Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Marfanoid habitus and intellectual disability (MHID) co-occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan-Fryns, an X-linked genetic disorder associated with variants in MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical and genetic heterogeneity. We present a case report of a 20-year-old male patient with MHID and severe social anxiety. A comprehensive clinical evaluation, including morphotype assessment, cognitive, and psychometric and genetic testing, was conducted to provide a detailed understanding of the patient's complex clinical presentation. Psychometric assessments revealed severe social anxiety and various cognitive and emotional challenges. Despite some autism-like symptoms, the patient's clinical presentation was more aligned with mild intellectual disability. Exome sequencing was inconclusive but identified a heterozygous de novo missense variant in the PCDHGA5 gene. This gene is not known in human pathology yet, but we also report a second patient with a syndromic neurodevelopmental disorder and a rare de novo variant which leads us to propose this as a candidate gene. Our findings emphasize the importance of multidisciplinary approach in the diagnosis and management of MHID. This case report underscores the need for objective clinical evaluations and standardized tools to better understand the complex clinical profiles of patients with NDDs. The identification of novel PCDHGA5 gene variants adds this gene's candidacy to the genetic landscape of MHID-NDD, warranting further investigation to determine its potential contribution.

Making sense of COVID-19: manifestations of health capital during the pandemic.

BACKGROUND: Grounded in Bourdieu's theory of human practice, this study aims to examine how individuals as social agents made sense of and acted upon their COVID-19 experiences. A recent conceptualization of health capital is utilized to explain the practices of patients in the pandemic, in relation to their biographical background. METHODS: This is a qualitative research in which the data were collected by biographical narrative interviews through a theoretical sampling approach. Eighteen interviews with COVID-19 patients were conducted and 8 of them were analyzed by the Documentary Method. RESULTS: The informants made sense of their illness experiences through their health capital, which is manifested in their self-perception of health, their attitudes towards the healthcare system, their conception of terms such as luck, their work status, and the gendered division of labour at home in the COVID-19 pandemic. All the manifestations are mediated by the social, cultural, and economic capital of the informants, and their habitual practices are based on their symbolic capital. CONCLUSION: The study depicts how social agents' health capital manifested in the pandemic, relying on their symbolic capital, and shaping their practices. Further research across diverse contexts is needed to fully understand extra dimensions of health capital as a descriptor of the social determinants of health.

Balletic bodies under lockdown: The consequences of a pandemic for highly disciplined habitus.

Like other elite athletes, ballet dancers are highly dedicated to the pursuit of their vocation. They work to perfect their bodies, their movements and their expression of the art form. The lockdowns that occurred during the COVID-19 pandemic represented a significant interruption to the extraordinary but everyday lives of ballet dancers, creating unique environments where exploration of the embodied habitus of ballet can be further investigated. The impacts of lockdown upon dancers were explored via a series of interviews with 12 professional dancers from Germany. Framed by previous research, theorising the balletic body from a Bourdieusian perspective, interview data were analysed using Interpretative Phenomenological Analysis. Our research highlights the way in which COVID-19 lockdowns and associated restrictions disrupt the habitus of dancers and results in a form of suffering that is comparable to injury or chronic illness. Our research suggests that individuals respond to the 'structural injuries' of lockdown measures in a manner comparable to the way they respond to physiological injury. Thus, dancers sought to repair or re-establish the social structures they ordinarily inhabit whilst the inevitable limitations of such efforts engendered occasions for reflexive thinking about their role, careers and identity as dancers.

Reframing the public/private debate on healthcare services: Tracking boundaries in the National Health Service.

This paper intervenes in the dichotomous debate on the 'privatisation' of the UK's National Health Service (NHS). Whilst research suggests that involving private-sector actors and principles deviates from the founding aims of the NHS to deliver equitable healthcare for all, the opposing argument to 'keep our NHS public' also limits understanding and alternative possibilities. Through focusing on maintaining overarching structures, these campaigns fail to address everyday medical practices that have long been critiqued by those allied with the sociology of health and illness. This paper draws on feminist critiques of public/private to expand the structural economic lens of mainstream political debates and explore how multiple forms of economic, social, cultural, and symbolic capital, operate in everyday healthcare practices. Through an historically-informed ethnographic exploration of routine hip replacements, I find that capital itself emerges through relations between people and things, and that public/private boundaries play an integral role in forming these relations to instil value on particular patients and forms of labour, demarcating what kind of healthcare is given to whom. I therefore suggest future action should focus on assembling healthcare relations beyond the dualism of public/private categories, to create multiple safe places and relations for all.

Shape-shifting versions of class in Australia and the pursuit of equity in public health.

The COVID-19 pandemic and current cost of living crisis have highlighted socioeconomically patterned health disparities, bringing renewed focus on equity in public health. Despite political rhetoric invoking cultural narratives of egalitarianism and opportunities for class mobility, social class remains a significant factor in health outcomes in the Australian context. For social scientists, class (despite robust critiques) is a key analytical concept that has been theoretically broadened to encompass social and cultural practices (habitus). In public health, however, concepts of social disadvantage have expanded toward frames such as health equity and socioeconomic status in ways that can obscure 'class' and habitus. Understandings and operationalization of concepts of class and equity not only impact collaborative and interdisciplinary relationships, but also the framing of public health problems and health promotion interventions and policies. In this article, we draw on our experiences as anthropologists conducting ethnography in and of Australian health promotion programs to map and re-evaluate the intersection of concepts of social class and equity. We trace how representations of class emerged in these programs, and the versions of class and equity that materialized across different public health contexts. We argue for a conceptual repositioning of class that recognizes its shape-shifting qualities and of its materializations in different politics, disciplines and everyday contexts. In doing so, we highlight 'class' as a salient dimension of the design, implementation and evaluation of health promotion programs.

Surgical Approach and Body Mass Index Impact Risk of Wound Complications Following Total Hip Arthroplasty.

BACKGROUND: Previous studies have suggested that wound complications may differ by surgical approach after total hip arthroplasty (THA), with particular attention toward the direct anterior approach (DAA). However, there is a paucity of data documenting wound complication rates by surgical approach and the impact of concomitant patient factors, namely body mass index (BMI). This investigation sought to determine the rates of wound complications by surgical approach and identify BMI thresholds that portend differential risk. METHODS: This multicenter study retrospectively evaluated all primary THA patients from 2010 to 2023. Patients were classified by skin incision as having a laterally based approach (posterior or lateral approach) or DAA (longitudinal incision). We identified 17,111 patients who had 11,585 laterally based (68%) and 5,526 (32%) DAA THAs. The mean age was 65 years (range, 18 to 100), 8,945 patients (52%) were women, and the mean BMI was 30 (range, 14 to 79). Logistic regression and cut-point analyses were performed to identify an optimal BMI cutoff, overall and by approach, with respect to the risk of wound complications at 90 days. RESULTS: The 90-day risk of wound complications was higher in the DAA group versus the laterally based group, with an absolute risk of 3.6% versus 2.6% and a multivariable adjusted odds ratio of 1.5 (P < .001). Cut-point analyses demonstrated that the risk of wound complications increased steadily for both approaches, but most markedly above a BMI of 33. CONCLUSIONS: Wound complications were higher after longitudinal incision DAA THA compared to laterally based approaches, with a 1% higher absolute risk and an adjusted odds ratio of 1.5. Furthermore, BMI was an independent risk factor for wound complications regardless of surgical approach, with an optimal cut-point BMI of 33 for both approaches. These data can be used by surgeons to help consider the risks and benefits of approach selection. LEVEL OF EVIDENCE: Level III.

"Sense for Gambling" Among Jewish Ultra-Orthodox Men With Gambling Disorder.

Making sense of the social world is an intricate process heavily influenced by cultural elements. Gambling is a prevalent leisure-time activity characterized by risk-taking conduct. While some individuals who engage in it do so without experiencing any harm, others will develop gambling problems. Judaism tends to perceive gambling negatively since it contradicts fundamental Jewish principles. The current study focuses on the Jewish Ultra-Orthodox community in Israel which is characterized as a cultural enclave with minimal interaction with the secular world. Hence, it provides a unique and novel socio-cultural context to inquire how individuals with gambling disorder (GD) from this community make sense of gambling. Following constructivist grounded theory guidelines, 22 Ultra-Orthodox men with GD were interviewed using a purposeful sampling design. Sixteen Rabbis were also interviewed, illuminating the socio-cultural context of Halachic regulations and norms regarding gambling in this community. An abductive analysis of the data, interwoven with Bourdieu's concept of habitus, yielded an overarching theme that we dub as "sense for gambling," encompassing matrices of Ultra-Orthodox external (e.g., a conservative cultural structure with numerous prohibitions and life marked by poverty) and internal (e.g., feelings of loneliness, dissatisfaction, and deviance) dispositions imprinted onto the body, creating diverse embodied reactions (emotional and sensory) to gambling, and leading to developing GD. We recommend placing the body, as the locus of internalized dispositions, at the core of examination when researching pathways to GD. We propose that this intricate interplay between external and internal dispositions shapes the decision-making regarding gambling, thus mitigating individual responsibility for GD.

Exploring normative frameworks of fairness through (relational) institutional habitus in Oxford's undergraduate admissions process.

In the UK's stratified HE system the question of who is able to access the most selective and prestigious universities is fraught with issues of fairness. This paper explores how decision-makers in Oxford's undergraduate admissions process construct norms of fairness and how such norms inform their reflexive considerations and actions around admissions decisions. Framing such norms as multiple institutional habituses, the paper considers how decision-makers compromise and negotiate between institutional habituses in tension. Further, it presents an augmented conception of institutional habitus - the relational institutional habitus - which offers a conceptual tool to make sense of the existence of multiple contested institutional norms and their partial and fragile reconciliation in institutional action.

Paranirvar manis (dependent people)? Rethinking humanitarian dependency syndrome: a Bourdieusian perspective.

Disaster survivors are often criticised for being dependent on humanitarian (and development) assistance. This dependency is perceived pejoratively by civil servants and other elites, including non-governmental organisation staff. Officials offered up such narratives in relation to the disaster response and recovery programmes following the Nepal earthquake of 2015. Using a Bourdieusian framework, and undertaking qualitative inquiry in four earthquake-affected districts of Nepal, this paper contrasts the official narratives of dependency syndrome with people's perspectives and lived experiences. The findings problematise official discourse. Aid was frequently insufficient, poorly targeted, or non-existent. Moreover, the Bourdieusian framing highlights the agency of survivors, as their habitus predisposed them to help others. It broadens the notion of assistance and dependence, suggesting that social and cultural (as well as economic) capital are vital resources for recovery. Lastly, it shows that dependencies are not necessarily bad. Greater attention to these non-economic capitals and 'good dependencies' could expedite recovery from future disasters.

Maternal COVID vaccination and breastfeeding during a pandemic: Habitus and health behavior decision making.

OBJECTIVE: To examine the influence of habitus on women's health behavior regarding breastfeeding and subsequent COVID-19 vaccination. DESIGN: A qualitative descriptive design, guided by Pierre Bourdieu's concept of habitus. SAMPLE: Eighteen women who were postpartum, breastfeeding, and vaccinated against COVID- 19 either during pregnancy or while breastfeeding postpartum. MEASURES: Individual semi-structured interviews. RESULTS: Two major themes shaped participants' habitus: health-focused knowledge, and attitudes and beliefs. Attitudes and beliefs included five subthemes: (1) exposure/acceptance/expectations from family, (2) community acceptance of breastfeeding and COVID-19 vaccination, (3) socioeconomic status, (4) easily accessed support, and (5) outside experiences and exposure. DISCUSSION: An individual's habitus impacts one's knowledge, attitudes, and beliefs and interacts with past behaviors when discussing options for infant feeding and health promoting behaviors such as vaccinations. A better understanding of how health care providers assess and utilize habitus in clinical management is needed.