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sudden hering loss

Natasha Warikoo, Samuel J Brunwasser, Ann Benz, Hong-Jin Shu, Steven M Paul, Michael Lewis, James Doherty, Michael Quick, Laura Piccio, Charles F Zorumski, Gregory S Day, Steven Mennerick
N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors important for synaptic plasticity, memory, and neuropsychiatric health. NMDAR hypofunction contributes to multiple disorders, including anti-NMDAR encephalitis (NMDARE), an autoimmune disease of the central nervous system associated with GluN1 antibody-mediated NMDAR internalization. Here we characterize the functional/pharmacological consequences of exposure to cerebrospinal fluid (CSF) from female human NMDARE patients on NMDAR function, and we characterize the effects of intervention with recently described positive allosteric modulators (PAMs) of NMDARs...
February 23, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Mikail Cakir, Dogan Yildirim, Fatma Sarac, Turgut Donmez, Semih Mirapoglu, Adnan Hut, Fazilet Erozgen, Omer Faruk Ozer, Melih Ozgun Gecer, Leyla Zeynep Tigrel, Oguzhan Tas
Purpose/Aim: Acute mesenteric ischemia is a syndrome characterized by sudden onset abdominal pain followed by intestinal necrosis. Morbidity and mortality increase with delayed diagnosis. Even with the latest radiological diagnostic methods, early diagnosis and initiation of treatment can be delayed. Using an experimental model, here we aim to determine the relationship between the laboratory parameters used to detect acute mesenteric ischemia and the duration of irreversible ischemia. MATERIALS AND METHODS: A total of 30 male Wistar albino rats were divided into five groups, all of which underwent general anesthesia: (i) Superior mesenteric artery (SMA) dissection with laparotomy was performed, and blood samples and intestinal segment samples were taken after 2 hr (Sham group); (ii) volvulus of one-third of the small intestines was performed manually by laparotomy, and blood samples and intestinal segment samples were taken after 2 hr (Volvulus group); (iii) SMA was ligated with laparotomy, and blood samples and intestinal segment samples were taken after 2 hr (SMA+ligated 2-hr group); (iv) SMA was ligated with laparotomy, and blood samples and intestinal segment samples were taken after 4 hr (SMA+ligated 4-hr group); and (v) SMA was ligated with laparotomy, and blood samples and intestinal segment samples were taken after 6 hr (SMA+ligated 6-hr group)...
February 22, 2018: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
Navneet K Singh, Alexander J Sweidan, Sarah Strube, Ignacio Carrillo-Nunez
Neuromyelitis optica spectrum disorders (NMOSDs) are a set of demyelinating disorders that primarily target the optic nerves and the spinal cord. Previously thought to be a subset of multiple sclerosis (MS), now is recognized as a distinct entity. We present a 59-year-old female patient who was admitted for acute upper and lower extremity weakness. The patient had woken up from sleep with sudden onset of weakness. Patient was initially diagnosed with a right hemispheric stroke; however, magnetic resonance imaging of the cervical spine later performed showed abnormal enhancement from C2-C4, representing transverse myelitis...
2018: Clinical Medicine Insights. Case Reports
Xiaoting Li, Lu Yu, Jing Gao, Xukun Bi, Juhong Zhang, Shiming Xu, Meihui Wang, Mengmeng Chen, Fuyu Qiu, Guosheng Fu
Diabetes Mellitus is a common disorder, with increasing risk of cardiac arrhythmias. Studies have shown that altered connexin expression and gap junction remodeling under hyperglycemia contribute to the high prevalence of cardiac arrhythmias and even sudden death. Connexin 43 (Cx43), a major protein that assembles to form cardiac gap junctions, has been found to be downregulated under high glucose conditions, along with inhibition of gap junctional intercellular communication (GJIC). While, apelin, a beneficial adipokine, increases Cx43 protein expression in mouse and human embryonic stem cells during cardiac differentiation...
February 2018: Aging and Disease
Tamar Goldzak, Alexei A Mailybaev, Nimrod Moiseyev
Almost twenty years ago, light was slowed down to less than 10^{-7} of its vacuum speed in a cloud of ultracold atoms of sodium. Upon a sudden turn-off of the coupling laser, a slow light pulse can be imprinted on cold atoms such that it can be read out and converted into a photon again. In this process, the light is stopped by absorbing it and storing its shape within the atomic ensemble. Alternatively, the light can be stopped at the band edge in photonic-crystal waveguides, where the group speed vanishes...
January 5, 2018: Physical Review Letters
R Jäger, M Mendoza, H J Herrmann
Erosion and deposition during flow through porous media can lead to large erosive bursts that manifest as jumps in permeability and pressure loss. Here we reveal that the cause of these bursts is the reopening of clogged pores when the pressure difference between two opposite sites of the pore surpasses a certain threshold. We perform numerical simulations of flow through porous media and compare our predictions to experimental results, recovering with excellent agreement shape and power-law distribution of pressure loss jumps, and the behavior of the permeability jumps as a function of particle concentration...
September 22, 2017: Physical Review Letters
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Douglas R Nordli, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. DS patients have a high risk of sudden unexplained death in epilepsy (SUDEP), believed to be due to cardiac mechanisms. Here we show that DS patients have peri-ictal respiratory dysfunction. One patient who had severe and prolonged postictal hypoventilation later died of SUDEP. Mice with an Scn1aR1407X/+ loss of function mutation died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
January 11, 2018: Journal of Clinical Investigation
Christopher J Yuskaitis, Brandon M Jones, Rachel L Wolfson, Chloe E Super, Sameer C Dhamne, Alexander Rotenberg, David M Sabatini, Mustafa Sahin, Annapurna Poduri
DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway, but the role of DEPDC5 in neurodevelopment and epilepsy has not been described. No animal model of DEPDC5-related epilepsy has recapitulated the neurological phenotypes seen in patients, and germline knockout rodent models are embryonic lethal. Here, we establish a neuron-specific Depdc5 conditional knockout mouse by cre-recombination under the Synapsin1 promotor...
December 20, 2017: Neurobiology of Disease
Congcong Sun, Wen Xia, Ying Liu, Guoyong Jia, Cuilan Wang, Chuanzhu Yan, Yi Li
RATIONALE: Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. Here, we describe a Han Chinese patient with FFI who exhibited agrypnia excitata and obstructive apnea. PATIENT CONCERNS: A 46-year-old man displayed involuntary movements during sleep time, snoring, autonomic nervous system dysfunction, cognitive deficit, brainstem symptoms, myoclonus and ataxia in order within 8 months...
December 2017: Medicine (Baltimore)
Kasper Thorsen, Vibeke S Dam, Kasper Kjaer-Sorensen, Lisbeth N Pedersen, V Arvydas Skeberdis, Jonas Jurevičius, Rimantas Treinys, Ida M B S Petersen, Morten S Nielsen, Claus Oxvig, J Preben Morth, Vladimir V Matchkov, Christian Aalkjær, Henning Bundgaard, Henrik K Jensen
Patients with short QT syndrome (SQTS) may present with syncope, ventricular fibrillation or sudden cardiac death. Six SQTS susceptibility genes, encoding cation channels, explain <25% of SQTS cases. Here we identify a missense mutation in the anion exchanger (AE3)-encoding SLC4A3 gene in two unrelated families with SQTS. The mutation causes reduced surface expression of AE3 and reduced membrane bicarbonate transport. Slc4a3 knockdown in zebrafish causes increased cardiac pHi , short QTc, and reduced systolic duration, which is rescued by wildtype but not mutated SLC4A3...
November 22, 2017: Nature Communications
Seul-Ki Yeom, Dong-Ok Won, Seong In Chi, Kwang-Suk Seo, Hyun Jeong Kim, Klaus-Robert Müller, Seong-Whan Lee
On sedation motivated by the clinical needs for safety and reliability, recent studies have attempted to identify brain-specific signatures for tracking patient transition into and out of consciousness, but the differences in neurophysiological effects between 1) the sedative types and 2) the presence/absence of surgical stimulations still remain unclear. Here we used multimodal electroencephalography-functional near-infrared spectroscopy (EEG-fNIRS) measurements to observe electrical and hemodynamic responses during sedation simultaneously...
2017: PloS One
Brahim Tighilet, David Péricat, Alais Frelat, Yves Cazals, Guillaume Rastoldo, Florent Boyer, Olivier Dumas, Christian Chabbert
Vestibular disorders, by inducing significant posturo-locomotor and cognitive disorders, can significantly impair the most basic tasks of everyday life. Their precise diagnosis is essential to implement appropriate therapeutic countermeasures. Monitoring their evolution is also very important to validate or, on the contrary, to adapt the undertaken therapeutic actions. To date, the diagnosis methods of posturo-locomotor impairments are restricted to examinations that most often lack sensitivity and precision...
2017: PloS One
Wesley M Raup-Konsavage, Yanming Wang, Wei Wei Wang, Denis Feliers, Hong Ruan, W Brian Reeves
Ischemia/reperfusion is a common cause of acute kidney injury (AKI). However, mechanisms underlying the sudden loss in kidney function and tissue injury remain to be fully elucidated. Here, we investigated the role of peptidyl arginine deiminase-4 (PAD4), which converts arginine to citrulline and plays a role in epigenetic regulation and inflammation, in renal ischemia/reperfusion injury. PAD4 expression was highly induced in infiltrating leukocytes 24 hours following renal ischemia and reperfusion. This induction was accompanied by citrullination of histone H3 and formation of neutrophil extracellular traps in kidneys of wild-type mice...
October 20, 2017: Kidney International
Nazia Dildar, Saeed Bin Ayaz, Muhammad Omer Aamir, Nadeem Ahmad
CONTEXT: Spontaneous spinal epidural hemorrhage (SSEH) mostly presents as low back pain with or without a radiculopathy, and rarely with paraplegia or tetraplegia depending on the site and severity of spinal cord compression. We present here a case who had anemia and developed paraplegia following disseminated intravascular coagulation (DIC) due to a transfusion reaction. FINDINGS: A 65-year-old lady presented with sudden onset chest pain radiating to nape of the neck followed by loss of sensations and power in legs few hours after a blood transfusion...
October 19, 2017: Journal of Spinal Cord Medicine
Prathibha Hande, Babi Sinha, Shivani Nayak, Srilakshmi Srinivasan, Jyothi Shetty
A 75-year-old man presented to us with sudden onset of profound vision loss in his right eye and was identified as suffering from an ophthalmic artery occlusion. Apart from the retinal whitening and box-carring of the retinal arteries, there were characteristic triangular patches of retinal whitening in the midperipheral temporal fundus indicating a previous lateral posterior choroidal artery occlusion. The patient was a chronic smoker and had dyslipidemia. The carotid Doppler study showed complete occlusion of the internal carotid artery...
October 2017: Indian Journal of Ophthalmology
Richard Justin Garling, Rasanjeet Singh, Carolyn Harris, Abilash Haridas
BACKGROUND: Rhabdoid tumors are highly malignant tumors predominantly affecting the pediatric population. When these tumors occur outside of the kidneys, they are referred to as malignant extrarenal rhabdoid tumors (MERT), a rare highly aggressive subtype. Less commonly, these tumors involve the neuro-axis. OBJECTIVE: Here we present a case of a 15-year-old girl with intradural MERT of the lumbosacral spine who presented with back pain, sudden worsening of lower extremity strength, and complete loss of bowel and bladder control...
August 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Pinar Nalcacioglu, Golge Acaroglu
Nonspecific orbital inflammation is an idiopathic chronic tumor-like inflammation process that usually affects the orbital tissues of both eyes. Isolated optic nerve involvement by an idiopathic inflammatory process is a rare finding. Here, we report a patient with unilateral sudden onset severe orbital pain and headache with visual loss to no light perception that could only be attributed to perineuritis. Radiological findings enabled making the correct diagnosis. Various relevant diagnoses are also discussed...
August 16, 2017: Orbit
Sara Mirzaeian, Sedigheh Ayati, Asieh Maleki
The prevalence of bilateral sudden sensorineural hearing loss (SSNHL) is less than 5% and the etiology of most cases is unknown. Due to many structural and functional similarities between the kidney and inner ear, many conditions, diseases, and drugs have both renal and cochlear effects and toxicities. There are several reports of SSNHL in patients with CRF, uraemic patient, hemodialysis treatment, and ARF. Here, we report a rare manifestation of SSNHL following severe postpartum hemorrhage that has simultaneous renal failure and cochlear impairment...
July 2017: Iranian Journal of Medical Sciences
Brenda S Hijmans, Andreas Boss, Theo H van Dijk, Maud Soty, Henk Wolters, Elodie Mutel, Albert K Groen, Terry G J Derks, Gilles Mithieux, Arend Heerschap, Dirk-Jan Reijngoud, Fabienne Rajas, Maaike H Oosterveer
It is a long-standing enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production despite the loss of glucose-6-phosphatase activity. Insight into the source of residual endogenous glucose production is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated glucose-6-phosphatase-independent endogenous glucose production in hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc-/- mice) and performed real-time analysis of hepatic glucose fluxes and glycogen metabolism in L-G6pc-/- mice using state-of-the-art stable isotope methodologies...
December 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
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