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Quadriplegia

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https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#1
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326313/lung-volume-recruitment-acutely-increases-respiratory-system-compliance-in-individuals-with-severe-respiratory-muscle-weakness
#2
Yannick Molgat-Seon, Liam M Hannan, Paolo B Dominelli, Carli M Peters, Renee J Fougere, Douglas A McKim, A William Sheel, Jeremy D Road
The aim of the present study was to determine whether lung volume recruitment (LVR) acutely increases respiratory system compliance (Crs) in individuals with severe respiratory muscle weakness (RMW). Individuals with RMW resulting from neuromuscular disease or quadriplegia (n=12) and healthy controls (n=12) underwent pulmonary function testing and the measurement of Crs at baseline, immediately after, 1 h after and 2 h after a single standardised session of LVR. The LVR session involved 10 consecutive supramaximal lung inflations with a manual resuscitation bag to the highest tolerable mouth pressure or a maximum of 50 cmH2O...
January 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28324264/reverse-locked-in-syndrome
#3
Pooja Raibagkar, Ram V Chavali, Tamara B Kaplan, Jennifer A Kim, Meaghan V Nitka, Sherry H-Y Chou, Brian L Edlow
BACKGROUND: Basilar artery occlusion can cause locked-in syndrome, which is characterized by quadriplegia, anarthria, and limited communication via eye movements. Here, we describe an uncommon stroke syndrome associated with endovascular recanalization of the top of the basilar artery: "reverse locked-in syndrome." METHODS: We report the case of a patient with atypical neurological deficits caused by acute ischemic stroke of the midbrain tegmentum. We perform neuroanatomic localization of the patient's infarcts by mapping the magnetic resonance imaging (MRI) data onto a brainstem atlas...
March 21, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28322177/prevalence-estimate-of-cerebral-palsy-in-northern-alberta-births-2008-2010
#4
Charlene M T Robertson, M Florencia Ricci, Kathleen O'Grady, Maryam Oskoui, Helly Goez, Jerome Y Yager, John C Andersen
OBJECTIVES: The objectives of this study were to determine prevalence estimates of cerebral palsy (CP) among 5-year-old children in northern Alberta; to provide congenital, gestational age- and birth weight-specific, and postneonatal CP rates; and to describe motor subtypes and function. METHODS: This population-based prevalence estimate study, part of the Canadian Cerebral Palsy Registry, reports confirmed CP diagnoses at age 5 years made by pediatric rehabilitation and child neurology specialists...
March 21, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28302996/spinal-cord-ischemia-secondary-to-epidural-metastasis-from-small-cell-lung-carcinoma
#5
Hirotoshi Yasui, Naoya Ozawa, Satoshi Mikami, Kenji Shimizu, Takahiro Hatta, Nami Makino, Mayu Fukushima, Satoshi Baba, Yasushi Makino
BACKGROUND Spinal cord ischemia is an uncommon event that is mainly caused by dissociation of the ascending aorta as a complication after aortic surgery. Spinal arteries can develop collateral circulation; therefore, the frequency of spinal infarction is about 1% of that in the brain. Few cases of spinal cord ischemia developing in the course of lung cancer have been reported. CASE REPORT We presented the case of a 56-year-old man with small cell lung carcinoma, cT4N2M1a (stage IV). He was treated with irradiation and 2 courses of platinum and etoposide combination chemotherapy...
March 17, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28301868/quadriplegia-due-to-injury-of-corticofugal-tracts-from-secondary-motor-area-in-a-patient-with-severe-traumatic-brain-injury
#6
Sung Ho Jang, Seong Ho Kim, Han Do Lee
No abstract text is available yet for this article.
April 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28268963/big-data-challenges-in-decoding-cortical-activity-in-a-human-with-quadriplegia-to-inform-a-brain-computer-interface
#7
David A Friedenberg, Chad E Bouton, Nicholas V Annetta, Nicholas Skomrock, Mingming Zhang, Michael Schwemmer, Marcia A Bockbrader, W Jerry Mysiw, Ali R Rezai, Herbert S Bresler, Gaurav Sharma
Recent advances in Brain Computer Interfaces (BCIs) have created hope that one day paralyzed patients will be able to regain control of their paralyzed limbs. As part of an ongoing clinical study, we have implanted a 96-electrode Utah array in the motor cortex of a paralyzed human. The array generates almost 3 million data points from the brain every second. This presents several big data challenges towards developing algorithms that should not only process the data in real-time (for the BCI to be responsive) but are also robust to temporal variations and non-stationarities in the sensor data...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28253262/voluntary-activation-of-biceps-to-triceps-and-deltoid-to-triceps-transfers-in-quadriplegia
#8
Carrie L Peterson, Michael S Bednar, Anne M Bryden, Michael W Keith, Eric J Perreault, Wendy M Murray
The biceps or the posterior deltoid can be transferred to improve elbow extension function for many individuals with C5 or C6 quadriplegia. Maximum strength after elbow reconstruction is variable; the patient's ability to voluntarily activate the transferred muscle to extend the elbow may contribute to the variability. We compared voluntary activation during maximum isometric elbow extension following biceps transfer (n = 5) and deltoid transfer (n = 6) in three functional postures. Voluntary activation was computed as the elbow extension moment generated during maximum voluntary effort divided by the moment generated with full activation, which was estimated via electrical stimulation...
2017: PloS One
https://www.readbyqxmd.com/read/28250116/a-neonatal-murine-model-of-coxsackievirus-a6-infection-for-evaluation-of-antiviral-and-vaccine-efficacy
#9
Zhenjie Zhang, Zhaopeng Dong, Qingjuan Wei, Michael J Carr, Juan Li, Shujun Ding, Yigang Tong, Dong Li, Weifeng Shi
Hand, foot and mouth disease (HFMD) is a global health concern. Family Picornaviridae members, particularly enterovirus 71 (EVA71) and Coxsackievirus A16 (CVA16), are the primary etiological agents of HFMD, however, a third enterovirus A species, CoxsackievirusA6 (CVA6), has been recently associated with epidemic outbreaks. Study of the pathogenesis of CVA6 infection and development of antivirals and vaccines are hindered due to the lack of appropriate animal models. We have developed and characterized a murine model of CVA6 infection which was employed to evaluate the antiviral activities of different drugs and the protective efficacies of CVA6-inactivated vaccines...
March 1, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28227170/big-data-challenges-in-decoding-cortical-activity-in-a-human-with-quadriplegia-to-inform-a-brain-computer-interface
#10
David A Friedenberg, Chad E Bouton, Nicholas V Annetta, Nicholas Skomrock, Mingming Zhang, Michael Schwemmer, Marcia A Bockbrader, W Jerry Mysiw, Ali R Rezai, Herbert S Bresler, Gaurav Sharma, David A Friedenberg, Chad E Bouton, Nicholas V Annetta, Nicholas Skomrock, Mingming Zhang, Michael Schwemmer, Marcia A Bockbrader, W Jerry Mysiw, Ali R Rezai, Herbert S Bresler, Gaurav Sharma, Nicholas Skomrock, David A Friedenberg, Marcia A Bockbrader, Chad E Bouton, Ali R Rezai, Mingming Zhang, Herbert S Bresler, Gaurav Sharma, W Jerry Mysiw, Nicholas V Annetta, Michael Schwemmer
Recent advances in Brain Computer Interfaces (BCIs) have created hope that one day paralyzed patients will be able to regain control of their paralyzed limbs. As part of an ongoing clinical study, we have implanted a 96-electrode Utah array in the motor cortex of a paralyzed human. The array generates almost 3 million data points from the brain every second. This presents several big data challenges towards developing algorithms that should not only process the data in real-time (for the BCI to be responsive) but are also robust to temporal variations and non-stationarities in the sensor data...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225879/high-cervical-spine-spondylodiscitis-management-and-literature-review
#11
André Luis Sebben, Xavier Soler Graells, Marcel Luiz Benato, Pedro Grein Del Santoro, Álynson Larocca Kulcheski
Spondylodiscitis affecting the cervical spine is the most unusual type. Disease progression can be dramatic, even causing quadriplegia and death. We present an unusual case that progressed with osteolytic lesions between C2 and C3, causing cord compression and epidural abscess. The patient was treated surgically by a double approach and improved without neurological deficits and with better inflammatory markers. We reviewed the current literature on the subject.
January 1, 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28202707/cadasil-accelerated-by-acute-hypotension-arterial-and-venous-contribution-to-leukoaraiosis
#12
Jacqueline A Pettersen, Julia Keith, Fuqiang Gao, J David Spence, Sandra E Black
OBJECTIVE: To underline the importance of blood pressure regulation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to describe changes that occur in the veins in this condition, specifically venous collagenosis associated with leukoaraiosis. METHODS: Case report with neuroimaging and pathologic data. RESULTS: A 61-year-old man with genetically confirmed CADASIL was initially lucid following a motor vehicle accident but subsequently became hypotensive (60/40 mm Hg) due to an open femur fracture and required intubation...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28133555/familial-case-of-pelizaeus-merzbacher-disorder-detected-by-oligoarray-comparative-genomic-hybridization-genotype-to-phenotype-diagnosis
#13
Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28131160/wisdom-from-a-chair-thirty-years-of-quadriplegia-a-memoir-by-andrew-i-batavia-and-mitchell-batavia
#14
Ruth W Brannon
No abstract text is available yet for this article.
February 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28113307/variability-analysis-on-gestures-for-people-with-quadriplegia
#15
Hairong Jiang, Bradley S Duerstock, Juan P Wachs
Gesture-based interfaces have become an effective control modality within the human computer interaction realm to assist individuals with mobility impairments in accessing technologies for daily living to entertainment. Recent studies have shown that gesture-based interfaces in tandem with gaming consoles are being used to complement physical therapies at rehabilitation hospitals and in their homes. Because the motor movements of individuals with physical impairments are different from persons without disabilities, the gesture sets required to operate those interfaces must be customized...
December 26, 2016: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28100863/-utility-of-intraoperative-catheter-myelography-during-intrathecal-baclofen-pump-implantation-report-of-2-cases
#16
Soichiro Takamiya, Toru Sasamori, Shuji Hamauchi, Toshitaka Seki, Takahiro Kano, Ichiro Yabe, Hidenao Sasaki, Kiyohiro Houkin
We report two patients in whom the intrathecal baclofen(ITB)catheter was located in the subdural space, although we had confirmed good outflow of spinal fluid from the spinal catheter. Patient 1 was a woman in her 30s with spastic quadriplegia due to subarachnoid hemorrhage. An ITB pump was implanted, and a good outflow of spinal fluid from the spinal catheter was observed during the surgery. Postoperatively, her spasticity did not improve. Catheter myelography revealed that the spinal catheter was located in the subdural space...
January 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28068970/quadriplegia-caused-by-an-epidural-abscess-occurring-at-the-same-level-of-cervical-destructive-spondyloarthropathy-a-case-report
#17
Jun-Seok Lee, Ji-Hyun Ryu, Jong-Tae Park, Ki-Won Kim
BACKGROUND: Destructive spondyloarthropathy (DSA) is one of the major complications in patients undergoing long-term hemodialysis. To the best of our knowledge, an epidural abscess occurring at the level of preexisting cervical DSA has not been well described in the literature. We report a unique case of quadriplegia caused by an epidural abscess occurring at the same level of preexisting cervical DSA. CASE PRESENTATION: A 49-year-old woman was transferred to our emergency department with 5 days of sepsis, drowsy mental status, and quadriplegia below the C5 level...
January 10, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28028597/intra-and-inter-observer-reliability-of-determining-degree-of-pelvic-obliquity-in-neuromuscular-scoliosis-using-the-eos-chair%C3%A2-protocol
#18
Jihane Rouissi, Robin Arvieu, Arnaud Dubory, Claudio Vergari, Manon Bachy, Raphaël Vialle
PURPOSE: Scoliosis with pelvic obliquity (PO) could be investigated with the EOS-CHAIR protocol as the most common deformity especially in patients with trunk hypotonia and quadriplegia. However, the intra-observer and inter-observer reliability of various angles assessing PO was not investigated with this new imaging protocol. METHODS: A retrospective cohort of 36 EOS frontal full-spine acquisitions made in sitting position was used. The sacroiliac pelvic obliquity angle, iliac crest pelvic obliquity angle, and ischiatic pelvic obliquity angle were assessed in an intra-observer and inter-observer study...
December 27, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28005804/permanent-quadriplegia-following-replacement-of-voice-prosthesis
#19
Kayhan Ozturk, Omer Erdur, Ertugrul Kibar
The authors presented a patient with quadriplegia caused by cervical spine abscess following voice prosthesis replacement. The authors present the first reported permanent quadriplegia patient caused by voice prosthesis replacement. The authors wanted to emphasize that life-threatening complications may be faced during the replacement of voice prosthesis. Care should be taken during the replacement of voice prosthesis and if some problems have been faced during the procedure patients must be followed closely...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27974931/the-benefits-of-a-comprehensive-rehabilitation-program-in-patients-diagnosed-with-spastic-quadriplegia
#20
O C Rogoveanu, N C Tuțescu, D Kamal, D O Alexandru, C Kamal, C T Streba, M R Trăistaru
Spastic quadriplegia has as an etiopathogenic substrate, a non-progressive brain lesion; however, the clinical manifestations of the disease evolve over time. Children diagnosed with spastic quadriplegia show a variety of symptoms in different areas: sensorimotor, emotional, cognitive, and social. The purpose of this study was to assess the functional status in patients diagnosed with spastic quadriplegia, who followed a complex medical rehabilitation program, during a year, and highlight the importance of using physical and kinetic techniques in improving their status...
July 2016: Journal of Medicine and Life
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