Post-polio syndrome is not a dysimmune condition.

BACKGROUND: Poliomyelitis is a global disabling disease affecting 12-20 million of people. Post poliomyelitis syndrome (PPS) may affect up to 80% of polio survivors: increased muscle weakness, pain, fatigue, functional decline. It relies on aging of an impaired neuro-muscular system with ongoing denervation processes. A late involvement of humoral or cellular pro-inflammatory phenomena is also suspected. AIM: To assess the dysimmune hypothesis of PPS by comparing lymphocyte subpopulations and humoral immune factors between PPS patients and controls. DESIGN: Cross-sectional study. SETTING: Montpellier University Hospital. POPULATION: Forty-seven PPS and 27 healthy controls. METHODS: PPS patients and controls were compared on their lymphocyte subpopulations and humoral immune factors (IL-1ß, IL-6, IL-8, IL-17, IL-21, IL-22, IL-23, IFN-γ, TNF-α, GM-CSF, RANTES, MCP1, MIP-3a, IL-10, TGF-ß, IL4, IL13). Patients were further compared according to their dominant clinical symptoms. Sample size guaranteed a power >90% for all comparisons. RESULTS: PPS patients and controls were comparable in gender, age and corpulence. Most patients had lower limb motor sequelae (N.=45, 95.7%), a minority had upper limb motor impairment (N.=16, 34.0%). Forty-five were able to walk (94%), 35/45 with technical aids. The median of the two-minute walking test was 110 meters (interquartile range 55; 132). Eighteen (38%) required help in their daily life. Their quality of life was low (SF36). All described an increased muscular weakness, 40 (85%) a general fatigue, and 39 (83%) muscular or joint pain. Blood count, serum electrolytes, T and B lymphocyte subpopulations and cytokines were comparable between patients and controls, except for creatine phospho kinase that was significantly higher in PPS patients. None of these variables differed between the 20/47 patients whose late main symptoms were pain or fatigue, and other patients. CONCLUSIONS: Our results suggest that PPS is not a dysimmune disease. CLINICAL REHABILITATION IMPACT: Our results do not sustain immunotherapy for PPS. Our work suggest that PPS may be mostly linked to physiological age-related phenomena in a disabled neuromuscular condition. Thus, our results emphasize the role of prevention and elimination of aggravating factors to avoid late functional worsening, and the importance of rehabilitation programs that should be adapted to patients' specific conditions.

STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.

Calcium signaling plays a central role in bone development and homeostasis. Store operated calcium entry (SOCE) is an important calcium influx pathway mediated by calcium release activated calcium (CRAC) channels in the plasma membrane. Stromal interaction molecule 1 (STIM1) is an endoplasmic reticulum calcium sensing protein important for SOCE. We generated a mouse model expressing the STIM1 R304W mutation, causing Stormorken syndrome in humans. Stim1R304W/R304W mice showed perinatal lethality, and the only three animals that survived into adulthood presented with reduced growth, low body weight, and thoracic kyphosis. Radiographs revealed a reduced number of ribs in the Stim1R304W/R304W mice. Microcomputed tomography data revealed decreased cortical bone thickness and increased trabecular bone volume fraction in Stim1R304W/R304W mice, which had thinner and more compact bone compared to wild type mice. The Stim1R304W/+ mice showed an intermediate phenotype. Histological analyses showed that the Stim1R304W/R304W mice had abnormal bone architecture, with markedly increased number of trabeculae and reduced bone marrow cavity. Homozygous mice showed STIM1 positive osteocytes and osteoblasts. These findings highlight the critical role of the gain-of-function (GoF) STIM1 R304W protein in skeletal development and homeostasis in mice. Furthermore, the novel feature of bilateral subgingival hair growth on the lower incisors in the Stim1R304W/R304W mice and 25 % of the heterozygous mice indicate that the GoF STIM1 R304W protein also induces an abnormal epithelial cell fate.

A dominant STIM1 mutation causes Stormorken syndrome.

Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families. Upon sensing Ca(2+) depletion in the endoplasmic reticulum lumen, STIM1 undergoes a conformational change enabling it to interact with and open ORAI1, a Ca(2+) release-activated Ca(2+) channel located in the plasma membrane. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. In agreement with a possible gain-of-function mutation in STIM1, blood platelets from patients were in a preactivated state with high exposure of aminophospholipids on the outer surface of the plasma membrane. Resting Ca(2+) levels were elevated in platelets from the patients compared with controls, and store-operated Ca(2+) entry was markedly attenuated, further supporting constitutive activity of STIM1 and ORAI1. Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients. We conclude that the heterozygous mutation c.910C>T causes the complex phenotype that defines this syndrome.

Factores que pueden afectar la seguridad del paciente / Factors that may affect patient's safety

Fundamento: la seguridad del paciente es la garantía de las personas de estar libres de sufrir cualquier tipo de daño cuando interactúan con alguno de los servicios de salud. Objetivo: determinar factores que podrían afectar la seguridad del paciente a través de una investigación realizada en el Hospital Provincial y en el Hospital Pediátrico. Método: se realizó un estudio descriptivo, mediante la búsqueda de información bibliográfica sobre la temática de la seguridad del paciente, en las bases de datos disponibles en INFOMED. Para la primera etapa se diseña e implementa una encuesta de 49 preguntas que se les realiza en el año 2009 a trabajadores vinculados a la atención de salud. Para la segunda etapa se implementa una encuesta de 23 preguntas derivadas de las preguntas más relevantes de la primera etapa que se implementó en el Hospital Pediátrico y se va a realizar en el Hospital Provincial Univerrsitario Manuel Ascunce Domenech. El método analítico utilizado para ambas encuestas fue la técnica de componentes principales que permitió valorar la coincidencia de cada pregunta en relación a las posibles afectaciones a la seguridad del paciente. Resultados: la encuesta aplicada, para evaluar factores que afectan la seguridad del paciente fue adecuada. La técnica de componentes principales permitió valorar la importancia de cada pregunta en relación a las posibles afectaciones a la seguridad del paciente, las variables de respuesta se agruparon en seis constructos con un 62,1 % de varianza explicada. Las encuestas arrojaron que las afectaciones del ambiente laboral, el nivel general de interconexión y comunicación, el nivel de gestión del conocimiento, la capacidad de enfrentar imprevistos, la capacidad técnica, el cansancio y la pérdida de concentración podrían afectar la seguridad del paciente. Conclusiones: es posible obtener información in situ a partir del instrumento final obtenido en la última etapa que permita corregir de forma precoz algunas fallas que pudieran afectar la seguridad del paciente y corregirlas. La técnica de componentes principales resultó adecuada para evaluar estas respuestas en conjunto.

ABSTRACT Background: patient's safety is the guarantee of people to be free of suffering any kind of damage when interacting any of the health services. Objective: to determine factors that may affect patient's safety. Method: a descriptive study through a bibliographic review on patient's safety was conducted. The study was divided into two stages, in which surveys according to the technique of main components were implemented; this allowed value the coincidence of each question in relation to the possible impact to the patient´s safety. Results: the applied survey was appraised of adequate; response variables were grouped into six, with a 62.1 % of explained variance. The survey showed that affectations on labor atmosphere, general level of interconnection and communication, level on knowledge management, the capacity to face accidental facts, technical capacity, fatigue and loss of concentration could affect patient's safety. Conclusions: the information was obtained from the final instrument in the last stage. Some failures that could affect patient´s safety may be corrected early. The technique of main components was adequate to evaluate the answers as a whole.

Enfoque de los sistemas complejos en seguridad del paciente: [revisión] / Approach of the complex systems in the patient's safety: [review]

Para confeccionar la presente revisión se utilizaron bases de datos disponibles en INFOMED, (EBSCO, PUBMED e HINARI;) utilizando el descriptor patient safety. Se destaca el hecho de que existe abundante bibliografía actualizada en las bases de datos de INFOMED, la cual muestra tendencia internacional al uso de herramientas propias del enfoque de la complejidad tales como el incremento de las conexiones entre elementos del sistema, mejora en las tecnologías de la información y la comunicación que facilitan la interconexión entre estos elementos. La presente revisión se realiza con fines divulgativos y como base para un proyecto de investigación que se va a emprender entre el Centro de Medicina y Complejidad y el Hospital Universitario Manuel Ascunce Domenech.

To make the present review, available databases were used at INFOMED, (EBSCO, PUBMED and HINARI) using "patient safety" as descriptor. Abundant up-dated bibliography in the INFOMED databases exists, which shows international tendency to the use of typical tools of the complexity approach such as the increment of the connections among elements of the system, improvement in the technologies of the information and communication that facilitate the interconnection among these elements. The present review is carried out with publishing purposes and as basis for an investigation project that will undertake between the Medicine and Complexity Center and the University Hospital Manuel Ascunce Domenech.

Osteoartritis tuberculosa / Tuberculous osteo-arthritis

Se presentó el caso de un paciente masculino, con dolor a la movilización del codo derecho y tumefacción desde 2 meses antes, este cuadro se acompañó de fiebre vespertina ocasionalmente, pérdida de 10 libras de peso en el último mes y el antecedente de presentar tos y expectoración durante el último año. Se constataron signos inflamatorios en el codo derecho, con limitación a la flexoextensión y dolor a la palpación de los surcos retroolecraneanos. Los exámenes radiológicos fueron compatibles con una artritis séptica y los hematológicos: eritrosedimentación 92 mm/h y hemoglobina 10.0 g/L, la prueba de la tuberculina fue positiva, lo que nos orientó al diagnóstico presuntivo de tuberculosis osteoarticular, que se confirmó semanas después con el resultado del estudio bacteriológico del líquido sinovial, donde se informó la presencia del bacilo de Koch. Exámenes de laboratorio fueron negativos, se pudo demostrar el foco primario de infección activa. La respuesta al tratamiento aplicado, según el Programa Nacional de Control de la Tuberculosis Pulmonar, fue efectiva. A los 7 meses de iniciado el tratamiento el paciente fue dado de alta sin secuela