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https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#1
Agnieszka Szmigielska, Grażyna Krzemień, Anna Zacharzewska, Teresa Dudek-Warchoł, Stanisław Warchoł
Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29775168/dysphagia-in-supratentorial-recent-small-subcortical-infarcts-results-from-bilateral-pyramidal-tract-damage
#2
Simon Fandler, Thomas Gattringer, Daniela Pinter, Lukas Pirpamer, Florian Borsodi, Sebastian Eppinger, Kurt Niederkorn, Christian Enzinger, Franz Fazekas
Background Dysphagia occurs in up to 20% of patients with a recent small subcortical infarct, even when excluding brainstem infarcts. Aim To examine the impact of lesion topography and concomitant cerebrovascular lesions on the occurrence of dysphagia in patients with a single supratentorial recent small subcortical infarct. Methods We retrospectively identified all inpatients with magnetic resonance imaging-confirmed supratentorial recent small subcortical infarcts over a five-year period. Dysphagia was determined by speech-language therapists...
January 1, 2018: International Journal of Stroke: Official Journal of the International Stroke Society
https://www.readbyqxmd.com/read/29768361/a-novel-kiaa0196-mutation-in-a-chinese-patient-with-spastic-paraplegia-8-a-case-report
#3
Limin Ma, Yingying Shi, Zhongcan Chen, Shujian Li, Weiwei Qin, Jiewen Zhang
RATIONALE: We report a case of Spastic paraplegia 8 (SPG8) with a novel mutation of KIAA0196 gene. PATIENTS CONCERNS: A 12-year-old boy presented as ankle sprained, lower limb stiffness, abnormal gait since he was 5 years old. DIAGNOSES: The next generation sequence showed a novel c.1128delG (p.L376fs) mutation in KIAA0196 gene, the electromyography showed the pyramidal tract conduction dysfunction and deep sensory conduction abnormalities of lower limbs without motor neuron damage...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29718256/dscam-mutation-impairs-motor-cortex-network-dynamic-and-voluntary-motor-functions
#4
Olivier D Laflamme, Maxime Lemieux, Louise Thiry, Frédéric Bretzner
While it is well known that netrin-1 and its receptors UNC5 and UNC40 family members are involved in the normal establishment of the motor cortex and its corticospinal tract, less is known about its other receptor Down syndrome cell adherence molecule (DSCAM). DSCAM is expressed in the developing motor cortex, regulates axonal outgrowth of cortical neurons, and its mutation impairs the dendritic arborization of cortical neurons, thus suggesting that it might be involved in the normal development and functioning of the motor cortex...
April 27, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29706871/plasticity-in-one-hemisphere-control-from-two-adaptation-in-descending-motor-pathways-after-unilateral-corticospinal-injury-in-neonatal-rats
#5
Tong-Chun Wen, Sophia Lall, Corey Pagnotta, James Markward, Disha Gupta, Shivakeshavan Ratnadurai-Giridharan, Jacqueline Bucci, Lucy Greenwald, Madelyne Klugman, N Jeremy Hill, Jason B Carmel
After injury to the corticospinal tract (CST) in early development there is large-scale adaptation of descending motor pathways. Some studies suggest the uninjured hemisphere controls the impaired forelimb, while others suggest that the injured hemisphere does; these pathways have never been compared directly. We tested the contribution of each motor cortex to the recovery forelimb function after neonatal injury of the CST. We cut the left pyramid (pyramidotomy) of postnatal day 7 rats, which caused a measurable impairment of the right forelimb...
2018: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/29692521/clinicoradiological-aspects-of-pontine-tegmental-cap-dysplasia-case-report-of-a-rare-hindbrain-malformation
#6
Aanchal Bhayana, Sunil K Bajaj, Ritu N Misra, S Senthil Kumaran
Malformations involving the brainstem are very rare and present with a varied spectrum of clinical symptoms due to multiple cranial nerve palsies and pyramidal tract involvement. Of these, pontine tegmental cap dysplasia is a very unusual malformation, characterized by ventral pons hypoplasia and an ectopic dorsal band of tissue, projecting into the fourth ventricle, from dorsal pontine tegmentum. A 4-year-old male child, presenting with left facial nerve palsy, revealed hypoplastic ventral pons and an ectopic structure on magnetic resonance imaging (MRI)...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29685630/symptomatic-medulla-compression-by-vertebral-artery
#7
Leszek Lombarski, Przemysław Kunert, Marcin Skawiński, Marek Prokopienko, Zbigniew Lewandowski, Andrzej Marchel
OBJECTIVE: Vertebral artery medulla compression syndrome (VAMCS) is a very rare condition manifesting as different neurological focal deficits. The case of a 36-year-old male with symptomatic brainstem compression by vertebral artery (VA) treated by means of microvascular decompression (MVD) and a review of the literature is presented. CASE REPORT: On admission, a 36-year-old patient presented with hypoalgesia, hypothermesthesia and hemiparesis on the left side...
March 17, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29665155/defining-mechanisms-of-neural-plasticity-after-brainstem-ischemia-in-rats
#8
Jens Minnerup, Jan-Kolja Strecker, Lydia Wachsmuth, Maike Hoppen, Antje Schmidt, Dirk M Hermann, Heinz Wiendl, Sven Meuth, Cornelius Faber, Kai Diederich, Wolf Rüdiger Schäbitz
OBJECTIVE: Neurological recovery after stroke mainly depends on the location of the lesion. A substantial portion of strokes affects the brainstem. However, patterns of neural plasticity following brainstem ischemia are almost unknown. METHODS: Here, we established a rat brainstem ischemia model that resembles key features of the human disease and investigated mechanisms of neural plasticity including neurogenesis and axonal sprouting as well as secondary neurodegeneration...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29656311/consensus-paper-neurophysiological-assessments-of-ataxias-in-daily-practice
#9
REVIEW
W Ilg, M Branscheidt, A Butala, P Celnik, L de Paola, F B Horak, L Schöls, H A G Teive, A P Vogel, D S Zee, D Timmann
The purpose of this consensus paper is to review electrophysiological abnormalities and to provide a guideline of neurophysiological assessments in cerebellar ataxias. All authors agree that standard electrophysiological methods should be systematically applied in all cases of ataxia to reveal accompanying peripheral neuropathy, the involvement of the dorsal columns, pyramidal tracts and the brainstem. Electroencephalography should also be considered, although findings are frequently non-specific. Electrophysiology helps define the neuronal systems affected by the disease in an individual patient and to understand the phenotypes of the different types of ataxia on a more general level...
April 14, 2018: Cerebellum
https://www.readbyqxmd.com/read/29643636/atypical-presentation-of-posterior-reversible-encephalopathy-syndrome-two-cases
#10
Nishant Kumar, Ranju Singh, Neha Sharma, Aruna Jain
Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity, first described in 1996. It is commonly associated with systemic hypertension, intake of immunosuppressant drugs, sepsis and eclampsia and preeclampsia. Headache, alteration in consciousness, visual disturbances and seizures are common manifestations of PRES. Signs of pyramidal tract involvement and motor dysfunction are uncommon clinical findings. However, clinical presentation is not diagnostic. On neuroimaging, lesions are characteristically found in parieto occipital region of the brain due to vasogenic edema...
January 2018: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29605507/developmental-dysgraphia-is-often-associated-with-minor-neurological-dysfunction-in-children-with-developmental-coordination-disorder-dcd
#11
Clémence Lopez, Cherhazad Hemimou, Bernard Golse, Laurence Vaivre-Douret
OBJECTIVES: Children with developmental coordination disorder (DCD) are particularly affected by handwriting disorders, which remain poorly understood and are not clearly defined. The aim of our study is to provide a better understanding of handwriting disorders, and specifically of dysgraphia in children with DCD. METHODS: Sixty-five children with DCD (5-15 years), enrolled according to DSM-5, were assessed with handwriting testing and standardized assessments of neuropsychological, neurovisual, MRI and neuropsychomotor functions, with special attention paid to muscular tone examination...
March 28, 2018: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29603402/expression-of-crym-in-different-rat-organs-during-development-and-its-decreased-expression-in-degenerating-pyramidal-tracts-in-amyotrophic-lateral-sclerosis
#12
Reiji Hommyo, Satoshi O Suzuki, Nona Abolhassani, Hideomi Hamasaki, Masahiro Shijo, Norihisa Maeda, Hiroyuki Honda, Yusaku Nakabeppu, Toru Iwaki
The protein μ-crystallin (CRYM) is a novel component of the marsupial lens that has two functions: it is a key regulator of thyroid hormone transportation and a reductase of sulfur-containing cyclic ketimines. In this study, we examined changes of the expression pattern of CRYM in different rat organs during development using immunohistochemistry and immunoblotting. As CRYM is reportedly expressed in the corticospinal tract, we also investigated CRYM expression in human cases of amyotrophic lateral sclerosis (ALS) using immunohistochemistry...
March 30, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29590745/high-frequency-stimulation-of-the-subthalamic-nucleus-activates-motor-cortex-pyramidal-tract-neurons-by-a-process-involving-local-glutamate-gaba-and-dopamine-receptors-in-hemi-parkinsonian-rats
#13
Chi-Fen Chuang, Chen-Wei Wu, Ying Weng, Pei-San Hu, Shin-Rung Yeh, Yen-Chung Chang
Deep brain stimulation (DBS) is widely used to treat advanced Parkinson’s disease. Here, we investigated how DBS applied on the subthalamic nucleus (STN) influenced the neural activity in the motor cortex. Rats, which had the midbrain dopaminergic neurons partially depleted unilaterally, called the hemi-Parkinsonian rats, were used as a study model. c-Fos expression in the neurons was used as an indicator of neural activity. Application of high-frequency stimulation (HFS) upon the STN was used to mimic the DBS treatment...
March 29, 2018: Chinese Journal of Physiology
https://www.readbyqxmd.com/read/29579287/prospective-tractography-based-targeting-for-improved-safety-of-focused-ultrasound-thalamotomy
#14
Vibhor Krishna, Francesco Sammartino, Punit Agrawal, Barbara K Changizi, Eric Bourekas, Michael V Knopp, Ali Rezai
BACKGROUND: Focused ultrasound thalamotomy (FUS-T) was recently approved for the treatment of refractory essential tremor (ET). Despite its noninvasive approach, FUS-T reinitiated concerns about the adverse effects and long-term efficacy after lesioning. OBJECTIVE: To prospectively assess the outcomes of FUS-T in 10 ET patients using tractography-based targeting of the ventral intermediate nucleus (VIM). METHODS: VIM was identified at the intercommissural plane based on its neighboring tracts: the pyramidal tract and medial lemniscus...
March 21, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29567804/primary-traumatic-axonopathy-in-mice-subjected-to-impact-acceleration-a-reappraisal-of-pathology-and-mechanisms-with-high-resolution-anatomical-methods
#15
Nikolaos K Ziogas, Vassilis E Koliatsos
Traumatic axonal injury (TAI) is a common neuropathology in traumatic brain injury (TBI) and is featured by primary injury to axons. Here, we generated TAI with impact acceleration of the head (IA) in male Thy1-eYFP-H transgenic mice in which specific populations of neurons and their axons are labeled with yellow fluorescent protein (YFP). This model results in axonal lesions in multiple axonal tracts along with blood brain barrier (BBB) disruption and neuroinflammation. The corticospinal tract (CST), a prototypical long tract, is severely affected and is the focus of this study...
March 22, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29544888/clinical-phenotype-of-hereditary-spastic-paraplegia-due-to-kif1c-gene-mutations-across-life-span
#16
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, Kader Karlı Oğuz, Mahmut Şamil Sağıroğlu, Uğur Özbek, Esra Serdaroğlu, Başar Bilgiç, Sevim Erdem, Sibel Aylin Uğur İşeri, Haşmet Hanağası, Hakan Gürvit, Rıza Köksal Özgül, Ali Dursun
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIF1C mutations (c...
June 2018: Brain & Development
https://www.readbyqxmd.com/read/29538708/endoscopic-endonasal-transclival-approach-for-resection-of-a-pontine-glioma-surgical-planning-surgical-anatomy-and-technique
#17
David T Fernandes Cabral, Georgios A Zenonos, Maximiliano Nuñez, Pinar Celtikci, Carl Snyderman, Eric Wang, Paul A Gardner, Juan C Fernandez-Miranda
BACKGROUND: The endoscopic endonasal approach (EEA) has been proposed as a potential alternative for ventral brainstem lesions. The surgical anatomy, feasibility, and limitations of the EEA for intrinsic brainstem lesions are still poorly understood. OBJECTIVE: To describe the surgical planning, anatomy, and technique of an intrinsic pontine glioma operated via EEA. METHODS: Six-human brainstems were prepared for white matter microdissection...
March 12, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29518364/subacute-intranasal-administration-of-tissue-plasminogen-activator-improves-stroke-recovery-by-inducing-axonal-remodeling-in-mice
#18
Ning Chen, Michael Chopp, Ye Xiong, Jian-Yong Qian, Mei Lu, Dong Zhou, Li He, Zhongwu Liu
In addition to thrombolysis, tissue plasminogen activator (tPA) can evoke neurorestorative processes. We therefore investigated the therapeutic effect of subacute intranasal administration of tPA post stroke on neurological recovery and on corticospinal innervation in mice. A transgenic mouse line, in which the pyramidal neurons and corticospinal tract (CST) axons are specifically labeled by yellow fluorescent protein (YFP) was employed. Adult CST-YFP mice were subjected to right unilateral middle cerebral artery occlusion (MCAo), and were randomly divided into groups treated with saline or tPA intranasally in the subacute phase...
June 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29462365/supratentorial-cavernous-malformations-involving-the-cortico-spinal-tract-and-sensory-motor-cortex-treatment-strategies-surgical-considerations-and-outcomes
#19
Miran Skrap, Maria Caterina Vescovi, Giada Pauletto, Marta Maieron, Barbara Tomasino, Daniele Bagatto, Francesco Tuniz
BACKGROUND: Cavernous malformations (CMs) are congenital malformations and may be located anywhere in the brain. We present a series of CMs located close to or inside of the motor-sensory cortex or corticospinal tract (CST) with clinical onset due to hemorrhage or mass effect. In such cases, surgery becomes an acceptable option. OBJECTIVE: To evaluate the role of diffusion tensor imaging (DTI), functional-magnetic-resonance imaging (fMRI), intraoperative neurophysiological monitoring, neuronavigation, and brain-mapping and the clinical results of surgical treatment of CMs in this critical location...
February 16, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29383515/diffusion-tensor-imaging-in-metachromatic-leukodystrophy
#20
Diane F van Rappard, Marsh Königs, Marjan E Steenweg, Jaap Jan Boelens, Jaap Oosterlaan, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
OBJECTIVE: We aimed to gain more insight into the pathomechanisms of metachromatic leukodystrophy (MLD), by comparing magnitude and direction of diffusion between patients and controls at diagnosis and during follow-up. METHODS: Four late-infantile, 16 juvenile and 8 adult onset MLD patients [of which 13 considered eligible for hematopoietic cell transplantation (HCT)] and 47 controls were examined using diffusion tensor imaging. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) were quantified and compared between groups using tract-based spatial statistics (TBSS)...
March 2018: Journal of Neurology
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