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Background: Several studies revealed changes in the microstructure of white matter in bipolar disorder patients. Lithium has been reported as having neuroprotective effects. However, its effect on white matter remains unclear. This systematic review aims to identify the existing clinical evidence of lithium's effect on the white matter from bipolar disorder patients. Methods: PRISMA guidelines were followed for a systematic literature review to assess the effect of lithium on the white matter of patients with bipolar disorder. From a total of 204 studies screened, 16 were included in the final systematic review. Quality assessment of the included records was assessed by the Newcastle-Ottawa scale. Results: Most studies included (13 out of 16) evaluated diffusion tensor imaging measures to assess white matter integrity. Of these, eleven reported a positive effect of lithium on the integrity of white matter of bipolar disorder patients. Two reported no effect. Two studies evaluated white matter volume. The first reported that lithium attenuates reduction of white matter volume over time, and the second reported significantly smaller white matter volume in non-lithium using patients. The last evaluated ventricular brain ratio and reported that patients treated with lithium did not have a significantly greater ventricular size than their normal control counterparts. Conclusions: Lithium appears to positively influence the evolution of the white matter abnormalities described in bipolar disorder patients. Should this information be confirmed in future research, and given its important mood stabilizer effect, it could further reinforce the use of lithium in the treatment of bipolar disorder.

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Introduction: Anatomical knowledge of the floor of the third ventricle (FTV) is essential in avoiding surgical complications during endoscopic third ventriculostomy. The purpose of this study was to characterize the morphometry of FTV and related arteries, particularly the basilar artery (BA), as well as the factors that influence it. Materials and Methods: Twenty-six formalin-fixed adult brains and two-hundred adult brain MRIs were studied focusing on FTV and related arteries. Dimensions of interest were measured using image analysis software. Morphometric data obtained was statistically analyzed. Results: Distances between FTV, intermammillary sulcus (IMS), infundibulum, BA bifurcation, and posterior communicating arteries (PCoAs) were described on the cadavers and the MRIs. Distance between right and left PCoAs was greater at their anterior extremity (p < 0.001). Right PCoA was longer (p = 0.016). BA was lateralized in 58.4% of cases and its caliber was larger in males (p < 0.001). The distance from BA apex to FTV was inversely correlated with BA diameter (p < 0.001) and age (p = 0.004). Distance from IMS to infundibulum and the distance between both PCoAs were greater in MRI series when compared to cadaver series (p < 0.001). Conclusions: A quantitative description of the morphometry of the region of the FTV and related vessels was obtained, helping neurosurgeons in planning their surgical approach. The distance from BA apex to FTV was shorter in individuals with larger BA caliber and in older subjects. MRI studies were qualitatively superior to cadaveric studies in evaluating the anatomy of this region.

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Introdução: A epilepsia, um distúrbio neurológico caraterizado por convulsões não provocadas recorrentes por excitabilidade neuronal excessiva, é primariamente atribuída a fatores genéticos, que representam 70% dos casos. O Array-comparative genomic hybridization (aCGH) é um teste genético crucial para a deteção de copy number variants (CNVs) associadas a epilepsia. Este estudo pretendeu analisar uma coorte de doentes com epilepsia com CNVs detetados por aCGH de modo a melhorar a nossa compreensão acerca dos fundamentos da epilepsia. Métodos: Um estudo retrospetivo transversal foi conduzido utilizando a base de dados aCGH do Departamento de Genética da Faculdade de Medicina da Universidade do Porto, abrangendo 146 doentes diagnosticados com epilepsia, encefalopatia epilética ou convulsões. Os dados clínicos foram colhidos e os aCGH foram conduzidos de acordo com guidelines estabelecidas. Os CNVs foram classificados com base nos standards ACMG e os doentes categorizados em quatro grupos de acordo com o seu fenótipo clínico. Resultados: Entre os 146 doentes incluídos, 94 (64%) tinham pelo menos um CNV, com 22 (15,1%) classificados como patogénicos ou provavelmente patogénicos. Os cromossomas 1, 2, 16 e X foram frequentemente implicados, sendo Xp22.33 a região mais reportada (8 CNVs). O fenótipo "Epilepsia e atraso do desenvolvimento global/défice intelectual" mostrou a maior prevalência de CNVs clinicamente relevantes. Vários CNVs foram identificados nos diferentes grupos, sugerindo potenciais papéis na epilepsia. Conclusões: Este estudo destaca a importância do aCGH no esclarecimento da base genética da epilepsia e personalização das estratégias de tratamento. Contribui com valiosas perceções para o conhecimento em expansão nesta área, enfatizando a necessidade da investigação para elucidar as diversas causas genéticas da epilepsia. / Introduction: Epilepsy, a neurological disorder characterized by recurring unprovoked seizures due to excessive neuronal excitability, is primarily attributed to genetic factors, accounting for an estimated 70 % of cases. Array-comparative genomic hybridization (aCGH) is a crucial genetic test for detecting copy number variants (CNVs) associated with epilepsy. This study aimed to analyze a cohort of epilepsy patients with CNVs detected through aCGH to enhance our understanding of the genetic underpinnings of epilepsy. Methods: A retrospective cross-sectional study was conducted using the aCGH database from the Genetics Department of the Faculty of Medicine of the University of Porto, encompassing 146 patients diagnosed with epilepsy, epileptic encephalopathy, or seizures. Clinical data were collected, and aCGH was performed following established guidelines. CNVs were classified based on ACMG standards, and patients were categorized into four groups according to their clinical phenotype. Results: Among the 146 included patients, 94 (64 %) had at least one CNV, with 22 (15.1 %) classified as pathogenic or likely pathogenic. Chromosomes 1, 2, 16, and X were frequently implicated, with Xp22.33 being the most reported region (8 CNVs). The phenotype "Epilepsy and global developmental delay/intellectual disability" showed the highest prevalence of clinically relevant CNVs. Various CNVs were identified across different groups, suggesting potential roles in epilepsy. Conclusions: This study highlights the significance of aCGH in unraveling the genetic basis of epilepsy and tailoring treatment strategies. It contributes valuable insights to the expanding knowledge in the field, emphasizing the need for research to elucidate the diverse genetic causes of epilepsy.