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

Maternal Parenting and Preschoolers&rsquo; Psychosocial Adjustment: A Longitudinal Study

Previous research reported that positive parenting and parenting stress might impact children&rsquo;s psychosocial adjustment. The current longitudinal study aimed at evaluating the associations over time between mothers&rsquo; positive parenting, their parenting stress, and their preschoolers&rsquo; social&ndash;emotional competence and emotional&ndash;behavioral difficulties. Participants were 53 Italian mothers, aged between 24 and 47 years (M = 35.30, SD = 5.28) at T0, and their children (females = 51%), aged between 3 and 6 years (M = 4.48, SD = 0.84) at T0. Mothers completed self-report scales at 2 time points (with a 2-year lag). An autoregressive cross-lagged model was tested that had a good fit to the data, &chi;2(6) = 3.37 ns, CFI = 1.00, RMSEA = 0.00. The results showed that maternal positive parenting at T0 negatively predicted maternal parenting stress at T1; maternal parenting stress at T0 negatively predicted children&rsquo;s social&ndash;emotional competence at T1. Moreover, at each time point, children&rsquo;s social&ndash;emotional competence was associated positively with maternal positive parenting and negatively with maternal parenting stress; children&rsquo;s emotional&ndash;behavioral difficulties were positively associated with maternal parenting stress. The results confirm that interactions with mothers are fundamental for children&rsquo;s psychosocial adjustment. Implications for research and practice aimed at reducing parenting stress and fostering positive parenting are discussed

Maternal Parenting and Preschoolers’ Psychosocial Adjustment: A Longitudinal Study

Previous research reported that positive parenting and parenting stress might impact children’s psychosocial adjustment. The current longitudinal study aimed at evaluating the associations over time between mothers’ positive parenting, their parenting stress, and their preschoolers’ social–emotional competence and emotional–behavioral difficulties. Participants were 53 Italian mothers, aged between 24 and 47 years (M = 35.30, SD = 5.28) at T0, and their children (females = 51%), aged between 3 and 6 years (M = 4.48, SD = 0.84) at T0. Mothers completed self-report scales at 2 time points (with a 2-year lag). An autoregressive cross-lagged model was tested that had a good fit to the data, 2(6) = 3.37 ns, CFI = 1.00, RMSEA = 0.00. The results showed that maternal positive parenting at T0 negatively predicted maternal parenting stress at T1; maternal parenting stress at T0 negatively predicted children’s social–emotional competence at T1. Moreover, at each time point, children’s social–emotional competence was associated positively with maternal positive parenting and negatively with maternal parenting stress; children’s emotional–behavioral difficulties were positively associated with maternal parenting stress. The results confirm that interactions with mothers are fundamental for children’s psychosocial adjustment. Implications for research and practice aimed at reducing parenting stress and fostering positive parenting are discussed

Infertility in a patient with papillary thyroid carcinoma treated with high doses of 131-I.

Viene descritto un caso di infertilità in un paziente trattato con numerosi trattamenti con iodio radioattiv

Bilateral testicular metastases of MTC in an adult male with MEN2A syndrome: case report and review of literature

Introduction: Medullary thyroid cancer (MTC) is a rare endocrine tumor, which can be sporadic or familial, as a component of multiple endocrine neoplasia 2 (MEN2). Overall, 10% of MTC cases has already developed at presentation or will develop metastasis during follow-up. Testicular metastases are exceptional and only one case of unilateral testis' involvement by metastatic MTC has been already reported in literature. We described the first known case of asymptomatic bilateral testicular MTC metastases, discovered incidentally at testicular ultrasound performed for unrelated reasons. Case presentation: A Latin-American 32-year-old man with MEN 2A syndrome and metastatic MTC underwent andrological and urological examination due to premature ejaculation. Ultrasound imaging showed two symmetrical hypoecoic lesions involving both testis. Suspecting a bilateral testicular cancer, the patient underwent excision biopsy of both testicular lesions. Histopathology and immunoistochemical exams documented metastatic MTC of both testicular lesions. Conclusion: Beyond its rarity, testis should be considered as potential metastatic site of MTC, especially in patients with advanced disease

Dalla Ricerca alla Pratica: Letteratura e Pubblicit\ue0 - Atti di Seminario 23-24 gennaio 2020. Diretto da Rossella Elisei, Paola Puccini, Alberto Sebastiani e Anna Paola Soncini Fratta

Il volume raccoglie i contributi presentati durante il Seminario "Dalla Ricerca alla Pratica: Letteratura e Pubblicit\ue0" organizzato dal Master CLE - Culture Letterarie Europee e dal gruppo di ricerca HEAD- Humanities Entreprises Annual Dialogue - svoltosi presso l'Universit\ue0 di Bologna il 23/24 gennaio 2020. Un percorso mirato all'approfondimento delle dinamiche della comunicazione pubblicitaria costruito per rispondere all'evoluzione del cambiamento culturale in atto negli ultimi anni mostrando la ricchezza che possono offrire, come contenuti e come metodo, la letteratura e la critica letteraria. L'obiettivo \ue8 quello di fornire un punto di vista innovativo agli operatori della pubblicit\ue0 e agli studiosi di letteratura giocando sulla costruzione e sull'analisi dell'immaginario costruito grazie alla cultura letteraria. Il seminario si iscrive in un pi\uf9 ampio progetto di ricerca che si propone di sviluppare nuovi orizzonti di ricerca e professionali relativi al rapporto tra mondo del lavoro e Scienze Umane. Il volume \ue8 dedicato a professionisti della pubblicit\ue0, del marketing e dello storytelling, a ricercatori e docenti in ambito letterario, linguistico e sociologico

Aligning personal and collective interests in emerging adults during the COVID‐19 emergency in Italy

This study investigated the relations of emerging adults' personal (civic competence and interdependent self-construal) and community-based (sense of community and civic engagement) resources as predictors of appraisal of COVID-19 Public Health Emergency Management (PHEM) and attitudes toward preventing contagion in Italy. Participants were 2873 Italian emerging adults (71% females) aged 19–30 years (M = 22.67, SD = 2.82). Structural equation modeling revealed both direct and indirect positive associations among study variables. Civic competence and interdependent self-construal were related to sense of community and civic engagement behavior which, in turn, predicted appraisal of PHEM. Appraisal of PHEM in turn predicted attitudes toward preventing contagion. Overall, findings highlight the importance of examining the alignment between personal and collective interests to understand emerging adults' evaluative and attitudinal experiences during a period of crisis, such as that created by COVID-19

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.