Ethnic Backgrounds Research Articles

The Importance of Gene Variants Related to Folate Uptake and Distribution in the Etiology of Recurrent Miscarriage and Intrauterine Fetal Demise

(1) Background: The study involves an assessment of the frequency of selected gene variants related to folate uptake and distribution (FOLR1 rs2071010, rs630074, FOLH1 rs61886492, GGH rs11545078, rs3758149 and SLC19A1 rs1051266) in a group of women with fetal demise in the Polish population. (2) Methods: A total of 310 subjects were enrolled in the study. There were 110 females with idiopathic recurrent miscarriages (RM), 80 with stillbirth (IUFD) and 120 healthy controls. Designated SNVs were determined by using PCR-RFLP methods. The difference in fetal demise prevalence was assessed using a chi-square test and logistic regression analysis. (3) Results: The rs630074 variant of the FOLR1 gene is associated with a statistically significant increase in the risk of IUFD in a recessive model (OR = 2.03, 95%CI: 1.06–3.90, p = 0.033). The rs61886492variant f FOLH1 is linked to an increased risk of IUFD in co-dominant (p = 0.030), dominant (OR = 2.62, 95%CI: 1.07–6.38, p = 0.032) and log-additive models (OR = 2.64, 95%CI: 1.15–6.06 p = 0.030). In female carriers of the A allele, the risk of IUFD was 2.8 times higher compared to the control group. No relationship between the mother’s genotype and the newborn’s birth weight or placental weight was observed for the studied SNVs. (4) Conclusions: Our study finds that the rs61886492 variant of the FOLH1 gene is associated with IUFD in Polish women. However, pregnancy failures have a multifactorial pathology and other genetic or environmental factors may also contribute to their complex etiology. Further research, preferably with larger groups of women from different ethnic backgrounds, is needed to confirm the results of the current study.

Racial and Ethnic Disparities in Child Abuse Identification and Inpatient Treatment.

Child abuse is a leading cause of morbidity in early childhood. Accurate detection remains challenging. To describe racial and ethnic disproportionalities in suspicion for child abuse (SCA) in pediatric patients admitted after traumatic injury. This retrospective, multicenter cross-sectional study performed between 2022 and 2024 examined a representative national sample of children and adolescents (aged <18 years) admitted for pediatric trauma indications from 2006 to 2019. Data were from the Kids' Inpatient Database (KID), the largest publicly available all-payer pediatric inpatient care database. Patient demographics, injury severity, and hospitalization characteristics were classified by race and ethnicity and compared using univariate and multivariate regression. Statistical analysis was performed between March 2022 and October 2024. The SCA subgroup was identified using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) and International Statistical Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) codes corresponding to child and adolescent maltreatment. The primary outcome was the racial and ethnic composition of pediatric patients admitted after traumatic injury with SCA vs those without SCA. Among the weighted total of 634 309 pediatric patients with complete data included in the study, 13 579 patients had injuries attributable to SCA (SCA subgroup; mean [SD] age, 1.70 [0.04] years; 7650 male [56.3%]; 2868 Black [21.1%], 2293, Hispanic [16.9%], and 5675 White [41.8%]) and 620 730 patients did not (non-SCA subgroup; mean [SD] age, 9.70 [0.01] years; 395 158 male [63.7%]; 86 376 Black [13.9%], 108 406 Hispanic [17.5%], and 298 748 White [48.1%]). The racial and ethnic distribution of the non-SCA subgroup was similar to that of the 2010 US Census. In the SCA subgroup, Black patients (odds ratio [OR], 1.75; 95% CI, 1.65-1.85; P < .001) and Hispanic patients were overrepresented (OR, 1.11; 95% CI, 1.05-1.18; P < .001) and White patients were underrepresented compared with the Census. After controlling for socioeconomic factors and hospital characteristics among 504 365 (weighted) observations in White, Black, and Hispanic patients (493 530 patients without and 10 835 patients with SCA), Black race remained an independent risk factor associated with SCA (OR, 1.10; 95% CI, 1.03-1.17; P = .004), whereas Hispanic race was found to be a protective factor associated with decreased odds of SCA (OR, 0.71; 95% CI, 0.67-0.76; P < .001). Compared with White patients in the SCA subgroup, Black patients had a 26.5% (95% CI, 11.0%-44.3%) longer length of stay (P < .001) for mild to moderate injuries and a 40.1% (95% CI, 16.4%-68.5%) longer length of stay (P < .001) for serious injury. In this study, Black children and adolescents were suspected to have experienced child abuse at higher rates than children and adolescents of other racial and ethnic backgrounds. More research is necessary to understand the origins of these disparities to reduce them in child abuse identification.

Exploring Teaching Strategies to Bridge the Educational Equity Gap in Higher Education Mathematics for Minoritised Ethnic Students

This study investigates seven teaching methods designed to mitigate academic disparities in mathematics among undergraduate students from minoritised ethnic backgrounds in higher education through meta-analysis. This aims to determine the overall impact of different teaching approaches on student engagement and academic performance. The various methods of teaching analysed include Culturally Responsive Teaching, blended learning, Inquiry-Based Learning, Flipped Classroom, Project-Based Learning, Differentiated Instruction, and Mathematical Modelling. The analysis also examines two strategies, mathematical modelling and inquiry-based learning, which are particularly beneficial in promoting equal learning environments and assisting under-represented students in achieving their academic goals. The results correspond with previous research highlighting the importance of inclusive teaching strategies and validating the essential role these methods play in reducing educational inequalities. The research findings indicate that the p values and effect size demonstrate that all teaching methods and strategies improved students' academic performance and involvement. The study continues with recommendations for Higher Educational Institutions to incorporate these strategies into the curriculum to enhance the academic performance of minority ethnic students in mathematics.

Characterising the activity, lifestyle behaviours and health outcomes of UK university students: an observational cohort study with a focus on gender and ethnicity

BackgroundHealth-related outcomes and behaviours in university students are known to be poor relative to the general population. The substantial contextual shifts related to the COVID-19 pandemic, combined with increased numbers of students from minoritised ethnicity backgrounds and presenting as trans and gender diverse (TGD), means that up-to-date information is unavailable. The primary aim of this study was therefore to characterise the current movement, dietary and lifestyle behaviours, mental health, and Body Mass Index (BMI) of UK university students and assess differences between genders and ethnic groups.MethodsAn online, self-report survey was administered across three years (2021–2023). Three independent cohorts of university students’ (n = 6,327) completed the survey on four key topic areas. One-way ANOVAs were used to assess differences between genders (men, women, TGD), and independent samples t-tests were used to assess differences between ethnic groups (White, Minoritised Ethnicity).Results30% of students were not meeting physical activity guidelines, 54% were sedentary for ≥ 6 h·d− 1, 83% had poor diet quality, 51% were in high or increased risk groups for alcohol consumption, 18% experienced terrible or poor sleep quality, and 32% were overweight or obese. Gender differences were present for all variables other than walking physical activity (WPA) (P < 0.05), with men having better mental health and engaging in healthier movement and sleeping behaviours, whereas women had more healthful dietary and drinking behaviours, and TGD students had poorer outcomes compared to cis-gender students in most domains. Differences between White and minoritised ethnicity students were present for all variables other than sedentary behaviour, diet quality, WPA and BMI (P < 0.05); students of minoritised ethnicity engaged in better movement, drinking and sleep behaviours in addition to having more positive mental health than White students.ConclusionThe findings of the current study provide an update on the landscape of UK university students’ health and health-related behaviours. Overall, health-related outcomes and behaviours are poor in this population and these data suggest that gender and ethnicity play a role in determining students’ health and health-related behaviours. Therefore, these factors should be considered when developing strategies to promote healthy living in the context of higher education.

Experiences and Views of Older Adults of South Asian, Black African, and Caribbean Backgrounds About the Digitalization of Primary Care Services Since the COVID-19 Pandemic: Qualitative Focus Group Study.

The COVID-19 pandemic from 2020 to 2022 prompted governments worldwide to enforce lockdowns and social restrictions, alongside the rapid adoption of digital health and care services. However, there are concerns about the potential exclusion of older adults, who face barriers to digital inclusion, such as age, socioeconomic status, literacy level, and ethnicity. This study aims to explore the experiences of older adults from the 3 largest minoritized ethnic groups in England and Wales-people of South Asian, Black African, and Caribbean backgrounds-in the use of digitalized primary care services since the beginning of the COVID-19 pandemic. In total, 27 individuals participated in 4 focus groups (April and May 2023) either in person or via online videoconferencing. Patient and public involvement and engagement were sought through collaboration with community organizations for focus group recruitment and feedback on the topic guide. Data were analyzed using framework analysis. This paper summarizes the perspectives of 27 older adults from these 3 minoritized ethnic groups and identifies four key themes: (1) service accessibility through digital health (participants faced difficulties accessing digital health care services through online platforms, primarily due to language barriers and limited digital skills, with reliance on younger family members or community organizations for assistance; the lack of digital literacy among older community members was a prominent concern, and digital health care services were felt to be tailored for English speakers, with minimal consultation during the development phase), (2) importance of face-to-face (in-person) appointments for patient-clinician interactions (in-person appointments were strongly preferred, emphasizing the value of physical interaction and connection with health care professionals; video consultations were seen as an acceptable alternative), (3) stressors caused by the shift to remote access (the transition to remote digital access caused stress, fear, and anxiety; participants felt that digital health solutions were imposed without sufficient explanation or consent; and Black African and Caribbean participants reported experiences of racial discrimination within the health care system), and (4) digital solutions (evaluating technology acceptance; participants acknowledged the importance of digitalization but cautioned against viewing it as a one-size-fits-all solution; they advocated for offline alternatives and a hybrid approach, emphasizing the need for choice and a well-staffed clinical workforce). Digital health initiatives should address the digital divide, health inequalities, and the specific challenges faced by older adults, particularly those from minoritized ethnic backgrounds, ensuring accessibility, choice, and privacy. Overcoming language barriers involves more than mere translation. Maintaining in-person options for consultations, addressing sensitive issues, and implementing support systems at the practice level to support those struggling to access services are vital. This study recommends that policy makers ensure the inclusivity of older adults from diverse backgrounds in the design and implementation of digital health and social care services.

Acute Form of Sarcoidosis (Löfgren Syndrome): A Case Report

Sarcoidosis is a disorder that affects multiple systems with unclear causes and is relatively rare. The defining characteristic of this disease is the presence of granulomas in various organs in the human body. The incidence and presentation are changeable according to many factors, such as geography, ethnicity, sex, and genetic background. It is highest in Scandinavians. Löfgren syndrome represents a sudden manifestation of sarcoidosis, constituting approximately 10% of all cases. The classical signs and symptoms include bilateral symmetric hilar lymphadenopathy, fever, multiple joint swelling, and skin lesions known as erythema nodosum. Diagnosis of the disease can be quite challenging owing to its infrequent occurrence and the limited availability of sensitive and specific diagnostic tools, tests, and changeable clinical pictures that may suggest different aetiologies. Early diagnosis of Löfgren syndrome will ensure rapid treatment and fewer complications. This review presents the case of a 27-year-old healthy female with sudden onset of bilateral knee joint pain, swelling, erythema nodosum, and fever. Laboratory tests revealed elevated inflammatory parameters. Chest CT and chest X-ray revealed mediastinal and hilar lymphadenopathy, suggesting Löfgren syndrome. This report emphasises the broad spectrum of mimicry observed in cases of acute sarcoidosis, with a focus on the clinical picture and standard differentials that must be carefully evaluated to exclude other inflammatory and malignant conditions. The patient achieved full remission following symptomatic treatment.

ТОПИОНИЦЕ – ЈЕЗГРА НОВИХ НАСЕЉА У РУДАРСКИМ ОБЛАСТИМА ВУЧИТРНСКОГ САНЏАКА (15–16. ВЕК)

The paper focuses on smelteries as a factor influencing settlement in a region of the medieval mine of Novo Brdo in the sancak of Vučitrn (Vılçitrn). It aims to determine the number of smelters’ villages and to analyse their dynamics, especially in the context of the rise and fall of mining production. Based on an analysis of the 15th and 16th-century tapu tahrir defters of the abovementioned area, it will be shown that the number of smelters’ villages was much larger than would appear from an examination of previous studies. They were assembled in very small nahiyes created in accordance with the metallurgical production, not the geographical features of the territory concerned, as was usual. Their inhabitants were more often than not of diverse ethnic origins and religious affiliations.

Design and Development of an Alternative Instructional Material for Purposive Communication

The new generation of learners acquires purposive communication more quickly when exposed to simple communication approaches and accessible material that may incorporate the experiences, methods of knowing and doing, and knowledge of students from a range of ethnic backgrounds, culturally responsive teaching, which is most often connected with the work that fosters successful teaching and learning experiences. The study aimed to design and develop an alternative instructional material for purposive communication. Key informant interviews and focus group discussions were used to gather essential data. The participants believed that the language learning competencies through needs analysis should be secured first before designing and developing the instructional material and incorporating it with the effective aid of culturally responsive pedagogy. This study also came up with general findings that could be used in analyzing how to design and develop alternative instructional material in purposive communication: needs of students in learning cultural responsiveness, design of culturally sensitive instructional material, and prescribed alternative instructional material in purposive communication. Overall, the study suggests that the need for localized alternative instructional material in a local college must be valued and used in higher education institutions to establish and empower the roles of cultural diversity, awareness, sensitivity, and multiculturalism. The researcher recommends that the next researcher conduct the complete application of the ADDIE model after designing the alternative instructional material to assess or test its effectiveness.

Exploring student consensus about module-level ethnicity awarding gaps: a Delphi approach

ABSTRACT Attention paid to awarding gaps in higher education linked to ethnicity tends to focus on outcomes at the final award stage. Our project sought to scrutinise awarding gaps at module level where these gaps may emerge. Our aim was twofold: to identify the most important barriers to student success and determine strategies to reduce awarding gaps at module level, as perceived by students from various ethnic backgrounds and to investigate to what extent there is consensus amongst students of various ethnic backgrounds regarding these barriers and strategies. We employed a two-phase Delphi approach. The first phase involved data analytics to identify modules with awarding gaps in health and life sciences undergraduate degree programmes. The second phase employed a Delphi approach to collect student feedback on barriers to success and strategies to overcome them, focusing on culture, curriculum, and assessment. The study engaged 36 students in the first round and 53 in the second round. Our research confirmed the existence of awarding gaps at the module level. Students reached consensus on 55 out of 79 factors affecting their academic performance, with notable differences between White and racially minoritised student groups. This study suggests that, to close awarding gaps, both a module-level approach and a deep commitment to listening to our students is needed. Our study is the first to use a consensus-driven Delphi approach to identify key barriers and strategies at the module level, offering a framework for addressing awarding gaps and fostering inclusive, equitable education within and beyond the UK.

Foreign entrepreneurship in the Japanese startup ecosystem: Can deviance fuel innovation?

ABSTRACT The Japanese economy has experienced continued modest growth, and recently contraction, and has struggled with a formidable demographic crisis. In dire need of innovation, the Japanese government has started to focus on foreign entrepreneurship, encouraging innovation from abroad. This article examines the practices of knowledge-intensive, or “innovation-driven”, foreign entrepreneurship in contemporary Japan. Using qualitative data from in-depth interviews with foreign entrepreneurs of varied ethnic and national backgrounds, stakeholders of the Tokyo startup scene, as well as from participant observation at events of the Tokyo startup community, I propose that the concept of positive deviance can help us understand migrant entrepreneurs’ strategies for navigating business formation. As argued by previous migration literature, foreign migrants are suspected of deviance and are tightly controlled by the state. At the same time, the newly created Startup visa, which allows the entrepreneurs relatively easy and affordable access to the Japanese market, signals an unprecedented openness to migrants with the hope that their transnational experiences and connections facilitate innovative business creation and overcome Japanese norms of risk-aversity. The analysis reveals that the migrants walk a fine line between challenging social norms and slipping into illegality due to inflexible visa policies and structural constraints. Eventually, immigration policies, which have become increasingly flexible regarding skilled foreign employees, keep a firm grip on skilled foreign employers, thereby exposing migration authorities’ deeply ingrained notions of foreignness as negatively deviant. That said, migrants with sufficient socialization in Japanese institutions increasingly know how to maneuvre the legal system and the startup ecosystem.

Comparison of Race-neutral Versus Race-specific Spirometry Equations for Evaluation of Child Asthma.

Race-based estimates of pulmonary function in children could influence the evaluation of asthma in children from racial and ethnic minoritized backgrounds. To determine if race-neutral (GLI-Global) versus race-specific (GLI-Race-Specific) reference equations differentially impact spirometry evaluation of childhood asthma. The analysis included 8,719 children aged 5 to <12 years from 27 cohorts across the United States grouped by parent-reported race and ethnicity. We analyzed how the equations affected forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and FEV1/FVC z-scores. We used multivariable logistic models to evaluate associations between z-scores calculated with different equations and asthma diagnosis, emergency department (ED) visits, and hospitalization. For Black children, the GLI-Global vs. Race-Specific equations estimated significantly lower z-scores for FEV1 and FVC but similar values for FEV1/FVC, thus increasing the proportion of children classified with low FEV1 by 14%. While both equations yielded strong inverse relationships between FEV1 and FEV1/FVC z-scores and asthma outcomes, these relationships varied across racial and ethnic groups (p<0.05). For any given FEV1 or FEV1/FVC z-score, asthma diagnosis and ED visits were higher among Black and Hispanic versus White children (p<0.05). For FEV1, GLI-Global equations estimated asthma outcomes that were more uniform across racial and ethnic groups. Parent-reported race and ethnicity influenced relationships between lung function and asthma outcomes. Our data show no advantage to race-specific equations for evaluating childhood asthma, and the potential for race-specific equations to obscure lung impairment in disadvantaged children strongly supports using race-neutral equations.

Revision of Ethnic Immigrant Fiction Patterns in My New American Life by Francine Prose

The paper discusses the changing role of ethnicity in immigrant narratives with the example of Francine Prose's novel My New American Life (2011). It is a multidimensional work of fiction which presents ethnicity as a cultural and social asset. The novel brings into play and revisits a tradition of the novel of manners. It uses American cultural and social stereotypes to tailor the main character’s new identity of existential inbetweenness. and to represent the American realities of the Bush-Cheney era through the filter of the protagonist’s perspective as a semi-legal alien of a suspicious ethnic background. The paper problematizes the geopolitical challenges of immigration that the novel’s characters deal with in post-9/11 America. The article argues that in the novel, immigration is presented as a process with a distinct social dimension, prioritizing safety and welfare over the values of democracy and personal freedom.

Listening to the stories of others in South Africa: a sacrificial listening approach in education

ABSTRACT Pedagogical approaches that prioritize active empathetic listening have been shown to profoundly enrich the learning experience, cultivating a deep-seated mutual respect and understanding of diverse perspectives within the framework of democratic education. This study explores the potential impact of the concept of sacrificial listening providing the context of a particular educational program in South African secondary education, which is designed to enhance mutual cultural understanding and empathy amongst students and their families from diverse ethnic backgrounds. Employing a narrative analysis of interpersonal interactions and family stories, the study elucidates that such a listening approach may significantly nurture empathy, understanding, and inclusive learning environments. It illuminates the transformative capacity of embedding human narratives and active emotional sacrificial listening of others into educational practices, underscoring the imperative for meticulous implementation and support to adeptly maneuver through the complexities of sensitive, intercultural discourse.

The Role of Health in the Technology Acceptance Model Among Low-Income Asian American Older Adults: Cross-Sectional Survey Analysis

Background Self-rated health is associated with information and communications technology (ICT) use among older adults. Non–US born, older Asian American individuals are more inclined to rate their health as fair or poor compared to individuals from other racial and ethnic backgrounds. This population is also less likely to use ICTs as compared to White older Americans. Furthermore, cognitive decline may impact technology acceptance. In a previous adaptation of the technology acceptance model for low-income, Asian American older adults, perceived usefulness (PU), perceived ease of use (PEOU), age, educational attainment, ethnicity, and English proficiency were significant predictors of ICT use. However, the association between health and technology acceptance has not been explored among Asian American older adults. Objective This study examined the role of self-rated health and subjective cognitive decline in the acceptance and use of ICTs among low-income, Asian American older adults. Methods This cross-sectional survey included Asian American individuals aged ≥62 years living in affordable housing for older adults (N=392). Using hierarchical multiple regression, we explored the association between self-rated health and ICT use and technology acceptance model mediators (PU and PEOU) while adjusting for demographics, English proficiency, and subjective cognitive decline. Contrast statements were used to estimate contrasts of interest. To further examine the separate and joint association between age and subjective cognitive decline and the dependent variables, we examined scatterplots with locally estimated scatterplot smoothing lines, revealing that the relationship between subjective cognitive decline and ICT use varied in 3 age segments, which led to updating our analysis to estimate differences in ICT use among age categories with and without subjective cognitive decline. Results Self-rated health was not significantly associated with ICT use (β=.087; P=.13), PU (β=.106; P=.10), or PEOU (β=.062; P=.31). However, the interaction terms of subjective cognitive decline and age significantly improved the model fit for ICT use (ΔR2=0.011; P=.04). In reviewing scatterplots, we determined that, in the youngest age group (62-74 years), ICT use increased with subjective cognitive decline, whereas in the older age groups (75-84 and ≥85 years), ICT use decreased with subjective cognitive decline, more so in the oldest age category. Through regression analysis, among participants with subjective cognitive decline, ICT use significantly decreased in the middle and older age groups as compared to the youngest age group. However, among participants without subjective cognitive decline, the difference in use among age groups was not significant. Conclusions This study contributes to the understanding of the complex relationship between health and ICT acceptance among low-income, Asian American older adults and suggests the need for tailored interventions to promote digital engagement and quality of life for this population.

Attacking Muslim Minority Women Online

Abstract Against continuing attempts in Europe to draw an “essentialized” picture of Muslims as a group characterized by foreignness, backwardness, threat, and cultural incompatibility with core European values, this article focuses on the implications of a “racialized” representation of Muslims online, placing emphasis on women. An intersectional analysis of the impact of online hate speech is justified by the fact that this category of persons experience harm as a consequence of the interaction of their gender, religious affiliation, and ethnic origin as identity markers that single them out as “targets” for online hate speech. Taking into account the exponential growth of online hate speech targeting Muslims, the aim of the analysis is to show the need for an intersectional approach to anti-Muslim hatred online, especially in connection with the harm that such speech creates for women. By securitizing Muslim communities, online hate speech sets the basis for serious limitations on the freedom of expression, freedom of association, and political participation of a vulnerable segment of contemporary European societies.

Identifying Barriers and Facilitators to Active Travel Infrastructure Usage Amongst Under-Represented Population Groups in the United Kingdom: A Rapid Systematic Review

Utilising active travel has the potential to positively impact health. Research shows that certain members of society may be less likely to undertake active travel than others, particularly individuals belonging to marginalised population groups such as ethnic minorities and people with disabilities. The aim of this rapid systematic review was to assess the barriers and facilitators to active travel amongst marginalised groups in the United Kingdom. Electronic databases were searched from inception to October 2022. All primary study designs were deemed eligible for inclusion if they investigated either barriers or facilitators to active travel amongst a marginalised population group within the UK. Twelve studies met inclusion criteria encompassing participants from an ethnic minority background, physical disability or a learning disability. Safety concerns were identified as a barrier for each group. Infrastructural barriers were apparent for people with a physical disability. Bike ownership or lack of bike-riding knowledge was a barrier for ethnic minorities. Facilitators identified were provision of recourses in the form of bicycles and training for ethnic minorities, while improved independence and perceived health benefits facilitated active travel amongst people with disabilities. Overall, the included studies were deemed to be of a high risk of bias. There is a lack of high-quality research in this area in the UK context, and future studies should aim to identify ways to improve access to active travel for ethnic minorities, people with disabilities, in addition to other marginalised groups who are currently not represented in the existing literature.

Macrophage activation syndrome in a patient with systemic lupus erythematous triggered by tuberculous meningitis

Background: Hemophagocytic lymphohistiocytosis (HLH), is characterized by systemic uncontrolled inflammation resulting from immune dysregulation secondary to various triggers, including genetics, infections, autoimmune diseases, and malignancies. Macrophage activation syndrome (MAS) is an immune dysregulation phenomenon, in which an underlying rheumatological disease is present. We report a rare, interesting case of a middle-aged female, with a systemic lupus erythematosus (SLE) flare complicated by macrophage activation syndrome (MAS), in which tuberculous meningitis (TBM) was the identified trigger. Case report: A 48-year-old female with an African ethnic background, diagnosed with SLE, presented with a 2-week history of high-grade fever, cough, and worsening arthralgia. She was initially admitted with suspected SLE flare secondary to community acquired pneumonia and was started on broad-spectrum antibiotics. Later during her hospital stay, she underwent extensive workup because of her clinical condition, as she had continuous spikes of fever, progressive cytopenia, accompanied with acute confusion state despite treatment. She was ultimately diagnosed with SLE flare complicated by MAS secondary to TBM in view of persistent fever, neuropsychiatric symptoms, hyperferritinemia and hypertriglyceridemia, supported by bone marrow aspiration findings, a tuberculosis (TB) positive contact and supporting cerebrospinal fluid analysis suggestive of TBM. She was immediately started on pulse doses of steroids and anti-tuberculosis medications in which significant clinical improvement was observed. She was discharged home, with continuity of care done at the outpatient department in addition to continuity of physical rehabilitation. Conclusion: Given the wide range of clinical presentations and similarities between SLE and the life-threatening MAS, it is essential to maintain a high level of suspicion to establish the diagnosis and promptly start the necessary treatment to ensure better clinical and survival outcomes.

Assessing chromatic discrimination in individuals varying in iris color and ethnic origin

Assessing chromatic discrimination in individuals varying in iris color and ethnic origin

Effect of PCSK9 inhibitors on major cardiac adverse events and lipoprotein-a in patients with coronary heart disease: a meta-analysis.

Lipoprotein(a) [Lp(a)] is an independent risk factor for cardiovascular disease due to its unique apo(a) component and its association with atherosclerosis and thrombogenesis. This meta-analysis was conducted to evaluate the effects of PCSK9 inhibitors on major adverse cardiac events (MACE) and Lp(a) levels in patients with coronary heart disease. Randomized controlled trials (RCTs) were systematically searched in PubMed, the Cochrane Library, and other databases. Stata 15.1 software was used for data analysis, and a random- or fixed-effects model was selected based on inter-study heterogeneity. Egger's test was applied to detect publication bias. A total of 12 RCTs were included, involving 48 116 patients with a mean age of 62 years, comprising 65% males and diverse ethnic backgrounds. The results showed that compared with the control group, PCSK9 inhibitors significantly reduced low-density lipoprotein cholesterol (WMD = -1.24 mmol/L, 95% confidence interval (CI): -1.28 to -1.20), total cholesterol, triglycerides, and Lp(a) levels while increasing high-density lipoprotein cholesterol levels. In terms of safety, there was no increased risk of adverse reactions other than injection site reactions. For MACE, PCSK9 inhibitors significantly reduced the risk of nonfatal myocardial infarction, stroke, and coronary revascularization events (RR = 0.87, 95% CI: 0.84-0.89). PCSK9 inhibitors not only significantly improve blood lipid profiles and reduce Lp(a) levels but also reduce the risk of MACE in patients with coronary heart disease. Therefore, PCSK9 inhibitors offer an effective and safe treatment option for these patients.

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.

Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease. Approximately 10% of ALS cases are familial, and more than 20 causative genes have been identified. As we have previously reported, SOD1 variants are the most common causes of familial ALS in Japan. Because antisense oligonucleotides for SOD1-linked ALS are being used in practical applications, the types of variants and the clinical features of patients need to be updated. We consecutively recruited 160 families with familial ALS in Japan. We performed genetic analyses, focusing on SOD1-linked ALS as the most common in our cohort, updated their genotypes, and characterized clinical phenotypes. A total of 26 SOD1 variants in 56 patients and 49 families (30.6%) were collected, with the 3 most common (p.His47Arg [the conventional numbering; H46R], p.Leu127Ser [L126S], p.Asn87Ser [N86S]) accounting for 38.8% of all families. We also identified 2 novel variants (p.Ile36Phe [I35F] and p.Asn132Argfs*3 [N131Rfs*3]). The mean age at onset was 48.9 ± 12.2 (mean ± SD) years for all patients with SOD1-linked ALS. Lower limb onset comprised 70% of cases. The mean disease duration was 64.7 ± 82 months, and the median survival was 71.5 months. Some variants led to a relatively homogeneous phenotype, although clinical characteristics differed among types of variants and families. Patients with p.His47Arg (H46R) showed slower progression with lower limb onset and a predominance of lower motor neuron involvement. The p.Leu127Ser (L126S) variant led to varying degrees of progression in heterozygous or homozygous states and presented incomplete penetrance. Intrafamilial phenotypic differences were observed in families carrying p.Asn87Ser (N86S). Four variants (p.Cys7Gly [C6G], p.His44Arg [H43R], p.Leu85Val [L84V], and p.Cys147Arg [C146R]) were found to be associated with rapid disease progression. The genetic basis of familial ALS, at least for SOD1 variants, still differed by geographic and ethnic background. Understanding these clinical profiles will help optimize evaluation in targeted gene therapy worldwide and benefit efficient diagnosis, leading to precise application in clinical practice.