Oltre ruoli e codici: la figura del mediatore linguistico culturale nella realtà dell’accoglienza.

The aim of this paper is to present the figure of the dialogue interpreter working in the reception system, by analyzing his/her daily tasks and some problematic cases that could push him/her to make personal choices. The first chapter presents the Italian reception system and focuses on the SPRAR and its professional figures. The second chapter describes interpreters' roles, their assignments and code of ethics, whilst taking into account debates which concern some of their characteristics. The third chapter highlights four cases which are rarely taken into account by codes of ethics and may push the interpreter to come to a personal decision: the case of the in-between, the case of the interpreter who behaves as an advocate for the migrant and two cases which show how empathy can have an effect on the conversation and on the interpreters themselves. By referring to the literature of this field, different strategies are presented and analysed

Reverse Sneezing in Dogs: Observational Study in 30 Cases

Reverse sneezing (RS) is a frequent reason for veterinary consultation, but there is scarce clinical information. The aim of this study was to describe clinical characteristics in a cohort of 30 dogs with RS. Signalment, clinical features, results of diagnostic tests, final diagnosis, and evolution were retrospectively evaluated. Sex and neuter status were equally distributed into diagnosis categories. A significantly higher representation of toys (30 kg, 7%), was found. RS was the main owner concern in many of the cases (67%). Many cases presented chronic RS (60%, > 3 months), with more than one episode a week (60%). Most cases had an additional clinical respiratory sign (63%) and an unremarkable physical examination (63%). Inflammatory airway disorders were present in 57% of the cases, followed by anatomical-functional disorders (27%), and nasal/nasopharyngeal foreign bodies (10%). Two dogs (7%) remained as open diagnoses. Episodes of RS were persistent despite the treatment in 61% of the dogs with follow-up. Although some dogs manifest infrequent episodes of RS, being otherwise normal, RS should be considered a marker of potential irritation of the nasopharyngeal mucosa and should always be sufficiently investigated

Doppler Ultrasonographic Assessment of Abdominal Aortic Flow to Evaluate the Hemodynamic Relevance of Left-to-Right Shunting Patent Ductus Arteriosus in Dogs

In this multicenter, prospective, observational study, abdominal aortic flow was examined with pulsed-wave Doppler ultrasound in dogs with a left-to-right shunting patent ductus arteriosus (PDA) and in apparently healthy dogs. Forty-eight dogs with a PDA and 35 controls were included. In the dogs with a PDA, 37/48 had hemodynamically significant PDAs (hsPDAs) while 11/48 had non-hsPDAs, based on the presence or absence of echocardiographic signs of left-sided volume overload, respectively. In 12 dogs (4/35 control dogs, 7/37 dogs with an hsPDA and 1/11 dogs with a non-hsPDA), the diastole was too short to visualize the end-diastolic flow. Antegrade end-diastolic flow was observed in 30/35 controls and 6/11 dogs with a non-hsPDA. Absent end-diastolic flow was observed in 1/35 control dogs and 3/11 dogs with a non-hsPDA. Retrograde end-diastolic flow was observed in 30/37 dogs with an hsPDA and 1/11 dogs with a non-hsPDA. Twenty-one dogs (15 with an hsPDA and 6 with a non-hsPDA) were reassessed after PDA closure, and, in 19/21, end-diastolic flow was visualized: 17/19 showed an antegrade flow, 1/19 an absent flow and 1/19 a retrograde flow. Sensitivity and specificity of retrograde end-diastolic flow for detection of hsPDAs were 100% and 90%, respectively. In conclusion, ultrasonographic assessment of abdominal aortic flow was feasible in dogs with PDA. However, end-diastolic flow was not always visualized. The presence of a retrograde end-diastolic flow was an accurate finding for discriminating hsPDAs and non-hsPDAs

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Two-dimensional speckle tracking echocardiography in dogs: a focus on unexplored aspects of the technique

La ecocardiografía bidimensional (2-D) con rastreo de marcas o speckle tracking (ST) es una técnica de reciente desarrollo, introducida en medicina veterinaria como prueba adicional para la evaluación de la función cardíaca. Los experimentos llevados a cabo durante el doctorado se enfocaron en el uso de la ecocardiografía 2-D ST en perros, con el objetivo de mejorar su aplicabilidad y correcta interpretación. En primer lugar, se evaluaron los efectos de la sedación con una combinación de acepromacina (ACP; 0.02 mg/Kg) y butorfanol (BUT; 0.2 mg/Kg) sobre medidas derivadas de la ecocardiografía 2-D ST, para establecer si esta combinación puede o no considerarse adecuada para facilitar la realización de la prueba. En segundo lugar, se investigó el uso novedoso de la vista paraesternal derecha de cuatro cámaras (RP4Ch) para el análisis de deformación longitudinal del ventrículo izquierdo (VI) mediante ecocardiografía 2-D ST, para determinar si los resultados obtenidos de la proyección no habitual son fiables, y si las diferencias con la proyección estándar (vista apical izquierda de cuatro cámaras) dan la posibilidad o no de utilizar sus valores de forma intercambiable. En tercer lugar, se evaluó el efecto del software sobre strain y strain rate (SR) derivados de la ecocardiografía 2-D ST, ya que en medicina humana ha sido demostrado que estos pueden variar dependiendo del algoritmo utilizado por cada distinto software. En el primer estudio se incluyeron 18 perros adultos sanos de tamaño medio-grande. Se compararon los valores de strain longitudinal y circunferencial del VI, tanto globales como segmentarios, obtenidos antes y después de la sedación intramuscular, y la variabilidad inter-días. En el segundo estudio se incluyeron 26 perros sanos y 25 con enfermedad cardíaca. Se determinaron la fiabilidad y reproducibilidad de la RP4Ch, y se compararon los valores de strain, globales y segmentarios, y de SR global obtenidos desde la RP4Ch y desde la proyección estándar. En el tercer estudio, dos cohortes fueron examinados: 44 perros (23 sanos, 21 con enfermedad cardíaca) cuyas imágenes ecocardiográficas se obtuvieron con un ecógrafo Philips, y 40 perros (18 sanos, 22 con enfermedad cardíaca), cuyas imágenes se obtuvieron con un ecógrafo General Electric. El análisis de deformación se realizó en cada cohorte con el software específico del vendedor y con el software independiente TomTec. Se compararon los valores de strain y SR longitudinal global obtenidos con los diferentes software, y se determinó la variabilidad en las medidas. Los resultados del primer estudio indicaron que la combinación de ACP/BUT empleada es adecuada para facilitar la ecocardiografía en perros sanos, y no altera la mayoría de variables ecocardiográficas medidas. De hecho, los valores de strain global no se vieron afectados por la sedación, y solo un valor segmentario (apical lateral) disminuyó significativamente. Sin embargo, hubo reducción de presión arterial sistémica y frecuencia cardíaca, por lo que el uso de esta sedación en perros con enfermedades cardiovasculares debe ser considerado. Los resultados del segundo estudio indicaron que el análisis desde la RP4Ch es fiable, aunque puede ser invalidado en algunos perros por el movimiento fuera del sector de los segmentos apicales. Adicionalmente, los valores obtenidos desde la RP4Ch no son intercambiables con los medidos usando la proyección estándar. Los resultados del tercer estudio indicaron que la fiabilidad del análisis varía según el software empleado, a pesar del uso de imágenes de buena calidad obtenidas con velocidad de cuadro adecuada. Adicionalmente, se observaron diferencias significativas entre software, lo que sugeriría el uso cuidadoso de valores de referencia, y la comparación concienzuda de mediciones seriadas en un mismo paciente. En general, las medidas de strain longitudinal global demostraron mejor reproducibilidad que las segmentarias, o de SR.Two-dimensional (2-D) speckle tracking echocardiography (STE) is a relatively new imaging technique, introduced in veterinary medicine to aid the assessment of cardiac function. The experiments conducted during the Ph. D. focused on different aspects of 2-D STE in dogs, and aimed at improving its applicability and correct interpretation in the canine species. Firstly, the effects of a combination of acepromazine (ACP; 0.02 mg/Kg) and butorphanol (BUT; 0.2 mg/Kg) on 2-D STE-derived strain values were evaluated, to establish whether this combination would be adequate to facilitate echocardiography. Secondly, the use of the right parasternal four-chamber (RP4Ch) view for the assessment of left ventricular (LV) longitudinal strain and strain rate (SR) by 2-D STE, usually performed on left apical four-chamber (LAp4Ch) views, was investigated. Thirdly, the intersoftware variability of longitudinal global strain and SR measurements derived from 2-D STE was assessed, as differences have been demonstrated in human medicine. In the first study, 18 healthy middle and large-sized adult dogs were evaluated. Left ventricular circumferential and longitudinal global and segmental strains were derived via 2-D STE, and comparison between parameters, obtained prior to and after sedation was performed. Between-day measurement variability was also assessed. In the second study, 26 healthy dogs and 25 dogs with various cardiac diseases were examined. Longitudinal global and segmental strains and global SR of the LV were obtained through 2-D STE by use of RP4Ch and LAp4Ch views. Feasibility and reproducibility of the RP4Ch view were investigated, and strain and SR values obtained from the two views were compared. In the third study, echocardiographic images were obtained from two cohorts of dogs. The first cohort included 44 dogs (23 cardiovascularly healthy, 21 with cardiac disease), imaged with a Philips ultrasound system, while the second cohort included 40 dogs (18 cardiovascularly healthy, 22 with cardiac disease), imaged with a General Electric ultrasound system. Echocardiographic images in each cohort were analyzed with vendor specific 2-D STE software, and with TomTec vendor independent software. Global longitudinal strain and SR values obtained with different software from the same LAp4Ch views were compared. Intra- and inter-observer variability was determined, and intersoftware agreement assessed. The results of the first study indicated that the combination of ACP and BUT employed, administered intramuscularly, provides adequate sedation to facilitate echocardiography in healthy dogs, with only a minor influence on 2-D STE variables. In fact, global strain values were not affected by sedation, and only one segmental (apical lateral) strain value decreased significantly. However, systemic arterial pressure and heart rate also decreased, and use of the same sedation protocol in cardiovascularly diseased dogs should be considered with care as undesirable effects could occur. The results of the second study indicated that the RP4Ch view is feasible to measure the variables aforementioned. However, out-of-sector motion of the apical segments can invalidate strain data in some dogs. Furthermore, significant differences between the values obtained from this view and the LAp4Ch view were found, and therefore they should not be used interchangeably. The results of the third study indicated that feasibility is not uniform across software methods, despite the use of good quality images and relatively high frame rate. Furthermore, significant differences among software were found for strain and SR measurements. Therefore, care should be taken when referring to published ranges of normality, or comparing serial measurements in the same patient. Overall, the experiments showed a high reproducibility of longitudinal global measurements, superior to that of segmental strains and global SR

Reverse Sneezing in Dogs: Observational Study in 30 Cases

Reverse sneezing (RS) is a frequent reason for veterinary consultation, but there is scarce clinical information. The aim of this study was to describe clinical characteristics in a cohort of 30 dogs with RS. Signalment, clinical features, results of diagnostic tests, final diagnosis, and evolution were retrospectively evaluated. Sex and neuter status were equally distributed into diagnosis categories. A significantly higher representation of toys (30 kg, 7%), was found. RS was the main owner concern in many of the cases (67%). Many cases presented chronic RS (60%, > 3 months), with more than one episode a week (60%). Most cases had an additional clinical respiratory sign (63%) and an unremarkable physical examination (63%). Inflammatory airway disorders were present in 57% of the cases, followed by anatomical-functional disorders (27%), and nasal/nasopharyngeal foreign bodies (10%). Two dogs (7%) remained as open diagnoses. Episodes of RS were persistent despite the treatment in 61% of the dogs with follow-up. Although some dogs manifest infrequent episodes of RS, being otherwise normal, RS should be considered a marker of potential irritation of the nasopharyngeal mucosa and should always be sufficiently investigated