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https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#1
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820279/mri-and-clinical-characteristics-of-suspected-cerebrovascular-accident-in-nine-cats
#2
Danielle E Whittaker, Randi Drees, Elsa Beltran
Objectives Cerebrovascular accidents (CVAs) are infrequently reported in cats. To date, clinical characteristics, including lesion localisation and MRI findings, have only been reported in two cats. The aim of the current study is to document MRI findings in cats presenting with CVAs over an 11 year period. Cases were reviewed according to initial clinical presentation, subsequent physical and neurological findings, predisposing systemic disease and short- and long-term (when available) outcome with a view to identifying any typical pattern in disease occurrence...
August 1, 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28820047/reversal-of-spinal-cord-ischemia-following-endovascular-thoracic-aortic-aneurysm-repair-with-hyperbaric-oxygen-and-therapeutic-hypothermia
#3
Emmanuel Urquieta, Joseph Varon, Peter H Lin
BACKGROUND: Neurological adverse events with spinal cord ischemia (SCI) remain one of the most feared complications in patients undergoing thoracic endovascular aortic repair (TEVAR). These patients can develop irreversible paraplegia with lifelong consequences with physical and psychological agony. CASE PRESENTATION: We herein present a patient who developed SCI with bilateral lower leg paraplegia on the third postoperative day following TEVAR. Spinal catheter was inserted for spinal fluid drainage...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28819602/fracture-dislocation-of-shoulder-with-brachial-plexus-palsy-a-case-report-and-review-of-management-options
#4
Sameer Rathore, Srinivas Kasha, Srinivas Yeggana
INTRODUCTION: Injuries causing fracture dislocation of shoulder and brachial plexus palsy are extremely rare. As per authors' knowledge, three part fracture of proximal humerus with shoulder dislocation and brachial plexus palsy has not been reported in the literature. CASE PRESENTATION: A 53 year old female sustained a three part fracture of right proximal humerus along with dislocation of shoulder joint and brachial plexus palsy following a fall from a flight of stairs...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28819512/-spontaneous-bilateral-carotid-cavernous-fistulas-about-a-case-and-review-of-the-literature
#5
Adil Belhachmi
We report a clinical case of spontaneous bilateral carotid-cavernous fistulas. Bilateral pulsatile exophthalmos and symmetric cavernous sinuses detected by CT scan helped to suspect the diagnosis. Arteriography confirmed the diagnosis. The patient underwent embolization with favorable neurologic and ophthalmic evolution. Carotid-cavernous fistula is a rare but severe complication associated with a poor functional (blindness) and vital (meningeal and intracerebral hemorrhage) prognosis. The concomitant use of arteriography and embolization has considerably improved the prognosis...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28819047/unusual-case-of-bilateral-hand-weakness
#6
Sayan Datta, Jeremy Cosgrove, Taimour Alam, Helen L Ford
A 35-year-old man presented with myalgia and bilateral hand weakness, 3 days after the onset of lethargy, fevers and rigours. The hand weakness caused functional impairment including difficulty pressing keys on his mobile phone. On examination, there was mild bilateral hand weakness with normal reflexes. His serum creatine kinase was mildly raised at 503 U/L (24-195), viral PCR throat swab was negative and electromyogram showed subtle myopathic changes in the distal forearm muscles. Nerve conduction studies found no evidence of neuropathy...
August 17, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28818147/attention-deficit-hyperactivity-disorder-and-fatal-accidents-in-aviation-medicine
#7
Tanja Laukkala, Robert Bor, Bruce Budowle, Antti Sajantila, Pooshan Navathe, Markku Sainio, Alpo Vuorio
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder with symptoms of inattention and/or hyperactivity-impulsivity that interfere with functioning and/or development. ADHD occurs in about 2.5% of adults. ADHD can be an excluding medical condition among pilots due to the risk of attentional degradation and therefore impact on flight safety. Diagnosis of ADHD is complex, which complicates aeromedical assessment. This study highlights fatal accident cases among pilots with ADHD and discusses protocols to detect its presence to help to assess its importance to flight safety...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28818085/a-rare-case-of-acute-toxoplasmosis-in-a-stray-dog-due-to-infection-of-t-gondii-clonal-type-i-public-health-concern-in-urban-settings-with-stray-animals
#8
Sergio Migliore, Salvatore La Marca, Cristian Stabile, Vincenzo Di Marco Lo Presti, Maria Vitale
BACKGROUND: Typing of Toxoplasma gondii strains is important in epidemiological surveys, to understand the distribution and virulence of different clones of the parasite among human and animal populations. Stray dogs can be consider sentinel animals for contaminated environments playing an important but probably under- evaluated role in the epidemiology of T. gondii. We reported a rare case of acute toxoplasmosis in a stray dog due to clonal type I infection. The clonal type I, sporadic in Europe, is frequently associated with severe toxoplasmosis in humans and the control of its circulation is particularly relevant for public health...
August 17, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28816935/perimesencephalic-nonaneurysmal-subarachnoid-hemorrhage-caused-by-transverse-sinus-thrombosis-a-case-report-and-review-of-literature
#9
Fang-Wang Fu, Jie Rao, Yuan-Yuan Zheng, Liang Song, Wei Chen, Qi-Hui Zhou, Jian-Guang Yang, Jiang-Qiong Ke, Guo-Qing Zheng
RATIONALE: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Intracranial venous hypertension has been considered as the pivotal factor in the pathogenesis of PNSAH...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816877/fractures-in-spinal-ankylosing-disorders-a-narrative-review-of-disease-and-injury-types-treatment-techniques-and-outcomes
#10
Tarush Rustagi, Doniel Drazin, Cumhur Oner, Jonathan York, Gregory D Schroeder, Alexander R Vaccaro, Rod J Oskouian, Jens R Chapman
INTRODUCTION: Spinal ankylosing disorders encompass ankylosing spondylitis (AS), disseminated hyperostosis of the spine, and end-stage spondylosis. All these result in a stiffened and frequently deformed spinal column. This makes the spinal column highly susceptible to severe injuries that are commonly associated with unfavorable outcomes. Improved understanding of the underlying disease processes and clinical comorbidities may alter the poor injury related morbidity and mortality outcomes...
September 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28816830/fatal-cerebral-edema-seizures-and-hyponatremia-after-trazodone-overdose
#11
Jose David Avila
Trazodone is a serotonin antagonist and reuptake inhibitor that is widely used for the treatment of depression and insomnia. Fatal overdose is rare and usually occurs when combined with other drugs or alcohol. Only a few lethal cases of pure trazodone overdose have been reported, all attributed to cardiotoxicity. We reported a 37-year-old woman who presented after ingesting 6.45 g of trazodone in a suicidal attempt. She was hyponatremic because of the syndrome of inappropriate antidiuretic hormone secretion and, shortly after, had a seizure and developed fatal cerebral edema...
August 14, 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#12
Eduardo López-Corella, Isabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Á Rodríguez-Weber, Sara Guillén-Lopez, Leticia Belmont-Martínez, David Agüero-Linares, Marcela Vela-Amieva
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...
August 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28815428/the-pharmacology-and-toxicology-of-third-generation-anticonvulsant-drugs
#13
REVIEW
Paul LaPenna, Laura M Tormoehlen
Epilepsy is a neurologic disorder affecting approximately 50 million people worldwide, or about 0.7% of the population [1]. Thus, the use of anticonvulsant drugs in the treatment of epilepsy is common and widespread. There are three generations of anticonvulsant drugs, categorized by the year in which they were developed and released. The aim of this review is to discuss the pharmacokinetics, drug-drug interactions, and adverse events of the third generation of anticonvulsant drugs. Where available, overdose data will be included...
August 16, 2017: Journal of Medical Toxicology: Official Journal of the American College of Medical Toxicology
https://www.readbyqxmd.com/read/28815357/carbon-fiber-reinforced-peek-fixation-system-in-the-treatment-of-spine-tumors-a-preliminary-report
#14
Stefano Boriani, Giuseppe Tedesco, Lu Ming, Riccardo Ghermandi, Maurizio Amichetti, Piero Fossati, Marco Krengli, Loredana Mavilla, Alessandro Gasbarrini
BACKGROUND: Protocols including combination of surgery and radiotherapy are more and more frequent in the treatment of bone tumors of the spine. In metastatic disease, combination of surgery and radiotherapy is since long time accepted, as based on clinical evidence. In primary tumors, combination of surgery and radiotherapy can be considered in all the cases in which a satisfactory oncological margin cannot be achieved: high-grade malignancies, recurrent tumors, huge tumors expanding in an extracompartimental area, and when tumor-free margin requires unacceptable functional sacrifices...
August 16, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28814874/la-belle-indiff%C3%A3-rence-revisited-a-case-report-on-progressive-supranuclear-palsy-misdiagnosed-as-conversion-disorder
#15
Petra J van Meerkerk-Aanen, Lars de Vroege, David Khasho, Aziza Foruz, J Thies van Asseldonk, Christina M van der Feltz-Cornelis
BACKGROUND: Since the advent of computed tomography and magnetic resonance imaging scans, neurological disorders have less often been falsely labeled as conversion disorder (CD). However, misdiagnosis of a neurological disorder as CD still occurs, especially in cases with insidious onset. Misinterpretation of la belle indifférence may contribute to such misdiagnosis. Here, we describe a case of progressive supranuclear palsy/Richardson's syndrome (PSPS) misdiagnosed as a case of CD. CASE: A 62-year-old woman consulted two different neurologists in 2012 because of falling spells since 2009 and was diagnosed with CD...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28814594/concomitant-carotid-aplasia-and-basilar-artery-occlusion-in-a-child-with-phaces-syndrome
#16
Noel Delgado, Jason J Carroll, Philip M Meyers
We report a case of an 8-year-old girl with posterior fossa abnormalities, haemangioma, arterial lesions, cardiac abnormalities or coarctation of the aorta and eye abnormalities syndrome with right carotid aplasia and complete basilar occlusion. The patient initially presented at 2.5 weeks of age with a growing right facial haemangioma involving segments 1, 3 and 4. Initial MRI at 2.5 weeks of age revealed an extraconal right orbital haemangioma without posterior fossa abnormalities and MR angiography (MRA) 3 weeks later showed right internal carotid aplasia...
August 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28813773/a-case-of-ivig-induced-aseptic-chemical-meningitis
#17
Anish Patel, Kalyan Chakravarthy Potu, Tamera Sturm
Intravenous immunoglobulin (IVIG) is a commonly used and generally well-tolerated medication. Common side effects include flu-like symptoms such as fevers, headaches, myalgia, fatigue, and nausea. One of the more rare side effects is aseptic meningitis, with a reported incidence rate of around 0.067 percent of all IVIG infusions. In this paper, we describe a 47-year-old female patient with a history of myasthenia gravis who presented with a headache, neck pain, and neck stiffness while undergoing IVIG infusions for a myasthenia crisis...
March 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28813460/mechanisms-for-pattern-specificity-of-deep-brain-stimulation-in-parkinson-s-disease
#18
Osvaldo Matías Velarde, Germán Mato, Damián Dellavale
Deep brain stimulation (DBS) has become a widely used technique for treating advanced stages of neurological and psychiatric illness. In the case of motor disorders related to basal ganglia (BG) dysfunction, several mechanisms of action for the DBS therapy have been identified which might be involved simultaneously or in sequence. However, the identification of a common key mechanism underlying the clinical relevant DBS configurations has remained elusive due to the inherent complexity related to the interaction between the electrical stimulation and the neural tissue, and the intricate circuital structure of the BG-thalamocortical network...
2017: PloS One
https://www.readbyqxmd.com/read/28811813/osteonecrosis-in-the-both-femoral-heads-in-a-patient-with-neuro-behcet-s-disease
#19
Asuman Orhan Varoglu, Asude Aksoy
Neuro-Behçet's disease (NBD) is a rare clinical entity that frequently presents neuro-psychiatric symptoms, and mesodiencephalic and pontobulbar lesions. There is only one published report about osteonecrosis in NBD. We report a patient whose first presentation was neurological NBD with presenting bilateral femoral heads osteonecrosis. A 36-year-old male was hospitalized with gait disorder, diplopia and speech disorder. The past medical history of the patient was unremarkable. The MR image showed mesencephalic lesion with oedemaas a hyperintense area...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811683/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-risk-for-male-infertility-in-asian-population
#20
Vandana Rai, Pradeep Kumar
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
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