Human Studies

Multiple sclerosis (MS) presents a high prevalence, a marked increase worldwide, and a relevant impact on patients, public health, and society. Anxiety often cooccurs with MS and can contribute to the worsening of MS symptoms. However, knowledge about predictors of anxiety in Patients with MS (PwMS) is scarce.

Migraine is a type of headache with multiple neurological symptoms. Prior neuroimaging studies in patients with migraine based on functional magnetic resonance imaging have found regional as well as network-level alterations in brain function. Here, we expand on prior studies by establishing whole-brain functional connectivity patterns in patients with migraine using dimensionality reduction techniques. We studied functional brain connectivity in 50 patients with episodic migraine and sex- and age-matched healthy controls. Using dimensionality reduction techniques that project high-dimensional functional connectivity onto low-dimensional representations (i.e., eigenvectors), we found significant between-group differences in the eigenvectors between patients with migraine and healthy controls, particularly in the sensory/motor and limbic cortices. Furthermore, we assessed between-group differences in subcortical connectivity with subcortical weighted manifolds defined by subcortico-cortical connectivity multiplied by cortical eigenvectors and revealed significant alterations in the amygdala. Finally, leveraging supervised machine learning, we moderately predicted headache frequency using cortical and subcortical functional connectivity features, again indicating that sensory and limbic regions play a particularly important role in predicting migraine frequency. Our study confirmed that migraine is a hierarchical disease of the brain that shows alterations along the sensory-limbic axis, and therefore, the functional connectivity in these areas could be a useful marker to investigate migraine symptomatology.

Here, we describe the development and pilot study of a personalized eHealth intervention containing a pain science education program and self-management support strategies regarding pain and pain-related functioning in female survivors of breast cancer. First, we aimed to evaluate the eHealth intervention's acceptability, comprehensibility, and satisfaction; second, we aimed to assess its preliminary efficacy.

Many migraine patients do not respond adequately to conventional preventive treatments and are therefore described as treatment/medically resistant or difficult to treat cases. Calcitonin gene-related peptide monoclonal antibodies are a relatively novel molecular treatment for episodic and chronic migraine that have been shown to be effective in short duration clinical trials in approximately 40-50% of all chronic migraine patients. Patient Related Outcome Measures (PROM) or Quality of Life (QoL) questionnaires are used to help measure response to treatment in migraine. Although some open label extension studies have become available for erenumab, there is a lack of real-world data pertaining to quality of life in the medium to long-term for chronic and treatment resistant migraine patients.

While new genetic analysis methods are widely used in the clinic, few researchers have focused on trigeminal neuralgia (TN) with familial clustering (≥ 2 TN patients in one kindred family). Previous literature suggests that familial trigeminal neuralgia (FTN) may be associated with inherited genetic factors. To date, few next-generation sequencing studies have been reported for FTN. This study investigated the pathogenic mechanism of FTN by using whole-exome sequencing (WES) technology, which may enhance our understanding of human TN pathophysiology.  METHOD: We performed WES for 7 probands from families of FTN. Sanger sequencing was performed for two control groups (FTN family members group and nonfamilial TN subject group) to potentially identify new FTN-related gene mutations. In families where FTN probands carried potentially pathogenic gene mutations, the ribonucleic acid (RNA) of FTN probands and related family members, as well as nonfamilial TN patients were analysed by RNA sequencing (RNA-seq) to confirm differential gene expression.

We evaluated how pain processing and situational pain catastrophizing differed between two music interventions (Unwind and favorite music) and a control condition (white noise). Healthy adults (n=70) completed quantitative sensory testing (QST) measuring pressure pain threshold (PPTh) and tolerance (PPTol), heat pain threshold (HPTh), offset analgesia (OA), temporal summation of pain (TSP), and conditioned pain modulation (CPM). Participants completed three QST rounds with the presence of white noise (control condition), a relaxing music app (Unwind), and their favorite music, which were presented in a randomized order. The Situational Pain Catastrophizing Scale was completed after each round. Friedman tests and post-hoc Wilcoxon signed-rank tests were used to compare pain processing and catastrophizing across the three conditions. Participants' PPTh, PPTol, and HPTh were significantly higher during the favorite music condition compared to the other two conditions, indicating lower pain sensitivity when listening to favorite music. In contrast, OA was lower in the favorite music condition. Although TSP and CPM were induced by the QST paradigm, these did not differ across the three conditions. Situational pain catastrophizing was also significantly lower during the favorite music condition. Several measures of pain sensitivity and situational pain catastrophizing were lower when listening to favorite music compared to relaxing music or white noise. More research is necessary to determine the mechanism(s) by which music modulates pain processing.

Although the painful and disabling features of early diffuse cutaneous systemic sclerosis (dcSSc) have an inflammatory basis and could respond to corticosteroids, corticosteroids are a risk factor for scleroderma renal crisis. Whether or not they should be prescribed is therefore highly contentious. Our aim was to examine safety and efficacy of moderate dose prednisolone in early dcSSc.

Management of prescription medicines is challenging for older patients due to frail health and the prevalence of multiple chronic conditions. A salient policy challenge of prescribing practices is that all physicians are not well informed about the national clinical guidelines. A feasible policy intervention to mitigate the harms caused by Potentially Inappropriate Medications is to influence the frequency of prescribing and other prescribing attributes of the drugs by providing accurate and up-to-date information about the national clinical guidelines.