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https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#1
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
#2
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
#3
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
#4
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...
December 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#5
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...
November 28, 2017: 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
#6
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
https://www.readbyqxmd.com/read/29143062/-intracranial-cystic-lesions
#7
REVIEW
F Ahlhelm, K Shariat, S Götschi, S Ulmer
CLINICAL PROBLEM: Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mitochondriopathies, leukodystrophy, electrolyte disturbances or osmotic demyelination syndrome or brain infarctions, e...
November 15, 2017: Der Radiologe
https://www.readbyqxmd.com/read/29121235/management-of-an-outbreak-of-exophiala-dermatitidis-bloodstream-infections-at-an-outpatient-oncology-clinic
#8
Amber Marie Vasquez, D Zavasky, N A Chow, L Gade, E Zlatanic, S Elkind, A P Litvintseva, Peter G Pappas, J R Perfect, S G Revankar, S R Lockhart, T M Chiller, J Ackelsberg, S Vallabhaneni
Exophiala (Wangiella) dermatitidis is a dematiaceous fungus that can grow in yeast or mold forms and is typically found in decaying organic matter. It can cause central nervous system disease, particularly in immunocompromised patients, and has been implicated as a respiratory pathogen in cystic fibrosis patients [1,2]. It has also been identified as a colonizer in the gastrointestinal tract [3]. However, bloodstream infections with this organism are exceedingly rare.
November 7, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29056588/neonatal-brain-injuries-in-england-population-based-incidence-derived-from-routinely-recorded-clinical-data-held-in-the-national-neonatal-research-database
#9
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
https://www.readbyqxmd.com/read/29027018/accelerated-growth-of-hemangioblastoma-in-pregnancy-the-role-of-proangiogenic-factors-and-upregulation-of-hypoxia-inducible-factor-hif-in-a-non-oxygen-dependent-pathway
#10
REVIEW
Yosef Laviv, Joshua L Wang, Matthew P Anderson, Ekkehard M Kasper
Hemangioblastomas (HBs) are benign, highly vascular tumors, often characterized by loss of function of the von Hippel-Lindau (vHL) gene. They are the most common central nervous system tumor observed in vHL syndrome. Loss of function of the vHL gene creates a "pseudo-hypoxic" state, causing overactivation of hypoxia-inducible factor (HIF) and vascular endothelial growth factor (VEGF)-related pathways. In some cases, HBs can rapidly increase in size during pregnancy to then present acutely, which most frequently occurs after the 20th gestational week...
October 13, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28991326/-cerebral-hydatid-disease-report-of-six-pediatric-cases
#11
Martín Brízuela, Claudia Sarkis, Roberto González, Patricia Paulin, Fabiana Lubieniecki, Griselda Berberian
Hydatid disease is a parasitic infection whose etiologic agent is Echinococcus granulosus. Human is an accidental intermediate host and the most common site is the liver. The brain involvement is unusual and up to 75% of cases are described in the pediatric population. We present six children with cerebral hydatid disease admitted to the Pediatric Hospital J.P. Garrahan. All had neurological involvement on admission. The images showed single cystic lesion in the brain. They did not present involvement in other organs...
June 2017: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/28990708/astroblastoma-a-distinct-tumor-entity-characterized-by-alterations-of-the-x-chromosome-and-mn1-rearrangement
#12
Takanori Hirose, Sumihito Nobusawa, Kazuhiko Sugiyama, Vishwa J Amatya, Naomi Fujimoto, Atsushi Sasaki, Yoshiki Mikami, Akiyoshi Kakita, Shinya Tanaka, Hideaki Yokoo
Astroblastoma is a rare, enigmatic tumor of the central nervous system (CNS) which shares some clinicopathologic aspects with other CNS tumors, especially ependymoma. To further clarify the nature of astroblastoma, we performed clinicopathologic and molecular genetic studies on eight cases of astroblastoma. The median age of the patients was 14.5 years, ranging from 5 to 60 years, and seven of the patients were female. All tumors arose in the cerebral hemisphere and radiologically appeared to be well-bordered, nodular tumors often associated with cystic areas and contrast-enhancement...
October 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28984146/nonclinical-safety-assessment-of-spx-101-a-novel-peptide-promoter-of-epithelial-sodium-channel-internalization-for-the-treatment-of-cystic-fibrosis
#13
Matthew P Walker, Matt Cowlen, Dale Christensen, Mutsumi Miyamoto, Phillip Barley, Timothy Crowder
BACKGROUND: ENaC inhibition has long been an attractive therapeutic target for the treatment of cystic fibrosis. However, previous attempts at developing ENaC inhibitors have been unsuccessful due to complications arising from systemic circulation of the compounds. Here, we describe the preclinical toxicology assessment of a new inhaled peptide promoter of ENaC internalization delivered as a nebulized aerosol. METHODS: Preclinical assessment of SPX-101 safety was determined using an in vitro hERG assay, bolus injection of SPX-101 in a canine cardiovascular and respiratory safety pharmacology model and 28-day inhalation toxicology studies of nebulized drug in rats and dogs...
October 6, 2017: Inhalation Toxicology
https://www.readbyqxmd.com/read/28943417/giant-cell-ependymoma-of-the-lateral-ventricle-case-report-literature-review-and-analysis-of-prognostic-factors-and-genetic-profile
#14
Hirokazu Takami, Christopher Graffeo, Avital Perry, Aditya Raghunathan, Robert B Jenkins, Caterina Giannini, Terry C Burns
Giant cell ependymoma (GCE) is a rare primary CNS neoplasm. We report a case of GCE arising in the lateral ventricle. A 22-year-old female presented with generalized seizures. MRI demonstrated a diffuse, non-enhancing, multi-cystic mass centered in the atrium of the right lateral ventricle with extension throughout the frontal and temporal horns. An initial subtotal resection yielded the signature biphasic pattern of GCE. The dominant component contained pleomorphic, bizarre-appearing giant cells with low mitotic index, and a minor component comprised monomorphic, highly cellular, mitotically active cells that formed perivascular pseudorosettes...
September 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28912446/an-injectable-hydrogel-enhances-tissue-repair-after-spinal-cord-injury-by-promoting-extracellular-matrix-remodeling
#15
Le Thi Anh Hong, Young-Min Kim, Hee Hwan Park, Dong Hoon Hwang, Yuexian Cui, Eun Mi Lee, Stephanie Yahn, Jae K Lee, Soo-Chang Song, Byung Gon Kim
The cystic cavity that develops following injuries to brain or spinal cord is a major obstacle for tissue repair in central nervous system (CNS). Here we report that injection of imidazole-poly(organophosphazenes) (I-5), a hydrogel with thermosensitive sol-gel transition behavior, almost completely eliminates cystic cavities in a clinically relevant rat spinal cord injury model. Cystic cavities are bridged by fibronectin-rich extracellular matrix. The fibrotic extracellular matrix remodeling is mediated by matrix metalloproteinase-9 expressed in macrophages within the fibrotic extracellular matrix...
September 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28884631/takotsubo-cardiomyopathy-associated-with-paragonimiasis-westermani
#16
Ryouhei Matsuoka, Jun Muneuchi, Yusaku Nagatomo, Daisuke Shimizu, Seigo Okada, Chiaki Iida, Hiromitsu Shirouzu, Mamie Watanabe, Yasuhiko Takahashi, Haruhiko Maruyama
An 11-year-old boy collapsed during morning assembly at his junior high school. The automated external defibrillator detected ventricular fibrillation and provided shock delivery. He was successfully resuscitated and reverted to sinus rhythm. Electrocardiography showed ST-T elevation in the precordial leads. Echocardiography and angiography demonstrated akinesia of the apex and mid-wall of the left ventricle with preserved contraction of the basal segments, which suggested Takotsubo cardiomyopathy. The patient and his family had often eaten uncooked crab, and his father had a past history of infection with Paragonimiasis westermani...
September 8, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28840072/treatment-of-racemose-neurocysticercosis
#17
Samuel G McClugage, Rachael A Lee, Bernard C Camins, Juan J Mercado-Acosta, Martin Rodriguez, Kristen O Riley
BACKGROUND: Neurocysticercosis (NCC) is a common parasitic infection of the central nervous system, caused by the tapeworm Taenia solium. It is endemic to certain parts of the world, including Central America, South America, Asia, and Africa. The racemose form, characterized by extraparenchymal location, increased morbidity and mortality, and large loculated cystic lesions, is rarely seen in industrialized countries, such as the United States. The management of racemose neurocysticercosis (RNCC) differs from that of the typical parenchymal variant...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28840069/hydrocephalus-as-the-sole-presentation-of-primary-diffuse-large-b-cell-lymphoma-of-the-brain-report-of-a-case-and-review-of-literature
#18
Ahmad Pourrashidi Boshrabadi, Ali Naiem, Seyed Shahab Ghazi Mirsaeid, Kourosh Karimi Yarandi, Abbas Amirjamshidi
BACKGROUND: The most common lymphoid malignancy in adults is diffuse large B-cell lymphoma (DLBCL). The median age of occurrence of DLBCL is between 6(th) and 7(th) decade of life, although some other types of aggressive non-Hodgkin's lymphomas (NHL) are present in younger age. Primary central nervous system lymphoma (PCNSL) is an uncommon type of extranodal NHL, which is either more prevalent or is diagnosed more often than before. CASE DESCRIPTION: A 22-year-old man with ventriculoperitoneal shunt (VPS) performed at another center was referred with manifestations of shunt malfunction, unusual behavior, dysphasia, and hallucination...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28807340/unusual-locations-of-hydatid-disease-a-10-year-experience-from-a-tertiary-reference-center-in-western-turkey
#19
Eylul Gun, Demet Etit, Dilara O Buyuktalanci, Fulya Cakalagaoglu
INTRODUCTION: Hydatid disease is an endemic parasitic infection caused by Echinococcus granulosus mostly seen in the Mediterranean countries. The most affected organ is the liver, however hydatidosis can be found anywhere in the human body. METHODS: The records of patients who were diagnosed with hydatid disease in our hospital from December 2005 to February 2016 were analyzed retrospectively. The cases were evaluated and recorded depending on their gender, age and the localization of the cysts...
August 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28776935/shorter-telomere-length-increases-age-related-tumor-risks-in-von-hippel-lindau-disease-patients
#20
Jiang-Yi Wang, Shuang-He Peng, Xiang-Hui Ning, Teng Li, Sheng-Jie Liu, Jia-Yuan Liu, Bao-An Hong, Nie-Nie Qi, Xiang Peng, Bo-Wen Zhou, Jiu-Feng Zhang, Lin Cai, Kan Gong
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene. Patients are predisposed to develop pheochromocytomas and solid or cystic tumors of the central nervous system, kidney, pancreas, and retina. Remarkable phenotypic heterogeneity exits in organ involvement and tumor onset age between and within VHL families. However, no reliable markers have been found to predict the age-related tumor risks in VHL patients. A large Chinese cohort composed of 300 VHL patients and 92 healthy family controls was enrolled in our study...
September 2017: Cancer Medicine
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