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Loss of p57 Expression throughout Concepts Other Than Comprehensive Hydatidiform Mole: A Case Collection Using Emphasis on the actual Etiology, Genetic makeup, as well as Clinical Importance.
Diffusion-weighted imaging (DWI) has a central role in the assessment of the brain parenchyma, particularly in the context of acute stroke. However, the applications of DWI extend far beyond the brain parenchyma and include the assessment of the extra-axial structures of the head and neck that are included in routine brain imaging. In this pictorial review, the added-value of DWI over other conventional sequences is illustrated through discussion of a broad range of disorders affecting the vasculature, skull, orbits, nasal cavity and salivary glands. This article highlights the requirement for all structures, both intra- and extra-axial, to be carefully reviewed on DWI.Heterozygous variants in smooth muscle alpha-actin gene (ACTA2) are the most frequent cause of autosomal dominant hereditary thoracic aortic disease (HTAD). Several genotype-phenotype associations have been described, including a severe multisystemic smooth muscle disorder associated with de novo ACTA2 p.R179 variants, characterized by highly penetrant and early onset vascular disease, involvement of smooth muscle cell (SMC)-dependent organs and a distinct cerebrovascular phenotype. Missense variants at position 258 (p.R258C and p.R258H) have also been reported to have a more severe presentation including an increased risk for aortic dissection and a high risk of stroke. It has previously been suggested that the cerebrovascular phenotype of patients with p.R258 variants could represent a mild presentation of the cerebrovascular phenotype associated with p.R179 variants. Here we report on a five generation HTAD family with the p.R258H variant and describe the cerebrovascular findings seen in three family members, to expand on the previously reported phenotype associated with variants at this codon.Cyclin O (CCNO) is involved in cell cycle regulation and mutations of CCNO are linked to the rare genetic disease primary ciliary dyskinesia (PCD). Mutations in CCNO are associated with reduced cilia number and cilia agenesis on epithelia of the respiratory tract. This article deals with the description of two hiPSC lines generated from a PCD patient carrying a mutation in exon 1 of the CCNO gene. The lines offer a valuable tool for in vitro modeling PCD pathophysiology.The Wnt pathway co-receptor, Leucine Rich Repeat Containing G Protein-Coupled Receptor 5 (LGR5), labels tumor-prone stem cell populations in certain types of tissue. In this study, we show that ARID1A and PIK3CA mutations in LGR5+ cells result in renal angiosarcomas in adult mice. The tumors originate in the renal medulla. We further show that LGR5 labels SOX17+/CD31+/CD34+/CD133+/AQP1+/CD146+ endothelial progenitor cells within the descending vasa recta or straight arterioles of the kidney, which are specialized capillaries that maintain medullary osmotic gradients necessary for water reabsorption and the production of concentrated urine. LGR5+ endothelial progenitor cells are tightly associated with contractile pericytes within the descending vasa recta. Long-term in vivo lineage tracing revealed that LGR5+ cells give rise to renal medullary vasculature. We further show that LGR5+ cells are activated in response to ischemic kidney injury. Our findings uncover a physiologically relevant endothelial progenitor cell population within the kidney vasa recta.We examined the influence of extended exposure to a visuomotor rotation, which induces both motor adaptation and sensory recalibration, on (partial) multisensory integration in a cursor-control task. check details Participants adapted to a 30° (adaptation condition) or 0° (control condition) visuomotor rotation by making center-out movements to remembered targets. In subsequent test trials of sensory integration, they made center-out movements with variable visuomotor rotations and judged the position of hand or cursor at the end of these movements. Test trials were randomly embedded among twice the number of maintenance trials with 30° or 0° rotation. The biases of perceived hand (or cursor) position toward the cursor (or hand) position were measured. We found motor adaptation together with proprioceptive and visual recalibrations in the adaptation condition. Unexpectedly, multisensory integration was absent in both the adaptation and control condition. The absence stemmed from the extensive experience of constant visuomotor rotations of 30° or 0°, which probably produced highly precise predictions of the visual consequences of hand movements. The frequently confirmed predictions then dominated the estimate of the visual movement consequences, leaving no influence of the actual visuomotor rotations in the minority of test trials. Conversely, multisensory integration was present for sensed hand positions when these were indirectly assessed from movement characteristics, indicating that the relative weighting of discrepant estimates of hand position was different for motor control. The existence of a condition that abolishes multisensory integration while keeping sensory recalibration suggests that mechanisms that reduce sensory discrepancies (partly) differ between integration and recalibration.Previous research shows that forming memories of not only whom we have previously encountered but also the feedback of those encounters supports adaptive behavior. However, there are dynamic changes throughout childhood in declarative memory systems, leaving open the question about the precise timing for the emergence and maturation of memory for social interactions. In this study, we characterized memory for dynamic social interactions during a computerized task in children ranging between 4 and 6 years of age. Specifically, we probed memory for the characters children interacted with, the decisions they made, and the valanced-feedback from those interactions. We found that while there were differences in discriminating between old and new characters, there were no age-related differences in the ability to remember which decision a child made or the feedback from that decision when a character was successfully identified. These findings support a model by which basic foundations of social memory develop early in childhood; however, the number of social memories and the incorporation of feedback into these memories may be limited in early childhood.One of the hallmarks of ownership is the right to control one's property. Living beings thus pose an interesting puzzle for ownership, since they have some capacity to decide what happens to themselves-they can direct their own motion, pursue their own goals, and make their own decisions. Recent work has shown that adults consider this autonomy to be the key factor in determining whether a human (or human-like) being can be owned. However, little is known about how children reason about the ownership of living beings. Across three experiments we show that children (ages 4-7) use principles of control and autonomy to reason about the ownership of familiar and novel animals. At all ages tested, children were more likely to say that a typically wild animal (e.g., a bear) was owned if a homeowner had controlled its movements by putting it in a cage, rather than simply standing near it in their yard (Experiment 1). Children also used this cue of control to predict whether novel animals were owned (Experiment 2)-and for these unfamiliar animals, the effect of control was even larger. Finally, Experiment 3 found that children's judgments were not specifically driven by the use of a cage to control the animal, but also extended to animals that inherently had the ability to escape (e.g., fly or jump). These autonomous animals were judged as non-owned, while those that could not escape were judged as owned. The use of these principles was evident at all ages, but became stronger with age, particularly when considering novel animals. These are the first studies, to our knowledge, to investigate the development of reasoning about the ownership of animals, and they suggest that, like adults, children consider autonomy an essential factor in the ownership of living things.Exploration is critical for discovering how the world works. Exploration should be particularly valuable for young children, who have little knowledge about the world. Theories of decision-making describe systematic exploration as being primarily driven by top-down cognitive control, which is immature in young children. Recent research suggests that a type of systematic exploration predominates in young children's choices, despite immature control, suggesting that it may be driven by different mechanisms. We hypothesize that young children's tendency to distribute attention widely promotes elevated exploration, and that interrupting distributed attention allocation through bottom-up attentional capture would also disrupt systematic exploration. We test this hypothesis by manipulating saliency of the options in a simple choice task. Saliency disrupted systematic exploration, thus indicating that attentional mechanisms may drive children's systematic exploratory behavior. We suggest that both may be part of a larger tendency toward broad information gathering in young children.Electroconvulsive therapy (ECT) is an effective treatment for major depression. Previous studies suggested that dopaminergic neurotransmission plays a crucial role in the mechanism of the action of ECT. Since dopamine transporters (DAT) regulate extracellular dopamine concentration, DAT represents an interesting target for the study of the mechanism of action of ECT. Eight inpatients (7 patients with major depressive disorder and 1 patient with bipolar disorder with a DSM-IV diagnosis) received a series of 7-15(11.3±5.2) bilateral ECT sessions.The severity of symptoms was assessed using the 21-item Hamilton Depression Rating Scale (HDRS) and Clinical Global Impression-Severity (CGI-S). All patients were examined with [18F]FE-PE2I positron emission tomography (PET) at pre-ECT, after the 10th ECT, and at post-ECT. Striatal DAT-binding potential (BPND) of all patients was reduced, with an average change ratio of DAT-BPND of -13.1±5.6%. In the 2 cases with 15 ECT sessions, the ratio change of DAT-BPND after the 15th ECT was larger than that after the 10th ECT. Also, HDRS and CGI-S were reduced. These results indicate that the dopamine nervous system is part of themechanism of action of ECT.Bipolar disorder (BD) has been associated with impaired executive functioning and integrity of fronto-limbic white matter tracts. The evaluation of these factors in young offspring of patients with BD (BDoff) as a high-risk group offers an opportunity to investigate factors that could predict vulnerability to the disorder. This study aims to examine the correlation between neurocognition and neuroimaging findings to evaluate the potential for these findings as biomarkers for the early recognition of BD. We enrolled BDoff (n = 16) who were aged between 12 and 18. Participants were assessed using clinical and neurocognitive tests. In addition, structural brain magnetic resonance and diffusion tensor imaging data were obtained. Mean fractional anisotropy (FA) and mean diffusivity (MD) values of the superior longitudinal fasciculus (SLF) and cingulum were extracted and correlations with neuropsychological data were analyzed. FA values in the SLF were negatively correlated with Stroop interference, the Wisconsin Card Sorting Test, and the Trail Making Test (B-A) scores.
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