The ß-glucosidase assay: a new diagnostic tool for necrotizing enterocolitis. Sensitivity, specificity, and predictive values.

UNLABELLED: We aimed to establish the utility of serum cytosolic ß-glycosidase (CBG) assay as a NEC diagnosis tool. CBG activity has been compared in 192 NEC-free (NEC(-)) and 13 NEC-affected (NEC(+)) neonates, with modified Bell's stages II/III, born at Reina Sofia University Hospital; additional blood hematology, microbiology, and biochemical parameters have been assayed. NEC(+) neonates have higher serum CBG activity, 26.4 ± 12.4 mU/mg; 95 % CI (18.8-33.9), than NEC(-) infants, 11.0 ± 6.6 mU/mg; 95 % CI (10.1-11.9) (p < 0.0001). The CBG cutoff value in the ROC curve, 15.6 mU/mg, discriminates NEC(+)/NEC(-) infants with 84.6 % sensitivity, 85.9 % specificity, 37.9 positive predictive value and 98.2 negative predictive value, 6.11 positive likelihood ratio and 0.18 negative likelihood ratio, 33.61 DOR, and 0.89 AUC. A combined panel [CBG + aspartate aminotransferase + C-reactive protein] shows a 0.90 AUC value in multiple linear regressions. CONCLUSIONS: The serum CBG level is a good NEC diagnosis test and a novel NEC biomarker which may become a screening tool. WHAT IS KNOWN: •NEC affects ∼2.5 % of infants at NICU, ∼90 % of them weighing <1500 g. •NEC requires a careful differential diagnosis, being lethal if not diagnosed and treated. What is new: •CBG assay will be useful to determine infants without NEC and preventing unnecessary treatment. •CBG assay could discriminate NEC better than other gut-specific sera protein biomarkers.

Low serum 25-hydroxyvitamin D levels and bronchiolitis severity in Spanish infants.

UNLABELLED: This cross-sectional study was performed to examine the prevalence of hypovitaminosis D in infants with acute bronchiolitis compared with control subjects and to evaluate the relationship between serum 25-hydroxyvitamin D (25(OH) D) and the severity of bronchiolitis. Serum 25(OH) D levels were measured by radioimmunoassay in 48 infants with acute bronchiolitis (2.5 ± 2.0 months) and in 30 healthy infants (3.2 ± 2.3 months). 25(OH) D levels (ng/ml) in children with acute bronchiolitis were significantly lower than in the control group (median 29.9 ng/ml (interquartile range (IQR) 21.4-37.5) versus median 38.2 ng/ml ((IQR 26.1-48.1), p = 0.022), mainly in infants with moderate-severe bronchiolitis (median 29.8 ng/ml, IQR 19.2-35.9). The prevalence of hypovitaminosis D was remarkably greater among infants with bronchiolitis than in control subjects (52.1 versus 26.6%). A significant inverse correlation was found between serum 25-hydroxyvitamin D levels and disease severity (rho = -0.457, p < 0.001). CONCLUSION: The prevalence of hypovitaminosis D is high in Spanish infants with bronchiolitis. The severity of acute bronchiolitis increases with a decline in serum 25 (OH) D level.

[Concept maps as a tool for the diagnosis of rare diseases]. / Mapas conceptuales para el diagnóstico de enfermedades raras en atención primaria.

Rare diseases are a real public health problem for hospitals and also for primary care. We describe some metaphor-based diagnosis procedures, such as: "When you hear hoof beats don't always think horses, sometimes they could be zebras", or that one about the antiquarian who recognised a museum masterpiece while walking in the Rastro (Madrid). The "lightning diagnoses" by Skoda are an important historic record. T. Greenhalgh has tried to cover the gap between evidence based medicine and the intuitive diagnosis. We point out some clinical epidemiology rules in order to improve their early detection by family practitioners and paediatricians. In our opinion, the training in the diagnosis of rare diseases has to be different for primary care level and for hospital doctors. Concept maps are useful for diagnosis in primary care clinics.

[Variation in protein expression depending on the severity of sleep apnoea-hypopnoea syndrome]. / Variación de la expresión proteica en función de la gravedad del síndrome de apnea-hipopnea del sueño.

OBJECTIVE: A prospective study with a consecutive sample and a control group to determine whether protein expression in patients with sleep apnoea-hypopnoea syndrome (SAHS) is different from that of the control group (IAH < or =5). PATIENTS AND METHODS: A total of 32 patients aged between 35 and 60 years who had a polysomnograph performed were included. Patients with an acute or chronic were excluded. The first dimension of the proteomic study was carried out on IPG strips (18cm, pH 4-7) and the second on SDS-PAGE gels in triplicate for each group. The gels were stained with SYPRO-Ruby (Bio-Rad((R))), the images obtained with an FX-Imager laser scanner and the spots were analysed using ProteomWeaver v. 4.0 (Bio-Rad((R))) software. Significant changes between the gels were analysed by replicates and separately, being considered a significant change if the relative intensity of the spots was three times higher or lower than that of the control and if it was observed in 2 of the 3 replicates of each group, with a coefficient of variation of <20%. RESULTS: The patients were divided into 8 subjects per group (control, mild, moderate and severe). The comparison of the gels showed significant differences between the control group and the 3 clinical groups, with significant over-expression being observed in 3 spots, and under-expression in 7 spots in the control group. CONCLUSION: There are significant changes in protein expression between a control group and patients in different stages of disease. The proteomic study can identify biomarkers associated with the diagnosis and severity of the SAHS.

Mapas conceptuales para el diagnóstico de enfermedades raras en atención primaria / Concept maps as a tool for the diagnosis of rare diseases

Las enfermedades raras (ER) constituyen un verdadero problema de salud pública tanto en atención primaria como en atención hospitalaria. Revisamos someramente los mecanismos generadores de hipótesis diagnósticas basándonos en metáforas como «el ruido de cascos no siempre significa que vengan caballos, a veces son cebras las que se acercan» o aquella otra del anticuario que reconoce una pieza de museo paseando por «El Rastro». Los «Blitzdiagnosen» (diagnósticos relámpago) de Skoda son un antecedente histórico importante. Es muy sensata la aspiración de la profesora Greenhalgh de unir la medicina basada en la evidencia y el diagnóstico intuitivo. Exponemos también unas reglas de epidemiología clínica que ayudarán al médico de familia/pediatra a afianzarse en este campo. La formación ha de ser específica en sus contenidos y diferenciada para profesionales de hospital y de centros de salud. Es necesario el conocimiento de los signos patognomónicos clásicos. Los mapas conceptuales son útiles para el diagnóstico de ER en atención primaria(AU)

Rare diseases are a real public health problem for hospitals and also for primary care. We describe some metaphor-based diagnosis procedures, such as: "When you hear hoof beats don't always think horses, sometimes they could be zebras", or that one about the antiquarian who recognised a museum masterpiece while walking in the Rastro (Madrid). The "lightning diagnoses" by Skoda are an important historic record.T. Greenhalgh has tried to cover the gap between evidence based medicine and the intuitive diagnosis. We point out some clinical epidemiology rules in order to improve their early detection by family practitioners and paediatricians. In our opinion, the training in the diagnosis of rare diseases has to be different for primary care level and for hospital doctors. Concept maps are useful for diagnosis in primary care clinics(AU)

Variación de la expresión proteica en función de la gravedad del síndrome de apnea-hipopnea del sueño / Variation in Protein Expression Depending on the Severity of Sleep Apnoea-Hypopnoea Syndrome

ObjetivoEstudio prospectivo con muestreo consecutivo y grupo control para determinar si la expresión proteica en pacientes con SAHS es diferente a la de un grupo control (IAH ≤5).Pacientes y métodosFueron incluidos 32 pacientes, entre 35 y 60 años, a los que se les realizó una polisomnografía. Fueron excluidos los sujetos con enfermedad aguda o crónica. La primera dimensión del estudio proteómico se realizó en tiras IPG (18cm, pH 4–7) y, la segunda, en geles SDS-PAGE por triplicado para cada grupo. Los geles se tiñeron con SYPRO-Ruby (Bio-Rad®), se obtuvieron las imágenes con un escáner láser FX-Imager, y el análisis de los spots se realizó con el software ProteomWeaver v4.0 (Bio-Rad®). Se analizaron los cambios significativos entre los geles agrupados por réplicas y por separado, considerándose un cambio significativo si la intensidad relativa en los spots fue superior o inferior en 3 veces a la del control y se observó en 2 de las 3 réplicas de cada grupo con un coeficiente de variación <20%.ResultadosLos pacientes fueron divididos en 8 sujetos por grupo (control, leve, moderado y grave). La comparación de los geles constató diferencias significativas entre el grupo control y los 3 grupos clínicos, observándose 3 spots con sobreexpresión significativa y 7 spots subexpresados respecto al grupo control.ConclusiónExisten cambios significativos en la expresión protéica entre un grupo control y pacientes en distintos estadios de enfermedad. El estudio proteómico puede identificar biomarcadores relacionados con el diagnóstico y gravedad del SAHS(AU)

ObjectiveA prospective study with a consecutive sample and a control group to determine whether protein expression in patients with sleep apnoea-hypopnoea syndrome (SAHS) is different from that of the control group (IAH ≤5).Patients and methodsA total of 32 patients aged between 35 and 60 years who had a polysomnograph performed were included. Patients with an acute or chronic were excluded. The first dimension of the proteomic study was carried out on IPG strips (18cm, pH 4–7) and the second on SDS-PAGE gels in triplicate for each group. The gels were stained with SYPRO-Ruby (Bio-Rad®), the images obtained with an FX-Imager laser scanner and the spots were analysed using ProteomWeaver v. 4.0 (Bio-Rad®) software. Significant changes between the gels were analysed by replicates and separately, being considered a significant change if the relative intensity of the spots was three times higher or lower than that of the control and if it was observed in 2 of the 3 replicates of each group, with a coefficient of variation of <20%.ResultsThe patients were divided into 8 subjects per group (control, mild, moderate and severe). The comparison of the gels showed significant differences between the control group and the 3 clinical groups, with significant over-expression being observed in 3 spots, and under-expression in 7 spots in the control group.ConclusionThere are significant changes in protein expression between a control group and patients in different stages of disease. The proteomic study can identify biomarkers associated with the diagnosis and severity of the SAHS(AU)

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