S50-01 Depression and bipolar disorder: Is prevention of mania possible? Critical issues on diagnostic criteria

Diagnostic criteria for bipolar disorder in DSM IV require the occurrence of a manic or hypomanic episode. The scant appropriateness of these criteria compared with Kraepelin"s concept of manic depressive insanity has been repeatedly reported and the concept of bipolar spectrum has been proposed for more than 30 years. The negative consequences of pure adherence to operational diagnostic criteria on clinical needs are presented in terms of community epidemiology results and in terms of clinical evidences and the inadequate treatment of depressive and anxiety episodes and the risk of manic switch with antidepressant drugs are discussed.The epidemiological survey conducted in Sesto Fiorentino showed that depressive episodes in patients with subthreshold mania or hypomania were different from the clinical presentation of pure unipolar depressives episodes confirming not only the numeric impact but also qualitative differences between these groups of patients.Our clinical study where predictors of mania have been prospectively evaluated in a trans nosographic sample of outpatients demonstrated that aspects related to bipolarity predicted manic shift regardless of the diagnosis. DSM IV criteria seem not to be able to detect and describe a group of patients relevant both on epidemiological and on clinical level. These findings underline the need of a careful examination of patients treatment and validate the rule of further research in definition of mood disorders boundaries for prevention strategies

Bilateral orbital lymphoma: A diagnostic odyssey through surreal clinical and imaging features plus therapeutic implications

The paper aim was to present a case of bilateral, advanced, orbital lymphoma diagnosed in a middle aged man who was admitted in a clinical condition which almost defied reality. The entire orbito-facial region was replaced by massive ulcero-necrotic masses which completely distorted the normal anatomy, giving an alien-like resemblance of an otherwise ordinary man. The patient was submitted to several imaging examinations (head and whole body computer tomography, head MRI, laterocervical ultrasound and elastography) and surgical biopsy. The final diagnosis was stage IVB diffuse large B-cell lymphoma (DLBCL). Currently the patient is undergoing chemotherapy with astonishing response (clinically visible tumoral shrinkage).The differential diagnosis of orbital masses may be extensive, starting from inflammatory conditions, such as cellulitis, pseudotumor, sarcoidosis and finishing with metastases from lung, renal or breast cancers. However, considering the substantial tumor volume in this case and imaging aspects, lymphomatous origin was the first diagnostic verified and ultimately confirmed.The peculiarities of the case do not reside in the final diagnosis, for DLBCL is the most common form of non-Hodgkin lymphoma in middle aged men, but its debut or spread to orbits is rare, usually unilateral and diagnosed in less advanced stage

Sequencing of 15 622 gene-bearing BACs clarifies the gene-dense regions of the barley genome

Barley (Hordeum vulgare L.) possesses a large and highly repetitive genome of 5.1 Gb that has hindered the development of a complete sequence. In 2012, the International Barley Sequencing Consortium released a resource integrating whole-genome shotgun sequences with a physical and genetic framework. However, because only 6278 bacterial artificial chromosome (BACs) in the physical map were sequenced, fine structure was limited. To gain access to the gene-containing portion of the barley genome at high resolution, we identified and sequenced 15 622 BACs representing the minimal tiling path of 72 052 physical-mapped gene-bearing BACs. This generated ~1.7 Gb of genomic sequence containing an estimated 2/3 of all Morex barley genes. Exploration of these sequenced BACs revealed that although distal ends of chromosomes contain most of the gene-enriched BACs and are characterized by high recombination rates, there are also gene-dense regions with suppressed recombination. We made use of published map-anchored sequence data from Aegilops tauschii to develop a synteny viewer between barley and the ancestor of the wheat D-genome. Except for some notable inversions, there is a high level of collinearity between the two species. The software HarvEST: Barley provides facile access to BAC sequences and their annotations, along with the barley– Ae. tauschii synteny viewer. These BAC sequences constitute a resource to improve the efficiency of marker development, map-based cloning, and comparative genomics in barley and related crops. Additional knowledge about regions of the barley genome that are gene-dense but low recombination is particularly relevant.Keywords: Aegilops tauschii, Barley, centromere BACs, HarvEST:Barley, gene distribution, synteny, recombination frequency, Hordeum vulgare L., BAC sequencingThis is the publisher’s final pdf. The published article is copyrighted by the author(s) and published by John Wiley & Sons Ltd. on behalf of the Society for Experimental Biology. The published article can be found at: http://onlinelibrary.wiley.com/journal/10.1111/%28ISSN%291365-313X. Supporting information is available online at: http://onlinelibrary.wiley.com/doi/10.1111/tpj.12959/abstrac

Health System Barriers to Child Mandatory and Optional Vaccination among Ukrainian Migrants in Poland in the Context of MMR and HPV Vaccines—A Qualitative Study

Background Migrants’ access to healthcare services is limited. This study aimed to identify health system barriers to vaccination, specifically HPV/MMR vaccination among children in Ukrainian economic migrants (UMs). Methods Between December 2021–March 2022, a qualitative study of UMs living in Poland was conducted. Six focus groups were held with 53 UMs aged 15–45; in-depth interviews with 12 healthcare workers (HCWs) were also performed. A thematic analysis was conducted based on the six WHO health system building blocks. Results HCWs described gaps in integrating migrant status in accessible healthcare data which impeded active management of vaccination procedures. UMs reported that the digitization of healthcare services, intensified during the COVID-19 pandemic, reduced their access to primary care. Inadequate health information systems caused problems with the provision of credible vaccine information in translated forms, and language difficulties, experienced by both UMs and HCWs; this was enhanced by a lack of professional interpreting services. Although most UMs reported vaccinating children according to the Polish schedule, the variations in schedules across countries caused concern among UMs and increased HCWs’ uncertainty about how to interpret vaccination cards, particularly in the context of possible false certificates. UMs were affected by discrimination through HCWs. HPV was deprioritized by UMs due to misconceptions about non-mandatory vaccinations; the cost was also a barrier. Conclusions The study findings have implications for migrant vaccination delivery targeting children in Poland, and other UMs receiving countries. A concerted effort is required to improve UM’s awareness of the significance of vaccinations. Barriers to healthcare access must be recognized by policymakers. Importantly, removing the cost barrier may increase the uptake of the HPV vaccine among Ukrainian migrant adolescents

A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.

OBJECTIVES Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of grey and white matter structures. Evidence supports a progressive condition although the temporal evolution of TLE is poorly defined. This ENIGMA-Epilepsy study utilized multimodal magnetic resonance imaging (MRI) data to investigate structural alterations in TLE patients across the adult lifespan. We charted both grey and white matter changes and explored the covariance of age-related alterations in both compartments. METHODS We studied 769 TLE patients and 885 healthy controls across an age range of 17-73 years, from multiple international sites. To assess potentially non-linear lifespan changes in TLE, we harmonized data and combined median split assessments with cross-sectional sliding window analyses of grey and white matter age-related changes. Covariance analyses examined the coupling of grey and white matter lifespan curves. RESULTS In TLE, age was associated with a robust grey matter thickness/volume decline across a broad cortico-subcortical territory, extending beyond the mesiotemporal disease epicentre. White matter changes were also widespread across multiple tracts with peak effects in temporo-limbic fibers. While changes spanned the adult time window, changes accelerated in cortical thickness, subcortical volume, and fractional anisotropy (all decreased), and mean diffusivity (increased) after age 55 years. Covariance analyses revealed strong limbic associations between white matter tracts and subcortical structures with cortical regions. CONCLUSIONS This study highlights the profound impact of TLE on lifespan changes in grey and white matter structures, with an acceleration of aging-related processes in later decades of life. Our findings motivate future longitudinal studies across the lifespan and emphasize the importance of prompt diagnosis as well as intervention in patients

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM

Plasma proteome changes in cord blood samples from preterm infants

Objective: In the presented study, we aimed to systematically analyze plasma proteomes in cord blood samples from preterm infants stratified by their gestational age to identify proteins and related malfunctioning pathways at birth, possibly contributing to the complications observed among preterm infants. Study design: Preterm newborns were enrolled of three subgroups with different gestation age: newborns born ≤26 (group 1), between 27 and 28 (group 2) and between 29 and 30 (group 3) weeks of gestation, respectively, and compared to the control group of healthy, full-term newborns in respect to their plasma proteome composition. Result: Preterm delivery is associated with multiple protein abundance changes in plasma related to a plethora of processes, including inflammation and immunomodulation, coagulation, and complement activation as some key features. Conclusion: Plasma proteome analysis revealed numerous gestation-age-dependent protein abundance differences between term and preterm infants, which highlight key dysregulated pathways and potential new protein treatment targets