“Disadvantaged patient populations”: A theory-informed education needs assessment in an urban teaching hospital

Recent calls in medical education and health care emphasize equitable care for disadvantaged patient populations (DPP), with education  highlighted as a key mechanism to move toward this goal. However, in order to develop effective education strategies we must first better understand the DPP concept. We conducted a theory-informed needs assessment to explore the concept of DPP as understood in our hospital.  Using an interpretive qualitative approach informed by principles of critical discourse analysis we conducted focus groups with trainees and staff across professions and groups, as identified in the hospital’s strategic plan, representing “patients experiencing disadvantage.” We identified three main perceptions about DPP:  1) disadvantaged patients require care above and beyond what is normal; 2) the system is to blame for failures in serving disadvantaged patients; and 3) labelling patients is problematic and stigmatizing. In response, patients wanted to be first seen as valuable human beings rather than as a burden or category. Patients appreciated that the DPP concept opened up better access to care, but also felt ‘othered’ by the concept. As a result, patients felt they were not accessing the same level of care in terms of compassion and respect.  Our findings suggest potential for three, theory-informed educational approaches to help improve care for patients experiencing disadvantage: 1) sharing authentic and varied stories; 2) fostering dialogue; and 3) aligning assessment approaches with educational approaches. Additionally, we suggest a need to define access beyond the ability to receive services; according to our participants, access must also engender a sense of common humanity and respect.&nbsp

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases. Although it is essential for fucose salvage, this pathway is thought to make only a minor contribution to the total amount of GDP-fucose. A second pathway, the major de novo pathway, involves conversion of GDP-mannose to GDP-fucose. Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia. The first individual was compound heterozygous for c.667T>C (p.Ser223Pro) and c.2047C>T (p.Arg683Cys), and the second individual was homozygous for c.2980A>C (p.Lys994Gln). Skin fibroblasts from the first individual confirmed the variants as loss of function and showed significant decreases in total GDP-[3H] fucose and [3H] fucose-1-phosphate. There was also a decrease in the incorporation of [5,6-3H]-fucose into fucosylated glycoproteins. Lys994 has previously been shown to be an important site for ubiquitin conjugation. Here, we show that loss-of-function variants in FUK cause a congenital glycosylation disorder characterized by a defective fucose-salvage pathway

Pacing-Induced Alterations in Left Ventricular Mechanical Properties: Effect of Pacing Sites

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Women's Health in Multiple Sclerosis: A Scoping Review

Multiple sclerosis; Pregnancy; Women's healthEsclerosis múltiple; Embarazo; Salud de la mujerEsclerosi múltiple; Embaràs; Salut de la donaBackground: Women with multiple sclerosis (MS) may face challenges related to managing reproduction, pregnancy, and menopause while simultaneously managing their disease. The purpose of this scoping review was to map the literature broadly related to topics relevant to women's health in MS to inform the clinical and research communities about the existing types and sources of evidence and knowledge gaps. Apart from coverage of topics within the field of women's health, we were interested in potential gaps related to geographic and racial and ethnic diversity. We also aimed to understand the degree of inclusion of women with progressive MS in this research. Methods: We searched the EMBASE and Ovid Medline databases from 1980 until November 23, 2020. We included case-control and cohort studies, clinical trials and case series published in any language, conducted in women with MS, clinically isolated syndrome, or radiologically isolated syndrome, that addressed women's health. Two reviewers independently screened abstracts and full-text reports for study inclusion, and completed data extraction. Results: Of 112,106 citations screened, 1,041 underwent full-text review and 353 met the inclusion criteria. The number of studies regarding women's health has increased exponentially over time. Almost half of the studies were conducted (at least in part) in Europe, while 21.7% were conducted in North America; only one study was conducted in Africa. Most studies did not report the race or ethnicity of their participants (n = 308, 87.2%). Among the 353 studies, 509 topics were reported as some studies addressed more than one topic. Over one-third of these focused on pregnancy (n = 201, 37.2%), followed by fetal/neonatal outcomes (14.4%) and sexual dysfunction (10%). Among the 201 studies that focused on pregnancy, only 51 (25.4%) included participants with progressive MS. Conclusions: This review identifies important knowledge gaps related to women's health in MS and particularly the need for future studies to include participants with a broader range of races and ethnicities, with progressive MS, and living in Asia-Pacific and African regions

Precise breakpoint detection in a patient with 9p- syndrome

We present a case of 9p- syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10× Genomics sequencing) to characterize the location of the translocation and accompanying deletion on Chromosome 9 and duplication on Chromosome 13 with single-nucleotide breakpoint resolution. The translocation breakpoint was at Chr 9:190938 and Chr 13:50850492, the deletion at Chr 9:1-190938, and the duplication at Chr 13:50850492-114364328. We identified genes in the deletion and duplication regions that are known to be associated with this patient\u27s phenotype (e.g.

Deliver on Your Own: Disrespectful Maternity Care in rural Kenya

Background: Under the Free Maternity Policy (FMP), Kenya has witnessed an increase in health facility deliveries rather than home deliveries with Traditional Birth Attendants (TBA) resulting in improved maternal and neonatal outcomes. Despite these gains, maternal and infant mortality and morbidity rates in Kenya remain unacceptably high indicating that more needs to be done. Aim: Using data from the Access to Quality Care through Extending and Strengthening Health Systems (AQCESS) project’s qualitative gender assessment, this paper examines women’s experience of disrespectful care during pregnancy, labour, and delivery. The goal is to promote an improved understanding of the actual care conditions to inform the development of interventions that can lift the standard of care, increase maternity facility use, and improve health outcomes for both women and newborns. Methodology: We conducted sixteen focus group discussions (FGDs), two each for adolescent females, adult females, adult males, and community health committee members. As well, twenty-four key Informants interviews (KII) were also conducted including religious leaders, and persons from local government representatives, Ministry of Health (MOH), and local women’s organizations. Data were captured through audio recordings and reflective field notes. Research site: Kisii and Kilifi Counties in Kenya. Findings: Findings show nursing and medical care during labour and delivery were at times disrespectful, humiliating, uncompassionate, neglectful, or abusive. In both counties, male health workers were preferred by women giving birth, as they were perceived as more friendly and sensitive. Adolescent females were more likely to report abuse during maternity care while women with disabled children reported being stigmatized. Structural barriers related to transportation and available resources at facilities associated with disrespectful care were identified. Conclusions: A focus on quality and compassionate care as well as more facility resources will lead to increased, successful, and sustainable use of facility care. Interpreting these results within a systems perspective, Kenya needs to implement, enforce, and monitor quality of care guidelines for pregnancy and delivery including respectful maternity care of pregnant women. To ensure these procedures are enforced, measurable benchmarks for maternity care need to be established, and hospitals need to be regularly monitored to ensure these benchmarks are achieved

Growth induced instabilities in a circular hyperelastic plate

In this work, we have explored growth-induced mechanical instability in an isotropic circular hyperelastic plate. Consistent two-dimensional governing equations for a plate under a general finite strain are derived using a variational approach. The derived plate equations are solved using the compound matrix method for two cases of axisymmetric growth conditions - purely radial, and combined radial and circumferential growth. The effect of growth on the buckling behaviour of the plate (in particular, the critical growth factor and the associated buckling mode shapes) is investigated for different thickness values. These results are applicable to model growth induced deformation in planar soft tissues such as skin

Type 2 MI induced by a single high dose of isoproterenol in C57BL/6J mice triggers a persistent adaptive immune response against the heart.

Heart failure is the common final pathway of several cardiovascular conditions and a major cause of morbidity and mortality worldwide. Aberrant activation of the adaptive immune system in response to myocardial necrosis has recently been implicated in the development of heart failure. The ß-adrenergic agonist isoproterenol hydrochloride is used for its cardiac effects in a variety of different dosing regimens with high doses causing acute cardiomyocyte necrosis. To assess whether isoproterenol-induced cardiomyocyte necrosis triggers an adaptive immune response against the heart, we treated C57BL/6J mice with a single intraperitoneal injection of isoproterenol. We confirmed tissue damage reminiscent of human type 2 myocardial infarction. This is followed by an adaptive immune response targeting the heart as demonstrated by the activation of T cells, the presence of anti-heart auto-antibodies in the serum as late as 12 weeks after initial challenge and IgG deposition in the myocardium. All of these are hallmark signs of an established autoimmune response. Adoptive transfer of splenocytes from isoproterenol-treated mice induces left ventricular dilation and impairs cardiac function in healthy recipients. In summary, a single administration of a high dose of isoproterenol is a suitable high-throughput model for future studies of the pathological mechanisms of anti-heart autoimmunity and to test potential immunomodulatory therapeutic approaches