Long-term outcome after liver transplantation in children with type 1 glycogen storage disease.

Patients with GSD type 1 (von Gierke disease) are initially managed medically to maintain normoglycemia. However, if they do not achieve good metabolic control, LT is then considered. We describe the long-term outcome of 6 children with GSD type 1 who underwent LT.

Health-related quality of life, clinical outcomes, and subjective experiences of parent donors of pediatric liver transplant recipients.

Purpose: The understanding of the HRQOL issues for parent donors of children who underwent LDLT is lacking. We evaluated the HRQOL of donor and non-donor parents, described their subjective experiences and identified factors associated with lower HRQOL post-donation.

Methods: This is a cross-sectional study of parent donors whose children underwent LDLT, using SF-36v2 Health Survey to measure HRQOL, and a self-developed questionnaire to evaluate their subjective experiences.

Pain Quality Assessment Scale for Epidermolysis Bullosa.

Pain is one of the most debilitating symptoms in epidermolysis bullosa (EB) leading to reduced quality of life. Pain in EB comprises both neuropathic and non-neuropathic qualities. An assessment of pain qualities has not formerly been completed in EB.

Fullerene C with cytoprotective and cytotoxic potential: prospects as a novel treatment agent in Dermatology?

It is known that an excess amount of (oxygen) radicals in the skin can lead to (local cellular) oxidative stress. From one side, oxidative stress can contribute to the existence of various (inflammatory) skin diseases such as acne vulgaris and alopecia, as well as to accelerated photo-ageing of the skin. From the other side, oxidative stress could also be a wanted process for curing particular skin diseases, such as skin cancer and microbial skin infections.

Health-related quality of life in epidermolysis bullosa: Validation of the Dutch QOLEB questionnaire and assessment in the Dutch population.

Defining the health-related quality of life (HRQoL) in patients suffering from the heritable blistering disease epidermolysis bullosa (EB) is important in assessing the efficacy of new treatments. The quality of life in EB questionnaire (QOLEB) is an English 17-item EB-specific HRQoL measurement tool. The aim of this study was to develop a validated and reliable QOLEB in Dutch and assess the HRQoL in Dutch EB patients.

Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) is a genetic, heterogeneous, trauma-induced blistering disease. Patients with laminin-332-deficient non-Herlitz junctional EB (JEB-nH) can have impaired wound healing witnessed by persistent, small, deep ulcers on the hands and feet that adversely affect the quality of life.

Objective: We sought to present the results of punch grafting in patients with laminin-332-deficient JEB-nH, and to discuss its therapeutic value.

Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.

Background: Squamous cell carcinoma (SCC) is the most severe complication and most common cause of death in patients with recessive dystrophic epidermolysis bullosa. The risk of developing SCC among patients with junctional epidermolysis bullosa (JEB) is unclear from the literature; however, in our center we noticed an unexpected number of SCCs among adult patients with JEB.

Objective: To review all documented patients with JEB in whom an SCC developed, both from our epidermolysis bullosa (EB) center and those reported in the literature.