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Quadriplegia

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https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#1
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28724464/refractory-longitudinally-extensive-transverse-myelitis-responsive-to-cyclophosphamide
#2
Laura J Baxter, Shuo Chen, Philippe Couillard, James N Scott, Christopher J Doig, Fiona Costello, Louis P Girard, John Klassen, Jodie M Burton
Severe longitudinally extensive transverse myelitis (LETM) can cause quadriplegia, marked sensory dysfunction, and respiratory failure. Some patients are unresponsive to conventional immune therapy. We report two cases of severe immune-mediated LETM requiring intensive care admission that failed to respond to high-dose corticosteroids, plasma exchange, intravenous immunoglobulin, and rituximab. Disease cessation and significant recovery was achieved after cyclophosphamide induction. In patients with severe acute immune-mediated LETM who fail to respond to corticosteroids and plasma exchange, cyclophosphamide induction should be considered...
July 20, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28720987/management-of-post-traumatic-neglected-cervical-facet-dislocation
#3
Vinay Prabhat, Tankeshwar Boruah, Hitesh Lal, Ramesh Kumar, Ashish Dagar, Harekrushna Sahu
BACKGROUND: Post-traumatic unilateral or bilateral sub-axial cervical spine dislocations with locked facets are quite common. In developing countries like India, many patients with cervical injuries report late due to many reasons like rural backgrounds, lack of infrastructures and skilled surgeons, unawareness, poor socioeconomic status, lack of transportation to the specialized center with proper facility, etc. Early management is essential to maximize better neurological outcome. Delayed or neglected presentation makes treatment more challenging...
April 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28720407/mechanical-properties-of-the-human-spinal-cord-under-the-compressive-loading
#4
Alireza Karimi, Ahmad Shojaei, Pedram Tehrani
The spinal cord as the most complex and critical part of the human body is responsible for the transmission of both motor and sensory impulses between the body and the brain. Due to its pivotal role any types of physical injury in that disrupts its function following by shortfalls, including the minor motor and sensory malfunctions as well as complicate quadriplegia and lifelong ventilator dependency. In order to shed light on the injuries to the spinal cord, the application of the computational models to simulate the trauma impact loading to that are deemed required...
July 15, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28715613/isolation-and-characterization-of-canine-placenta-derived-mesenchymal-stromal-cells-for-the-treatment-of-neurological-disorders-in-dogs
#5
Connor Long, Lee Lankford, Priyadarsini Kumar, Robert Grahn, Dori L Borjesson, Diana Farmer, Aijun Wang
Spinal cord injury (SCI) is a devastating disorder that affects humans and dogs. The prognosis of SCI depends on the severity of the injury and can include varying levels of motor and sensory deficits including devastating paraplegia and quadriplegia. Placental mesenchymal stromal cells (PMSCs) have been shown to improve wound healing and possess neuroprotective and immunomodulatory capabilities, but have not yet been clinically tested for the treatment of SCI. This study established a protocol to isolate fetal PMSCs from canine placentas and characterized their paracrine secretion profile and ability to stimulate neurons in vitro to assess their potential as a treatment option for neurological disorders in dogs...
July 17, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#6
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28649479/functional-outcomes-of-childhood-selective-dorsal-rhizotomy-20-to-28-years-later
#7
T S Park, Jenny L Liu, Caleb Edwards, Deanna M Walter, Matthew B Dobbs
BACKGROUND: Selective dorsal rhizotomy (SDR) is a surgical method used to treat childhood spastic cerebral palsy (CP). However, the effects of early SDR on functional outcomes and quality of life decades later in adulthood remains to be elucidated. OBJECTIVES: To evaluate the long-term outcomes in terms of satisfaction and mobility of adult patients who received childhood SDR. METHODS: Adult patients who received SDR in childhood were surveyed...
May 17, 2017: Curēus
https://www.readbyqxmd.com/read/28630395/cerebral-infarction-by-paradoxical-gas-embolism-during-laparoscopic-liver-resection-with-injury-of-the-hepatic-vessels-in-a-patient-without-a-right-to-left-systemic-shunt
#8
Toshiyasu Kawahara, Masahiro Hagiwara, Hiroyuki Takahashi, Mariko Tanaka, Koji Imai, Jun Sawada, Takayuki Kunisawa, Hiroyuki Furukawa
BACKGROUND Carbon dioxide (CO2) is believed to be the safest gas for laparoscopic surgery, which is a standard procedure. We experienced severe cerebral infarction caused by paradoxical CO2 embolism during laparoscopic liver resection with injury of the hepatic vessels despite the absence of a right-to-left systemic shunt. CASE REPORT A 60-year-old man was diagnosed with hepatocellular carcinoma in the right hepatic lobe secondary to alcoholic liver disease. We planned the laparoscopy-assisted liver resection...
June 20, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28626301/effect-of-neurodevelopmental-treatment-based-physical-therapy-on-the-change-of-muscle-strength-spasticity-and-gross-motor-function-in-children-with-spastic-cerebral-palsy
#9
Eun-Young Park, Won-Ho Kim
[Purpose] This study aimed to investigate the effectiveness of neurodevelopmental treatment-based physical therapy on muscle tone, strength, and gross motor function in children with spastic cerebral palsy. [Subjects and Methods] One-hundred-seventy-five children with spastic cerebral palsy (88 diplegia; 78 quadriplegia) received neurodevelopmental treatment-based physical therapy for 35 minutes per day, 2-3 times per week for 1 year. Spasticity, muscle strength, and gross motor function were measured before and after treatment with the Modified Ashworth Scale, Manual Muscle Testing, and Gross Motor Function Measure, respectively...
June 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28607823/traumatic-spondyloptosis-of-the-cervical-spine-a-case-report-and-discussion-of-worldwide-treatment-trends
#10
Kelly E Wong, Peter S Chang, Mark S Monasky, Rodney M Samuelson
BACKGROUND: Cervical spondyloptosis is defined as the dislocation of the spinal column most often caused by trauma. Due to compression or transection of the spinal cord, severe neurological deficits are common. Here, we review the literature and report a case of traumatic C5-6 spondyloptosis that was successfully treated using an anterior-only surgical approach. METHODS: The patient presented with quadriplegia and absent sensation distal to the C5 dermatome following a rollover motor vehicle accident...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28596469/-a-case-of-takayasu-arteritis-with-acute-bilateral-occlusion-of-the-internal-carotid-arteries
#11
Takuya Ebata, Junichi Uemura, Hidekazu Yamazaki, Keisuke Imai, Yoshiki Yagita
A 38-year-old woman developed disturbance of consciousness and quadriplegia. Magnetic resonance images showed scattered acute infarcts in both hemispheres and bilateral occlusion of the intracranial artery (ICA). Immediate mechanical thrombectomy restored the patency of the ICA. Contrast-enhanced computed tomography revealed bilateral wall thickening of the abdominal aorta and the iliac arteries. This finding and an elevated erythrocyte sedimentation rate supported the diagnosis of Takayasu arteritis. Here, we thus report a rare case of Takayasu arteritis with acute bilateral occlusion of the internal carotid arteries...
June 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28593744/thermosensitive-heparin-poloxamer-hydrogels-enhance-the-effects-of-gdnf-on-neuronal-circuit-remodeling-and-neuroprotection-after-spinal-cord-injury
#12
Ying-Zheng Zhao, Xi Jiang, Qian Lin, He-Lin Xu, Ya-Dong Huang, Cui-Tao Lu, Jun Cai
Traumatic spinal cord injury (SCI) results in paraplegia or quadriplegia, and currently, therapeutic interventions for axonal regeneration after SCI are not clinically available. Animal studies have revealed that glial cell-derived neurotrophic factor (GDNF) plays multiple beneficial roles in neuroprotection, glial scarring remodeling, axon regeneration and remyelination in SCI. However, the poor physicochemical stability of GDNF, as well as its limited ability to cross the blood-spinal cord barrier, hampers the development of GDNF as an effective therapeutic intervention in clinical practice...
June 7, 2017: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/28571225/correspondence-skeletal-maturation-and-mineralization-of-children-with-moderate-to-severe-spastic-quadriplegia
#13
Anirban Mandal, Amitabh Singh, Puneet Kaur Sahi, Bhavika Rishi
No abstract text is available yet for this article.
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28566775/orthopedic-surgery-in-cerebral-palsy-instructional-course-lecture
#14
Deepak Sharan
Orthopedic surgery (OS) plays an important role in the management of cerebral palsy (CP). The objectives of OS are to optimize functions and prevent deformity. Newer developments in OS for CP include emphasis on hip surveillance, minimally invasive procedures, use of external fixators instead of plates and screws, better understanding of lever arm dysfunctions (that can only be corrected by bony OS), orthopedic selective spasticity-control surgery, and single-event multilevel lever arm restoration and anti spasticity surgery, which have led to significant improvements in gross motor function and ambulation, especially in spastic quadriplegia, athetosis, and dystonia...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28553372/clinical-spectrum-comorbidities-and-risk-factor-profile-of-cerebral-palsy-children-a-prospective-study
#15
Priyanka Minocha, Sadasivan Sitaraman, Pallavi Sachdeva
AIM AND OBJECTIVE: Cerebral palsy (CP) is the most common motor disability in childhood. This study aimed to describe clinical spectrum, comorbidities, and risk factors associated with CP children. MATERIALS AND METHODS: This hospital-based observational study was conducted in tertiary level hospital in Jaipur including 180 CP children aged 1-12 years, attending the Paediatric Neurology Outdoor and Child Development Centre. A detailed history of antenatal, natal, and postnatal events taken and thorough examination was performed to stratify children in proper topographical and physiological classification...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28543186/clinical-biochemical-and-genetic-aspects-of-sj%C3%A3-gren-larsson-syndrome
#16
REVIEW
Kye Hee Cho, Sung Han Shim, MinYoung Kim
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28540126/neurological-complications-of-lumbar-and-cervical-dural-punctures-with-a-focus-on-epidural-injections
#17
Nancy E Epstein
BACKGROUND: Various types of lumbar dural punctures may contribute to neurological injury. The etiologies of dural injury include; inadvertent dural punctures due to epidurals placed for labor anesthesia, epidural steroid injections (ESI/transforaminal TESI; approximately 9 million ESI performed in the US per year), deliberate placement of intradural pain devices, and spontaneous cerebrospinal fluid (CSF) fistulas. Resulting neurological complications may include; spinal headaches/intracranial hypotension, subdural hematomas, and 6(th) nerve cranial palsies...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28509122/severe-hyponatremia-in-a-patient-with-schizophrenia-associated-with-prolonged-consciousness-disturbance
#18
Kunihiko Yasuda, Takatsugu Iwashita, Yosuke Tayama, Yuko Makino, Ayumu Watanabe, Tatsuro Sano, Taisuke Shimizu, Tomonari Ogawa, Koichi Kanozawa, Hajime Hasegawa
Hyponatremia presents with various central nervous system symptoms during its course and treatment. We treated a patient who presented with a prolonged consciousness disorder and was suspected of having complications of neuroleptic malignant syndrome and osmotic demyelination syndrome (ODS) during the treatment for his hyponatremia, which was caused by syndrome of inappropriate secretion of antidiuretic hormone (SIADH). The patient was a 30-year-old Japanese man who had been under treatment for schizophrenia...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#19
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28498071/assessment-of-malpractice-claims-due-to-spinal-epidural-abscess
#20
J Mason DePasse, Roy Ruttiman, Adam E M Eltorai, Mark A Palumbo, Alan H Daniels
OBJECTIVE Spinal epidural abscesses (SEAs) can be difficult to diagnose and may result in neurological compromise or even death. Delays in diagnosis or treatment may worsen the prognosis. While SEA presents a high risk for litigation, little is known about the medicolegal ramifications of this condition. An enhanced understanding of potential legal implications is important for practicing spine surgeons, emergency medicine physicians, and internists. METHODS The VerdictSearch database, a large legal-claims database, was queried for "epidural abscess"-related legal cases...
May 12, 2017: Journal of Neurosurgery. Spine
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