Objective: to present the results of the Spanish home enteral nutrition (HEN) registry of the NADYA-SENPE group for the year 2016 and 2017. Material and methods: from January 1st 2016 to December ...31st 2017, the HEN registry was recorded and afterwards a further descriptive and analytical analysis was done. Results: in 2016, 4,578 active patients were recorded and prevalence was 98.33 patients per one million inhabitants; in 2017, 4,777 patients were recorded, with a prevalence of 102.57 per one million inhabitants; 50.8% were males in 2016 and 50.5% in 2017. During the period 2016-17, median age was 71.5 years (IIQ 57-83), 1,558 HEN episodes were finished and the main cause was death (793 patients, 50.89%). Adult males were younger than females (65.3 vs. 73.3 years, p-value < 0.001). The most frequent diagnosis was the neurological disorder that presents with aphagia or severe dysphagia (59%). Nasogastric tube was the most frequent administration route (48.3%) and it is the most widely used in elderly patients (p < 0.001). One hundred and twenty-six pediatric patients were registered (57.1% females). Median age at the beginning of HEN in children was four months. "Other disorders" was the most recorded diagnostic group (41.3%), followed by the group of neurological disorder that presents with aphagia or severe dysphagia. Regarding children, 57.6% were fed through gastrostomy and the younger ones were fed through nasogastric tube (p-value 0.001). Conclusions: the number of patients in the registry, as well as the number of participating centers, is progressively increasing. The main characteristics of the patients have not changed. Despite the increase in diagnostic possibilities in the pediatric population, the classification within the group of "Other pathologies" is quite significant.
Resumen Objetivo: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe.com) del año 2017. Material y métodos: análisis ...descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE desde el 1 de enero al 31 de diciembre de 2017. Resultados: se registraron 308 pacientes (54,5% mujeres), 38 niños y 270 adultos, procedentes de 45 hospitales españoles, en total 312 episodios, lo que representa una tasa de prevalencia de 6,61 pacientes/millón de habitantes/año 2017. El diagnóstico más frecuente en adultos fue "oncológico paliativo" (25,6%), seguido de "otros". En niños fue la enfermedad de Hirschsprung, con seis casos (15,8%). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (55,3%) como en adultos (33,7%). El tipo de catéter más utilizado fue el tunelizado tanto en niños (74,3%) como en adultos (38,2%). Finalizaron 81 episodios; la causa más frecuente fue el fallecimiento (62,9%) y que pasaron a vía oral (34,7%). Conclusiones: se mantiene el incremento progresivo de centros y profesionales colaboradores en el registro de pacientes que reciben NPD. Las principales indicaciones de NPD y de motivo de finalización se mantienen estables.
To communicate HPN data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2016.
Descriptive analysis of the data collected from adult and pediatric patients ...with HPN in the NADYA-SENPE group registry from January 1st, 2016 to December 31st, 2016.
There were 286 patients from 42 Spanish hospitals (54.2% women), 34 children and 252 adults, with 294 episodes, which represent a prevalence rate of 6.16 patients / million inhabitants / year 2016. The most frequent diagnosis in adults was "palliative cancer" (25.8%), followed by "others". In children it was "motility alterations" with 6 cases (17.6%), Hirschsprung's disease and necrotising enterocolitis, both with 5 children (14.7%). The first indication was short bowel syndrome in both children (64.7%) and adults (37.3%), followed by intestinal obstruction in 28.6% adults and 14.7% in children. The most frequently used type of catheter was tunnelled in both children (70.6%) and adults (37.9%). The most frequent complication in adults was infection related to the catheter, which presented a rate of 0.48 infections / 1,000 days of NPD. During this period, 71 episodes ended in adults and the main cause was death (57.7%) followed by resuming the oral route (31%).
There is a progressive increase of centers and professional collaborators in the registry who report patients receiving parenteral nutrition at home. The main indications of HPN and the motive for ending have remained stable.
to communicate the results of the Spanish Home Parenteral Nutrition (HEN) registry of the NADYASENPE group for the year 2014.
data was recorded online by NADYA group collaborators that were ...responsible of the HPN follow-up from 1st January to 31st December 2014.
a total of 220 patients and 229 episodes of HPN were registered from 37 hospitals that represents a rate of 4.7 patients/million habitants/year 2014. The most frequent disease in adults was other diseases (23.3%), neoplasm (20.4%) followed by radical active neoplasm (11.8%) and mesenteric ischemia (10.9%). The most frequent diagnosis for children were the congenital intestinal disorders (33.3%) followed by traumatic short bowel and other diagnosis.
the number of participating centers and registered patients increased progressively respect to preceding years. We consider that the HPN should be regulated by the Sanitary Administration within the framework of the National Health Service Interregional Council. And its inclusion in the portfolio of health services of the different Autonomous Comunities would be beneficial for patients and professionals.
Nutricion hospitalaria Wanden-Berghe Lozano, Carmina; Campos Martín, Cristina; Cuerda Compes, Cristina ...
Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral,
11/2016, Letnik:
33, Številka:
6
Journal Article
Objetivo: Comunicar los datos del registro de Nutrición Parenteral Domiciliaria (NPD) del grupo de trabajo NADYA-SENPE del años 2015.Material y métodos: Recopilación de los datos de NPD del registro ..."on-line" del grupo de Nutrición Artificial Domiciliaria y Ambulatoria (NADYA) desde el 1 de enero de 2015 al 31 de diciembre de 2015.Resultados: Se registraron 236 pacientes, con 243 episodios de NPD procedentes de 40 hospitales. Lo que representa una tasa de 5,08 pacientes/millón de habitantes/ año 2015. La patología más frecuente en los adultos fue "otros" (26,3%) seguido por "oncológico paliativo" (21,6%). La complicación más frecuente fue la séptica relacionada con el catéter que presentó una tasa de 0,53 infecciones/1000 días de NPD. Finalizaron 64 episodios, la principal causa fue el fallecimiento (43,7%) y el 'paso a la vía oral' (32,8%).Conclusiones: constatamos el aumento de los centros y profesionales colaboradores, dando respuesta a la cantidad progresivamente mayor de pacientes con soporte nutricional parenteral en domicilio. Se mantienen estables las principales indicaciones para el establecimiento de NPD y las causas de finalización del tratamiento.
Although the clinical practice guidelines recommend continuous adjustment of asthma treatment and reducing the maintenance drugs when achieving control (step-down), there are few studies of standard ...clinical practice aimed at collecting information on the factors that determine step-down failure.
To determine the factors that determine step-down failure in standard clinical practice of patients with moderate-severe asthma controlled by a combination of inhaled glucocorticoids and long-acting beta agonists.
A multicentre retrospective study included 374 patients with moderate-severe asthma controlled with inhaled glucocorticoids and long-acting beta agonists for whom the physician indicated a step-down in 2016.
The step-down failed in 41.7% of the patients. The following factors were related to failure: greater patient age (p=.006), presence of at least 2 comorbidities (p=.016), greater severity level (severe persistent vs. moderate persistent) (p<.001), greater age at diagnosis (>40 years) (p=.045), the higher the therapeutic step before (p=.003) and after the change (p<.001), the shorter the time of improvement/control prior to the change (p=.019), lower FEV1 (p=.001) and a poorer Asthma Control Test score or Asthma Control Questionnaire score before the step-down (p<.001). The logistic regression analysis showed a higher probability of step-down failure in the more elderly patients (OR, 0.983; 95% CI 0.969–0.997) and those with severe asthma compared to those with moderate asthma (OR, 0.537; 95% CI 0.292–0.985), as well as an increased probability of success if the patients had the disease controlled for more than 6 months (OR, 2.253; 95% CI 1.235–4.112).
In standard clinical practice conditions, step-down fails in a high percentage of patients, and the suggestion is to indicate step-down when the patient has had more than 6 months of disease control.
Aunque las guías de práctica clínica recomiendan un ajuste continuado del tratamiento del asma, reduciendo la medicación de mantenimiento cuando se alcanza el control (step-down), existen pocos estudios de práctica clínica habitual orientados a recabar información de los factores que condicionan su fracaso.
Determinar los factores que condicionan en la práctica clínica habitual el fracaso del step-down en los pacientes asmáticos moderados-graves controlados con una combinación de glucocorticoides inhalados/agonistas beta-2 adrenérgicos de acción larga.
Estudio multicéntrico retrospectivo sobre 374 pacientes con asma moderada-grave controlada con glucocorticoides inhalados/agonistas beta-2 adrenérgicos de acción larga en quienes el facultativo indicó en 2016 un step-down.
El step-down fracasó en el 41,7%. Los factores relacionados con el fracaso fueron: la mayor edad del paciente (p=0,006), la presencia de 2 o más comorbilidades (p=0,016), el mayor nivel de gravedad (persistente grave vs. persistente moderada) (p<0,001), la mayor edad al diagnóstico (>40 años) (p=0,045), cuanto más alto es el escalón terapéutico previo (p=0,003) y posterior al cambio (p<0,001), cuanto menor sea el tiempo de mejoría/control previo al cambio (p=0,019), el FEV1 más bajo (p=0,001) y un peor Asthma Control Test o Asthma Control Questionnaire antes del step-down (p<0,001). El análisis de regresión logística mostró que existe una mayor probabilidad (odds ratio IC 95% de fracaso del step-down en los pacientes más añosos: OR 0,983 0,969-0,997, con asma grave vs. moderada: OR 0,537 0,292-0,985 y mayor probabilidad de éxito si llevan más de 6 meses con la enfermedad controlada: OR 2,253 1,235-4,112).
En condiciones de práctica clínica habitual el step-down fracasa en un porcentaje alto de pacientes y se recomienda indicarlo cuando el paciente lleve más de 6 meses controlado.
The stool antigen test (SAT) represents an attractive alternative for detection of Helicobacter pylori. The aim of this study was to assess the accuracy of a new SAT, the automated LIAISON® Meridian ...H. pylori SA based on monoclonal antibodies, compared to the defined gold standard 13C-urea breath test (UBT). This prospective multicentre study (nine Spanish centres) enrolled patients ≥18 years of age with clinical indication to perform UBT for the initial diagnosis and for confirmation of bacterial eradication. Two UBT methods were used: mass spectrometry (MS) including citric acid (CA) or infrared spectrophotometry (IRS) without CA. Overall, 307 patients (145 naïve, 162 with confirmation of eradication) were analysed. Using recommended cut-off values (negative SAT < 0.90, positive ≥ 1.10) the sensitivity, specificity, positive predictive value, negative predictive value and accuracy were 67%, 97%, 86%, 92% and 91%, respectively, obtaining an area under the receiver operating characteristic (ROC) curve (AUC) of 0.85. Twenty-eight patients, including seven false positives and 21 false negatives, presented a discordant result between SAT and UBT. Among the 21 false negatives, four of six tested with MS and 11 of 15 tested with IRS presented a borderline UBT delta value. In 25 discordant samples, PCR targeting H. pylori DNA was performed to re-assess positivity and SAT accuracy was re-analysed: sensitivity, specificity, positive predictive value, negative predictive value, accuracy and AUC were 94%, 97%, 86%, 99%, 97% and 0.96, respectively. The new LIAISON® Meridian H. pylori SA SAT showed a good accuracy for diagnosis of H. pylori infection.
GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial ...(NCT04646447) designed to evaluate the tolerability and efficacy of L-serine in children with GRIN genetic variants leading to loss-of-function. In this phase 2A trial, patients aged 2-18 years with GRIN loss-of-function pathogenic variants received L-serine for 52 weeks. Primary end points included safety and efficacy by measuring changes in the Vineland Adaptive Behavior Scales, Bayley Scales, age-appropriate Wechsler Scales, Gross Motor Function-88, Sleep Disturbance Scale for Children, Pediatric Quality of Life Inventory, Child Behavior Checklist and the Caregiver-Teacher Report Form following 12 months of treatment. Secondary outcomes included seizure frequency and intensity reduction and EEG improvement. Assessments were performed 3 months and 1 day before starting treatment and 1, 3, 6 and 12 months after beginning the supplement. Twenty-four participants were enrolled (13 males/11 females, mean age 9.8 years, SD 4.8), 23 of whom completed the study. Patients had GRIN2B, GRIN1 and GRIN2A variants (12, 6 and 5 cases, respectively). Their clinical phenotypes showed 91% had intellectual disability (61% severe), 83% had behavioural problems, 78% had movement disorders and 58% had epilepsy. Based on the Vineland Adaptive Behavior Composite standard scores, nine children were classified as mildly impaired (cut-off score > 55), whereas 14 were assigned to the clinically severe group. An improvement was detected in the Daily Living Skills domain (P = 0035) from the Vineland Scales within the mild group. Expressive (P = 0.005), Personal (P = 0.003), Community (P = 0.009), Interpersonal (P = 0.005) and Fine Motor (P = 0.031) subdomains improved for the whole cohort, although improvement was mostly found in the mild group. The Growth Scale Values in the Cognitive subdomain of the Bayley-III Scale showed a significant improvement in the severe group (P = 0.016), with a mean increase of 21.6 points. L-serine treatment was associated with significant improvement in the median Gross Motor Function-88 total score (P = 0.002) and the mean Pediatric Quality of Life total score (P = 0.00068), regardless of severity. L-serine normalized the EEG pattern in five children and the frequency of seizures in one clinically affected child. One patient discontinued treatment due to irritability and insomnia. The trial provides evidence that L-serine is a safe treatment for children with GRIN loss-of-function variants, having the potential to improve adaptive behaviour, motor function and quality of life, with a better response to the treatment in mild phenotypes.
Genetic diagnosis of basal ganglia disease in childhood Baide‐Mairena, Heidy; Marti‐Sánchez, Laura; Marcé‐Grau, Anna ...
Developmental medicine and child neurology,
June 2022, 2022-Jun, 2022-06-00, 20220601, Letnik:
64, Številka:
6
Journal Article
Recenzirano
AIM
To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for ...early recognition.
METHOD
Children with basal ganglia disease were recruited in a 2‐year prospective multicentre study for clinical, biomarker, and genetic studies. Radiological pattern recognition was examined by hierarchical clustering analysis.
RESULTS
We identified 22 genetic conditions in 30 out of 62 paediatric patients (37 males, 25 females; mean age at onset 2y, SD 3; range 0–10y; mean age at assessment 11y, range 1–25y) through gene panels (n=11), whole‐exome sequencing (n=13), and mitochondrial DNA (mtDNA) sequencing (n=6). Genetic aetiologies included mitochondrial diseases (57%), Aicardi–Goutières syndrome (20%), and monogenic causes of dystonia and/or epilepsy (17%) mimicking Leigh syndrome. Radiological abnormalities included T2‐hyperintense lesions (n=26) and lesions caused by calcium or manganese mineralization (n=9). Three clusters were identified: the pallidal, neostriatal, and striatal, plus the last including mtDNA defects in the oxidative phosphorylation system with prominent brain atrophy. Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas interferon signature was observed in all patients with patients with Aicardi–Goutières syndrome.
INTERPRETATION
Combined whole‐exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. We propose a diagnostic algorithm which prioritizes early use of next‐generation sequencing on the basis of three clusters of basal ganglia lesions.
Background
Studying the adherence of the population to the Atlantic Diet (AD) could be simplified by an easy and quickly applied dietary index. The aim of this study is to analyse the relationship of ...an index measuring compliance with recommendations regarding the Atlantic diet and physical activity with cardiovascular disease risk factors, cardiovascular risk factors, obesity indexes and arterial stiffness markers.
We included 791 individuals from the EVIDENT study (lifestyles and arterial ageing), (52.3 ± 12 years, 61.7% women) without cardiovascular disease. Compliance with recommendations on AD was collected through the responses to a food frequency questionnaire, while physical activity was measured by accelerometer. The number of recommendations being met was estimated using a global scale between 0 and 14 points (a higher score representing greater adherence). Blood pressure, plasma lipid and glucose values and obesity rates were measured. Cardiovascular risk was estimated with the Framingham equation.
In the overall sample, 184 individuals (23.3%) scored between 0⁻3 on the 14-point index we created, 308 (38.9%) between 4 and 5 points, and 299 (37.8%) 6 or more points. The results of multivariate analysis yield a common tendency in which the group with an adherence score of at least 6 points shows lower figures for total cholesterol (
= 0.007) and triglycerides (
= 0.002). Similarly, overall cardiovascular risk in this group is the lowest (
< 0.001), as is pulse wave velocity (
= 0.050) and the mean values of the obesity indexes studied (
< 0.05 in all cases).
The rate of compliance with the Atlantic diet and physical activity shows that greater adherence to these recommendations is linked to lower cardiovascular risk, lower total cholesterol and triglycerides, lower rates of obesity and lower pulse wave velocity values.
PDF
