PubMed Journals Articles About "Allogeneic ABCB5-positive Stem Cells For Treatment Of Epidermolysis Bullosa" RSS

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Showing "Allogeneic ABCB5 positive Stem Cells Treatment Epidermolysis Bullosa" PubMed Articles 1–25 of 52,000+

A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to lack of type VII collagen (C7). At present, treatment is mainly supportive.

ABCB5 is activated by MITF andβ-catenin and is associated with melanoma differentiation.

Defining markers of different phenotypic states in melanoma is important for understanding disease progression, determining the response to therapy, and defining the molecular mechanisms underpinning phenotype-switching driven by the changing intratumor microenvironment. The ABCB5 transporter is implicated in drug-resistance, and has been identified as a marker of melanoma-initiating cells. Indeed ongoing studies are using ABCB5 to define stem cell populations. However, we show here that the ABCB5 is a dire...

Treatment of epidermolysis bullosa pruriginosa-associated pruritus with dupilumab.

Epidermolysis bullosa pruriginosa (EBP; MIM#604129) is a rare clinical subtype of autosomal dominant (or less commonly recessive) dystrophic epidermolysis bullosa (DEB). In addition to usual manifestations of DEB including trauma-induced skin fragility, milia and nail dystrophy, EBP features severe pruritus, prurigo nodularis (PN) and lichen simplex chronicus-like lesions which may resemble other dermatoses and thereby complicate clinical diagnosis. Like other types of DEB, EBP results from heterozygous or ...

The photobiomodulation therapy together with the use of cord blood platelet gel could be safely suggested as primary treatment for oral lesions in patients with inherited epidermolysis bullosa.

Inherited epidermolysis bullosa (EB) consists of different genetically heterogeneous skin and mucosal disorders due to a number of defects in the synthesis of proteins involved in the adhesion of the epithelium to the connective tissues; the oral cavity is commonly involved but there are very few published data about potential treatment..

Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intra-basal epidermal and lamina lucida cleavage planes: a survey of six cases.

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare, autosomal recessive form of epidermolysis bullosa characterized by mucocutaneous fragility, intestinal obstruction, and frequent urologic and renal abnormalities. The clinical course is typically lethal in the first few weeks of life, with an overall mortality of nearly 80%. Mutations in ITGB4, ITGA6, and PLEC1, which encode hemidesmosome components β4 integrin, α6 integrin, and plectin, respectively, are most commonly implicated.

Natural history of growth and anaemia in children with epidermolysis bullosa: A retrospective cohort study.

Impaired growth and anaemia are major extracutaneous complications of epidermolysis bullosa (EB), but data on their development are lacking.

Phase 2 Trial of a Neurokinin-1 Receptor Antagonist for the Treatment of Chronic Itch in Epidermolysis Bullosa Patients: A Randomized Clinical Trial.

Chronic pruritus causes major morbidity in epidermolysis bullosa (EB). The substance P-neurokinin 1 receptor (SP-NK1) pathway is a promising target for treating EB-related pruritus.

Patient Reported Outcomes and Quality of Life in Recessive Dystrophic Epidermolysis Bullosa: A Global Cross-sectional Survey.

A spectrum of skin disease severity exists in patients with recessive dystrophic epidermolysis bullosa (RDEB).

Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.

Inherited epidermolysis bullosa is a skin fragility disorder typified by blister formation following minor trauma. Four major EB types are distinguished based on the level of cleavage within the skin. Among these, epidermolysis bullosa simplex (EBS) is characterized by blister formation within the basal epidermis. EBS is the most heterogeneous EB type with mutations in seven different genes and a spectrum of clinical manifestations, ranging from widespread life-threatening skin and mucosal involvement to mi...

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.

Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated mutations in the COL7A1 gene. Here, we describe a consanguineous Pakistani family with four affected individuals suffering from recessive dystrophic epidermolysis bullosa. Exome sequencing of the proband's DNA revealed a homozygous missense variant (c.8038G>A:p.Gly2680Ser) in COL7A1 which cosegregated with disease in the family. The emergence of this par...

Oral rehabilitation with dental implants in patients with recessive dystrophic epidermolysis bullosa: A retrospective study with 2-15 years of follow-up.

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. Recessive dystrophic epidermolysis bullosa (RDEB) with generalized involvement is the most common subtype in the oral cavity. The present study was carried out to investigate dental implant survival, peri-implant tissue condition, patient satisfaction, and the impact of treatment upon...

The psychological functioning of children with Epidermolysis Bullosa (EB) and its relationship with specific aspects of disease.

Epidermolysis Bullosa (EB) is a group of genetic conditions resulting in skin and mucosal membrane fragility. EB is characterised by chronic wounds and scarring, consequent functional limitations and high levels of pain. In its most severe forms, life expectancy is significantly foreshortened.

Nursing care of a newborn with epidermolysis bullosa: a case report.

To describe a case of epidermolysis bullosa occurring in a children's hospital in the South of Brazil, evidencing the nursing care provided to this newborn diagnosed with this pathology.

Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene.

To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB).

Successful dapsone therapy in inherited Epidermolysis Bullosa.

Epidermolysis bullosa (EB) is a rare inherited blistering disease, with an incidence of 19.6 cases per million live births . The term inherited EB encompasses multiple heterogenous genodermatoses, grouped by a shared fragility of epithelial lined tissues, particularly the skin . The pathophysiology of EB is well understood. However, there is no cure; management is supportive. Protective dressings are used to promote blister healing and avoid secondary infection.

Successful treatment of refractory epidermolysis bullosa acquisita with intravenous immunoglobulin and dapsone.

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The...

Opposing effects of STAT3 targeting in epidermolysis bullosa.

Dystrophic epidermolysis bullosa (DEB) is a skin blistering disease caused by mutations in the COL7A1 gene encoding the anchoring fibril-constituent collagen VII. Secondary to skin fragility, DEB manifests as chronic wounds and progressive soft tissue fibrosis. As a consequence of a chronically injured and stiffened dermal microenvironment people with severe DEB are prone to develop early-onset metastatic cutaneous squamous cell carcinomas (cSCCs). Dermal fibrosis in DEB is paradigmatic of injury- and infla...

Clinical efficacy of biocellulose, carboxymethyl cellulose and normal saline dressing in epidermolysis bullosa.

To evaluate the efficacy of a biocellulose, a carboxymethyl cellulose and a normal saline wound dressing in the wound care management of epidermolysis bullosa (EB) skin wounds.

Amino acid charge and epidermolysis bullosa simplex severity: Genotype-phenotype correlations.

Epidermolysis bullosa simplex (EBS) is a genetic skin disorder characterized by mechanical fragility and blistering of the skin. Localized EBS (EBS-loc: OMIM 131800) is the mildest variant, with blistering occurring only in the hands and feet. EBS is mainly caused by autosomal dominant mutations in the KRT5 or KRT14 gene, encoding keratin 5 (K5) or keratin 14 (K14), respectively. Here, we report a patient with EBS-loc harboring a novel mutation in KRT5, highlighting that changes affecting the charge of amin...

Single and repeated intra-articular injections in the tarsocrural joint with allogeneic and autologous equine bone marrow-derived mesenchymal stem cells are safe, but did not reduce acute inflammation in an experimental interleukin-1β model of synovitis.

Allogeneic and autologous bone marrow-derived mesenchymal stem cells (BMDMSCs) have been administered in equine joints for their anti-inflammatory effects. However, allogeneic BMDMSC offer multiple clinical and practical advantages. Therefore, it is important to determine the relative effectiveness of allogeneic versus autologous BMDMSCs.

'Off-the-shelf' allogeneic CAR T cells: development and challenges.

Autologous chimeric antigen receptor (CAR) T cells have changed the therapeutic landscape in haematological malignancies. Nevertheless, the use of allogeneic CAR T cells from donors has many potential advantages over autologous approaches, such as the immediate availability of cryopreserved batches for patient treatment, possible standardization of the CAR-T cell product, time for multiple cell modifications, redosing or combination of CAR T cells directed against different targets, and decreased cost using...

Direct Costs of Epidermolysis Bullosa by Disease Severity.

Epidermolysis Bullosa Pruriginosa: An Unusual Presentation of a Simplex Variant.

Epidermolysis Bullosa Simplex keratinocytes show disturbed mitochondrial positioning and activity.

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