Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in presymptomatic newborns. Nevertheless, different confirmatory tests must be performed to confirm the diagnosis. In this work, we have collected and analyzed the NBS results and confirmatory test results (plasma AC, molecular findings, and lymphocyte MCAD activity) of forty individuals, correlating them with clinical outcomes and treatment, with the aim of obtaining useful diagnostic information that could be applied in the follow-up of the patients. Our results led us to classify patients into two groups. The first group (14 cases) had high increased octanoylcarnitine (C8) levels, biallelic pathogenic variants, and severe impaired enzyme activity (<10% of the intra-assay control (IAC)); all of these cases received nutritional therapy and required carnitine supplementation during follow-up, representing the most severe form of the disease. The second group (16 patients) was a heterogeneous group presenting moderate increases in C8, biallelic likely pathogenic/pathogenic variants, and intermediate activity (<41% IAC). All of them are currently asymptomatic and could be considered as having a milder form of the disease. Finally, eight cases presented a normal−mild increase in plasma C8, with only one pathogenic variant detected, and high−intermediate residual activity (15−100%). Based on our results, we confirm that combined evaluation of acylcarnitine profiles, genetic findings, and residual enzyme activities proves useful in predicting the risk of future metabolic decompensation, in making decisions regarding future treatment or follow-up, and also in confirming the clinical effects of unknown clinical variants.

Detection of alcohol use disorders using the camouflaged CAGE questionnaire in three population groups. / Detección de trastornos por uso de alcohol mediante la aplicación del cuestionario CAGE camuflado en tres grupos poblacionales.

The objective was to evaluate the risk of presenting an alcohol use disorder (AUD) in outpatient psychiatric units and compare it with drug addiction outpatient units and with healthy controls in the same administrative health area. An observational, descriptive, multicenter study was carried out in which a total of 1054 participants were evaluated. Data were obtained by means of the camouflaged CAGE questionnaire, which consists of 4 basic questions camouflaged with 8 other questions about healthy lifestyle habits. Cut-off points 1 and 2 were considered.Of the total number of participants, 588 were psychiatric outpatients, 153 outpatients from addiction centers and 313 healthy individuals. The mean age of the total sample was 45.8 years and the percentage of men was 53.2%. Of the total sample, 38.3% scored ≥1, as did 34.2% of psychiatric patients, 72.5% of drug addicts and 29.4% of healthy people. The ≥2 cut-off was reached by 26.6% of the total sample, 22.6% of psychiatric patients, 64.7% of drug addicts and 15.3% of healthy subjects. The participants with the highest percentage of ≥1 scores were men (48.8%), those younger than 30 years (50%), those with a diagnosis of alcohol use disorder (95.9%) and ADHD (83.3%).Psychiatric patients are at a higher risk of having an AUD than the healthy subjects, although lower than those who are drug addicts, and the CAGE questionnaire is a simple and useful tool to detect the risk patients have to suffer the condition under study.

El objetivo fue evaluar el riesgo de presentar un trastorno por uso de alcohol (TUA) en las consultas psiquiátricas ambulatorias y compararlo con las consultas de drogodependencias y con individuos sanos de la misma zona de salud. Se realizó un estudio observacional, descriptivo, multicéntrico, en el que fueron incluidos un total de 1054 participantes. Se utilizó el cuestionario CAGE camuflado para la obtención de los datos, que consta de 4 preguntas básicas camufladas con otras 8 preguntas sobre hábitos de vida saludables. Se consideraron los puntos de corte de 1 y 2.Del total de participantes, 588 eran pacientes psiquiátricos ambulatorios, 153 de los centros de drogodependencias ambulatorios y 313 sanos. La edad media de la muestra fue de 45,8 años y el porcentaje de hombres fue del 53,2%. El 38,3% de los participantes presentaron una puntuación ≥1, el 34,2% en las consultas psiquiátricas, el 72,5% en las de drogodependencias y el 29,4% en sanos. El 26,6% presentaron una puntuación ≥2, el 22,6% en las consultas psiquiátricas, el 64,7% en las de drogodependencias y el 15,3% en sanos. Los que presentaron mayor porcentaje de puntuación ≥1 fueron los hombres (48,8%), los menores de 30 años (50%), y los que tenían un diagnóstico de trastorno por uso de alcohol (95,9%) y de TDAH (83,3%).Los pacientes psiquiátricos presentan un mayor riesgo de presentar un TUA que los individuos sanos, aunque menor que los drogodependientes, siendo el cuestionario CAGE una herramienta sencilla y útil para detectar el riesgo de presentarlos.

Detección de trastornos por uso de alcohol mediante la aplicación del cuestionario CAGE camuflado en tres grupos poblacionales / Detection of alcohol use disorders using the camouflaged CAGE questionnaire in three population groups

El objetivo fue evaluar el riesgo de presentar un trastorno por uso de alcohol (TUA) en las consultas psiquiátricas ambulatorias y compararlo con las consultas de drogodependencias y con individuos sanos de la misma zona de salud. Se realizo un estudio observacional, descriptivo, multicéntrico, en el que fueron incluidos un total de 1054 participantes. Se utilizo el cuestionario CAGE camuflado para la obtención de los datos, que consta de 4 preguntas básicas camufladas con otras 8 preguntas sobre hábitos de vida saludables. Se consideraron los puntos de corte de 1 y 2. Del total de participantes, 588 eran pacientes psiquiátricos ambulatorios, 153 de los centros de rogodependencias ambulatorios y 313 sanos. La edad media de la muestra fue de 45,8 años y el porcentaje de hombres fue del 53,2%. El 38,3% de los participantes presentaron una puntuación ≥1, el 34,2% en las consultas psiquiátricas, el 72,5% en las de drogodependencias y el 29,4% en sanos. El 26,6% presentaron una puntuación ≥2, el 22,6% en las consultas psiquiátricas, el 64,7% en las de drogodependencias y el 15,3% en sanos. Los que presentaron mayor porcentaje de puntuación ≥1 fueron los hombres (48,8%), los menores de 30 años (50%), y los que tenían un diagnóstico de trastorno por uso de alcohol (95,9%) y de TDAH (83,3%). Los pacientes psiquiátricos presentan un mayor riesgo de presentar un TUA que los individuos sanos, aunque menor que los drogodependientes, siendo el cuestionario CAGE una herramienta sencilla y útil para detectar el riesgo de presentarlos

The objective was to evaluate the risk of presenting an alcohol use disorder (AUD) in outpatient psychiatric units and compare it with drug addiction outpatient units and with healthy controls in the same administrative health area. An observational, descriptive, multicenter study was carried out in which a total of 1054 participants were evaluated. Data were obtained by means of the camouflaged CAGE questionnaire, which consists of 4 basic questions camouflaged with 8 other questions about healthy lifestyle habits. Cut-off points 1 and 2 were considered. Of the total number of participants, 588 were psychiatric outpatients, 153 outpatients from addiction centers and 313 healthy individuals. The mean age of the total sample was 45.8 years and the percentage of men was 53.2%. Of the total sample, 38.3% scored ≥1, as did 34.2% of psychiatric patients, 72.5% of drug addicts and 29.4% of healthy people. The ≥2 cut-off was reached by 26.6% of the total sample, 22.6% of psychiatric patients, 64.7% of drug addicts and 15.3% of healthy subjects. The participants with the highest percentage of ≥1 scores were men (48.8%), those younger than 30 years (50%), those with a diagnosis of alcohol use disorder (95.9%) and ADHD (83.3%). Psychiatric patients are at a higher risk of having an AUD than the healthy subjects, although lower than those who are drug addicts, and the CAGE questionnaire is a simple and useful tool to detect the risk patients have to suffer the condition under study

Expression of CD44 in previously grafted alveolar bone / Expresión del marcador óseo CD44 en hueso alveolar previamente injertado

Objetive: To determine the expressions of the bone surface marker CD44 in samples of alveolar bone previously regenerated with allograft, xenograft, and mixed, using the technique of guided bone regeneration. Material and Methods: This exploratory study was approved by the institutional research and ethics committee. By means of intentional sampling and after obtaining informed consent for tissue donation, 20 samples of alveolar bone previously regenerated with guided bone regeneration therapy with particulate bone graft and membrane were taken during implant placement. The samples were stained with hematoxylin-eosin for histological analysis, and by immunohistochemistry for the detection of CD44. Results: Sections with hematoxylin-eosin showed bone tissue with the presence of osteoid matrix and mature bone matrix of usual appearance. Of the CD44+ samples, 80% were allograft and 20% xenograft. The samples with allograft-xenograft were negative. There were no differences in the intensity of CD44 expression between the positive samples. The marker was expressed in osteocytes, stromal cells, mononuclear infiltrate, and some histiocytes. Eighty percent of the CD44+ samples and 100% of the samples in which 60 or more cells were labelled corresponded to allografts (p=0.000). A total of 67% of the samples from the anterior sector, and 40% from the posterior sector were CD44+ (p=0.689). Conclusion: This study shows for the first time that guided bone regeneration using allografts is more efficient for the generation of mature bone determined by the expression of CD44, compared to the use of xenografts and mixed allograft-xenograft, regardless of the regenerated anatomical area.

Objetivo: Determinar la expresión del marcador de membrana óseo CD44 en muestras de hueso alveolar previamente regenerado con aloinjerto, xenoinjerto y mezcla mediante la técnica de regeneración ósea guiada. Material y Métodos: Con aval del Comité de Investigación y Ética, se realizó un estudio exploratorio. Por muestreo intencional y firma de consentimiento informado de donación, se tomaron durante la colocación del implante, 20 muestras de hueso alveolar previamente regenerado con terapia de regeneración ósea guiada con injerto óseo particulado y membrana. Las muestras fueron teñidas con hematoxilina-eosina para el análisis histológico y por inmunohistoquímica para la detección del CD44. Resultados: : Los cortes con hematoxilina-eosina mostraron tejido óseo con presencia de matriz osteoide y matriz ósea madura de aspecto usual. De las muestras CD44+, 80% fueron de aloinjerto y 20% de xenoinjerto. Las muestras con aloinjerto-xeoninjerto fueron negativas. No hubo diferencias en la intensidad de la expresión del CD44 entre las muestras positivas. El marcador se expresó en osteocitos, células estromales, infiltrado mononuclear y algunos histiocitos. El 80% de las muestras CD44+ y el 100% de las muestras con marcación de 60 o más células correspondían a aloinjertos (p=0,000). El 67% de las muestras del sector anterior y el 40% del sector posterior fueron CD44+ (p=0,689). Conclusión: Este estudio muestra por primera vez que la regeneración ósea guiada usando aloinjertos, es más eficiente para la generación de hueso maduro determinado por la expresión de CD44, comparado con el uso de xenoinjertos y mezcla de aloinjerto-xenoinjerto, independientemente del sector anatómico regenerado.

Total intravenous anesthesia in domestic chicken (Gallus gallus domesticus) with propofol alone or in combination with methadone, nalbuphine or fentanyl for ulna osteotomy.

OBJECTIVE: To compare the propofol infusion rate and cardiopulmonary effects during total intravenous anesthesia with propofol alone and propofol combined with methadone, fentanyl or nalbuphine in domestic chickens undergoing ulna osteotomy. STUDY DESIGN: Prospective, randomized, experiment trial. ANIMALS: A total of 59 healthy Hissex Brown chickens weighing 1.5 ± 0.2 kg. METHODS: Anesthesia was induced with propofol (9 mg kg-1) administered intravenously (IV) and maintained with propofol (1.2 mg kg-1 minute-1) for 30 minutes. Birds were intubated and supplemented with 100% oxygen through a nonrebreathing circuit under spontaneous ventilation. Thereafter, each animal was randomly assigned to one of four groups: group P, no treatment; group PM, methadone (6 mg kg-1) intramuscularly (IM); group PN, nalbuphine IM (12.5 mg kg-1); and group PF, fentanyl IV (30 µg kg-1 loading dose, 30 µg kg-1 hour-1 constant rate infusion). During the osteotomy surgery, the propofol infusion rate was adjusted to avoid movement of birds and provide adequate anesthesia. Pulse rate, invasive blood pressure, respiratory frequency, end-tidal carbon dioxide partial pressure (Pe'CO2) and hemoglobin oxygen saturation (SpO2) were recorded. RESULTS: Data were available from 58 chickens. The mean ± standard deviation propofol infusion rate (mg kg-1 minute-1) for the duration of anesthesia was: group P, 0.81 ± 0.15; group PM, 0.66 ± 0.11; group PN, 0.60 ± 0.14; and group PF, 0.80 ± 0.07. Significant differences were P versus PM (p = 0.042), P versus PN (p = 0.002) and PF versus PN (p = 0.004). Pulse rate, blood pressure and SpO2 remained acceptable for anesthetized birds with minor differences among groups. Values of Pe'CO2 >60 mmHg (8 kPa) were observed in all groups. CONCLUSIONS AND CLINICAL RELEVANCE: Methadone and nalbuphine, but not fentanyl, decreased the propofol infusion rate required for anesthesia maintenance, but resulted in no obvious benefit in physiological variables.

Polymerase Chain Reaction Versus Blood Culture to Detect Candida Species in High-Risk Patients with Suspected Invasive Candidiasis: The MICAFEM Study.

INTRODUCTION: We evaluated the diagnostic reliability of serum polymerase chain reaction (PCR) versus blood culture, abdominal fluid or both (composite measure) in patients receiving empirical antifungal treatment for suspected invasive candidiasis. METHODS: This observational, prospective, non-interventional, multicentre study in Spain enrolled 176 critically ill patients admitted to the intensive care unit. Separate blood samples for culture and serum PCR were taken before the start of antifungal therapy. Patient assessment was performed according to each site's usual clinical practice. The primary end point was concordance between serum PCR and blood culture. Secondary end points were concordance between serum PCR and a positive abdominal fluid sample or the composite measure. Quality indices included sensitivity, specificity, positive/negative predictive values (PPV/NPV) and kappa indices. RESULTS: Among 175 evaluable patients, rates of Candida detection were similar for serum PCR (n = 16/175, 9.1%) versus blood culture (n = 14/175, 8.0%). Quality indices for serum PCR relative to blood culture were: sensitivity 21.4%; specificity 91.9%; PPV 18.8%; NPV 93.1%; kappa index 0.125. Thirty-two abdominal fluid samples were positive. Quality indices for serum PCR versus abdominal fluid were: sensitivity 31.3%; specificity 83.0%; PPV 15.6%; NPV 92.3%; kappa index 0.100. Quality indices for serum PCR versus the composite measure were: sensitivity 15.8%; specificity 92.7%; PPV 37.5%; NPV 79.9%; kappa index 0.107. CONCLUSION: The sensitivity of serum PCR for Candida detection was low and the rate of concordance was low between serum PCR and the other diagnostic techniques used to identify Candida infections. Hospital-based diagnostic tests need optimising to improve outcomes in patients with suspected invasive candidiasis. FUNDING: Astellas Pharma Inc.

Protocolo informático de manejo integral de la sepsis. Descripción de un sistema de identificación precoz / Computerised sepsis protocol management. Description of an early warning system

Introducción: Es preciso desarrollar nuevas estrategias que permitan una identificación precoz y una inmediata instauración de medidas efectivas en el abordaje de la sepsis. La unidad multidisciplinar de sepsis (UMS) desarrolló una herramienta: el Protocolo Informático de Manejo Integral de la Sepsis (PIMIS). El objetivo de este estudio es evaluar la intervención de la UMS y la utilidad del PIMIS. Métodos: Se analizaron las intervenciones según fueran realizadas por consulta directamente solicitada (activación de PIMIS o consulta telefónica) o no solicitada (aislamientos microbiológicos y el Sistema Informático de Detección de Constantes Vitales [SIDCV]), los servicios, el tipo de infección, la recomendación de cambio de antibiótico y el grado de aceptación. Resultados: De las 1.581 consultas, el 65,1% se solicitaron directamente: un 84,1% por activación del PIMIS por el médico responsable y un 15,9% por contacto telefónico directo. Entre las consultas no solicitadas, el 95,2% procedían de microbiología y el 4,8% del SIDCV. Las consultas directamente solicitadas se realizaron más precozmente que las no solicitadas (5,63días vs. 8,47días; p<0,001) y la frecuencia fue mayor en los servicios médicos frente a los quirúrgicos (73,0% vs. 39,1%; p<0,001). Se recomendó un cambio de antibiótico en el 32% de las primeras consultas y se aceptó en el 78,1% de los casos. Conclusiones: La elevada proporción de consultas directamente solicitadas y aceptación de las recomendaciones demuestra que la intervención de la UMS es valorada y respetada. El PIMIS es el principal mecanismo de consulta, lo que lo convierte en una herramienta útil y conveniente para la identificación precoz y el abordaje de la sepsis (AU)

Introduction: New strategies need to be developed for the early recognition and rapid response for the management of sepsis. To achieve this purpose, the Multidisciplinary Sepsis Team (MST) developed the Computerised Sepsis Protocol Management (PIMIS). The aim of this study was to evaluate the convenience of using PIMIS, as well as the activity of the MST. Methods: An analysis was performed on the data collected from solicited MST consultations (direct activation of PIMIS by attending physician or telephone request) and unsolicited ones (by referral from the microbiology laboratory or an automatic referral via the hospital vital signs recording software [SIDCV]), as well as the hospital department, source of infection, treatment recommendation, and acceptance of this. Results: Of the 1,581 first consultations, 65.1% were solicited consultations (84.1% activation of PIMIS and 15.9% by telephone). The majority of unsolicited consultations were generated by the microbiology laboratory (95.2%), and 4.8% from the SIDCV. Referral from solicited consultations were generated sooner (5.63days vs 8.47days; P<.001) and came from clinical specialties rather than from the surgical ward (73.0% vs 39.1%; P<.001). A recommendation was made for antimicrobial prescription change in 32% of first consultations. The treating physician accepted 78.1% of recommendations. Conclusions: The high rate of solicited consultations and acceptance of recommended prescription changes suggest that a MST is seen as a helpful resource, and that PIMIS software is perceived to be useful and convenient to use, as it is the main source of referral (AU)

Computerised sepsis protocol management. Description of an early warning system. / Protocolo informático de manejo integral de la sepsis. Descripción de un sistema de identificación precoz.

INTRODUCTION: New strategies need to be developed for the early recognition and rapid response for the management of sepsis. To achieve this purpose, the Multidisciplinary Sepsis Team (MST) developed the Computerised Sepsis Protocol Management (PIMIS). The aim of this study was to evaluate the convenience of using PIMIS, as well as the activity of the MST. METHODS: An analysis was performed on the data collected from solicited MST consultations (direct activation of PIMIS by attending physician or telephone request) and unsolicited ones (by referral from the microbiology laboratory or an automatic referral via the hospital vital signs recording software [SIDCV]), as well as the hospital department, source of infection, treatment recommendation, and acceptance of this. RESULTS: Of the 1,581 first consultations, 65.1% were solicited consultations (84.1% activation of PIMIS and 15.9% by telephone). The majority of unsolicited consultations were generated by the microbiology laboratory (95.2%), and 4.8% from the SIDCV. Referral from solicited consultations were generated sooner (5.63days vs 8.47days; P<.001) and came from clinical specialties rather than from the surgical ward (73.0% vs 39.1%; P<.001). A recommendation was made for antimicrobial prescription change in 32% of first consultations. The treating physician accepted 78.1% of recommendations. CONCLUSIONS: The high rate of solicited consultations and acceptance of recommended prescription changes suggest that a MST is seen as a helpful resource, and that PIMIS software is perceived to be useful and convenient to use, as it is the main source of referral.

Becoming Baby-Friendly and Transforming Maternity Care in a Safety-Net Hospital on the Texas-Mexico Border.

Nurse leaders used the Centers for Disease Control and Prevention's survey on Maternity Practices in Infant Nutrition and Care, as well as Baby-Friendly Hospital Initiative guidelines, to transform maternity care in a safety-net hospital with more than 3,500 births annually. Implementing evidence-based guidelines to support breastfeeding was essential for a vulnerable population characterized by minimal prenatal care and high rates of diabetes, hypertension, obesity, and poverty. Research showing the importance of breastfeeding in protecting against these factors guided extensive changes in our maternity care model. The nursing and medical teams changed long-held practices that separated women from their newborns and observed substantial improvements in breastfeeding initiation and exclusive breastfeeding rates at discharge.

Retinal nerve fiber layer and macular thickness in patients with schizophrenia: Influence of recent illness episodes.

Optical coherence tomography (OCT) has been recently used to investigate neuropsychiatric disorders. We aimed to study retinal OCT measures of patients with schizophrenia with respect to healthy controls, and to evaluate possible differences between recent illness episode (RIE) and non-recent illness episode (NRIE) patients. Thirty schizophrenia patients were classified as RIE (n=10) or NRIE (n=20), and compared with 30 matched controls. Statistical analyses included linear mixed-effects models to study the association between OCT measures and group membership. Multivariate models were used to control for potential confounders. In the adjusted linear mixed-effects regression model, patients had a significantly thinner retinal nerve fiber layer (RNFL) in overall measurements, and in the nasal, superior and inferior quadrants. Macular inner ring thickness and macular volume were also significantly smaller in patients than controls. Compared with controls, in the adjusted model only NRIE (but not RIE) patients had significantly reduced RNFL overall measures, superior RNFL, nasal RNFL, macular volume, and macular inner ring thickness. No significant correlation was found between illness duration and retinal measurements after controlling for age. In conclusion, retinal parameters observed using OCT in schizophrenia patients could be related to clinical status and merit attention as potential state biomarkers of the disorder.

Optimización del diagnóstico de infección de vías urinarias: detección fotométrica de piuria y bacteriuria / Optimization of infection tract urinary diagnosis

Marco Teórico: Para apoyar el diagnóstico de infección de vías urinarias, en la última década Vytek Systems, Missouri USA desarrolló un analizador semiautomatizado (BACT-T-SCREEN), el cual realiza una prueba fotométrica cualitativa para la detección de bacterias y leucocitos la cual hemos modificado desde el punto de vista analítico al considerar cuantitativamente la absorción diferencial (delta=absorción problema-absorción calibración) empleando curvas de operación relativa(COR). Objetivo: Evaluar la confiabilidad (eficacia) de nuestro procedimiento y la aplicabilidad del instrumento (eficiencia) en la rutina de trabajo del Laboratorio de Microbiología del HABC. Tipo de estudio: Clínico, prospectivo, experimental, analítico, comparativo. Realizado en la rutina de trabajo del laboratorio de microbiología durante el primer trimestre de 1994. Resultados: En 220 cultivos hubo un 23 por ciento con desarrollo. Existió un predominio de Gramm negativos en 85 por ciento, E. coli en 60 por ciento, levaduras en 6 por ciento. Al correlacionar la absorción diferencial (delta) del fotómetro Bact-T-Screen con el número de colonias aisladas en el cultivo se obtuvo un coeficiente de correlación del 0.93 y se encontró que una delta de 20 equivale a 100,000 unidades formadoras de colonias por mililitro (UFC/mL). En base al Teorema de Bayes aplicando curvas de operación relativa(COR) se demostró que la delta con mayor eficacia es la de 15 unidades con un Valor Predictivo Positivo del 90 por ciento ya que de esta manera se elimina el 72 por ciento de los cultivos. Conclusiones: El analizador representa un avance significativo en el manejo de infección urinaria al lograr establecer un diagnóstico confiable, oportuno y económico en menos de una hora