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https://www.readbyqxmd.com/read/28676219/de-novo-cystic-brain-lesions-mimicking-neurocysticercosis-in-alk-positive-lung-cancer
#1
Su-Hyun Kim, Jae-Won Hyun, Ho Jin Kim, Ho-Shin Gwak, Sang Hyun Lee, Eun-Kyung Hong, Youngjoo Lee
Cystic brain metastases (CBM) have been recently reported in a minority of patients with anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer (NSCLC). All previously reported ALK-positive CBM developed during crizotinib treatment and were often asymptomatic and indolent, even without CNS-directed therapy. Thus, crizotinib was suggested as an etiologic agent for the development of CBM. Here, we report a case of de novo CBM in a patient with ALK-positive NSCLC prior to crizotinib treatment; the ALK-positive NSCLC had initially been misdiagnosed as neurocysticercosis because of the atypical radiological presentation of brain metastases...
August 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28589383/von-hippel-lindau-disease-a-single-gene-several-hereditary-tumors
#2
REVIEW
J Crespigio, L C L Berbel, M A Dias, R F Berbel, S S Pereira, D Pignatelli, T L Mazzuco
The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with different phenotypes from family to family, affecting different organs during the lifetime. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina, renal carcinomas and cysts, bilateral pheochromocytomas, cystic and solid tumors of the pancreas, cystadenomas of the epididymis, and endolymphatic sac tumors...
June 6, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28576305/cystic-fibrosis-transmembrane-regulator-modulators-implications-for-the-management-of-depression-and-anxiety-in-cystic-fibrosis
#3
REVIEW
Jaideep S Talwalkar, Jonathan L Koff, Hochang B Lee, Clemente J Britto, Arielle M Mulenos, Anna M Georgiopoulos
BACKGROUND: Individuals with cystic fibrosis (CF) are at high risk for depression and anxiety, which are associated with worse medical outcomes. Novel therapies for CF hold great promise for improving physical health, but the effects of these therapies on mental health remain poorly understood. OBJECTIVE: This review aims to familiarize psychiatrists with the potential effect of novel CF therapies on depression and anxiety. METHODS: We discuss novel therapies that directly target the mutant CF protein, the CF transmembrane regulator (CFTR), which are called CFTR modulators...
July 2017: Psychosomatics
https://www.readbyqxmd.com/read/28442311/sleep-phase-delay-in-cystic-fibrosis-a-potential-new-manifestation-of-cystic-fibrosis-transmembrane-regulator-dysfunction
#4
Judy L Jensen, Christopher R Jones, Christiana Kartsonaki, Kristyn A Packer, Frederick R Adler, Theodore G Liou
BACKGROUND: Cystic fibrosis (CF) transmembrane regulator (CFTR) protein dysfunction causes CF. Improving survival allows detection of increasingly subtle disease manifestations. CFTR dysfunction in the central nervous system (CNS) may disturb circadian rhythm and thus sleep phase. We studied sleep in adults to better understand potential CNS CFTR dysfunction. METHODS: We recruited participants from April 2012 through April 2015 and administered the Munich Chronotype Questionnaire (MCTQ)...
April 22, 2017: Chest
https://www.readbyqxmd.com/read/28442197/metastases-in-cerebellopontine-angle-from-the-tumors-of-central-nerve-system
#5
Mingshan Zhang, Zhaoyan Wang, Junping Zhang, Hongwei Zhang, Chunyu Gu, Haoran Wang, Chunjiang Yu, Hao Wu
The objective of this study was to analyze the characters of the cerebellopontine angle (CPA) metastases from central nerve system (CNS) tumors. Ten patients were reviewed for the period between 2008 and 2015. The clinical and neuroimaging features, and treatment outcomes were analyzed retrospectively. The average period during primary diagnosis through the diagnosis of CPA metastases was 42.4months. Among the 10 cases, the primary tumors and metastases were found simultaneously in 3 cases, the metastases after primary tumor removal were found in 5 cases, and the metastases after stereotaxic radiosurgery were found in 2 cases...
August 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28378288/development-of-cystic-malacia-after-high-dose-cranial-irradiation-of-pediatric-cns-tumors-in-long-term-follow-up
#6
Fumiyuki Yamasaki, Takeshi Takayasu, Ryo Nosaka, Ikuno Nishibuchi, Hiroshi Kawaguchi, Manish Kolakshyapati, Shumpei Onishi, Taiichi Saito, Kazuhiko Sugiyama, Masao Kobayashi, Kaoru Kurisu
PURPOSE: The purpose of this study is to investigate the incidence of cystic malacia in long-term survivors of pediatric brain tumors treated with high-dose cranial irradiation. MATERIALS AND METHODS: Between 1997 and 2015, we treated 41 pediatric patients (26 males, 15 females; age ranging from 3.3 to 15.7 years, median 9-year-old) of pediatric brain tumors [17 medulloblastomas, 7 primitive neuroectodermal tumors (PNET), 3 pineoblastomas, 6 non-germinomatous germ cell tumors (NGGCT), 8 gliomas (including 4 ependymomas, 1 anaplastic astrocytoma, 1 oligodendroglioma, 1 pilocytic astrocytoma, 1 astroblastoma)] with high-dose craniospinal irradiation...
April 4, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28296680/primitive-neuroectodermal-tumors-of-the-female-genital-tract-a-morphologic-immunohistochemical-and-molecular-study-of-19-cases
#7
Sarah Chiang, Matija Snuderl, Sakiko Kojiro-Sanada, Ariadna Quer Pi-Sunyer, Dean Daya, Tohru Hayashi, Luisanna Bosincu, Fumihiro Ogawa, Andrew E Rosenberg, Lars-Christian Horn, Lu Wang, A John Iafrate, Esther Oliva
Primary primitive neuroectodermal tumor (PNET) of the female genital tract is rare, and its proper classification remains unclear. The clinical, histologic, and immunophenotypic features as well as EWSR1 rearrangement status of 19 gynecologic PNETs, including 10 ovarian, 8 uterine, and 1 vulvar tumors, are herein reported. Patient age ranged from 12 to 68 years, with a median age of 20 and 51 years among those with ovarian and uterine PNETs, respectively. Morphologic features of central nervous system (CNS) tumors were seen in 15 PNETs, including 9 medulloblastomas, 3 ependymomas, 2 medulloepitheliomas, and 1 glioblastoma, consistent with central PNET...
June 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28283827/prenatal-ultrasound-genotype-and-outcome-in-a-large-cohort-of-prenatally-affected-patients-with-autosomal-recessive-polycystic-kidney-disease-and-other-hereditary-cystic-kidney-diseases
#8
Florian Erger, Nadina Ortiz Brüchle, Ulrich Gembruch, Klaus Zerres
PURPOSE: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. METHODS: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome...
April 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28272259/rathke-cleft-cyst-masquerading-as-pituitary-abscess-a-case-report
#9
Chengxian Yang, Xinjie Bao, Xiaohai Liu, Kan Deng, Ming Feng, Yong Yao, Renzhi Wang
BACKGROUND: Rathke cleft cyst (RCC) is a rare cystic sellar entity, which is usually small in size and asymptomatic in most patients. RCC presenting panhypopituitarism and a cystic lesion with rim enhancement on magnetic resonance imaging is extremely rare. Therefore, it is easy to be misdiagnosed as pituitary abscess because of the similar clinical manifestations and neuroimaging changes. CASE SUMMARY: We report a rare case of RCC masquerading as pituitary abscess clinically and radiologically with no evidence of central nervous system infection...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28270941/a-lip-lump-an-unexpected-histological-diagnosis-of-a-lip-schwannoma
#10
Thomas Haigh, John Raad Glore, David Gouldesbrough, Winson Wong
Schwannomas are benign nerve sheath tumours arising from Schwann cells. They comprise 1% of all benign tumours. In the 2016 World Health Organisation Classification of Central Nervous System, they are classified as a tumour of the cranial and paraspinal nerves, Schwannoma 9560/0. A 23-year-old Caucasian lady presented with a seven-month history of a painless right upper lip lump. Examination revealed a small cystic 0.5 cm diameter lesion within the right upper lip. The clinical impression was that of a mucocele...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28263524/foetal-asphyxia-as-a-strong-stimulator-of-the-sympathetic-nervous-system-in-the-brain-case-report
#11
Ingrid Brucknerová, Eduard Ujházy
The aim of the study was to analyse case report of prenatally unknown asphyxia of the foetus (a preterm newborn from the second pregnancy delivered by urgent caesarean section in 31st gestational week; birth weight 850 grams, birth length 41 cm, value of Apgar score 7/8) with signs of respiratory insufficiency immediately after birth with hypotonicity. The authors present the case of postnatal at the 1st day of life assessed cystic malformation in the brain of premature newborn. They emphasize the importance of detailed prenatal investigation as most important in preventing prenatal asphyxia and consequent complications...
December 18, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#12
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28243595/cns-metastases-from-bone-and-soft-tissue-sarcomas-in-children-adolescents-and-young-adults-are-they-really-so-rare
#13
Monika Bekiesinska-Figatowska, Agnieszka Duczkowska, Marek Duczkowski, Hanna Bragoszewska, Anna Romaniuk-Doroszewska, Beata Iwanowska, Sylwia Szkudlinska-Pawlak, Jaroslaw Madzik, Katarzyna Bilska, Anna Raciborska
Purpose. To check whether primary involvement of brain/spinal cord by bone/soft tissue sarcomas' metastases in children is as rare as described and to present various morphological forms of bone/soft tissue sarcomas' CNS metastases. Methods. Patients with first diagnosis in 1999-2014 treated at single center were included with whole course of disease evaluation. Brain/spinal canal magnetic resonance imaging (MRI)/computed tomography were performed in cases suspicious for CNS metastases. Extension from skull/vertebral column metastases was excluded...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28188169/cerebral-cryptococcoma-mimicking-glioblastoma
#14
Kimberly B Ulett, James W J Cockburn, Rosalind Jeffree, Marion L Woods
Cryptococcus neoformans and C. gattii cause invasive fungal disease, with meningitis being the most common manifestation of central nervous system (CNS) disease. Encapsulated cryptococcomas occur rarely, predominantly in immunocompetent hosts, usually related to C. gattii Our patient was an immunocompetent man who presented with headache and a large cystic CNS lesion thought to be glioblastoma. Biopsy of a concomitant lung lesion confirmed cryptococcoma and empiric antifungal therapy was started for presumed CNS cryptococcoma...
February 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28174186/avoiding-misdiagnosis-cystic-calcified-brain-metastases-of-uterine-cervical-cancer-mimicking-neurocysticercosis
#15
Jacopo Fantini, Arianna Sartori, Paolo Manganotti
The radiological finding of multiple calcified brain lesions is atypical for brain metastases and in absence of a clear evidence of disseminated neoplastic disease the differential diagnosis may be difficult. Calcified brain metastases (CBM) are rarely encountered in clinical practice and they mostly arise from lung, breast and gastrointestinal primitive tumours. Only one case of uterine cervical carcinoma (UCC) with CBM has been reported so far. We describe the case of a 41-year-old Caucasian woman with a history of hysterectomy and bilateral salpingo-oophorectomy for UCC 3 years prior to observation and no evidence of neoplastic recurrence that developed cystic CBM...
February 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28116411/meningoencephalitis-caused-by-pathogenic-sarcocystis-species-in-a-naturally-infected-sheep-in-turkey
#16
Aylin Alasonyalilar-Demirer, M Mufit Kahraman, Ahmet Akkoç, S Pelin Erturkuner, E Elif Guzel, Oguz Kul, Volkan Ipek
A 3-year-old sheep was examined after an acute onset of hind limb paralysis and ataxia. At necropsy, central nervous system, pulmonary and intestinal hyperaemia and ecchymoses in the aortic arch were observed. Main microscopic lesions were confined to the heart, cerebrum and cerebellum. There were a multifocal mild myocarditis and nonsuppurative meningoencephalitis together with protozoal cysts in the heart and the brain. Protozoal cystic structures were observed within many of the myocardial fibers as well as in the cerebrum and cerebellum...
February 9, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28042664/well-formed-cerebellum-and-brainstem-like-structures-in-a-mature-ovarian-teratoma-neuropathological-observations
#17
Masayuki Shintaku, Toshiko Sakuma, Chiho Ohbayashi, Motoyoshi Maruo
In the surgical case of a mature cystic teratoma of the ovary that arose in a 16-year-old girl, a large amount of well-differentiated and highly organized cerebellar tissue was found. Three layers of the cerebellar cortex were well formed, and synaptophysin-positive "glomeruli" were found in the granule cell layer. Some Purkinje cells exhibited focal expansion and a dysmorphic appearance of the dendrites. Adjacent to the cerebellar tissue, a large space lined by the ependymal layer and a club-shaped CNS tissue mass resembling the brainstem were found, and structures reminiscent of the midbrain tectum and pontine nuclei were distinguished within this mass...
April 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28041961/expression-of-angiopoietins-in-central-nervous-system-hemangioblastomas-is-associated-with-cyst-formation
#18
Xiang Li, Wenke Liu, Jianping Liu, Weiya Wang, Si Zhang, Jian Chen, Xuhui Hui
PURPOSE: This study aimed to determine the expression of angiopoietin-1 (Ang-1), angiopoietin-2 (Ang-2), and endothelial tyrosine kinase receptor (Tie-2) in central nervous system (CNS) hemangioblastomas (HBs) and explore the correlation with peritumoral cyst formation. METHOD: A total of 22 paraffin-embedded specimens derived from 11 cyst-associated and 11 solid solitary CNS HBs were collected for streptavidin-peroxidase immunohistochemical staining. The expression levels of Ang-1, Ang-2 and Tie-2 in cystic and solid HBs were estimated and compared according to the integrated optical density (IOD) of staining in the sections...
February 3, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28029275/oligodendroglial-cell-proliferation-arising-in-an-ovarian-mature-cystic-teratoma-clinicopathological-inmunohistochemical-and-ultrastructural-study-of-a-case-that-may-represent-an-oligodendroglioma
#19
Mónica Lizzette Serrano-Arévalo, Leonardo Saúl Lino-Silva, Hugo Ricardo Domínguez Malagón
Ovarian mature cystic teratoma (OMCT) is an ovarian benign neoplasm with excellent prognosis presenting components of the three germinal layers. However, transformation into a malignant neoplasm is a rare event (so-called somatic transformation). In most of the cases, the malignant component expresses as epidermoid carcinoma, but occasionally central nervous system tumors occur. Some of the previously reported tumors are astrocytoma, glioblastoma, and ependymoma. Somatic transformation of OMCT into an oligodendroglioma is exceptional...
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/27879399/bone-subtraction-radiography-in-adult-patients-with-cystic-fibrosis
#20
Verena C Obmann, Andreas Christe, Lukas Ebner, Zsolt Szucs-Farkas, Sebastian R Ott, Sai Yarram, Enno Stranzinger
Background Bone subtraction radiography allows reading pulmonary changes of chest radiographs more accurately without superimposition of bones. Purpose To evaluate the value of bone subtraction chest radiography using dual energy (DE) bone subtracted lung images compared to conventional radiographs (CR) in adult patients with cystic fibrosis (CF). Material and Methods Forty-nine DE radiographs of 24 patients (16 men) with CF (mean age, 32 years; age range, 18-71 years) were included. Lung function tests were performed within 10 days of the radiographs...
January 1, 2016: Acta Radiologica
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