Chapter Gli spazi della conservazione del vino: studio e rilievo delle bodegas spagnole

The 43rd UID conference, held in Genova, takes up the theme of ‘Dialogues’ as practice and debate on many fundamental topics in our social life, especially in these complex and not yet resolved times. The city of Genova offers the opportunity to ponder on the value of comparison and on the possibilities for the community, naturally focused on the aspects that concern us, as professors, researchers, disseminators of knowledge, or on all the possibile meanings of the discipline of representation and its dialogue with ‘others’, which we have broadly catalogued in three macro areas: History, Semiotics, Science / Technology. Therefore, “dialogue” as a profitable exchange based on a common language, without which it is impossible to comprehend and understand one another; and the graphic sign that connotes the conference is the precise transcription of this concept: the title ‘translated’ into signs, derived from the visual alphabet designed for the visual identity of the UID since 2017. There are many topics which refer to three macro sessions: - Witnessing (signs and history) - Communicating (signs and semiotics) - Experimenting (signs and sciences) Thanks to the different points of view, an exceptional resource of our disciplinary area, we want to try to outline the prevailing theoretical-operational synergies, the collaborative lines of an instrumental nature, the recent updates of the repertoires of images that attest and nourish the relations among representation, history, semiotics, sciences

Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers

BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Our aim was to assess the clinical relevance of apneas during sleep-wakefulness cycle in a population with RTT and the possible impact of apneas on circulating oxidative stress markers. MethodsFemale patients with a clinical diagnosis of typical RTT (n = 66), MECP2 gene mutation, and apneas were enrolled (mean age: 12.5 years). Baseline clinical severity, arterial blood gas analysis, and red blood cell count were assessed. Breathing was monitored during the wakefulness and sleep states (average recording time: 13 +/- 0.5 h) with a portable polygraphic screening device. According to prevalence of breath holdings, the population was categorized into the wakefulness apnea (WA) and sleep apnea (SA) groups, and apnea-hypopnea index (AHI) was calculated. The impact of respiratory events on oxidative stress was assessed by plasma and intra-erythrocyte non-protein-bound iron (P-NPBI and IE-NPBI, respectively), and plasma F-2-isoprostane (F-2-IsoP) assays. ResultsSignificant prevalence of obstructive apneas with values of AHI > 15 was present in 69.7% of the population with RTT. The group with SA showed significantly increased AHI values > 15 (p = 0.0032), total breath holding episodes (p = 0.007), and average SpO(2) (p = 0.0001) as well as lower nadir SpO(2) (p = 0.0004) compared with the patients with WAs. The subgroups of patients with WA and SA showed no significant differences in arterial blood gas analysis variables (p > 0.089). Decreased mean cell hemoglobin (MCH) (p = 0.038) was observed in the group with WAs. P-NPBI levels were significantly higher in the group with WA than in that with SAs (p = 0.0001). Stepwise multiple linear regression models showed WA being related to nadir SpO(2), average SpO(2), and P-NPBI (adjusted R-2 = 0.613, multiple correlation coefficient = 0.795 p < 0.0001), and P-NPBI being related to average SpO(2), blood PaCO2, red blood cell mean corpuscular volume (MCV), age, and topiramate treatment (adjusted R-2 = 0.551, multiple correlation coefficient = 0.765, p < 0.0001). ConclusionOur findings indicate that the impact of apneas in RTT is uneven according to the sleep-wakefulness cycle, and that plasma redox active iron represents a potential novel therapeutic target

Perinatal depression during the fourth wave of the COVID-19 outbreak in a single prenatal clinic in Southern Italy: The role of loneliness, anxiety, and maternal support

Background: The current study aimed at assessing the levels of perinatal depression (i.e., both antenatal and postnatal) during the fourth wave of the COVID-19 outbreak in a group of Italian women, as well as to evaluate the role of loneliness, anxiety, and lack of maternal support in cumulatively predicting perinatal depression. Methods: A cross-sectional study was conducted with 200 Italian women recruited during a peak of the COVID-19 pandemic in Italy (i.e., from September to December 2021) from a single prenatal clinic in Southern Italy. A non-parametric binomial test was conducted to assess whether the perinatal depression frequencies of the current sample differed from those found in a pre-Covid reference group. Additionally, hierarchical multiple linear regression analyses assessing whether loneliness, anxiety, and maternal support affected women's perinatal depression were also conducted. Results: The general prevalence of perinatal depression was significantly higher in participants recruited during the fourth wave of the COVID-19 pandemic compared to the pre-Covid reference group (29% vs. 9.2%). However, results showed that, contrary to postnatal depression (18.2% vs. 19.9%), only the prevalence of antenatal depression was significantly higher compared to the pre-Covid reference group (39.6% vs. 6.4%). Furthermore, loneliness and anxiety, but not maternal support, were associated with higher levels of PD. Limitations: Limitations concerned the cross-sectional nature of the study and the relatively small sample size. Conclusions: This study sheds light on the need to address perinatal mental health of women during major stressful events, such as the COVID-19 pandemic

Exploring the Question: “Does Empathy Work in the Same Way in Online and In-Person Therapeutic Settings?”

Providing remote psychotherapy using technology is a growing practice, especially since the outbreak of the COVID-19 pandemic. Even if in numerous studies video conferencing psychotherapy (VCP) was found to be clinically effective, some doubts continue to exist about how the psychotherapeutic alliance works in the online setting, and the characteristics of the empathic process are still poorly understood. This is an exploratory study aimed at analyzing the degree of empathy between the psychotherapist and client pair, and the degree of support perceived by the client who shall be referred to as the patient interchangeably in this study, comparing the sessions in person with those online, during the current pandemic, in order to discriminate the impact of empathy in the digital setting. The sample analyzed was composed of 23 patients with different severity of pathology engaged in online and in-person therapeutic sessions with five psychotherapists of different theoretical leanings. The scores of the support and empathy scale, obtained by both members of the psychotherapeutic couple in the two settings, were analyzed and compared. The test used belongs to an Italian adaptation of the Empathic Understanding (EU) of the Relationship Inventory. What emerged from comparing the scores was interesting: Unlike the psychotherapists, the patients perceived their therapists as significantly more empathic and supportive in the remote setting. These are rather important data, because the literature documents that client empathic perception measures represent a more accurate measure of the empathic relationship and, in general, can predict a good treatment outcome. Although these results need further investigation, they represent an important contribution in filling the scientific gap in the understanding of digital empathy. Also, this study provides new insights for future research on the characteristics and impact empathy has on the practice of remote psychotherapy

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status

Background: Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients. Methods: A total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7-35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L'Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients' contributions to the surrounding water vapor partial pressure [PH2O (pt)] and carbon dioxide [PCO2 (pt)] were indirectly estimated. Results: Of the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % [median: 71.86% (interquartile range 61.03-82%)] and HR/LF [median: 3.75 (interquartile range 3.19-5.05)] were elevated, independent from the wake-sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing. Conclusion: Our findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status

BackgroundSleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients.MethodsA total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7–35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L’Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients’ contributions to the surrounding water vapor partial pressure [PH2O (pt)] and carbon dioxide [PCO2 (pt)] were indirectly estimated.ResultsOf the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % [median: 71.86% (interquartile range 61.03–82%)] and HR/LF [median: 3.75 (interquartile range 3.19–5.05)] were elevated, independent from the wake–sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing.ConclusionOur findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression

Natural history of KBG syndrome in a large European cohort

KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: -0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.</p

Gli spazi della conservazione del vino: studio e rilievo delle bodegas spagnole

L’enogastromia definisce, oggigiorno, una forma alternativa di turismo, largamente diffusa e piacevolmente apprezzata da viaggiatori di ogni età. Se da un lato i tanti itinerari promossi in chiave culinaria hanno il merito di mettere in rete i grandi poli attrattori con le realtà locali meno conosciute, dall’altro ancora poco valorizzato risulta essere il rapporto fortemente identitario che i luoghi della produzione, soprattutto del vino, hanno stretto nel tempo con la storia del territorio e della sua comunità. Date le premesse, la ricerca, di cui si presenta in questa sede una prima applicazione, è stata strutturata a partire dallo studio della tradizione vitivinicola in Spagna, con particolare attenzione alla zona di Rueda e di Medina del Campo. Attraverso, poi, l’analisi tipologica delle cantine tradizionali, desunta dalle fonti disponibili, sono stati fissati i caratteri invarianti di codeste architetture, posti a confronto con gli esiti di una prima digitalizzazione e sistematizzazione dei dati relativi a due casi studio