Subcortical structural abnormalities in juvenile myoclonic epilepsy (JME): MR volumetry and vertex based analysis

AbstractPurposeImaging studies in juvenile myoclonic epilepsy (JME) have shown abnormalities of the thalamus and frontal cortex. The purpose of this study was to systematically investigate the morphological changes in the deep gray matter (GM) structures using techniques of voxel based morphometry (VBM), MR volumetry and shape analysis.MethodologyThe study included 40 patients with JME (M:F=21:19; age 22.8±5.3 years) and 19 matched controls (M:F=13:6; age 24.5±4.2 years). All subjects underwent MRI using standard protocol that included T1-3D TFE (Turbo Field Echo) images with 1mm thickness. VBM analysis and MR volumetry were performed. The volumes of deep subcortical GM structures were extracted and vertex-wise shape analysis was performed using FSL-FIRST (FSL-Integrated Registration and Segmentation Toolbox) software.ResultsVBM analysis with a thalamic mask revealed focal thalamic alterations in the anteromedial aspect of the thalamus (p<0.05, false discovery rate (FDR) corrected) which remained significant after adjusting for age, gender and intracranial volume (ICV). Significant volume loss was noted in both the thalami. Vertex-wise shape analysis showed significant focal surface reductions in the thalami bilaterally in patients that were predominantly seen in the medial as well as lateral aspects of the thalamus (p<0.05, FDR corrected). The disease duration correlated with left hippocampus volume while age of onset correlated with right hippocampus volume.ConclusionsThis study confirms the presence of thalamic alterations in patients with JME. Shape analysis technique provided complementary information and disclosed the presence of focal atrophic changes in patients’ thalami. The striatum and hippocampus did not show any significant alterations

Structural behavior of mortarless interlocking load bearing hollow block wall panel under out-of-plane loading.

Experimental and numerical investigation of interlocking mortarless wall panels with 1.0 m height, 1.2 m width and 150 mm thickness are conducted. Behaviour of both hollow and partially grouted masonry wall panels is studied. The panels were tested under constant pre-compressive vertical load and out-of-plane lateral load. Lateral load carrying capacity, deflection at mid height, dry joint opening between block layers and mode of failure are investigated. Strain characteristics throughout the loading process are also monitored. A finite element analysis is presented for the system and a good agreement between the experimental and modelling results is achieved. Parametric study using the finite element model is also presented and the effect of different parameters; amount of pre-compressive load and slenderness ratio is studied. The study reveals that pre-compressive vertical load and reinforcement significantly affect the structural behaviour of mortarless walls under out-of-plane loading. Useful expressions for the capacity are obtained from the analysis

Pneumatic Splints : Fabrication and Use in Neurorehabilitation

Asymmetrical tone and weakness in antagonistic muscles often result in misalignment of joint, contractures and deformities. Traditional static splints used to prevent these complications are expensive, have to be custom made and cannot be used when deformities are marked. Authors describe fabrication and use of pneumatic splints, which are economic, safe and easy to apply. These splints have wide application in the management of common medical problems in neurological rehabilitation like hypotension, edema, pain, spasticity and early deformities

Balint&#x2032;s Syndrome As a Manifestation of Solitary Right Occipital Lobe Metastasis

Balint&#x2032;s syndrome is a rare clinical condition characterized by a triad of occulomotor apraxia (psychic paralysis of gaze), optic ataxia and visual inattention and usually follows bilateral parieto-occipital lesions. We report this syndrome occurring in a patient with a solitary metastasis in right occipital lobe. To the best of our knowledge it has not been previously described in English literature. Pressure over the opposite occipital lobe due to mass effect, diaschisis and extension of edema along the corpus callosum involvement may contribute to this exceptional phenomenon

Deletion analysis of spinal muscular atrophy in southern Indian population

Background: Proximal spinal muscular atrophy (SMA) is a genetically heterogeneous disease with paresis and muscle atrophy due to loss of anterior horn cell function. The survival of motor neuron gene (SMN) and neuronal apoptosis inhibitory protein (NAIP) play a primary role. Both the gene homologues exist as inverted duplications on Chromosome 5q. The telomeric/functional (SMN1) and the centromeric (SMN2) copies differ from each other in eight nucleotides. The C→T transition (at Codon 280) within Exon 7 of SMN2 causes disruption of an exonic splicing enhancer (ESE) and/or creates an exonic splicing silencer (ESS) leading to abnormal splicing and a truncated protein. Objective: To determine the molecular genetics of SMN1 and NAIP genes in SMA from southern India. Materials and Methods: In the present study, 37 patients from the neuromuscular disorders clinic of National Institute of Mental Health and Neurosciences were assayed for the deletions in the SMN1 and NAIP genes using PCR-RFLP methods. Results: Among the SMA Type I patients, 43% showed deletions of SMN1 and NAIP. In patients Type II SMA, 57% showed deletions of the SMN1 exons. Conclusion: Thus, deletions were found to occur in 47.8% of the Type I and II patients. Lower sensitivity of gene deletion study in clinically suspected SMA needs further study as clinical diagnosis of SMA is not gold standard. However, the results do correlate with other studies conducted in India

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with variable age of onset. Our patient showed only late-onset PEO-plus syndrome without overt cardiac involvement. Available data suggest that early-onset cardiomyopathy variants localize in important structural domains and PEO-plus variants in the coiled-coil region. Our patient demonstrates that C1QBP mutations should be considered in individuals with PEO with or without cardiomyopathy. (c) 2021 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/