VGLL-fusions define a new class of intraparenchymal CNS schwannoma.

Background: Intracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the CNS. They are not classified as a separate tumor type in the 2021 WHO classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly.

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

A growing number of genes have been identified in individuals with cerebral palsy (CP); however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. An expert panel developed 6 criteria to review the reported cerebral palsy phenotype/description for each included study.

Cultural and co-designed principles for developing a Māori kaumātua housing village to address health and social wellbeing.

Background: The current study is a case study of a Māori (Indigenous people of New Zealand) organisation and their developmental processes in creating a kaumātua (older people) housing village for health and social wellbeing. This study identifies how a set of established co-design and culturally-centred principles were enacted when creating and developing the village.

Method: A mixed-method concurrent design was used in creating the case with interviews (n = 4), focus groups (N = 4 with 16 total participants) and survey questionnaires (n = 56) involving kaumātua and organisation members.

Climate change and pavement burns in the United Kingdom: a case report of two patients.

Pavement burns are more common in locations familiarised with high temperatures and a dry climate zone, but have not previously been reported in temperate climates. We present two cases of patients who suffered pavement burns in the United Kingdom during an unprecedentedly hot day in July 2022. The first case involved a 66-year-old male who suffered partial and full thickness burns requiring excision and skin grafting.

SMOOTH protocol: A pilot randomised prospective intra-patient single-blinded observational study for examining the mechanistic basis of ablative fractional carbon dioxide laser therapy in treating hypertrophic scarring.

Background: Burn injuries are the fourth most common type of trauma and are associated with substantial morbidity and mortality. The impact of burn injury is clinically significant as burn injuries often give rise to exuberant scarring. Hypertrophic scarring (HTS) is a particular concern as up to 70% of burns patients develop HTS.

Recent parallel speciation in Antirrhinum involved complex haplotypes and multiple adaptive characters.

A role of ecological adaptation in speciation can be obscured by stochastic processes and differences that species accumulate after genetic isolation. One way to identify adaptive characters and their underlying genes is to study cases of speciation involving parallel adaptations. Recently resolved phylogenies reveal that alpine morphology has evolved in parallel in the genus Antirrhinum (snapdragons): first in an early split of an alpine from a lowland lineage and, more recently, from within the lowland lineage to produce closely related sympatric species with contrasting alpine and lowland forms.

Understanding the "Difficult" Patient.

James Groves opens his 1978 foundational article, "Taking Care of the Hateful Patient," thusly, "Admitted or not, the fact remains that a few patients kindle aversion, fear, despair, or even downright malice in their doctors." Groves understood his article as pulling back the curtain on an experience that physicians had but that few dared discuss without shame. His taxonomy of four types of "hateful" patients: clingers, entitled demanders, manipulative help rejectors, and self-destructive deniers may still be instructive.

Codesigning a Culture-Centered Age-Friendly Community for Māori Kaumātua: Cultural Principles and Practices.

Objectives: This study examined a Māori (Indigenous people of Aotearoa New Zealand) age-friendly housing development. Two Māori community groups worked with multiple stakeholders to codesign a culture-centered, kaumātua (older adults) urban housing community. The purpose was to identify codesign and culture-centered principles in the development.

Differential benefits of steroid therapies in adults following major burn injury.

Background: Major thermal injury induces a complex pathophysiological state characterized by burn shock and hypercatabolism. Steroids are used to modulate these post-injury responses. However, the effects of steroids on acute post-burn outcomes remain unclear.

Is Trust Enough? Anti-Black Racism and the Perception of Black Vaccine "Hesitancy".

In this article, I offer a preliminary exploration of the heavy lifting that the word "trust" is doing in questions about Black distrust of medicine and what, if anything, comes from it. I also offer an account of why questions like, "Why don't Black people trust vaccines?" are not only the wrong questions to ask but also insulting, and I go on to provide a Black feminist analysis of racial injustice in medicine-an analysis that does not center a notion of trust. I begin by arguing that implicit in these questions is a pathologizing of Black people-the idea that there is something wrong with Black people rather than something wrong with the conditions within which Black people exist.

Empathy and structural injustice in the assessment of patient noncompliance.

Empathy is generally considered important because it is linked to prosocial helping behaviors. To the extent that humans are thought to be social creatures, empathy is regarded as an important component of our general well-being. Meanwhile, empathy skeptics argue that empathy is not as important as its proponents believe.

The β-Secretase Substrate Seizure 6-Like Protein (SEZ6L) Controls Motor Functions in Mice.

The membrane protein seizure 6-like (SEZ6L) is a neuronal substrate of the Alzheimer's disease protease BACE1, and little is known about its physiological function in the nervous system. Here, we show that SEZ6L constitutive knockout mice display motor phenotypes in adulthood, including changes in gait and decreased motor coordination. Additionally, SEZ6L knockout mice displayed increased anxiety-like behaviour, although spatial learning and memory in the Morris water maze were normal.

At home parent-administered dressing changes in paediatric burns aftercare: Interviews on parents' experiences of treatment.

Objective: Paediatric burn injuries present physical and psychosocial effects for children and their parents, including disruption to family life. Some burns services in the UK enable parents to administer dressing changes at home to reduce the number of hospital visits. To date, there is no research on parents' experiences of administering dressing changes.

Age estimation from developing third molars.

We investigated the development of third molars among Malaysians (including variations between jaws and genders) using Demirjian's method. Dental panoramic radiographs of 1224 subjects aged 8 to 24 years were examined, and the molars were assigned Demirjian et al.'s development grades (A-H).

At home parent-administered dressing changes in paediatric burns aftercare: A survey of burns centres?" practice.

Objective: Following paediatric burn injury, dressings are initially changed in outpatient clinics, necessitating regular visits with substantial burden for parents, children and services. This can potentially be lessened if some parents go on to administer dressing changes for their child at home. However, a lack of data regarding support for parent-administered dressing changes is present.

Multicentre, longitudinal, observational cohort study to examine the relationship between neutrophil function and sepsis in adults and children with severe thermal injuries: a protocol for the Scientific Investigation of the Biological Pathways Following Thermal Injury-2 (SIFTI-2) study.

Introduction: Burn-induced changes in the phenotype and function of neutrophils, cells which provide front-line protection against rapidly dividing bacterial infections, are emerging as potential biomarkers for the early prediction of sepsis. In a longitudinal study of adult burns patients, we recently demonstrated that a combined measurement of neutrophil phagocytic capacity, immature granulocyte (IG) count and plasma cell-free DNA (cfDNA) levels on the day of injury gave good discriminatory power for the prediction of later sepsis development. However, limited by a small sample size, single-centre design and focus on adult burns patients, these biomarkers require prospective validation in a larger patient cohort.

People with Cerebral Palsy and Their Family's Preferences about Genomics Research.

Introduction: The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.

Methods: Individuals with CP and their family members were invited to participate in the web-based survey via email (NSW/ACT CP Register) or via posts on social media by Cerebral Palsy Alliance, CP Research Network, and CP Now. Survey responses included yes/no/unsure, multiple choices, and Likert scales.

A phylogeny of Antirrhinum reveals parallel evolution of alpine morphology.

Parallel evolution of similar morphologies in closely related lineages provides insight into the repeatability and predictability of evolution. In the genus Antirrhinum (snapdragons), as in other plants, a suite of morphological characters are associated with adaptation to alpine environments. We tested for parallel trait evolution in Antirrhinum by investigating phylogenetic relationships using restriction-site associated DNA (RAD) sequencing.