The use of alternative interventions, such as gluten-free and casein-free (GFCF) diets, is frequent due to limited therapies for Autism Spectrum Disorder (ASD). Our aims were to determine the ...influence of a GFCF diet on behavior disorders in children and adolescents diagnosed with ASD and the potential association with urinary beta-casomorphin concentrations. Thirty-seven patients were recruited for this crossover trial. Each patient consumed a normal diet (including gluten and casein) for 6 months and a GFCF diet for another 6 months. The order of the intervention (beginning with normal diet or with GFCF diet) was assigned randomly. Patients were evaluated at three time-points (at the beginning of the study, after normal diet and after GFCF diet). Questionnaires regarding behavior and autism and dietary adherence were completed and urinary beta-casomorphin concentrations were determined at each time-point. No significant behavioral changes and no association with urinary beta-casomorphin concentrations were found after GFCF diet. A 6-month GFCF diet do not induce significant changes in behavioral symptoms of autism and urinary beta-casomorphin concentrations. Further studies with a long follow-up period similar to ours and including placebo and blinding elements are needed to identify better those respondents to GFCF diets.
Objective
To evaluate the performance of Rapid‐Heat LAMPellet assay in field conditions for diagnosis of urogenital schistosomiasis in an endemic area in Cubal, Angola, and to assess the ...reproducibility in a reference laboratory.
Methods
A total of 172 urine samples from school‐age children were tested for microhaematuria, microscopic detection of Schistosoma haematobium eggs and LAMP for DNA detection. Urine samples were stored in a basic equipped laboratory. Field‐LAMP tests were performed with and without prior DNA extraction from urine samples, and the results were read by turbidity and by colour change. When field procedures were finished, samples were sent to a reference laboratory to be reanalysed by LAMP.
Results
A total of 83 of 172 (48.3%) were positive for microhaematuria, 87/172 (50.6%) were microscopy‐positive for S. haematobium eggs detection, and 127/172 (73.8%) showed LAMP‐positive results for detecting S. haematobium using purified DNA and 109/172 (63.4%) without prior DNA extraction. MacNemar's test showed a statistical significant relation between LAMP results and microscopy‐detected S. haematobium infections and microhaematuria (P < 0.001 in both cases), respectively. When samples of purified DNA were reanalysed in a reference laboratory in Spain using the same LAMP methodology, the overall reproducibility achieved 72.1%.
Conclusions
The ease of use, simplicity and feasibility demonstrated by LAMP assay in field conditions together with the acceptable level of reproducibility achieved in a reference laboratory support the use of LAMP assay as an effective test for molecular diagnosis of urogenital schistosomiasis in endemic remote areas.
Objectif
Evaluer la performance du test Rapid‐Heat LAMPellet dans des conditions de terrain pour le diagnostic de la schistosomiase urogénitale dans une zone endémique à Cubal, en Angola, et évaluer sa reproductibilité dans un laboratoire de référence.
Méthodes
Au total 172 échantillons d'urine d'enfants d’âge scolaire ont été testés pour la micro hématurie, la détection microscopique des œufs de S. haematobium et LAMP pour la détection de l'ADN. Des échantillons d'urine ont été stockés dans un laboratoire équipé de base. Des tests LAMP de terrain ont été effectués avec et sans extraction préalable d'ADN à partir d’échantillons d'urine et les résultats ont été lus par la mesure de la turbidité et du changement de couleur. Lorsque les procédures de terrain ont été achevées, les échantillons ont été envoyés dans un laboratoire de référence pour être re‐analysés par LAMP.
Résultats
83 des 172 (48.3%) échantillons étaient positifs pour la micro hématurie, 87/172 (50.6%) étaient positifs par la microscopie pour la détection des œufs de S. haematobium et 127/172 (73.8%) ont montré des résultats positifs pour la détection de S. haematobium avec extraction préalable d'ADN et 109/172 (63.4%) étaient positifs sans extraction d'ADN. Le test de MacNemar a montré une association statistiquement significative entre les résultats du LAMP et de la détection microscopique des infections à S. haematobium et la micro hématurie (p < 0.001 dans les deux cas). Lorsque des échantillons d'extraits d'ADN ont été re‐analysés dans un laboratoire de référence en Espagne en utilisant la même méthode LAMP, la reproductibilité globale était de 72.1%.
Conclusions
La facilité d'utilisation, la simplicité et la faisabilité du test LAMP dans des conditions de terrain ainsi que le niveau acceptable de reproductibilité obtenu dans un laboratoire de référence recommandent son utilisation pour le diagnostic moléculaire de la schistosomiase urogénitale dans les régions endémiques reculées.
The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in ...these patients.
This study included 405 patients with at least 10 colonic polyps each. All cases were genetically tested for the three most frequent MUTYH mutations. Whole-gene analysis was performed in heterozygous patients and in 216 patients lacking the three most frequent mutations. Polyps from 56 patients were analyzed for the KRAS-Gly12Cys and BRAF V600E somatic mutations.
Twenty-seven (6.7%) patients were diagnosed with MAP, of which 40.8% showed serrated polyps. The sensitivity of studying only the three common variants was 74.1%. Of 216 patients without any monoallelic mutation in common variants, whole-gene analysis revealed biallelic pathogenic mutation in only one. G396D mutation was associated with serrated lesions and older age at diagnosis. There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys somatic mutation in polyps. BRAF V600E mutation was found in 74% of serrated polyps in MUTYH-negative patients and in none of the polyps of MAP patients.
We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. The MAP phenotype frequently included patients with serrated polyps, especially when G396D mutation was involved. Our results show that somatic molecular markers of polyps can be useful in identifying MAP cases and support the need for the complete MUTYH gene analysis only in patients heterozygous for recurrent variants.
There is evidence that in schizophrenia, imbalances in inflammatory and oxidative processes occur during pregnancy and in the early postnatal period, generating interest in the potential therapeutic ...efficacy of anti-inflammatory and antioxidant compounds. Mangiferin is a polyphenolic compound abundant in the leaves of
Mangifera indica L.
that has robust antioxidant and anti-inflammatory properties, making it a potential candidate for preventive or co-adjuvant therapy in schizophrenia. Hence, this study set-out to evaluate the effect of mango leaf extract (MLE) in a model of schizophrenia based on maternal immune activation, in which Poly I:C (4 mg/kg) is administered intravenously to pregnant rats. Young adult (postnatal day 60–70) or adolescent (postnatal day 35–49) male offspring received MLE (50 mg/kg of mangiferin) daily, and the effects of MLE in adolescence were compared to those of risperidone, assessing behavior, brain magnetic resonance imaging (MRI), and oxidative/inflammatory and antioxidant mediators in the adult offspring. MLE treatment in adulthood reversed the deficit in prepulse inhibition (PPI) but it failed to attenuate the sensitivity to amphetamine and the deficit in novel object recognition (NOR) induced. By contrast, adolescent MLE treatment prevented the sensorimotor gating deficit in the PPI test, producing an effect similar to that of risperidone. This MLE treatment also produced a reduction in grooming behavior, but it had no effect on anxiety or novel object recognition memory. MRI studies revealed that adolescent MLE administration partially counteracted the cortical shrinkage, and cerebellum and ventricle enlargement. In addition, MLE administration in adolescence reduced iNOS mediated inflammatory activation and it promoted the expression of biomarkers of compensatory antioxidant activity in the prefrontal cortex and hippocampus, as witnessed through the reduction of Keap1 and the accumulation of NRF2 and HO1. Together, these findings suggest that MLE might be an alternative therapeutic or preventive add-on strategy to improve the clinical expression of schizophrenia in adulthood, while also modifying the time course of this disease at earlier stages in populations at high-risk.
Substance use disorders are more prevalent in schizophrenia, but the causal links between both conditions remain unclear. Maternal immune activation (MIA) is associated with schizophrenia which may ...be triggered by stressful experiences during adolescence. Therefore, we used a double-hit rat model, combining MIA and peripubertal stress (PUS), to study cocaine addiction and the underlying neurobehavioural alterations. We injected lipopolysaccharide or saline on gestational days 15 and 16 to Sprague-Dawley dams. Their male offspring underwent five episodes of unpredictable stress every other day from postnatal day 28 to 38. When animals reached adulthood, we studied cocaine addiction-like behaviour, impulsivity, Pavlovian and instrumental conditioning, and several aspects of brain structure and function by MRI, PET and RNAseq. MIA facilitated the acquisition of cocaine self-administration and increased the motivation for the drug; however, PUS reduced cocaine intake, an effect that was reversed in MIA + PUS rats. We found concomitant brain alterations: MIA + PUS altered the structure and function of the dorsal striatum, increasing its volume and interfering with glutamatergic dynamics (PUS decreased the levels of NAA + NAAG but only in LPS animals) and modulated specific genes that could account for the restoration of cocaine intake such as the pentraxin family. On its own, PUS reduced hippocampal volume and hyperactivated the dorsal subiculum, also having a profound effect on the dorsal striatal transcriptome. However, these effects were obliterated when PUS occurred in animals with MIA experience. Our results describe an unprecedented interplay between MIA and stress on neurodevelopment and the susceptibility to cocaine addiction.
A healthcare model underway Fernández Soto, María Luisa
Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral,
2024
Journal Article
(1) Background: Hyperglycaemia that occurs during enteral nutrition (EN) should be prevented and treated appropriately since it can have important consequences for morbidity and mortality. However, ...there are few quality studies in the literature regarding the management of EN in this situation. The objective of this project was to attempt to respond, through a panel of experts, to those clinical problems regarding EN in patients with diabetes or stress hyperglycaemia (hereinafter referred to only as hyperglycaemia) for which we do not have conclusive scientific evidence; (2) Methods: The RAND/UCLA Appropriateness Method, a modified Delphi panel method, was applied. A panel of experts made up of 10 clinical nutrition specialists was formed, and they scored on the appropriateness of EN in hyperglycaemia, doing so in two rounds. A total of 2992 clinical scenarios were examined, which were stratified into five chapters: type of formula used, method of administration, infusion site, treatment of diabetes, and gastrointestinal complications. (3) Results: consensus was detected in 36.4% of the clinical scenarios presented, of which 23.7% were deemed appropriate scenarios, while 12.7% were deemed inappropriate. The remaining 63.6% of the scenarios were classified as uncertain; (4) Conclusions: The recommendations extracted will be useful for improving the clinical management of these patients. However, there are still many uncertain scenarios reflecting that the criteria for the management of EN in hyperglycaemia are not completely standardised. More studies are required to provide quality recommendations in this area.
A healthcare model underway Fernández Soto, María Luisa
Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral,
2024-May-23, Letnik:
41, Številka:
Spec No2
Journal Article
The contribution of the clinical laboratory to diagnostics is increasingly important since a great deal of clinical decisions rely on laboratory test results.
Parathyroid hormone (PTH) measurement ...presents a considerable analytical variability due to the heterogeneity of its circulating forms and the antigenic configuration of the different assays commercially available. Such variability may have an impact on pathological conditions associated with significant increases in circulating PTH, as it is the case of chronic kidney disease (CKD).
Despite the recent identification of new molecules involved in bone and mineral disorders associated with CKD, such as klotho or the fibroblastic factor 23 (FGF23), nephrologists still base their clinical decisions on PTH concentrations. The problem is that unawareness of these analytical considerations may cause errors in the clinical interpretation of test results.
This systematic review addresses these issues from the clinical laboratory perspective and proposes new approaches related to PTH method selection and result expression. These new strategies will help laboratory medicine specialists and nephrologist better determine the status of CKD patients.
Resumen
Introducción
La aportación del Laboratorio Clínico en el ámbito diagnóstico es cada día mas importante porque gran parte de las decisiones clínicas que se adoptan se basan en nuestros ...resultados.
Contenido
La cuantificación en sangre de hormona paratiroidea (PTH) presenta una importante variabilidad analítica debido a la heterogeneidad de sus formas circulantes y a la configuración antigénica de los diferentes métodos disponibles. Esta circunstancia puede tener impacto en aquellas situaciones patológicas que cursan con valores circulantes de PTH excesivamente elevados, como sucede en la enfermedad renal crónica (ERC).
Resumen
A pesar de la identificación de otras moléculas involucradas en las alteraciones óseas y minerales asociadas a la ERC, como el klotho o el factor fibroblástico 23, los nefrólogos siguen basando sus decisiones terapéuticas en la PTH; el problema es que, el desconocimiento de estos aspectos analíticos en su cuantificación, puede inducir a errores en la interpretación clínica de sus resultados.
Perspectiva
Esta revisión aborda estas consideraciones desde el Laboratorio Clínico y plantea posibles estrategias futuras, que afectan tanto a la elección del método como a la expresión de los resultados de PTH, con la finalidad de acercarnos más a la realidad del paciente renal, en colaboración con el nefrólogo.
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