Results 61 to 70 of about 1,774 (212)

Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]

open access: yes, 2009
Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
core  

Suprathel®‐assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient

open access: yesInternational Wound Journal, Volume 11, Issue 5, Page 472-475, October 2014., 2014
Abstract Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients.
Elif Sari   +4 more
wiley   +1 more source

Esophageal involvement in epidermolysis bullosa dystrophica: Clinical and roentgenographic manifestations [PDF]

open access: yes, 1983
Epidermolysis bullosa is a rare hereditary mechanobullous skin disorder. Four patients with esophageal involvement are reported. These cases and review of reported cases of epidermolysis bullosa dystrophica-recessive (EBD-R) showed distinct clinical and ...
A Bergenholtz   +27 more
core   +1 more source

In Vitro Analysis of Photosensitizer Accumulation for Assessment of Applicability of Fluorescence Diagnosis of Squamous Cell Carcinoma of Epidermolysis Bullosa Patients

open access: yesBioMed Research International, Volume 2013, Issue 1, 2013., 2013
Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by blistering following mechanical trauma. Chronic wounds of EB patients often lead to tumors such as squamous cell carcinoma (SCC). Early diagnosis may prevent its invasive growth—frequently the reason of premature mortality of EB‐patients.
Patrick Larisch   +4 more
wiley   +1 more source

Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy Variabilidade clínica em epidermólise bolhosa distrófica e achados de microscopia eletrônica de varredura

open access: yesAnais Brasileiros de Dermatologia, 2012
In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss.
Hiram Larangeira de Almeida Jr   +4 more
doaj   +1 more source

Anaesthetic management of an infant with epidermolysis bullosa undergoing inguinal hernia repair [PDF]

open access: yes, 2010
Epidermolysis bullosa is a group of inherited disorders characterized by blistering of the skin as a result of minor trauma. We managed an infant with epidermolysis bullosa undergoing inguinal hernia repair.
Khan, Sobia, Siddiqui, Khalid Maudood
core   +1 more source

Epidermólisis bullosa: cuidados de Enfermería [PDF]

open access: yes, 2017
La Epidermólisis Bullosa, aun tratándose de una enfermedad de poca incidencia (enfermedad rara), supone un problema de salud con importantes repercusiones para el paciente y su familia, que deben conocerse y ser tratados adecuadamente por los ...
Asensio Mucientes, Lucía
core  

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

open access: yesAmerican Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard   +17 more
wiley   +1 more source

Una mariposa diferente. Cuidados al niño con epidermólisis bullosa [PDF]

open access: yes, 2016
Trabajo fin de grado en EnfermeríaIntroducción La Epidermólisis Bullosa, comúnmente conocida como la "enfermedad de la piel de mariposa", es una de las miles de enfermedades raras.
Perez Cruz, Sara
core  

Oral rehabilitation with dental implants in patients with recessive dystrophic epidermolysis bullosa : a retrospective study with 2-15 years of follow-up [PDF]

open access: yes, 2020
Epidermolysis bullosa (EB) comprises a group of hereditary disorders characterized by mechanical fragility of the skin and mucous membranes, with the development of blisters and vesicles in response to minimum tissue friction.
Agustín Panadero, Rubén   +4 more
core   +1 more source

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