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https://www.readbyqxmd.com/read/28815340/intradural-lumbosacral-malignant-extrarenal-rhabdoid-tumor-a-case-report
#1
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
https://www.readbyqxmd.com/read/28812938/unilateral-optic-perineuritis-due-to-nonspecific-orbital-inflammation-a-case-report
#2
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
https://www.readbyqxmd.com/read/28761208/sudden-bilateral-sensorineural-hearing-loss-following-postpartum-hemorrhage-a-case-report
#3
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
https://www.readbyqxmd.com/read/28727166/hepatocytes-contribute-to-residual-glucose-production-in-a-mouse-model-for-glycogen-storage-disease-type-ia
#4
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 longstanding enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production (EGP) despite the loss of glucose-6-phosphatase (G6Pase) activity. Insight into the source of residual EGP is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated G6Pase-independent EGP 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...
July 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#5
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
https://www.readbyqxmd.com/read/28701321/pituitary-adenylate-cyclase-activating-polypeptide-pacap-drives-cardiorespiratory-responses-to-heat-stress-in-neonatal-mice
#6
Karlene T Barrett, John Andrew Daubenspeck, Richard J A Wilson
The neuropeptide, pituitary adenylate cyclase-activating polypeptide (PACAP), has emerged as a principal and rate-limiting regulator of physiological stress responses in adult rodents and has been implicated in SIDS (Sudden Infant Death Syndrome). Recent studies show that PACAP plays a role in neonatal cardiorespiratory responses to hypoxia, hypercapnia and hypothermia, but not hyperthermia, which is often associated with SIDS. Here we tested the hypothesis that, consistent with a role in SIDS, PACAP is involved in regulating the neonatal cardiorespiratory responses to severe heat...
July 12, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28701309/arhgap18-protects-against-thoracic-aortic-aneurysm-formation-by-mitigating-the-synthetic-and-proinflammatory-smooth-muscle-cell-phenotype
#7
Renjing Liu, Lisa Lo, Angelina J Lay, Yang Zhao, Ka Ka Ting, Elizabeth N Robertson, Andrew G Sherrah, Sorour Jarrah, Haibo Li, Zhaoxiong Zhou, Brett D Hambly, David R Richmond, Richmond W Jeremy, Paul G Bannon, Mathew A Vadas, Jennifer R Gamble
RATIONALE: Thoracic aortic aneurysm (TAA) is a potentially lethal condition, which can affect individuals of all ages. TAA may be complicated by the sudden onset of life-threatening dissection or rupture. The underlying mechanisms leading to TAA formation, particularly in the nonsyndromal idiopathic group of patients, are not well understood. Thus, identification of new genes and targets that are involved in TAA pathogenesis are required to help prevent and reverse the disease phenotype...
August 18, 2017: Circulation Research
https://www.readbyqxmd.com/read/28682904/sudden-bilateral-vision-loss-as-the-sole-manifestation-of-posterior-reversible-encephalopathy-syndrome-from-acute-uremia-clinical-case-report
#8
Hye-Young Shin, So Hee Kim, Mee Yon Lee, Sun Ae Yoon, Su Young Kim, Young Chun Lee
RATIONALE: Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity associated with vasogenic edema. Symptoms may include headache, seizures, altered mental status, and visual impairment. Patients with PRES generally present with neurological deficits. PATIENT CONCERNS: Here, we report an unusual case of a 42-year-old man who presented with sudden bilateral vision loss without any other neurologic symptoms. DIAGNOSES: He was diagnosed with PRES secondary to acute uremia...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28665178/xanthogranulomatous-colloid-cyst-of-the-third-ventricle-alter-your-surgical-strategy
#9
Ganesh Swaminathan, Gandham E Jonathan, Bimal Patel, Krishna Prabhu
Colloid cysts are the most common benign neoplasms of the anterior third ventricle, mostly located at the level of the foramen of Monro and can often manifest as sudden onset headache or loss of consciousness. These cysts often have a well-defined cyst wall, mucinous or watery intracystic fluid and have a fairly good plane with the surrounding parenchyma. Occasionally, intracystic haemorrhage can lead to xanthogranulomatous inflammatory changes within the cyst resulting in focal thickening of the cyst wall and adhesion to the surrounding structures...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28593511/de-novo-exonic-duplication-of-atp1a2-in-italian-patient-with-hemiplegic-migraine-a-case-report
#10
Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda
BACKGROUND: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. CASE PRESENTATION: We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28578424/aminophylline-restores-glucocorticoid-sensitivity-in-a-guinea-pig-model-of-sudden-sensorineural-hearing-loss-induced-by-lipopolysaccharide
#11
Qiong-Qiong Zhou, Yan-Hong Dai, Xiao-Ping Du, Jie Hou, Hui Qi, Wan-Dong She
Glucocorticoids have been used to treat hearing loss and vestibular dysfunction for many years. However, some reports have indicated that a subset of patients with these disorders exhibit glucocorticoid insensitivity or resistance. A reduction in histone deacetylase 2 (HDAC2) activity and expression has been reported to play a critical role in glucocorticoid resistance. Here, we investigated the protective effects of aminophylline on HDAC2 expression and glucocorticoid sensitivity in lipopolysaccharide (LPS)-induced sudden sensorineural hearing loss in guinea pigs...
June 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28571193/recurrent-longitudinally-extensive-myelitis-and-aquaporin-4-seronegativity-the-expanding-spectrum-of-neuromyelitis-optica
#12
Ravi Anadure, Coimbatore Sivasubramanian Narayanan, Govindaraj Varadraj
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a recently proposed unifying term for Neuromyelitis Optica (NMO), also known as Devic's disease and related syndromes. It is a relapsing inflammatory demyelinating disease that most commonly affects optic nerves and the spinal cord, leading to sudden vision loss or weakness in one or both eyes, and loss of sensation and bladder function. Though inflammation may also involve the brain, the lesions seen in NMO are different from Multiple Sclerosis (MS) which has a similar clinical course...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28492255/asia-s-glaciers-are-a-regionally-important-buffer-against-drought
#13
Hamish D Pritchard
The high mountains of Asia-encompassing the Himalayas, the Hindu Kush, Karakoram, Pamir Alai, Kunlun Shan, and Tian Shan mountains-have the highest concentration of glaciers globally, and 800 million people depend in part on meltwater from them. Water stress makes this region vulnerable economically and socially to drought, but glaciers are a uniquely drought-resilient source of water. Here I show that these glaciers provide summer meltwater to rivers and aquifers that is sufficient for the basic needs of 136 million people, or most of the annual municipal and industrial needs of Pakistan, Tajikistan, Turkmenistan, Uzbekistan and Kyrgyzstan...
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28405476/bilateral-retinitis-following-typhoid-fever
#14
M Prabhushanker, Tasneem T Topiwalla, Geetha Ganesan, Sripal Appandaraj
BACKGROUND: Post typhoid fever immune related reactions affecting the eye is a rare finding which can have various presentations in which typhoid retinopathy is not a well recognized sequelae. CASE PRESENTATION: Here we present a case of 59 year old male who presented with right eye sudden painless loss of vision 4 weeks after typhoid fever which was diagnosed and treated successfully. His BCVA was 2/60 in right eye and 6/6 in left eye. Fundus examination showed retinitis along with macular serous detachment in right eye and retinitis in left eye...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28351997/mitochondrial-protein-fus1-tusc2-in-premature-aging-and-age-related-pathologies-critical-roles-of-calcium-and-energy-homeostasis
#15
Roman Uzhachenko, Kelli Boyd, Danyvid Olivares-Villagomez, Yueming Zhu, J Shawn Goodwin, Tanu Rana, Anil Shanker, Winston J T Tan, Tanya Bondar, Ruslan Medzhitov, Alla V Ivanova
Decreased energy production and increased oxidative stress are considered to be major contributors to aging and aging-associated pathologies. The role of mitochondrial calcium homeostasis has also been highlighted as an important factor affecting different pathological conditions. Here, we present evidence that loss of a small mitochondrial protein Fus1 that maintains mitochondrial homeostasis results in premature aging, aging-associated pathologies, and decreased survival. We showed that Fus1KO mice develop multiple early aging signs including lordokyphosis, lack of vigor, inability to accumulate fat, reduced ability to tolerate stress, and premature death...
March 26, 2017: Aging
https://www.readbyqxmd.com/read/28290797/-the-brugada-syndrome-in-a-teenager
#16
I M Miklashevich, E V Kuleshova, S A Termosesov, M A Shkolnikova
The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28277038/has-growth-mixture-modeling-improved-our-understanding-of-how-early-change-predicts-psychotherapy-outcome
#17
Andrew Koffmann
OBJECTIVE: Early change in psychotherapy predicts outcome. Seven studies have used growth mixture modeling [GMM; Muthén, B. (2001). Second-generation structural equation modeling with a combination of categorical and continuous latent variables: New opportunities for latent class-latent growth modeling. In L. M. Collins & A. G. Sawyers (Eds.), New methods for the analysis of change (pp. 291-322). Washington, DC: American Psychological Association] to identify patient classes based on early change but have yielded conflicting results...
March 2, 2017: Psychotherapy Research: Journal of the Society for Psychotherapy Research
https://www.readbyqxmd.com/read/28272467/meta-analysis-identifies-novel-risk-loci-and-yields-systematic-insights-into-the-biology-of-male-pattern-baldness
#18
Stefanie Heilmann-Heimbach, Christine Herold, Lara M Hochfeld, Axel M Hillmer, Dale R Nyholt, Julian Hecker, Asif Javed, Elaine G Y Chew, Sonali Pechlivanis, Dmitriy Drichel, Xiu Ting Heng, Ricardo C-H Del Rosario, Heide L Fier, Ralf Paus, Rico Rueedi, Tessel E Galesloot, Susanne Moebus, Thomas Anhalt, Shyam Prabhakar, Rui Li, Stavroula Kanoni, George Papanikolaou, Zoltán Kutalik, Panos Deloukas, Michael P Philpott, Gérard Waeber, Tim D Spector, Peter Vollenweider, Lambertus A L M Kiemeney, George Dedoussis, J Brent Richards, Michael Nothnagel, Nicholas G Martin, Tim Becker, David A Hinds, Markus M Nöthen
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10(-8), METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options...
March 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28097232/vps34-regulates-myofibril-proteostasis-to-prevent-hypertrophic-cardiomyopathy
#19
Hirotaka Kimura, Satoshi Eguchi, Junko Sasaki, Keiji Kuba, Hiroki Nakanishi, Shunsuke Takasuga, Masakazu Yamazaki, Akiteru Goto, Hiroyuki Watanabe, Hiroshi Itoh, Yumiko Imai, Akira Suzuki, Noboru Mizushima, Takehiko Sasaki
Hypertrophic cardiomyopathy (HCM) is a common heart disease with a prevalence of 1 in 500 in the general population. Several mutations in genes encoding cardiac proteins have been found in HCM patients, but these changes do not predict occurrence or prognosis and the molecular mechanisms underlying HCM remain largely elusive. Here we show that cardiac expression of vacuolar protein sorting 34 (Vps34) is reduced in a subset of HCM patients. In a mouse model, muscle-specific loss of Vps34 led to HCM-like manifestations and sudden death...
January 12, 2017: JCI Insight
https://www.readbyqxmd.com/read/28051127/population-cycles-and-species-diversity-in-dynamic-kill-the-winner-model-of-microbial-ecosystems
#20
Sergei Maslov, Kim Sneppen
Determinants of species diversity in microbial ecosystems remain poorly understood. Bacteriophages are believed to increase the diversity by the virtue of Kill-the-Winner infection bias preventing the fastest growing organism from taking over the community. Phage-bacterial ecosystems are traditionally described in terms of the static equilibrium state of Lotka-Volterra equations in which bacterial growth is exactly balanced by losses due to phage predation. Here we consider a more dynamic scenario in which phage infections give rise to abrupt and severe collapses of bacterial populations whenever they become sufficiently large...
January 4, 2017: Scientific Reports
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