Adjunctive Clotiapine for the Management of Delusions in Two Adolescents with Anorexia Nervosa

open7noClotiapine is an atypical antipsychotic indicated for the management of a series of acute psychotic disorders. The current literature lacks evidence concerning the tolerability and clinical use of this drug in the management of individuals with anorexia nervosa (AN). In this study, we report two cases of adolescents with AN, treated with clotiapine. The reason for the administration of clotiapine was, for both patients, the manifestation of bizarre delusions concerning food and calories. Patient 1 presented a presyncope after the first dose of clotiapine, and treatment was rapidly discontinued. Patient 2 was treated with clotiapine for 9 months; doses were titrated from 20 mg/day to 70 mg/day, with an improvement in the reported delusions, which also enhanced compliance with psychological and nutritional interventions. EKG, QTc, white blood count, and red blood count were not relevantly influenced by the introduction of clotiapine in either patient. No extrapyramidal effect was documented. These reports stress the need for further studies assessing the tolerability and potential effect of clotiapine in treating adolescents with AN and delusional symptomatology.openJacopo Pruccoli , Giulia Joy Leone, Cristina Di Sarno, Luigi Vetri , Giuseppe Quatrosi , Michele Roccella, Antonia ParmeggianiJacopo Pruccoli , Giulia Joy Leone, Cristina Di Sarno, Luigi Vetri , Giuseppe Quatrosi , Michele Roccella, Antonia Parmeggian

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant. Methods: data on 804 pregnant women out of 2 158 (37.3%) referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study. Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9%) were identified during pregnancy and 607 (65.1%) were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01) had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established. Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered

Studio sul rilascio di metalli da PET nell'acqua minerale naturale dopo stoccaggio ed esposizione a raggi UV

La tesi sperimentale svolta presso IZSLER (Istituto Zooprofilattico Sperimentale della Lombardia e dell’Emilia Romagna) tratta la migrazione di sostanze dai MOCA (Materiali ed Oggetti a Contatto con gli Alimenti) in materiale plastico agli alimenti, in un’ottica di sicurezza alimentare. In particolare, ci si è concentrati sul rilascio di metalli e semimetalli (rispettivamente 17 e 2) nell’acqua minerale naturale confezionata in bottiglie in PET (Polietilene Tereftalato). Si sono presi in considerazione 14 marchi commerciali di acqua. In particolare, si sono studiate le variabili tempo e radiazione solare per comprendere se queste avessero effetto sul rilascio di tali metalli e semimetalli e in che misura potessero influenzarlo. Due gruppi di bottiglie, ciascuno composto dagli stessi marchi commerciali di acqua minerale naturale, sono stati posizionati e stoccati per un periodo di 8 mesi in differenti condizioni. Un gruppo è stato collocato in un armadio, al buio a temperatura ambiente, mentre l’altro è stato posizionato in ambiente esterno, esposto ai raggi UV e alle temperature ambientali. Le analisi, eseguite mediante strumentazione ICP-MS (Inductively Coupled Plasma-Mass Spectrometry), sono state svolte direttamente sull’acqua imbottigliata, all'inizio e al termine del periodo di stoccaggio, per entrambi i gruppi di campioni. È stato valutato il rilascio, per singolo elemento e per marchio commerciale, considerando le due differenti modalità di conservazione (buio e luce). I risultati ottenuti sono stati confrontati con i Limiti di Migrazione Specifica (LMS) indicata dalla normativa (Reg. (UE) 10/2011 e successive modifiche) per comprendere se i campioni analizzati risultassero conformi o meno, e sono stati commentati anche in relazione a quanto noto dalla letteratura scientifica. Un focus specifico è stato dedicato al caso dell’antimonio

The Intellectual Structure of Product Innovation. Research: A Bibliometric Study of the Journal of Product Innovation Management, 1984-2004

Product innovation research has matured substantially in the last two decades. A great deal of knowledge has been produced on various aspects of the discipline, so it is of interest to assess the state of the art the scientific community has reached in this discipline, and the route it has taken. This perspective is investigated through a bibliometric study of the Journal of Product Innovation Management (JPIM), arguably the most important specialized journal on this topic. The work reviews all journal article contributions in JPIM from 1984-2004 in determined time frames, assesses the citations contained in these articles, identifies how the citations are related to the various topics of production innovation research (topic-related citation variety, topic-related citation consistency, variation in topic-related citation pattern) and offers a retrospective examination of the evolution of the field. The overall analysis of citations shows that most articles in JPIM cite at least one of the Top 50 works identified by this study. This testifies the strong impact of the most influential works on the intellectual structure of product innovation research. The observed citation pattern suggests that the Top 50 articles gained influence in product innovation research either because they represent a relevant contribution on a fundamental topic that already has been authoritatively studied or because they investigate in a relevant manner a new topic. The article suggests that JPIM might benefit in its aim to consolidate its position as one of the top academic business journals if published articles increasingly drew on the most influential works to inform their research design, and explicitly stated the theoretical underpinnings they draw on in their research design. Overall, the analysis of the sub-periods (1984-1988, 1989-1993, 1994-1998, and 1999-2004) provides evidence for the maturation of new product innovation research. Books covering a wide range of topics are replaced by journal articles addressing a specific topic; over time, specific topics emerge and become influential for the discipline’s intellectual structure; articles published in JPIM augment their methodological rigor and increasingly address contingency factors. The article also notes that obtaining relevance for JPIM authors constitutes a necessary condition for being considered by management researchers at large as an influential contribution to product innovation research.

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome

SALL1 heterozygous pathogenic variants cause Townes–Brocks syndrome (TBS), a condition with variable clinical presentation. The main features are a stenotic or imperforate anus, dysplastic ears, and thumb malformations, and other common concerns are hearing impairments, foot malformations, and renal and heart defects. Most of the pathogenic SALL1 variants are nonsense and frameshift, likely escaping nonsense-mediated mRNA decay and causing disease via a dominant-negative mechanism. Haploinsufficiency may result in mild phenotypes, but only four families with distinct SALL1 deletions have been reported to date, with a few more being of larger size and also affecting neighboring genes. We report on a family with autosomal dominant hearing impairment and mild anal and skeletal anomalies, in whom a novel 350 kb SALL1 deletion, spanning exon 1 and the upstream region, was identified by array comparative genomic hybridization. We review the clinical findings of known individuals with SALL1 deletions and point out that the overall phenotype is milder, especially when compared with individuals who carry the recurrent p.Arg276Ter mutation, but with a possible higher risk of developmental delay. Chromosomal microarray analysis is still a valuable tool in the identification of atypical/mild TBS cases, which are likely underestimated

Food and Development: Children and Adolescents with Neurodevelopmental and Comorbid Eating Disorders—A Case Series

The impact of psychiatric comorbidities in the diagnosis and treatment of feeding and eating disorders (FEDs) represents an emerging research topic. The current literature, nonetheless, lacks studies investigating the developmental paths of individuals with FEDs and comorbid neurodevelopmental disorders (NDDs). Here, we report 11 cases of children and adolescents with comorbid FEDs and NDDs, as assessed along the neuropsychological, psychopathological, and nutritional developmental pathways. The onset of FED-related psychopathology was preceded, sometimes undiagnosed, by altered neurodevelopmental features leading to specific NDD diagnoses (autism spectrum disorder—ASD; attention-deficit/hyperactivity disorder—ADHD; specific learning disorder—SLD). NDDs appeared to influence the diagnoses and treatments of FEDs, frequently with an impact on socio-relational and emotional premorbid features, and on the possibility to receive and attend FED-targeted treatments. Further studies should longitudinally contribute to assessing the experiences of care and neurodevelopmental pathways of children with FEDs and specific NDD comorbidities