Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full mutation of the Fragile X Messenger Ribonucleoprotein-1 gene, characterized by an expansion of CGG trinucleotide repeats (>200 CGG repeats), leads to fragile X syndrome. Currently, there are no targeted treatments available for fragile X syndrome.
View Article and Find Full Text PDFJ Strength Cond Res
September 2024
Morris, SJ, Oliver, JL, Pedley, JS, Radnor, JM, Haff, GG, Cooper, S-M, and Lloyd, RS. Kinetic predictors of weightlifting performance in young weightlifters. J Strength Cond Res 38(9): 1551-1560, 2024-Relationships between force-generating capabilities and weightlifting performance ( e.
View Article and Find Full Text PDFParental factors, including negative parenting practices (e.g., family conflict, low monitoring), parental depression, and parental substance use, are associated with externalizing behaviors among youth.
View Article and Find Full Text PDFRes Child Adolesc Psychopathol
November 2023
Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed mental health disorder in childhood, however, there is well-established heterogeneity in both the presentation of ADHD symptoms and secondary characteristics across the literature. Existing Diagnostic and Statistical Manual of Mental Disorders (DSM-5) nosology has been ineffective in explaining such heterogeneity in terms of both pathophysiology and clinical trajectories. The current study investigated ADHD heterogeneity via a biologically-based, data-driven approach (k-Means algorithm).
View Article and Find Full Text PDFCurr Opin Obstet Gynecol
August 2023
Purpose Of Review: Previous modeling data suggest ovarian conservation up to age 65 for women without adnexal disease and at average risk of ovarian cancer because of an increase in mortality associated with ovarian removal. Recent modeling data challenges this practice. This review of recent literature will update providers regarding consideration for oophorectomy at time of benign hysterectomy.
View Article and Find Full Text PDFBackground: Link worker social prescribing enables health-care professionals to address patients' non-medical needs by linking patients into various services. Evidence for its effectiveness and how it is experienced by link workers and clients is lacking.
Objectives: To evaluate the impact and costs of a link worker social prescribing intervention on health and health-care costs and utilisation and to observe link worker delivery and patient engagement.
Study Objective: To study the incidence of intrauterine adhesions (IUAs) after hysteroscopic myomectomy. Previous studies report a range of incidence for IUAs after hysteroscopic myomectomy.
Design: A retrospective review study.
Comfort, P, Haff, GG, Suchomel, TJ, Soriano, MA, Pierce, KC, Hornsby, WG, Haff, EE, Sommerfield, LM, Chavda, S, Morris, SJ, Fry, AC, and Stone, MH. National Strength and Conditioning Association position statement on weightlifting for sports performance. J Strength Cond Res 37(6): 1163-1190, 2023-The origins of weightlifting and feats of strength span back to ancient Egypt, China, and Greece, with the introduction of weightlifting into the Olympic Games in 1896.
View Article and Find Full Text PDFAberrations in feedback learning are hypothesised to contribute to the behavioural disruptions and impairment of attention-deficit/hyperactivity disorder (ADHD). However, few studies have evaluated the relation of reward/punishment feedback and ADHD symptom severity on learning. The current study evaluates the differential effects of reward and punishment feedback on learning among adults with elevated ADHD.
View Article and Find Full Text PDFBackground And Objectives: To identify intraoperative factors during laparoscopic hysterectomy associated with postoperative opioid use and increased pain scores during the acute postoperative period.
Methods: This is a prospective survey-based cohort study at two teaching hospitals in the Boston metropolitan area. A total of 125 patients undergoing laparoscopic hysterectomy were enrolled.
Purpose Of Review: Adenomyosis has recently been associated with infertility. Relief of bleeding and pain has been demonstrated with medical and surgical therapy. Less is known about reproductive outcomes after treatment.
View Article and Find Full Text PDFThis paper uses meta-ethnography to synthesise qualitative and ethnographic studies of children's (aged 5-13) experiences of socio-material environments on their school journey. Most of the 21 papers (18 studies) identified from the systematic search were from high-income countries and used self-report qualitative methods. Our synthesis shows children can feel vulnerable, but also negotiate journeys and manage risks, enjoy shared and solitary mobility, and explore their material environments.
View Article and Find Full Text PDFBackground: Low-grade gliomas (LGGs) occurring in children can result in many different neurologic complications, including seizures. MEK inhibitors are increasingly being used to treat LGG, but their effect on associated neurologic symptoms has not been established.
Results: Here, we report a patient with neurofibromatosis type 1 (NF1), medically refractory epilepsy (MRE), and an extensive optic pathway glioma (OPG) who developed dose-dependent seizure control while being treated with selumetinib.
Objective: To evaluate sociodemographic and medical predictors of patient return to a neurofibromatosis subspecialty clinic.
Study Design: Data were collected from the Washington University Neurofibromatosis Clinical Program electronic medical records. A total of 713 subjects with initial visits to the Washington University Neurofibromatosis Clinical Program between July 1, 2005 and December 18, 2020 were included.
The COVID-19 pandemic and 'lockdown' restrictions have affected people's health and wellbeing globally. Those who are clinically vulnerable to COVID-19 mortality due to living with long term conditions (LTCs) are at greater risk of negative impacts on their health and wellbeing, and of disruption in management of their LTCs. This study explores how people with LTCs managed their health and wellbeing under social distancing restrictions and self-isolation during the first wave of the COVID-19 pandemic, and examines why some people were more able to manage than others.
View Article and Find Full Text PDFCommunity gardening is increasingly framed and promoted as a way to foster healthful behaviours, as a wellbeing practice, and as a public health tool. This paper draws on semi-structured interviews with community gardening organisers (n = 9) in the North East of England, who were engaged in translating and transforming discourses and ideas about community gardening into places and practices that people can draw benefit from. Here, community gardening can be understood as a bricolage of ideas, resources, and skills at the nexus of several influences and movements, assembled to produce a localised, everyday sort of social change.
View Article and Find Full Text PDFBackground: COVID-19 public health restrictions, such as social distancing and self-isolation, have been particularly challenging for vulnerable people with health conditions and/or complex social needs. Link worker social prescribing is widespread in the UK and elsewhere and is regarded as having the potential to provide support to vulnerable people during the pandemic. This qualitative study explores accounts of how an existing social prescribing service adapted to meet clients' needs in the first wave of the pandemic, and of how clients experienced these changes.
View Article and Find Full Text PDFBackground: Malnutrition and low muscle mass are independently associated with poor outcomes in colorectal cancer (CRC). However, tools to identify low muscle mass are limited in the clinical setting. We investigated the ability of existing malnutrition screening and assessment tools to identify low muscle mass assessed by computed tomography (CT).
View Article and Find Full Text PDFFragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal of this study was to better understand seizures in individuals with FXS using the Fragile X Online Registry with Accessible Research Database, a multisite observational study initiated in 2012 involving FXS clinics in the Fragile X Clinic and Research Consortium. Seizure data were available for 1,607 participants, mostly male (77%) and white (74.
View Article and Find Full Text PDFBackground: Weightlifting training (WLT) is commonly used to improve strength, power and speed in athletes. However, to date, WLT studies have either not compared training effects against those of other training methods, or been limited by small sample sizes, which are issues that can be resolved by pooling studies in a meta-analysis. Therefore, the objective of this systematic review with meta-analysis was to evaluate the effects of WLT compared with traditional resistance training (TRT), plyometric training (PLYO) and/or control (CON) on strength, power and speed.
View Article and Find Full Text PDFIn order to effectively evaluate complex interventions, there have been calls for the further integration of qualitative methods. Qualitative process studies of brief alcohol interventions and medicines reviews are notably lacking. This article provides a grounded example through the presentation of findings from an embedded qualitative process evaluation of a multi-site, pilot cluster RCT of a new intervention: the Medicines and Alcohol Consultation (MAC).
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