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https://www.readbyqxmd.com/read/29749873/fatal-cryptococcal-meningitis-in-an-aids-patient-complicated-with-immune-reconstitution-syndrome-refractory-to-prolonged-amphotericin-b-treatment
#1
Thilinie D Bandaranayake, Onyema E Ogbuagu, Amit Mahajan, Alexander O Vortmeyer, Merceditas S Villanueva
Cryptococcus neoformans is a ubiquitous encapsulated environmental yeast that can cause severe central nervous system disease, primarily in immune compromised hosts. In patients with AIDS, the spectrum of cryptococcal central nervous system disease includes meningitis, cystic lesions, and mass-like cryptococcomas. We report a fatal case of meningitis and cerebritis caused by C. neoformans in an AIDS patient refractory to multiple courses of liposomal amphotericin B despite immune recovery with antiretroviral therapy...
January 1, 2018: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/29707758/whipple-disease-presenting-as-cystic-brain-tumor-case-report-and-review-of-the-literature
#2
Mohamed Kilani, Leila Njim, Atef Ben Nsir, Mohamed Nejib Hattab
Although neurological features are commonly encountered in Whipple"s disease (WD), presentation with purely neurological patterns is uncommon. Exclusive confinement to the central nervous system (CNS) is extremely rare. In these cases, the development of an isolated cerebral mass is exceptional. In the present paper, the authors describe a case of a 68-year-old man who presented with partial seizures. The neurological examination was normal. The imaging showed a cystic lesion. This tumor-like lesion was removed by performing frontal craniotomy...
2018: Turkish Neurosurgery
https://www.readbyqxmd.com/read/29679196/role-of-mr-spectroscopy-in-diagnosis-of-intracranial-neuroenteric-cyst
#3
R V Phadke, Suprava Naik, Alok Udiya, Gurucharan S Shetty, Vivek Singh, Sanjeev Kumar Bhoi
INTRODUCTION: Neuroenteric cysts are rare benign endodermal lesions of the central nervous system that result from incomplete resorption of neuroenteric canal and mostly found in cervical and upper thoracic spinal canal. Intracranial neuroenteric cysts are extra axial and commonly located anteriorly in the posterior cranial fossa. MRI demonstrates variable intensity within the lesion on T1, T2W, and DWI sequences. METHODS: Three cases of posterior fossa non-enhancing cystic lesions of variable signal intensity underwent MRI with MR spectroscopy, where MR spectroscopy demonstrated dominant peak at 2 ppm, mimicking normal Nacetyl aspartate (NAA)...
April 20, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29668630/thoracolumbar-spinal-neurenteric-cyst-with-tethered-cord-syndrome-and-extreme-cervical-lordosis-in-a-child-a-case-report-and-literature-review
#4
Zhi Gang Lan, Seidu A Richard, Chuanfen Lei, Siqing Huang
RATIONALE: Neurenteric cysts, are rare benign tumors of the central nervous system that are mostly located in the spinal cord and predominantly seen in male children although adult form of the disorder also occurs. The etiology and treatment of this disorder is still a matter of debate. Our case further throws more light on the pathogenesis and treatment of this disorder. PATIENT CONCERNS: A 4-year-old boy presented with 5-month history of cervical lordosis and bilateral lower extremity pain that progressed to his abdomen and upper body...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29662531/cystic-brain-metastases-in-alk-rearranged-non-small-cell-lung-cancer
#5
REVIEW
Guilherme Nader Marta, Renata Rodrigues da Cunha Colombo Bonadio, Renata Eiras Martins, Henrique Bortot Zuppani, Gilberto de Castro
The central nervous system (CNS) is a common site of disease progression in patients with non-small-cell lung cancer (NSCLC) with anaplastic lymphoma kinase (ALK)-rearrangement treated with crizotinib. Cystic brain metastases (CBM) have been recently identified as one possible variant of this disease. An illustrative case report is presented along with a literature review performed in order to track relevant papers about CBM in ALK-rearranged NSCLC, including possible pathophysiology, differential diagnosis and treatment options for this condition...
2018: Ecancermedicalscience
https://www.readbyqxmd.com/read/29619322/-burkholderia-multivorans-a-rare-yet-emerging-cause-of-bacterial-meningitis
#6
Diego P Peralta, Aymara Y Chang, Angie Ariza-Hutchinson, Catherine A Ho
Burkholderia multivorans is a member of the Burkholderia cepacia complex. Although it is usually associated with infections in patients with cystic fibrosis, chronic granulomatous disease, and immunosuppression, central nervous infections are not commonly reported. Moreover, management of these infections is difficult due to multiple mechanisms of bacterial resistance to antimicrobial agents. We report a 55-year-old-man who developed Burkholderia multivorans meningitis after two episodes of central line-associated bloodstream infections...
2018: IDCases
https://www.readbyqxmd.com/read/29615337/immunohistochemical-and-molecular-genetic-study-on-epithelioid-glioblastoma-series-of-seven-cases-with-review-of-literature
#7
Gaurav Khanna, Pankaj Pathak, Vaishali Suri, Mehar Chand Sharma, Sujata Chaturvedi, Arvind Ahuja, M Bhardwaj, Ajay Garg, Chitra Sarkar, Rajeev Sharma
Epithelioid glioblastoma (e-gbm) is a recently described variant of glioblastoma (GBM) which is associated with short survival and now added as a provisional entity to WHO 2016 classification of CNStumors. About half of these tumors show characteristic BRAF-V600E mutation. However, unlike conventional GBMs, e-gbm lack specific diagnostic and prognostic markers. Hence, we aimed to molecularly characterize these tumors. An extensive review of literature was performed.In a multi-institutional effort, all the cases of glioblastoma of year 2017 were reviewed...
March 22, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29594066/a-simple-and-rapid-gene-disruption-strategy-in-mycobacterium-abscessus-on-the-design-and-application-of-glycopeptidolipid-mutants
#8
Albertus Viljoen, Ana Victoria Gutiérrez, Christian Dupont, Eric Ghigo, Laurent Kremer
Little is known about the disease-causing genetic determinants that are used by Mycobacterium abscessus , increasingly acknowledged as an important emerging pathogen, notably in cystic fibrosis. The presence or absence of surface exposed glycopeptidolipids (GPL) conditions the smooth (S) or rough (R) M. abscessus subsp. abscessus ( M. abscessus ) variants, respectively, which are characterized by distinct infective programs. However, only a handful of successful gene knock-out and conditional mutants have been reported in M...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29560360/the-potentially-beneficial-central-nervous-system-activity-profile-of-ivacaftor-and-its-metabolites
#9
Elena K Schneider, Rachel M McQuade, Vincenzo C Carbone, Felisa Reyes-Ortega, John W Wilson, Brenda Button, Ayame Saito, Daniel P Poole, Daniel Hoyer, Jian Li, Tony Velkov
Ivacaftor-lumacaftor and ivacaftor are two new breakthrough cystic fibrosis transmembrane conductance modulators. The interactions of ivacaftor and its two metabolites hydroxymethylivacaftor (iva-M1) and ivacaftorcarboxylate (iva-M6) with neurotransmitter receptors were investigated in radioligand binding assays. Ivacaftor displayed significant affinity to the 5-hydroxytryptamine (5-HT; serotonin) 5-HT2C receptor (p K i =6.06±0.03), β3 -adrenergic receptor (p K i =5.71±0.07), δ-opioid receptor (p K i =5...
January 2018: ERJ Open Research
https://www.readbyqxmd.com/read/29560121/efficacy-and-safety-of-carbon-ion-radiotherapy-for-lacrimal-gland-carcinomas-with-extraorbital-extension-a-retrospective-cohort-study
#10
Kazuhiko Hayashi, Masashi Koto, Hiroaki Ikawa, Kazuhiko Ogawa, Tadashi Kamada
Purpose: To evaluate the efficacy and safety of carbon-ion radiotherapy (CIRT) for patients with lacrimal gland carcinomas (LGCs) with extraorbital extension. Results: The median follow-up period was 53.7 months. The 5-year local control and overall survival rates were 62% and 65%, respectively. Regarding late toxicities, 12 patients (36.4%) developed Grade 4 optic nerve disorders, including visual losses of the diseased side ( N = 8; 66.7%), and 1 patient (3.0%) developed a Grade 3 optic nerve disorder...
February 27, 2018: Oncotarget
https://www.readbyqxmd.com/read/29527391/neurenteric-cyst-of-the-conus-medullaris
#11
D Diaz-Aguilar, T Niu, S Terterov, R Scharnweber, A Tucker, J Woodard, H Brara, C Merna, H Shah, S Wang, S Rahman
Background: Neurenteric cysts (NECs) are rare developmental malformations of the central nervous system (CNS) which originate as benign congenital lesions. They originate from developmental foregut precursors, and are presumed to be the result of abnormal partitioning of the embryonic notochord plate. Such NECs predominantly arise in the cervical region in patients around 6 years of age or in their twenties or thirties. Notably, NECs of the conus medullaris are exceedingly rare, especially in patients of advanced age...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29520437/central-nervous-system-cns-neuroblastoma-a-case-based-update
#12
Federico Bianchi, Gianpiero Tamburrini, Marco Gessi, Paolo Frassanito, Luca Massimi, Massimo Caldarelli
BACKGROUND: Primary central nervous system (CNS) neuroblastoma is a rare intracranial tumor affecting children mainly in the first years of life. It is usually a supratentorial tumor with a wide spectrum of clinical presentation, seizures, and focal neurological deficits being the most common presenting signs. CASE DESCRIPTION: A 2-year-old child was admitted to our ward after a generalized seizure. Neurological examination was normal. Radiological studies showed a small DWI hyperintense lesion of the right rectus gyrus...
May 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29480846/supratentorial-intracerebral-cerebellar-liponeurocytoma-a-case-report-and-literature-review
#13
REVIEW
Jinxiu Cai, Wanlan Li, Jiang Du, Nini Xu, Peiyi Gao, Jian Zhou, Xiaofeng Li
RATIONALE: Cerebellar liponeurocytoma is a rare tumor of the central nervous system (CNS) characterized by low proliferation but high likelihood of recurrence. Because of its rarity and the paucity of systematic follow-up, the biological behaviors and clinical features of this tumor are still poorly understood. We herein reported a case of cerebellar liponeurocytoma originating in the cerebral hemisphere. PATIENT CONCERNS: A 11-year-old male with intermittent headache, nausea, and vomiting...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29479449/meckel-gruber-syndrome-associated-with-anencephaly-an-unusual-reported-case
#14
Houda Nasser Al Yaqoubi, Nishat Fatema
Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities...
February 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#15
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29305684/an-extraaxially-localized-intrasellar-giant-hydatid-cyst-with-hypophyseal-insufficiency
#16
Gökhan Çavuş, Vedat Açik, Yeliz Çavuş, Emre Bilgin, Yurdal Gezercan, Ali Ihsan Ökten
PURPOSE: A hydatid cyst is a parasitic illness that is caused by the larvae of Echinococcus granulosus. Hydatid cysts occur in the liver in 75% and in the lungs in 15% of cases. Central nervous system involvement is rare (perhaps as low as 1%), and the majority of such cases are observed in children. Headache and vomiting are the most frequently observed symptoms. In patients diagnosed with a hydatid cyst, imaging methods and serologic tests are very important for identifying cranial involvement...
January 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29250689/anatomic-variants-in-dandy-walker-complex
#17
Maria Claudia Jurcă, Kinga Kozma, CodruŢa Diana Petcheşi, Marius Bembea, Ovidiu Laurean Pop, Gabriela MuŢiu, Mihaela Cristiana Coroi, Alexandru Daniel Jurcă, Luciana Dobjanschi
Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29233624/first-and-second-trimester-screening-for-fetal-structural-anomalies
#18
REVIEW
Lindsay Edwards, Lisa Hui
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata...
April 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#19
REVIEW
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko, David Cassiman, Eva Morava
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29180541/neonatal-brain-injuries-in-england-population-based-incidence-derived-from-routinely-recorded-clinical-data-held-in-the-national-neonatal-research-database
#20
Chris Gale, Yevgeniy Statnikov, Sena Jawad, Sabita N Uthaya, Neena Modi
OBJECTIVE: In 2015, the Department of Health in England announced an ambition to reduce 'brain injuries occurring during or soon after birth'. We describe the development of a pragmatic case definition and present annual incidence rates. DESIGN: Retrospective cohort study using data held in the National Neonatal Research Database (NNRD) extracted from neonatal electronic patient records from all National Health Service (NHS) neonatal units in England, Wales and Scotland...
October 22, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
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