Publications by authors named "Melissa Gardner"

Article Synopsis
  • The study examines the mental health challenges faced by patients with classic congenital adrenal hyperplasia (CAH) compared to matched groups from the general population and women with type-1 diabetes mellitus (T1DM).
  • Researchers found that CAH patients showed higher rates of psychiatric issues, like depression and anxiety, than those in the general population, but similar rates to those with T1DM.
  • The findings suggest that while living with CAH contributes to mental health problems, it may intersect with issues faced by individuals managing any chronic medical condition, highlighting the need for further research on their long-term mental health outcomes.
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  • Radiation therapy (RT) for glioma can lead to neurotoxicity, and this study compares the effects of proton RT (PRT) versus photon RT (XRT) on brain imaging metrics in patients.
  • In a study of 34 patients with WHO grade 2-3 gliomas, significant ventricular volume increases were noted in both RT groups, with XRT showing greater brain volume loss (26.55%) compared to PRT (12.03%) after two years.
  • While PRT patients did not show overall cognitive decline, individual cognitive performance correlated with brain volume loss, indicating the need for further research on long-term cognitive effects following radiation treatment.
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  • - The study investigates mental health issues in individuals with complete androgen insensitivity syndrome (CAIS) and Müllerian duct aplasia/agenesis (MA), comparing their psychiatric diagnoses to typical male and female reference groups.
  • - Results show that CAIS and MA patients experience anxiety and depressive disorders at about twice the rate of male referents, with some MA patients having higher rates of bipolar disorder, particularly those with uterine agenesis.
  • - The researchers conclude that while findings are somewhat reassuring, further studies with longitudinal designs are needed to better understand mental health changes in CAIS and MA patients over time.
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Background: Disorders/Differences of Sex Development (DSD) encompass congenital conditions with atypical development of chromosomal, gonadal, or anatomical sex. Due to the rarity and complexity of these conditions, strong evidence for clinical practices is scarce, leading to controversies in management.

Objective: This study, part of a broader project, examines changes over time in the attitudes and beliefs of DSD healthcare providers, focusing on factors contributing to patients' life satisfaction and the influence of medical specialty, gender, and age.

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  • The study aimed to assess body measurement changes in patients with classic 46,XX congenital adrenal hyperplasia (CAH) and to evaluate how advances in diagnosis and treatment have influenced their growth over time.
  • Researchers conducted a retrospective cohort study analyzing 76 CAH patients and 1,102 matched individuals under 21 years old, focusing on height, weight, and BMI percentiles.
  • Findings indicated that CAH patients consistently scored lower in height percentiles compared to matched referents, with improvements noticeable following the implementation of new CAH guidelines, highlighting the need for further investigation into the mechanisms behind different growth patterns.
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Introduction: Individuals with differences of sex development (DSD) experience complex, often competing, medical and psychosocial challenges surrounding fertility. The study aimed to characterize how "success" in fertility-related care is conceptualized and attained among individuals with a DSD, their parents or caregivers, healthcare providers, and other stakeholders.

Methods: As part of a larger study, DSD stakeholders (n = 110) participated in semi-structured interviews covering the clinical care of patients with DSD.

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Background: Central nervous system (CNS) injury following brain-directed radiotherapy remains a major challenge. Proton radiotherapy (PRT) minimizes radiation to healthy brain, potentially limiting sequelae. We characterized CNS radiotoxicity, including radiation-induced leukoencephalopathy (RIL), brain tissue necrosis (TN), and cerebral microbleeds (CMB), in glioma patients treated with PRT or photons (XRT).

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Article Synopsis
  • Clinical decision-making for 46,XY disorders/differences of sex development (DSD) is still controversial, as shown in a survey of clinical specialists from various medical fields conducted over two decades.
  • The survey included responses from 429 participants (2003-2004), 435 (2010-2011), and 264 (2019-2020), exploring management recommendations for clinical scenarios involving XY newborns with conditions like micropenis and androgen insensitivity syndrome.
  • Key findings revealed a strong preference for male gender of rearing increasing over time, decreasing suggestions for female rearing, and a trend away from parental authority in surgical decision-making, alongside varied timing for surgeries based on the child's gender and condition.
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Objectives: To identify the most important attributes related to the process of achieving, and outcomes associated with, successful care for differences of sex development (DSD).

Methods: We developed a best-worst scaling survey administered to 520 DSD stakeholders, including individuals or family members of those with DSD, health care specialists, and patient support and advocacy representatives. Fourteen process-related attributes and 16 outcome-related attributes were identified through qualitative research.

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Several aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T2, n = 441), and 2020 (T3, n = 272).

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EB1 is a key cellular protein that delivers regulatory molecules throughout the cell via the tip-tracking of growing microtubule plus-ends. Thus, it is important to understand the mechanism for how EB1 efficiently tracks growing microtubule plus-ends. It is widely accepted that EB1 binds with higher affinity to GTP-tubulin subunits at the growing microtubule tip, relative to GDP-tubulin along the microtubule length.

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Introduction: Parents of infants and young children newly diagnosed with differences of sex development (DSD) commonly face medical and psychosocial management decisions at a time when they are first learning about the condition and cannot consult their child for input. The aim of this study was to identify areas of greatest need for parental decisional support.

Methods: 34 parents of children receiving care for DSD at one of three US children's hospitals participated in a survey to learn what clinical and psychosocial decisions needed to be made on behalf of their child.

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Introduction: Advocacy and human rights organizations have called for a moratorium on elective surgical procedures until the patient is able to fully participate in the decision-making process. Due to the controversial nature surrounding surgery in differences of sex development (DSD) care, we aimed to assess the factors that teens and adults with DSD, parents, healthcare providers and other allied professionals consider pertinent to complex surgical decisions in DSD.

Methods: Stakeholders (n=110) in DSD care participated in semi-structured interviews exploring features and potential determinants of successful healthcare outcomes.

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Introduction: Parents and guardians of infants and young children with differences of sex development (DSD) often face numerous health and social decisions about their child's condition. While proxy health decisions can be stressful in any circumstance, they are further exacerbated in this clinical context by significant variations in clinical presentation, parental lack of knowledge about DSD, irreversibility of some options (e.g.

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Central nervous system (CNS) radiotoxicity remains a challenge in neuro-oncology. Dose distribution advantages of protons over photons have prompted increased use of brain-directed proton therapy. While well-recognized among pediatric populations, the benefit of proton therapy among adults with CNS malignancies remains controversial.

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Accurate genome segregation in mitosis requires that all chromosomes are bioriented on the spindle. Cells monitor biorientation by sensing tension across sister centromeres. Chromosomes that are not bioriented have low centromere tension, which allows Aurora B (yeast Ipl1) to perform error correction that locally loosens kinetochore-microtubule attachments to allow detachment of microtubules and fresh attempts at achieving biorientation.

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During mitosis, sister chromatids are stretched apart at their centromeres via their attachment to oppositely oriented kinetochore microtubules. This stretching generates inwardly directed tension across the separated sister centromeres. The cell leverages this tension signal to detect and then correct potential errors in chromosome segregation, via a mechanical tension signaling pathway that detaches improperly attached kinetochores from their microtubules.

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Objective: Secrecy about a child's difference of sex development (DSD) can lead to internalized shame and stigma. We explored how teenagers and adults with DSD, parents, healthcare providers, and allied professionals value and perceive patient education.

Methods: Stakeholders (n = 110) completed qualitative semi-structured interviews.

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Despite research supporting the efficacy of weekly outpatient videoconferencing-based cognitive behavioral therapy (VCBT), limited evidence exists about the benefits of leveraging VCBT for brief intensive formats. We examined the effectiveness of an intensive outpatient VCBT targeting pediatric anxiety and OCD. Quasi-experimental design was used to compare outcomes of intensive, in-person, group-based cognitive-behavioral therapy with medication management and caregiver guidance pre-pandemic, to a similar VCBT peri-pandemic (n = 130).

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Introduction: Parents of infants born with differences in sex development (DSD) face many difficult decisions. As part of a larger project designed to develop educational interventions to promote shared decision making, this study assessed healthcare professionals' (HCPs) perceptions of parental decision-making needs when an infant is born with a DSD.

Methods: A cross-sectional web-based survey following the Ottawa Decision Support Framework was conducted in two waves, between October 2020 and June 2022.

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Purpose: The 'DSD Pathways' study was initiated to assess health status and patterns of care among people enrolled in large integrated healthcare systems and diagnosed with conditions comprising the broad category of disorders (differences) of sex development (DSD). The objectives of this communication are to describe methods of cohort ascertainment for two specific DSD conditions-classic congenital adrenal hyperplasia with 46,XX karyotype (46,XX CAH) and complete androgen insensitivity syndrome (CAIS).

Participants: Using electronic health records we developed an algorithm that combined diagnostic codes, clinical notes, laboratory data and pharmacy records to assign each cohort candidate a 'strength-of-evidence' score supporting the diagnosis of interest.

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Defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical, differences or disorders of sex development (DSDs) comprise many discrete diagnoses ranging from those associated with few phenotypic differences between affected and unaffected individuals to those where questions arise regarding gender of rearing, gonadal tumor risk, genital surgery, and fertility. Controversies exist in numerous areas including how DSDs are conceptualized, how to refer to the set of conditions and those affected by them, and aspects of clinical management that extend from social media to legislative bodies, courts of law, medicine, clinical practice, and scholarly research in psychology and sociology. In addition to these aspects, this review covers biological and social influences on psychosocial development and adjustment, the psychosocial and psychosexual adaptation of people born with DSDs, and roles for clinical psychologists in the clinical management of DSDs.

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Kinesin-14 molecular motors represent an essential class of proteins that bind microtubules and walk toward their minus-ends. Previous studies have described important roles for Kinesin-14 motors at microtubule minus-ends, but their role in regulating plus-end dynamics remains controversial. Kinesin-14 motors have been shown to bind the EB family of microtubule plus-end binding proteins, suggesting that these minus-end-directed motors could interact with growing microtubule plus-ends.

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