Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat
Keyword(s):  
Gene Mutations ◽  
Febrile Illness ◽  
Flaccid Paralysis ◽  
Thiamine Pyrophosphate ◽  
Homozygous Mutation ◽  
Missense Variation ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Generation Sequencing ◽  
Striatal Necrosis

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

scholarly journals Movement Disorders Associated With Hemochromatosis

2016 ◽  
Vol 43 (6) ◽  
pp. 801-808 ◽  
Author(s):  
Niraj Kumar ◽  
Philippe Rizek ◽  
Bekim Sadikovic ◽  
Paul C. Adams ◽  
Mandar Jog
Keyword(s):  
Movement Disorders ◽  
Genetic Disorder ◽  
Red Nucleus ◽  
Hereditary Hemochromatosis ◽  
Gene Mutations ◽  
Iron Deposition ◽  
Homozygous Mutation ◽  
The Third ◽  
London Health ◽  
The Brain

AbstractBackground:Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders.Methods:We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015.Results:We found three HH patients with movement disorders, without any other major systemic manifestation. One had parkinsonism, another had chorea, and the third had tremor. All three patients had evidence of iron deposition in the brain, affecting the basal ganglia in the first two, and the dentate nucleus, red nucleus, and substantia nigra in the third patient. In addition to the C282Y homozygous mutation in theHFEgene, two of our patients had non-HFEgene mutations.Conclusion:HH should be considered in the differential diagnosis of movement disorders with pathological brain iron deposition. We report for the first time chorea in a patient with HH. Non-HFEgene mutations may predispose HH patients to iron deposition in the brain.

scholarly journals Beyond Oncological Hyperthermia: Physically Drivable Magnetic Nanobubbles as Novel Multipurpose Theranostic Carriers in the Central Nervous System

Molecules ◽  
2020 ◽  
Vol 25 (9) ◽  
pp. 2104 ◽  
Author(s):  
Eleonora Ficiarà ◽  
Shoeb Anwar Ansari ◽  
Monica Argenziano ◽  
Luigi Cangemi ◽  
Chiara Monge ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Tumors ◽  
Ad Hoc ◽  
Superparamagnetic Iron Oxide ◽  
Conventional Radiotherapy ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

Magnetic Oxygen-Loaded Nanobubbles (MOLNBs), manufactured by adding Superparamagnetic Iron Oxide Nanoparticles (SPIONs) on the surface of polymeric nanobubbles, are investigated as theranostic carriers for delivering oxygen and chemotherapy to brain tumors. Physicochemical and cyto-toxicological properties and in vitro internalization by human brain microvascular endothelial cells as well as the motion of MOLNBs in a static magnetic field were investigated. MOLNBs are safe oxygen-loaded vectors able to overcome the brain membranes and drivable through the Central Nervous System (CNS) to deliver their cargoes to specific sites of interest. In addition, MOLNBs are monitorable either via Magnetic Resonance Imaging (MRI) or Ultrasound (US) sonography. MOLNBs can find application in targeting brain tumors since they can enhance conventional radiotherapy and deliver chemotherapy being driven by ad hoc tailored magnetic fields under MRI and/or US monitoring.

scholarly journals An improved framework for brain tumor analysis using MRI based on YOLOv2 and convolutional neural network

2021 ◽  
Author(s):  
Muhammad Irfan Sharif ◽  
Jian Ping Li ◽  
Javeria Amin ◽  
Abida Sharif
Keyword(s):  
Brain Tumor ◽  
Tumor Detection ◽  
Entropy Method ◽  
Feature Extraction And Selection ◽  
Tumor Region ◽  
Selection For ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Complicated Task

AbstractBrain tumor is a group of anomalous cells. The brain is enclosed in a more rigid skull. The abnormal cell grows and initiates a tumor. Detection of tumor is a complicated task due to irregular tumor shape. The proposed technique contains four phases, which are lesion enhancement, feature extraction and selection for classification, localization, and segmentation. The magnetic resonance imaging (MRI) images are noisy due to certain factors, such as image acquisition, and fluctuation in magnetic field coil. Therefore, a homomorphic wavelet filer is used for noise reduction. Later, extracted features from inceptionv3 pre-trained model and informative features are selected using a non-dominated sorted genetic algorithm (NSGA). The optimized features are forwarded for classification after which tumor slices are passed to YOLOv2-inceptionv3 model designed for the localization of tumor region such that features are extracted from depth-concatenation (mixed-4) layer of inceptionv3 model and supplied to YOLOv2. The localized images are passed toMcCulloch'sKapur entropy method to segment actual tumor region. Finally, the proposed technique is validated on three benchmark databases BRATS 2018, BRATS 2019, and BRATS 2020 for tumor detection. The proposed method achieved greater than 0.90 prediction scores in localization, segmentation and classification of brain lesions. Moreover, classification and segmentation outcomes are superior as compared to existing methods.

scholarly journals Cinematic rendering of a burst sagittal suture caused by an occipito-frontal gunshot wound

2021 ◽  
Author(s):  
Dominic Gascho ◽  
Michael J. Thali ◽  
Rosa M. Martinez ◽  
Stephan A. Bolliger
Keyword(s):  
Gunshot Wound ◽  
Three Dimensional ◽  
The Novel ◽  
Sagittal Suture ◽  
Resonance Imaging ◽  
Cinematic Rendering ◽  
Reconstruction Methods ◽  
Dimensional Reconstruction ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

AbstractThe computed tomography (CT) scan of a 19-year-old man who died from an occipito-frontal gunshot wound presented an impressive radiating fracture line where the entire sagittal suture burst due to the high intracranial pressure that arose from a near-contact shot from a 9 mm bullet fired from a Glock 17 pistol. Photorealistic depictions of the radiating fracture lines along the cranial bones were created using three-dimensional reconstruction methods, such as the novel cinematic rendering technique that simulates the propagation and interaction of light when it passes through volumetric data. Since the brain had collapsed, depiction of soft tissue was insufficient on CT images. An additional magnetic resonance imaging (MRI) examination was performed, which enabled the diagnostic assessment of cerebral injuries.

Lateral Medullary Infarction with Contralateral Segmental Dysesthesia and Ipsilateral Headache: A Case Report

2021 ◽  
Vol 17 ◽  
Author(s):  
Renjie Wang ◽  
Yankun Shao ◽  
Lei Xu
Keyword(s):  
Medulla Oblongata ◽  
Clinical Manifestations ◽  
Lateral Medullary Infarction ◽  
Case Presentation ◽  
Specific Sign ◽  
Temperature Sense ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
The Brain ◽  
Medullary Infarction

Introduction: The medulla oblongata is the lowest segment of the brain stem, located adjacent to the spinal cord, with a complex anatomical structure. Thus, a small injury to the medulla oblongata can show complex clinical manifestations. Case Presentation: A patient experienced dysesthesia, which manifested as numbness in her right lower limb and decreased temperature sense, and dizziness 20 days before admission. The numbness worsened 1 week before admission, reaching the right thoracic (T) 12 dermatomes. Her thermoception below the T12 dermatomes decreased, and the degree of dizziness increased, accompanied by nausea and vomiting. Magnetic resonance imaging (MRI) of the neck, chest, and abdomen performed at a local hospital showed no abnormalities. MRI of the brain was performed after admission. One week after admission, she experienced a severe headache in the upper left periorbital area. The numbness extended to T4, and thermoception decreased below T4. Diagnosis: Lateral medullary infarction. Interventions: Anti-platelet aggregation and mitochondrial nutritional therapies were performed along with treatments for improving circulation and establishing collateral circulation. Outcomes: The intensity of limb numbness decreased, and the symptoms of headache and dizziness resolved. Conclusion: Lesions leading to segmental sensory disorders can occur in the medulla oblongata. Ipsilateral headaches with contralateral segmental paresthesia can be a specific sign of lateral medullary infarction.

Ammonia toxicity and cerebral oxidative metabolism

1961 ◽  
Vol 200 (3) ◽  
pp. 420-424 ◽  
Author(s):  
Guy M. McKhann ◽  
Donald B. Tower
Keyword(s):  
Oxidative Metabolism ◽  
Incubation Medium ◽  
Lactic Acid Production ◽  
Ammonia Toxicity ◽  
Thiamine Pyrophosphate ◽  
Oxidative Decarboxylation ◽  
Cortex Slices ◽  
The Brain ◽  
Cat Cerebral Cortex

Effects of NH4Cl on oxidative metabolism of cat cerebral cortex slices and mitochondria incubated in vitro were studied. In slices, addition of 10 mm NH4Cl to the incubation medium resulted in significant (16%) reduction of O2 uptake, doubling of lactic acid production and marked increase of glucose utilization compared to control slices. Mitochondria showed a 30–40% decrease of O2 consumption in the presence of 15 mm NH4Cl when pyruvate or α-ketoglutarate were substrates, but little if any difference from controls with succinate, glutamic acid or γ-aminobutyric acid as substrates. Pyruvate utilization by ammonia-treated mitochondria was inhibited to the same degree as O2 consumption and was not increased by supplementing the incubation medium with excess succinate. Additions of α-lipoic acid, thiamine pyrophosphate or DPN to such preparations failed to reverse the NH4Cl effect. Satisfactory P/O ratios were obtained for all mitochondrial preparations. It is concluded that a primary toxic effect of ammonia on the brain may be direct interference with oxidative decarboxylation of pyruvic and α-ketoglutaric acids.

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