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  1. Article ; Online: Clinical and molecular studies in two patients with dystrophic epidermolysis bullosa.

    Ramesh, Asha / Hongal, Amrita / Srinivasa, Manoj / Desai, Sheetal / Mala, R / Jayashankar, Charitha K / Abhigna, Rai / Jyothi, Vishwanth / Asha, Kubba / Meenakshi, Batrani / Ravi, Hiremagalore / Gurudatta, Baraka Vishwanthan

    Indian journal of dermatology, venereology and leprology

    2023  Volume 89, Issue 6, Page(s) 880–883

    MeSH term(s) Humans ; Epidermolysis Bullosa Dystrophica ; Skin ; Epidermolysis Bullosa
    Language English
    Publishing date 2023-04-18
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 416068-x
    ISSN 0973-3922 ; 0019-5162 ; 0378-6323
    ISSN (online) 0973-3922
    ISSN 0019-5162 ; 0378-6323
    DOI 10.25259/IJDVL_225_2022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 85: 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)
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  2. Article ; Online: Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

    Vishwanathan, Gurudatta Baraka / Srinivasa, Manoj / Batrani, Meenakshi / Kubba, Asha / Ghosh, Suparna / Gupta, Divya / Jayashankar, Charitha / Rai, Abhigna / Jangond, Ajith / Inamadar, Arun / Hiremagalore, Ravi

    American journal of medical genetics. Part A

    2022  Volume 188, Issue 8, Page(s) 2454–2459

    Abstract: Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical ... ...

    Abstract Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. All except the one with PA presented with early onset blistering along with laryngeal involvement in the form of hoarseness of voice and nail involvement. Patient with PA presented with aplasia cutis and died in the first week. Two patients had predominantly respiratory and gastrointestinal involvement with varying severity while two had features of myasthenic syndrome but no limb-girdle involvement and one patient phenocopied laryngo-onycho-cutaneous (LOC) syndrome. Using whole-exome sequencing, we identified novel mutations in PLEC. Histopathological analysis (Immunofluorescence antigen mapping) showed absence of staining to plectin antibodies. Our observations propose to append a phenotype of EBS, hoarseness of voice and nail dystrophy or LOC-like phenotype with plectin mutations. Long-term follow up is necessary to monitor for the development of muscular dystrophy.
    MeSH term(s) Epidermolysis Bullosa Simplex/complications ; Epidermolysis Bullosa Simplex/diagnosis ; Epidermolysis Bullosa Simplex/genetics ; Gastric Outlet Obstruction ; Hoarseness/complications ; Humans ; Muscular Dystrophies/genetics ; Mutation ; Plectin/genetics ; Pylorus/abnormalities
    Chemical Substances PLEC protein, human ; Plectin
    Language English
    Publishing date 2022-05-17
    Publishing country United States
    Document type Case Reports ; Research Support, Non-U.S. Gov't
    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.62781
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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