Joint Analysis Of Psychiatric Disorders Increases Accuracy Of Risk Prediction For Schizophrenia, Bipolar Disorder, And Major Depressive Disorder

Genetic risk prediction has several potential applications in medical research and clinical practice and could be used, for example, to stratify a heterogeneous population of patients by their predicted genetic risk. However, for polygenic traits, such as psychiatric disorders, the accuracy of risk prediction is low. Here we use a multivariate linear mixed model and apply multi-trait genomic best linear unbiased prediction for genetic risk prediction. This method exploits correlations between disorders and simultaneously evaluates individual risk for each disorder. We show that the multivariate approach significantly increases the prediction accuracy for schizophrenia, bipolar disorder, and major depressive disorder in the discovery as well as in independent validation datasets. By grouping SNPs based on genome annotation and fitting multiple random effects, we show that the prediction accuracy could be further improved. The gain in prediction accuracy of the multivariate approach is equivalent to an increase in sample size of 34% for schizophrenia, 68% for bipolar disorder, and 76% for major depressive disorders using single trait models. Because our approach can be readily applied to any number of GWAS datasets of correlated traits, it is a flexible and powerful tool to maximize prediction accuracy. With current sample size, risk predictors are not useful in a clinical setting but already are a valuable research tool, for example in experimental designs comparing cases with high and low polygenic risk

Sensibility, sensation, and nerve regeneration after reconstructive genital surgery : evolving concepts in neurobiology

Background: Sensory recovery following phalloplasty aunt vaginoplasty for gender dysphoria is essential to the overall success of gender-continuing surgery. Anecdotal evidence suggests that superior reinnervation Jesuits are seen in genitoplasty compared to other peripheral nerve repair scenarios. Despite these observed differences, the quality of available literature is poor. Methods: The authors reviewed the body of English language literature regarding sensory outcomes following genitoplasty for gender confirmation. Results: The available body of literature discussing the basic science and clinical science aspects of sensory recovery following gender-confirming genitoplasty is small. Available data show that sensory recovery following vaginoplasty produces high rates of reported orgasmic ability, largely through the neoclitoris, and a neovagina with vibratory and pressure sensation similar to that of the native vagina. Phalloplasty sensory outcomes are variable, with the largest series reporting return of sensation in the neophallus that is slightly less than what is measured in control men. Erogenous sensation, including the ability to orgasm, is present in nearly all patients after several months. Conclusions: Existing series indicate that genitoplasty patients experience faster and more complete recovery than any other peripheral nerve regeneration scenarios. However, there are many potential confounding factors in assessment and reporting, and more consistent and reproducible measure endpoints measures are needed. Further research is needed to better understand both the basic science and clinical science of peripheral nerve regeneration in genitoplasty, which may change fundamental aspects of current paradigms of peripheral nerve regeneration

Isolated pediatric hemihyperplasia requiring surgical debulking of the thigh

Isolated Hemihyperplasia (IHH) is a rare disorder that results in the enlargement of a portion of a limb, a complete limb or an entire half of an individual's body. We describe an 11 year-old girl with isolated hemihyperplasia of her right upper and lower extremities, breast, and vulvar region. A mass consisting of asymmetric enlargement and fatty infiltration of the right adductor compartment was first noticed at approximately 4 years of life and progressed dramatically to severely affect her gait. We surgically debulked the thigh and resected the excess skin to restore symmetry. The patient did well postoperatively, achieved excellent cosmesis, and restoration of gait

Phalloplasty: understanding the chaos

Wide variation in overall strategies and surgical specifics for masculinizing genital surgery has created a “phalloplasty chaos” that is confusing to both surgeons and patients seeking gender confirming surgery. The purpose of this article is to review masculinizing genital confirming surgery, or “phalloplasty”, focusing on specific goals and categorizing each component of the surgical process. Experienced surgeons from several high-volume centers review and categorize the commonly employed strategies and techniques for gender confirming phalloplasty, including the permutations of approaches to cutaneous flap for phallic construction, the sequence and staging of procedures, and strategies for urethral construction. There is no clear advantage or reduction in complications associated with particular sequences of urethral and phallic reconstruction. Because no single technique or staging strategy has proven superior for gender confirming genital surgery, it is paramount that surgeons are knowledgeable of all available options and the associated advantages, disadvantages, and risks

Temporal trends in gender-affirming surgery among transgender patients in the United States

Importance: Little is known about the incidence of gender-affirming surgical procedures for transgender patients in the United States.Objectives: To investigate the incidence and trends over time of gender-affirming surgical procedures and to analyze characteristics and payer status of transgender patients seeking these operations.Design, setting, and participants: In this descriptive observational study from 2000 to 2014, data were analyzed from the National Inpatient Sample, a representative pool of inpatient visits across the United States. The initial analyses were done from June to August 2015. Patients of interest were identified by International Classification of Diseases, Ninth Revision, diagnosis codes for transsexualism or gender identity disorder. Subanalysis focused on patients with procedure codes for surgery related to gender affirmation.Main outcomes and measures: Demographics, health insurance plan, and type of surgery for patients who sought gender-affirming surgery were compared between 2000-2005 and 2006-2011, as well as annually from 2012 to 2014.Results: This study included 37 827 encounters (median [interquartile range] patient age, 38 [26-49] years) identified by a diagnosis code of transsexualism or gender identity disorder. Of all encounters, 4118 (10.9%) involved gender-affirming surgery. The incidence of genital surgery increased over time: in 2000-2005, 72.0% of patients who underwent gender-affirming procedures had genital surgery; in 2006-2011, 83.9% of patients who underwent gender-affirming procedures had genital surgery. Most patients (2319 of 4118 [56.3%]) undergoing these procedures were not covered by any health insurance plan. The number of patients seeking these procedures who were covered by Medicare or Medicaid increased by 3-fold in 2014 (to 70) compared with 2012-2013 (from 25). No patients who underwent inpatient gender-affirming surgery died in the hospital.Conclusions and relevance: Most transgender patients in this national sample undergoing inpatient gender-affirming surgery were classified as self-pay; however, an increasing number of transgender patients are being covered by private insurance, Medicare, or Medicaid. As coverage for these procedures increases, likely so will demand for qualified surgeons to perform them