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Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
The interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cytometry and in vitro cytokine responses were used to characterize immune profiles from 93 school-aged twin pairs. Using an established twin pair analytical strategy, the genetic and environmental influences on immunological traits were evaluated, along with their association with atopy. Our findings suggest strong genetic influence on several traits, particularly B cell abundance. In contrast, cytokine responses from in vitro stimulations appeared mainly shaped by environmental exposures.
Sex hormones, such as oestrogen and testosterone, display significant immune modulatory properties. This is highly relevant for transgender (trans) people who undergo gender-affirming hormone (GAH) treatment. However, only a limited number of studies have evaluated the immunological impact of GAH treatments, and almost none have assessed the impact in trans young people.
Adaptive behaviour change is central to improving population health, yet poor adoption of health-enhancing behaviours contributes to noncommunicable diseases and so remains a global concern. Research on physical activity behaviour change has continued to expand and evolve since the turn of the millennium, guided by diverse theoretical approaches-from social cognitive theories, organismic dialectical approaches such as Self-Determination Theory, dual-process frameworks, and integrated practical models and taxonomies.
Language development is critical for children's life chances. Promoting parent-child interactions is suggested as one mechanism to support language development in the early years. However, limited evidence exists for a causal effect of parent-child interactions on children's language development.
Carcinogenic effects of ultraviolet radiation (UVR) with reference to skin cancer are the basis of widely implemented recommendations to avoid sun exposure. Whether the benefits of "restrictive sun policies" outweigh their potential harms due to diminished beneficial effects of sunlight exposure remain a matter of controversy.
This study investigated adherence to Indonesia's Dietary Guidelines (IDG) among lactating women, examining related factors and association with nutrient intake adequacy, maternal and infant biomarkers, body mass index, and growth. Participants were lactating women (n = 220) from urban and rural West Java, Indonesia. Dietary intake (via 3-day weighed food records), anthropometry and blood samples were assessed. Adherence was evaluated using a scoring system tailored for IDG and adapted from the Healthy Eating Index to assess intake of food groups, sugar, salt, fat, water, coffee, and breakfast habits.
Shared decision-making between patients and primary healthcare professionals positively impacts health outcomes. However, people with intellectual disability face additional barriers and require supported shared decision-making (SSDM) to participate. Little is known about how healthcare professionals use SSDM with this population. This paper explores the facilitators and barriers experienced, and strategies/resources employed by healthcare professionals working with people with intellectual disability.
CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects.
Acute rheumatic fever is an immune-mediated condition triggered by Streptococcus pyogenes sore throat and possibly skin infection, with a substantial burden in resource-limited settings. Clinical decision rules (CDRs) are commonly used to guide antibiotic treatment of sore throat based on signs and symptoms, but their diagnostic accuracy varies by study and setting. This work aimed to assess the accuracy of multiple CDRs in Fiji to diagnose S. pyogenes sore throat.