Over the last decades, the importance of cerebellar processing for cortical functions has been acknowledged and consensus was reached on the strict functional and structural cortico-cerebellar interrelations. From an anatomical point of view strictly contralateral interconnections link the cerebellum to the cerebral cortex mainly through the middle and superior cerebellar peduncle. Diffusion MRI (dMRI) based tractography has already been applied to address cortico-cerebellar-cortical loops in healthy subjects and to detect diffusivity alteration patterns in patients with neurodegenerative pathologies of the cerebellum. In the present study we used dMRI-based tractography to determine the degree and pattern of pathological changes of cerebellar white matter microstructure in patients with focal cerebellar lesions. Diffusion imaging and high-resolution volumes were obtained in patients with left cerebellar lesions and in normal controls. Middle cerebellar peduncles and superior cerebellar peduncles were reconstructed by multi fiber diffusion tractography. From each tract, measures of microscopic damage were assessed, and despite the presence of unilateral lesions, bilateral diffusivity differences in white matter tracts were found comparing patients with normal controls. Consistently, bilateral alterations were also evidenced in specific brain regions linked to the cerebellum and involved in higher-level functions. This could be in line with the evidence that in the presence of unilateral cerebellar lesions, different cognitive functions can be affected and they are not strictly linked to the side of the cerebellar lesion.
Several causative gene mutations have been identified in frontotemporal lobar degeneration (FTLD), including mutations within Granulin (GRN) genes. It was recently shown that FTLD patients carriers of GRN Thr272fs mutation [FTLD-GRN(m+)] exhibit more severe abnormalities, as assessed by magnetic resonance imaging (MRI), than those with sporadic FTLD [FTLD-GRN(m-)]. The aim of this study was to investigate the relationship between grey (GM) and white matter (WM) microstructural damage in FTLD patients, carriers and non-carriers of the mutation. Twenty-three FTLD patients [6 GRN(m+) and 17 GRN(m-)] and 12 healthy subjects received an MRI scan including volumetric and diffusion imaging. GM was assessed using voxel-based morphometry, while the corpus callosum was reconstructed using diffusion tractography. Mean diffusivity and fractional anisotropy of the corpus callosum were compared between groups. FTLD patients showed widespread GM atrophy and altered diffusion indices in the corpus callosum when compared to healthy subjects. When contrasting GRN(m+) against GRN(m-) patients, the former group had more atrophy in the left frontal GM, and reduced fractional anisotropy and increased mean diffusivity in the left anterior part of the corpus callosum. Significant correlations between the GM and WM damage were found in GRN(m+) patients. This pattern of damage was able to predict some of the additional neuropsychological deficits observed in GRN(m+) as compared to GRN(m-) patients. A more prominent involvement of WM in GRN(m+) patients is consistent with the knowledge that GRN genes are expressed in the microglia. This involvement might be responsible for the accrual of additional GM atrophy via disconnection mechanisms.
Introduction and hypothesis During the COVID-19 pandemic, many surgical societies released guidelines that included cancellation of elective cases. The aim of this study was to better understand our patients’ perceptions of the severity of their pelvic floor disorders (PFDs) and to determine what factors influenced this perception. We also aimed to better understand who might be amenable to telemedicine visits and what factors influenced this decision. Methods This is a cross-sectional quality improvement study that included women at least 18 years of age diagnosed with a pelvic floor disorder being evaluated within a university Female Pelvic Medicine and Reconstructive Surgery clinic during the COVID-19 pandemic. Patients whose appointments and procedures were being cancelled were queried on whether they would be willing to answer a telephone questionnaire developed by the clinical and research teams. We gathered descriptive data from 97 female patients with PFDs using a primary phone questionnaire. The data were analyzed using proportions and descriptive statistics. Results Of the 97 patients, the majority (79%) viewed their conditions as non-urgent. Factors that influenced patients’ perception of urgency included race ( p =0.037), health status ( p ≤0.001), a history of diabetes ( p =0.011), and willingness to attend an in-person appointment ( p =0.010). Further, 52% of respondents were willing to attend a tele-health appointment. Statistically significant factors influencing this decision were ethnicity ( p =0.019), marital status ( p =0.019), and willingness to attend an in-person appointment ( p =0.011). Conclusion The majority of women did not view their conditions as urgent during the COVID-19 pandemic and were amenable to a telehealth appointment.
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