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[PMID]:27777260
[Au] Autor:Fasken MB; Losh JS; Leung SW; Brutus S; Avin B; Vaught JC; Potter-Birriel J; Craig T; Conn GL; Mills-Lujan K; Corbett AH; van Hoof A
[Ad] Endereço:Department of Biology, Emory University, Atlanta, Georgia 30322.
[Ti] Título:Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.
[So] Source:Genetics;205(1):221-237, 2017 01.
[Is] ISSN:1943-2631
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pontocerebellar hypoplasia type 1b (PCH1b) is an autosomal recessive disorder that causes cerebellar hypoplasia and spinal motor neuron degeneration, leading to mortality in early childhood. PCH1b is caused by mutations in the RNA exosome subunit gene, EXOSC3 The RNA exosome is an evolutionarily conserved complex, consisting of nine different core subunits, and one or two 3'-5' exoribonuclease subunits, that mediates several RNA degradation and processing steps. The goal of this study is to assess the functional consequences of the amino acid substitutions that have been identified in EXOSC3 in PCH1b patients. To analyze these EXOSC3 substitutions, we generated the corresponding amino acid substitutions in the Saccharomyces cerevisiae ortholog of EXOSC3, Rrp40 We find that the rrp40 variants corresponding to EXOSC3-G31A and -D132A do not affect yeast function when expressed as the sole copy of the essential Rrp40 protein. In contrast, the rrp40-W195R variant, corresponding to EXOSC3-W238R in PCH1b patients, impacts cell growth and RNA exosome function when expressed as the sole copy of Rrp40 The rrp40-W195R protein is unstable, and does not associate efficiently with the RNA exosome in cells that also express wild-type Rrp40 Consistent with these findings in yeast, the levels of mouse EXOSC3 variants are reduced compared to wild-type EXOSC3 in a neuronal cell line. These data suggest that cells possess a mechanism for optimal assembly of functional RNA exosome complex that can discriminate between wild-type and variant exosome subunits. Budding yeast can therefore serve as a useful tool to understand the molecular defects in the RNA exosome caused by PCH1b-associated amino acid substitutions in EXOSC3, and potentially extending to disease-associated substitutions in other exosome subunits.
[Mh] Termos MeSH primário: Doenças Cerebelares/genética
Complexo Multienzimático de Ribonucleases do Exossomo/genética
Mutação
Saccharomyces cerevisiae/genética
[Mh] Termos MeSH secundário: Doenças Cerebelares/metabolismo
Exorribonucleases/genética
Exorribonucleases/metabolismo
Complexo Multienzimático de Ribonucleases do Exossomo/metabolismo
Estabilidade de RNA
Proteínas de Ligação a RNA/genética
Proteínas de Ligação a RNA/metabolismo
Saccharomyces cerevisiae/metabolismo
Proteínas de Saccharomyces cerevisiae/genética
Proteínas de Saccharomyces cerevisiae/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (RNA-Binding Proteins); 0 (Saccharomyces cerevisiae Proteins); EC 3.1.- (Exoribonucleases); EC 3.1.- (Exosome Multienzyme Ribonuclease Complex); EC 3.1.- (Rrp40 protein, S cerevisiae)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161027
[St] Status:MEDLINE
[do] DOI:10.1534/genetics.116.195917


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[PMID]:28987056
[Au] Autor:Starowicz-Filip A; Chrobak AA; Moskala M; Krzyzewski RM; Kwinta B; Kwiatkowski S; Milczarek O; Rajtar-Zembaty A; Przewoznik D
[Ad] Endereço:Zaklad Psychologii Lekarskiej Katedry Psychiatrii, UJ CM.
[Ti] Título:The role of the cerebellum in the regulation of language functions.
[Ti] Título:Rola mózdzku w regulacji funkcji jezykowych..
[So] Source:Psychiatr Pol;51(4):661-671, 2017 Aug 29.
[Is] ISSN:2391-5854
[Cp] País de publicação:Poland
[La] Idioma:eng; pol
[Ab] Resumo:The present paper is a review of studies on the role of the cerebellum in the regulation of language functions. This brain structure until recently associated chiefly with motor skills, visual-motor coordination and balance, proves to be significant also for cognitive functioning. With regard to language functions, studies show that the cerebellum determines verbal fluency (both semantic and formal) expressive and receptive grammar processing, the ability to identify and correct language mistakes, and writing skills. Cerebellar damage is a possible cause of aphasia or the cerebellar mutism syndrome (CMS). Decreased cerebellocortical connectivity as well as anomalies in the structure of the cerebellum are emphasized in numerous developmental dyslexia theories. The cerebellum is characterized by linguistic lateralization. From the neuroanatomical perspective, its right hemisphere and dentate nucleus, having multiple cerebellocortical connections with the cerebral cortical language areas, are particularly important for language functions. Usually, language deficits developed as a result of a cerebellar damage have subclinical intensity and require applying sensitive neuropsychological diagnostic tools designed to assess higher verbal functions.
[Mh] Termos MeSH primário: Cerebelo/fisiologia
Cognição/fisiologia
Desenvolvimento da Linguagem
[Mh] Termos MeSH secundário: Atenção/fisiologia
Doenças Cerebelares/fisiopatologia
Seres Humanos
Memória/fisiologia
Desempenho Psicomotor/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171008
[St] Status:MEDLINE


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[PMID]:28981123
[Au] Autor:Askoxylakis V; Badeaux M; Roberge S; Batista A; Kirkpatrick N; Snuderl M; Amoozgar Z; Seano G; Ferraro GB; Chatterjee S; Xu L; Fukumura D; Duda DG; Jain RK
[Ad] Endereço:Edwin L. Steele Laboratories, Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
[Ti] Título:A cerebellar window for intravital imaging of normal and disease states in mice.
[So] Source:Nat Protoc;12(11):2251-2262, 2017 Nov.
[Is] ISSN:1750-2799
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The cerebellum is a prominent part of the vertebrate hindbrain that is critically involved in the regulation of important body functions such as movement coordination, maintenance of balance and posture, and motor control. Here, we describe a cerebellar window that provides access to the mouse cerebellum for intravital imaging, thereby allowing for a detailed characterization of the dynamic processes in this region of the brain. First, the skull overlying the cerebellum is removed, and then the window is applied to the region of interest. Windows may be exchanged depending on the desired imaging modality. This technique has a variety of applications. In the setting of medulloblastoma, spontaneous or orthotopically implanted lesions can be imaged, and tumor morphology and size can be monitored using ultrasonography. Multiphoton laser-scanning microscopy (MPLSM) or optical-frequency-domain imaging (OFDI) can be applied for in vivo visualization and analysis of cellular and vascular structures in a variety of disease states, including malignancies and ataxia telangiectasia. This protocol describes a novel and rapid method for cerebellar window construction that can be set up in under an hour.
[Mh] Termos MeSH primário: Doenças Cerebelares/diagnóstico por imagem
Cerebelo/diagnóstico por imagem
Cerebelo/cirurgia
Microscopia Intravital/métodos
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Camundongos
Camundongos Nus
Camundongos SCID
Microscopia de Fluorescência por Excitação Multifotônica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171006
[St] Status:MEDLINE
[do] DOI:10.1038/nprot.2017.101


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[PMID]:28889839
[Au] Autor:Khongrum J; Wattanathorn J
[Ad] Endereço:Department of Physiology (Neuroscience Program), Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand; Integrative Complementary Alternative Medicine Research and Development Center, Khon Kaen University, Khon Kaen, Thailand.
[Ti] Título:Laser Acupuncture at HT7 Improves the Cerebellar Disorders in Valproic Acid-Rat Model of Autism.
[So] Source:J Acupunct Meridian Stud;10(4):231-239, 2017 Aug.
[Is] ISSN:2093-8152
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:The novel therapeutic strategy against autism is essential due to the limited therapeutic efficacy. Based on the benefit of laser acupuncture at HT7 acupoint on the neurological disorders related with oxidative stress and inflammation, its benefit on oxidative stress, neuroinflammation, and GABAergic/glutamatergic imbalance in cerebellum of autism have been considered. To elucidate this issue, male rat pups were induced autistic-like conditions by valproic acid (VPA) and treated with laser acupuncture at HT7 acupoint once daily between postnatal Day 14 and Day 40. At the end of study, the changes of oxidative stress markers, the expressions of cytokines interleukin 6 (IL-6) and glutamic acid decarboxylase (GAD) proteins (65 kDa and 67 kDa) together with gamma-aminobutyric acid transaminase (GABA-T) activity and density of Purkinje cell in the cerebellum were assessed. The results showed that laser acupuncture HT7 decreased oxidative stress, IL-6 expression, and GABA-T activity but increased the expressions of GAD 65 kDa together with the density of Purkinje cells in the cerebellum. Therefore, laser acupuncture at HT7 is the potential strategy to improve the cerebellar disorders in VPA-rat model of autism. The mechanism may occur partly via the decrease of oxidative stress status, inflammation, and the improved GABAergic function.
[Mh] Termos MeSH primário: Pontos de Acupuntura
Terapia por Acupuntura/métodos
Transtorno Autístico/terapia
Doenças Cerebelares/tratamento farmacológico
Terapia a Laser/métodos
[Mh] Termos MeSH secundário: Animais
Doenças Cerebelares/metabolismo
Cerebelo/química
Cerebelo/metabolismo
Modelos Animais de Doenças
Interleucina-6/metabolismo
Masculino
Estresse Oxidativo
Ratos
Ácido Valproico/efeitos adversos
Ácido gama-Aminobutírico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Interleukin-6); 56-12-2 (gamma-Aminobutyric Acid); 614OI1Z5WI (Valproic Acid)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170921
[Lr] Data última revisão:
170921
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170912
[St] Status:MEDLINE


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[PMID]:28823707
[Au] Autor:Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
[Ad] Endereço:Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, Fr
[Ti] Título:Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
[So] Source:Am J Hum Genet;101(3):428-440, 2017 Sep 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized by hypoplasia of pons and cerebellum. Mutations in a small number of genes have been reported to cause PCH, and the vast majority of PCH cases are explained by mutations in TSEN54, which encodes a subunit of the tRNA splicing endonuclease complex. Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly. MRI data from available affected subjects revealed PCH, small normally proportioned cerebellum, and corpus callosum anomalies. Furthermore, through in utero electroporation, we show that downregulation of TBC1D23 affects cortical neuron positioning. TBC1D23 is a member of the Tre2-Bub2-Cdc16 (TBC) domain-containing RAB-specific GTPase-activating proteins (TBC/RABGAPs). Members of this protein family negatively regulate RAB proteins and modulate the signaling between RABs and other small GTPases, some of which have a crucial role in the trafficking of intracellular vesicles and are involved in neurological disorders. Here, we demonstrate that dense core vesicles and lysosomal trafficking dynamics are affected in fibroblasts harboring TBC1D23 mutation. We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia.
[Mh] Termos MeSH primário: Doenças Cerebelares/genética
Cerebelo/anormalidades
Proteínas Ativadoras de GTPase/genética
Homozigoto
Microcefalia/genética
Mutação
Malformações do Sistema Nervoso/genética
Neurônios/patologia
[Mh] Termos MeSH secundário: Adolescente
Animais
Células Cultivadas
Doenças Cerebelares/patologia
Cerebelo/patologia
Criança
Pré-Escolar
Deficiências do Desenvolvimento/genética
Deficiências do Desenvolvimento/patologia
Embrião de Mamíferos/metabolismo
Embrião de Mamíferos/patologia
Feminino
Seres Humanos
Deficiência Intelectual/genética
Deficiência Intelectual/patologia
Masculino
Camundongos
Microcefalia/patologia
Malformações do Sistema Nervoso/patologia
Neuroblastoma/genética
Neuroblastoma/patologia
Crescimento Neuronal
Neurônios/metabolismo
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GTPase-Activating Proteins); 0 (Tbc1d23 protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170822
[St] Status:MEDLINE


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[PMID]:28823706
[Au] Autor:Marin-Valencia I; Gerondopoulos A; Zaki MS; Ben-Omran T; Almureikhi M; Demir E; Guemez-Gamboa A; Gregor A; Issa MY; Appelhof B; Roosing S; Musaev D; Rosti B; Wirth S; Stanley V; Baas F; Barr FA; Gleeson JG
[Ad] Endereço:Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
[Ti] Título:Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
[So] Source:Am J Hum Genet;101(3):441-450, 2017 Sep 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Here, we report biallelic TBC1D23 mutations in six individuals from four unrelated families manifesting a non-degenerative form of PCH. In addition to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay, and ataxia. In zebrafish, tbc1d23 morphants replicated the human phenotype showing hindbrain volume loss. TBC1D23 localized at the trans-Golgi and was regulated by the small GTPases Arl1 and Arl8, suggesting a role in trans-Golgi membrane trafficking. Altogether, this study provides a causative link between TBC1D23 mutations and PCH and suggests a less severe clinical course than other PCH subtypes.
[Mh] Termos MeSH primário: Doenças Cerebelares/genética
Proteínas Ativadoras de GTPase/genética
Homozigoto
Microcefalia/genética
Mutação
[Mh] Termos MeSH secundário: Adolescente
Animais
Doenças Cerebelares/patologia
Criança
Pré-Escolar
Feminino
Células HeLa
Seres Humanos
Masculino
Microcefalia/patologia
Linhagem
Fenótipo
Peixe-Zebra/genética
Peixe-Zebra/crescimento & desenvolvimento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GTPase-Activating Proteins); 0 (Tbc1d23 protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170822
[St] Status:MEDLINE


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[PMID]:28818149
[Au] Autor:Hesselbrock RR
[Ti] Título:Cerebellar Infarction Presenting with Acute Vestibular Syndrome in Two U.S. Air Force Pilots.
[So] Source:Aerosp Med Hum Perform;88(9):880-883, 2017 Sep 01.
[Is] ISSN:2375-6314
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. CASE REPORTS: A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset. Brain magnetic resonance imaging showed right inferomedial cerebellar infarction. Echocardiography discovered patent foramen ovale and atrial septal aneurysm. A 40-yr-old man developed severe vertigo, nausea, and vomiting during initial aircraft descent. Head computed tomography scan was performed acutely and was normal. Initial assessment was benign paroxysmal positional vertigo. Brain magnetic resonance imaging 1 mo after symptom onset showed a small right inferior cerebellar infarction. Patent foramen ovale and bilateral atrial enlargement were seen on echocardiography. Both pilots made full neurological recoveries and were eventually returned to flight status. DISCUSSION: Central causes of isolated acute vestibular symptoms are uncommon and are often not considered in otherwise healthy individuals. Cerebellar infarction is one of these uncommon but increasingly recognized causes of acute vestibular symptoms. As evaluation and management of central causes are much different from peripheral conditions, prompt localization confirmation is paramount. Accurate evidence-based bedside screening methods are available for rapid localization. Awareness of the possibility of central etiologies and careful clinical evaluation with application of bedside screening methods in patients with acute vestibular symptoms will reduce the number of inaccurate diagnoses.Hesselbrock RR. Cerebellar infarction presenting with acute vestibular syndrome in two U.S. Air Force pilots. Aerosp Med Hum Perform. 2017; 88(9):880-883.
[Mh] Termos MeSH primário: Doenças Cerebelares/diagnóstico por imagem
Forame Oval Patente/diagnóstico por imagem
Infarto da Artéria Cerebral Média/diagnóstico por imagem
Militares
Pilotos
Doenças Vestibulares/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Doenças Cerebelares/tratamento farmacológico
Diagnóstico Diferencial
Seres Humanos
Infarto da Artéria Cerebral Média/tratamento farmacológico
Imagem por Ressonância Magnética
Masculino
Inibidores da Agregação de Plaquetas/uso terapêutico
Síndrome
Doenças Vestibulares/tratamento farmacológico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Platelet Aggregation Inhibitors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM; S
[Da] Data de entrada para processamento:170819
[St] Status:MEDLINE
[do] DOI:10.3357/AMHP.4897.2017


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[PMID]:28726664
[Au] Autor:Tkemaladze T; Melikishvili G; Kherkheulidze V; Melikishvili A; Davitaia T
[Ad] Endereço:1MediClubGeorgia Medical Center, Department of Pediatrics; 2Tbilisi State Medical University, Department of Molecular and Medical Genetics; 3St Christopher's Hospital for Children, Philadelphia, PA, U.S.A.; 4M. Iashvili Children Central Hospital, Uronephrology Department, Tbilisi, Georgia.
[Ti] Título:EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
[So] Source:Georgian Med News;(267):100-103, 2017 Jun.
[Is] ISSN:1512-0112
[Cp] País de publicação:Georgia (Republic)
[La] Idioma:eng
[Ab] Resumo:Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3). Here we present a case of a 3-year-old boy with compound heterozygous missense mutations in the TMEM67 gene manifesting features of both JBTS and NPHP syndromes, with neonatal onset of end-stage renal disease (ESRD) and associated microcephaly. Such a phenotype has not been reported to date, thus highlighting the diversity of ciliopathies and expanding the phenotype of the TMEM67 gene.
[Mh] Termos MeSH primário: Ciliopatias/genética
Proteínas de Membrana/genética
[Mh] Termos MeSH secundário: Doenças Cerebelares/genética
Pré-Escolar
Seres Humanos
Nefropatias/genética
Doenças Renais Císticas/genética
Falência Renal Crônica/genética
Masculino
Microcefalia/genética
Mutação
Transtornos da Motilidade Ocular/genética
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Proteins); 0 (TMEM67 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170721
[St] Status:MEDLINE


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[PMID]:28687640
[Au] Autor:Fabritius MP; Thierfelder KM; Meinel FG; Othman AE; Dorn F; Sabel BO; Scheffler P; Ertl-Wagner B; Sommer WH; Kunz WG
[Ad] Endereço:From the Institute for Clinical Radiology (M.P.F., K.M.T., F.G.M., B.O.S., B.E.-W., W.H.S., W.G.K.), Department of Neuroradiology (F.D.), and Department of Neurology (P.S.), Ludwig-Maximilians-University Hospital Munich, Germany; and Department for Diagnostic and Interventional Radiology, Eberhard K
[Ti] Título:Early Imaging Prediction of Malignant Cerebellar Edema Development in Acute Ischemic Stroke.
[So] Source:Stroke;48(9):2597-2600, 2017 Sep.
[Is] ISSN:1524-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND PURPOSE: Malignant cerebellar edema (MCE) is a life-threatening complication of acute ischemic stroke that requires timely diagnosis and management. Aim of this study was to identify imaging predictors in initial multiparametric computed tomography (CT), including whole-brain CT perfusion (WB-CTP). METHODS: We consecutively selected all subjects with cerebellar ischemic WB-CTP deficits and follow-up-confirmed cerebellar infarction from an initial cohort of 2635 patients who had undergone multiparametric CT because of suspected stroke. Follow-up imaging was assessed for the presence of MCE, measured using an established 10-point scale, of which scores ≥4 are considered malignant. Posterior circulation-Acute Stroke Prognosis Early CT Score (pc-ASPECTS) was determined to assess ischemic changes on noncontrast CT, CT angiography (CTA), and parametric WB-CTP maps (cerebellar blood flow [CBF]; cerebellar blood volume; mean transit time; time to drain). Fisher's exact tests, Mann-Whitney U tests, and receiver operating characteristics analyses were performed for statistical analyses. RESULTS: Out of a total of 51 patients who matched the inclusion criteria, 42 patients (82.4%) were categorized as MCE- and 9 (17.6%) as MCE+. MCE+ patients had larger CBF, cerebellar blood volume, mean transit time, and time to drain deficit volumes (all with <0.001) and showed significantly lower median pc-ASPECTS assessed using WB-CTP (CBF, cerebellar blood volume, mean transit time, time to drain; all with <0.001) compared with MCE- patients, while median pc-ASPECTS on noncontrast CT and CTA was not significantly different (both >0.05). Receiver operating characteristics analyses yielded the largest area under the curve values for the prediction of MCE development for CBF (0.979) and cerebellar blood volume deficit volumes (0.956) and pc-ASPECTS on CBF (0.935), whereas pc-ASPECTS on noncontrast CT (0.648) and CTA (0.684) had less diagnostic value. The optimal cutoff value for CBF deficit volume was 22 mL, yielding 100% sensitivity and 90% specificity for MCE classification. CONCLUSIONS: WB-CTP provides added diagnostic value for the early identification of patients at risk for MCE development in acute cerebellar stroke.
[Mh] Termos MeSH primário: Edema Encefálico/diagnóstico por imagem
Infarto Encefálico/diagnóstico por imagem
Doenças Cerebelares/diagnóstico por imagem
Cerebelo/irrigação sanguínea
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Edema Encefálico/etiologia
Infarto Encefálico/complicações
Doenças Cerebelares/complicações
Feminino
Seres Humanos
Masculino
Meia-Idade
Imagem de Perfusão
Curva ROC
Acidente Vascular Cerebral/diagnóstico por imagem
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170709
[St] Status:MEDLINE
[do] DOI:10.1161/STROKEAHA.117.018237


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[PMID]:28446490
[Au] Autor:Venkatesh M; Chakkalakkoombil SV; Duraipandi MB; Gulati R
[Ad] Endereço:Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
[Ti] Título:Complicated acute cerebellitis with obstructive hydrocephalus and tonsillar herniation in a child.
[So] Source:BMJ Case Rep;2017, 2017 Apr 26.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Acute cerebellitis (AC) is a rare inflammatory syndrome presenting as cerebellar dysfunction, seen more frequently in children. AC can have a variable course with features of cerebellar dysfunction, raised intracranial pressure and neurological deficits, and can sometimes even be potentially fatal due to complications such as obstructive hydrocephalus and brainstem compression, warranting surgical intervention. We report a case of a 12-year-old boy who presented with raised intracranial pressure and ataxia. Imaging with CT and MRI showed AC with obstructive hydrocephalus and tonsillar herniation. He was managed with medications for raised intracranial pressure and with ventriculoperitoneal shunt, and he recovered completely over a period of 2 weeks. Imaging has an important role in the diagnosis of AC and in differentiating it from acute cerebellar ataxia, which has a more benign course. It is crucial to diagnose and promptly manage the rarely occurring but life-threatening complications of AC.
[Mh] Termos MeSH primário: Doenças Cerebelares/complicações
Encefalocele/diagnóstico por imagem
Hidrocefalia/diagnóstico por imagem
[Mh] Termos MeSH secundário: Criança
Encefalocele/cirurgia
Seres Humanos
Hidrocefalia/cirurgia
Imagem por Ressonância Magnética
Masculino
Tomografia Computadorizada por Raios X
Resultado do Tratamento
Derivação Ventriculoperitoneal
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170428
[St] Status:MEDLINE



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