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Hernandez-Martin A.,Servicio de Dermatologia | Torrelo-Fernandez A.,Servicio de Dermatologia | De Lucas-Laguna R.,Hospital Universitario La Paz | Casco F.,Servicio de Anatomia Patologica | And 6 more authors.
Actas Dermo-Sifiliograficas | Year: 2013

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was to try to structure the care of ichthyosis patients in Spain. As happens in other rare diseases, because of the low prevalence of ichthyosis and the absence of designated referral centers, the number of patients treated in each center is very low and few dermatologists have any real clinical experience with this condition or know how to order diagnostic genetic tests. This article summarizes the presentations given at the symposium and is intended as a reference for anyone interested in the subject. © 2012 Elsevier España, S.L. and AEDV.

Davila-Seijo P.,Complexo Hospitalario de Pontevedra CHOP | Hernandez-Martin A.,Hospital Infantil Nino Jesus | Morcillo-Makow E.,Dystrophic Epidermolysis Bullosa Research Association DEBRA | Lucas R.D.,Hospital Universitario La Paz | And 8 more authors.
Orphanet Journal of Rare Diseases | Year: 2013

Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently updated systematic review showed that the research evidence about DEB therapies is poor. As new trials in DEB are difficult and expensive, it is important to prioritizise research that patients and clinicians consider more relevant. Objectives. To describe and prioritize the most important uncertainties about DEB treatment shared by patients, carers and health care professionals (HCPs) in order to promote research in those areas. Methods. A DEB Priority Setting Partnership (PSP) was established, including patients, carers and HCPs. DBE uncertainties were gathered from patients and clinicians, and prioritized in a transparent process, using the methodology advocated by the James Lind Alliance. Results: In the consultation stage, 323 uncertainties were submitted by 58 participants. Once the duplicated and non-treatment uncertainties were removed, the remainder were reduced to a list of 24 most voted questions. These 24 uncertainties were prioritized in a final workshop where a balanced number of patients, carers and HCPs selected the top 10 therapy uncertainties. The final list includes interventions in wound care, itch and pain management, treatment and prevention of syndactyly, cancer prevention and future promising therapies. Conclusions: The final list of the top 10 treatment uncertainties on the management of DEB provides guidance for researchers and funding bodies, to ensure that future research answers questions that are important to both clinicians and patients. The method proposed by the James Lind Alliance is feasible for very rare disorders. © 2013 Davila-Seijo et al.; licensee BioMed Central Ltd.

Wedgeworth E.,St Johns Institute Of Dermatology | Glover M.,Great Ormond Street Hospital NHS Foundation Trust | Irvine A.D.,National Childrens Research Center | Neri I.,University of Bologna | And 51 more authors.
British Journal of Dermatology | Year: 2016

Background Oral propranolol is widely prescribed as first-line treatment for infantile haemangiomas (IHs). Anecdotally, prescribing practice differs widely between centres. Objectives The Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce was founded to establish patterns of use of propranolol in IHs. Methods Participating centres entered data on all of their patients who had completed treatment with oral propranolol for IHs, using an online data capture tool. Results The study cohort comprised 1097 children from 39 centres in eight European countries. 76·1% were female and 92·8% had a focal IH, with the remainder showing a segmental, multifocal or indeterminate pattern. The main indications for treatment were periocular location (29·3%), risk of cosmetic disfigurement (21·1%) and ulceration and bleeding (20·6%). In total 69·2% of patients were titrated up to a maintenance regimen, which consisted of 2 mg kg-1 per day (85·8%) in the majority of cases. 91·4% of patients had an excellent or good response to treatment. Rebound growth occurred in 14·1% upon stopping, of whom 53·9% were restarted and treatment response was recaptured in 91·6% of cases. While there was no significant difference in the treatment response, comparing a daily maintenance dose of < 2 mg kg-1 vs. 2 mg kg-1 vs. > 2 mg kg-1, the risk of adverse events was significantly higher: odds ratio (OR) 1 vs. adjusted OR 0·70, 95% confidence interval (CI) 0·33-1·50, P = 0·36 vs. OR 2·38, 95% CI 1·04-5·46, P = 0·04, Ptrend < 0·001. Conclusions The PITCH survey summarizes the use of oral propranolol across 39 European centres, in a variety of IH phases, and could be used to inform treatment guidelines and the design of an interventional study. © 2015 British Association of Dermatologists.

Gonzalez-Vicent M.,Hospital Infantil Nino Jesus | Diaz M.A.,Hospital Infantil Nino Jesus
Journal of Pediatric Hematology/Oncology | Year: 2011

We conducted a retrospective study assessing the predictive value of early full donor chimerism status for relapse after allogeneic peripheral blood progenitor cell transplantation in 40 children aged between 1 and 16 years (median 8) with leukemia. The only variable that had a significant influence on chimerism status in either univariate or multivariate analysis was the number of CD34 cells infused. We found that the patients who were in complete donor chimerism by day +30 had a lower probability of relapse than those who were not (14%±6% versus 54%±15%; HR, 5.24; 95% confidence interval, 2.10-43.63; P=0.003). Mixed chimerism by day +30, absence of chronic GvHD, and advanced disease at transplantation were significant risk factors for relapse in our patients. Children who presented early complete chimerism had a probability of developing chronic graft versus host disease significantly higher than patients with mixed chimerism (P=0.04). Therefore, the analysis of chimerism kinetic in children undergoing peripheral blood progenitor cell transplantation would permit an early identification of patients at risk of relapse and patients with high risk of developing chronic graft versus host disease. © 2011 Lippincott Williams & Wilkins, Inc.

Isasi C.,Hospital Puerta de Hierro | Colmenero I.,Hospital Infantil Nino Jesus | Casco F.,Hospital Infantil Nino Jesus | Tejerina E.,Hospital Puerta de Hierro | And 4 more authors.
Rheumatology International | Year: 2014

Fibromyalgia (FM) syndrome is a disabling clinical condition of unknown cause, and only symptomatic treatment with limited benefit is available. Gluten sensitivity that does not fulfill the diagnostic criteria for celiac disease (CD) is increasingly recognized as a frequent and treatable condition with a wide spectrum of manifestations that overlap with the manifestations of FM, including chronic musculoskeletal pain, asthenia, and irritable bowel syndrome. The aim of this report was to describe 20 selected patients with FM without CD who improved when placed on a gluten-free diet. An anti-transglutaminase assay, duodenal biopsy, and HLA typing were performed in all cases. CD was ruled out by negative anti-transglutaminase assay results and absence of villous atrophy in the duodenal biopsy. All patients had intraepithelial lymphocytosis without villous atrophy. Clinical response was defined as achieving at least one of the following scenarios: remission of FM pain criteria, return to work, return to normal life, or the discontinuation of opioids. The mean follow-up period was 16 months (range 5–31). This observation supports the hypothesis that non-celiac gluten sensitivity may be an underlying cause of FM syndrome. © 2014, The Author(s).

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