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  1. Article: Erectile dysfunction and reduced libido in a myasthenia gravis patient treated with methotrexate.

    Papadopoulos, Constantinos / Papadimas, George Konstantinos

    Clinical case reports

    2021  Volume 9, Issue 6, Page(s) e04245

    Abstract: Patients with myasthenia gravis treated with methotrexate are usually young and sexually active. Therefore, sexual dysfunction associated with MTX treatment should be considered and specifically searched in them as it can be an under-recognized cause of ... ...

    Abstract Patients with myasthenia gravis treated with methotrexate are usually young and sexually active. Therefore, sexual dysfunction associated with MTX treatment should be considered and specifically searched in them as it can be an under-recognized cause of treatment failure or poor compliance.
    Language English
    Publishing date 2021-06-23
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.4245
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine.

    Papadopoulos, Constantinos / Zouvelou, Vasiliki / Papadimas, George Konstantinos

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2019  Volume 38, Issue 1, Page(s) 25–28

    Abstract: Early joint contractures in childhood or adolescence irrespective of muscle weakness are usually found in Emery-Dreifuss muscular dystrophy and collagen-VI related diseases and only rarely in the early stages of other progressive muscular dystrophies. We ...

    Abstract Early joint contractures in childhood or adolescence irrespective of muscle weakness are usually found in Emery-Dreifuss muscular dystrophy and collagen-VI related diseases and only rarely in the early stages of other progressive muscular dystrophies. We report a patient presenting severe elbow contractures and a rigid-spine since his early childhood without any evident muscle weakness, who was diagnosed with facioscapulohumeral muscular dystrophy later in life. This case is interesting since there has been no report, to date, of patients with a phenotype resembling facioscapulohumeral muscular dystrophy also in association with early and prominent elbow contractures and spinal rigidity, since childhood, resembling Emery-Dreifuss muscular dystrophy. Our case further confirmed the phenotypic variability often observed in carriers of
    MeSH term(s) Adult ; Biopsy ; Contracture/etiology ; Diagnosis, Differential ; Elbow Joint ; Humans ; Male ; Muscular Dystrophy, Facioscapulohumeral/complications ; Muscular Dystrophy, Facioscapulohumeral/diagnosis ; Phenotype ; Spinal Diseases/etiology
    Language English
    Publishing date 2019-03-01
    Publishing country Italy
    Document type Case Reports
    ZDB-ID 2102328-1
    ISSN 2532-1900 ; 1128-2460
    ISSN (online) 2532-1900
    ISSN 1128-2460
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6694: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Update on Congenital Myopathies in Adulthood.

    Papadimas, George Konstantinos / Xirou, Sophia / Kararizou, Evangelia / Papadopoulos, Constantinos

    International journal of molecular sciences

    2020  Volume 21, Issue 10

    Abstract: Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ... ...

    Abstract Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.
    MeSH term(s) Adult ; Female ; Humans ; Late Onset Disorders ; Male ; Myopathies, Structural, Congenital/classification ; Myopathies, Structural, Congenital/etiology ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/physiopathology
    Language English
    Publishing date 2020-05-24
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms21103694
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not?

    Papadopoulos, Constantinos / Malfatti, Edoardo / Anagnostou, Evangelos / Savarese, Marco / Udd, Bjarne / Papadimas, George Konstantinos

    Muscle & nerve

    2019  Volume 60, Issue 6, Page(s) E43–E45

    MeSH term(s) Electromyography ; Humans ; Male ; Meige Syndrome/complications ; Meige Syndrome/genetics ; Middle Aged ; Muscular Diseases/complications ; Muscular Diseases/genetics ; Valosin Containing Protein/genetics
    Chemical Substances Valosin Containing Protein (EC 3.6.4.6)
    Language English
    Publishing date 2019-10-23
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.26704
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1449: 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)
    Zs.MO 551: Show issues

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  5. Article ; Online: Phenotypic variability and molecular genetics in proximal myotonic myopathy.

    Papadimas, George Konstantinos / Kekou, Kiriaki / Papadopoulos, Constantinos / Kararizou, Evangelia / Kanavakis, Emmanuel / Manta, Panagiota

    Muscle & nerve

    2015  Volume 51, Issue 5, Page(s) 686–691

    Abstract: Introduction: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.: Methods: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.: ... ...

    Abstract Introduction: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.
    Methods: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.
    Results: The age at diagnosis ranged from 38 to 69 years. The initial symptoms were proximal weakness, myalgias, and myotonia. Clinical myotonia was elicited in 10 patients, whereas electromyographic myotonic discharges were observed in almost all patients. Subcapsular cataract was frequently present, but cardiac arrhythmias were rare.
    Conclusions: In this study of Greek DM2 patients, proximal weakness was the most common initial symptom. Myalgias were also reported in a few patients, yet myotonia was not a major complaint. Although DM2 is considered relatively benign, there are patients who may be affected severely. Thus, a high index of suspicion must be maintained to make a timely diagnosis, especially in those of reproductive age.
    MeSH term(s) Adult ; Aged ; Electromyography ; Female ; Greece ; Humans ; Incidence ; Male ; Middle Aged ; Muscle Weakness/epidemiology ; Muscle Weakness/etiology ; Myalgia/epidemiology ; Myalgia/etiology ; Myotonia/epidemiology ; Myotonia/etiology ; Myotonic Dystrophy/complications ; Myotonic Dystrophy/ethnology ; Myotonic Dystrophy/genetics ; Phenotype ; RNA-Binding Proteins/genetics ; Retrospective Studies
    Chemical Substances CNBP protein, human ; RNA-Binding Proteins
    Language English
    Publishing date 2015-05
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.24440
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1449: 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)
    Zs.MO 551: Show issues

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  6. Article ; Online: Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

    Kekou, Kyriaki / Svingou, Maria / Sofocleous, Christalena / Mourtzi, Niki / Nitsa, Evangelia / Konstantinidis, George / Youroukos, Sotiris / Skiadas, Konstantinos / Katsalouli, Marina / Pons, Roser / Papavasiliou, Antigoni / Kotsalis, Charalabos / Pavlou, Evangelos / Evangeliou, Athanasios / Katsarou, Efstathia / Voudris, Konstantinos / Dinopoulos, Argirios / Vorgia, Pelagia / Niotakis, George /
    Diamantopoulos, Nikolaos / Nakou, Iliada / Koute, Vasiliki / Vartzelis, George / Papadimas, George-Konstantinos / Papadopoulos, Constantinos / Tsivgoulis, Georgios / Traeger-Synodinos, Joanne

    Journal of neuromuscular diseases

    2020  Volume 7, Issue 3, Page(s) 247–256

    Abstract: Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these ... ...

    Abstract Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients.
    Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations.
    Methods: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset.
    Results: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6).
    Conclusions: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Genetic Association Studies ; Greece ; Humans ; Incidence ; Infant ; Male ; Middle Aged ; Muscular Atrophy, Spinal/epidemiology ; Muscular Atrophy, Spinal/genetics ; Prevalence ; Retrospective Studies ; Young Adult
    Language English
    Publishing date 2020-05-11
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2214-3602
    ISSN (online) 2214-3602
    DOI 10.3233/JND-190466
    Database MEDical Literature Analysis and Retrieval System OnLINE

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