Linking gene expression patterns and brain morphometry to trauma and symptom severity in patients with functional seizures

ObjectiveAdverse life experiences (ALEs) increase the susceptibility to functional (somatoform/dissociative) symptoms, likely through neurodevelopmental effects. This analysis aimed to illuminate potential genetic influences in neuroanatomical variation related to functional symptoms and ALEs in patients with functional seizures.MethodsQuestionnaires, structural brain MRIs and Allen Human Brain Atlas gene expression information were used to probe the intersection of functional symptom severity (Somatoform Dissociation Questionnaire, SDQ-20), ALE burden, and gray matter volumes in 20 patients with functional seizures.ResultsFunctional symptom severity positively correlated with the extent of sexual trauma, emotional neglect, and threat to life experiences. In voxel-based morphometry analyses, increased SDQ-20 scores related to decreased bilateral insula, left orbitofrontal, right amygdala, and perigenual and posterior cingulate gray matter volumes. Left insula findings held adjusted for psychiatric comorbidities. Increased sexual trauma burden correlated with decreased right posterior insula and putamen volumes; increased emotional neglect related to decreased bilateral insula and right amygdala volumes. The sexual trauma–right insula/putamen and emotional neglect– right amygdala relationships held adjusting for individual differences in psychiatric comorbidities. When probing the intersection of symptom severity and sexual trauma volumetric findings, genes overrepresented in adrenergic, serotonergic, oxytocin, opioid, and GABA receptor signaling pathways were spatially correlated. This set of genes was over-expressed in cortical and amygdala development.ConclusionALEs and functional symptom severity were associated with gray matter alterations in cingulo-insular and amygdala areas. Transcriptomic analysis of this anatomical variation revealed a potential involvement of several receptor signaling pathways.

Changes In Gait Biomechanics As Functional Symptom Of Chondromalacia Patella

The goal of this research was to investigate functional and biomechanical symptoms in patients with chondromalacia patella. Material and Methods — Gait biomechanics was assessed in 35 patients with diagnosed unilateral chondromalacia patella and in 20 healthy adult controls. We recorded hip and knee movements, impact loads and temporal characteristics of the gait cycle (GC) during self-paced walking. Results — The temporal characteristics of gait and the impact loads remained normal in the patient population. Hip flexion amplitude decreased both on the affected (p=0.002) vs. unaffected (p=0.016) sides, compared to healthy control, whereas the amplitude phase increased on the affected (p=0.012) vs. unaffected (p=0.001) sides, versus healthy control. Hip extension and adduction-abduction amplitudes did not change significantly. Stance-phase and swing-phase knee flexion amplitudes did not change significantly. Knee extension amplitude on the affected limb increased (p=0.015), and knee rotation on the unaffected limb decreased versus control (p=0.016). The so-called stairstep symptom defined in the study was found in 83% of patients: in 23 patients bilaterally and in 6 patients unilaterally. Conclusion — Chondromalacia patella affected the gait biomechanics on both sides. The changes in the kinematic patterns during the flat-surface walking were not substantial. The only pathognomonic functional symptom of the condition was the stairstep symptom.

Health related quality of life analysis among testicular germ cell tumor survivors treated in a tertiary cancer hospital in India.

e16057 Background: Testicular Germ Cell Tumor (TGCT) is a highly curable malignancy treated with surgery, radiotherapy and chemotherapy. The available literature has conflicting results on quality of life (QoL) of survivors determined using various tools. There is no Indian data on QoL among TGCT patients. Methods: The study was a prospective case-control study. EORTC QLQ-C30 questionnaire were administered to survivors (last treatment completed at least 2 years back) and healthy age matched controls attending the uro-malignancy clinic of AIIMS between 1st January 2017 to 31st December 2018. The functional, symptom and global QoL scales were scored as per EORTC manual and were compared with each other using student t-test and Mann-Whitney test. The data was analysed with stata v.13.0. Results: The mean scores of all domains of functional scales and global QoL of 114 TGCT survivors were significantly worse than 100 controls except role functioning and cognitive functioning (Table). The symptom scores of cases were significantly worse for each domain except insomnia and constipation (Table). There was no difference in QoL parameters between Seminoma or Non-Seminoma or different stages of GCT. Conclusions: The QoL among TGCT survivors was significantly inferior indicating the long term physical, emotional, social, sexual and financial effects of disease and its treatment on survivors. More robust tools and studies are needed to better define QoL among survivors. ± SD of Functional, symptom and Global QoL Scales) [Table: see text]

Study Difficulty

Difficulty in concentration is a common functional symptom, and students suffering from a variety of psychiatric conditions are liable to come to the Health Service with study difficulty as their presenting complaint. It then becomes necessary to determine whether this symptom is indeed secondary to some other problem of a situational, developmental, or psychiatric nature, or whether any associated emotional distress is secondary to study difficulties deriving from poor study habits. In this paper a pragmatic distinction has been made between Primary Study Difficulty and Secondary Study Difficulty, and between various subcategories of the latter. Useful as such a classification may be it remains, like most classifications, somewhat arbitrary and artificial. In any given case it is usually possible to relate a student's presenting complaints to a variety of factors, and to discern a subtle intertwining of cognitive and emotional determinants. The diagnostic and remedial needs of students with such problems are therefore best served by a clinic which involves psychiatrists and psychologists working in close collaboration.