Priorities, barriers, and facilitators for nutrition-related care for autistic children: a qualitative study comparing interdisciplinary health professional and parent perspectives

IntroductionChildren with autism spectrum disorder often face nutrition-related challenges, such as food selectivity, gastrointestinal issues, overweight and obesity, and inadequate nutrient intake. However, the role of routine nutrition-related screening or care by interdisciplinary health professionals is not well understood. This study aimed to compare the beliefs of health professionals with those of parents of autistic children regarding high-priority nutrition-related challenges, barriers and facilitators to care, and desired education and resources related to nutrition for autistic children.ParticipantsInterdisciplinary health professionals (n = 25) (i.e., pediatricians, occupational therapists, speech-language pathologists, board certified behavior analysts, registered dietitians) and parents of autistic children (n = 22).MethodsThe study used semi-structured phone interviews, which were recorded, transcribed, verified, and double-coded using the Framework Method.ResultsThematic analysis of transcripts revealed that while health professionals and parents of autistic children shared some perspectives on nutrition-related challenges and care, they also had distinct viewpoints. Parents emphasized the importance of addressing food selectivity, behavioral eating challenges, sensory issues, and sleep disturbances affecting appetite. Both groups acknowledged the need for tailored support, access to an interdisciplinary care team, and reasonable expectations. Some health professionals perceived parents as lacking motivation or the ability to make changes. In contrast, many parents felt that health professionals lacked the knowledge and motivation to take nutrition or growth concerns seriously. Health professionals acknowledged that their lack of knowledge or capacity to provide nutrition education or referrals was a common barrier to care, particularly given limited community resources.DiscussionHealth professionals who serve autistic children are motivated to address nutrition-related challenges but lack resources related to nutrition. To promote better health outcomes for autistic children, professionals should identify and support parent motivations around nutrition-related care. Both groups expressed interest in accessing autism-specific resources for education, referral, and screening guidance. Future research could explore the development of healthcare training models that improve the competency of health professionals in providing nutrition care and referral for autistic children

Pro-Con Debate: Viscoelastic Hemostatic Assays Should Replace Fixed Ratio Massive Transfusion Protocols in Trauma

Major trauma patients at risk of traumatic coagulopathy are commonly treated with early clotting factor replacement to maintain hemostasis and prevent microvascular bleeding. In the United States, trauma transfusions are often dosed by empiric, low-ratio massive transfusion protocols, which pair plasma and platelets in some ratio relative to the red cells, such as the "1:1:1" combination of 1 units of red cells, 1 unit of plasma, and 1 donor's worth of pooled platelets. Empiric transfusion increases the rate of overtransfusion when unnecessary blood products are administered based on a formula and not on at patient's hemostatic profile. Viscoelastic hemostatic assays (VHAs) are point-of-care hemostatic assays that provided detailed information about abnormal clotting pathways. VHAs are used at many centers to better target hemostatic therapies in trauma. This Pro/Con section will address whether VHA guidance should replace empiric fixed ratio protocols in major trauma

Mineralocorticoid Receptor (MR)trans-Activation of Inflammatory AP-1 Signaling

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The Caenorhabditis elegans Aβ1–42 Model of Alzheimer Disease Predominantly Expresses Aβ3–42*

Transgenic expression of human amyloid β (Aβ) peptide in body wall muscle cells of Caenorhabditis elegans has been used to better understand aspects of Alzheimer disease (AD). In human aging and AD, Aβ undergoes post-translational changes including covalent modifications, truncations, and oligomerization. Amino truncated Aβ is increasingly recognized as potentially contributing to AD pathogenesis. Here we describe surface-enhanced laser desorption ionization-time of flight mass spectrometry mass spectrometry of Aβ peptide in established transgenic C. elegans lines. Surprisingly, the Aβ being expressed is not full-length 1–42 (amino acids) as expected but rather a 3–42 truncation product. In vitro analysis demonstrates that Aβ3–42 self-aggregates like Aβ1–42, but more rapidly, and forms fibrillar structures. Similarly, Aβ3–42 is also the more potent initiator of Aβ1–40 aggregation. Seeded aggregation via Aβ3–42 is further enhanced via co-incubation with the transition metal Cu(II). Although unexpected, the C. elegans model of Aβ expression can now be co-opted to study the proteotoxic effects and processing of Aβ3–42

Inhibition of polymethylmethacrylate particle-induced monocyte activation and il-1β and tnf-α expression by the antioxidant agent n-acetylcysteine

We investigated the effectiveness of an antioxidant agent, N-acetylcysteine (NAC), in suppressing macrophage activation and mediator release in response to particulate debris. Polymethylmethacrylate (PMMA) particle-stimulated monocyte-macrophages were cultured alone and with varying concentrations of NAC. Tumor necrosis factor alpha (TNFalpha) and interleukin-1beta (IL-1beta) expression in the resultant cultures were measured using enzyme-linked immunosorbant assays. The ultrastructural effect of treatment was also assessed by electron microscopy. Cell viability in the various cultures was measured to rule out an effect of cytotoxicity. NAC treatment reduced TNFalpha and IL-1beta expression by the monocyte-macrophages. Culturing with NAC was also associated with less ultrastructural activation of the monocytes. Furthermore, NAC was not associated with any adverse effect on cell viability in the concentrations used. Our findings demonstrate the effectiveness of the antioxidant N-acetylcysteine in suppressing the cell activation and TNFalpha release seen on exposure to wear debris. This represents a novel potential therapeutic method in the prevention or treatment of periprosthetic osteolysis

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders