Implementation of a virtual community of practice to promote the empowerment of middle-aged people with multimorbidity: study protocol of a randomised controlled trial.

INTRODUCTION: Empowering people living with multimorbidity (multiple chronic conditions) to gain greater confidence in managing their health can enhance their quality of life. Education focused on self-management is a key tool for fostering patient empowerment and is mostly provided on an individual basis. Virtual communities of practice (VCoP) present a unique opportunity for online education in chronic condition self-management within a social context. This research aims to evaluate the effectiveness/cost-effectiveness of individualised, online self-management education compared with VCoP among middle-aged individuals living with multiple chronic conditions. METHODS AND ANALYSIS: People aged 30-60, living with ≥2 chronic conditions and receiving care in primary care (PC) centres and outpatient hospital-based clinics in Madrid and Canary Islands will enrol in an 18-month parallel-design, blinded (intervention assessment and data analysts), pragmatic (adhering to the intention-to-treat principle), individually randomised trial. The trial will compare two 12-month web-based educational offers of identical content; one delivered individually (control) and the other with online social interaction (VCoP, intervention). Using repeated measures mixed linear models, with the patient as random effect and allocation groups and time per group as fixed effects, we will estimate between-arm differences in the change in Patient Activation Measure from baseline to 12 months (primary endpoint), including measurements at 6-month and 18-month follow-up. Other outcomes will include measures of depression and anxiety, treatment burden, quality of life. In addition to a process evaluation of the VCoP, we will conduct an economic evaluation estimating the relative cost-effectiveness of the VCoP from the perspectives of both the National Health System and the Community. ETHICS AND DISSEMINATION: The trial was approved by Clinical Research Ethics Committees of Gregorio Marañón University Hospital in Madrid/Nuestra Señora Candelaria University Hospital in Santa Cruz de Tenerife. The results will be disseminated through workshops, policy briefs, peer-reviewed publications and local/international conferences. TRIAL REGISTRATION NUMBER: NCT06046326.

New challenges in management of phenylketonuria in pregnancy: a case report.

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allowed an early diagnosis and treatment of the disease. As a result, an increasing number of women diagnosed with phenylketonuria have reached the reproductive phase of life in good health, and management of pregnancy in women with PKU is becoming more frequent. CASE PRESENTATION: In this study, we report the case of a 28-year-old Caucasian patient being followed up for phenylketonuria at Ramón y Cajal Hospital's Metabolic Diseases Unit. We describe the patient's gestation, impacted by her and her partner's diagnosis of PKU, classic and mild phenotypes, respectively, resulting in the fetus affectation. CONCLUSIONS: The description of PKU management-diagnosis, follow-up, and treatment-for both that of patient and that of the gestation with fetus affectation covers a wide sample scenario that shows the effectiveness of pregnancy planning and monitoring of females with PKU and questions the need to carry out a genetic study of gene PKU in the study of fertility.

Improving management of severe hypoparathyroidism: a case series.

INTRODUCTION: Hypoparathyroidism is considered a rare endocrine disease. Despite being a deficiency of parathyroid hormone, the standard therapy is based on oral calcium and active vitamin D supplementation. This approach provides satisfactory management in most cases but may be inadequate for patients in the most complex spectrum of the disease. Other therapies are being explored, and among them, the use of recombinant human parathyroid hormone (PTH) has proved to decrease the requirements of calcium and active vitamin D to reach adequate therapeutic goals. OBJECTIVE: We aimed to provide information on the effectiveness of the current recombinant parathyroid hormone analogs in the clinical management of difficult to control cases of hypoparathyroidism. METHOD AND MATERIALS: We report our experience using teriparatide and PTH (1-84) through five complex cases of hypoparathyroidism of diverse etiologies. We describe each case and report the effectiveness of treatment in clinical practice. RESULTS: Four patients with postsurgical hypoparathyroidism and one patient with autoimmune hypoparathyroidism, all of them with suboptimal control under the standard treatment with calcium and calcitriol supplements or calcium gluconate infusion, are presented. They were all started on teriparatide or PTH (1-84), and all of them showed a diminishment of symptoms and were able to maintain normocalcemia without parenteral calcium despite a reduction of oral treatment. CONCLUSION: This article highlights the effectiveness and safety of hormonal replacement treatment in difficult to manage hypoparathyroidism and provides evidence which justifies its off-label prescription in the case of teriparatide. We consider that this treatment should be considered in cases in which standard treatment fails to reach adequate therapeutic goals.

Estudio descriptivo de las cetoacidosis atendidas en urgencias de un hospital de la Comunidad de Madrid mediante la herramienta Savana Manager / Diabetic ketoacidosis in a emergency department of a hospital in Madrid (Spain) using the Savana Manager tool

Objetivo: El objetivo del estudio fue describir las características y evolución de los pacientes que acudieron a las urgencias de nuestro hospital y fueron diagnosticados de cetoacidosis diabética (CAD) utilizando la novedosa herramienta de Big Data Savana. Método: Estudio retrospectivo descriptivo de los pacientes atendidos en urgencias del Hospital Universitario Infanta Leonor durante los años 2011 al 2016 con diagnóstico de CAD. La búsqueda se realizó con Savana Manager. Resultados: Se diagnosticaron 95 episodios de CAD en 68 pacientes. Del total de episodios de CAD, 57 fueron en diabéticos tipo 1 (de ellos 4 LADA), 25 en diabéticos tipo 2, 2 en diabéticos postpancreatectomía y 12 fueron debuts diabéticos. Del total, 61 (64,2%) requirieron ingreso hospitalario, de ellos 23 (24,2%) ingresaron en UCI. La media de HbA1c fue de 10,6 ± 2,1%. Tres pacientes requirieron reingreso tras el alta. La mortalidad fue muy baja con el fallecimiento en 1 paciente diagnosticado simultáneamente de cáncer pulmonar. Los desencadenantes de la CAD fueron: 35 casos (36,8%) falta de adherencia al tratamiento, 31 (32,6%) infecciones, 12 (12,6%) debuts, 8 (8,4%) varias causas y 9 (9,5%) no se pudo determinar la causa. Se clasificaron como CAD de gravedad leve un 28%, un 38% como de gravedad moderada y 34% como graves. La duración del ingreso no se relacionó con la severidad de la cetoacidosis. Conclusiones: La CAD es una complicación grave que afecta tanto a diabéticos tipo 1 como a tipo 2 con elevado porcentaje de ingresos hospitalarios y en UCI, aunque con baja mortalidad en nuestro medio. La duración de los ingresos no se relaciona con la severidad del cuadro.

Objective: the study was designed to describe the clinical features and evolution of the diabetic patients attended in our hospital emergency department with diabetic ketoacidosis (DKA) using the novel Big Data tool Savana. Method: Retrospective descriptive study of the patients attended in the emergency room of the Infanta Leonor University Hospital during the years 2011 to 2016 with diagnosis of CAD. The search was made with Savana. Results: 95 episodes of DKA were diagnosed in 68 patients. Of the total episodes of CAD 57 were in type 1 diabetics (of which 4 were LADA), 25 in type 2 diabetics, 2 in diabetics postpancreatectomy and 12 were new onset of diabetes. Of the total, 61 (64.2%) required hospital admission, of which 23 (24.2%) were admitted to the intensive care unit (ICU). The mean HbA1c was 10.6 ± 2.1%. Three patients required readmission after discharge. Mortality was very low with death in 1 patient simultaneously diagnosed of lung cancer. The triggers of CAD were: 35 cases (36,8%) lack of adherence to treatment, 31 (32.6%) infections, 12 (12.6%) new onset, 8 (8,4%) various causes and 9 (9.5%) the cause could not be determined. They were classified as mild DKA 28%, 38% as moderate and 34% as severe. The duration of admission was not related to the severity of ketoacidosis. Conclusions: DKA is a serious complication that affects both, type 1 and type 2 diabetics patients, with a high percentage of hospital and ICU admissions, although with low mortality in our environment. The lenght of the stay in hospital is not related to the severity of the DKA.