Inter-rater reliability assessment for the new-born screening quality assurance.

Introduction: To ensure the quality of the new-born screening (NBS), our laboratory reviewed the analytical procedure to detect subjective steps that may represent a risk to the patient. Two subjective activities were identified in the extra-analytical phases: the classification of dried blood spots (DBS) according to their quality and the assignment of haemoglobin patterns. To keep these activities under control, inter-rater studies were implemented. This study aimed to evaluate the inter-rater reliability and the effectiveness of the measures taken to improve the agreement between observers, to assure NBS results' quality. Materials and methods: Dried blood spots specimens were used for the inter-rater studies. Ten studies were performed to assess DBS quality classification, and four to assess the assignment of haemoglobin patterns. Krippendorff's alpha test was used to estimate inter-rater reliability. Causes were investigated when alpha values were below 0.80. Results: For both activities, the reliability obtained in the first studies was inadequate. After investigation, we detected that the criterion to classify a DBS as scant was not consolidated, and also a lack of consensus on whether or not to report Bart's haemoglobin depending on its percentage. Alpha estimates became higher once the training was reinforced and a consensus about the appropriate criteria to be applied was reached. Conclusion: Inter-rater reliability assessment helped us to ensure the quality of subjective activities that could add variability to NBS results. Furthermore, the evolution of the alpha value over time allowed us to verify the effectiveness of the measures adopted.

Evolución y resultados del tratamiento neoadyuvante en cáncer de mama durante un periodo de 10 años / Progress and oncological outcome of neoadjuvant therapy in breast cancer patients during a 10-year period

Introducción: el cáncer de mama es la neoplasia más frecuente en mujeres españolas. Los continuos avances en su tratamiento han contribuido a mejorar de forma progresiva la supervivencia en estadios precoces. Entre los avances durante los últimos años, hay que destacar el tratamiento neoadyuvante.Material y métodoshemos valorado la evolución temporal de las indicaciones y los resultados del tratamiento neoadyuvante del cáncer de mama durante un periodo de 10 años. Para ello, se han analizado las características clínicas, la respuesta completa patológica (RCp), la supervivencia global (SG) y libre de progresión (SLP) de todos los pacientes con cáncer de mama tratados con neoadyuvancia entre el 1 de enero de 2007 y el 31 de diciembre de 2016.Resultadosse han tratado 212 pacientes con cáncer de mama. A lo largo de los 10 años hemos observado un progresivo aumento en el número de pacientes tratadas con neoadyuvancia, en la edad de los pacientes incluidos (p < 0,001), en los casos de menopausia (p = 0,029), de casos triple negativo y HER2 positivo. También, hemos observado un aumento en el número de casos en los que se ha realizado cirugía conservadora y biopsia selectiva del ganglio centinela.Conclusionesel tratamiento neoadyuvante se utiliza cada vez más en las pacientes con cáncer de mama, sobre todo en los subtipos de mal pronóstico (triple negativo y HER2). La incorporación de nuevos fármacos y el tratamiento de estadios más precoces está contribuyendo a la mejora de las tasas de RCp y las cirugías conservadoras. (AU)

Introduction: Breast cancer is the most frequent tumor in Spanish women. Continuous advances in the treatment of this neoplasm, have contributed to progressively improve survival in early stages. In the last years, neoadjuvant treatment has evolved and changes have occurred in the treatment indication and in the results.Material and methodsWe have assessed the temporal evolution of indications and results of neoadjuvant therapy in breast cancer over a 10-year period. We have analyzed the clinical characteristics, the complete pathological response (CRp), overall survival (OS) and progression-free survival (PFS) of all patients with breast cancer treated with neoadjuvant therapy between January 1st 2007 and December 31st 2016.ResultsDuring the study period, 212 patients were treated.  Throughout the 10-year period, we observed that increasingly older patients had been treated (p < 0.001), a greater number of menopausal patients (p = 0.029), a greater number of triple negative and HER2 positive cases. In addition, a larger number of conservative surgeries and sentinel lymph node biopsies had been performed.ConclusionsNeoadjuvant therapy is increasing in patients with breast cancer, especially in subtypes with poor prognosis (triple negative and HER2). The emerging new drugs and treatment in earlier stages has increased the rate of pCR and breast conserving surgery. (AU)

Clinical efficacy of urea treatment in syndrome of inappropriate antidiuretic hormone secretion.

The aim of this work is to examine our experience in the use of urea in patients with SIADH. Observational retrospective analysis of 48 patients with SIADH that have been treated with urea in a third-level hospital. Pre-post analysis of serum sodium levels. The 48 patients with SIADH had a median age of 78.5 (range 26-97 years). The serum sodium nadir was 119.8 ± 5.0 mmoL/L and at the beginning of treatment 125.6 ± 4.1 mmoL/L. The patients continued the treatment for a mean time of 2.95 ± 6.29 months, being the treatment still active in 4 patients. In all patients there was an improvement in serum sodium, being the final serum sodium at the end of treatment 134.4 ± 4.9 mmoL/L (p < 0.01). This improvement was observed from the first week. Adverse events were only detected in 2 patients with mild digestive symptomatology and 2 patients refused the treatment due to the low palatability of the urea. There was an economic cost reduction of 87.9% in comparison with treatment with tolvaptan. Urea has shown to be a safe and cost-effective option for the treatment of hyponatremia caused by SIADH.

Diagnóstico de la higiene bucal en pacientes con aparatos de ortodoncia / Diagnosis of oral hygiene in patients with orthodontic appliances

RESUMEN Fundamento: una adecuada higiene bucal es necesaria en los pacientes que portan aparatos de ortodoncia. Objetivo: identificar conocimientos, actitudes, prácticas e higiene bucal en pacientes con aparatos de ortodoncia. Métodos: se realizó un estudio con diseño no experimental, descriptivo y transversal en la Clínica Estomatológica Docente Provincial de Sancti Spíritus en el período entre septiembre de 2018 y julio de 2019. Se utilizaron métodos del nivel teórico, empírico (encuesta, entrevista, observación y estadístico). La población estuvo constituida por 30 pacientes de esta institución con tratamiento de ortodoncia. Se midieron las variables: edad y sexo del paciente, tipo de aparato de ortodoncia, nivel de conocimiento sobre salud bucodental, actitud y prácticas del paciente de higiene bucal, frecuencia, forma y eficiencia del cepillado dental, así como el cepillado o no después de la ingestión de alimentos azucarados. Resultados: el 100 % de los pacientes presentó conocimientos deficientes sobre salud bucal y prácticas desfavorables, aunque se constató actitudes favorables en el 63,3 % de los pacientes. Predominó una higiene bucal regular en la población estudiada antes de iniciar el tratamiento y después de instalar los aparatos, de manera similar en los grupos con aparatos removibles, funcionales y fijos. Conclusiones: los pacientes de la población estudiada necesitan educación para apropiarse de conocimientos suficientes para mantener actitudes, prácticas e higiene bucal saludables.

ABSTRACT Background: adequate oral hygiene is necessary in patients who wear orthodontic appliances. Objective: to identify knowledge, attitudes, practices and oral hygiene in patients with orthodontic appliances. Methods: a study with a non-experimental, descriptive and cross-sectional design was carried out in the Provincial Teaching Dentistry Clinic of Sancti Spíritus in the period between September 2018 and July 2019. Methods from the theoretical, empirical (survey, interview and observation) and statistical level were used. The population consisted of 30 patients from this institution with orthodontic treatment. The measured variables were: age and sex of the patient, type of orthodontic appliance, level of knowledge about oral health, attitude and oral hygiene practices of the patient, frequency, form and efficiency of tooth brushing, as well as brushing or not after the ingestion of sugary foods. Results: 100% of the patients presented poor knowledge about oral health and unfavorable practices, although favorable attitudes were found in 63.3% of the patients. Regular oral hygiene predominated in the population studied before starting treatment and after installing the appliances, similarly in the groups with removable, functional and fixed appliances. Conclusions: the studied population patients need education to acquire sufficient knowledge to maintain healthy attitudes, practices and oral hygiene.

Diagnóstico de la higiene bucal en pacientes con aparatos de ortodoncia / Diagnosis of oral hygiene in patients with orthodontic appliances

Fundamento: una adecuada higiene bucal es necesaria en los pacientes que portan aparatos de ortodoncia. Objetivo: identificar conocimientos, actitudes, prácticas e higiene bucal en pacientes con aparatos de ortodoncia. Métodos: se realizó un estudio con diseño no experimental, descriptivo y transversal en la Clínica Estomatológica Docente Provincial de Sancti Spíritus en el período entre septiembre de 2018 y julio de 2019. Se utilizaron métodos del nivel teórico, empírico (encuesta, entrevista, observación y estadístico). La población estuvo constituida por 30 pacientes de esta institución con tratamiento de ortodoncia. Se midieron las variables: edad y sexo del paciente, tipo de aparato de ortodoncia, nivel de conocimiento sobre salud bucodental, actitud y prácticas del paciente de higiene bucal, frecuencia, forma y eficiencia del cepillado dental, así como el cepillado o no después de la ingestión de alimentos azucarados. Resultados: el 100 porciento de los pacientes presentó conocimientos deficientes sobre salud bucal y prácticas desfavorables, aunque se constató actitudes favorables en el 63,3 porciento de los pacientes. Predominó una higiene bucal regular en la población estudiada antes de iniciar el tratamiento y después de instalar los aparatos, de manera similar en los grupos con aparatos removibles, funcionales y fijos. Conclusiones: los pacientes de la población estudiada necesitan educación para apropiarse de conocimientos suficientes para mantener actitudes, prácticas e higiene bucal saludables (AU)

Background: adequate oral hygiene is necessary in patients who wear orthodontic appliances. Objective:to identify knowledge, attitudes, practices and oral hygiene in patients with orthodontic appliances. Methods: a study with a non-experimental, descriptive and cross-sectional design was carried out in the Provincial Teaching Dentistry Clinic of Sancti Spíritus in the period between September 2018 and July 2019. Methods from the theoretical, empirical (survey, interview and observation) and statistical level were used. The population consisted of 30 patients from this institution with orthodontic treatment. The measured variables were: age and sex of the patient, type of orthodontic appliance, level of knowledge about oral health, attitude and oral hygiene practices of the patient, frequency, form and efficiency of tooth brushing, as well as brushing or not after the ingestion of sugary foods. Results: 100 percent of the patients presented poor knowledge about oral health and unfavorable practices, although favorable attitudes were found in 63.3 percent of the patients. Regular oral hygiene predominated in the population studied before starting treatment and after installing the appliances, similarly in the groups with removable, functional and fixed appliances. Conclusions:the studied population patients need education to acquire sufficient knowledge to maintain healthy attitudes, practices and oral hygiene (AU)

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

BACKGROUND: Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most of the neonatal cases with acquired vitamin B12 deficiency have been detected by clinical symptoms and only few of them trough NBS programs. We aim to assess the usefulness of the second-tier test: methylmalonic acid (MMA), methylcitric acid (MCA) and homocysteine (Hcys) in our newborn screening program and explore the implications on the detection of cobalamin (vitamin B12) related disorders, both genetic and acquired conditions. METHODS: A screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated. RESULTS: During the period 2015-2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B12 deficiency (incidence 1:1989), 19 with genetic disorders (incidence 1:13,613) and 13 were false positive. No false negatives were notified. Concerning the second-tier test, the percentage of cases with MMA above the cut-off levels, both for genetic and acquired conditions was very similar (58% and 60%, respectively). Interestingly, the percentage of cases with increased levels of Hcys was higher in acquired conditions than in genetic disorders (87% and 47%, respectively). In contrast, MCA was high only in 5% of the acquired conditions versus in 53% of the genetic disorders, and it was always very high in all patients with propionic acidemia. CONCLUSIONS: When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B12 deficiency should be done. The results of our strategy support the inclusion of this acquired condition in the NBS programs, as it is easily detectable and allows the adoption of corrective measures to avoid the consequences of its deficiency.

Prevalencia de periodontitis crónica moderada y avanzada generalizada como factor de riesgo cardiovascular / Prevalence of chronic periodontitis moderate and advanced generalized as a cardiovascular risk factor

Introducción: La periodontitis es una enfermedad infecciosa que afecta a los tejidos de sostén de los dientes, su prevalencia se estima entre el 35 y 45% de la población adulta. Las enfermedades cardiovasculares tienen relación directa con la periodontitis crónica, las bacterias periodontales pueden pasar la barrera epitelial de los tejidos periodontales y lograr la propagación sistémica a través de los vasos sanguíneos, causando la inflamación del endocardio. Objetivo: Determinar prevalencia de enfermedad periodontal como factor de riesgo cardiovascular en adultos de 25 a 60 años en Nacajuca, Tabasco. Material y métodos: Se realizó un estudió observacional, prospectivo, transversal y analítico, con muestra de 40 participantes entre 25 y 60 años, el 52% (21) son hombres y el 49% (19) mujeres, se empleó el sistema no probabilístico por conveniencia. Las variables fueron edad, género, grado de conocimiento sobre enfermedad periodontal, nivel de alimentación, grado de tabaquismo, grado de higiene bucal y grado de periodontitis. Resultado: La prevalencia de enfermedad periodontal como factor de riesgo cardiovascular es 48% (19 personas) con periodontitis crónica moderada y avanzada generalizada. Conclusión: Con base en la revisión bibliográfica, las personas con el grado de periodontitis crónica moderada y avanzada generalizada son propensas a desencadenar una enfermedad cardiovascular (infarto agudo de miocardio). Sin embargo, son necesarios más estudios de experimentación longitudinal, con base en el vínculo que tiene la enfermedad periodontal y cardiovascular (AU)

Introduction: Periodontitis is an infectious disease that affects the tissue of the teeth, its prevalence is estimated between 35 and 45% of the adult population. Cardiovascular diseases are directly related to chronic periodontitis, periodontal bacteria can pass the epithelial barrier of periodontal tissues and achieve systemic propagation through the blood vessels causing Inflammation of the endocardio. Objective: To determine the prevalence of periodontal disease as a cardiovascular risk factor in adults from 25 to 60 years Nacajuca, Tabasco. Material and methods: An observational, prospective, transverse and analytical study was carried out, with a sample of 40 participants between 25 and 60 years, 52% (21) corresponds to the masculine genus and 49% (19) represents the female genus, the non-probabilistic system was employed by Convenience. The variables were age, gender, degree of knowledge on periodontal disease, feeding level, degree of smoking, degree of oral hygiene and degree of periodontitis. Result: the prevalence of periodontal disease as a cardiovascular risk factor is 48% (19 people) with chronically moderate and advanced generalized periodontitis. Conclusion: Based on the bibliographical review people with the degree of chronic periodontitis moderate and advanced generalized are prone to trigger a cardiovascular disease (acute myocardial infarction). However, more studies of longitudinal experimentation are necessary, based on the link which has the periodontal and cardiovascular disease (AU)

Biochemical assessment of metabolic associated fatty liver disease.

Metabolic-associated fatty liver disease (MAFLD) is defined as fat accumulation in the liver in the presence of metabolic alterations. This disorder is generally asymptomatic and may progress to severe liver disease, which are linked to inflammation and/or fibrosis. MAFLD has a high prevalence (26%) and therefore a considerable number of patients are at high risk of having advanced liver disease. This document provides an overview of the most relevant serological markers in the characterization and diagnosis of MAFLD. An example is provided of a routine diagnostic algorithm that incorporates serological testing. A range of useful serological scores are currently available for the management of MAFLD patients, especially for the stratification of patients at risk of fibrosis. A large proportion of the population is at risk of developing severe liver disease. The integration of non-invasive serological markers in the stratification of patients at risk for liver fibrosis may contribute to improve the control and management of MAFLD patients.

Specific Quality of Life Assessment by the NutriQoL® Questionnaire Among Patients Receiving Home Enteral Nutrition.

BACKGROUND: Home enteral nutrition (HEN), including tube feeding and oral supplementation, can improve or worsen quality of life (QoL). The specific assessment of factors affecting QoL may identify the inherent problems associated with HEN. The aim of this study was to evaluate whether the validated NutriQoL® questionnaire is useful for assessing the QoL and the factors influencing it in patients receiving HEN. METHODS: A total of 78 patients receiving HEN completed both the NutriQoL and the SF-12 questionnaires during their routine visits to nutrition service at the hospital. RESULTS: Ninety percent of patients receiving HEN had cancer, 58% received oral supplements, and 42% received tube feeding. At recruitment, the mean score ± SD of the NutriQoL was 66 ± 14, whereas that of the SF-12 was 40 ± 9. A positive correlation between NutriQoL and SF-12 scores (ρ = 0.5; P < .001) was found. Multivariate analysis showed that HEN type (oral vs tube) (odds ratio [OR], 5.6; 95% CI 2.0-15.3; P = .001) and the absence of secondary effects (OR, 3.0; 95% CI, 1.2-7.9; P = .024) were both variables explaining NutriQoL results adjusted by sex and age. The SF-12 results did not show associations with nutrition factors. On visit 2, we observed significant improvements in NutriQoL results. CONCLUSION: The NutriQoL questionnaire identifies specific problems that affect the QoL of patients receiving HEN, whereas SF-12 does not. The route of entry and the occurrence of complications influence specific QoL. NutriQoL is a useful tool to identify the factors that worsen the QoL in patients receiving HEN.

Efectividad de una intervención educativa enfermera en pacientes crónicos complejos / Effectiveness of a nursing training intervention in complex chronic patients

OBJETIVO: Evaluar el efecto de una intervención formativa realizada por enfermeras en pacientes crónicos complejos durante el ingreso hospitalario en un servicio de Medicina Interna. MÉTODO: Ensayo clínico pragmático de una intervención educativa de enfermeras frente a la actuación habitual. Para el grupo de intervención se diseñó un plan de educación en cuidados, personalizado para cada paciente, en función de las necesidades detectadas en una primera entrevista. La intervención se extendió durante el tiempo del ingreso y se dispuso de un teléfono de contacto al alta para la resolución de dudas. RESULTADOS: De entre los 498 pacientes seleccionados inicialmente fueron excluidos 131 por no cumplir los criterios para ser considerados pacientes crónicos complejos o por no detectarse deficiencias en su formación o sus cuidados. Un paciente (0,20%) no aceptó participar y no hubo abandonos. De los 366 participantes, 190 se integraron en el grupo de intervención y 176 en el control. En los primeros 8 días tras el alta, reingresaron 2 (1,05%) pacientes del grupo de intervención y 8 (4,54%) del grupo control (p = 0,05). En los primeros 30 días tras el alta reingresaron 26 (13,70%) y 33 (18,75%), respectivamente (p = 0,10). CONCLUSIONES: Este estudio muestra como una intervención educativa por enfermeras en pacientes crónicos complejos, realizada durante el ingreso hospitalario en unidades de Medicina Interna, puede reducir los reingresos a corto plazo

OBJECTIVE: To evaluate whether a training intervention performed by nursing professionals in complex chronic patients, during hospitalisation in an internal medicine service, can modify the pattern of readmissions or reduce their number. METHOD: Pragmatic clinical trial of a nursing training intervention vs. habitual performance. For the intervention group, a training plan in care was designed, personalised for each patient, according to the needs detected in a first interview. The intervention was extended during the time of admission and a contact phone was available after discharge to resolve doubts. RESULTS: Among the 498 patients interviewed initially, 131 were excluded because they were not a complex chronic patient or because they found no deficiencies in their training or care. One patient (.20%) did not agree to participate and there were no dropouts. Of the 366 participants, 190 were included in the intervention group and 176 in the control group. In the first 8 days after discharge, 2 (1.05%) patients from the intervention group and 8 (4.54%) from the control group were re-admitted (p=.05). In the first 30 days after discharge, 26 patients (13.70%) and 33 patients (18.75%) respectively (p=.10) were readmitted. CONCLUSIONS: This study shows how a nursing training intervention during hospitalisation in Internal Medicine in complex chronic patients reduces short-term readmissions

Analytical performance specifications based on the state-of-the-art for the newborn screening.

INTRODUCTION: For the measurands of the newborn screening (NBS), there are no analytical performance specifications (APS) available based on the Milan consensus Models. The objective is to provide total error (TE) APS based on the state-of-the-art (SOTA) for the NBS. MATERIAL AND METHODS: 23,662 results were collected from the Spanish NBS EQA scheme between May 2015 and September 2018. Measurands included: thyroid-stimulating hormone (TSH), immunoreactive trypsinogen (IRT), phenylalanine (Phe), tyrosine (Tyr), free carnitine (C0), acetylcarnitine (C2), propionylcarnitine (C3), butyrylcarnitine (C4), isovalerylcarnitine (C5), glutarylcarnitine (C5DC), hexanoylcarnitine (C6), octanoylcarnitine (C8), decanoylcarnitine (C10), myristoylcarnitine (C14), palmitoylcarnitine (C16), stearoylcarnitine (C18). TE APS were calculated as the 90th percentile of the measurement errors, considering 75% of the best results from each laboratory only. It was also studied whether the analytical performance was concentration-dependent. RESULTS: When TE APS were calculated including all methods, TSH, IRT, C16 and C18 showed the best analytical performance and Phe, C5DC and C10 showed the worst. Generally, TE APS decreased when considering only majority methods and higher TE APS were obtained for lower concentrations. DISCUSSION: Due to the lack of APS based on superior models, the proposed TE APS based on the SOTA can help NBS laboratories to set quality specifications.

Effectiveness of a nursing training intervention in complex chronic patients. / Efectividad de una intervención educativa enfermera en pacientes crónicos complejos.

OBJECTIVE: To evaluate whether a training intervention performed by nursing professionals in complex chronic patients, during hospitalisation in an internal medicine service, can modify the pattern of readmissions or reduce their number. METHOD: Pragmatic clinical trial of a nursing training intervention vs. habitual performance. For the intervention group, a training plan in care was designed, personalised for each patient, according to the needs detected in a first interview. The intervention was extended during the time of admission and a contact phone was available after discharge to resolve doubts. RESULTS: Among the 498 patients interviewed initially, 131 were excluded because they were not a complex chronic patient or because they found no deficiencies in their training or care. One patient (.20%) did not agree to participate and there were no dropouts. Of the 366 participants, 190 were included in the intervention group and 176 in the control group. In the first 8 days after discharge, 2 (1.05%) patients from the intervention group and 8 (4.54%) from the control group were re-admitted (p=.05). In the first 30 days after discharge, 26 patients (13.70%) and 33 patients (18.75%) respectively (p=.10) were readmitted. CONCLUSIONS: This study shows how a nursing training intervention during hospitalisation in Internal Medicine in complex chronic patients reduces short-term readmissions.

Papel de la ansiedad preoperatoria en la percepción de dolor en pacientes sometidas a histeroscopia quirurgica en consulta / Impact of preprocedural anxiety levels on pain perception in patients undergoing office surgical hysteroscopy

OBJETIVO: Determinar si la ansiedad preoperatoria supone un factor de riesgo independiente para la percepción de dolor severo durante la realización de una histeroscopia quirúrgica ambulatoria. MATERIAL Y MÉTODOS: Estudio de cohortes en el que incluimos179 pacientes. Se ha aplicado el formulario STAI-S para valorar la ansiedad preoperatoria de las pacientes y distribuirlas en dos cohortes: Pacientes con ansiedad (STAI-S >50) y pacientes sin ansiedad (STAI-S7. Se ha calculado la asociación y el riesgo entre ambas variables mediante el Test X2 y el Riesgo Relativo (RR). Se ha utilizado el test de correlación de Pearson para valorar la correlación entre ambas variables. Se ha considerado estadísticamente significativo un valor de p<0.05. RESULTADOS: Las pacientes que percibieron dolor severo durante la entrada a la cavidad uterina (78,3% vs 29,5%; p<0,001) y durante la realización del proceso quirúrgico (78,8% vs 26,2%; p<0,001) fueron en su mayoría pacientes con ansiedad preoperatoria. El RR de las pacientes con ansiedad para percibir dolor severo es de 6,46 (IC 95%; 2,52 -16,60) durante la entrada y de 6,61 (IC 95%; 3,04 -14,38) durante la resección. Existe una correlación moderada y positiva entre las puntuaciones obtenida en la escala STAI-S y la puntuación EVA, tanto durante la entrada a la cavidad (r = 0,629; p = 0,042) como durante el proceso quirúrgico (r = 0'661; p =0'021). CONCLUSIONES: Las pacientes con ansiedad preoperatoria tienen más riesgo de percibir dolor severo durante la entrada en la cavidad uterina y durante la realización de la intervención histeroscópica.

OBJECTIVE: Determine if preprocedural anxiety is an independent risk factor for the perception of severe pain during an outpatient surgical hysteroscopy. MATERIAL AND METHODS: There were 179 patients included in this cohort study. The STAI-S questionnaire has been applied to assess the preoperative anxiety of the patients and distribute them into two cohorts: Patients with anxiety (STAI-S>50) and patients without anxiety (STAI-S 7. The association and the risk between both variables have been calculated using X2 test and relative risk (RR). Pearson's correlation test was used to assess the correlation between both variables. A p value < 0,05 has been considered statistically significant. RESULTS: Patients who perceived severe pain during access to the uterine cavity (78,3% vs 29,5%; p<0,001) and during the surgical procedure (78,8% vs 26,2%; p<0,001) were mostly patients with preoperative anxiety. The RR of patients with anxiety to perceive severe pain is 6.46 (95% CI; 2,52-16,60) during access to the uterine cavity and 6,61 (95% CI; 3,04-14,38) during resection. We have found a moderate and positive correlation between the scores obtained on the STAI-S questionnaire and VAS score during access to the uterine cavity (r=0,629; p=0,042) and during the surgical process (r=0,661; p=0,021) CONCLUSIONS: Patients with preprocedural anxiety are more at risk of perceiving severe pain during access into the uterine cavity and during the hysteroscopic intervention.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

PURPOSE: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. RESULTS: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. CONCLUSIONS: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.

Analysis of hepatitis B virus preS1 variability and prevalence of the rs2296651 polymorphism in a Spanish population.

AIM: To determine the variability/conservation of the domain of hepatitis B virus (HBV) preS1 region that interacts with sodium-taurocholate cotransporting polypeptide (hereafter, NTCP-interacting domain) and the prevalence of the rs2296651 polymorphism (S267F, NTCP variant) in a Spanish population. METHODS: Serum samples from 246 individuals were included and divided into 3 groups: patients with chronic HBV infection (CHB) (n = 41, 73% Caucasians), patients with resolved HBV infection (n = 100, 100% Caucasians) and an HBV-uninfected control group (n = 105, 100% Caucasians). Variability/conservation of the amino acid (aa) sequences of the NTCP-interacting domain, (aa 2-48 in viral genotype D) and a highly conserved preS1 domain associated with virion morphogenesis (aa 92-103 in viral genotype D) were analyzed by next-generation sequencing and compared in 18 CHB patients with viremia > 4 log IU/mL. The rs2296651 polymorphism was determined in all individuals in all 3 groups using an in-house real-time PCR melting curve analysis. RESULTS: The HBV preS1 NTCP-interacting domain showed a high degree of conservation among the examined viral genomes especially between aa 9 and 21 (in the genotype D consensus sequence). As compared with the virion morphogenesis domain, the NTCP-interacting domain had a smaller proportion of HBV genotype-unrelated changes comprising > 1% of the quasispecies (25.5% vs 31.8%), but a larger proportion of genotype-associated viral polymorphisms (34% vs 27.3%), according to consensus sequences from GenBank patterns of HBV genotypes A to H. Variation/conservation in both domains depended on viral genotype, with genotype C being the most highly conserved and genotype E the most variable (limited finding, only 2 genotype E included). Of note, proline residues were highly conserved in both domains, and serine residues showed changes only to threonine or tyrosine in the virion morphogenesis domain. The rs2296651 polymorphism was not detected in any participant. CONCLUSION: In our CHB population, the NTCP-interacting domain was highly conserved, particularly the proline residues and essential amino acids related with the NTCP interaction, and the prevalence of rs2296651 was low/null.

Conocimientos, actitudes y prácticas, del personal de enfermería en el manejo del paciente traqueostomizado en las áreas Medicina, Cirugía y Ortopedia del Hospital Militar Escuela Dr. Alejandro Dávila Bolaños, Marzo 2017 / Knowledge, attitudes and practices of nursing staff in the management of tracheostomized patients in the Medicine, Surgery and Orthopedics areas of the Dr. Alejandro Dávila Bolaños Military Hospital School, March 2017

OBJETIVO: Relacionar los conocimientos, actitudes y prácticas, del personal de enfermería en el manejo del paciente con traqueostomizado en las áreas de Medicina, Cirugía y Ortopedia del Hospital Militar Escuela Dr. Alejandro Dávila Bolaños, Marzo 2017. DISEÑO: Es un estudio CAP descriptivo de corte transversal, en donde participaron 32 enfermeras/os del área de hospitalización de medicina, cirugía y ortopedia, que cumplieron con el criterio de inclusión, los que previa firma de autorización de consentimiento informado realizaron llenado de encuestas, para el análisis estadístico de datos se utilizó el programas SPSS versión 20.0. RESULTADOS: Del total de 44 personas que conformaban el universo, solo 32 decidieron aceptar participar en el estudio, El grupo etáreo de mayor relevancia fue de 20 a 25 años, con una antigüedad y ejercicio profesional de 1-4 años, siendo el sexo femenino el de mayor predominio, la mayoría del personal encuestado conoce los conceptos básicos relativos al manejo del paciente con traqueostomía, asepsia, antisepsia, técnicas de aspiración, conocen claramente cuáles son los cuidados específicos que se deben de brindar al paciente con traqueostomía y el material y equipo necesarios para la atención. Sin embargo se observó al momento de realizar los procedimientos para el cuidado no aplican la teoría en la práctica. CONCLUSIONES: El personal de enfermería a pesar de tener conocimientos básicos sobre el manejo del paciente traqueostomizado, la actitud no es adecuada puesto que al momento de la práctica no aplican el conocimiento que poseen siendo deficiente

Neonatal Screening for Inherited Metabolic Diseases in 2016.

The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934. This disease has been the paradigm of inherited metabolic diseases. The next paradigm was the introduction of tandem mass spectrometry in the NBS programs that make possible the simultaneous measurement of several metabolites and consequently, the detection of several diseases in one blood spot and in an unique analysis. We aim to review the current situation of neonatal screening in 2016 worldwide and show scientific evidence of the benefits for some diseases. We will also discuss future challenges. It should be taken into account that any consideration to expand an NBS panel should involve a rigorous process of decision-making that balances benefits against the risks of harm.

Darunavir and ritonavir total and unbound plasmatic concentrations in HIV-HCV-coinfected patients with hepatic cirrhosis compared to those in HIV-monoinfected patients.

Our objective was to describe the pharmacokinetic (PK) parameters of total and unbound darunavir and ritonavir concentrations in HIV-hepatitis C virus (HCV)-coinfected patients with cirrhosis, as ritonavir-boosted darunavir is mainly metabolized in the liver, and hepatic cirrhosis might modify darunavir-ritonavir concentrations. This was a prospective, case-control, and unicenter study. HIV-HCV-coinfected patients with compensated cirrhosis (cases) and HIV-monoinfected patients with normal liver function (controls) were included. Darunavir-ritonavir was given at 800/100 mg once daily. Patients were followed for 24 weeks to assess safety and efficacy. A steady-state 12-h PK study was performed. Total and unbound concentrations were determined by liquid chromatography-tandem mass spectrometry. The unbound fraction was obtained by ultrafiltration. The plasma area under the concentration-time curve (AUC) and oral clearance (CL/F) were assessed by noncompartmental models. Thirty patients (20 cases and 10 controls) were included. Among cirrhotic patients, the Child-Pugh score was C in 4 cases, B in 1 case, and A in 15 cases; the median (interquartile range) transient elastography values were 20 kPa (14 to 26 kPa), and 5 patients had prior clinical decompensations. There were no significant differences in the darunavir PK parameters between cases and controls except for longer time to maximum plasma concentrations (Tmax) and half-lives in the cirrhotic patients. There were no significant differences in ritonavir total concentrations, but the unbound concentrations were higher in cirrhotic patients. There were significant correlations between the darunavir total and unbound concentrations in both cirrhotic patients and controls. There were no differences in PK parameters based on Child-Pugh score, liver elasticity, gender, or use of concomitant medications. In conclusion, in HIV-HCV-coinfected patients with clinically compensated cirrhosis receiving darunavir-ritonavir at 800/100 mg once daily, the darunavir total and unbound concentrations are similar to those observed in noncirrhotic patients, and dose adjustments are not necessary.