The evolutionary relationship among Caucasian MS patients and controls

1996 ◽  
Vol 1 (5) ◽  
pp. 288-295 ◽  
Author(s):  
B Kalman ◽  
H Alder ◽  
UF Bosch ◽  
FD Lublin ◽  
D Chatterjee

Previous observations suggest that the mitochondrial (mt)DNA may confer susceptibility to multiple sclerosis (MS). However, the proportion of affected individuals and the range of contributing mtDNA abnormalities are unknown. To help clarify this question, we analyzed the first hypervariable D-loop sequences of the mtDNA in a group of randomly selected Caucasian MS patients, in MS patients with prominent optic neuritis (PON) and in controls. Phylogenetic analysis of these D-loop sequences revealed that individuals in both groups of patients are generally scattered in the Caucasian phylogeny. However, a small cluster of unrelated MS patients identified by this analysis suggests that a maternal lineage with MS relevant mtDNA sequences may exist, and merits a more comprehensive study.

2020 ◽  
Vol 6 (2) ◽  
pp. 74-77
Author(s):  
Mohammad Enayet Hussain ◽  
Bithi Debnath ◽  
AFM Al Masum Khan ◽  
Md Ferdous Mian ◽  
Md Nahidul Islam ◽  
...  

Background: The visual evoked potentials (VEP) is a valuable tool to document occult lesions of the central visual channels especially within the optic nerve. Objectives: The purpose of the present study was to observe the findings of first few cases of VEP done in the neurophysiology department of the National Institute of Neurosciences (NINS), Dhaka, Bangladesh. Methodology: This cross-sectional study was conducted in the Department of Neurophysiology at the National Institute of Neurosciences and Hospital, Dhaka, Bangladesh from September 2017 to March 2020. All patients referred to the Neurophysiology Department of NINS for VEP were included. Pattern reversal VEPs were done using standard protocol set by International Federation of Clinical Neurophysiology (IFCN). Results: The mean age of the study population was 30.70 (±12.11) years (6-68 years) with 31 (46.3%) male and 36 (53.7%) female patients. The mean duration of illness was 8.71 (±1.78) months (3 days- 120 months). Most common presenting symptom was blurring of vision (37.3%) and dimness of vision (32.8%). Patterned VEP revealed mixed type (both demyelinating and axonal) of abnormality in most cases [29(43.35)]. The most common clinical diagnosis was multiple sclerosis (29.85%) and optic neuropathy (26.87%). In the clinically suspected cases of multiple sclerosis, optic neuropathy and optic neuritis most of the cases of VEP were abnormal and the p value is 0.04 in optic neuropathy and optic neuritis. Conclusion: The commonest presentation of the patients in this series were blurring of vision and dimness of vision. The most common clinical diagnosis for which VEP was asked for, was optic neuritis and multiple sclerosis. Most abnormalities were of mixed pattern (demyelinating and axonal). Journal of National Institute of Neurosciences Bangladesh, 2020;6(2): 74-77


2018 ◽  
pp. 112-115 ◽  
Author(s):  
E.K. Eliseeva ◽  
◽  
V.V. Neroev ◽  
M.V. Zueva ◽  
I.V. Tsapenko ◽  
...  

2021 ◽  
Vol 14 ◽  
pp. 175628642110200
Author(s):  
Judit Gili-Kovács ◽  
Robert Hoepner ◽  
Anke Salmen ◽  
Maud Bagnoud ◽  
Ralf Gold ◽  
...  

Background: Glucocorticoid (GC) pulse therapy is used for multiple sclerosis (MS) relapse treatment; however, GC resistance is a common problem. Considering that GC dosing is individual with several response-influencing factors, establishing a predictive model, which supports clinicians to estimate the maximum GC dose above which no additional therapeutic value can be expected presents a huge clinical need. Method: We established two, independent retrospective cohorts of MS patients. The first was an explorative cohort for model generation, while the second was established for its validation. Using the explorative cohort, a multivariate regression analysis with the GC dose used as the dependent variable and serum vitamin D (25D) concentration, sex, age, EDSS, contrast enhancement on cranial magnetic resonance imaging (MRI), immune therapy, and the involvement of the optic nerve as independent variables was established. Results: In the explorative cohort, 113 MS patients were included. 25-hydroxyvitamin D (25D) serum concentration and the presence of optic neuritis were independent predictors of the GC dose needed to treat MS relapses [(25D): −25.95 (95% confidence interval (CI)): −47.40 to −4.49; p = 0.018; optic neuritis: 2040.51 (95% CI: 584.64–3496.36), p = 0.006]. Validation of the multivariate linear regression model was performed within a second cohort. Here, the predicted GC dose did not differ significantly from the dose administered in clinical routine (mean difference: −843.54; 95% CI: −2078.08–391.00; n = 30, p = 0.173). Conclusion: Our model could predict the GC dose given in clinical, routine MS relapse care, above which clinicians estimate no further benefit. Further studies should validate and improve our algorithm to help the implementation of predictive models in GC dosing.


2021 ◽  
Vol 14 ◽  
pp. 175628642110034
Author(s):  
Caspar B. Seitz ◽  
Falk Steffen ◽  
Muthuraman Muthuraman ◽  
Timo Uphaus ◽  
Julia Krämer ◽  
...  

Background: Serum neurofilament light chain (sNfL) and distinct intra-retinal layers are both promising biomarkers of neuro-axonal injury in multiple sclerosis (MS). We aimed to unravel the association of both markers in early MS, having identified that neurofilament has a distinct immunohistochemical expression pattern among intra-retinal layers. Methods: Three-dimensional (3D) spectral domain macular optical coherence tomography scans and sNfL levels were investigated in 156 early MS patients (female/male: 109/47, mean age: 33.3 ± 9.5 years, mean disease duration: 2.0 ± 3.3 years). Out of the whole cohort, 110 patients had no history of optic neuritis (NHON) and 46 patients had a previous history of optic neuritis (HON). In addition, a subgroup of patients ( n = 38) was studied longitudinally over 2 years. Support vector machine analysis was applied to test a regression model for significant changes. Results: In our cohort, HON patients had a thinner outer plexiform layer (OPL) volume compared to NHON patients ( B = −0.016, SE = 0.006, p = 0.013). Higher sNfL levels were significantly associated with thinner OPL volumes in HON patients ( B = −6.734, SE = 2.514, p = 0.011). This finding was corroborated in the longitudinal subanalysis by the association of higher sNfL levels with OPL atrophy ( B = 5.974, SE = 2.420, p = 0.019). sNfL levels were 75.7% accurate at predicting OPL volume in the supervised machine learning. Conclusions: In summary, sNfL levels were a good predictor of future outer retinal thinning in MS. Changes within the neurofilament-rich OPL could be considered as an additional retinal marker linked to MS neurodegeneration.


Mammalia ◽  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Daniela Arenas-Viveros ◽  
Pamela Sánchez-Vendizú ◽  
Alan Giraldo ◽  
Jorge Salazar-Bravo

Abstract The systematics and taxonomy of the broadly distributed bats of the genus Cynomops has changed considerably in the last few years. Among the major changes, Cynomops abrasus was split into two species of large-bodied forms (Cynomops mastivus and C. abrasus) distributed east of the Andes. However, large Colombian specimens identified as C. abrasus from the western side of the Andes had yet to be included in any revisionary work. Phylogenetic analysis performed in this study, using mtDNA sequences (Cytochrome-b), revealed that these Colombian individuals are more closely related to Cynomops greenhalli. Morphological and molecular data allowed us to recognize populations from western Colombia, western Ecuador and northwestern Peru, as members of a new species of Cynomops. Characters that allow for its differentiation from C. greenhalli include a larger forearm, paler but more uniform ventral pelage, more globular braincase, and well-developed zygomatic processes of the maxilla (almost reaching the postorbital constriction). This study serves as another example of the importance of including multiple lines of evidence in the recognition of a new species. Given its rarity and the advanced transformation of its habitat, this new species is particularly important from a conservation perspective.


2014 ◽  
Vol 76 (11) ◽  
pp. 1451-1456 ◽  
Author(s):  
Masaki TAKASU ◽  
Namiko ISHIHARA ◽  
Teruaki TOZAKI ◽  
Hironaga KAKOI ◽  
Masami MAEDA ◽  
...  

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