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https://www.readbyqxmd.com/read/28499831/resolution-of-hypertropia-with-correction-of-consecutive-horizontal-deviation
#1
Rui Hao, Kanxing Zhao, Wei Zhang
BACKGROUND: To study the resolution of hypertropia in patients who undergo horizontal deviation surgery for consecutive esotropia or consecutive exotropia. METHODS: We retrospectively reviewed the records of 23 patients with consecutive esotropia or exotropia who had concomitant vertical tropia. All patients had had surgery for horizontal deviation that required further surgery to correct consecutive horizontal strabismus and had a minimum of six months of postoperative follow-up...
May 9, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28479825/acute-bilateral-supranuclear-vertical-gaze-palsy-vertical-one-and-a-one-syndrome-report-of-three-cases
#2
Rohan R Mahale, Kiran Buddaraju, Anish Mehta, Mahendra Javali, Purushottam Acharya, Rangasetty Srinivasa
No abstract text is available yet for this article.
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28424453/comorbid-human-immunodeficiency-virus-hiv-and-muscle-specific-kinase-musk-myasthenia-gravis-a-case-report-and-literature-review
#3
Michael Sherpa, Ravi K Metai, Viki Kumar, Tinu Hirachan, Kawser U Ahmed, Sharon J Atkinson
BACKGROUND HIV infections with concomitant immunologically-mediated disorders have been frequently described but there has been little research on the association between HIV and myasthenia gravis. MuSK myasthenia gravis coexisting with HIV is an even a rarer entity and can occur as a part of immune restoration disease. We report the case of a patient with asymptomatic HIV infection who presented with new-onset MuSK myasthenia gravis. CASE REPORT A 44-year-old African-American woman with HIV since 2004 and on highly active antiretroviral therapy (HAART) presented to the ED with complains of double vision and difficulty swallowing for 2 weeks...
April 20, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28421028/adult-onset-niemann-pick-disease-type-c-rapid-treatment-initiation-advised-but-early-diagnosis-remains-difficult
#4
Tobias Piroth, Kai Boelmans, Florian Amtage, Michel Rijntjes, Anna Wierciochin, Thomas Musacchio, Cornelius Weiller, Jens Volkmann, Stephan Klebe
Niemann-Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the low frequency of NP-C, experience with this therapy is still limited. We describe two adult-onset cases of NP-C. In both cases, vertical supranuclear gaze palsy was not recognized at symptom onset...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28415165/progressive-supranuclear-gaze-palsy-with-predominant-cerebellar-ataxia-a-case-series-with-videos
#5
Zheyu Xu, Tchoyoson C C Lim, Wing Lok Au, Louis C S Tan
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2...
May 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28385472/gaba-spectra-and-remote-distractor-effect-in-progressive-supranuclear-palsy-a-pilot-study
#6
C Bonnet, J Rusz, J Hanuška, M Dezortová, F Jírů, T Sieger, R Jech, J Klempíř, J Roth, O Bezdíček, T Serranová, P Dušek, T Uher, C Flammand-Roze, M Hájek, E Růžička
Disturbances of the gamma-aminobutyric-acid (GABA) system have been suspected of contributing to the pathophysiology of progressive supranuclear palsy (PSP). The ability to rapidly resolve competitive action decisions, such as shifting the gaze to one particular stimulus rather than another, can be predicted by the concentration of GABA in the region of the frontal cortex relevant to eye movements. For this reason, our study measured GABA levels in seven PSP patients and eight healthy controls, using proton magnetic resonance spectroscopy, and assessed the relationship of these measurements to the remote distractor effect (RDE), an eye-movement paradigm investigating competitive action decisions...
April 3, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28376021/vertical-head-thrusting-in-acquired-supranuclear-vertical-ophthalmoplegia
#7
Yeon-Hee Lee, Seong-Hae Jeong, Hyo-Jung Kim, Jeong-Min Hwang, Woohyuk Lee, Ji-Soo Kim
Patients with congenital ocular motor apraxia (OMA) typically show head thrusts while attempting to shift gaze. In congenital OMA, this compensatory head motion mostly occurs in the horizontal plane. Two patients with acquired palsy of voluntary vertical gaze and continuous upward gaze deviation, one from aortic surgery and the other from multiple infarctions involving the mesodiencephalic junction, showed intermittent downward head thrusting to redirect the eyes straight ahead or downward. The head thrusting behavior improved markedly after surgical correction of the upward gaze deviation in one patient...
April 3, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28366647/adjustable-bilateral-superior-oblique-tendon-advancement-for-bilateral-fourth-nerve-palsy
#8
Bashar M Bata, David A Leske, Jonathan M Holmes
PURPOSE: Bilateral fourth nerve palsy may be symmetric or asymmetric with combined vertical and excylotropic deviations and so there may be an advantage to independent adjustment of vertical and torsional components. We report a surgical technique that allows such independent adjustment. DESIGN: Retrospective interventional case series. METHODS: 15 patients, age 17 to 73 years, underwent adjustable bilateral superior oblique tendon advancements for bilateral fourth nerve palsy (11 symmetric (≤2 prism diopters [pd] hyperdeviation in straight ahead gaze) and 4 asymmetric)...
March 30, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28362929/metastatic-liposarcoma-of-the-skull-base-a-case-report-and-review-of-literature
#9
Nirmeen Zagzoog, Greta Ra, Alex Koziarz, John Provias, Doron Sommer, Saleh A Almenawer, Kesava Reddy
BACKGROUND AND IMPORTANCE: Myxoid liposarcoma is not an uncommon form of sarcoma. However, it usually affects the lower extremity long bones. Scapular involvement is extremely rare, as is a metastasis to the parasellar region. We present a case of liposarcoma of the skull base originating in the scapular region and metastasizing to the sellar and parasellar regions and provide a review of the pertinent literature. CLINICAL PRESENTATION: A 43-year-old female patient diagnosed with left scapular myxoid liposarcoma was treated with surgical resection...
April 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28361069/posterior-reversible-encephalopathy-syndrome-associated-with-left-horizontal-gaze-palsy
#10
Amer Hawatmeh, Sarah Studyvin, Moh'd Al-Halawani, Sawsan Amireh, Mohammad Thawabi
Posterior reversible encephalopathy syndrome (PRES) is characterized by rapid onset of symptoms including headache, seizures, altered consciousness, and visual disturbance, as well as radiologic findings of focal reversible vasogenic edema. Multiple visual disturbances have been described in PRES, such as hemianopia, visual neglect, auras, visual hallucinations, and cortical blindness. However, horizontal gaze palsy has not been previously reported. We report a 72-year-old female who presented with blurred vision, severe headache, lethargy, and later developed seizures...
March 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28347678/one-and-a-half-syndrome-following-penetrating-head-injury-case-report
#11
Mathew R Voisin, Sanskriti Sasikumar, Jeremy H Russell, Gelareh Zadeh
The authors report a case of a 22-year-old otherwise healthy female who presented following a head injury during a bar altercation, with no associated loss of consciousness and an unknown mechanism of injury. Examination revealed an isolated 1cm laceration on the right upper eyelid, superior to her medial canthus. She experienced diplopia on right horizontal gaze due to a left internuclear ophthalmoplegia (INO) with an associated left conjugate horizontal gaze palsy, collectively described as a left one-and-a-half syndrome...
March 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28323148/results-of-combined-resection-recession-on-a-single-rectus-muscle-for-incomitant-deviations-an-alternative-to-the-posterior-fixation-suture
#12
Gill Roper-Hall, Oscar A Cruz
PURPOSE: To compare outcomes of combined resection and recession on previously unoperated single horizontal or vertical rectus muscles in consecutive adult patients with acquired incomitant deviations minimal in primary gaze and maximal in an eccentric gaze position. METHODS: The surgical goal was to decrease the incomitance by 50%, expand the field of binocular single vision, and relieve diplopia. Recessions for the maximal deviations were combined with smaller resections using hang-back, nonadjustable sutures...
April 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#13
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
March 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28292832/functional-organization-of-vestibulo-ocular-responses-in-abducens-motoneurons
#14
Haike Dietrich, Stefan Glasauer, Hans Straka
Vestibulo-ocular reflexes (VORs) are the dominating contributors to gaze stabilization in all vertebrates. During horizontal head movements, abducens motoneurons form the final element of the reflex arc that integrates visuovestibular inputs into temporally precise motor commands for the lateral rectus eye muscle. Here, we studied a possible differentiation of abducens motoneurons into subtypes by evaluating their morphology, discharge properties, and synaptic pharmacology in semi-intact in vitro preparations of larval Xenopus laevis Extracellular nerve recordings during sinusoidal head motion revealed a continuum of resting rates and activation thresholds during vestibular stimulation...
April 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#15
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
May 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28256434/pathologic-correlates-of-supranuclear-gaze-palsy-with-parkinsonism
#16
W R W Martin, J Hartlein, B A Racette, N Cairns, J S Perlmutter
INTRODUCTION: Supranuclear gaze palsy (SGP) is a classic clinical feature of progressive supranuclear palsy (PSP) but is not specific for this diagnosis and has been reported to occur in several other neurodegenerative parkinsonian conditions. Our objective was to evaluate the association between SGP and autopsy-proven diagnoses in a large population of patients with parkinsonism referred to a tertiary movement disorders clinic. METHODS: We reviewed clinical and autopsy data maintained in an electronic medical record from all patients seen in the Movement Disorders Clinic at Washington University, St...
May 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28254247/vertical-supranuclear-gaze-palsy-in-a-toddler-with-niemann-pick-type-c
#17
Tatiana Bremova, Michael Strupp
No abstract text is available yet for this article.
January 21, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28250456/biallelic-mutations-in-human-dcc-cause-developmental-split-brain-syndrome
#18
Saumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, Marie Drottar, Wai-Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N Lam, Mauricio R Delgado, Nancy J Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A Alorainy, Abdullah Abu Jamea, Khaled Abu-Amero, May Griebel, Wendy Ward, Ed S Lein, Kyriacos Markianos, A James Barkovich, Caroline D Robson, P Ellen Grant, Thomas M Bosley, Elizabeth C Engle, Christopher A Walsh, Timothy W Yu
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported...
April 2017: Nature Genetics
https://www.readbyqxmd.com/read/28247123/identification-of-characteristic-features-of-pineal-germinoma-that-enhance-accuracy-of-preoperative-differentiation-in-pineal-region-tumors-its-significance-on-optimum-surgical-treatment
#19
Akihiro Inoue, Takanori Ohnishi, Shohei Kohno, Shiro Ohue, Shinji Iwata, Shirabe Matsumoto, Masahiro Nishikawa, Saya Ozaki, Yosuke Mizuno, Riko Kitazawa, Takeharu Kunieda
The aim of the study is to identify characteristic features of pineal germinoma that enhance preoperative accuracy in differentiating germinoma from other pineal region tumors. Twenty-one consecutive patients with pineal region tumors were enrolled. In all patients, tumor resection was performed to verify the histology. Clinical records including upward gaze palsy of Parinaud's syndrome and neuroimaging were analyzed. In addition, we evaluated the relationship between magnetic resonance imaging (MRI) findings and tumor progression patterns in pineal germinoma...
March 1, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28196268/three-cases-of-exotropic-moebius-syndrome
#20
Abbas Bagheri, Mohaddese Feizi
Moebius syndrome is characterized by congenital facial palsy and limitation in horizontal gaze. The surgical results of the exotropic pattern are rare and have not been published before. The authors report three cases of exotropic Moebius syndrome. Maximal weakening of the lateral rectus muscles followed by strengthening of the medial recti in exotropic Moebius syndrome can improve exotropia significantly. Most of these cases also need some measures to relieve the often associated severe dry eye. [J Pediatr Ophthalmol Strabismus...
February 14, 2017: Journal of Pediatric Ophthalmology and Strabismus
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