Irritable bowel syndrome and basal serum tryptase: correlation between subtype, severity, and comorbidities. A pilot study.

INTRODUCTION: the activation of mast cells causes alterations in epithelial and neuromuscular function and is involved in visceral hypersensitivity and dysmotility in gastrointestinal functional disorders. OBJECTIVES: primary: to evaluate differences in basal serum tryptase (BST) between patients with irritable bowel syndrome (IBS) and healthy controls. Secondary: BST depending on IBS subtype (diarrhea: IBS-D; constipation: IBS-C), comorbidities and correlation with IBS severity and quality of life. MATERIAL AND METHODS: a prospective control-case study in IBS patients (Rome IV criteria). BST (ImmunoCAP-Phadia, Sweden®), IBS Severity Score (IBSSS), pain, bloating and flatulence analogue scales, IBS quality of life (IBSQOL), and patient health status (PHQ-9) were determined. BST is the primary variable to achieve the primary endpoint. RESULTS: thirty-two patients were included, 21 (65.6 %) with IBS-D and 11 (34.4 %) with IBS-C; 32 controls were also included. Mean IBSSSS: 326.6 (± 71.4), IBSQOL: 76 (± 20.3), and PHQ9: 10.2 (± 5.9). BST was 4.8 ± 2.6 in IBS and 4.7 ± 2.6 in controls (p = 0.875). There were no differences in BST between IBS subtypes (4.7 ± 2.9 in IBS-D and 5 ± 1.8 in IBS-C; p = 0.315) or IBS severity (p = 0.662). However, BST was higher in patients with IBS and extraintestinal comorbidities compared to other patients and controls (p = 0.029). This subgroup also has more severe bloating (p = 0.021). There was no correlation between BST, quality of life (p = 0.9260), and health status (p = 0.3985). CONCLUSION: BST does not discriminate between IBS patients and controls. However, BST was higher in patients with IBS with extraintestinal comorbidities, which had more severe bloating. This finding is worthy of investigation.

Esophageal motor disorders are frequent during pre and post lung transplantation. Can they influence lung rejection?

BACKGROUND: lung transplantation (LTx) is a viable option for most patients with end-stage lung diseases. Esophageal motor disorders (EMD) are frequent in candidates for LTx, but there is very little data about changes in esophageal motility post-LTx. AIM: the aim of our study was to assess esophageal motor disorders by high resolution manometry (HRM) both pre-LTx and six months post-LTx in patients with and without organ rejection. STUDY: HRM (Manoscan®) was performed in 57 patients both pre-LTx and six months post-LTx. HRM plots were analyzed according to the Chicago classification 3.0. RESULTS: EMD were found in 33.3% and in 49.1% of patients pre-LTx and post-LTx, respectively, and abnormal peristalsis was more frequently found post-LTx (p = 0.018). Hypercontractile esophagus was frequently found post-LTx (1.8% and 19.3% pre-LTx and post-LTx, respectively). Esophagogastric junction (EGJ) morphology changed significantly pre-LTx and post-LTx; type I (normal) was more frequent post-LTx (63-2% and 82.5% respectively, p = 0.007). EMD were more frequent post-LTx in both the non-rejection and rejection group, although particularly in the rejection group (43.2% and 69.2% respectively, p = 0.09). EMD such as distal spasm, hypercontractile esophagus and EGJ outflow obstruction were also observed more frequently post-LTx in the rejection group. CONCLUSION: significant changes in esophageal motility were observed pre-LTx and particularly post-LTx; hypercontractile esophagus was a frequent EMD found post-LTx. EMD were more frequent in the group of patients that experienced organ rejection compared to the non-rejection group. EMD leading to an impaired esophageal clearance should be considered as an additional factor that contributes to LTx failure.

Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population.

DNA phenotyping research is one of the most emergent areas of forensic genetics. Predictions of externally visible characteristics are possible through analysis of single nucleotide polymorphisms. These tools can provide police with "intelligence" in cases where there are no obvious suspects and unknown biological samples found at the crime scene do not result in any criminal DNA database hits. IrisPlex, an eye color prediction assay, revealed high prediction rates for blue and brown eye color in European populations. However, this is less predictive in some non-European populations, probably due to admixing. When compared to other European countries, Portugal has a relatively admixed population, resulting from a genetic influx derived from its proximity to and historical relations with numerous African territories. The aim of this work was to evaluate the utility of IrisPlex in the Portuguese population. Furthermore, the possibility of supplementing this multiplex with additional markers to also achieve skin color prediction within this population was evaluated. For that, IrisPlex was augmented with additional SNP loci. Eye and skin color prediction was estimated using the multinomial logistic regression and binomial logistic regression models, respectively. The results demonstrated eye color prediction accuracies of the IrisPlex system of 90 and 60% for brown and blue eye color, respectively, and 77% for intermediate eye color, after allele frequency adjustment. With regard to skin color, it was possible to achieve a prediction accuracy of 93%. In the future, phenotypic determination multiplexes must include additional loci to permit skin color prediction as presented in this study as this can be an advantageous tool for forensic investigation.

How useful is esophageal high resolution manometry in diagnosing gastroesophageal junction disruption: causes affecting this disruption and its relationship with manometric alterations and gastroesophageal reflux.

BACKGROUND: High-resolution manometry (HRM) is a breakthrough in the morphological study of the gastroesophageal junction (GEJ) and its degrees of disruption. OBJECTIVES: a) Assessment of risk factors involved in the disruption of the GEJ in patients with gastroesophageal reflux (GER) symptoms; b) the relationship between the type of GEJ and GER demonstrated by 24 hours pH-monitoring; and c) identification of the alterations in the manometric parameters related to the morphology of the GEJ. METHODS: One hundred and fifteen patients with symptoms of GER studied with HRM and classified by the type of GEJ (type I: Normal; type II: Sliding; type III: Hiatal hernia). Twenty four hour pH-monitoring without proton pump inhibitors was performed in all of them. Epidemiological aspects, manometric parameters (Chicago 2012 classification) and the pH-monitoring results were evaluated. RESULTS: Age (OR 1.033 [1.006-1.060]; p = 0.16), BMI (OR 1.097 [1.022-1.176]; p = 0. 01) and abdominal perimeter (OR 1.034 [1.005-1.063]; p = 0.0215) were independent risk factors for the GEJ type III (area under the curve 0.70). Disruption of the GEJ was associated with a lower resting pressure (p = 0.006), greater length (p < 0.001) and greater esophageal shortening (p < 0.001). Abnormal acidic reflux was found in the total period (p = 0.015), standing (p = 0.022) and supine (p = 0.001) in patients with GEJ type II and III with respect to type I. CONCLUSIONS: Increased age, overweight and central obesity pose a higher risk of GEJ type III (hiatal hernia). The greater disruption of the GEJ is associated with lower resting pressure, esophageal shortening, and higher acid exposure in the pH-monitoring.

Ketamine subcutaneous continuous infusion for non-cancer neuropathic pain at home: a case report.

OBJECTIVE: Ketamine is a drug that can effectively treat neuropathic pain by blocking the N-methyl-D-aspartate receptor. It has been studied as a supplement to opioids for cancer pain, but its effectiveness for non-cancer pain is still limited. However, despite its usefulness in managing refractory pain, ketamine is not commonly used for home-based palliative care. METHODS: A case report of a patient with severe central neuropathic pain who was treated with a subcutaneous continuous infusion of morphine and ketamine at home. RESULTS: The introduction of ketamine in the patient's treatment plan effectively controlled pain. Only one possible ketamine side effect was observed and easily treated with pharmacological and non-pharmacological measures. CONCLUSIONS: We have found success in using subcutaneous continuous infusion of morphine and ketamine to alleviate severe neuropathic pain in a home setting. We also observed a positive impact on the patient's family members' personal, emotional and relational well-being after ketamine was introduced.

[Stuttering in Children: Review and Referral Criteria]. / Disfluências e Gaguez: Revisão e Critérios de Referenciação.

Stuttering is a speech fluency disorder, in which people know perfectly well the message they want to convey, even though their speech is characterized by changes in rhythm, repetitions, prolongations, pauses and blocks, and may also be associated with states of anxiety or emotional tension. Up to one in every six children, typically between two and five years old, experience a period of transitory speech disfluency, with usual spontaneous recovery before reaching school age, with a prevalence rate of stuttering of up to 1% of the adult population, and a higher incidence rate in males (4:1). In Portugal, it is estimated that stuttering affects around 100 thousand people, acquiring importance due to its frequency and association with lower self-esteem, anxiety and social isolation, with negative impact on people's ability to communicate and on their well-being and social interactions. The aim of this article is to highlight the complexity of the diagnostic and therapeutic approach of stuttering in pediatrics, with a particular focus on differentiating between normal speech disfluencies and childhood-onset fluency disorder (stuttering) and referral criteria, in order to raise awareness and facilitate early detection of these cases.

A gaguez é uma perturbação da comunicação a nível da fluência em que a pessoa sabe claramente a mensagem que quer transmitir, mas o seu discurso é caracterizado por alterações do ritmo, repetições, prolongamentos, pausas e bloqueios, podendo ainda associar-se a quadros de ansiedade ou tensão emocional. Até uma em cada seis crianças, tipicamente entre os dois e os cinco anos, experienciam um período de disfluência transitória, com habitual recuperação espontânea até à idade escolar, verificando-se uma prevalência de gaguez em até 1% da população adulta, com maior incidência no sexo masculino (4:1). Em Portugal, é estimado que a gaguez afete cerca de 100 mil pessoas, adquirindo particular importância pela sua frequência e associação a redução da autoestima, ansiedade e isolamento social com impacto na capacidade de comunicação do indivíduo e no seu bem-estar e interações sociais. Este artigo tem como objectivo alertar para a complexidade da abordagem diagnóstica e terapêutica em idade pediátrica, com particular incidência na diferenciação entre disfluências normais da fala e perturbação da fluência com início na infância (gaguez) e critérios de referenciação, pretendendo consciencializar e facilitar a deteção e orientação precoce destes casos.

A satisfação dos estudantes de enfermagem com as práticas clínicas simuladas / Nursing students' satisfaction with simulated clinical experiences / Satisfacción de los estudiantes de enfermería con las prácticas clínicas simuladas

Resumo Enquadramento: As práticas clínicas simuladas, designadas por experiências clínicas simuladas ou simulação, são um processo formativo dinâmico e desafiador que decorre em ambiente controlado com recurso a cenários que recriam a realidade clínica. Objetivo: Estudar a satisfação dos estudantes de enfermagem com as práticas clínicas simuladas. Metodologia: Estudo descritivo-correlacional de abordagem quantitativa, com uma amostra de 223 estudantes de enfermagem. Aplicada a Escala de Satisfação com as Experiências Clínicas Simuladas (ESECS), constituída pelas dimensões: prática, cognitiva e realismo. Resultados: A satisfação média global com as práticas clínicas simuladas, foi de 7,501 na escala de 1-10. As características sociodemográficas, ano curricular e conteúdos, não foram preditivos da satisfação. Os estudantes apresentam-se em média mais satisfeitos na dimensão cognitiva e menos satisfeitos na dimensão realismo. Conclusão: Os estudantes apresentam-se satisfeitos com as práticas clínicas simuladas percecionando a sua importância para a aprendizagem, na aquisição de competências e maior capacidade de resposta no ensino clínico em contexto real. Tal reforça a pertinência do investimento, teórico, científico e prático, nesta estratégia de ensino.

Abstract Background: Simulated clinical experiences, also known as simulated clinical practices or simulation, are dynamic and challenging training activities that occur in a controlled environment using scenarios that recreate real-life clinical practice. Objective: To examine nursing students' satisfaction with simulated clinical experiences. Methodology: This quantitative descriptive-correlational study was conducted with 223 nursing students, using the Escala de Satisfação com as Experiências Clínicas Simuladas (ESECS; Satisfaction with Simulated Clinical Experiences Scale), which includes the Practical, Cognitive, and Realism dimensions. Results: The total mean of global satisfaction with the simulated clinical experiences was 7.501 on a scale of 1 to 10. The socio-demographic characteristics and course year and contents were not predictors of satisfaction. On average, students were more satisfied with the Cognitive dimension and less satisfied with the Realism dimension. Conclusion: Students are satisfied with simulated clinical experiences and understand their importance for acquiring skills and improving their ability to respond during clinical teachings in real-life contexts. For this reason, the theoretical, scientific, and practical investment in this teaching strategy is highly relevant.

Resumen Marco contextual: Las prácticas clínicas simuladas, denominadas experiencias clínicas simuladas o simulación, son un proceso de formación dinámico y desafiante que tiene lugar en un entorno controlado y que utiliza escenarios que recrean la realidad clínica. Objetivo: Estudiar la satisfacción de los estudiantes de enfermería con las prácticas clínicas simuladas. Metodología: Estudio descriptivo-correlacional con enfoque cuantitativo, con una muestra de 223 estudiantes de enfermería. Se aplicó la Escala de Satisfacción con las Experiencias Clínicas Simuladas (ESECS), que consta de las siguientes dimensiones: práctica, cognitiva y realismo. Resultados: La satisfacción global media con las prácticas clínicas simuladas fue de 7,501 en una escala del 1 al 10. Las características sociodemográficas, el año de estudio y los contenidos no predijeron la satisfacción. De media, los estudiantes se mostraron más satisfechos en la dimensión cognitiva y menos satisfechos en la dimensión realismo. Conclusión: Los estudiantes se muestran satisfechos con las prácticas clínicas simuladas y son conscientes de su importancia para el aprendizaje, la adquisición de habilidades y una mayor capacidad de respuesta en la enseñanza clínica en un contexto real. Esto refuerza la pertinencia de la inversión teórica, científica y práctica en esta estrategia pedagógica.

Analysis of 17 STR data on 5362 southern Portuguese individuals-an update on reference database.

The main objective of this work consisted of the updating of allele frequencies and other relevant forensic parameters for the 17 autosomal STR loci provided by the combination of the two types of kits used routinely in our laboratory casework: AmpF/STR Identifiler(®) and the Powerplex(®) 16 Systems. This aim was of significant importance, given that the last study on these kits within the southern Portuguese population dates back to 2006, and, as a consequence, it was necessary to correct the deviation caused by population evolution over the last ten years so that they might be better applied to our forensic casework. For this reason genetic data from 5362 unrelated Caucasian Portuguese individuals from the south of Portugal who were involved in paternity testing casework from 2005 to 2014 was used. Of all the markers, TPOX proved to be the least polymorphic, and Penta E the most. Secondly, this up-to-date southern Portuguese population was compared not only with the northern and central Portuguese populations, but also with that of southern Portugal in 2006, along with populations from Spain, Italy, Greece, Romania, Morocco, Angola and Korea in order to infer information about the relatedness of these respective populations, and the variation of the southern Portuguese population over time.

How the Body Position Can Influence High-resolution Manometry Results in the Study of Esophageal Dysphagia and Gastroesophageal Reflux Disease.

BACKGROUND/AIMS: The body position can influence esophageal motility data obtained with high-resolution manometry (HRM). To examine whether the body position influences HRM diagnoses in patients with esophageal dysphagia and gastroesophageal reflux disease (GERD). METHODS: HRM (Manoscan) was performed in 99 patients in the sitting and supine positions; 49 had dysphagia and 50 had GERD as-sessed by 24-hour pH monitoring. HRM plots were analyzed according to the Chicago classification. RESULTS: HRM results varied in the final diagnoses of the esophageal body (EB) in patients with dysphagia (P = 0.024), the result being more distal spasm and weak peristalsis while sitting. In patients with GERD, the HRM diagnoses of the lower esophageal sphinc-ter (LES), the esophagogastric junction (EGJ) morphology, and EB varied depending on the position; (P = 0.063, P = 0.017, P = 0.041 respectively). Hypotensive LES, EGJ type III (hiatal hernia), and weak peristalsis were more frequently identified in the sitting position. The reliability (kappa) of the position influencing HRM diagnoses was similar in dysphagia and GERD ("LES diagnosis": dysphagia 0.32 [0.14-0.49] and GERD 0.31 [0.10-0.52], P = 0.960; "EB diagnosis": dysphagia 0.49 [0.30-0.69] and GERD 0.39 [0.20-0.59], P = 0.480). The reliability in "EGJ morphology" studies was higher in dysphagia 0.81 (0.68-0.94) than in GERD 0.55 (0.37-0.73), P = 0.020. CONCLUSIONS: HRM results varied according to the position in patients with dysphagia and GERD. Weak peristalsis was more frequently diagnosed while sitting in dysphagia and GERD. Hypotensive LES and EGJ type III (hiatal hernia) were also more frequently diagnosed in the sitting position in patients with GERD.

Oxorhenium complexes as aldehyde-olefination catalysts.

Several oxorhenium compounds in the formal oxidation states V and VII are examined as catalysts for the aldehyde-olefination starting from diazo compounds, phosphines, and aldehydes. Of these, [ReMeO2(eta2-alkyne)] complexes provide the simplest catalysts to study, although [ReOCl3(PPh3)2] still remains the most efficient rhenium catalyst for aldehyde-olefination described to date. Prior to the reaction with the Re catalysts the phosphine and the diazo compound react to form a phosphazine. No catalytic reaction occurs in cases where no phosphazine formation is observed. The first step of the catalytic cycle involves the formation of a carbene intermediate by the reaction of phosphazine and catalyst under extrusion of phosphine oxide and dinitrogen. In a second step the carbene reacts with aldehyde under olefin formation and catalyst regeneration. Excess of alkyne as well as the presence of ketones slows down the catalytic reaction. The olefination of 4-nitrobenzaldehyde with diazomalonate is possible with these Re catalysts. In contrast, this reaction does not take place either in the classical Wittig fashion from Ph3P=C(CO2Et)2 and aldehyde or by use of all other catalysts for aldehyde olefination reactions reported to date. Catalytic ylide formation from diazo compounds seems therefore not to be the only pathway through which catalytic aldehyde-olefination reactions can proceed.