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  1. Article ; Online: External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1.

    Igreja, Liliana / Ribeiro, Luís / Cardoso, Márcio / Vasconcelos, Cristiana / Santos, Ernestina

    The neurologist

    2023  Volume 28, Issue 1, Page(s) 54–56

    Abstract: Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant condition which phenotype can be extremely variable considering its multisystem involvement, including the central nervous system. Neuromuscular findings are facial and distal ... ...

    Abstract Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant condition which phenotype can be extremely variable considering its multisystem involvement, including the central nervous system. Neuromuscular findings are facial and distal extremities muscle weakness, muscle atrophy and myotonia. Standard diagnosis is obtained with molecular testing to detect CTG expansions in the myotonic dystrophy protein of the kinase gene. Brain magnetic resonance imaging typically shows characteristic subcortical white matter (WM) abnormalities located within anterior temporal lobes.
    Case report: We present a 39-year-old male patient with a progressive external ophthalmoplegia, facial and limb muscle weakness, percussion myotonia and atypical brain magnetic resonance imaging findings, showing confluent brainstem WM lesions, affecting the pons, a rare radiologic feature in this disorder. Genetic testing confirmed the diagnosis for DM1.
    Conclusion: This presentation with external ophthalmoplegia and brainstem WM loss in DM1 can show an important correlation with clinical findings and have an important diagnostic and prognostic value.
    MeSH term(s) Male ; Humans ; Myotonic Dystrophy/complications ; Myotonic Dystrophy/diagnostic imaging ; White Matter/pathology ; Brain/pathology ; Magnetic Resonance Imaging ; Muscle Weakness ; Ophthalmoplegia/diagnostic imaging ; Ophthalmoplegia/etiology ; Brain Stem/diagnostic imaging ; Brain Stem/pathology
    Language English
    Publishing date 2023-01-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1361380-7
    ISSN 2331-2637 ; 1074-7931
    ISSN (online) 2331-2637
    ISSN 1074-7931
    DOI 10.1097/NRL.0000000000000438
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4641: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Intermittent and Isolated Unilateral Ptosis Due to Neurovascular Conflict.

    Igreja, Liliana / Ramos, Cristina / Santos, Ernestina

    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

    2022  Volume 43, Issue 4, Page(s) e302–e303

    MeSH term(s) Humans ; Blepharoptosis/diagnosis ; Blepharoptosis/etiology
    Language English
    Publishing date 2022-02-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1189901-3
    ISSN 1536-5166 ; 1070-8022
    ISSN (online) 1536-5166
    ISSN 1070-8022
    DOI 10.1097/WNO.0000000000001490
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1670: Show issues Location:
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  3. Article ; Online: Pseudo-eye-of-the-tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

    Abreu, Vasco Sousa / Silva, José Sá / Igreja, Liliana / Malaquias, Maria João / Pinto, Catarina Mendes

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 1, Page(s) 103–106

    Abstract: The well-known eye-of-the-tiger sign features bilateral and symmetrical changes in the globus pallidus, with a central area of high signal and peripheral low signal on T2-weighted MRI. Although formally considered pathognomonic of pantothenate kinase- ... ...

    Abstract The well-known eye-of-the-tiger sign features bilateral and symmetrical changes in the globus pallidus, with a central area of high signal and peripheral low signal on T2-weighted MRI. Although formally considered pathognomonic of pantothenate kinase-associated neurodegeneration (PKAN), there are other neurodegenerative or genetic diseases showing similar findings. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset ataxia, that was recently associated with biallelic AAGGG repeat expansion in the RFC1 gene. Although its predominant MRI finding is cerebellar atrophy, there may be other less common associated findings. Our aim is to present two cases of CANVAS with associated (pseudo-)eye-of-the-tiger sign, highlighting the possibility of yet another differential diagnosis for this imaging sign.
    MeSH term(s) Humans ; Cerebellar Ataxia/diagnosis ; Cerebellar Ataxia/genetics ; Bilateral Vestibulopathy/diagnosis ; Bilateral Vestibulopathy/genetics ; Ataxia ; Syndrome ; Vestibular Diseases ; Magnetic Resonance Imaging/methods
    Language English
    Publishing date 2023-09-25
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63419
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.

    Igreja, Liliana / Menezes, Catarina / Pinto, Pedro S / Freixo, João Parente / Chorão, Rui

    Pediatric neurology

    2023  Volume 149, Page(s) 137–140

    Abstract: Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report ... ...

    Abstract Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report on a case of LCH whose clinical and neuroradiological features led to the identification of a homozygous pathogenic variant in RELN gene that has not been previously reported in the scientific literature.
    MeSH term(s) Humans ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/genetics ; Lissencephaly/diagnostic imaging ; Lissencephaly/genetics ; Homozygote ; Mutation/genetics
    Language English
    Publishing date 2023-09-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2023.09.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2260: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  5. Article ; Online: Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.

    Malaquias, Maria João / Igreja, Liliana / Nogueira, Célia / Pereira, Cristina / Vilarinho, Laura / Quelhas, Dulce / Freixo, João Parente / Oliveira, Jorge / Magalhães, Marina

    Parkinsonism & related disorders

    2023  Volume 111, Page(s) 105408

    Abstract: Introduction: The diagnostic approach for adulthood parkinsonism can be challenging when atypical features hamper its classification in one of the two main parkinsonian groups: Parkinson's disease or atypical parkinsonian syndromes (APS). Atypical ... ...

    Abstract Introduction: The diagnostic approach for adulthood parkinsonism can be challenging when atypical features hamper its classification in one of the two main parkinsonian groups: Parkinson's disease or atypical parkinsonian syndromes (APS). Atypical features are usually associated with non-sporadic neurodegenerative causes.
    Methods: Retrospective analysis of patients with a working clinical diagnosis of "atypical" APS and complex parkinsonism. "Atypical" APS were classified according to the diagnostic research criteria and the "4-step diagnostic approach" (Stamelou et al. 2013). When not indicated, the final aetiological diagnosis was prospectively assessed. Brain MRI of progressive supranuclear palsy (PSP) look-alikes was reviewed by a neuroradiologist.
    Results: Among 18 patients enrolled, ten were assigned to the "atypical" APS and eight to the complex parkinsonism group. In the "atypical" APS group, nine patients had PSP and one had corticobasal degeneration. In the PSP group the median magnetic resonance parkinsonism index was 17.1. A final aetiological diagnosis was established for 11 patients, four from the complex parkinsonism (L-2-hidroxiglutaric aciduria and DiGeorge syndrome) and seven from the "atypical" APS (Perry syndrome, postencephalitic PSP, vascular PSP, and MTP-AT6 mitochondrial disease) group.
    Conclusions: In this study, the identification of atypical APS features, as proposed in the "4-step diagnostic approach", successfully guided the investigation of alternative diagnoses. Distinctive non-neurodegenerative etiologies causing "atypical" atypical and complex parkinsonism were uncovered, including acquired (post-encephalitis and vascular) and genetic (MTP-AT6 mitochondrial disease mimicking PSP, described for the first time) ones. In the future, accurate clinical identification and distinction between neurodegenerative and non-neurodegenerative parkinsonism etiologies will allow for refining clinical trials.
    MeSH term(s) Humans ; Adult ; Retrospective Studies ; Parkinsonian Disorders/diagnostic imaging ; Parkinsonian Disorders/genetics ; Parkinson Disease/diagnosis ; Supranuclear Palsy, Progressive/diagnostic imaging ; Supranuclear Palsy, Progressive/genetics ; Depression ; Diagnosis, Differential
    Language English
    Publishing date 2023-04-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2023.105408
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4553: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 420: Show issues

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  6. Article ; Online: Proceedings of the 14th International Newborn Brain Conference: Neuro-imaging studies.

    Herrera, Sofia / Cabacungan, Erwin / Cohen, Susan / Thyagarajan, Balamurugan / Jefferies, Kimberley / Avanaki, Kamran / Manwar, Rayyan / McGuire, Laura / Islam, Tarikul / Shoo, Anthony / Charbel, Fady T / Pillers, De-Ann M / Verschuur, Anouk / van Steenis, Andrea / Boswinkel, Vivian / Nijholt, Ingrid / Boomsma, Martijn / Steggerda, Sylke / Meijler, Gerda /
    Leijser, Lara / Park, Seul Gi / Yang, Hyo Ju / Lim, Soo Yeon / Kim, Seh Hyun / Shin, Seoung Han / Kim, Ee-Kyung / Kim, Han-Suk / Shiraki, Anna / Kidokoro, Hiroyuki / Watanabe, Hama / Taga, Gentaro / Narita, Hajime / Mitsumatsu, Takamasa / Kumai, Sumire / Suzui, Ryosuke / Sawamura, Fumi / Ito, Yuji / Yamamoto, Hiroyuki / Nakata, Tomohiko / Sato, Yoshiaki / Hayakawa, Masahiro / Natsume, Jun / Buchmayer, Julia / Kasprian, Gregor / Giordano, Vito / Jernej, Raphaela / Klebermass-Schrehof, Katrin / Berger, Angelika / Goeral, Katharia / Garvey, Aisling / El-Shibiny, Hoda / Yang, Edward / Inder, Terrie / El-Dib, Mohamed / Grant, Ellen / Manning, Simon / Volpe, Joseph / Roychaudhuri, Sriya / Pineda, Roberta / Sharon, Danielle / Singh, Elizabeth / Steele, Tina / Sheldon, Yvonne / Cuddyer, Deborah / Erdei, Carmina / Szakmar, Eniko / Andorka, Csilla / Barta, Hajnalka / Sesztak, Timea / Varga, Edit / Szabo, Miklos / Jermendy, Agnes / Panzarini, Ilaria / King, Regan / Verschuur, Anouk S / Hendson, Leonora / Carlson, Helen / Scotland, Jeanne / Zein, Hussein / Mohammed, Khorshid / Bach, Ashley / Lambing, Hannah / Rogers, Elizabeth E / Xu, Duan / James, Barkovich A / Ferriero, Donna M / Glass, Hannah C / Gano, Dawn / Igreja, Liliana / Ferreira, Adriana / Gomes, Rita / Sousa, Bebiana / Novo, Ana / Alves, José Eduardo / Proença, Elisa / Carvalho, Carmen

    Journal of neonatal-perinatal medicine

    2023  Volume 16, Issue s1, Page(s) S75–S101

    Language English
    Publishing date 2023-08-21
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2435387-5
    ISSN 1878-4429 ; 1934-5798
    ISSN (online) 1878-4429
    ISSN 1934-5798
    DOI 10.3233/NPM-239005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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