Glucagon stimulation test to assess growth hormone status in Prader-Willi syndrome.

PURPOSE: Growth hormone deficiency (GHD) must be confirmed before starting treatment in adults with Prader-Willi syndrome (PWS). Most studies use the growth-hormone-releasing hormone plus arginine (GHRH-arginine) test. No data are available on the glucagon stimulation test (GST) in PWS. We compared the utility of fixed-dose (1 mg) GST versus GHRH-arginine test in diagnosing GHD. METHODS: Adults and late adolescents with PWS underwent both tests on separate days. In the GHRH-arginine test, GHD was defined according to body mass index. In the GST, two cutoffs were analyzed: peak GH concentration < 3 ng/mL and < 1 ng/mL. For analyses, patients were divided into two groups according to body weight (≤ 90 kg and > 90 kg). RESULTS: We analyzed 34 patients: 22 weighing ≤ 90 kg and 12 weighing > 90 kg. In patients weighing ≤ 90 kg, the two tests were concordant in 16 (72.72%) patients (k = 0.476, p = 0.009 with GST cutoff < 3 ng/mL, and k = 0.450, p = 0.035 with GST cutoff < 1 ng/mL). In patients weighing > 90 kg, the two tests were not concordant with GST cutoff < 3 ng/mL, but were concordant in 11 (91.6%) patients (k = 0.833, p = 0.003) with GST cutoff < 1 ng/mL. GH peaks on the two tests correlated (r = 0.725, p = 0.008). CONCLUSION: Fixed-dose (1 mg) GST using a peak GH cutoff of < 3 ng/mL or < 1 ng/mL promises to be useful for screening for GHD in adults and late adolescents with PWS. However, in those weighing > 90 kg, the < 1 ng/mL cutoff seems better. Larger studies are necessary to establish definitive glucagon doses and cutoffs, especially in extremely obese patients.

Controversias del tratamiento con hormona de crecimiento en pacientes con síndrome de Prader-Willi / Controversies in growth hormone treatment in patients with Prader-Willi syndrome

Introducción: El tratamiento con hormona de crecimiento (GH) en pacientes con síndrome de Prader-Willi (SPW) está aprobado en Europa desde 2001. A diferencia de otras indicaciones de la GH, su uso no solo está enfocado a incrementar la talla final, sino también a mejorar la composición corporal, la fuerza muscular y la capacidad cognitiva. Sin embargo, sigue habiendo dudas sobre los beneficios reales del tratamiento y sus potenciales efectos adversos. Este hecho limita en parte el uso de la GH, y dificulta que se beneficien de manera sistemática todos los pacientes susceptibles de ser tratados. Material y métodos: Se ha realizado una revisión de la literatura en Pubmed introduciendo "Prader-Willi" y "hormona de crecimiento" como palabras clave, en inglés y castellano, sin límite de fecha de publicación. Resultados: Se discuten los condicionantes que tradicionalmente han limitado el uso de la terapéutica con GH, y se actualizan ciertos aspectos controvertidos, como la edad de inicio del tratamiento y su prolongación en la edad de transición y la edad adulta. Conclusiones: El tratamiento con GH es seguro y eficaz en pacientes con SPW. La GH produce una mejora en el crecimiento, pero también aporta beneficios importantes en la composición corporal, el perfil metabólico y la función cognitiva. El inicio del tratamiento debería ser lo más precoz posible, preferiblemente antes del año de edad

Introduction: Treatment with growth hormone (GH) in patients with Prader Willi syndrome (PWS) has been approved in Europe since 2001. Unlike other GH indications, its use is not only focused on increasing final height, but also on improving body composition, muscular strength and cognitive capacity. However, there are still uncertainties regarding the real benefits of the treatment and its potential adverse effects. This partly limits the use of GH and prevents that every potential candidate systematically benefits from the treatment. Material and methods: A review of the literature was performed in Pubmed using «Prader Willi» and "growth hormone" as key words, in both English and Spanish, with no publication date limit. Results: Main conditioning factors that have traditionally limited the use of GH therapy are discussed and controversial aspects, such as age at treatment start and its continuation at the transition and adult age, are reviewed and updated. Conclusions: GH therapy is safe and effective in patients with PWS. GH not only improves linear growth but also provides significant benefits in body composition, metabolic profile and cognitive function. The onset of treatment should be as early as possible, preferably before one year of age

First cases of giant pseudocyst complicating inguinal hernia repair.

INTRODUCTION: Giant pseudocyst is a rare type of complication following incisional hernia repair and its correct management is still unknown. MATERIALS AND METHODS: Herein, we describe two unreported cases of giant pseudocyst after inguinal hernia repair. Both patients underwent surgical treatment with partial excision of the pseudocapsule. The two patients were free from recurrence after 6 and 10 months of follow up, respectively. CONCLUSION: Subtotal surgical removal of the pseudocapsule is a definitive treatment.

Red Europea de Genética de la Diabetes Tipo 1 / European Type 1 Diabetes genetics network

Incluso los estudios genéticos más amplios realizados hasta el momento tienen un poder estadístico insuficiente para detectar genes que confieren un riesgo (o protección) moderado de desarrollar una diabetes tipo 1.Para solventar esta limitación, se ha establecido el Consorcio Internacional de Genética de la Diabetes Tipo 1 (T1DGC), cuyo objetivo es reclutar a 2.800 parejas de hermanos con diabetes tipo 1 en todo el mundo. La Red Europea de Genética de la Diabetes Tipo 1 está formada por más de 100 centros de 28 países, 6 de ellos españoles, que colaboran con el fin de estudiar la genética y la patogenia de la diabetes tipo 1.Como parte del Consorcio Internacional, el primer objetivo de la Red Europea es incluir a 1.200 familias con, al menos, 2 hermanos con diabetes tipo 1 diagnosticada antes de los 35 años de edad, aunque el fin último es conseguir una colaboración más estrecha entre los países europeos participantes, con transferencia de conocimientos de unos centros a otros e intercambio de recursos. Aunque la participación española es significativa, aún existen muchos centros que podrían hacer una buena aportación a este proyecto y obtener los beneficios de una colaboración internacional de estas características. La participación sigue abierta y la inclusión de pacientes continuará hasta diciembre de 2006 (AU)

Previous studies searching for genesassociated with type 1 diabetes have been limited by sample size. To identify genesassociated with a moderate risk of developing the disease (or conferring protection against it), the Type 1 Diabetes Genetics Consortium (T1DGC) has been established with the aim of recruiting 2800sib-pair families around the world. The European Type 1 Diabetes Genetics Network (ET1DGN) is a collaborative venture that involves more than 100European centers, including six from Spain, whose aim is to study the genetics and pathogenesis of type 1 diabetes. As part of the T1DGC, its main objective is to recruit 1200 families in which at least two siblings have type 1 diabetes diagnosed before the age of 35. The ultimate goal is to promote further and closer collaboration between the European centres involved, which will include transferring knowledge from some centers to others and sharing resources. Although there is already a significant level of participation in Spain, there are still many centers that could contribute to the aims of this project, aswell as enjoy the benefits of taking part in an international endeavor of this kind. Participation is still open, and family recruitment will continue until December2006 (AU)