The "facie sympathique" sign in hanging: historical background, forensic review, and perspectives.

The "facie sympathique" is a vital sign first described by Etienne Martin in 1899 referring to unilateral miosis, with or without ptosis, at the opposite side from the knot in hanging. This mark is scarcely reported in legal medicine textbooks and scientific papers. Moreover, when cited, it is referred to differently from its original meaning, both as unilateral contraction (miosis) and dilatation (mydriasis) of the pupil depending on the antemortem firmness of the ligature's neck pressure in hanging with little attention to ptosis. Due to the sympathetic nervous pathway supplying the eye, the review of this ocular sign in hanging supports the importance of revitalizing the "facie sympathique" in research on lesion vitality in mechanical asphyxia.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

BACKGROUND: The recent guidelines suggest the use of genome-wide analyses, such as whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with suspected genetic conditions. However, in many realities it still provides for the execution of a multi-step pathway, thus requiring several genetic tests to end the so-called 'diagnostic odyssey'. METHODS: We reported the results of GENE Project (Genomic analysis Evaluation NEtwork): a multicentre prospective cohort study on 125 paediatric outpatients with a suspected genetic disease in which we performed first-tier trio-WES, including exome-based copy number variation analysis, in parallel to a 'traditional approach' of two/three sequential genetic tests. RESULTS: First-tier trio-WES detected a conclusive diagnosis in 41.6% of patients, way above what was found with routine genetic testing (25%), with a time-to-result of about 50 days. Notably, the study showed that 44% of WES-reached diagnoses would be missed with the traditional approach. The diagnostic rate (DR) of the two approaches varied in relation to the phenotypic class of referral and to the proportion of cases with a defined diagnostic suspect, proving the major difference for neurodevelopmental disorders. Moreover, trio-WES analysis detected variants in candidate genes of unknown significance (EPHA4, DTNA, SYNCRIP, NCOR1, TFDP1, SPRED3, EDA2R, PHF12, PPP1R12A, WDR91, CDC42BPG, CSNK1D, EIF3H, TMEM63B, RIPPLY3) in 19.4% of undiagnosed cases. CONCLUSION: Our findings represent real-practice evidence of how first-tier genome-wide sequencing tests significantly improve the DR for paediatric outpatients with a suspected underlying genetic aetiology, thereby allowing a time-saving setting of the correct management, follow-up and family planning.

The impact of catastrophic events on the sex ratio at birth: A systematic review.

OBJECTIVE: The impact of maternal stress on birth outcomes is well established in the scientific research. The sex ratio at birth (SRB), namely the ratio of male to female live births, shows significant alteration when mothers experience acute stress conditions, as proposed by the Trivers-Willard Hypothesis. We aimed to synthetize the literature on the relationship between two exogenous and catastrophic stressful events (natural disasters and epidemics) and SRB. METHODS: A systematic search was run in Scopus, PubMed, Web of Science, and Cochrane Library, until March 9, 2023. The search produced 1336 articles and 25 articles met the inclusion criteria. We found seven case-control studies and 18 observational studies. Most of studies investigated the impact of earthquakes and other natural disasters. Only seven studies examined the effect of epidemics or pandemics. RESULTS: The results of the studies seem inconsistent, as 16 studies found a decline in SRB, three found a rise, four did not record any change and two studies gave contradictory results. The period and population analyzed, the source of information, the method of variance analysis in the SRB, and the failure to assess confounding variables may have influenced the incongruence of the results. CONCLUSION: Our findings contribute to improve the knowledge about the relationship between socio-ecological factors and SRB. Future studies should investigate the mechanisms by which this relationship impacts public health, in particular the health of pregnant women and their newborn, through an accurate and consistent methodology that also includes confounding factors.

Double somatic mosaicism in Cornelia de Lange syndrome.

Post-zygotic mosaicism is a well-known biological phenomenon characterized by the presence of genetically distinct lineages of cells in the same individual due to post-zygotic de novo mutational events. It has been identified in about 13% of Cornelia de Lange (CdLS) syndrome patients with a molecular diagnosis, an unusual high frequency. Here, we report the case of a patient affected by classic CdLS harboring post-zygotic mosaicism for two different likely pathogenic variants at the same nucleotide position in NIPBL. Double somatic mosaicism has never been reported in CdLS and only rarely recognized in human diseases. Possible pathogenetic mechanisms are discussed.

Healthy orthorexia vs. orthorexia nervosa: Italian validation of the Teruel Orthorexia Scale (TOS).

PURPOSE: Orthorexia nervosa (OrNe) is a potentially pathological condition characterized by a fixation on healthy diet. An increasing number of studies have been conducted on this mental preoccupation, but the validity and reliability of some of the psychometric instruments employed in its assessment are still under debate. Among these measures, the Teruel Orthorexia Scale (TOS) seems to be promising, given that it allows to differentiate between OrNe and other non-problematic forms of interest with healthy eating, named as healthy orthorexia (HeOr). The aim of this study was to examine the psychometric properties of an Italian version of the TOS, by testing its factorial structure, internal consistency, test-retest reliability, and validity. METHOD: Through an online survey, we recruited 782 participants from different regions of Italy, asking them to complete the following self-report instruments: TOS, EHQ, EDI-3, OCI-R, and BSI-18. From the initial sample, 144 participants agreed to complete a second TOS administration 2 weeks later. RESULTS: Data confirmed the validity of the 2-correlated factors structure of the TOS. The questionnaire also showed good reliability, both in terms of internal consistency and temporal stability. With regard to the TOS validity, results showed that OrNe was significantly and positively associated with measures of psychopathology and psychological distress, while HeOr showed no correlations or negative associations with the above-mentioned measures. CONCLUSION: Based on these results, the TOS can be considered a promising measure for the assessment of both pathological and non-problematic forms of orthorexic eating behavior also in Italian population. LEVEL OF EVIDENCE: Level V, descriptive cross-sectional study.

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Introduction: Menkes disease is an X-linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by increased urinary excretion of specific N-acetyl amino acids. Case presentation: We report an infant with neurological findings such as seizures, neurodevelopmental delay and hypotonia. Metabolic screening showed low serum copper and ceruloplasmin, and increased urinary excretion of several N-acetylated amino acids. Whole-exome sequencing analysis (WES) revealed the novel de novo variant c.3642_3649dup (p.Ala1217Aspfs*2) in the ATP7A gene, leading to a diagnosis of Menkes disease, and the simultaneous presence of the homozygous ACY1 variant c.1057C>T (p.Arg353Cys) causative of Aminoacylase-1 deficiency. Conclusion: Our patient had two rare conditions with different treatment courses but overlapping clinical features. The identified novel ATP7A mutation associated with Menkes disease expands the ATP7A gene spectrum.

Rock around DYRK1A: Ethnic diversity, clinical challenges.

DYRK1A-related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome. Here we report four new patients of different ethnicity, broadening the clinical phenotype of the condition and highlighting how ethnic influences in the facial appearance could make it less recognizable.

The Role of Pre-Pandemic Mental Health Status and Personality Traits on Psychological Distress during the COVID-19 Lockdown among Italian Young Adults.

The COVID-19 pandemic imposed changes on day-to-day activities and had a detrimental psychological effect on the population, especially among vulnerable individuals, such as adolescents and young adults. The current study aimed to explore variables associated with anxiety, depressive and somatic symptoms in a sample of 608 Italian young adults aged 18 to 25. Data were collected using an online questionnaire administered two months into the COVID-19 lockdown, which explored several areas including sociodemographic information, pre-pandemic and current psychological distress, pre-pandemic and current levels of loneliness, and the traits of intolerance of uncertainty and boredom susceptibility. Results highlighted that having pre-existing mental health issues, being female, and the personality traits of intolerance to uncertainty and boredom susceptibility all played a role in the psychological distress experienced during the pandemic. COVID-19 contributed to negative impacts on young adults' mental health, highlighting the necessity to develop protective psychological intervention tailored for this vulnerable population.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of known diseases. Multiple disorders in a single patient have been estimated to occur in approximately 2-7.5% of diagnosed cases, with higher frequency in consanguineous families. Here, we report the clinical and molecular characterisation of eight illustrative patients for whom trio-WES allowed for identifing more than one genetic condition. Double homozygosity represented the causal mechanism in only half of them, whereas the other half showed peculiar multilocus combinations. The paper takes into consideration difficulties and learned lessons from our experience and therefore supports the powerful role of wide analyses for ascertaining multiple genetic diseases in complex patients, especially when a clinical suspicion could account for the majority of clinical signs. It finally makes clear how a patient's "deep phenotyping" might not be sufficient to suggest the presence of multiple genetic diagnoses but remains essential to validate an unexpected multilocus result from genetic tests.

The role of eating disorders features, psychopathology, and defense mechanisms in the comprehension of orthorexic tendencies.

PURPOSE: Recent studies pointed out the importance to distinguish orthorexia nervosa (ON) from non-problematic forms of interest with healthy eating. This distinction needs to be further explored since it may favor a better comprehension of the relationship between orthorexic behaviors and psychopathology and lead to an improved understanding of the psychological processes implicated in ON. Therefore, the aim of the current study was to investigate the associations between ON and the core features of eating disorders (EDs), psychopathological symptoms and defense mechanisms, by differentiating three groups of individuals: an ON symptoms group, a healthy-eating control group, and a normal-eating control group. METHODS: College students (n = 270, Mage = 21.57, SD = 2.16) were recruited from Palermo's University, in the south of Italy, and were assigned to three groups: 52 in the ON symptoms group, 157 in the healthy-eating control group and 61 in the normal-eating control group. Participants completed four questionnaires assessing ON (EHQ-21), eating psychopathology (EDI-3), psychopathological symptoms (BSI) and defense mechanisms (DSQ-40). RESULTS: Compared to the control groups, the ON symptoms group reported greater EDs' features, higher psychopathological symptoms and greater employment of different neurotic and immature defense mechanisms. No differences were found between groups with regard to obsessive-compulsive symptoms. CONCLUSION: Our findings support the notion that ON behaviors should be carefully distinguished from non-problematic forms of interest with healthy eating. Indeed, results suggest that ON individuals are characterized by similar clinical features and defensive functioning as those observed in traditional EDs, indicating the importance of deepening our understanding of the relationship between these conditions. LEVEL OF EVIDENCE: Level V, descriptive cross-sectional study.

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Spondylo-epi-metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eight patients of five families have been reported. The disorder is characterized by severely disproportionate short stature with a short neck, small trunk with abdominal distension, and short lower limbs. Joint laxity and bowed legs are seen. The same homozygous splicing pathogenic variant in the DDRGK1 gene was found in four Iraqi families. Here we report a homozygous missense pathogenic variant in DDRGK1 in two children from unrelated two Moroccan families. The clinical and radiological phenotypes of the affected children were similar to those previously described.

Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.

OBJECTIVES: To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies. METHODS: The two fetuses underwent prenatal ultrasound, autopsy, radiologic, and genetic investigation. Genetic analysis included karyotype and array-CGH for both fetuses and trio-based whole exome sequencing (WES) only for the second fetus. RESULTS: WES results, initially focusing on recessive or dominant de novo variants, were negative.However, as a result of new relevant information regarding family history, the variant c.648_651dup in the PTCH1 gene was identified as causative of the fetal phenotype. CONCLUSIONS: This case further highlights how WES data analysis and interpretation strongly rely on family history and robust genotype-phenotype correlation. This is even more relevant in the prenatal setting, where access to fetal phenotype is limited and prenatal recognition of many morbid genes is not fully explored. We also provide a detailed description of the prenatal manifestations of Basal Cell Nevus Syndrome.

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.

The Rubinstein-Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CREBBP) or in the E1A-associated protein p300 (EP300) genes have been demonstrated in 55% (RSTS1) and up to 8% of the patients (RSTS2), respectively. Dysfunction of immune response has been reported in a subgroup of individuals with RSTS. Here we characterize two patients carrying the same EP300 variant and distinctive RSTS features (including congenital heart abnormalities, short stature, feeding problems, and gastroesophageal reflux). Whole exome sequencing did not support a dual molecular diagnosis hypothesis. Nonetheless, patients showed distinct clinical manifestations and immunological features. The most severe phenotype was associated with reduced T-cell production and diversity. This latter feature was confirmed in a control group of four RSTS patients.

Childhood maltreatment, personality vulnerability profiles, and borderline personality disorder symptoms in adolescents.

Adverse childhood experiences are significant risk factors in the development of adolescent borderline personality disorder symptoms (BPDs). Theorists have posited that two personality vulnerabilities factors, self-criticism and dependency, may inform our understanding of this relationship. However, no research has examined the associations between early negative experiences, personality vulnerabilities, and adolescent BPDs. The current study aimed to identify profiles of dependency and self-criticism to examine the associations of these profiles with cumulative forms of childhood maltreatment (CM) and BPDs as well as to explore the mediating and moderating role of vulnerable personality profiles in the relationship between cumulative CM and BPDs. Two hundred and forty-one nonclinical and clinical adolescents participated in the study (Mage = 16.37, SD = 1.84). The findings indicated three different profiles: average dependent profile, dependent and self-critical profile, and self-critical profile. Individuals in the average dependent profile presented lower levels of CM and BPDs. Mediation analyses showed that relative to the average dependent profile, a higher cumulative CM history predicted a higher probability of belonging in the dependent and self-critical profile or the self-critical profile and, in turn, this was associated with higher levels of BPDs. No moderating effects of profiles of dependency and self-criticism were found.

Psychological factors and consumer behavior during the COVID-19 pandemic.

The COVID-19 pandemic is far more than a health crisis: it has unpredictably changed our whole way of life. As suggested by the analysis of economic data on sales, this dramatic scenario has also heavily impacted individuals' spending levels. To better understand these changes, the present study focused on consumer behavior and its psychological antecedents. Previous studies found that crises differently affect people's willingness to buy necessities products (i.e., utilitarian shopping) and non-necessities products (i.e., hedonic shopping). Therefore, in examining whether changes in spending levels were associated with changes in consumer behavior, we adopted a fine-grained approach disentangling between necessities and non-necessities. We administered an online survey to 3833 participants (age range 18-64) during the first peak period of the contagion in Italy. Consumer behavior toward necessities was predicted by anxiety and COVID-related fear, whereas consumer behavior toward non-necessities was predicted by depression. Furthermore, consumer behavior toward necessities and non-necessities was predicted by personality traits, perceived economic stability, and self-justifications for purchasing. The present study extended our understanding of consumer behavior changes during the COVID-19 pandemic. Results could be helpful to develop marketing strategies that consider psychological factors to meet actual consumers' needs and feelings.

A Five-Year Survey for Plastic Surgery Malpractice Claims in Rome, Italy.

(1) Introduction: Medical malpractice claims against both health institutions and physicians are a crucial topic in Italy, as well as in other countries, particularly regarding civil proceedings. Our study reports an analysis of all of the malpractice judgments concerning plastic surgery decided in the Civil Court of Rome between 2012 and 2016. (2) Methods: the database of the Observatory Project on Medical Responsibility (ORMe) was analyzed, which collects all of the judgments of the Civil Court of Rome, that is, the first instance district court. Therefore, neither the jurisprudence of the second level court nor that of the Supreme Court was taken into account. (3) Results: 144 judgments concerning plastic surgery were delivered in the five-year period of 2012-2016 (corresponding to 10.6% of total professional liability verdicts of the Civil Court of Rome in the same period). In 101/144 cases (70.14%), the claim was accepted. A total of €4,727,579.00 was paid in compensation for plastic surgery malpractice claims, with a range from a minimum amount of €1555.96 to a maximum amount of €1,425,155.00 and an average compensation of €46,807.71 per claim that was significantly lower compared to other surgical disciplines. (4) Conclusions: Our data confirm that the analyzed branch has a high litigation rate, with a prevalence of convictions for cosmetic procedures over reconstructive ones, both for malpractice and for violation of the informed consent. Plastic surgery is also confirmed among those branches in which the professionals are more frequently sued compared to health institutions.

The COVID-19 lockdown and psychological distress among Italian parents: Influence of parental role, parent personality, and child difficulties.

The Italian lockdown following the spread of COVID-19 exposed residents to a long and unexpected period of managing offspring at home. Throughout this time, most parents continued to work remotely. The present research aimed at assessing multiple sociodemographic and psychological variables for parental well-being during the lockdown. An online survey was administered from 6 to 11 April 2020. Respondents were 917 parents aged 23-67 years with up to six children, aged 3-13 years. The measures employed were: 14 demographic questions, the Big Five Inventory (BFI-10), the Emotional Symptoms and Hyperactivity-Inattention subscales of the Strength and Difficulties Questionnaire (SDQ-P), and the General Health Questionnaire (GHQ-12). Multiple moderated linear regression analyses were performed. Motherhood, higher levels of education, higher neuroticism, lower extroversion, and more child emotional and hyperactivity-inattention symptoms were found to be significant predictors of parent distress. Furthermore, a significant two-way interaction between child emotional problems and parent extroversion was found. Overall, parents showed high rates of psychological distress, signalling severe difficulties during the lockdown. Families with a child suffering from emotional and behavioural difficulties should immediately be detected by social services to activate support interventions to prevent chronic and amplified manifestations of these problems.

Data on the effects of COVID-19 pandemic on people's expectations about their future.

The worldwide spread of the COVID-19 pandemic has unpredictably changed the way people live, by influencing their behaviors and beliefs. This article presents the raw data that have been used to investigate how the pandemic affected people's beliefs and expectations about their future. A total of 3991 participants (18-85 years old) were recruited through an online survey using the Qualtrics platform. The data collection was carried out during the Italian lockdown, between April 1st and April 20th, 2020. This survey collected information about psychological and socioeconomic variables related to the COVID-19 emergency. Respondents filled out a battery of questionnaires that included five measures. Three of the measures were specifically developed by the authors: 1. Expected repercussions of COVID-19; 2. Forethought scale; and 3. Perceived financial resources. The two other measures were standardized questionnaires: the Zimbardo Time Perspective Inventory Short Version (ZTPI-short) and the Positive and Negative Affect Schedule (PANAS). Data from tailored measures on the COVID-19 pandemic reflect people's beliefs about the future, in terms of expectation about the pandemic's effect, estimation of the time needed for the pandemic to resolve, and estimation of how long people could endure the lockdown situation from a financial perspective. The ZTPI questionnaire was administered to measure people's differences in terms of Deviation from Balanced Time Perspective (DBTP). The PANAS questionnaire, instead, was administered to investigate people's differences in terms of emotional mood states. The provided dataset could be useful to other researchers, considering that the data were collected during the lockdown imposed on Italian citizens to face the unprecedented emergency due to the COVID-19 pandemic. Therefore, the collected data may help to understand how people coped with the pandemic, both from a psychological and socioeconomic perspective. Finally, this dataset can be included in the broad context of data, procedures, and experimental materials that have been used to expand our knowledge in the study of time perspective, beliefs, and emotions.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient's critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients' clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.

"What's next?" Individual differences in expected repercussions of the COVID-19 pandemic.

The effects of the COVID-19 pandemic on the future are hardly predictable, and people differ in terms of expected repercussions on their future. This study investigated individual differences in the pandemic's expected repercussions, with particular attention to a Balanced Time Perspective (BTP). BTP reflects an individual profile with optimal temporal orientations, it is positively associated with mental health, and it has proven to promote successful coping with unexpected crises. We analyzed data from 3991 adults from 18 to 85 years old participating in an online survey conducted during the Italian lockdown. Participants provided information on BTP, affective states, financial resources, and expectations for the future. Multi-group path analysis was used to test the hypothesized model and to explore gender differences. Results showed that people with a more BTP had fewer negative beliefs about COVID-19's consequences on their future life. BTP affected expected repercussions also indirectly, via affects and beliefs. Finally, gender emerged as a significant moderator of some of the relationships highlighted. The present study contributes to the understanding of the psychological reactions to the current health emergency by confirming its impact on several life domains besides health, not only in the present but also in the anticipated future.