Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Anna E Martinez"'
Autor:
Rebecca J Calthorpe, Emma Spencer, Jane C Ravenscroft, Ting S Tang, Anna E Martinez, Anjum Deorukhkar
Publikováno v:
Case Reports in Pediatrics, Vol 2019 (2019)
We describe a rare case of a preterm neonate presenting at birth with extensive epidermal skin loss of over 90% due to disseminated herpes simplex virus type one infection. Differential diagnosis included aplasia cutis and epidermolysis bullosa. Seru
Externí odkaz:
https://doaj.org/article/a9ece88f68064038acb137952f6d682a
Autor:
Eunice Jeffs, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Jemima E. Mellerio
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Pain is common in the genetic skin fragility disorder epidermolysis bullosa (EB), from skin and mucosal injury and inflammation as well as extra-mucocutaneous sites. Individuals living with EB have identified pain as a priority fo
Externí odkaz:
https://doaj.org/article/27e4f7b2ca81471cbd3bb1f4d45ccf26
Publikováno v:
JEADV Clinical Practice, Vol 3, Iss 2, Pp 611-615 (2024)
Abstract Background Epidermolysis bullosa (EB) is an inherited genodermatosis of variable severity characterised by skin and mucosal fragility commonly associated with altered gait patterns and hypermobility. Objectives To define the altered gait pat
Externí odkaz:
https://doaj.org/article/02899f2c01a84bcaad8bbdd7d6004800
Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study
Autor:
Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Eunice Jeffs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. Objectives As part of a prospective register study of the natural hist
Externí odkaz:
https://doaj.org/article/fffd1c42edb4449fa70ef4bb51e829bf
Autor:
Jemima E. Mellerio, MD, Dimitra Kiritsi, MD, PhD, M. Peter Marinkovich, MD, Natividad Romero Haro, RN, Kellie Badger, RN, Meena Arora, MSc, Marc A. Dziasko, PhD, Mansi Vithlani, PhD, Anna E. Martinez
Publikováno v:
JAAD International, Vol 11, Iss , Pp 224-232 (2023)
Background: The pathophysiological processes underlying the phenotypic spectrum of severe forms of epidermolysis bullosa (EB) are complex and poorly understood. Objective: To use burden mapping to explore relationships between primary pathomechanisms
Externí odkaz:
https://doaj.org/article/e4ae6b17e7704c7d9028491aded80452
Autor:
Johannes S. Kern, Agnes Schwieger-Briel, Sandra Löwe, Mark Sumeray, Charles Davis, Anna E. Martinez
Publikováno v:
Trials, Vol 20, Iss 1, Pp 1-13 (2019)
Abstract Background Epidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin. Patients experience recurrent skin wounding, with severity depending on type, sub-type, and mu
Externí odkaz:
https://doaj.org/article/0894a20d77354660a1bb529875b9ae8d
Publikováno v:
Clinical and Experimental Dermatology. 48:188-192
BackgroundChildren and adolescents with severe recessive dystrophic epidermolysis bullosa (RDEB-S) often have severe constipation in addition to gastrointestinal dysbiosis, due to frequent antibiotic use and reduced oral diet. Constipation is treated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::402050eab7f43d14e65272000dd18314
https://doi.org/10.1093/ced/llac070
https://doi.org/10.1093/ced/llac070
Autor:
Gabriela Petrof, Anna E Martinez
Publikováno v:
British Journal of Dermatology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d46f9593dd9d0ebf1d4db19ae3f465d8
https://doi.org/10.1093/bjd/ljad123
https://doi.org/10.1093/bjd/ljad123
Publikováno v:
Clinical and Experimental Dermatology. 47:1307-1313
Paediatric patients with recessive dystrophic epidermolysis bullosa (RDEB) are at risk of vitamin D deficiency, owing to lack of sunlight from reduced mobility and having large areas of skin being covered with dressings, and to impaired nutritional i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266045a885d56e959bd58f85d5f48c24
https://doi.org/10.1111/ced.15156
https://doi.org/10.1111/ced.15156
Autor:
Anna E. Martinez, Lu Liu, D T Greenblatt, Gabriela Petrof, S J Robertson, Jemima E. Mellerio, C Prodinger, C Skilbeck
Publikováno v:
Clinical and Experimental Dermatology. 47:717-723
Summary Background The rare inversa subtype of recessive dystrophic epidermolysis bullosa (RDEB-I) is characterized by predominant intertriginous skin blistering and marked mucosal involvement. Specific recessive missense mutations in the collagen VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7bce28ed27a8c10cb63b9ce0638e72
https://doi.org/10.1111/ced.15029
https://doi.org/10.1111/ced.15029