increased risk of aSAH in migraineurs may be explained by an increased prevalence of unruptured intracranial aneurysms (UIA). We performed a case-control study to compare lifetime migraine prevalence in patients with UIA, patients with a history of transient ischemic attact (TIA) or ischemic stroke and controls without a history of aSAH, TIA or ischemic stroke.
View Article and Find Full Text PDFType I interferons (IFNs) are essential mediators of antiviral responses. These cytokines have been implicated in the pathogenesis of autoimmunity, most notably systemic lupus erythematosus (SLE), diabetes mellitus, and dermatomyositis, as well as monogenic type I interferonopathies. Despite a fundamental role in health and disease, the direct quantification of type I IFNs has been challenging.
View Article and Find Full Text PDFCluster headache is a relatively rare headache disorder, typically characterized by multiple daily, short-lasting attacks of excruciating, unilateral (peri-)orbital or temporal pain associated with autonomic symptoms and restlessness. To better understand the pathophysiology of cluster headache, we used RNA sequencing to identify differentially expressed genes and pathways in whole blood of patients with episodic (n = 19) or chronic (n = 20) cluster headache in comparison with headache-free controls (n = 20). Gene expression data were analysed by gene and by module of co-expressed genes with particular attention to previously implicated disease pathways including hypocretin dysregulation.
View Article and Find Full Text PDFBackground: To investigate the connection between migraine and stroke, a reliable screening tool to gather information about a person's migraine history is crucial. We studied the test-characteristics of a 5-question Migraine Screener for Stroke (MISS).
Methods: We included a random sample of patients with a transient ischemic attack or stroke who answered the MISS questionnaire when they were admitted to our hospital.
Objective: To determine the prevalence of depression and determinants associated with depression in a large population of hemiplegic migraine (HM) patients.
Methods: We conducted a cross-sectional, validated questionnaire study among 89 well-defined HM patients and 235 headache-free controls. The prevalence of lifetime depression and its relation to migraine characteristics was assessed.
Background: Increasing focus has been placed on the use of simulation in neurosurgical and spinal surgical training worldwide, with the establishment of many surgical laboratories dedicated to such purpose. So far, the opportunities for hands-on cadaveric training in the areas of neurosurgery and spine surgery remain limited in Australia, owing to various factors, including the abolition of dissection in many medical schools, high maintenance requirements and widespread geographical distribution of surgical trainees.
Methods: We established a cadaver-based neurosurgical laboratory based at the medical school of the University of New England in Armidale, Australia, which is used by the surgical dissection course for junior surgical trainees offered by the university.