Autism spectrum disorder (ASD) is significantly over-represented among transgender adolescents. Independently, ASD and gender diversity are associated with increased mental health risks. Yet, mental ...health in autistic-transgender adolescents is poorly understood. This study investigates mental health in the largest matched sample to date of autistic-transgender, non-autistic (allistic) transgender, and autistic-cisgender adolescents diagnosed using gold-standard ASD diagnostic procedures. In accordance with advancing understanding of sex/gender-related autism phenotypes, slightly subthreshold autistic diagnostic presentations (common in autistic girls/women) are modeled.
This study includes 93 adolescents aged 13-21, evenly divided between autistic-transgender, autistic-cisgender, and allistic-transgender groups; 13 transgender adolescents were at the margin of ASD diagnosis and included within a larger "broad-ASD" grouping. Psychological and neuropsychological evaluation included assessment of mental health, IQ, LGBT stigma, ASD-related social symptoms, executive functioning (EF), and EF-related barriers to achieving gender-related needs.
Autistic-transgender adolescents experienced significantly greater internalizing symptoms compared to allistic-transgender and autistic-cisgender groups. In addition to stigma-related associations with mental health, ASD-related cognitive/neurodevelopmental factors (i.e., poorer EF and greater social symptoms) were associated with worse mental health: specifically, social symptoms and EF gender barriers with greater internalizing and EF problems and EF gender barriers with greater suicidality. Comparing across all ASD and gender-related groups, female gender identity was associated with greater suicidality.
Parsing the heterogeneity of mental health risks among transgender youth is critical for developing targeted assessments and interventions. This study identifies ASD diagnosis, ASD phenotypic characteristics, and EF-related gender barriers as potential risks for poorer mental health in transgender adolescents.
Gender identity is a core component of human experience, critical to account for in broad health, development, psychosocial research, and clinical practice. Yet, the psychometric characterization of ...gender has been impeded due to challenges in modeling the myriad gender self-descriptors, statistical power limitations related to multigroup analyses, and equity-related concerns regarding the accessibility of complex gender terminology. Therefore, this initiative employed an iterative multi-community-driven process to develop the Gender Self-Report (GSR), a multidimensional gender characterization tool, accessible to youth and adults, nonautistic and autistic people, and gender-diverse and cisgender individuals. In Study 1, the GSR was administered to 1,654 individuals, sampled through seven diversified recruitments to be representative across age (10-77 years), gender and sexuality diversity (∼33% each gender diverse, cisgender sexual minority, cisgender heterosexual), and autism status (>33% autistic). A random half-split subsample was subjected to exploratory factor analytics, followed by confirmatory analytics in the full sample. Two stable factors emerged: Nonbinary Gender Diversity and Female-Male Continuum (FMC). FMC was transformed to Binary Gender Diversity based on designated sex at birth to reduce collinearity with designated sex at birth. Differential item functioning by age and autism status was employed to reduce item-response bias. Factors were internally reliable. Study 2 demonstrated the construct, convergent, and ecological validity of GSR factors. Of the 30 hypothesized validation comparisons, 26 were confirmed. The GSR provides a community-developed gender advocacy tool with 30 self-report items that avoid complex gender-related "insider" language and characterize diverse populations across continuous multidimensional binary and nonbinary gender traits.
Public Significance Statement
Calibrated and validated in youth and adults, neurotypical and neurodivergent populations, and a spectrum of gender identities, the Gender Self-Report is a multidimensional gender characterization tool developed for use with diverse populations. Capturing gender profiles through simple, accessible language and characterizing simultaneously nonbinary and binary gender diversity across continuous spectra, the Gender Self-Report is designed for broad research, clinical, and services-based applications.
Executive function (EF) underlies broad health and adaptive outcomes. For transgender youth, navigating gender discernment and gender affirmation demand EF. Yet, factors associated with transgender ...youth EF are unknown. We investigate hypothesized predictors of EF: over-represented conditions among transgender youth (anxiety and depression symptoms, autism spectrum disorder ASD) and gender-affirming care. One-hundred twenty-four transgender 11−21-year-olds participated. Parents/caregivers completed EF and mental health report measures. ASD diagnostics and gender-affirming medication histories were collected. 21 % of non-autistic and 69 % of autistic transgender youth had clinically elevated EF problems. Membership in the gender-affirming hormone treatment group was associated with better EF. ASD, anxiety symptoms, and membership in the long-duration pubertal suppression group were associated with poorer EF. Given the importance of EF skills for multiple outcomes, and the unique and additional EF demands specific to transgender youths’ experiences, EF skill monitoring—and when appropriate, supports—should be considered for transgender youth.
With widespread access to antiretroviral therapy in the United States, many perinatally HIV-infected (PHIV+) children are surviving into adolescence and adulthood, becoming sexually active and making ...decisions about their reproductive health. The literature focusing on the reproductive decisions of individuals behaviorally infected with HIV can serve as a springboard for understanding the decision-making process of PHIV+ youth. Yet, there are many differences that critically distinguish reproductive health and related decision-making of PHIV+ youth. Given the potential public health implications of their reproductive decisions, better understanding of factors influencing the decision-making process is needed to help inform the development of salient treatment and prevention interventions. To begin addressing this understudied area, a “think tank” session, comprised of clinicians, medical providers, and researchers with expertise in the area of adolescent HIV, was held in Bethesda, MD, on September 21, 2011. The focus was to explore what is known about factors that influence the reproductive decision-making of PHIV+ adolescents and young adults, determine what important data are needed in order to develop appropriate intervention for PHIV+ youth having children, and to recommend future directions for the field in terms of designing and carrying out collaborative studies. In this report, we summarize the findings from this meeting. The paper is organized around the key themes that emerged, including utilizing a developmental perspective to create an operational definition of reproductive decision-making, integration of psychosocial services with medical management, and how to design future research studies. Case examples are presented and model program components proposed.
Con la nueva tendencia que se ha intensificado más en este tiempo de pandemia, la agricultura urbana como pasatiempo o autoabastecimiento va a seguir en crecimiento, por lo que se ha encontrado un ...nicho de mercado muy interesante para el desarrollo de este emprendimiento. El presente trabajo de investigación tiene como finalidad determinar la viabilidad y el mercado de un emprendimiento enfocado a la agricultura urbana específicamente brindar una plataforma web que sirve como un medio de conexión entre las personas que necesiten una fuente información verídica y soluciones de sus problemáticas en la agricultura urbana. Y para las personas que se encuentren interesadas en comenzar a plantar un medio de obtención de información y un acompañamiento para tener un huerto exitoso. Para poder sustentar este proyecto se realizaron diversos experimentos que mediante las respuestas precisas de los participantes nos permitió la mejora en todo el proceso de creación. Con el propósito de poder mantener un crecimiento constante en el negocio se estructuró diversas estrategias y acciones que nos permiten perfeccionar el modelo del negocio. Finalmente, se realizó una proyección financiera para poder estimar los gastos e ingresos de los años futuros y poder garantizar una rentabilidad. ;
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En definitiva, con este trabajo se pretende iniciar este emprendimiento con lo que podría ser una de las primeras comunidades agrícolas urbanas en el país.
With the new trend that has intensified more in this time of pandemic, urban agriculture as a hobby or self-sufficiency will continue to grow, so it has found a very interesting niche market for the development of this venture. The present research work aims to determine the viability and the market of a venture focused on urban agriculture, specifically to provide a web platform that serves as a means of connection between people who need a source of accurate information and solutions to their problems in urban agriculture. And for people who are interested in starting to plant a means of obtaining information and support to have a successful garden. In order to support this project, various experiments were carried out which, through the precise responses of the participants, allowed us to improve the whole process of creation. In order to be able to maintain a constant growth in the business, various strategies and actions were structured that allow us to perfect the business model. Finally, a financial projection was made to be able to estimate the expenses and income for future years and to be able to guarantee profitability. ;
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In short, this work aims to start this venture with what could be one of the first urban farming communities in the country.
Trabajo de investigación
Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise ...familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset familial Paget's disease of bone (PDB2), juvenile Paget's disease 2 (JPD2), and panostotic expansile bone disease (PEBD). FEO typically presents with childhood-onset deafness followed by resorption of permanent dentition, and then appendicular bone pain, fractures, and deformities from progressive focal expansile osteolytic lesions emerging from a background of generalized high bone turnover. An 18-bp duplication in TNFRSF11A has been reported in all kindreds with FEO, whereas a 12-bp duplication was found in the young man with PEBD complicated by a massive jaw tumor. We report the clinical course and successful treatment with bisphosphonates of a girl with the 12-bp duplication yet a skeletal phenotype seemingly milder than PEBD.
This 10-year-old girl presented for dental and orthodontic treatment and was found to have progressive external tooth root resorption. Speech delay was identified at age 18 months, and audiological evaluation showed both conductive and sensorineural hearing loss subsequently treated with a cochlear implant at age 3 years. Biochemical studies indicated increased bone turnover with elevated urinary N-telopeptide levels and serum alkaline phosphatase in the upper normal range. Low lumbar spine bone mineral density (BMD) was revealed by dual-energy X-ray absorptiometry, but whole-body Technetium-99 m bone scintigraphy was normal. Genetic testing identified the identical de novo 12-bp duplication within exon 1 of TNFRSF11A harbored by the young man with PEBD and massive jaw tumor. Bisphosphonate treatment, initiated with one dose of intravenous zoledronic acid that caused prolonged hypocalcemia, then comprised weekly oral alendronate that decreased bone turnover markers and normalized her BMD.
Constitutive activation of RANK signaling should be considered a possible cause in any young person with rapid bone turnover, particularly in the context of early-onset deafness and/or root resorption of permanent teeth. Early diagnosis and anti-resorptive treatment, given judiciously to avoid sudden and prolonged hypocalcemia, may prevent further skeletal disease.
•Heritable RANK activation can cause early-onset deafness and resorb permanent teeth.•12 bp TNFRSF11A duplication causes panostotic expansile bone disease.•The 12 bp TNFRSF11A duplication phenotype may resemble familial expansile osteolysis.•Bisphosphonate therapy decreases bone turnover in heritable RANK activation.•Alendronate may prevent osteolytic lesions in panostotic expansile bone disease.
Background
To prevent COVID-19 progression, low-cost alternatives that are available to all patients are needed. Diverse forms of thermotherapy have been proposed to prevent progression to ...severe/critical COVID-19.
Objective
The aim of this study is to evaluate the efficacy and safety of local thermotherapy to prevent disease progression in hospitalized adult patients with mild-to-moderate COVID-19.
Methods
A multicenter, open-label, parallel-group, randomized, adaptive trial is used to evaluate the efficacy and safety of local thermotherapy to prevent disease progression in hospitalized adult patients with mild-to-moderate COVID-19. Eligible hospitalized adult patients with symptoms of COVID-19 with ≤5 days from symptom onset, meeting criteria for mild or moderate COVID-19, were randomly assigned to the intervention consisting of local thermotherapy via an electric heat pad in the thorax (target temperature range 39.5–42°C) continuously for 90 min, twice daily, for 5 days, or standard care. The main outcome was the proportion of patients who progressed to severe-to-critical COVID-19 or death. Patients were randomized in a 1:1 ratio through a centralized computer-generated sequence of minimization with a random component of 20%. Participants and medical staff were not blinded to the intervention.
Results
One-hundred and five participants (thermotherapy
n
= 54, control
n
= 51) with a median age of 53 (IQR: 41–64) years were included for analysis after the early cessation of recruitment due to the closure of all temporal COVID-19 units (target sample size = 274). The primary outcome of disease progression occurred in 31.4% (16/51) of patients in the control group vs. 25.9% (14/54) of those receiving thermotherapy (risk difference = 5.5%; 95%CI: −11.8–22.7,
p
= 0.54). Thermotherapy was well tolerated with a median total duration of thermotherapy of 900 (IQR: 877.5–900) min. Seven (13.7%) patients in the control group and seven (12.9%) in the thermotherapy group had at least one AE (
p
= 0.9), none of which were causally attributed to the intervention. No statistically significant differences in serum cytokines (IL-1β, IL-6, IL-8, IL-10, IL-17, and IFN-γ) were observed between day 5 and baseline among groups.
Conclusion
Local thermotherapy was safe and well-tolerated. A non-statistically significant lower proportion of patients who experienced disease progression was found in the thermotherapy group compared to standard care. Local thermotherapy could be further studied as a strategy to prevent disease progression in ambulatory settings.
Clinical Trial registration
:
www.clinicaltrials.gov
, identifier: NCT04363541.
Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain ...proper nutrition. Little is known of the effects of these dietary interventions on the gut microbiome of PKU patients, particularly in adults. In this study, we sequenced the V4 region of the 16S rRNA gene from stool samples collected from adults with PKU (
= 11) and non-PKU controls (
= 21). Gut bacterial communities were characterized through measurements of diversity and taxa abundance. Additionally, metabolic imputation was performed based on detected bacteria. Gut community diversity was lower in PKU individuals, though this effect was only statistically suggestive. A total of 65 genera across 5 phyla were statistically differentially abundant between PKU and control samples (
< 0.001). Additionally, we identified six metabolic pathways that differed between groups (
< 0.05), with four enriched in PKU samples and two in controls. While the child PKU gut microbiome has been previously investigated, this is the first study to explore the gut microbiome of adult PKU patients. We find that microbial diversity in PKU children differs from PKU adults and highlights the need for further studies to understand the effects of dietary restrictions.
Abstract Background Guidelines for treatment of primary hyperparathyroidism (PHPT) in young patients recommend surgery. Outcomes of minimally invasive parathyroidectomy (MIP) are well established in ...adults, but not in pediatric patients. Objective The objective of the study is to determine effectiveness of preoperative imaging and MIP aided by intraoperative PTH (ioPTH) measurement in children with primary hyperparathyroidism (PHPT). Methods and design This is a retrospective chart review of diagnostic and follow-up data up to 12 months post-MIP of patients with PHPT who underwent parathyroidectomy at the Children's Hospital of Philadelphia between January 1, 2009 and March 31, 2015. Results Data were available for 16 of 17 patients age 8–17 years (11 females, 6 males): 2 had ectopic intrathymic adenomas while 14 had eutopic adenomas. Fifteen patients had ioPTH, including 14 who underwent MIP, defined as a 2 cm central neck incision. All patients with data at 6 months postparathyroidectomy (13/16) showed normal PTH and calcium. Ultrasound and sestamibi scans had a combined sensitivity of 87.5%. Conclusions MIP is an appropriate alternative to standard neck exploration in pediatric patients with PHPT with a single parathyroid adenoma. ioPTH is especially useful to confirm cure and limit surgical exploration when imaging studies are negative. Sestamibi scans and ultrasound are complementary studies.
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