Spelling suggestions: "subject:"thermolysis bullosa"" "subject:"epidermoid bullosa""
1 |
The psychological impact of skin disorders on children and their familiesTitman, Penelope Susan January 2001 (has links)
No description available.
|
2 |
Gene studies in epidermolysis bullosaKemp, Matthew W, St. George Clinical School, UNSW January 2005 (has links)
Epidermolysis bullosa (EB) is a group of inherited blistering diseases that share the common feature of blister formation subsequent to normal mechanical insult of the epidermis. Despite two decades of investigation at both epidemiological and genetic levels, there remains much yet to be uncovered about the pathophysiology of this disease. This research had dual aims. Firstly, by enrolling patients in Australia and New Zealand with the simplex type of EB (EBS) in a screening programme in conjunction with a highly detailed review of the EB and intermediate filament literatures, we hoped to gain a better understanding of the correlation between genotype and phenotype in EBS. Secondly, we attempted to evaluate the use of baculoviral vectors as a means of introducing the type VII collagen cDNA into human dermal fibroblasts and primary human epidermal keratinocytes. Among the EBS patients screened we identified a novel multi residue deletion in keratin 5 which led to a surprisingly mild form of epidermolysis bullosa Dowling ??? Meara. The quantitative polymerase chain reaction analysis of epidermal tissue from the affected individual showed that the mutant transcript was present at levels 2.7 fold higher than the wild type transcript. We demonstrated a family in which the presence of a previously reported keratin 14 mutation A413T appeared to induce disease expression in only one of the three individuals found to carry the mutations. We also identified two EBS families with no mutations in either keratin 5 or keratin 14. This is the first study to analyse EB patients from New Zealand and the first to report the presence of a deletion mutation in the 2B domain of keratin 5. The results of our type VII collagen transfer work showed that baculoviruses can be engineered to contain insert sequences in excess of 10kb and are able to gain entry to both human dermal fibroblasts and primary human epidermal keratinocytes. Electron microscopy and analyses of the baculoviral vectors showed that the lack of protein expression subsequent to infection of human dermal fibroblasts and primary human epidermal keratinocytes is likely due to the inability of the vector to escape cytoplasmic endosomes.
|
3 |
Gene studies in epidermolysis bullosaKemp, Matthew W, St. George Clinical School, UNSW January 2005 (has links)
Epidermolysis bullosa (EB) is a group of inherited blistering diseases that share the common feature of blister formation subsequent to normal mechanical insult of the epidermis. Despite two decades of investigation at both epidemiological and genetic levels, there remains much yet to be uncovered about the pathophysiology of this disease. This research had dual aims. Firstly, by enrolling patients in Australia and New Zealand with the simplex type of EB (EBS) in a screening programme in conjunction with a highly detailed review of the EB and intermediate filament literatures, we hoped to gain a better understanding of the correlation between genotype and phenotype in EBS. Secondly, we attempted to evaluate the use of baculoviral vectors as a means of introducing the type VII collagen cDNA into human dermal fibroblasts and primary human epidermal keratinocytes. Among the EBS patients screened we identified a novel multi residue deletion in keratin 5 which led to a surprisingly mild form of epidermolysis bullosa Dowling ??? Meara. The quantitative polymerase chain reaction analysis of epidermal tissue from the affected individual showed that the mutant transcript was present at levels 2.7 fold higher than the wild type transcript. We demonstrated a family in which the presence of a previously reported keratin 14 mutation A413T appeared to induce disease expression in only one of the three individuals found to carry the mutations. We also identified two EBS families with no mutations in either keratin 5 or keratin 14. This is the first study to analyse EB patients from New Zealand and the first to report the presence of a deletion mutation in the 2B domain of keratin 5. The results of our type VII collagen transfer work showed that baculoviruses can be engineered to contain insert sequences in excess of 10kb and are able to gain entry to both human dermal fibroblasts and primary human epidermal keratinocytes. Electron microscopy and analyses of the baculoviral vectors showed that the lack of protein expression subsequent to infection of human dermal fibroblasts and primary human epidermal keratinocytes is likely due to the inability of the vector to escape cytoplasmic endosomes.
|
4 |
Gene studies in epidermolysis bullosaKemp, Matthew W, St. George Clinical School, UNSW January 2005 (has links)
Epidermolysis bullosa (EB) is a group of inherited blistering diseases that share the common feature of blister formation subsequent to normal mechanical insult of the epidermis. Despite two decades of investigation at both epidemiological and genetic levels, there remains much yet to be uncovered about the pathophysiology of this disease. This research had dual aims. Firstly, by enrolling patients in Australia and New Zealand with the simplex type of EB (EBS) in a screening programme in conjunction with a highly detailed review of the EB and intermediate filament literatures, we hoped to gain a better understanding of the correlation between genotype and phenotype in EBS. Secondly, we attempted to evaluate the use of baculoviral vectors as a means of introducing the type VII collagen cDNA into human dermal fibroblasts and primary human epidermal keratinocytes. Among the EBS patients screened we identified a novel multi residue deletion in keratin 5 which led to a surprisingly mild form of epidermolysis bullosa Dowling ??? Meara. The quantitative polymerase chain reaction analysis of epidermal tissue from the affected individual showed that the mutant transcript was present at levels 2.7 fold higher than the wild type transcript. We demonstrated a family in which the presence of a previously reported keratin 14 mutation A413T appeared to induce disease expression in only one of the three individuals found to carry the mutations. We also identified two EBS families with no mutations in either keratin 5 or keratin 14. This is the first study to analyse EB patients from New Zealand and the first to report the presence of a deletion mutation in the 2B domain of keratin 5. The results of our type VII collagen transfer work showed that baculoviruses can be engineered to contain insert sequences in excess of 10kb and are able to gain entry to both human dermal fibroblasts and primary human epidermal keratinocytes. Electron microscopy and analyses of the baculoviral vectors showed that the lack of protein expression subsequent to infection of human dermal fibroblasts and primary human epidermal keratinocytes is likely due to the inability of the vector to escape cytoplasmic endosomes.
|
5 |
Ultrastructural diagnosis of epidermolysis bullosa /Jaunzems, Alvis E. Unknown Date (has links)
Thesis (MAppSc) -- University of South Australia, 1993
|
6 |
Gene studies in epidermolysis bullosaKemp, Matthew W, St. George Clinical School, UNSW January 2005 (has links)
Epidermolysis bullosa (EB) is a group of inherited blistering diseases that share the common feature of blister formation subsequent to normal mechanical insult of the epidermis. Despite two decades of investigation at both epidemiological and genetic levels, there remains much yet to be uncovered about the pathophysiology of this disease. This research had dual aims. Firstly, by enrolling patients in Australia and New Zealand with the simplex type of EB (EBS) in a screening programme in conjunction with a highly detailed review of the EB and intermediate filament literatures, we hoped to gain a better understanding of the correlation between genotype and phenotype in EBS. Secondly, we attempted to evaluate the use of baculoviral vectors as a means of introducing the type VII collagen cDNA into human dermal fibroblasts and primary human epidermal keratinocytes. Among the EBS patients screened we identified a novel multi residue deletion in keratin 5 which led to a surprisingly mild form of epidermolysis bullosa Dowling ??? Meara. The quantitative polymerase chain reaction analysis of epidermal tissue from the affected individual showed that the mutant transcript was present at levels 2.7 fold higher than the wild type transcript. We demonstrated a family in which the presence of a previously reported keratin 14 mutation A413T appeared to induce disease expression in only one of the three individuals found to carry the mutations. We also identified two EBS families with no mutations in either keratin 5 or keratin 14. This is the first study to analyse EB patients from New Zealand and the first to report the presence of a deletion mutation in the 2B domain of keratin 5. The results of our type VII collagen transfer work showed that baculoviruses can be engineered to contain insert sequences in excess of 10kb and are able to gain entry to both human dermal fibroblasts and primary human epidermal keratinocytes. Electron microscopy and analyses of the baculoviral vectors showed that the lack of protein expression subsequent to infection of human dermal fibroblasts and primary human epidermal keratinocytes is likely due to the inability of the vector to escape cytoplasmic endosomes.
|
7 |
Zur Frage der Vernarbung bei Epidermolysis bullosa dystrophica : eine vergleichende histologische und immunhistochemische Untersuchung /Schlüter, Ulrich. January 2004 (has links)
Zugl.: Marburg, Universiẗat, Diss., 2004.
|
8 |
Evaluierung einer pränatalen Gentherapiestrategie für die Behandlung des Morbus Herlitz /Neuner, Andrea. Unknown Date (has links)
Erlangen, Nürnberg, Universiẗat, Diss., 2007. / Enth. 1 Sonderabdr. aus: Gene therapy ; 13. 2006. - Beitr. teilw. dt., teilw. engl.
|
9 |
An analysis of the pathogenesis of Epidermolysis Bullosa and the future for curative treatmentsMagesh, Rayna 01 March 2024 (has links)
Epidermolysis Bullosa (EB) is a rare genetic disorder that causes extreme skin fragility and blistering in patients, significantly impacting their quality of life. EB can be classified into various subtypes, each with a unique genetic profile and diverse physical symptoms. Due to the heterogeneous inheritance patterns of EB, a cure remains yet to be found. However, various symptomatic treatments have been developed and continue to be developed to relieve pain and itching for patients and improve their quality of life. These treatments can be divided into topical treatments, some of which have undergone clinical trials, and systemic treatments, which target the upregulation of inflammatory pathways. Potential curative treatments in development for EB include gene replacement therapy, gene editing therapy, RNA-based therapy, revertant mosaicism, cell-based therapy, protein therapy, and protein codon read-through. Recent advancements in gene therapy and stem cell therapy show promise for a cure for EB in the future. Stem cell therapies utilizing umbilical cord blood-derived mesenchymal stem cells or dermal mesenchymal stromal cells, among others, have shown potential in clinical trials, but further research is required before they can be implemented in a clinical setting. On the other hand, B-VEC, a topical gene therapy, and EB-101, an autologous ex-vivo gene therapy, have undergone more extensive research and are awaiting FDA approval. The ongoing research and development of these therapeutic modalities provide hope that a cure will soon be found for this devastating disease.
|
10 |
The Efficacy of Trimethoprim in Wound Healing of Patients with Epidermolysis Bullosa: A Randomized, Double Blinded, Placebo Controlled, Cross-over, Pilot StudyLara-Corrales, Irene 22 September 2009 (has links)
Hypothesis: Trimethoprim promotes wound healing, decreases lesion counts and improves quality of life of recessive dystrophic epidermolysis bullosa (RDEB) patients.
Objectives: Assess feasibility of conducting a large randomized clinical trial. Determine efficacy of trimethoprim in healing of chronic wounds, decreasing lesion counts and improving quality of life of RDEB patients.
Methods: Prospective, randomized, double-blinded, placebo-controlled, cross-over pilot study.
Results: Ten patients enrolled in the trial, 7 completed both study periods. Despite showing that all patients improved on trimethoprim and that there was a 41% difference in affected area percent change favoring trimethoprim, the cross-over analysis did not show a significant difference between the drug and placebo (p=0.08). Secondary outcome measures did not achieve statistical significance.
Limitations: Small sample size, large variation in wound size and unaccounted confounders.
Conclusions: Although patients experienced improvement while on trimethoprim, no statistical significant change was showed when compared to placebo.
|
Page generated in 0.0787 seconds