scholarly journals Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene

2012 ◽  
Vol 109 (14) ◽  
pp. E851-E859 ◽  
Author(s):  
N. Jahanshad ◽  
O. Kohannim ◽  
D. P. Hibar ◽  
J. L. Stein ◽  
K. L. McMahon ◽  
...  
Neurology ◽  
1995 ◽  
Vol 45 (11) ◽  
pp. 2077-2084 ◽  
Author(s):  
C. DeCarli ◽  
D.G.M. Murphy ◽  
M. Tranh ◽  
C. L. Grady ◽  
J. V. Haxby ◽  
...  

2020 ◽  
Vol 46 (Supplement_1) ◽  
pp. S134-S134
Author(s):  
Karolina Rokita ◽  
Maria Dauvermann ◽  
Laurena Holleran ◽  
David Mothersill ◽  
Jessica Holland ◽  
...  

Abstract Background While traumatic childhood experiences have been frequently associated with adverse effects on social cognitive abilities, specifically emotion recognition, in individuals with schizophrenia (SZ) and to some degree in healthy adults also (Rokita et al., 2018), the neural mechanisms for this association remain unclear. Therefore, the main aim of this study was to explore the impact of childhood trauma on brain structures that are particularly sensitive to stress and are involved in emotion recognition processes (i.e. amygdala, hippocampus, anterior cingulate cortex (ACC)) (Cancel et al., 2019). We also investigated whether volumetric changes in these brain regions mediate the association between childhood trauma and performance on an emotion recognition task. Methods We investigated 46 patients with SZ (mean age=43.74; SD=10.94; 12 females and 34 males) and 112 healthy adults (mean age=40.13; SD=12.46; 31 females and 81 males). All participants underwent an MRI scan and completed the Childhood Trauma Questionnaire (CTQ) (Bernstein et al., 2003), which assesses the experience of trauma in childhood, including emotional abuse, physical abuse, sexual abuse, emotional neglect and physical neglect. Emotion recognition was measured with the total score on the Emotion Recognition Task (ERT) implemented in the Cambridge Neuropsychological Test Automated Battery (CANTAB) (Robbins et al., 1994). Mediation analyses were conducted to explore the direct and indirect effects of childhood trauma on emotion recognition via volumetric changes in the amygdala, hippocampus and the ACC as mediators. Results We found that patients with SZ had significantly higher scores on physical neglect (PN; p=.018) and cumulative childhood trauma (p=.049) compared to healthy participants. Patients also had significantly smaller hippocampus (p=.001), but not amygdala (p=.453) or ACC (p=.893), and performed worse on the ERT task (p<.001), compared to the healthy group. PN was significantly negatively associated with the total score on the ERT task (r=-.321, p<.001) and a smaller volume of the left ACC (r=-.161, p=.046) in all participants. Reduced volumes of the left and entire ACC appeared to mediate the association between PN and ERT task in healthy adults (β=-1.183, SE=.687, 95% [-2.701: -.079]; β=-1.176, SE=.738, 95% [-2.872: -.0162], respectively). In the patient group, only the direct association between PN and the ERT score was significant (β= -11.657, SE=3.843, 95% CI [-19.251: -4.064], p=.003). Discussion Our findings provide further evidence for the detrimental impact of childhood trauma, specifically physical neglect, on volumetric changes in the ACC region in both patients with SZ and healthy adults. Moreover, to the best of our knowledge, this is the first study to show that the ACC region may be a potential neural mediator in the association between physical neglect and the ability to recognise emotions. These findings highlight the need to develop early interventions (e.g. parenting programs) in order to minimise the occurrence of childhood adversities, hence preventing from their detrimental effects on brain structure and function in both clinical and non-clinical populations.


Author(s):  
Yuka Shiota ◽  
Izumi Matsudaira ◽  
Hikaru Takeuchi ◽  
Chiaki Ono ◽  
Hiroaki Tomita ◽  
...  

2021 ◽  
Vol 2 (12) ◽  
pp. 1062-1066
Author(s):  
Elisha Krasin ◽  
Aviram Gold ◽  
Samuel Morgan ◽  
Yaniv Warschawski

Aims Hereditary haemochromatosis is a genetic disorder that is caused by several known mutations in the human homeostatic iron regulator protein ( HFE) gene. Abnormal accumulation of iron causes a joint disease that resembles osteoarthritis (OA), but appears at a relatively younger age and is accompanied by cirrhosis, diabetes, and injury to other organs. Increased serum transferrin saturation and ferritin levels are known markers of haemochromatosis with high positive predictive values. Methods We have retrospectively analyzed the iron studies of a cohort of 2,035 patients undergoing knee joint arthroplasty due to OA. Results No patients had HFE gene C282Y, S65C, or H63D mutations testing. In total, 18 patients (2.96%) of the male cohort and 51 (3.58%) of the female cohort had pathologically increased ferritin levels that may be indicative of haemochromatosis. Seven patients (0.34%) had serum transferrin saturation above 45%. Conclusion The awareness for the diagnosis of this disorder in Orthopaedics is low and needs improvement. Osteoarthritic patients undergoing knee arthroplasty should be routinely screened for haemochromatosis by iron studies and referred to genetic testing when needed. Level of evidence: Level III - Retrospective cohort study. Cite this article: Bone Jt Open 2021;2(12):1062–1066.


2019 ◽  
Vol 42 ◽  
Author(s):  
Don Ross

AbstractUse of network models to identify causal structure typically blocks reduction across the sciences. Entanglement of mental processes with environmental and intentional relationships, as Borsboom et al. argue, makes reduction of psychology to neuroscience particularly implausible. However, in psychiatry, a mental disorder can involve no brain disorder at all, even when the former crucially depends on aspects of brain structure. Gambling addiction constitutes an example.


2019 ◽  
Vol 42 ◽  
Author(s):  
Charles R. Gallistel

Abstract Shannon's theory lays the foundation for understanding the flow of information from world into brain: There must be a set of possible messages. Brain structure determines what they are. Many messages convey quantitative facts (distances, directions, durations, etc.). It is impossible to consider how neural tissue processes these numbers without first considering how it encodes them.


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