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https://www.readbyqxmd.com/read/28431773/atypical-moyamoya-syndrome-with-brain-calcification-and-stenosis-of-abdominal-aorta-and-renal-arteries
#1
Hideki Uchikawa, Katsunori Fujii, Mayuko Fujita, Tomoko Okunushi, Naoki Shimojo
Moyamoya syndrome is a progressive cerebrovascular disease that is characterized by stenosis of the terminal portion of the internal carotid artery and its main branches, in combination with an accompanying disease. We herein describe an 8-year-old boy exhibiting transient loss of consciousness, who had recurrent seizures in infancy with progressive brain calcification. On admission, he was alert but magnetic resonance angiography showed bilateral stenosis of the whole internal carotid artery and proliferation of vascular collaterals, and brain CT revealed calcification on bilateral putamen...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28425047/can-anti-vascular-endothelial-growth-factor-antibody-reverse-radiation-necrosis-a-preclinical-investigation
#2
Chong Duan, Carlos J Perez-Torres, Liya Yuan, John A Engelbach, Scott C Beeman, Christina I Tsien, Keith M Rich, Robert E Schmidt, Joseph J H Ackerman, Joel R Garbow
Anti-vascular endothelial growth factor (anti-VEGF) antibodies are a promising new treatment for late time-to-onset radiation-induced necrosis (RN). We sought to evaluate and validate the response to anti-VEGF antibody in a mouse model of RN. Mice were irradiated with the Leksell Gamma Knife Perfexion™ and then treated with anti-VEGF antibody, beginning at post-irradiation (PIR) week 8. RN progression was monitored via anatomic and diffusion MRI from weeks 4-12 PIR. Standard histology, using haematoxylin and eosin (H&E), and immunohistochemistry staining were used to validate the response to treatment...
April 19, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28424147/treatment-of-leukoencephalopathy-with-calcifications-and-cysts-with-bevacizumab
#3
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. It is typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. Although leukoencephalopathy with calcifications and cysts affects only the central nervous system, it demonstrates remarkable neuropathologic and radiologic overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract, and bone...
March 23, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28422826/idiopathic-hypoparathyroidism-with-extensive-intracranial-calcification-in-children-first-report-from-saudi-arabia
#4
Naglaa M Kamal, Hamed A Alghamdi, Abdulrahman A Halabi, Ayman A Bakkar, Ali Algarni, Abdullah Alharbi, Abdulla A Alharthi, Rawan A Alharbi, Laila M Sherief
RATIONALE: Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases worldwide. PATIENT CONCERNS: An 11-year-old Saudi male child presented with tetany with otherwise normal neurological and other body system examination diagnoses severe hypocalcemia for differential diagnosis. INTERVENTIONS: Further investigations revealed hyperphosphatemia and undetectable serum intact parathyroid hormone...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28418820/case-241-hemiparkinsonism-hemiatrophy-spect-with-99m-tc-trodat-1-and-muscle-mr-imaging-abnormalities
#5
Thiago Cardoso Vale, Flávia Cristina de Lima Pinto, José Luiz Pedroso, Marília Alves Dos Reis, Ilza Rosa Batista, Rodrigo Affonseca Bressan, René Leandro Magalhães Rivero, Renato Adam Mendonça, Orlando G Barsottini
History A 43-year-old right-handed man presented with a history of progressive mild left-sided weakness and slowness of movements. Symptoms began 4 years earlier, and the patient noticed a progressive decline in his daily routine due to gait difficulties in the past year. There was no history of head trauma, surgery, drug therapy, smoking, or alcohol abuse, nor was there any relevant family history. Examination revealed normal cognition (29 of 30 points on the Mini-Mental State Examination and 27 of 30 points on the Montreal Cognitive Assessment) and normal cerebellar, sensory, cranial nerve, and autonomic function...
May 2017: Radiology
https://www.readbyqxmd.com/read/28397986/clinical-and-metabolic-correlates-of-cerebral-calcifications-in-sturge-weber-syndrome
#6
Vinod K Pilli, Michael E Behen, Jiani Hu, Yang Xuan, James Janisse, Harry T Chugani, Csaba Juhász
AIM: To evaluate clinical and metabolic correlates of cerebral calcifications in children with Sturge-Weber syndrome (SWS). METHOD: Fifteen children (11 females, four males; age range 7mo-9y, mean 4y 1mo) with unilateral SWS underwent baseline and follow-up magnetic resonance imaging (MRI) with susceptibility weighted imaging (SWI), glucose metabolism positron emission tomography (PET), and neurocognitive assessment (mean follow-up 1y 8mo). Calcified brain volumes measured on SWI were correlated with areas of abnormal glucose metabolism, seizure variables, and cognitive function (IQ)...
April 11, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28379216/nicorandil-attenuates-neuronal-mitochondrial-dysfunction-and-oxidative-stress-associated-with-murine-model-of-vascular-calcification
#7
Sriram Ravindran, Krithika Swaminathan, Abhinaya Ramesh, Gino A Kurian
Evidences suggest that the presence of chronic kidney disease (CKD) is associated with cerebrovascular diseases related cognitive decline in dialysis patients. As mitochondrial dysfunction is implicated in neurodegenerative disorders, we hypothesized that changes in brain mitochondria occur due to vascular calcification induced by renal failure and the opening of the mitochondrial potassium channel using nicorandil may prevent its dysfunction. Brain tissues from rats with vascular calcification were studied...
2017: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/28368078/genotyping-of-toxoplasma-gondii-strain-directly-from-human-csf-samples-of-congenital-toxoplasmosis-clinical-case
#8
Chiara Pagliuca, Gabiria Pastore, Elena Scaglione, Annalisa Migliucci, Giuseppe Maria Maruotti, Annunziata Gaetana Cicatiello, Elena Salvatore, Marco Picardi, Josè Camilla Sammartino, Maria Consiglio Buonocore, Pasquale Martinelli, Emilia Iaccarino, Roberta Colicchio, Paola Salvatore
This report describes a case of congenital toxoplasmosis in a newborn in Southern Italy. A pregnant mother had been admitted at the 20th week of her pregnancy on account of pharyngodynia and laterocervical lymphadenopathy. Although serological testing of the mother's serum documented a seroconversion with positive IgG and IgM anti-Toxoplasma antibodies during II trimester, the woman refused to perform prenatal diagnosis for congenital toxoplasmosis. Fetal ultrasound scan already showed mild asymmetrical triventricular hydrocephaly and cerebral calcifications...
April 3, 2017: New Microbiologica
https://www.readbyqxmd.com/read/28367383/multiple-calcifying-pseudoneoplasms-of-the-neuraxis
#9
Leonardo B Brasiliense, Dennis W Dickson, Raouf E Nakhleh, Rabih G Tawk, Robert Wharen
Calcifying pseudoneoplasms of the neuraxis (CAPNONs) are extremely rare tumors that are frequently misdiagnosed and overlooked by clinicians. To date, only 40 intracranial lesions have been reported, and in all instances, they were found as a solitary calcified mass. To our knowledge, the current case report is the first to illustrate the development of multiple intraaxial CAPNONs and shed more light on the origin of these lesions. We discuss the case of a 67-year-old woman who presented with a six-year history of recurrent seizures...
February 21, 2017: Curēus
https://www.readbyqxmd.com/read/28364011/spectrum-of-spinal-cord-spinal-root-and-brain-mri-abnormalities-in-congenital-zika-syndrome-with-and-without-arthrogryposis
#10
M F V V Aragao, A M Brainer-Lima, A C Holanda, V van der Linden, L Vasco Aragão, M L M Silva, C Sarteschi, N C L Petribu, M M Valença
BACKGROUND AND PURPOSE: Arthrogryposis is among the malformations of congenital Zika syndrome. Similar to the brain, there might exist a spectrum of spinal cord abnormalities. The purpose of this study was to explore and describe in detail the MR imaging features found in the spinal cords, nerve roots, and brains of children with congenital Zika syndrome with and without arthrogryposis. MATERIALS AND METHODS: Twelve infants with congenital Zika syndrome (4 with arthrogryposis and 8 without) who had undergone brain and spinal cord MR imaging were retrospectively selected...
March 31, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28352499/metastatic-prostate-adenocarcinoma-to-the-brain-case-reports-and-literature-review
#11
Alexander Lam, Peter Y C Gan
Cerebral metastasis secondary to prostatic adenocarcinoma is rare and it is usually a late complication in patients with widespread distant metastases. Here, we report two unusual cases of such a rare condition. Our first case presented with a large frontal contrast-enhancing lesion-associated calcification and a large tumor cyst as shown on computed tomography and magnetic resonance imaging. This is the fifth reported case of prostatic metastasis manifesting as a cystic intraparenchymal tumor in the literature...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28345671/spatiotemporal-expression-of-osteopontin-in-the-striatum-of-rats-subjected-to-the-mitochondrial-toxin-3-nitropropionic-acid-correlates-with-microcalcification
#12
Tae-Ryong Riew, Hong Lim Kim, Xuyan Jin, Jeong-Heon Choi, Yoo-Jin Shin, Ji Soo Kim, Mun-Yong Lee
Our aim was to elucidate whether osteopontin (OPN) is involved in the onset of mineralisation and progression of extracellular calcification in striatal lesions due to mitochondrial toxin 3-nitropropionic acid exposure. OPN expression had two different patterns when observed using light microscopy. It was either localised to the Golgi complex in brain macrophages or had a small granular pattern scattered in the affected striatum. OPN labelling tended to increase in number and size over a 2-week period following the lesion...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#13
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#14
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
March 23, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28329257/lessons-learned-at-the-epicenter-of-brazil-s-congenital-zika-epidemic-evidence-from-87-confirmed-cases
#15
Jucille do Amaral Meneses, Ana Catarina Ishigami, Luisa Medeiros de Mello, Luciano Lira de Albuquerque, Carlos Alexandre Antunes de Brito, Marli Tenório Cordeiro, Lindomar José Pena
Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV specific antibodies and sera were screened for other congenital infections...
February 24, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28324197/the-spectrum-of-magnetic-resonance-findings-in-cerebrotendinous-xanthomatosis-redefinition-and-evidence-of-new-markers-of-disease-progression
#16
Andrea Mignarri, Maria Teresa Dotti, Antonio Federico, Nicola De Stefano, Marco Battaglini, Irene Grazzini, Paolo Galluzzi, Lucia Monti
Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients. Sixteen of them who were untreated at baseline examination underwent clinical and MRI follow-up after long-term treatment with CDCA...
March 21, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28318955/calcified-amorphous-tumor-causing-shower-embolism-to-the-brain-a-case-report-with-serial-echocardiographic-and-neuroradiologic-images-and-a-review-of-the-literature
#17
Takaomi Singu, Yuichiro Inatomi, Toshiro Yonehara, Yukio Ando
An 89-year-old woman with chronic atrial fibrillation, hypertension, chronic heart failure, and dementia was admitted to our hospital due to multiple small cerebral and cerebellar infarctions. Transthoracic echocardiogram revealed a floating calcified mass lesion arising from the endocardium of the posterior portion of the mitral annulus with mitral annular calcification. Furthermore, the mass had a heterogeneity of the echogenicity. The mass was diagnosed as a calcified amorphous tumor based on specific echocardiographic features...
March 15, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28318403/familial-cerebral-cavernous-malformations-are-associated-with-adrenal-calcifications-on-ct-scans-an-imaging-biomarker-for-a-hereditary-cerebrovascular-condition
#18
Corinne D Strickland, Steven C Eberhardt, Mary R Bartlett, Jeffrey Nelson, Helen Kim, Leslie A Morrison, Blaine L Hart
Purpose To determine if adrenal calcifications seen at computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common Hispanic Mutation. Materials and Methods This study was approved by the institutional review board. The authors retrospectively reviewed abdominal CT scans in 38 patients with fCCM, 38 unaffected age- and sex-matched control subjects, and 13 patients with sporadic, nonfamilial cerebral cavernous malformation (CCM). The size, number, and laterality of calcifications and the morphologic characteristics of the adrenal gland were recorded...
March 20, 2017: Radiology
https://www.readbyqxmd.com/read/28303467/mir-9-5p-down-regulates-pit2-but-not-pit1-in-human-embryonic-kidney-293-cells
#19
D P Paiva, M Keasey, J R M Oliveira
Inorganic phosphate (Pi) is an essential component for structure and metabolism. PiT1 (SLC20A1) and PiT2 (SLC20A2) are members of the mammalian type-III inorganic phosphate transporters. SLC20A2 missense variants are associated with primary brain calcification. MicroRNAs (miRNAs) are endogenous noncoding regulatory RNAs, which play important roles in post-transcriptional gene regulation. MicroRNA-9 (miR-9) acts at different stages of neurogenesis, is deeply rooted in gene networks controlling the regulation of neural progenitor proliferation, and is also linked with cancers outside the nervous system...
March 16, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28298627/novel-mutations-of-pdgfrb-cause-primary-familial-brain-calcification-in-chinese-families
#20
Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Qi-Jie Zhang, Ning Wang, Wan-Jin Chen
Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). However, PDGFRB mutations seem to be quite rare and no PDGFRB mutations have been reported in Chinese PFBC patients. A total of 146 PFBC patients including 12 families and 134 sporadic patients were recruited in this study...
March 16, 2017: Journal of Human Genetics
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