6 research outputs found

    Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

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    Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potential treatment

    Incidence, Size and Orientation of Maxillary Sinus Septa—A Retrospective Clinical Study

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    Background: The purpose of this study is to analyze if there is any statistical correlation between the surgery’s complexity (easy to difficult—depending on the anatomical conditions) and the patient’s sex, type of edentulism, and left or right side of the maxilla. Methods: Cone beam computed tomography records of 1192 maxillary sinuses were evaluated, measured, and statistically analyzed with respect to patient sex, type of edentulism, and left or right side, taking into consideration Wen’s proposed sinus septum classification. Results: Our research suggests that most sinus augmentation procedures in patients presenting antral septum fall into the Moderate A category (31.94%) and that there is not a correlation between the surgery’s complexity (easy to difficult) and the patient’s sex, type of edentulism and left or right side of the maxilla. Conclusion: We suggest a minor modification to Wen’s classification in view of the fact that our findings revealed a combination of medio-lateral and antero-posterior septa that we could not classify in one of the existing categories

    Bone Augmentation Procedures in a Patient with Acromegaly

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    The objective of this clinical case is to evaluate if bone augmentation procedures can be successful in a patient with altered bone metabolism due to a systemic disease: acromegaly. Two guided bone regeneration procedures were made on the same patient: horizontal ridge augmentation with lateral wall approach sinus graft of the left maxilla and horizontal ridge augmentation of the front left maxilla. CBCT assessment of the new formed bone was made after a minimum of nine months and dental implants were placed. The results show that bone augmentation procedures can be successful in a patient with acromegaly, after pituitary adenoma removal, when autologous bone is not included in the grafting procedure

    Genome‐wide association study of shared liability to anxiety disorders in Army STARRS

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    Anxiety disorders (ANX), namely generalized anxiety, panic disorder, and phobias, are common, etiologically complex syndromes that show increasing prevalence and comorbidity throughout adolescence and beyond. Few genome-wide association studies (GWAS) examining ANX risk have been published and almost exclusively in individuals of European ancestry. In this study, we phenotyped participants from the Army Study To Assess Risk and Resilience in Servicemembers (STARRS) to approximate DSM-based ANX diagnoses. We factor-analyzed those to create a single dimensional anxiety score for each subject. GWAS were conducted using that score within each of three ancestral groups (EUR, AFR, LAT) and then meta-analyzed across ancestries (N(Total)=16,510). We sought to (i) replicate prior ANX GWAS findings in ANGST; (ii) determine whether results extended to other ancestry groups; and (iii) meta-analyze with ANGST for increased power to identify novel susceptibility loci. No reliable genome-wide significant SNP associations were detected in STARRS. However, SNPs within the CAMKMT gene located in region 2p21 associated with shared ANX risk in ANGST were replicated in EUR soldiers but not other ancestry groups. Combining EUR STARRS and ANGST (N=28,950) yielded a more robust 2p21 association signal (p=9.08×10(−11)). Gene-based analyses supported three genes within 2p21 and LBX1 on chromosome 10. More powerful ANX genetic studies will be required to identify further loci

    Metaphor: A Computational Perspective

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