Evaluation and characterization of multimorbidity profiles, resource consumption and healthcare needs in extremely elderly people.

OBJECTIVES: Spanish population lifespan is one of the longest in the world. Moreover, it is known that elderly people have less chronic illnesses associated with aging. Our aims were to determine how Clinical Risk Group (CRG) predicts future use of healthcare resources in extremely elderly people without diabetes (T2DM) and to explore CRG correlation with health conditions. DESIGN: Prospective cross-sectional study. SETTING: Rio Hortega University Hospital. PARTICIPANTS: Hospitalized patients >80 years old without T2DM, during 2017. MAIN OUTCOME MEASURES: Mental status was evaluated using Pfeiffer test (SPMQS), Basic Activities of Daily Living (BADLs) and Instrumental Activities of Daily Living (IADLs) were estimated using the Older Americans Resources and Services questionnaire. Comorbidity was evaluated using Charlson index (CI) and health-related quality of life (HRQoL) with EuroQoL (EQ5D3L). CRG classification system was obtained from electronic clinical records. Data were analyzed using SPSS v.15.0. RESULTS: In total, 305 patients were identified (59% women), mean age 88 ± 5 and 38% were aged >90. Estimated HRQoL was 0.43 ± 0.33 for EQ5D3L-index-value. Mean dependence level was 6.2 ± 5 for BADLs and 9.2 ± 5 for IADLs. In total, 31.6% of patients had severe cognitive impairment with a mean score of 5.4 ± 3.6 in SPMQS. In total, 30.2% of patients were categorized as G3, and presented high comorbidity more frequently than the rest. Corrected CI mean score was 6.2 ± 1.7. Significant relationship was founded in survival time, number of admissions and CI score. CONCLUSIONS: Using predictive risk models like CRG is supposed to assess the complexity of morbidity but in our extremely elderly population partially fail in stratify and predict health resource consumption.

Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.

BACKGROUND: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. The most severe form of this disease is X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life. Two genes commonly associated with XLRP have been previously identified. MATERIAL AND METHODS: One Spanish family with confirmed XLRP was studied for mutations using direct sequencing. A genotype-phenotype correlation with pathologic myopia (PM) is detailed. RESULTS: A new pathogenic mutation in the third exon of the RP GTPase regulator (RPGR) was identified: a variant c212C>G (pSER71*). This mutation appears as a hemizygous variant in the male proband with RP, and as heterozygous variant in the females of this pedigree who invariably exhibit symmetrical PM in both eyes. CONCLUSION: A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP.

«Doctora, yo como pelo». Tricotilomanía con tricofagia / «Doctor, I Eat Hair». Trichotillomania with Tricophagia

Se presenta caso de mujer que dice que se come el pelo desde la infancia para lograr alivio momentáneo en situaciones estresantes.En la anamnesis, refiere antecedentes familiares con otros comportamientos compulsivos, incluyendo un familiar que también come pelo.Conclusiones: es clave una anamnesis bien estructurada que explore trastornos neurológicos y psiquiátricos bien definidos, así como el diseño de un árbol genealógico lo más exhaustivo posible para descartar implicaciones genéticas.Descartar trastornos dermatológicos con la dermatoscopia.Es fundamental concienciar a la paciente de posibles complicaciones y comorbilidades como las obstrucciones digestivas y avanzar la pobre eficacia de los tratamientos con psicofármacos.(AU)

There is a case of a woman who refers to eating her hair since childhood for momentary relief in response to stressful situations. In the anamnesis, she refers to a family history with other compulsive behaviors, including another member who also eats her hair.Conclusions: a well-structured history that explores well-defined neurological and psychiatric disorders as well as the design of a family tree as exhaustive as possible to rule out genetic implications is key.Rule out dermatological disorders with the help of dermoscopy.It´s essential to make the patient aware of possible complications, comorbidities such as digestive obstructions and advance the poor effectiveness of treatments with psychotropic drugs(AU)

Minimización de errores preanalíticos y su repercusión en el control del laboratorio clínico / Minimising pre-analytical errors and its impact on the control of clinical laboratory

Los errores producidos en el laboratorio clínico han sido estudiados durante mucho tiempo, siendo actualmente una parte muy importante en los sistemas de gestión de la calidad, enmarcados dentro de la cultura de seguridad del paciente. Para minimizar los errores en el laboratorio clínico nos hemos apoyado en los últimos años en el avance tanto tecnológico como informático en el campo del diagnóstico. La gran capacidad de gestión de los sistemas informáticos de laboratorio, junto con la tendencia hacia la concentración de gran parte de la rutina en un laboratorio central, o corelab, hace que los laboratorios actuales estén preparados para el aumento de solicitudes de pruebas, pudiendo minimizar los errores asociados al manejo de un alto volumen de muestras. Dentro de la clasificación de los errores según la fase en la que se producen, los errores analíticos han sido los que más han disminuido gracias a la automatización, siendo más difíciles de controlar los errores en las fases pre y postanalíticas, ya que aspectos como la extracción de muestras o la interpretación de ciertos resultados no son susceptibles de automatización. A continuación, destacamos los errores más comunes, principalmente aquellos producidos durante la fase preanalítica, incluyendo tanto a aquellos que derivan de un uso inapropiado de la solicitud de pruebas de laboratorio como a los propiciados por el diseño del espacio en el laboratorio clínico (AU)

Clinical laboratory errors have been the subject of many studies over the years, and now play a very important role in quality management systems within the framework of the patient safety culture. In recent years we have had the support of technological and computer advances in the diagnostic field to help minimise errors. The large capacity of Laboratory Information Management Systems, along with the trend towards the concentration of much of the routine tests in a central laboratory, or ‘Core lab’, means that today's laboratories are prepared for the increase in test requests, and should be able to minimise errors associated with managing a high volume of samples. Within the classification of errors according to the phase in which they occur, analytical errors can be seen to have decreased with automation. It is more difficult to handle errors in pre- and post-analytical phases as aspects such as obtaining specimens or the interpretation of certain results are not amenable to automation. The most common errors are presented, especially those produced during the pre-analytical phase, including those arising from the improper use of laboratory test requesting, as well as those brought about due to the design of the clinical laboratory space (AU)

Diagnóstico prenatal de síndrome de Bruck en una paciente con tres gestaciones consecutivas afectas / Prenatal diagnosis of Bruck syndrome in a patient with three consecutive pregnancies affected

La osteogénesis imperfecta es una enfermedad genética autosómica dominante, en la que existe un defecto en la formación de colágeno. Esto se traduce en distintos grados de debilidad y fragilidad ósea. Existen una serie de síndromes que durante años fueron clasificados como tipos de osteogénesis imperfecta, pero que más tarde se ha comprobado que a pesar de causar un fenotipo similar, no son causados por mutaciones en los genes del procolágeno tipo I. El síndrome de Bruck es un trastorno recesivo con contracturas congénitas y fragilidad ósea que fenotípicamente se parece a la osteogénesis imperfecta pero que el defecto se encuentra en ciertas regiones del cromosoma 3 y 17. Presentamos el caso de una paciente que realizó 3 interrupciones voluntarias del embarazo por fetos afectos de un síndrome caracterizado por fracturas patológicas intraútero. La necropsia del feto del tercer embarazo y los estudios genéticos realizados en tejido fetal y sangre de los padres, condujeron al diagnóstico de un síndrome de Bruck, lo que permitirá a la pareja la posibilidad de una futura gestación libre de enfermedad (AU)

Imperfect osteogenesis is a dominant autosomal genetic disease, which produce a defect in collagen formation, that results in degrees of weakness and bone fragility. For years, a number of syndromes were classified as types of imperfect osteogenesis, but it was found that despite it had a similar phenotype, they are caused by mutations in the genes of procollagen type I. Bruck syndrome is a recessive disorder with congenital contractures and bone fragility that phenotypically resembles imperfect osteogenesis, but that defect is found in certain regions of chromosome 3 and 17. We report a case of a patient who performed three abortions for fetuses suffering from a syndrome characterized by pathological fractures in utero. The autopsy of the fetus from the third pregnancy and genetic studies performed in fetal tissue and blood of parents, led to the diagnosis of Bruck syndrome, which allow the couple the possibility of future free disease gestation (AU)