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Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood and tissues. Clinically, it can present with hypercholesterolemia and xanthomas, often causing it to be misdiagnosed as familial hypercholesterolemia (FH). The diagnosis of sitosterolemia can easily be confirmed and distinguished from FH with a sterol profile and genetic investigations. Here, we report a sibship of 2 sisters with sitosterolemia initially misdiagnosed as FH. This case report illustrates the importance of considering rare conditions, such as sitosterolemia, as a differential diagnosis in patients with hypercholesterolemia, xanthomas, and hematologic anomalies. It also emphasizes the underdiagnosis of sitosterolemia and the benefits of using sterol profiles and genetic testing in the diagnostic process to initiate the appropriate therapy and avoid harm to patients., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)

Background: Access to appropriate healthcare is essential for children's healthy development. This is lacking in rural and remote areas, impacting health outcomes. Despite efforts to improve access for these communities, to date, no review has systematically mapped the literature on allied health models of care for children with developmental needs. This scoping review seeks to address this knowledge gap., Methods: Adhering to the PRISMA-ScR and Joanna Briggs Institute guidelines, a systematic search was conducted. A total of 8 databases (from inception to May 2023) and 106 grey literature sources were searched. Two reviewers independently undertook a two-stage screening process. Data were extracted using customised tools and narratively synthesised utilising the Institute of Medicine's quality domains. This review is registered a priori via Open Science Framework., Results: Twenty-five citations were identified within the literature. Varied models of care were reported from five mostly Western countries. Models of care identified in these areas were classified as screening services, role substitution, consultative services, or online-based services. Positive impacts on quality of healthcare were reported across all quality domains (apart from safety) with the domain of effectiveness being the most commonly reported., Conclusions: Multiple models of care are currently in operation for children with developmental needs in rural and remote areas and appear to improve the quality of care. Due to complexities within, and limitations of, the evidence base, it is unclear if one model of care is superior to another. This review provides a basis for further research to explore why some models may be more effective than others.

Background: Fitspiration is a social media phenomenon purported to inspire viewers to lead healthier lifestyles but can result in negative psychological outcomes such as body dissatisfaction. This study aimed to develop a tool to audit Instagram fitspiration accounts and screen for content that could have potentially negative psychological effects., Methods: This study developed and implemented an audit tool to (1) identify credible fitspiration accounts (i.e., accounts that do not portray potentially harmful or unhealthy content) and (2) describe the content of identified accounts. The most recent 15 posts of 100 leading Instagram fitspiration accounts were audited. Accounts were deemed non-credible and were excluded if they contained fewer than four fitness-related posts or portrayed nudity or inappropriate clothing, sexualisation or objectification, extreme body types, "thinspiration", or negative messages., Results: Many accounts contained fewer than four fitness-related posts (n = 41), sexualisation or objectification (n = 26), nudity or inappropriate clothing (n = 22), and/or extreme body types (n = 15). Three accounts failed on all four criteria, while 13, 10 and 33 failed on three, two, or one criterion, respectively. Therefore, only 41% of accounts were considered credible. Inter-rater reliability (percentage agreement and Brennan and Prediger's coefficient κ q ) was high (Stage 1: 92% agreement [95% CI 87, 97], κ q 0.84 [95% CI 0.73, 0.95]; Stage 2: 93% agreement [95% CI 83, 100], κ q 0.85 [95% CI 0.67, 1.00]). Account holders of credible fitspiration accounts were predominantly female (59%), aged 25-34 (54%), Caucasian (62%), and from the United States (79%). Half held a qualification related to physical activity or physical health (e.g., personal trainer, physiotherapy; 54%). Most included accounts included an exercise video (93%) and example workout (76%)., Conclusion: While many popular Instagram fitspiration accounts offered credible content such as example workouts, many accounts contained sexualisation, objectification or promotion of unhealthy or unrealistic body shapes. The audit tool could be used by Instagram users to ensure the accounts they follow do not portray potentially harmful or unhealthy content. Future research could use the audit tool to identify credible fitspiration accounts and examine whether exposure to these accounts positively influences physical activity., (© 2023. The Author(s).)

Chronic granulomatous disease should be considered in adults of any age in the presence of refractory and/or atypical or fulminant pulmonary infections. This case of new large deletions in NCF1 was presented with mulch pneumonitis without a significant history of infections., (© 2022 The Authors.)

Question: What is the intra and inter-rater reliability and concurrent validity of the weight-bearing lunge test within a Congenital Talipes Equinovarus population?, Design: Test retest design for reliability and validity. The measure was taken, following preconditioning of the participants, using distance from wall, angle at distal posterior tibia using a digital inclinometer and the iPhone level function, twice by each rater. The raters included a clinician, clinician in training and a parent/carer., Outcome Measures: Weight bearing lunge test as a measure of ankle dorsiflexion., Results: Twelve children aged 5-10 years were eligible to participate and consented, along with their parents. Intra-reliability of distance measures for all raters were good to excellent (ICC clinician 0.95, ICC training clinician 0.98 and ICC parent 0.89). Intra-rater reliability of the iPhone for all raters was good (ICCs > 0.751) and good to excellent for the inclinometer (ICC clinician 0.87, ICC training clinician 0.90). Concurrent validity between the clinician's and parents distance measure was also high with ICC of 0.899. Inter-rater reliability was excellent for distance measure (ICC = 0.948), good for the inclinometer (ICC = 0.801) and moderate for the iPhone (ICC = 0.68). Standard error of measurement ranged from 0.70-2.05, whilst the minimal detectable change ranged from 1.90-5.70., Conclusion: The use of the WBLT within this CTEV population has demonstrated good to excellent reliability and validity amongst clinicians, clinicians in training and parents/carers, supporting its use as an assessment measure of dorsiflexion range of motion. There is support for parents/carers to use the WBLT at home as a monitoring assessment measure which may assist with early detection of a relapse., Trial Registration: University of South Australia's ethics committee (ID: 201397); Women's and Children's Hospital ethics committee (AU/1/4BD7310)., Competing Interests: The authors declare they have no competing interests., (©2021 Gosse et al.)

The GATA2 gene encodes a zinc-finger transcription factor that acts as a master regulator of normal hematopoiesis. Mutations in GATA2 have been implicated in the development of myelodysplastic syndrome and acute myeloid leukemia (AML). Using RNA sequencing we now report that GATA2 is either mutated with a functional consequence, or expressed at low levels in the majority of normal karyotype AML (NK-AML). We also show that low-GATA2-expressing specimens (GATA2(low)) exhibit allele-specific expression (ASE) (skewing) in more than half of AML patients examined. We demonstrate that the hypermethylation of the silenced allele can be reversed by exposure to demethylating agents, which also restores biallelic expression of GATA2. We show that GATA2(low) AML lack the prototypical R882 mutation in DNMT3A frequently observed in NK-AML patients and that The Cancer Genome Atlas AML specimens with DNMT3A R882 mutations are characterized by CpG hypomethylation of GATA2. Finally, we validate that several known missense single-nucleotide polymorphisms in GATA2 are actually loss-of-function variants, which, when combined with ASE, represent the equivalent of homozygous GATA2 mutations. From a broader perspective, this work suggests for the first time that determinants of ASE likely have a key role in human leukemia.