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https://www.readbyqxmd.com/read/29448117/refractory-focal-epilepsy-in-a-paediatric-patient-with-primary-familial-brain-calcification
#1
Juliet K Knowles, Jonathan D Santoro, Brenda E Porter, Fiona M Baumer
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
February 6, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29426978/impact-of-intracranial-artery-calcification-on-cerebral-hemodynamic-changes
#2
Xiaohong Wu, Li Wang, Jingxin Zhong, Jacky Ko, Lin Shi, Yannie Soo, Thomas Leung, Ka Sing Wong, Jill Abrigo, Xiangyan Chen
PURPOSE: Intracranial artery calcification (IAC) has been demonstrated to be correlated with ischemic stroke, cognitive decline, and other vascular events by accumulating evidences from both Western and Asian populations. The proposed study aimed to investigate its potential mechanisms by evaluating the blood flow velocity and pulsatility index (PI) of cerebral arteries. METHODS: Consecutive ischemic stroke patients admitted to the Prince of Wales Hospital were recruited after excluding those with atrial fibrillation or poor temporal window...
February 9, 2018: Neuroradiology
https://www.readbyqxmd.com/read/29408781/extradural-petromastoid-calcifying-pseudoneoplasm-of-the-neuraxis-capnon-case-report-and-literature-review
#3
Eric S Nussbaum, Chris Hilton, Archie Defillo, William McDonald, Theodore Passe, Kevin M Kallmes, Leslie A Nussbaum
BACKGROUND: Calcifying pseudoneoplasm of the neuraxis (CAPNON) is a very rare tumor with fewer than 70 cases reported in the literature. In general, this tumor occurs intracranially either within the brain parenchyma or in an extra-axial location, but it has also been described within the spine as an extra-axial lesion. CASE DESCRIPTION: We describe an unusual case of intracranial-extradural CAPNON involving the mastoid region. This may be only the second such case reported in the literature, as one patient with CAPNON has been reported involving the sinonasal region...
January 12, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29391077/cerebral-manifestations-of-mitochondrial-disorders
#4
Josef Finsterer, Elmano Henrique Torres de Carvalho
This review aims at summarizing and discussing previous and recent findings concerning the cerebral manifestations of mitochondrial disorders (MIDs). MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) either already at onset or later in the course. After the muscle, the brain is the organ second most frequently affected in MIMODS. Cerebral manifestations of MIDs are variable and may present with or without a lesion on imaging or functional studies, but there can be imaging/functional lesions without clinical manifestations...
November 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29386495/-retinal-vasculopathy-with-cerebral-leukoencephalopathy-carrying-trex1-mutation-diagnosed-by-the-intracranial-calcification-a-case-report
#5
Ryouhei Komaki, Takehiro Ueda, Yukio Tsuji, Toko Miyawaki, Sentaro Kusuhara, Shigeo Hara, Tatsushi Toda
A 40-year-old woman with renal dysfunction for 2 years was admitted to our hospital suffering from a headache. Family history revealed that her mother had a headache, renal dysfunction, and brain infarction in younger age. She had a retinal hemorrhage, a retinal atrophy, pitting edema in her lower extremities. Her neurological findings were unremarkable. Brain imaging showed multiple white matter lesions accompanied with calcifications and slightly enhancement. Kidney biopsy showed the thrombotic microangiopathy, Gene analysis demonstrated a causative mutation in three-prime repair exonuclease-1 (TREX1) gene, c...
January 31, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29375828/co-occurrence-of-a-novel-pdgfrb-variant-and-likely-pathogenic-variant-in-casr-in-an-individual-with-extensive-intracranial-calcifications-and-hypocalcaemia
#6
Natasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, Jennifer M Gass, John Richter, Herjot K Atwal, Jay A van Gerpen, Paldeep S Atwal
This case report describes an individual with brain calcifications, cognitive decline, motor dysfunction, and hypocalcaemia. Exome sequencing revealed a previously reported variant in the CASR gene and a variant of uncertain significance in PDGFRB. The clinical phenotype is likely explained by the CASR variant, but we discuss how the PDGFRB variant could also participate in the phenotype.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29364426/-nevoid-basal-cell-carcinoma-syndrome-gorlin-syndrome-report-of-two-cases-and-review-of-the-literature
#7
María Del Carmen Castro-Mujica, Claudia Barletta-Carrillo, Julio A Poterico, Marisa Acosta, Jesús Valer, Miguel De La Cruz
Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling...
October 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29353032/clinical-assessment-and-brain-findings-in-a-cohort-of-mothers-fetuses-and-infants-infected-with-zika-virus
#8
Magdalena Sanz Cortes, Ana Maria Rivera, Mayel Yepez, Carolina V Guimaraes, Israel Diaz Yunes, Alexander Zarutskie, Ivan Davila, Anil Shetty, Arun Mahadev, Saray Maria Serrano, Nicolas Castillo, Wesley Lee, Gregory Valentine, Michael Belfort, Guido Parra, Carrie Mohila, Kjersti Aagaard, Miguel Parra
BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly, and manifests as a number of signs and symptoms detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital ZIKV infection and detected brain abnormalities are: 1) To assess the prevalence of microcephaly and the frequency of the anomalies including a detailed description based on ultrasound and magnetic resonance imaging (MRI) in fetuses and ultrasound, MRI and computed tomography imaging postnatally; 2) To provide quantitative measures of fetal and infant brain findings by MRI using volumetric analyses and diffusion weighted imaging (DWI); 3) To obtain additional information from placental and fetal histopathological assessments and postnatal clinical evaluations...
January 15, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29351787/scl20a2-mutation-presenting-with-acute-ischemic-stroke-a-case-report
#9
Xiaoyu Zhang, Gaoting Ma, Zhangning Zhao, Meijia Zhu
BACKGROUND: Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION: A 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes...
January 19, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#10
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29344473/intractable-epilepsy-with-solitary-cerebral-calcification
#11
Kyoung Jin Hwang, Jiyoung Kim, Eun Yeon Joo, Seung Bong Hong, Seung-Chyul Hong, Dae Won Seo
Cerebral calcification is a common incidental finding upon brain imaging and its epileptogenicity is often underestimated. Here, we report a case of intractable epilepsy arising in conjunction with a solitary cerebral calcification. A 42-year-old male with intractable epilepsy was admitted to the epilepsy clinic for invasive epilepsy surgery. Brain magnetic resonance imaging revealed a slight high-intensity signal change in the right amygdala and a small, calcified lesion in the right lateral temporal region...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#12
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29334856/stroke-after-minor-head-trauma-in-infants-and-young-children-with-basal-ganglia-calcification-a-lenticulostriate-vasculopathy
#13
Jatinder Singh Goraya, Shivankshi Berry, Kavita Saggar, Archana Ahluwalia
The authors retrospectively reviewed charts of the children with basal ganglia stroke who either had preceding minor head injury or showed basal ganglia calcification on computed tomography (CT) scan. Twenty children, 14 boys and 6 girls were identified. Eighteen were aged between 7 months to 17 months. Presentation was with hemiparesis in 17 and seizures in 3. Preceding minor head trauma was noted in 18. Family history was positive in 1 case. Bilateral basal ganglia calcification on CT scan was noted in 18...
February 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29325620/primary-familial-brain-calcifications
#14
Beatriz Quintáns, Joao Oliveira, María-Jesús Sobrido
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29311619/in-situ-immune-response-and-mechanisms-of-cell-damage-in-central-nervous-system-of-fatal-cases-microcephaly-by-zika-virus
#15
Raimunda S S Azevedo, Jorge R de Sousa, Marialva T F Araujo, Arnaldo J Martins Filho, Bianca N de Alcantara, Fernanda M C Araujo, Maria G L Queiroz, Ana C R Cruz, Beatriz H Baldez Vasconcelos, Jannifer O Chiang, Lívia C Martins, Livia M N Casseb, Eliana V da Silva, Valéria L Carvalho, Barbara C Baldez Vasconcelos, Sueli G Rodrigues, Consuelo S Oliveira, Juarez A S Quaresma, Pedro F C Vasconcelos
Zika virus (ZIKV) has recently caused a pandemic disease, and many cases of ZIKV infection in pregnant women resulted in abortion, stillbirth, deaths and congenital defects including microcephaly, which now has been proposed as ZIKV congenital syndrome. This study aimed to investigate the in situ immune response profile and mechanisms of neuronal cell damage in fatal Zika microcephaly cases. Brain tissue samples were collected from 15 cases, including 10 microcephalic ZIKV-positive neonates with fatal outcome and five neonatal control flavivirus-negative neonates that died due to other causes, but with preserved central nervous system (CNS) architecture...
January 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29291210/the-role-of-the-placenta-in-prenatally-acquired-zika-virus-infection
#16
EDITORIAL
Mohammad Zare Mehrjardi, Farzaneh Shobeirian
Zika virus (ZIKV) is an arthropod-borne arbovirus from the family Flaviviridae, which has been recently confirmed to cause severe neurological abnormalities (such as microcephaly, brain parenchymal calcification, hydrocephalus, and malformations of cortical development) in the infected fetuses. The Placenta plays a multifold role in prenatally acquired ZIKV infection. It serves as a port of virus transmission to the fetus, and also can be directly affected by ZIKV leading to a diminished fetal blood supply or a disrupted/changed biological mediators' synthesis...
September 2017: Virusdisease
https://www.readbyqxmd.com/read/29288724/serum-fetuin-a-levels-in-patients-with-bilateral-basal-ganglia-calcification
#17
Bekir Enes Demiryurek, Asli Aksoy Gundogdu
BACKGROUND AND PURPOSE: The idiopathic basal ganglia calcification (Fahr syndrome) may occur due to senility. Fetuin-A is a negative acute phase reactant which inhibits calcium-phosphorus precipitation and vascular calcification. In this study, we aimed to evaluate whether serum fetuin-A levels correlate with bilateral basal ganglia calcification. METHOD: Forty-five patients who had bilateral basal ganglia calcification on brain CT were selected according to the inclusion and exclusion criteria, and 45 age and gender-matched subjects without basal ganglia calcification were included for the control group...
December 27, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29280334/retroperitoneal-ectopic-brain-case-report-and-literature-review
#18
Cristina Díaz Del Arco, Luis Ortega Medina, Issa Subhi-Issa Ahmad
Heterotopic neural tissue (HNT) has been identified in many sites. In our literature review, we have found only two cases of HNT located in the retroperitoneum. As far as we know, cytological features of HNT have not been described. We here report a case of retroperitoneal HNT diagnosed by fine-needle aspiration (FNA) cytology and subsequent resection. Our patient was a male infant born at 26 weeks' gestation. A retroperitoneal solid-cystic lesion measuring 3.8 cm was identified by abdominal ultrasound. FNA was performed and cytology showed highly cellular smears with single cells and masses of fibrillary material...
December 27, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29260032/longitudinal-clinical-and-neuro-radiological-findings-in-a-patient-with-leukoencephalopathy-with-brain-calcifications-and-cysts-labrune-syndrome
#19
Yasushi Iwasaki, Ken-Ichiro Hoshino, Keiko Mori, Masumi Ito, Yoshinari Kawai, Maya Mimuro, Tamao Tsukie, Takeshi Ikeuchi, Mari Yoshida
Since she was 4 years old, the patient had exhibited frequent convulsive seizures, and she experienced severe headaches and depression in adulthood. At the age of 37 years, cerebral calcifications were detected, but she exhibited no cognitive or motor problems. She suffered a cerebral haemorrhage at 49 years old and experienced cognitive dysfunction, dysarthria, dysphagia, and left-hemiparesis as sequelae. After undergoing gastrostomy, she exhibited very slow cognitive deterioration associated with speech disturbance over more than 10 years...
September 2017: ENeurologicalSci
https://www.readbyqxmd.com/read/29259030/optical-analysis-of-glioma-fourier-transform-infrared-spectroscopy-reveals-the-idh1-mutation-status
#20
Ortrud Uckermann, Tareq A Juratli, Roberta Galli, Marina Conde, Ralf Wiedemuth, Dietmar Krex, Kathrin D Geiger, Achim Temme, Gabriele Schackert, Edmund Koch, Gerald Steiner, Matthias Kirsch
PURPOSE: Somatic mutations in human cytosolic isocitrate dehydrogenase 1 (IDH1) gene cause profound changes in cell metabolism and are a common feature of gliomas with unprecedented predictive and prognostic impact. Fourier-transform infrared (FT-IR) spectroscopy addresses the molecular composition of cells and tissue and was investigated to deduct the IDH1-mutation status. EXPERIMENTAL DESIGN: We tested the technique on human cell lines that were transduced with IDH1 wild-type or mutated IDH1 and on 34 human glioma samples...
December 19, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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