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1.
Ther Adv Rare Dis ; 5: 26330040241265414, 2024.
Article in English | MEDLINE | ID: mdl-39081270

ABSTRACT

The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this aim, the foundation has focused on: developing scientific resources through patient cell and animal models, providing seed funding to basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement. Projects have been prioritized across these areas of focus with an emphasis on expanding international research on KdVS, supporting translational research, establishing an international natural history study and conducting studies to assess patient priorities. With the incredible growth amongst our research and patient community in the last decade, our goal is to have our first clinical trial for KdVS in 2026.


Koolen de-Vries Syndrome: a journey from diagnosis to treatments The Koolen-de Vries Syndrome Foundation ('KdVSF') was founded in 2013 with the mission to develop treatments for all individuals diagnosed with KdVS. With this aim, we have focused on several research priorities for our community: developing cell and animal models for KdVS for our researchers to utilize for experiments, providing research grants to KdVS basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement and diversity. The KdVS research and patient community has expanded tremendously over the last decade, and there is growing excitement over the possible treatments currently being investigated amongst KdVS researchers. With our current focus on translational research and research aimed at identifying treatment strategies in KdVS patients, our goal is to have our first clinical trial for KdVS in late 2026.

3.
JAMA Pediatr ; 177(12): 1356-1358, 2023 12 01.
Article in English | MEDLINE | ID: mdl-37747718

ABSTRACT

This cross-sectional study examines online marijuana dispensaries and their age verification procedures to prevent youth access.


Subject(s)
Cannabis , Humans , Minors , Commerce
4.
Curr Opin Pediatr ; 34(6): 634-642, 2022 12 01.
Article in English | MEDLINE | ID: mdl-36226734

ABSTRACT

PURPOSE OF REVIEW: Gut health is an increasingly popular topic of discussion among scientists and the general population alike. As interest surrounding the gut microbiome grows, the accessibility to misinformation and unfounded gut health trends to youth is likely to emerge as a public health concern. The purpose of this review is to provide paediatricians with current information about the gut microbiome, as well as explanations and possible risks of the multitude of gut health trends that adolescents may be exposed to. RECENT FINDINGS: The gut microbiome is implicated in overall health by playing roles in digestion, immunity and mental health. Novel microbiome-related therapies, such as faecal microbiota transplants, and the gut-brain link show the therapeutic potential of the gut microbiome. However, unproven dietary fads and trends on social media are rampant as well, such as ginger juice shots. In addition, paediatric supplements meant to target gut health are unregulated, yet are highly marketed. Improperly applying these trends and diets may result in risks of malnutrition and body image issues for impressionable children. SUMMARY: Increased familiarity regarding the types of gut health trends and diets among young people will allow paediatricians to more effectively advise their patients about potential risks and good gut health practices. Paediatricians and caregivers serve as role models and educators with regard to children's perceptions and management of their gut and overall health.


Subject(s)
Gastrointestinal Microbiome , Malnutrition , Microbiota , Adolescent , Humans , Child , Fecal Microbiota Transplantation , Diet
5.
Telemed J E Health ; 27(6): 701-705, 2021 06.
Article in English | MEDLINE | ID: mdl-33216703

ABSTRACT

Background: Telehealth has proliferated since the 1950s, but adoption and coverage of telehealth services for the U.S. public have been slow. In response to the coronavirus disease 2019 (COVID-19) pandemic, the federal government has implemented temporary policy changes that removed barriers and catalyzed the unprecedented adoption of telehealth. Methods: To assess ambulatory teleneurology satisfaction, we analyzed postvisit questionnaire data from patients and clinicians who completed teleneurology visits during the COVID-19 pandemic at Vanderbilt University Medical Center Department of Neurology (VUMC). Results: From March 18 to May 8, 2020, VUMC completed 3,935 teleneurology visits. More than 97% of patients were very highly or highly confident in the telehealth care they received, whereas almost 99% of clinicians were very likely or somewhat likely to recommend telehealth to other clinicians. Conclusions: Teleneurology satisfaction at VUMC has been positive, and going forward, we must advance upon this unprecedented adoption of telehealth and never revert to former restrictive policies.


Subject(s)
COVID-19 , Telemedicine , Academic Medical Centers , Humans , Pandemics , SARS-CoV-2
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