Explanipedia

12433 Congenital Adrenal Hyperplasia And Urogenital Surgeries Open

Catherine Nguyen, Raymond Yong, Xu Xu, Yuezhen Lin, Sheila Gunn , et al. · 2024

Disclosure: C. Nguyen: None. R. Yong: None. X. Xu: None. Y. Lin: None. S.K. Gunn: None. V. Sutton: None. N. Passoni: None. M. Axelrad: None. J. Bercaw: None. P. Georgiadis: None. P. Austin: None. M. Scheurer: None. D. Nguyen: None. L.P. Ka…

But parents need help! Pathways to caregiver mental health care in pediatric hospital settings Open

Christina G. Salley, Marni E. Axelrad, Elizabeth Fischer, Katherine B. Steuer · 2022

Objectives Research and clinical expertise have emphasized the mental health needs of parents and caregivers of medically complex children. Evidence-based interventions are available for adult mental health, including those designed specif…

The seventh international <span>RASopathies</span> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery Open

Maria Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach , et al. · 2022

RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen‐activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these…

Paternalism in DSD Management: A Real and Present Threat Open

Kristen Moryan-Blanchard, Lefkothea Karaviti, Marni E. Axelrad, Paul F. Austin, David G. Mann · 2021

In 1965, a botched circumcision left Bruce Reimer, a healthy, 8-month old XY male, with a disfigured penis. At the recommendation of Dr. John Money and physicians at Johns Hopkins, the infant was reassigned to female sex and underwent an o…

MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis Open

Kristen Moryan-Blanchard, Lefkothea Karaviti, Marni E. Axelrad · 2020

Background: XY gonadal dysgenesis is characterized by the presence of male chromosomes with atypical testes differentiation. Due to an impaired ability to make testosterone, patients are often under-virilized at birth and present with ambi…

Table of Contents, Volume 179A, Number 9, September 2019 Open

Annemarie Sommer, Louanne Hudgins, Andrea Gazzin, Diana Carli, Fabio Sirchia , et al. · 2019

Costello syndrome: Clinical phenotype, genotype, and management guidelines Open

Karen W. Gripp, Lindsey A. Morse, Marni E. Axelrad, Kathryn C. Chatfield, Aaron Chidekel , et al. · 2019

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS . Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have disti…

Fluidity models in ancient Greece and current practices of sex assignment Open

Min-Jye Chen, Bonnie McCann‐Crosby, Sheila Gunn, Paraskevi Georgiadis, Frank X. Placencia , et al. · 2017

Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome Open

David D. Schwartz, Jennifer M. Katzenstein, Eric J. Highley, Deborah L. Stabley, Katia Sol‐Church , et al. · 2017

Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism‐spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age …

Maternal Depression and Parent Management Training Outcomes Open

Jack Dempsey, Samuel D. McQuillin, Ashley M. Butler, Marni E. Axelrad · 2016

The Brief Behavioral Intervention for Preschoolers With Disruptive Behaviors: A Clinical Program Guide for Clinicians Open

Marni E. Axelrad, Stephanie Chapman · 2016

Introduction Disruptive behavior problems are the most common referral reason to behavioral health professionals among preschool-age children. Parent management training (PMT) is the primary intervention for the treatment of disruptive beh…

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