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leukoencephalopathies

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https://www.readbyqxmd.com/read/28820724/neurologic-complications-in-persons-with-hiv-infection-in-the-era-of-antiretroviral-therapy
#1
Dennis Kolson
Neurologic complications in persons with HIV infection are less severe in the era of potent antiretroviral therapy but remain highly prevalent. Prior to the use of antiretroviral therapy, opportunistic infections of the central nervous system (CNS) and CNS malignancy were common. Progressive multifocal leukoencephalopathy (PML), however, remains a diagnostic challenge in HIV-infected individuals, and no effective antiviral treatment for PML is currently available. Primary neurologic complications of acute HIV infection include aseptic meningitis and acute inflammatory demyelinating polyneuropathy...
July 2017: Topics in Antiviral Medicine
https://www.readbyqxmd.com/read/28817236/a-new-cul4b-variant-associated-with-a-mild-phenotype-and-an-exceptional-pattern-of-leukoencephalopathy
#2
Susann Weissbach, Marie-Christine Reinert, Janine Altmüller, Ralph Krätzner, Holger Thiele, Thorsten Rosenbaum, Peter Nürnberg, Jutta Gärtner
Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in CUL4B using "Mendeliome" sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816158/a-multi-institutional-prospective-observational-study-of-stereotactic-radiosurgery-for-patients-with-multiple-brain-metastases-jlgk0901-study-update-irradiation-related-complications-and-long-term-maintenance-of-mini-mental-state-examination-scores
#3
Masaaki Yamamoto, Toru Serizawa, Yoshinori Higuchi, Yasunori Sato, Jun Kawagishi, Kazuhiro Yamanaka, Takashi Shuto, Atsuya Akabane, Hidefumi Jokura, Shoji Yomo, Osamu Nagano, Hidefumi Aoyama
PURPOSE: The JLGK0901 study showed the noninferiority of stereotactic radiosurgery (SRS) alone as initial treatment of 5 to 10 brain metastases (BMs) compared with 2 to 4 BMs in terms of overall survival and most secondary endpoints (Lancet Oncol 2014;15:387-95). However, observation periods were not long enough to allow confirmation of the long-term safety of SRS alone in patients with 5 to 10 BMs. METHODS AND MATERIALS: This was a prospective observational study of Gamma Knife SRS-treated patients with 1 to 10 newly diagnosed BMs enrolled at 23 facilities between March 1, 2009, and February 15, 2012...
September 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28814166/late-presentation-of-nmosd-as-rapidly-progressive-leukoencephalopathy-with-atypical-clinical-and-radiological-findings
#4
Elia Sechi, Alberto Addis, Lucia Batzu, Sara Mariotto, Sergio Ferrari, Maurizio Conti, GianPietro Sechi
Brain abnormalities in neuromyelitis optica spectrum disorder (NMOSD) are highly heterogeneous and often non-specific. Extensive white matter involvement has been described and frequently manifests with encephalopathy requiring prompt intervention. Rarely, this may represent the only manifestation at onset without concurrent suggestive features of the disease, thus making diagnosis challenging. NMOSD may potentially occur at any age, but it seems that this disorder has distinctive clinical features in the elderly...
August 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28813206/levamisole-in-illicit-trafficking-cocaine-seized-a-one-year-study
#5
Simona Martello, Massimo Pieri, Cristiano Ialongo, Stefano Pignalosa, Gianluca Noce, Francesca Vernich, Carmelo Russo, Federico Mineo, Sergio Bernardini, Luigi Tonino Marsella
Cocaine use is increasing around the world and its purity is frequently altered through dilution, substitution, contamination, and adulteration. Sugars, talc, starch, and carbonates represent the principal diluents of cocaine, while phenacetin, levamisole, caffeine, and lidocaine are its major adulterants in Europe. Levamisole is used because it is an odorless powder, with physical properties similar to cocaine, and it has reasonable cost and availability, being widely used in veterinary medicine. For this study, we analyzed 88 cocaine samples...
August 16, 2017: Journal of Psychoactive Drugs
https://www.readbyqxmd.com/read/28801340/rare-case-of-ribose-5-phosphate-isomerase-deficiency-with-slowly-progressive-leukoencephalopathy
#6
Neeta Naik, Ami Shah, Mirjam M C Wamelink, Marjo S van der Knaap, Divyata Hingwala
No abstract text is available yet for this article.
August 11, 2017: Neurology
https://www.readbyqxmd.com/read/28800720/jc-virus-related-progressive-multifocal-leukoencephalopathy-after-living-donor-liver-transplant-a-rare-case
#7
Archana Rastogi, Natasha Gulati, Chhagan Bihari, Ashok Chaudhary, Kalpana Bansal, Shridhar Sasturkar, Shalini Thapar, Viniyendra Pamecha
Progressive multifocal leukoencephalopathy caused by polyoma JC virus is a rare and severe demyelinating disease of the central nervous system. It occurs in immunocompromised patients and is scarcely reported in liver transplant recipients. Brain biopsy demonstrating demyelination with presence of foamy macrophages, relative preservation of axons, astrogliosis, and typical polyomavirus inclusions in the enlarged oligodendroglial nuclei is essential for diagnosis. Here, we report a case of JC virus-associated progressive multifocal leukoencephalopathy in a living-donor liver transplant recipient who was transplanted for hepatitis C virus-related decompensated cirrhosis...
August 12, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28791614/age-as-a-risk-factor-for-early-onset-of-natalizumab-related-progressive-multifocal-leukoencephalopathy
#8
Luca Prosperini, Cristina Scarpazza, Luisa Imberti, Cinzia Cordioli, Nicola De Rossi, Ruggero Capra
Progressive multifocal leukoencephalopathy (PML) is a rare but potentially fatal opportunistic infection that arises almost exclusively in immunocompromised patients or in those treated with monoclonal antibodies, especially natalizumab. Here, we aimed at exploring if age at treatment start affects the time to onset of natalizumab-related PML. PubMed was searched for the terms "natalizumab and progressive multifocal leukoencephalopathy" in articles published from January 2005 to March 2017. We collected information on each identified PML case, including demographic and clinical variables at natalizumab start and at PML onset...
August 8, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28782182/heterozygous-mutations-of-htra1-gene-in-patients-with-familial-cerebral-small-vessel-disease
#9
Ilaria Di Donato, Silvia Bianchi, Gian Nicola Gallus, Alfonso Cerase, Ilaria Taglia, Francesca Pescini, Serena Nannucci, Carla Battisti, Domenico Inzitari, Leonardo Pantoni, Andrea Zini, Antonio Federico, Maria Teresa Dotti
AIMS: Cerebral small vessel disease (SVD) is the leading cause of vascular dementia. Although the most of cases are sporadic, familial monogenic causes have been identified in a growing minority of patients. CADASIL, due to mutations of NOTCH3 gene, is the most common genetic SVD, and CARASIL, linked to HTRA1 gene mutations, is a rare but well known autosomal recessive SVD. Recently, also heterozygous HTRA1 mutations have been described in patients with familial SVD. To detect a genetic cause of familial SVD, we performed mutational analysis of HTRA1 gene in a large cohort of Italian NOTCH3-negative patients...
August 6, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28781802/sorafenib-induced-reversible-posterior-leukoencephalopathy-in-patients-with-renal-cell-carcinoma-a-report-of-two-cases
#10
Nobuki Furubayashi, Takahito Negishi, Hidenori Iwai, Kei Nagase, Motonobu Nakamura
Reversible posterior leukoencephalopathy syndrome (RPLS) is a rare clinicoradiological syndrome that is characterized by neurological symptoms, including seizures, headaches, visual abnormalities, confusion and encephalopathy, accompanied by vasogenic edema of the posterior white matter observed on neuroimaging. Sorafenib is an inhibitor of pro-angiogenic receptor tyrosine kinases, such as vascular endothelial growth factor receptor 2, platelet-derived growth factor receptor β, and vascular endothelial growth factor receptor 3...
August 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28768870/the-replication-of-jcv-dna-in-the-g144-oligodendrocyte-cell-line-is-dependent-upon-akt
#11
Jesse N Peterson, Brian Lin, Jong Shin, Paul J Phelan, Philip Tsichlis, James E Schwob, Peter A Bullock
Progressive Multifocal Leukoencephalopathy (PML) is an often-fatal demyelinating disease of the central nervous system. PML results when oligodendrocytes within immunocompromised individuals are infected with the human JC virus (JCV). We have identified an oligodendrocyte precursor cell line, termed G144, which supports robust levels of JCV DNA replication, a central part of the JCV life cycle. In addition, we have determined that JC virus readily infects G144 cells. Furthermore, we have determined that JCV DNA replication in G144 cells is stimulated by myristoylated (i...
August 2, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28765176/transient-clinical-improvement-of-a-mitochondrial-neurogastrointestinal-encephalomyopathy-like-syndrome-after-allogeneic-haematopoietic-stem-cell-transplantation
#12
Malcolm Kevin Baker, Clara Maria Schutte, Neelay Ranchhod, David Brittain, J E van Rensburg
Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT)...
August 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28762473/late-diagnosis-and-atypical-brain-imaging-of-aicardi-gouti%C3%A3-res-syndrome-are-we-failing-to-diagnose-aicardi-gouti%C3%A3-res-syndrome-2
#13
Leah Svingen, Mitchell Goheen, Rena Godfrey, Colleen Wahl, Eva H Baker, William A Gahl, May Christine V Malicdan, Camilo Toro
Aicardi-Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon-mediated innate immune response. Most patients with AGS present with progressive microcephaly, spasticity, and cognitive impairment. Some, especially those with type 2 (AGS2), manifest milder phenotypes, reduced childhood mortality, and relative preservation of physical and cognitive abilities...
August 1, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28757888/rhodiolae-kirliowii-radix-et-rhizoma-and-crataegus-pinnatifida-fructus-extracts-effectively-inhibit-bk-virus-and-jc-virus-infection-of-host-cells
#14
San-Yuan Chen, Ru-Hsiou Teng, Meilin Wang, Pei-Lain Chen, Mien-Chun Lin, Cheng-Huang Shen, Chun-Nun Chao, Ming-Ko Chiang, Chiung-Yao Fang, Deching Chang
The human polyomaviruses BK (BKPyV) and JC (JCPyV) are ubiquitous pathogens long associated with severe disease in immunocompromised individuals. BKPyV causes polyomavirus-associated nephropathy and hemorrhagic cystitis, whereas JCPyV is the causative agent of the fatal demyelinating disease progressive multifocal leukoencephalopathy. No effective therapies targeting these viruses are currently available. The goal of this study was to identify Chinese medicinal herbs with antiviral activity against BKPyV and JCPyV...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28756984/a-55-year-old-female-with-leukoencephalopathy-with-cerebral-calcifications-and-cysts-case-report-and-radiopathologic-description
#15
Jorge Novo, Diana Lin, Megan Shanks, Mehmet Kocak, Leonidas Arvanitis
Adult-onset leukoencephalopathies with increased cerebral volume can present a potentially challenging diagnosis for the pathologist. We present the case of a patient with a rare adult-onset disease called Leukoencephalopathy with cerebral Calcifications and Cysts (LCC). A 55-year-old woman with a history of morning headaches, mild memory loss, diabetes, and hypertension presented to the emergency department with acute onset altered mental status. CT scan revealed multiple small hypodense lesions in the white matter with calcifications in the bilateral cerebral hemispheres, basal ganglia, pons, and cerebellar hemispheres...
July 6, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28748214/functionally-pathogenic-ears2-variants-in-vitro-may-not-manifest-a-phenotype-in-vivo
#16
Nathan McNeill, Alessia Nasca, Aurelio Reyes, Benjamin Lemoine, Brandi Cantarel, Adeline Vanderver, Raphael Schiffmann, Daniele Ghezzi
OBJECTIVE: To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC). METHODS: Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity. RESULTS: Whole-exome sequencing uncovered compound heterozygous mutations in EARS2, c.328G>A (p.G110S), and c...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28746943/identification-of-3-novel-patients-with-clcn2-related-leukoencephalopathy-due-to-clcn2-mutations
#17
Burcu Zeydan, Ugur Uygunoglu, Ayse Altintas, Sabahattin Saip, Aksel Siva, Truus E M Abbink, Marjo S van der Knaap, Cengiz Yalcinkaya
No abstract text is available yet for this article.
July 26, 2017: European Neurology
https://www.readbyqxmd.com/read/28724360/injury-of-ascending-reticular-activating-system-associated-with-delayed-post-hypoxic-leukoencephalopathy-a-case-report
#18
Sung Ho Jang, Hyeok Gyu Kwon
BACKGROUND: Delayed post-hypoxic leukoencephalopathy (DPHL) is a demyelinating syndrome characterized by neurological relapse after an initial recovery from hypoxic brain injury. We describe a patient with impaired consciousness following DPHL, concurrent with injury of the ascending reticular activating system (ARAS) shown using diffusion tensor tractography (DTT). CASE PRESENTATION: A 50-year-old male patient was in a drowsy mental state after exposure to carbon monoxide (CO) for about ten hours...
July 19, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28723803/leukoencephalopathy-with-calcifications-and-cysts-a-case-report
#19
Yubao Ma, Xingwen Zhang, Chen Cheng, Quangang Xu, Hai Di, Jiao Zhao, Dehui Huang, Shengyuan Yu
RATIONALE: Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, cerebral calcifications, and parenchymal cysts. Due to its rarity, the clinical, radiological, and histopathological features have yet to be well elucidated. PATIENT CONCERNS: The first case is a 35-year-old female who was asymptomatic. A giant intracranial cyst was incidentally detected radiologically, and it was slowly growing in the recent 10 years...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28721111/visual-consequences-of-medications-for-multiple-sclerosis-the-good-the-bad-the-ugly-and-the-unknown
#20
REVIEW
Heather E Moss
Multiple sclerosis (MS) is associated with vision changes both due to MS effects on visual pathways and due to medication effects on the visual pathways. Distinguishing the causes of vision change are critical to appropriate diagnosis and management. The incidence, presentation, and treatment of fingolimod-associated macular edema, alemtuzumab-associated thyroid orbitopathy, and progressive multifocal leukoencephalopathy in MS patients are reviewed. Evidence for beneficial effects of acute, chronic, and symptomatic MS medications on vision is presented...
2017: Eye and Brain
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