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https://www.readbyqxmd.com/read/29910000/biallelic-mutations-in-myorg-cause-autosomal-recessive-primary-familial-brain-calcification
#1
Xiang-Ping Yao, Xuewen Cheng, Chong Wang, Miao Zhao, Xin-Xin Guo, Hui-Zhen Su, Lu-Lu Lai, Xiao-Huan Zou, Xue-Jiao Chen, Yuying Zhao, En-Lin Dong, Ying-Qian Lu, Shuang Wu, Xiaojuan Li, Gaofeng Fan, Hongjie Yu, Jianfeng Xu, Ning Wang, Zhi-Qi Xiong, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction...
June 6, 2018: Neuron
https://www.readbyqxmd.com/read/29894334/brain-metastasis-of-medullary-thyroid-carcinoma-without-macroscopic-calcification-detected-first-on-68ga-dotatate-and-then-on-18f-fluoride-pet-ct
#2
Paulo Schiavom Duarte, José Flávio Gomes Marin, José Willegaignon De Amorim De Carvalho, Marcelo Tatit Sapienza, Carlos Alberto Buchpiguel
We report a case of a medullary thyroid carcinoma noncalcified brain metastasis characterized on Ga-dotatate PET/CT but not on an F-fluoride PET/CT performed 1 month later. Subsequent F-fluoride PET/CT studies performed 7 and 19 months after the Ga-dotatate PET/CT study demonstrated focal uptake in the metastasis. The CT images of the last PET/CT study also depicted a small focus of calcification beginning in the metastatic site.
June 12, 2018: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29893650/hippocampal-calcifications-risk-factors-and-association-with-cognitive-function
#3
Esther J M de Brouwer, Remko Kockelkoren, Jules J Claus, Annemarieke de Jonghe, Mirjam I Geerlings, Thomas E F Jongsma, Willem P T M Mali, Jeroen Hendrikse, Pim A de Jong, Huiberdina L Koek
Purpose To identify risk factors for hippocampal calcifications and to investigate the association between hippocampal calcifications and cognitive function. Materials and Methods For this retrospective study, consecutive patients visiting a memory clinic at a Dutch general hospital between April 2009 and April 2015 were identified. All individuals underwent a standard diagnostic work-up including cognitive tests and brain CT. The following vascular risk factors were assessed: hypertension, diabetes mellitus, hyperlipidemia, and smoking...
June 12, 2018: Radiology
https://www.readbyqxmd.com/read/29876705/superficial-and-multiple-calcifications-and-ulceration-associate-with-intraplaque-hemorrhage-in-the-carotid-atherosclerotic-plaque
#4
Jia Yang, Xiangjun Pan, Bai Zhang, Yanhong Yan, Yabo Huang, Adam K Woolf, Jonathan H Gillard, Zhongzhao Teng, Pinjing Hui
OBJECTIVE: Intraplaque hemorrhage (IPH) and ulceration of carotid atherosclerotic plaques have been associated with vulnerability while calcification has been conventionally thought protective. However, studies suggested calcification size and location may increase plaque vulnerability. This study explored the association between calcium configurations and ulceration with IPH. METHODS: One hundred thirty-seven consecutive symptomatic patients scheduled for carotid endarterectomy were recruited...
June 6, 2018: European Radiology
https://www.readbyqxmd.com/read/29875203/acute-and-chronic-neurological-consequences-of-early-life-zika-virus-infection-in-mice
#5
Isis Nem de Oliveira Souza, Paula S Frost, Julia V França, Jéssica B Nascimento-Viana, Rômulo L S Neris, Leandro Freitas, Daniel J L L Pinheiro, Clara O Nogueira, Gilda Neves, Leila Chimelli, Fernanda G De Felice, Ésper A Cavalheiro, Sergio T Ferreira, Iranaia Assunção-Miranda, Claudia P Figueiredo, Andrea T Da Poian, Julia R Clarke
Although congenital Zika virus (ZIKV) exposure has been associated with microcephaly and other neurodevelopmental disorders, long-term consequences of perinatal infection are largely unknown. We evaluated short- and long-term neuropathological and behavioral consequences of neonatal ZIKV infection in mice. ZIKV showed brain tropism, causing postnatal-onset microcephaly and several behavioral deficits in adulthood. During the acute phase of infection, mice developed frequent seizures, which were reduced by tumor necrosis factor-α (TNF-α) inhibition...
June 6, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29850273/desmoplastic-fibroma-recurrence-associated-with-tuberous-sclerosis-in-a-young-patient
#6
A M Espinoza-Coronado, J P Loyola-Rodríguez, J H Olvera-Delgado, J O García-Cortes, J F Reyes-Macías
Case Report . A nine-year-old patient with a diagnosis of tuberous sclerosis (with no pathological record) that showed calcifications at the brain level. Besides, the case showed the Vogt triad (epilepsy, mental retardation, and sebaceous adenoma). The patient clinically showed a volume increase of hard consistency, without suppuration and no sessile that included the following teeth 73, 74, and 75. Cone beam computed tomography (CBCT) was obtained, and it displayed a delimited unilocular lesion. After surgical excision, the histopathological report was desmoplastic fibroma (DF)...
2018: Case Reports in Dentistry
https://www.readbyqxmd.com/read/29849962/susceptibility-weighted-imaging-clinical-applications-and-future-directions
#7
REVIEW
Ahmet Mesrur Halefoglu, David Mark Yousem
Susceptibility weighted imaging (SWI) is a recently developed magnetic resonance imaging (MRI) technique that is increasingly being used to narrow the differential diagnosis of many neurologic disorders. It exploits the magnetic susceptibility differences of various compounds including deoxygenated blood, blood products, iron and calcium, thus enabling a new source of contrast in MR. In this review, we illustrate its basic clinical applications in neuroimaging. SWI is based on a fully velocity-compensated, high-resolution, three dimensional gradient-echo sequence using magnitude and phase images either separately or in combination with each other, in order to characterize brain tissue...
April 28, 2018: World Journal of Radiology
https://www.readbyqxmd.com/read/29843259/unusual-complication-of-fulminant-congenital-cytomegalovirus-infection
#8
T Arun Babu, Y Soliman, K Mohammad
Persistent pulmonary hypertension of newborn (PPHN) is a very rare manifestation of congenital cytomegalovirus (CMV) infection. PPHN associated with CMV can be severe but is usually transient and responds well to antiviral therapy. We report a rare case of PPHN that occurred in the setting of fulminant congenital CMV infection and successful treatment with antiviral therapy along with review of the very few cases reported in literature. A male appropriate for gestational Age (AGA) newborn developed rapidly progressive respiratory distress starting at 11 hours of life requiring ventilatory support and 100% oxygen...
May 23, 2018: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/29803831/mice-knocked-out-for-the-primary-brain-calcification-associated-gene-slc20a2-show-unimpaired-pre-natal-survival-but-retarded-growth-and-nodules-in-the-brain-that-grow-and-calcify-over-time
#9
Nina Jensen, Henrik D Schrøder, Eva K Hejbøl, Jesper S Thomsen, Annemarie Brüel, Frederik T Larsen, Mikkel C Vinding, Dariusz Orlowski, Ernst-Martin Füchtbauer, João Rm Oliveira, Lene Pedersen
Brain calcification of especially the basal ganglia characterises primary familial brain calcification (PFBC). PFBC is a rare neurodegenerative disorder with neuropsychiatric and motor symptoms, and only symptomatic treatment is available. Four PFBC-associated genes are known; about 40% of patients carry mutations in the gene SLC20A2, which encodes the type III sodium-dependent inorganic phosphate transporter PiT2. To investigate the role of PiT2 in PFBC development, we studied Slc20a2-knockout (KO) mice using histology, micro-computed tomography, electron microscopy (EM), and energy-dispersive X-ray spectroscopy...
May 24, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29803545/a-multidisciplinary-consensus-for-clinical-care-and-research-needs-for-sturge-weber-syndrome
#10
REVIEW
Alejandro J De la Torre, Aimee F Luat, Csaba Juhász, Mai Lan Ho, Davis P Argersinger, Kara M Cavuoto, Mabel Enriquez-Algeciras, Stephanie Tikkanen, Paula North, Craig N Burkhart, Harry T Chugani, Karen L Ball, Anna Lecticia Pinto, Jeffrey A Loeb
BACKGROUND: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions. METHODS: On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs...
April 18, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29782060/autosomal-dominant-early-onset-spastic-paraparesis-with-brain-calcification-due-to-ifih1-gain-of-function
#11
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification in all symptomatic family members. A marked upregulation of interferon stimulated gene (ISG) transcripts was recorded in all three affected individuals and in two clinically unaffected relatives...
May 21, 2018: Human Mutation
https://www.readbyqxmd.com/read/29780907/calcified-amorphous-tumor-a-rare-cause-of-central-retinal-artery-occlusion
#12
Jeffrey H Ma, Manjot K Gill
Purpose: We report the case of a central retinal artery occlusion secondary to presumed embolus from a calcified amorphous tumor of the heart, a very rare non-neoplastic cardiac mass. Observations: A 60-year-old female presented with acute unilateral vision loss of the left eye. Examination revealed hand motion visual acuity of the left eye and a left relative afferent pupillary defect. Fundoscopy showed whitening of the macula with a cherry red spot, consistent with a central retinal artery occlusion...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29763350/fluoride-exposure-in-early-life-as-the-possible-root-cause-of-disease-in-later-life
#13
Tetsuo Nakamoto, H Ralph Rawls
Fluoride, one of the most celebrated ingredients for the prevention of dental caries in the 20th century, has also been controversial for its use in dentifrices and other applications. In the current review, we have concentrated primarily on early-life exposure to fluoride and how it may affect the various organs. The most recent controversial aspects of fluoride are related to toxicity of the developing brain and how it may possibly result in the decrease of intelligence quotient (IQ), autism, and calcification of the pineal gland...
May 15, 2018: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29750809/histological-validation-of-calcifications-in-the-human-hippocampus-as-seen-on-computed-tomography
#14
Melissa E M Peters, Remko Kockelkoren, Esther J M de Brouwer, Huiberdina L Koek, Ronald L A W Bleys, Willem P Th M Mali, Jeroen Hendrikse, Annemieke M Rozemuller, Pim A de Jong
BACKGROUND: Calcifications within the hippocampus were recently described for the first time on computed tomography (CT). These calcifications appeared in patients older than 50 years, the prevalence increases with age and they may be associated with cognitive decline. The aim of this study was to determine the histological basis (the presence, severity and location) of these CT-detected hippocampal calcifications of post-mortem brains. METHODS: CT scans of seven post-mortem brains were scored for the presence and severity (mild, moderate, severe) of hippocampal calcification...
2018: PloS One
https://www.readbyqxmd.com/read/29742058/neurological-manifestations-in-autoinflammatory-diseases
#15
REVIEW
Antonio Uccelli, Marco Gattorno
Autoinflammatory diseases (AIDs) are a distinct group of diseases characterised by a dysregulation of the innate immune response leading to systemic inflammation. The clinical spectrum of these conditions is extremely variable and possibly every system and tissue can be involved, including the central nervous system (CNS). Indeed, neurological manifestations may dominate the clinical picture from disease onset in some rare conditions. However, the involvement of the CNS in AIDs is not a disease in itself, but represents a rare complication which is consequent to a systemic or local immune response, mainly involving cells of the innate immunity...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29698814/zika-and-the-eye-pieces-of-a-puzzle
#16
REVIEW
João Rafael de Oliveira Dias, Camila V Ventura, Bruno de Paula Freitas, Juliana Prazeres, Liana O Ventura, Vasco Bravo-Filho, Tomas Aleman, Albert Icksang Ko, Andréa Zin, Rubens Belfort, Mauricio Maia
Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV...
April 24, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29688240/nanoscale-synchrotron-x-ray-speciation-of-iron-and-calcium-compounds-in-amyloid-plaque-cores-from-alzheimer-s-disease-subjects
#17
James Everett, Joanna F Collingwood, Vindy Tjendana-Tjhin, Jake Brooks, Frederik Lermyte, Germán Plascencia-Villa, Ian Hands-Portman, Jon Dobson, George Perry, Neil D Telling
Altered metabolism of biometals in the brain is a key feature of Alzheimer's disease, and biometal interactions with amyloid-β are linked to amyloid plaque formation. Iron-rich aggregates, including evidence for the mixed-valence iron oxide magnetite, are associated with amyloid plaques. To test the hypothesis that increased chemical reduction of iron, as observed in vitro in the presence of aggregating amyloid-β, may occur at sites of amyloid plaque formation in the human brain, the nanoscale distribution and physicochemical states of biometals, particularly iron, were characterised in isolated amyloid plaque cores from human Alzheimer's disease cases using synchrotron X-ray spectromicroscopy...
April 24, 2018: Nanoscale
https://www.readbyqxmd.com/read/29682509/initiation-and-propagation-of-vascular-calcification-is-regulated-by-a-concert-of-platelet-and-smooth-muscle-cell-derived-extracellular-vesicles
#18
Leon J Schurgers, Asim C Akbulut, Dawid M Kaczor, Maurice Halder, Rory R Koenen, Rafael Kramann
The ageing population continues to suffer from its primary killer, cardiovascular disease (CVD). Despite recent advances in interventional medicinal and surgical therapies towards the end of the 20th century, the epidemic of cardiovascular disease has not been halted. Yet, rather than receding globally, the burden of CVD has risen to become a top cause of morbidity and mortality worldwide. Most CVD arises from thrombotic rupture of an atherosclerotic plaque, the pathologic thickening of coronary and carotid artery segments and subsequent distal ischemia in heart or brain...
2018: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29681488/brain-magnetic-resonance-imaging-findings-of-congenital-cytomegalovirus-infection-as-a-prognostic-factor-for-neurological-outcome
#19
Minsun Kwak, Mi-Sun Yum, Hye-Ryun Yeh, Hyun-Jin Kim, Tae-Sung Ko
BACKGROUND: The aim of this study is to predict the neurological outcomes of patients with congenital cytomegalovirus infection by analysis of magnetic resonance images of the brain. METHODS: From June 2007 to June 2016, 31 patients were diagnosed with symptomatic congenital cytomegalovirus infection at Asan Medical Center. The medical records and magnetic resonance imaging (MRI) findings of these patients were reviewed, and the relationships between MRI findings and neurological outcomes were analyzed...
June 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29680161/anticipation-in-a-family-with-primary-familial-brain-calcification-caused-by-an-slc20a2-variant
#20
Takuya Konno, Patrick R Blackburn, Todd D Rozen, Jay A van Gerpen, Owen A Ross, Paldeep S Atwal, Zbigniew K Wszolek
AIM OF THE STUDY: To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. MATERIALS AND METHODS: We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members...
April 11, 2018: Neurologia i Neurochirurgia Polska
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