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Find video protocols related to scientific articles indexed in Pubmed.
Intracranial Hypertension in Siblings with Infantile Hypercalcemia.
Neuropediatrics
PUBLISHED: 10-12-2014
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Background?Idiopathic intracranial hypertension is a clinical condition with elevated intracranial pressure of uncertain etiology. Although various underlying causes are suspected and familial occurrence has also been reported, however, it still remains an unexplained phenomenon. Case Report?We report the case of dizygotic siblings with a known CYP24A1 mutation resulting in chronic hypercalcemia and impairment of kidney function. At the same point in time both of them developed intracranial hypertension resistant to conservative therapy necessitating therefore ventriculoperitoneal shunt implantation. In both children magnetic resonance imaging showed slightly hypoplastic sinus transversus as the potential underlying cause. Conclusion?The simultaneous clinical presentation could be due to a genetic factor or might be a component of the underlying disease or the consequence of its treatment. Further cases and clinical experience are needed to clarify this issue.
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Airway complications in traumatic lower cervical spinal cord injury: A retrospective study.
J Spinal Cord Med
PUBLISHED: 08-12-2014
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Objective To investigate risk factors for pneumonia in patients with traumatic lower cervical spinal cord injury. Design Observational study, retrospective study. Setting Spinal cord unit in a maximum care hospital. Methods Thirty-seven patients with acute isolated traumatic spinal cord injury at levels C4-C8 and complete motor function injury (AIS A, B) treated from 2004 to 2010 met the criteria for inclusion in our retrospective analysis. The following parameters were considered: ventilation-specific parameters, re-intubation, creation of a tracheostomy, pneumonia, antibiotic treatment, and length of intensive care unit (ICU) stay and total hospitalization. Results Among the patients, 81% had primary invasive ventilation. In 78% of cases a tracheostomy was created; 3% of these cases were discharged with invasive ventilation and 28% with a tracheostomy without ventilation. Pneumonia according to Centers for Disease Control criteria occurred in 51% of cases within 21 ± 32 days of injury, and in 3% at a later date. The number of pre-existing conditions was significantly associated with pneumonia. Length of ICU stay was 25 ± 34 days, and average total hospital duration was 230 ± 144 days. Significant factors affecting the duration of ventilation were the number of pre-existing conditions and tetraplegia-specific complications. Conclusions Our results confirm that patients with traumatic lower cervical spinal cord injuries defined by lesion level and AIS constitute a homogeneous group. This group is characterized by a high rate of pneumonia during the first 4 weeks after injury. The number of pre-existing general conditions and spinal injury-specific comorbidities are the only risk factors identified for the development of pneumonia and/or duration of ventilation.
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Automated detection and evaluation of swallowing using a combined EMG/bioimpedance measurement system.
ScientificWorldJournal
PUBLISHED: 07-10-2014
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Developing an automated diagnostic and therapeutic instrument for treating swallowing disorders requires procedures able to reliably detect and evaluate a swallow. We tested a two-stage detection procedure based on a combined electromyography/bioimpedance (EMBI) measurement system. EMBI is able to detect swallows and distinguish them from similar movements in healthy test subjects.
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MR-Based Morphometry of the Posterior Fossa in Fetuses with Neural Tube Defects of the Spine.
PLoS ONE
PUBLISHED: 01-01-2014
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In cases of "spina bifida," a detailed prenatal imaging assessment of the exact morphology of neural tube defects (NTD) is often limited. Due to the diverse clinical prognosis and prenatal treatment options, imaging parameters that support the prenatal differentiation between open and closed neural tube defects (ONTDs and CNTDs) are required. This fetal MR study aims to evaluate the clivus-supraocciput angle (CSA) and the maximum transverse diameter of the posterior fossa (TDPF) as morphometric parameters to aid in the reliable diagnosis of either ONTDs or CNTDs.
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ROR?t? innate lymphoid cells acquire a proinflammatory program upon engagement of the activating receptor NKp44.
Immunity
PUBLISHED: 03-05-2013
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ROR?t? innate lymphoid cells (ILCs) are crucial players of innate immune responses and represent a major source of interleukin-22 (IL-22), which has an important role in mucosal homeostasis. The signals required by ROR?t? ILCs to express IL-22 and other cytokines have been elucidated only partially. Here we showed that ROR?t? ILCs can directly sense the environment by the engagement of the activating receptor NKp44. NKp44 triggering in ROR?t? ILCs selectively activated a coordinated proinflammatory program, including tumor necrosis factor (TNF), whereas cytokine stimulation preferentially induced IL-22 expression. However, combined engagement of NKp44 and cytokine receptors resulted in a strong synergistic effect. These data support the concept that NKp44? ROR?t? ILCs can be activated without cytokines and are able to switch between IL-22 or TNF production, depending on the triggering stimulus.
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Natalizumab therapy for highly active pediatric multiple sclerosis.
JAMA Neurol
PUBLISHED: 02-20-2013
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Given the high frequency of failure of first-line therapies, there is an urgent need for second-line treatment strategies for pediatric patients with multiple sclerosis (MS).
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Evaluation of an EMG bioimpedance measurement system for recording and analysing the pharyngeal phase of swallowing.
Eur Arch Otorhinolaryngol
PUBLISHED: 02-15-2013
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A neuroprosthetic device for treating swallowing disorders requires an implantable measurement system capable to analysing the timing and quality of the swallowing process in real time. A combined EMG bioimpedance (EMBI) measurement system was developed and is evaluated here. The study was planned and performed as a case-control study. The studies were approved by the Charité Berlin ethics committee in votes EA1/160/09 and EA1/161/09. Investigations were carried out on healthy volunteers in order to examine the usefulness and reproducibility of measurements, the ability to distinguish between swallowing and head movements and the effect of different food consistencies. The correlation between bioimpedance and anatomical and functional changes occurring during the pharyngeal phase of swallowing in non-healthy patients was examined using videofluoroscopy (VFSS). 31 healthy subjects (15?, 16?) were tested over the course of 1350 swallows and 19 (17?, 2?) non-healthy patients over the course of 54 swallows. The signal curves obtained from both transcutaneous and subcutaneous measurement were similar, characteristic and reproducible (r > 0.5) and correlated with anatomical and functional changes during the pharyngeal phase of swallowing observed using VFSS. Statistically significant differences between head movements and swallowing movements, food volumes and consistencies were found. Neither the conductivity of the food, the sex of the test subject nor the position of the measurement electrodes exerted a statistically significant effect on the measured signal. EMBI is able to reproducibly map the pharyngeal phase of swallowing and changes associated with it both transcutaneously and subcutaneously. The procedure therefore appears to be suitable for use in performing automated evaluation of the swallowing process and for use as a component of an implant.
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Multi-stage surgery for airway patency after metallic stent removal in benign laryngotracheal airway disease in two adolescents.
Int. J. Pediatr. Otorhinolaryngol.
PUBLISHED: 02-10-2013
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Laryngotracheal stents may damage the highly complex laryngeal structures, impair voice and swallowing functions and cause tissue ingrowths, thereby necessitating airway patency interventions. In benign airway disease, the number of adolescents with laryngotracheal stents is therefore limited. We present two cases of laryngeal metallic stent placement following benign airway disease. Two adolescents presented with severe dyspnea and self-expandable metallic stent placement after benign laryngotracheal stenoses. Granulation tissue ingrowths required additional surgical interventions every 6-8 weeks to recanalize the stent lumen. We performed multi-stage surgery including removal of the embedded stent, segmental resection of the stenotic area, end-to-end-anastomosis and laryngotracheal reconstruction respectively, to achieve patent airway without tracheal cannulation. Montgomery T-tubes were temporarily inserted to bridge the complex reconstructions. In both adolescents, we achieved successful removal of the embedded stent and patent airway. Bilateral vocal fold paralysis required additional surgery to improve the final airway patency and vocal rehabilitation. Stent removal, segmental resection and laryngotracheal reconstruction provide the achievement of patent airway and allow decannulation. Temporary Montgomery T-tubes bridge complex laryngotracheal reconstructions. In benign laryngeal airway disease, stent placement should be avoided, especially in adolescents. Transfer to a specialist center should be considered prior to metallic stent implantation. In general, self-expanding tracheobronchial stents can be placed in selected patients where surgical interventions are limited.
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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Eur J Med Genet
PUBLISHED: 02-04-2013
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Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation. Normal plasma sphingolipids were unchanged but 1-deoxy-sphingolipids were significantly elevated. In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome.
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Fetal eye movements on magnetic resonance imaging.
PLoS ONE
PUBLISHED: 01-01-2013
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Eye movements are the physical expression of upper fetal brainstem function. Our aim was to identify and differentiate specific types of fetal eye movement patterns using dynamic MRI sequences. Their occurrence as well as the presence of conjugated eyeball motion and consistently parallel eyeball position was systematically analyzed.
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The effect of pulling out cochlear implant electrodes on inner ear microstructures: a temporal bone study.
Int J Otolaryngol
PUBLISHED: 07-07-2011
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The exchange of an cochlear implant or the re-positioning of an electrode have become more frequently required than a decade ago. The consequences of such procedures at a microstructural level within the cochlea are not known. It was the aim of the present study to further investigate the effects of an CI electrode pull-out. Therefore 10 freshly harvested temporal bones (TB) were histologically evaluated after a cochlear implant electrode pull-out of a perimodiolar electrode. In additional 9 TB the intrascalar movements of the CI electrode while being pulled-out were digitally analysed by video- capturing. Histologically, a disruption of the modiolar wall or the spiral osseous lamina were not observed. In one TB, a basilar membrane lifting up was found, but it could not be undoubtedly attributed to the pull-out of the electrode. When analyzing the temporal sequence of the electrode movement during the pull-out, the electrode turned in one case so that the tip elevates the basilar membrane. The pull- out of perimodiolarly placed CI electrodes does not damage the modiolar wall at a microstructural level and should be guided (e.g., forceps) to prevent a 90 o turning of the electrode tip into the direction of the basilar membrane.
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MRI scanning in patients implanted with a Vibrant Soundbridge.
Laryngoscope
PUBLISHED: 02-11-2011
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To observe the in vivo effects of MRI scanning on the Vibrant Soundbridge system.
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The semisolid bolus swallow test for clinical diagnosis of oropharyngeal dysphagia: a prospective randomised study.
Eur Arch Otorhinolaryngol
PUBLISHED: 01-28-2011
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Contrary to clinical experience, clinical swallow tests are predominantly performed using water (water swallow tests, WST). In this study, we examine whether swallow tests performed using a bolus of semisolid food (bolus swallow test, BST) offer benefits. In a prospective, randomised, blind study, the results of a standardised saliva swallow test (SST), WST, BST, combinations of these tests and an endoscopic swallow test (FEES) in patients with oropharyngeal swallowing disorders of neurological (NEU) and non-neurological (NNEU) origin were compared. Sensitivity, specificity, test accuracy and inter-rater reliability were analysed. 62 patients (mean age = 64.68; range = 22-84) were included in the study (NEU = 40; NNEU = 22). A sensitivity of 70.7% (NEU = 70.3%, NNEU = 71.4%) and specificity of 82.5% (NEU = 92.3%; NNEU = 100%) were determined for the WST. The BST + SST was found to have a sensitivity of 89.6% (NEU = 66.7%; NNEU = 90.9%) and a specificity of 72.7% (NEU = 87.5%; NNEU = 90.9%). Analysis of test accuracy showed a statistically significant correlation between FEES and BST + SST. Only BST + SST exhibited statistically significant inter-rater reliability. BST in combination with SST was the sensitive clinical instrument for detecting aspiration both over the patient population as a whole and over the two sub-populations. Inter-rater reliability was found to be statistically significant. The results presented here demonstrate the benefit of semisolid food in investigating clinical dysphagia.
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Selection and placement of oral ventilation tubes based on tracheal morphometry.
Laryngoscope
PUBLISHED: 01-14-2011
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Evidence-based guidelines for the selection of appropriately sized ventilation tubes as well as their placement do not exist, although iatrogenic injuries to the trachea and larynx following endotracheal intubation are not infrequent. Our objective was to provide selection recommendations for ventilation tubes based on anatomic criteria.
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Survival with Rett syndrome: comparing Retts original sample with data from the Australian Rett Syndrome Database.
Dev Med Child Neurol
PUBLISHED: 06-22-2010
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rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females.
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Vestibular and taste disorders after bilateral cochlear implantation.
Eur Arch Otorhinolaryngol
PUBLISHED: 06-17-2010
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The objective of this study was to investigate the occurrence of vestibular receptor deficiency and taste disorders after bilateral cochlear implantation in postlingually deafened patients and to find out whether the risk for these complications is higher for the second implantation. In a retrospective cohort study, we examined 20 patients (11-58 years, mean age 41.5 years), implanted sequentially between 2000 and 2007 (mean period between cochlear implantation 32.9 ± 25 months). Pre- and postoperative vestibular testing was performed by subjective rating [Dizziness Handicap Inventory (DHI)], caloric irrigation [vestibuloocular reflex (VOR)] and by vestibular-evoked myogenic potential (VEMP) recordings for saccular function. The sense of taste was evaluated pre- and postoperatively by a questionnaire and testing (sour/sweet/bitter/salty bilaterally on the tongue). DHI evaluation showed a moderate not significant mean increase by 2.7 ± 7.7 SD points after the first and a significant increase by 9.4 ± 16.6 SD points after the second implantation. Ipsilateral VEMP responses disappeared in three ears (27.3%) after the first and in two ears (18.2%) after the second operation. VOR disappeared only once (5.9%) after the first implantation. One (5%) patient complained of a persisting disturbance of taste in the questionnaire after unilateral and 3 (15%) after bilateral implantation. Specific testing showed in one case (5%) a unilateral taste disorder after ipsilateral cochlear implantation. Our data show that there is a higher risk for subjective vertigo after the second implantation. The occurrence of unilateral and/or bilateral vestibular dysfunction and the potential risk of taste disorder should be included in the risk counseling before bilateral cochlear implantation to increase patients and medicolegal safety in the decision-making process.
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Pseudarthroses of the cornu of the thyroid cartilage.
Otolaryngol Head Neck Surg
PUBLISHED: 02-10-2010
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Injuries to the cartilaginous larynx are rare disorders that usually undergo good spontaneous healing and rarely require surgery.
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Airway management in acute tetraplegics: a retrospective study.
Eur Spine J
PUBLISHED: 01-24-2010
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The objective of this study was to develop an evidence-based airway management protocol for patients with acute tetraplegia. The method consisted of an analysis of the medical records of patients (September 1997-December 2002) with a spinal cord injury and a neurological deficit less than 8 weeks old. Of the 175 patients, 72 (41, 14%) were tracheotomised. This was influenced by the origin of the paralysis, Frankel score, and number of cervical spine operations, accompanying injuries and accompanying illnesses. Tracheotomy did not affect the duration of treatment, duration of ventilation or length of stay in the intensive care unit. The need for a tracheotomy was able to be predicted in 73.31% with neurological level, Frankel score and severity of accompanying injuries. In patients with acute tetraplegia, primary tracheotomy is indicated in sub C1-C3 with Frankel stage A/B, sub C4-C6 with Frankel stage A/B with trauma and accompanying injuries/accompanying illnesses, and in patients with complex cervical spine trauma that requires a combined surgical approach. In other patients, an attempt at extubation should be made.
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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Eur. J. Hum. Genet.
PUBLISHED: 03-04-2009
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Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction beta1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth disease (CMT). A large number of mutations in these genes are listed in databases. Sequence variants identified in patients are frequently reported as mutations without further evaluation. We analyzed 250 consecutively recruited unrelated Austrian CMT patients for CMT1Adup by microsatellite marker typing, real-time PCR or MLPA, and found 79 duplications (31.6%). The coding regions of the PMP22, MPZ and GJB1 genes were analyzed by direct sequencing in the remaining patients; 28 patients showed mutations, 14 of which were novel. We scored the pathogenicity of novel missense mutations by segregation studies and by their exclusion in control samples. Our comprehensive literature study found that up to 60% of the reported mutations in these genes had not been evaluated regarding their pathogenicity, and the PANTHER bioinformatics tool was used to score novel and published missense variants. The PANTHER program scored known polymorphisms as such, but scored approximately 82-88% only of the published and novel mutations as most likely deleterious. Mutations associated with axonal CMT were less likely to be classified as deleterious, and the PMP22 S72L mutation repeatedly associated with severe CMT was classified as a polymorphism using default parameters. Our data suggest that this in silico analysis tool could be useful for assessing the functional impact of DNA variations only as a complementary approach. The CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds.
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Iatrogenic tracheal rupture in children: A retrospective study.
Laryngoscope
PUBLISHED: 01-23-2009
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Iatrogenic injuries to the trachea are rare, but life-threatening complaints. Causes and treatment methods have been described for adults, but there is no literature on aetiology and treatment in children. We performed a retrospective study to examine the frequency, aetiology, and treatment of iatrogenic injuries to the trachea in children and to develop guidelines for their treatment and prevention.
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Advances to electrode pullback in cochlear implant surgery.
ScientificWorldJournal
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To observe the intracochlear behavior of a cochlear implant electrode insertion technique (called "pullback") in temporal bones. Study Design. Experimental. Settings. Tertiary referral center.
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Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients.
Mult. Scler.
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Some pediatric patients with inflammatory demyelinating central nervous system disorders cannot be classified under any of the established disease entities, making their treatment and prognosis difficult.
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Evaluation of the 2010 McDonald multiple sclerosis criteria in children with a clinically isolated syndrome.
Mult. Scler.
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Magnetic resonance imaging diagnostic criteria for paediatric multiple sclerosis have been established on the basis of brain imaging findings alone. The 2010 McDonald criteria for the diagnosis of multiple sclerosis, however, include spinal cord imaging for detection of lesion dissemination in space. The new criteria have been recommended in paediatric multiple sclerosis.
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Sound-induced vertigo after cochlear implantation.
Otol. Neurotol.
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Postoperative vertigo is a well-known complication after cochlear implantation. The aim of the study was to investigate whether the electrical stimulation of the auditory structures via cochlear implant electrodes can affect the vestibular system and induce vertigo.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

Video X seems to be unrelated to Abstract Y...

In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.