Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report

Acute promyelocytic leukemia is a myeloid disorder that is characterized by the specific t(15;17) variant in ~98% of cases. The typical hypergranular and microgranular or hypogranular types exist, and are frequently associated with disseminated intravascular coagulopathy. Rare cases of promyelocytic leukemia-retinoic acid receptor \u3b1 (PML-RARA) fusion without the reciprocal RARA-PML have been reported in cytogenetically normal samples. Conversely, fluorescence in situ hybridization (FISH) analysis has revealed a cryptic insertion of the RARA gene into the PML gene on chromosome 15. The current study reports a unique case with a normal karyotype and molecular evidence of the PML-RARA short isoform 3-fusion transcript, with FISH analysis revealing two fusion signals on the two copies of chromosome 15, but absence of the reciprocal on the two copies of chromosome 17. This finding raised the hypothesis of chromosome 15 uniparental isodysomy as consequence of normal chromosome 15 loss and duplication of the rearranged chromosome, as supported by polymorphic loci molecular analysis. The clinical, cytogenetic and molecular characterization of this case are presented and discussed in the present study

Use of 30-Hz Accelerated iTBS in Drug-Resistant Unipolar and Bipolar Depression in a Public Healthcare Setting: A Case Series

Background: Depressive episodes, especially when resistant to pharmacotherapy, are a hard challenge to face for clinicians and a leading cause of disability worldwide. Neuromodulation has emerged as a potential therapeutic option for treatment-resistant depression (TRD), in particular transcranial magnetic stimulation (TMS). In this article, we present a case series of six patients who received TMS with an accelerated intermittent theta-burst stimulation (iTBS) protocol in a public healthcare setting. Methods: We enrolled a total number of six participants, affected by a treatment-resistant depressive episode, in either Major Depressive Disorder (MDD) or Bipolar Disorder (BD). Patients underwent an accelerated iTBS protocol, targeted to the left dorsolateral prefrontal cortex (DLPFC), 3-week-long, with a total of 6 days of overall stimulation. On each stimulation day, the participants received 3 iTBS sessions, with a 15-min pause between them. Patients were assessed by the Hamilton Rating Scale for Depression (HAM-D), the Montgomery-Asberg Depression Rating Scale (MADRS), the Hamilton Rating Scale for Anxiety (HAM-A), and the Mania Rating Scale (MRS). At baseline (T0), at the end of the second week (T1), and at the end of the cycle of stimulation (T2). Results: The rANOVA (repeated Analysis of Variance) statistics showed no significant effect of time on the rating scale scores, with a slight decrease in MADRS scores and a very slight increase in HAM-A and HAM-D scores. No manic symptoms emerged during the entire protocol. Conclusions: Although accelerated iTBS might be considered a less time-consuming strategy for TMS administration, useful in a public healthcare setting, our results in a real-word six-patient population with TRD did not show a significant effect. Further studies on wider samples are needed to fully elucidate the potential of accelerated iTBS protocols in treatment-resistant depression

Why are Depressive Individuals Indecisive? Different Modes of Rumination Account for Indecision in Non-clinical Depression

Individuals with depressive symptoms tend to adopt an abstract-analytical (A-A) rather than a concrete-experiential (C-E) mode of rumination. A large body of evidence shows that this leads to many deficits that are associated with depression (Watkins in Psychol Bull 134:163–206, 2008). In two studies, the present research examined whether indecision in a non-clinical population could also result from the mode of rumination adopted. In the first study, 174 participants completed measures of depressive symptoms, rumination, decision-making styles and indecision. The results of this study showed that indecision and one dysfunctional decision-making style (hyper-vigilance) significantly correlated with A-A rumination, even when controlling for depression. In a second study, 71 participants with mild to severe depressive symptoms (MSDs) and 49 participants with no to minimal depressive symptoms were trained to adopt either an A-A or a C-E rumination mode, and subsequently requested to make 10 choices. Consistent with the results of the first study, the results of the second study showed that participants in the A-A condition took longer to make their choice compared to participants in the C-E condition, irrespective of their level of depression. Moreover, the group of participants with MSDs experienced slightly more difficulty in decision making when they were in the A-A mode than in the C-E mode. This suggests that the A-A rumination mode could be an antecedent of indecision, whereas the C-E mode predicts its reduction. These interpretations are in line with the idea that A-A rumination is maladaptive and C-E rumination is adaptive