Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?

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.

Exploring Allied Health Models of Care for Children with Developmental Health Concerns, Delays, and Disabilities in Rural and Remote Areas: A Systematic Scoping Review.

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.

Hashtag fitspiration: credibility screening and content analysis of Instagram fitness accounts.

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.

Chronic granulomatous disease presenting at age 52 with fulminant mulch pneumonitis.

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 was presented with mulch pneumonitis without a significant history of infections.

Therapeutic options for CTLA-4 insufficiency.

Background: Heterozygous germline mutations in cytotoxic T lymphocyte-associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness.

Gross motor skill development is similar in children post Ponseti casting for congenital talipes equinovarus compared to typically developing children: a systematic review.

This review aimed to investigate gross motor skill development in children with congenital talipes equinovarus (CTEV) following the Ponseti method of casting and bracing. Summary of evidence revealed through a systematic search of electronic databases completed in May 2019. A Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used to report and conduct the study.

The reliability and validity of the weight-bearing lunge test in a Congenital Talipes Equinovarus population (CTEV).

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.

Synthesis of sub-micronic and nanometric PMMA particles via emulsion polymerization assisted by ultrasound: Process flow sheet and characterization.

PMMA particle synthesis was performed from MMA (methyl methacrylate) and water mixtures, exposed to different ultrasonic systems and frequencies. The sonication sequence was 20kHz→580kHz→858kHz→1138kHz, and the solution was sampled after each irradiation step for polymerization. Effects of sonication parameters (time, power), polymerization method (thermo-initiated or photo-initiated), use of small amounts of surfactant (Triton X-100™ or Tween® 20) and initial MMA quantity were investigated on particle size and synthesis yields.

Whole genome and transcriptome analysis of a novel AML cell line with a normal karyotype.

Acute myeloid leukemia (AML) occurs when hematopoietic progenitor cells acquire genetic defects blocking the regulation of normal growth and differentiation. Although recurrent translocations have been identified in AML, almost half of adult AML patients present with a normal karyotype (NK-AML). While cell line models exist to study AML, they frequently have abnormal/unstable karyotypes, while primary cells from NK-AML patients are difficult to maintain in vitro.

Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia.

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).

Cortisol, behavior, and heart rate reactivity to immunization pain at 4 months corrected age in infants born very preterm.

Objective: Pain response may be altered in infants born very preterm owing to repeated exposure to procedures in the neonatal intensive care unit. Findings have been inconsistent in studies of behavioral and cardiac responses to brief pain in preterm versus full-term infants following neonatal intensive care unit discharge. To our knowledge, cortisol reactivity to pain has not been compared in preterm and full-term infants.

Effects of videorecorded interactions and counseling for teachers on their responses to preschoolers with intellectual impairments.

Effects of an intervention and video interaction counseling with teachers of 78 children from school and centers were investigated. The study involved a quasi-experimental pretest-intervention-posttest control group design. In Condition 1 teachers received the counseling for 12 weeks, followed by withdrawal of this intervention for weeks.