The impact of puberty on the onset, frequency, location, and severity of attacks in hereditary angioedema due to C1-inhibitor deficiency: A survey from the Italian Network for Hereditary and Acquired Angioedema (ITACA)

IntroductionHereditary angioedema due to C1-inhibitor deficiency is influenced by hormonal factors, with a more severe course of disease in women. Our study aims to deepen the impact of puberty on onset, frequency, location and severity of attacks.MethodsRetrospective data were collected through a semi-structured questionnaire and shared by 10 Italian reference centers of the Italian Network for Hereditary and Acquired Angioedema (ITACA).ResultsThe proportion of symptomatic patients increased significantly after puberty (98.2% vs 83.9%, p=0.002 in males; 96.3% vs 68,4%, p<0.001 in females); the monthly mean of acute attacks was significantly higher after puberty, and this occurred both in females (median (IQR) = 0.41(2) in the three years before puberty vs 2(2.17) in the three years after, p<0.001) and in males (1(1.92) vs 1.25(1.56) respectively, p<0.001). The increase was greater in females. No significant differences were detected in attack location before and after puberty.DiscussionOverall, our study confirms previous reports on a more severe phenotype in the female gender. Puberty predisposes to increased numbers of angioedema attacks, in particular in female patients

Varicella: epidemiological aspects and vaccination coverage in the Veneto Region

<p>Abstract</p> <p>Background</p> <p>With the control of many infections through national vaccination programmes, varicella is currently the most widespread preventable childhood disease in industrialized nations. In 2005 varicella vaccination was added to the Veneto Region routine immunization schedule for all children at 14 months of age and 12 year-old susceptible adolescents through an active and a free of charge offer. To evaluate parameters at the start of the programme, we conducted a study to describe the epidemiology of varicella infection and coverage rates for varicella vaccine in the Veneto Region (North-East Italy).</p> <p>Methods</p> <p>We examined incidence rates and median age of case patients in the Veneto Region for 2000-2007 period using two data sources: the mandatory notification of infections diseases and the Italian Paediatric Sentinel Surveillance System of Vaccine Preventable Diseases. Corrected coverage rates were calculated from data supplied by the Public Health and Screening Section of the Regional Department for Prevention.</p> <p>Results</p> <p>In the Veneto Region from 2000 to 2007, a total of 99,351 varicella cases were reported through mandatory notifications, mostly in children under 15 years of age. The overall standardised annual incidence ranged from 2.0 to 3.3 per 1,000 population, with fluctuations from year to year. The analysis by geographic area showed a similar monthly incidence rate in Italy and in the Veneto Region. The vaccination average adherence rate was 8.2% in 2004 cohort, 63.5% in 2005 cohort and 86.5% in 2006 cohort. Corrected coverage rates were 8.1% in 2004 cohort, 59.9% in 2005 cohort and 70.0% in 2006 cohort, respectively.</p> <p>Conclusion</p> <p>Data from passive and active surveillance systems confirm that varicella is a common disease which each year affects a large proportion of the population, mainly children. Uptake of the varicella vaccination programme was strikingly good with average coverage rates of about 70% after only 3 years. Sustained implementation of existing vaccine policies is needed to warrant any significant reduction of varicella incidence in the Veneto Region. Continued surveillance will be important to monitor the impact of the recently introduced mass vaccination policy.</p

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

A first update on mapping the human genetic architecture of COVID-19

peer reviewe

The role of elective and emergency cesarean delivery in maternal postpartum anhedonia, anxiety, and depression.

Objective: To compare levels of anhedonia, anxiety, and depression in women following elective and emergency cesarean delivery. Methods: An observational study was conducted between January 1, 2015, and May 31, 2017, among Italian women who delivered healthy neonates at term at the Policlinico Abano Terme, Italy, by vaginal, elective cesarean delivery (ElCD) or emergency cesarean (EmCD) delivery. The women completed the Edinburgh Postnatal Depression Scale (EPDS), including specific factors within each category, 2 days postdelivery to measure postpartum depressive symptomatology. Results: Of the 2234 women enrolled in the study, 1702 (76.2%) had a vaginal delivery and 532 (23.8%) a cesarean delivery, of which 264 (11.8%) were emergency and 268 (12.0%) were elective. Mean EPDS scores (P=0.075) and the number of women with EPDS scores >12 (P=0.718) were comparable among the delivery groups. However, mean anxiety factor scores were significantly higher in the ElCD group (P=0.031), and conversely, mean anhedonia factor scores were significantly higher in the EmCD group (P=0.001). Conclusion: Postpartum depressive symptomatology of women who have had a cesarean delivery was characterized by higher levels of anxiety after ElCD and by higher levels of anhedonia after EmCD

A Comparison of Different Topic Modeling Methods through a Real Case Study of Italian Customer Care

The paper deals with the analysis of conversation transcriptions between customers and agents in a call center of a customer care service. The objective is to support the analysis of text transcription of human-to-human conversations, to obtain reports on customer problems and complaints, and on the way an agent has solved them. The aim is to provide customer care service with a high level of efficiency and user satisfaction. To this aim, topic modeling is considered since it facilitates insightful analysis from large documents and datasets, such as a summarization of the main topics and topic characteristics. This paper presents a performance comparison of four topic modeling algorithms: (i) Latent Dirichlet Allocation (LDA); (ii) Non-negative Matrix Factorization (NMF); (iii) Neural-ProdLDA (Neural LDA) and Contextualized Topic Models (CTM). The comparison study is based on a database containing real conversation transcriptions in Italian Natural Language. Experimental results and different topic evaluation metrics are analyzed in this paper to determine the most suitable model for the case study. The gained knowledge can be exploited by practitioners to identify the optimal strategy and to perform and evaluate topic modeling on Italian natural language transcriptions of human-to-human conversations. This work can be an asset for grounding applications of topic modeling and can be inspiring for similar case studies in the domain of customer care quality

Gestational weight gain and eating-related disorders

This prospective cohort study took place at the Division of Perinatal Medicine of Policlinico Abano Terme, Italy, from January to November 2018. In the second day postpartum, 463 healthy at term puerperae, 122 (26.35%) with inadequate gestational weight gain (GWG), 210 (45.46%) with adequate GWG, and 131 (28.29%) with excessive GWG, were studied by EAT-26, through distinguishing three factors: ‘Dieting’, ‘Bulimia and food preoccupation’, and ‘Oral control’. EAT-26 Global score increased from inadequate, to adequate, and excessive GWG puerperae, resulting significantly higher in excessive GWG group (p = .0029, Anova’s). In addition, among EAT-26 subscales ‘Dieting’ scores significantly increased from inadequate, to adequate, and to excessive GWG category women, resulting significantly higher in excessive GWG group (p = .006, Anova’s). It was found that excessive GWG is a warning indicator of unhealthy eating and ‘Dieting’ disorders. This relationship highlights the potential for interventions directed towards psychosocial support to have salutary effects upon GWG. Excessive gestational weight gain across an uncomplicated pregnancy is a warning indicator of unhealthy eating and dieting disorders.IMPACT STATEMENT What is already known on this subject? Pregnancy represents a time of rapid trimester-specific changes in body weight and size. What do the results of this study add? Excessive gestational weight gain is a warning indicator of unhealthy eating and dieting disorders. What are the implications of these findings for clinical practice and/or further research? This relationship highlights the potential for interventions directed towards psychosocial support to have salutary effects upon gestational weight gain

Pain and stress after vaginal delivery: characteristics at hospital discharge and associations with parity

The objective of this study was to characterise pre-discharge maternal pain and stress severity after vaginal delivery and associations with parity. This is a descriptive analysis with 148 women in the early post-partum period (84 primiparae and 64 secondiparae) after vaginal delivery. Pain and stress were measured by McGill Pain Questionnaire (MGPQ) and by the Psychological Stress Measure (PSM). Vaginal delivery in primiparae women was associated with MGPQ, significantly higher pain scores. Sensorial, affective and mixed pain descriptive categories were also significantly higher. Pain location involved lower abdomen, vagina and perianal area. In addition, their PSM showed a significantly higher ‘Sense of effort and confusion’ subscale scores. In conclusion, this study provides important information on the quality of care implications of hospital-to-home discharge practices in puerperae after vaginal delivery, a critical time characterised by qualitatively and quantitatively high pain and stress in primiparae.Impact statement What is already known on this subject? Pain and fatigue are the most common problems reported by women in the early postpartum period. What the results of this study add? Primiparae who delivered vaginally presented at the time of hospital-to-home discharge significantly higher pain and stress, as compared to secondiparae. Pain involved lower abdomen, vagina and perianal area, whereas the stress was quantitatively higher in the ‘sense of effort and confusion’. What the implications are of these findings for clinical practice and/or further research? Awareness of problematic pain and stress associations with parity may offer the opportunity to better support puerperae to develop maternal orientation and adjust to motherhood

Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?

Focal segmental glomerulosclerosis (FSGS) is a complex disease which describes different kinds of kidney defects, not exclusively linked with podocyte defects. Since nephrin mutation was first described in association with early-onset nephrotic syndrome (NS), many advancements have been made in understanding genetic patterns associated with FSGS. New genetic causes of FSGS have been discovered, displaying unexpected genotypes, and recognizing possible site of damage. Many recent large-scale sequencing analyses on patients affected by idiopathic chronic kidney disease (CKD), kidney failure (KF) of unknown origin, or classified as FSGS, have revealed collagen alpha IV genes, as one of the most frequent sites of pathogenic mutations. Also, recent interest in complex and systemic lysosomal storage diseases, such as Fabry disease, has highlighted GLA mutations as possible causes of FSGS. Tubulointerstitial disease, recently classified by KDIGO based on genetic subtypes, when associated with UMOD variants, may phenotypically gain FSGS features, as well as ciliopathy genes or others, otherwise leading to completely different phenotypes, but found carrying pathogenic variants with associated FSGS phenotype. Thus, glomerulosclerosis may conceal different heterogeneous conditions. When a kidney biopsy is performed, the principal objective is to provide an accurate diagnosis. The broad spectrum of phenotypic expression and genetic complexity is demonstrating that a combined path of management needs to be applied. Genetic investigation should not be reserved only to selected cases, but rather part of medical management, integrating with clinical and renal pathology records. FSGS heterogeneity should be interpreted as an interesting opportunity to discover new pathways of CKD, requiring prompt genotype-phenotype correlation. In this review, we aim to highlight how FSGS represents a peculiar kidney condition, demanding multidisciplinary management, and in which genetic analysis may solve some otherwise unrevealed idiopathic cases. Unfortunately there is not a uniform correlation between specific mutations and FSGS morphological classes, as the same variants may be identified in familial cases or sporadic FSGS/NS or manifest a variable spectrum of the same disease. These non-specific features make diagnosis challenging. The complexity of FSGS genotypes requires new directions. Old morphological classification does not provide much information about the responsible cause of disease and misdiagnoses may expose patients to immunosuppressive therapy side effects, mistaken genetic counseling, and misguided kidney transplant programs