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. Retrospective chart review of the data of 6 children with GSD type 1 who underwent LT at National University Hospital, Singapore, from May 1998 to October 2018, was performed. The median (IQR) age at diagnosis of the GSD was 1 year (0.92-5.50) and at transplant was 13.88 years (11.46-16.38). All of the patients had elevated liver enzymes, hypercholesterolemia, hypertriglyceridemia, and hyperlactatemia prior to transplant. All of the patients are alive at the time of analysis and follow-up. None of them required a re-transplant. For the three patients who had hypoglycemia pretransplant, there was no recurrence post-transplant. All of the patients had normalization of liver enzymes by 1 year post-transplant. Long-term outcome of patients with GSD who underwent LT has been positive with improvement in metabolic control for most patients. We report the unusual finding of two siblings with persistent hyperuricemia post-transplant requiring allopurinol.

Study protocol for a randomised controlled trial evaluating the effectiveness of strengths model case management (SMCM) with Chinese mental health service users in Hong Kong.

INTRODUCTION: Strengths-based approaches mobilise individual and environmental resources that can facilitate the recovery of people with mental illness. Strengths model case management (SMCM), developed by Rapp and Goscha through collaborative efforts at the University of Kansas, offers a structured and innovative intervention. As evidence of the effectiveness of strengths-based interventions come from Western studies, which lacked rigorous research design or failed to assure fidelity to the model, we aim to fill these gaps and conduct a randomised controlled trial (RCT) to test the effectiveness of SMCM for individuals with mental illness in Hong Kong. METHODS AND ANALYSIS: This will be an RCT of SMCM. Assuming a medium intervention effect (Cohen's d=0.60) with 30% missing data (including dropouts), 210 service users aged 18 years or above will be recruited from three community mental health centres. They will be randomly assigned to SMCM groups (intervention) or SMILE groups (control) in a 1:1 ratio. The SMCM groups will receive strengths model interventions from case workers, whereas the SMILE groups will receive generic care from case workers with an attention placebo. The case workers will all be embedded in the community centres and will be required to provide a session with service users in both groups at least once every fortnight. There will be two groups of case workers for the intervention and control groups, respectively. The effectiveness of the SMCM will be compared between the two groups of service users with outcomes at baseline, 6 and 12 months after recruitment. Functional outcomes will also be reported by case workers. Data on working alliances and goal attainment will be collected from individual case workers. Qualitative evaluation will be conducted to identify the therapeutic ingredients and conditions leading to positive outcomes. Trained outcome assessors will be blind to the group allocation. ETHICS AND DISSEMINATION: Ethical approval from the Human Research Ethics Committee at the University of Hong Kong has been obtained (HRECNCF: EA1703078). The results will be disseminated to service users and their families via the media, to healthcare professionals via professional training and meetings and to researchers via conferences and publications. TRIAL REGISTRATION NUMBER: 12617001435370; Pre-results.

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. RESULTS: Of 32 pairs of donor and non-donor parents, 27 donor and 19 non-donor parents responded. The data of respondents were analyzed. Both donor and non-donor parents' SF-36v2 norm-based scores were average or above average as compared to the Singapore population. Donors who made lifestyle changes post-donation (adopting a healthy balanced diet, regular physical activity, quitting smoking, and moderate alcohol intake) were associated with lower GH (P = 0.009) and PF (P = 0.002) scores. Donors who took more than 3 months for full recovery had lower RP (P = 0.022) and BP scores (P = 0.038). On multivariate analysis, recipient complication of Clavien grade 3 or 4 was associated with increased RP score by 8.71 points (95% CI: 1.74-15.68), after adjusting for time taken for full recovery. Majority (88.8%) had self-reported recovery time under 6 months and returned to work within 3 months (74.0%). CONCLUSIONS: Donors with factors potentially associated with lower HRQOL may need more support to ensure better HRQOL outcomes post-donation.

Fullerene C60 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. Therefore, novel treatment agents with the ability to scavenge or generate radicals can potentially be meaningful in the treatment of various skin diseases, especially for those diseases that have limited effective treatment options. This viewpoint essay will discuss the potential of fullerene C60 , i.e. buckminsterfullerene, derivatives as novel treatment agents in dermatology. Fullerene C60 is an all carbon molecule with a unique dual ability; fullerene C60 can act as a radical scavenger or as an oxygen radical generator. Hence, fullerene C60 derivatives offers most interesting prospects as a therapeutic protective or therapeutic toxic agent. Because of their extraordinary physicochemical properties and numerous chemical functionalization possibilities, chemists can design derivatives with a wide scope of unique properties. The experimental data, mostly from in vitro and in vivo animal studies, on the safety and therapeutic potential of fullerene C60 derivatives, in the field of dermatology will be discussed.

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. The QOLEB was translated to Dutch according to protocol. Fifty-five adult patients across 4 EB subtypes participated. The QOLEB had excellant correlation with the Skindex-29 (ρs = 0.86), good correlation with the SF-36 physical score (ρs = -0.75), and moderate correlation with the SF-36 mental score (ρs = -0.43). The discriminative validity between the 4 different EB subtypes was significant (p = 0.002). The internal consistency was excellent (α = 0.905), and the test-retest reliability strong (ρs = 0.88). In conclusion, the Dutch QOLEB is a reliable and valid instrument for the assessment of the HRQoL in adult 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. METHODS: Retrospective analysis of the Dutch EB Registry revealed 4 patients with laminin-332-deficient JEB-nH who were treated with punch grafting. Punch grafting was performed according to protocol, and the patients were followed up. RESULTS: In the past 10 years we have treated 23 ulcers in 4 patients with JEB-nH using punch grafting without any complications or adverse effects. The ulcers had on average persisted 6 years before treatment. Healing rate after punch grafting was 70% (n = 16), with a mean healing time of 2 months. Thirty percent (n = 7) of the treated ulcers did not completely heal, but did show improvement. The recurrence rate after 3 months was 13% (n = 2), and was a result of renewed blistering. LIMITATIONS: Limitations of the study are the retrospective design, small number of patients, absence of a control group, and follow-up and ulcer measurement that were not standardized. CONCLUSIONS: Punch grafting can be used as a first-line treatment in small persistent ulcers in patients with JEB-nH. The method is easy, is inexpensive, has little risk of complications, and results in significant healing rates and improvement in quality of life.

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. METHODS: A search in our EB registry documenting all JEB patients visiting our EB referral center from 1990 through 2010 revealed 7 JEB patients who developed 1 or more SCCs. A systematic literature search revealed 8 relevant articles documenting a total of 7 patients who developed an SCC. RESULTS: In our EB registry we found 7 patients with JEB who developed an SCC; these were all adults classified with non-Herlitz type JEB. The frequency of developing an SCC among adult JEB patients (n = 28) in our center was therefore 25%. In the literature, we found 7 case reports of JEB complicated by SCC (also classified as JEB, non-Herlitz type), bringing the total number of documented cases to 14. The first SCC in JEB patients developed at an average age of 50 years (median, 52 years; range, 28-70 years). In 9 of 14 cases, multiple primary SCCs occurred, with a total of 45 SCCs. The SCCs are most often located on the lower extremities, in areas of chronic blistering, long-standing erosions, or atrophic scarring. Three patients (21%) developed metastases and died on average 8.9 years after diagnosis of the initial SCC. LIMITATIONS: This study was retrospective and the statistical analyses were based on a small number of patients. CONCLUSIONS: From their third decade, adult patients with JEB have an increased risk (1:4) of developing SCC on their lower extremities. The SCCs have a high recurrence rate and follow an aggressive course that results in death in 1 of 5 patients. We recommend annual checks of all JEB patients for SCC starting at 25 years of age.