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https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28296742/pseudohypoparathyroidism-with-basal-ganglia-calcification-a-case-report-of-rare-cause-of-reversible-parkinsonism
#9
Cheng-Yuan Song, Zhen-Xiang Zhao, Wei Li, Cong-Cong Sun, Yi-Ming Liu
RATIONALE: Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium. PATIENT CONCERNS AND DIAGNOSES: A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28292204/a-national-survey-of-the-management-of-patients-with-incidental-meningioma-in-the-united-kingdom
#10
Mujtaba H Mohammad, Emmanuel Chavredakis, Rasheed Zakaria, Andrew Brodbelt, Michael D Jenkinson
BACKGROUND: Incidental meningiomas are increasingly being diagnosed due to widespread use of brain imaging. Treatment options include surveillance, surgery and stereotactic radiosurgery, but the natural history of these tumours is not fully understood and there are no accepted management guidelines to aid clinical decision-making. The aim of this study was to assess current practice in the United Kingdom and identify areas of variation for further study. METHODS: A questionnaire was distributed to all members of the Society of British Neurosurgeons (SBNS)...
March 15, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28288452/fetal-magnetic-resonance-imaging-findings-in-prenatal-zika-virus-infection
#11
José Enrique Sanín-Blair, Carolina Gutiérrez-Márquez, Diego A Herrera, Arastoo Vossough
Brain lesions and malformations have been described on ultrasonography of prenatal Zika infection; however, there are scarce reports about fetal magnetic resonance (MR) findings. We report 3 cases of fetuses with confirmed intrauterine Zika virus infection evaluated by ultrasound and fetal MR. Various morphometric measurements were assessed and brain maturation was calculated with the fetal total maturation score. Fetuses with prenatal Zika virus infection showed retardation in brain maturation indexes evaluated by fetal MR...
March 14, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28278291/diagnostic-accuracy-of-susceptibility-weighted-magnetic-resonance-imaging-for-the-evaluation-of-pineal-gland-calcification
#12
Lisa C Adams, Sarah M Böker, Yvonne Y Bender, Gerd Diederichs, Eva M Fallenberg, Moritz Wagner, Bernd Hamm, Marcus R Makowski
OBJECTIVES: To determine the diagnostic performance of susceptibility-weighted magnetic resonance imaging (SWMR) for the detection of pineal gland calcifications (PGC) compared to conventional magnetic resonance imaging (MRI) sequences, using computed tomography (CT) as a reference standard. METHODS: 384 patients who received a 1.5 Tesla MRI scan including SWMR sequences and a CT scan of the brain between January 2014 and October 2016 were retrospectively evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/28259914/dynamics-of-mmp%C3%A2-9-mmp%C3%A2-2-and-timp%C3%A2-1-in-a-rat-model-of-brain-injury-combined-with-traumatic-heterotopic-ossification
#13
Wei-Zhe Shi, Jin-Yong Ju, Hai-Jun Xiao, Feng Xue, Jiang Wu, Ming-Mang Pan, Wei-Feng Ni
The present study aimed to detect early changes in the concentration of matrix metalloproteinase-9 (MMP-9), matrix metalloproteinase‑2 (MMP‑2) and tissue inhibitor of metalloproteinase‑1 (TIMP‑1) in a rat model of brain injury combined with traumatic heterotopic ossification (HO). A total of 132 male Sprague‑Dawley rats were used to establish the experimental and control groups. Anatomy and sample collection were conducted on postoperative days 1, 2, 3, 4, 5, 6 and 7. Hematoxylin and eosin and immunohistochemical staining were performed for local tissues...
March 1, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28256436/parkinsonian-pyramidal-syndromes-a-systematic-review
#14
REVIEW
Christine Tranchant, Meriam Koob, Mathieu Anheim
INTRODUCTION: Parkinsonian-Pyramidal syndrome (PPS), defined as the combination of both pyramidal and parkinsonian signs is a concept that recently emerged. PPS may manifest itself in numerous neurodegenerative diseases, many of these being inherited. Their diagnosis is a major challenge for the clinical management, for the prognosis, for genetic counselling and, in a few cases, which should not be neglected, for specific treatment. OBJECTIVE: Our objective is to provide a review of PPS and an algorithm in order to guide their diagnosis in clinical practice...
February 22, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28228797/femoral-neck-s-fracture-in-fahr-s-syndrome-case-report
#15
Marcello Sallì, Antonio D'Arienzo, Mariella Bonanno, Salvatore Morello, Antonino Sanfilippo, Giulia Letizia Mauro, Michele D'Arienzo
Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28210710/microangiopathy-in-primary-familial-brain-calcification-evidence-from-skin-biopsies
#16
Gaël Nicolas, Florent Marguet, Annie Laquerrière, João Ricardo Mendes de Oliveira, Didier Hannequin
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28196941/histopathological-differences-between-the-anterior-and-posterior-brain-arteries-as-a-function-of-aging
#17
William Roth, Susan Morgello, James Goldman, Jay P Mohr, Mitchell S V Elkind, Randolph S Marshall, Jose Gutierrez
BACKGROUND AND PURPOSE: We tested the hypothesis that posterior brain arteries differ pathologically from anterior brain arteries and that this difference varies with age. METHODS: Brain large arteries from 194 autopsied individuals (mean age 56±17 years, 63% men, 25% nonwhite, 17% with brain infarcts) were analyzed to obtain the areas of arterial layers and lumen as well as the relative content of elastin, collagen, and amyloid. Visual rating was used to determine the prevalence of atheroma, calcification, vasa vasorum, pattern of intima thickening, and internal elastic lamina gaps...
March 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28192888/computed-tomography-morphologic-features-of-pulmonary-adenocarcinoma-with-brain-bone-metastasis
#18
Ki-Eun Hwang, Su-Jin Oh, Chul Park, Se-Jeong Jeon, Jeong-Mi Lee, Byong-Ki Cha, Kwon-Ha Yoon, Eun-Taik Jeong, Hak-Ryul Kim
Background/Aims: Brain and bone metastases are common in patients with lung cancer. The development of metastasis is associated with poor survival in lung cancer patients. Although tumor morphologic features on radiographs are routinely assessed for differentiation between benign and malignant lung nodules, they are not used to predict metastasis. We assessed morphologic features of pulmonary adenocarcinomas with brain/bone metastasis on computed tomography (CT) to identify related factors for metastasis...
February 15, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28177126/identification-of-novel-snord118-mutations-in-seven-patients-with-leukoencephalopathy-with-brain-calcifications-and-cysts
#19
Kazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-Ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto
Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered the same clinical entity that was termed cerebroretinal microangiopathy with calcifications and cysts, but evidence now suggests that they are genetically distinct...
February 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28162874/deconstructing-fahr-s-disease-syndrome-of-brain-calcification-in-the-era-of-new-genes
#20
REVIEW
Amit Batla, Xin You Tai, Lucia Schottlaender, Robert Erro, Bettina Balint, Kailash P Bhatia
INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined...
December 27, 2016: Parkinsonism & related Disorders
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