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https://www.readbyqxmd.com/read/29034894/induced-pluripotent-stem-cells-derived-from-a-patient-with-familial-idiopathic-basal-ganglia-calcification-ibgc-caused-by-a-mutation-in-slc20a2-gene
#1
Shin-Ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29033417/pseudohypoparathyroidism-causing-multiple-brain-calcifications
#2
Yuya Kobayashi, Jun Tsuyuzaki, Yoichi Koizumi
No abstract text is available yet for this article.
October 16, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29030706/rare-adar-and-rnaseh2b-variants-and-a-type-i-interferon-signature-in-glioma-and-prostate-carcinoma-risk-and-tumorigenesis
#3
Ulrike Beyer, Frank Brand, Helge Martens, Julia Weder, Arne Christians, Natalie Elyan, Bettina Hentschel, Manfred Westphal, Gabriele Schackert, Torsten Pietsch, Bujung Hong, Joachim K Krauss, Amir Samii, Peter Raab, Anibh Das, Claudia A Dumitru, I Erol Sandalcioglu, Oliver W Hakenberg, Andreas Erbersdobler, Ulrich Lehmann, Guido Reifenberger, Michael Weller, Martin A M Reijns, Matthias Preller, Bettina Wiese, Christian Hartmann, Ruthild G Weber
In search of novel germline alterations predisposing to tumors, in particular to gliomas, we studied a family with two brothers affected by anaplastic gliomas, and their father and paternal great-uncle diagnosed with prostate carcinoma. In this family, whole-exome sequencing yielded rare, simultaneously heterozygous variants in the Aicardi-Goutières syndrome (AGS) genes ADAR and RNASEH2B co-segregating with the tumor phenotype. AGS is a genetically induced inflammatory disease particularly of the brain, which has not been associated with a consistently increased cancer risk to date...
October 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29030384/follow-up-brain-imaging-of-37-children-with-congenital-zika-syndrome-case-series-study
#4
Natacha Calheiros de Lima Petribu, Maria de Fatima Vasco Aragao, Vanessa van der Linden, Paul Parizel, Patricia Jungmann, Luziany Araújo, Marília Abath, Andrezza Fernandes, Alessandra Brainer-Lima, Arthur Holanda, Roberto Mello, Camila Sarteschi, Maria do Carmo Menezes Bezerra Duarte
Objective To compare initial brain computed tomography (CT) scans with follow-up CT scans at one year in children with congenital Zika syndrome, focusing on cerebral calcifications.Design Case series study.Setting Barão de Lucena Hospital, Pernambuco state, Brazil.Participants 37 children with probable or confirmed congenital Zika syndrome during the microcephaly outbreak in 2015 who underwent brain CT shortly after birth and at one year follow-up.Main outcome measure Differences in cerebral calcification patterns between initial and follow-up scans...
October 13, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29019762/central-nervous-system-effects-of-intrauterine-zika-virus-infection-a-pictorial-review
#5
Bianca Guedes Ribeiro, Heron Werner, Flávia P P L Lopes, L Celso Hygino da Cruz, Tatiana M Fazecas, Pedro A N Daltro, Renata A Nogueira
Relatively few agents have been associated with congenital infections involving the brain. One such agent is the Zika virus, which has caused several outbreaks worldwide and has spread in the Americas since 2015. The Zika virus is an arbovirus transmitted by infected female mosquito vectors, such as the Aedes aegypti mosquito. This virus has been commonly associated with congenital infections of the central nervous system and has greatly increased the rates of microcephaly. Ultrasonography (US) remains the method of choice for fetal evaluation of congenital Zika virus infection...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29017677/artery-of-percheron-infarct-ararity-not-to-be-missed
#6
Farheen Niazi, Sameen Bin Naeem
Artery of Percheron (AOP) is a rare vascular variant of posterior cerebral circulation and it supplies blood to the bilateral paramedian thalami and the rostral midbrain. Artery of Percheron infarct requires a comprehensive clinical and radiological examination. It can be easily overlooked due to normal CTfindings and wide range of differential diagnosis. Classic triad of presentation is altered mental status, memory impairment and the vertical gaze palsy. We report a case of a 66-year female who had sudden onset of severe vertigo, diplopia and ataxia...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28987167/nutritional-and-systemic-metabolic-disorders
#7
Serge Weis, Andreas Büttner
Vitamin deficiency disorders display a wide variety of neurologic signs and symptoms, the pathogenesis of which is not clearly understood. Metabolic encephalopathies (hepatic, hypoglycemic, and uremic) have to be considered in the differential diagnosis of patients with cognitive impairment, motor disturbances, psychiatric symptoms, seizures, and neuropathies. Calcifications (vascular wall and parenchymal) occur in the normal aging brain and in neurodegeneration; some associated genes are already described.
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28980148/the-pathogenesis-of-microcephaly-resulting-from-congenital-infections-why-is-my-baby-s-head-so-small
#8
REVIEW
L D Frenkel, F Gomez, F Sabahi
The emergence of Zika-virus-associated congenital microcephaly has engendered renewed interest in the pathogenesis of microcephaly induced by infectious agents. Three of the original "TORCH" agents are associated with an appreciable incidence of congenital microcephaly: cytomegalovirus, rubella virus, and Toxoplasma gondii. The pathology of congenital microcephaly is characterized by neurotropic infectious agents that involve the fetal nervous system, leading to brain destruction with calcifications, microcephaly, sensorineural hearing loss, and ophthalmologic abnormalities...
October 5, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28978576/bilateral-intracranial-calcifications-with-bilateral-facial-cutaneous-naevus-sturge-weber-syndrome
#9
Muhammad Arif Saeed, Kiran Hilal, Prem Chand
Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000-50 000 persons with equal frequency in boys and girls...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28965226/soluble-fas-faslare-elevated-in-the-serum-and-cerebrospinal-fluid-of-patients-with-neurocysticercosis
#10
Xiaohua Chen, Xuan Yu, Yipeng Wang, Jiankui Zhu, Junchao Gu
Neurocysticercosis (NCC) caused by Taeniasolium is one of the most common parasitic diseases of the central nervous system. Inflammation and apoptosis are two main responses involved in NCC pathogenesis. We aimed to examine apoptosis by the TUNEL assay and apoptosis-associated sFas and sFasL levels in the cerebrospinal fluid (CSF) and serum of patients with NCC. Brain biopsy (n = 1), CSF (n = 14), and serum (n = 36) of patients with NCC and uninfected controls (n = 14 and 24 for CSF and serum, respectively) were collected together with clinical data...
September 30, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28942698/neuroimaging-findings-using-transfontanellar-ultrasound-in-newborns-with-microcephaly-a-possible-association-with-congenital-zika-virus-infection
#11
Ana Sofia França Cruz Ximenes, Pedro Pires, Heron Werner, Patricia Mello Jungmann, Epitácio Leite Rolim Filho, Etiene Pedrosa Andrade, Roberto Souza Lemos, Alberto Borges Peixoto, Mohammad Zare Mehrjardi, Gabriele Tonni, Edward Araujo Júnior
OBJECTIVE: To determine the main neuroimaging findings of microcephalic newborns with possible Zika virus (ZIKV) intrauterine infection using transfontanellar cranial ultrasound. METHODS: We performed a retrospective study to describe the main neuroimaging in newborns with microcephaly and possible association with congenital ZIKV infection. Microcephaly was defined in the postnatal period using transfontanellar cranial examination which was performed using both two- (2D) and three-dimensional (3D) ultrasound...
September 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28938336/arterial-stiffness-induced-by-carotid-calcification-leads-to-cerebral-gliosis-mediated-by-oxidative-stress
#12
Nataliya Sadekova, M Florencia Iulita, Diane Vallerand, Gervais Muhire, Mohamed Bourmoum, Audrey Claing, Hélène Girouard
BACKGROUND: Arterial stiffness is a risk factor for cognitive decline and dementia. However, its precise effects on the brain remain unexplored. Using a mouse model of carotid stiffness, we investigated its effect on glial activation and oxidative stress. METHODS: Arterial stiffness was induced by the application of calcium chloride to the adventitial region of the right carotid. Superoxide anion production, NADPH activity and levels, as well as glial activation were examined with immunohistochemical and biochemical approaches, 2-week postcalcification...
September 21, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28935882/clinical-and-radiological-diversity-in-genetically-confirmed-primary-familial-brain-calcification
#13
Shingo Koyama, Hidenori Sato, Ryota Kobayashi, Shinobu Kawakatsu, Masayuki Kurimura, Manabu Wada, Toru Kawanami, Takeo Kato
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28929921/clinical-implications-of-interictal-epileptiform-discharges-in-cognitive-functioning-in-cec-syndrome-with-evolution-into-epileptic-encephalopathy
#14
Paolo Bonanni, Susanna Negrin, Lisa Antoniazzi, Martina Da Rold, Franco Fabbro, Anna Serafini
In epileptic encephalopathies (EE), interictal epileptiform discharges (IEDs) contribute to cognitive impairment. The EE process has been studied in a patient affected by epilepsy with occipital calcification and celiac disease (CEC syndrome) by combining the administration of brain area stimulus specific (visual and auditory) reaction times (RT) during continuous EEG monitoring with the off-line reconstruction of auditory and visual evoked potentials (EP). Visual RT and VEP were abnormal only if recorded concomitantly to the IEDs...
September 20, 2017: Neurocase
https://www.readbyqxmd.com/read/28921047/child-dermoid-cyst-mimicking-a-craniopharyngioma-the-benefit-of-mri-t2-weighted-diffusion-sequence
#15
Aymeric Amelot, Alin Borha, Raphael Calmon, Patrick Barbet, Stephanie Puget
BACKGROUND: Brain dermoid cysts are very rare lesions. Although benign, these cysts may be associated with devastating complications due to mass effect or meningitis. The discovery of completely asymptomatic dermoid cysts in the pediatric population is exceedingly rare. Despite the advances in imaging modalities, it sometimes remains difficult to exclude the differential diagnosis of craniopharyngioma. CASE REPORT: We describe a 12-year-old boy addressed for suspicion of craniopharyngioma diagnosed by decreased visual acuity, bitemporal hemianopia and a CT scan showing a large hypodense suprasellar lesion with intralesional calcifications...
September 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28898891/new-insights-into-the-natural-history-of-congenital-zika-virus-syndrome
#16
María Guadalupe Lovagnini Frutos, José Héctor Ochoa, María Gabriela Barbás, Héctor Dante Lucchini, Martín Moya, Gustavo Malinger
We describe the prenatal evolution of the brain findings in a patient with proved Zika virus infection at 8 weeks of gestation showing the very early appearance at 17 weeks of ventriculomegaly and signs of brain parenchymal involvement without microcephaly. The involvement of the brain becomes more evident at 22 and 27 weeks with the apparition of calcifications and microcephaly. Interestingly, the postnatal findings failed to show significant worsening when compared to these prenatal findings.
September 13, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28887599/uptake-of-av-1451-in-meningiomas
#17
Tyler J Bruinsma, Derek R Johnson, Ping Fang, Matthew Senjem, Keith A Josephs, Jennifer L Whitwell, Bradley F Boeve, Mukesh K Pandey, Kejal Kantarci, David T Jones, Prashanthi Vemuri, Melissa Murray, Jonathan Graff-Radford, Christopher G Schwarz, David S Knopman, Ronald C Petersen, Clifford R Jack, Val J Lowe
AIM: AV-1451 is an imaging agent labeled with the positron-emitting radiolabel Fluorine-18. 18F-AV-1451 binds paired helical filament tau (PHF-tau), a pathology related to Alzheimer's disease. In our study of AV-1451 uptake in the brains of cognitively normal subjects, we noted a case of a meningioma with visually significant uptake of AV-1451. OBJECTIVE: We initiated the present retrospective study to further examine cases of meningioma that underwent AV-1451 imaging...
September 8, 2017: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/28875854/cytomegalovirus-infection-the-neurodevelopmental-peptide-signatures
#18
Guglielmo Lucchese, Darja Kanduc
BACKGROUND AND OBJECTIVE: HCMV infection may cause neurodevelopmental disorders, including intellectual disability, hearing loss, cortical malformations, and calcifications. Theorizing about the still unknown molecular basis of HCMV-related diseases, this study analyzes the peptide sharing between HCMV, strains AD169 and Merlin, and human proteins, searching for shared sequences that might lead to crossreactive autoimmune injuries in the brain during immune responses following HCMV infection...
August 29, 2017: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/28866787/iron-metabolism-and-its-detection-through-mri-in-parkinsonian-disorders-a-systematic-review
#19
REVIEW
Sara Pietracupa, Antonio Martin-Bastida, Paola Piccini
Iron deposition in the brain normally increase with age, but its accumulation in certain regions is observed in a number of neurodegenerative diseases including Parkinson's disease (PD) and other parkinsonisms. Whether iron overload leads to dopaminergic neuronal death in the SN of PD patients or is instead simply a by-product of the neurodegenerative progression is still yet to be ascertained. Magnetic resonance imaging (MRI) is a non-invasive method to assess brain iron content in PD patients. In PD, accurate radiologic visualization of basal ganglia is required...
September 2, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28865507/-gorlin-goltz-syndrome-diagnosis-and-treatment-options
#20
João Mendes-Abreu, Miguel Pinto-Gouveia, Cátia Tavares-Ferreira, Ana Brinca, Ricardo Vieira
The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts...
May 31, 2017: Acta Médica Portuguesa
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