Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient number 1) yet responded to somatostatin analogues. Patient number 1 developed various neurological deficits (including epilepsy), however patient number 2 experienced an entirely normal neurodevelopment. We believe this case shows how previous knowledge of the firstborn sibling's disease contributed to a better and timelier medical care in patient number 2, which could potentially explain her better neurological outcome despite their same genotype.S

Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD)

Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de «desarrollo sexual diferente» (DSD). Su origen es congénito; se clasifican en función de los cromosomas sexuales presentes en el cariotipo; las causas genéticas conocidas son muy diversas y heterogéneas, aunque algunos casos pueden ser secundarios a factores maternos o medioambientales. Su diagnóstico y tratamiento requieren siempre una atención médica y psicosocial multidisciplinar. El diagnóstico etiológico precisa la interacción entre las exploraciones clínicas, bioquímicas (hormonales), genéticas, de imagen y, eventualmente, quirúrgicas. El tratamiento debe abordar la asignación de género, la posible necesidad de tratamiento hormonal substitutivo (suprarrenal si hay insuficiencia suprarrenal y con esteroides sexuales si hay insuficiencia gonadal a partir de la edad puberal), la necesidad de intervenciones quirúrgicas sobre las estructuras genitales (actualmente se tiende a diferirlas) y/o sobre las gónadas (en función de los riesgos de malignización), la necesidad de apoyo psicosocial y, finalmente, una adecuada programación de la transición a la atención médica en las especialidades de adultos. Las asociaciones de personas afectadas tienen un papel fundamental en el apoyo a familias y la interacción con los medios profesionales y sociales. La utilización de Registros y la colaboración entre profesionales en Grupos de Trabajo de sociedades médicas nacionales e internacionales es fundamental para avanzar en mejorar los medios diagnósticos y terapéuticos que precisan los DSD.Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD

Social economic costs of type 1 diabetes mellitus in pediatric patients in Spain: CHRYSTAL observational study

AIMS: To estimate the social-economic costs of Type 1 Diabetes Mellitus (T1DM) in patients aged 0-17 years in Spain from a social perspective. METHODS: We conducted a cross-sectional observational study in 2014 of 275 T1DM pediatric outpatients distributed across 12 public health centers in Spain. Data on demographic and clinical characteristics, healthcare utilization and informal care were collected from medical records and questionnaires completed by clinicians and patients' caregivers. RESULTS: A valid sample of 249 individuals was analyzed. The average annual cost for a T1DM patient was €27,274. Direct healthcare costs were €4070 and direct non-healthcare cost were €23,204. Informal (familial) care represented 83% of total cost, followed by medical material (8%), outpatient and primary care visits (3.1%) and insulin (2.1%). Direct healthcare cost per patient statistically differed by glycated haemoglobin (HbA1c) level [mean cost €4704 in HbA1c ?7.5% (?58mmol/mol) group vs. €3616 in HbA1c<7.5% (<58mmol/mol) group)]; and by the presence or absence of complications and comorbidities (mean cost €5713 in group with complications or comorbidities vs. €3636 in group without complications or comorbidities). CONCLUSIONS: T1DM amongst pediatric patients incurs in considerable societal costs. Informal care represents the largest cost category

I Congresso Ibero-Americano de Bibliotecas Escolares

Actas de la primera edición del I Congreso Iberoamericano de Bibliotecas Escolares, CIBES 2015, organizado por la Universidad Carlos III de Madrid (España), la Universidad Estatal Paulista (Brasil) y el Ayuntamiento de Getafe (España). Celebrado: 21 - 23 de octubre de 2015 en la Universidad Estatal Paulista (Marília) y 26 - 28 de octubre de 2015 en la Universidad Carlos III de Madrid (Getafe)Universidad Carlos III de Madrid (España)Universidad Estatal Paulista (Brasil)Ayuntamiento de Getafe (España)Dimensiones y visiones de la biblioteca escolar en una Educación por competencias: la necesidad de una política estratégica / Miguel Ángel Marzal. -- Getafe ciudad educadora, lectora y escritora: Bibliotecas escolares / Lourdes Muñoz Santiuste. -- Presente y futuro: biblioteca escolar-CREA y proyectos interdisciplinares / Rosa Piquín. -- Cultura en información: un reto esencial de la biblioteca escolar / Mónica Baró. -- Bibliotecas escolares de Galicia: un mundo de oportunidades a favor de la Educación / Cristina Novoa. -- 10 años de la Red de Bibliotecas Escolares de Extremadura (REBEX) / Casildo Macías Pereira. -- Biblioteca Escolar y uso ético de la información para una Cultura de Paz / Ana Barrero Tíscar. -- Dinamización de la Biblioteca Escolar Plumita durante el curso escolar 2014/15 / María Antonia Cano Cañada. -- Experiencia de la creación de una biblioteca escolar / Susana Santos Martín. -- Grupo cooperativo Bibliotecas escolares en Red-Albacete / José Manuel Garrido Argandoña y Eva Leal Scasso. -- La BCREA "Juan Leiva". El fomento de la lectura desde la web social / Andrés Pulido Villar. -- Proceso de implantación de una herramienta de autoevaluación en la red de bibliotecas escolares de Extremadura (REBEX) / Casildo Macías Pereira. -- La biblioteca escolar: abriendo fronteras / Lorena Verónica Cabrera Orellana. -- O programa RBE e a avaliaçao das bibliotecas escolares: melhoria, desenvolvimiento e innovaçao / Elsa Conde. -- Profesional de Biblioteconomía y Documentación: esencial en la plantilla de la escuela / Pilar del Campo Puerta. -- Una mirada activa al proceso educativo desde la biblioteca escolar / María Jesús Fontela Fernández . -- Con otra mirada "La ilustración como vehículo de comunicación y aprendizaje en las bibliotecas escolares" / Pablo Jurado Sánchez-Galán. -- Fingertips. Recriar a biblioteca escolar na sala de aula / Rui Alfonso Mateus. -- Hablemos de libros. Cómo transformar una clase de literatura en una comunidad de interpretación de textos / Francisco César Díaz Rey. -- Inclusión social de familias inmigrantes a través de un programa de aprendizaje de la lengua castellana / Ana Carmen Tolino Fernández-Henarejos. -- O desenvolvimento de atividades de mediação de leitura em biblioteca escolar: o caso da biblioteca da Escola Sesc de Ensino Médio / Vagner Amaro. -- La biblioteca escolar. Proceso de enseñanza-aprendizaje de padres a hijos / Ana Carmen Tolino Fernández- Henarejos. -- Leo con y para los demás / Ismael Fernández Fernández, Ana María Moreno Vicente y Ana Beatriz Vicente Pérez. -- Nanas y arrullo. Poesía a la deriva / Bernardo Fuentes Navarrete y Carlos García-Romeral Pérez. -- Gestión y evaluación de servicios bibliotecarios para personas con dislexia: una biblioteca escolar inclusiva desde una perspectiva internacional / Carmen Jorge García-Reyes. -- Sueños lectores compartidos hechos realidad: la biblioteca escolar del C.E.I.P-S.E.S-A.A “LA PAZ” de Albacete / Ana Rosa Cabañero Tobarra, Juan Manuel Herráez, Eva Leal Scasso, María Marín Sánchez, Ana Belén Medrano Martínez y María José Nortes Ruipérez. -- El programa biblioteca escuela en Civican. La literatura como elemento motivador para la alfabetización informacional / Villar Arellano Yanguas. -- La competencia digital en el diseño curricular: desde la biblioteca al aula / Felicidad Campal García. -- O deselvomimento da pesquisa escolar por meio da competência em informaçao / Luciane de Fátima Cavalcante Beckman y Marta Leandro da Mata. -- Proyecto escolar de investigación documental "Te pillé leyendo" / José Manuel Garrido Argandoña. -- Aprender com a Biblioteca Escolar: formar para as literacias / Paula Correia y Isabel Mendinhos. -- Sucedió en el siglo XX / María Antonia Becerra Montalbán, Ángel Bernabé Muñoz y Sofía Vaz Romero. -- El Club de lectura en la nube / Belén Benito Blázquez y Ana Ordás García. -- Promover a leitura e a escrita na era digital: prácticas nas bibliotecas escolares / María Raquel Ramos. -- A biblioteca escolar e o desafío da interculturalidade: o projeto Ser + cidadao / María da Conceição Tomé. -- Cuando la competencia digital encontró a la alfabetización informacional o Mucho ruido y pocas nueces / Felicidad Campal García. -- Hora de ler, un programa para el fomento de la lectura en contexto educativo / Cristina Novoa. -- Hábitos de lectura para las competencias en información y alfabetización en información en bibliotecas escolares de Puerto Rico / Karen Denise Centeno Casillas. -- Repositorios digitales en las bibliotecas escolares andaluzas: situación, modelos y herramientas para su creación / Dolores Olmos Olmos y Andrés Pulido Villar. -- Trabajando las competencias clave con las aventuras de Mozarito en Extremadura / María Teresa Carballosa González y María Esther Nieto Vidal. -- Análisis de modelos de evaluación de la web de la biblioteca escolar / Raúl Cremades García. -- Emociónate con las historias: El bosque de las emociones e historias con mucho teatro / Esther Luis Pérez y Ana María Peromingo Fernández. -- Biblioteca escolar de innovación y continuación / E. María Guerrero Palacios y Silvia Mora Ramírez. -- Uso de estándares y licencias para la creación y difusión de contenidos en las bibliotecas escolares / José Luis Barreiro Cebey. -- La biblioteca escolar digital móvil / Javier Fernández Delgado. -- Uso de aplicaciones móviles para el desarrollo de la competencia lingüística. Proyecto Hansel App Gretel / Dolores Olmos Olmos. -- A memória e a mediação segundo Vigotski / Leda Maria Araújo, Patricia Celia Santana, Sueli Bortolin y Leticia Gorri Molina. -- Bibliotecas escolares como tema de estudo dos alunos de graduação em blioteconomia do Instituto de Ensino Superior da FUNLEC: estado da arte / Tiago Pereira Nocera y Rodrigo Pereira. -- Ações de mediação da leitura e da informação em bibliotecas escolares: um olhar sobre as bibliotecas dos Colégios de Aplicação / Tatyanne Christina Gonçalves Ferreira Valdez y Alberto Calil Júnior. -- Mediação pedagógica numa biblioteca de escola pública em Londrina / Rovilson José da Silva, Teba Silva Yllana y Sueli Bortolin. -- Utilização de categorias por cores em sistema de biblioteca voltado ao público infanto-juvenil / Liliana Giusti Serra. -- Atividades de ensino dos atos de leitura com crianças em risco social / Adriana Naomi Fukushima da Silva y Dagoberto Buim Arena. -- Biblioteca escolar: espaço de significados entre alunos, professores e bibliotecários / Rodrigo Barbosa Paulo, Marisa Xavier, Helen Castro Casarin y Creuza Barbaroto. -- A Biblioteca Escolar no Contexto da Legislação e do Processo Educativo / Eliane Lourdes da Silva Moro, Francisca Rosaline Leite Mota y Raimundo Martins de Lima. -- O jornal impresso como fonte de informação: a importância da formação de leitores críticos / Mariana Pícaro Cerigatto. -- Bibliotecas escolares no estado do Rio Grande do Sul: a trajetória de realização dos fóruns gaúchos pela melhoria das bibliotecas escolares / Eliane Lourdes da Silva Moro y Lizandra Brasil Estabel. -- O acesso à informação dos usuários surdos na biblioteca escolar / André Luís Onório Coneglian y Mayara Melo Santana. -- Aprendizagem coletiva de bibliotecários e a competência de pesquisa dos docentes: o caso do Instituto Federal do Espírito Santo / Maristela Almeida Mercandeli Rodrigues y Beatriz Quiroz Villardi. -- Biblioteca escolar: atores, parâmetros e competências / Mavi Galante Mancera Dall´Acqua Carvalho y Claudio Marcondes de Castro Filho. -- Estratégias de aprendizagem de escrita no Ensino Fundamental II / Érika Christina Kohle. -- Bebês e livros: leitura nas bebetecas. Kenia Adriana de Aquino Modesto Silva, Juliane Francischeti Martins Motoyama y Renata Junqueira de Souza. -- Práticas alternativas para organização de acervos nos espaços de leitura em ambientes escolares / Luciana Souza Gracioso, Ariovaldo Alves, Débora Nascimento, Suelen Redondo, Tainara Torika Kiri de Castro, Elizabete Angelon y Eduardo Barbosa. -- Reflexões sobre a modelagem e criação de uma Rede Virtual de Leitores para Bibliotecas Escolares / Carla Floriana Martins y Raoni Guerra Rajão. -- Biblioteca escolar: espaço de formação leitora? / Silvana Ferreira de Souza Balsan y Renata Junqueira de Souza. -- “Se a Biblioteca Escolar é minha mãe, o Google é meu pai”: representações da relação entre Biblioteca Escolar e Google no imaginário de alunos do ensino técnico / Adriana Bogliolo Sirihal-Duarte, Maria L. Amorim Antunes y Raquel Miranda Vilela Paiva. -- Desafios e propostas para a universalização das bibliotecas escolares no Brasil e na Espanha / Rodrigo Pereira, Daniela Spudeit y Fernanda de Sales. -- Bibliotecário educador: possibilidades de atuação no contexto da biblioteca escolar / André Carlos da Silva, Valéria Martin Valls y Mariana de Paula Silva. -- Uma ONG para Bibliotecas Escolares : estratégia para ampliar a igualdade e capacidade de acesso e uso da informação e educação escolar de qualidade / Suelen Camilo Ferreira y Luciana de Souza Gracioso. -- O aluno com deficência: o papel do bibliotecário na disponibilidade de recursos acessíveis na biblioteca escolar / Adriano de Sales Coelho, Rosilene de Melo Oliveira y Marcos Pastana Santos. -- Biblioteca digital virtual e o uso do tablete: uma possibilidade de construção de novas práticas de leitura na escola / Barbara Cibelli da Silva Monteagudo y Dagoberto Buim Arena. -- A importância da biblioteca na educação de crianças de 0 a 3 anos / Yngrid Karolline Mendonça Costa y Cyntia Graziella Guizelim Simões Girotto. -- Comportamento Informacional de adolescentes: a relação com bibliotecas e escolas / Nelson Sebastian Silva-Jerez y Helen de Castro S. Casarin

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat