Search Results (51)

Background: Haemoglobinopathies are among the most common monogenic disorders worldwide. Early identification of asymptomatic carriers through reliable screening and molecular diagnostics is crucial for prevention programmes, especially in high-prevalence regions such as Southern Italy. Methods: A total of 5243 individuals were analysed between 2013 and 2024 using both biochemical and genetic parameters. First-level screening included full blood count, iron status, and high-performance liquid chromatography (HPLC) for haemoglobin variant quantification. Molecular analyses were performed using next-generation sequencing (NGS) for the HBA1, HBA2, and HBB genes. Results: We identified 267 individuals (11.2%) as carriers of α-thalassaemia and 473 individuals (16.7%) as carriers of β-thalassaemia. Among them, 5 were compound heterozygotes and 3 homozygous for the α-3.7 deletion. A rare case of HbG Philadelphia in association with a triplicated α-gene was also observed. The most common β-globin mutations included c.118C>T (β⁰39, 44%), IVS-I-110 (17.7%), IVS-I-6 (12.7%), and IVS-I-1 (12.3%). Among α-globin mutations, the most prevalent were -α^3.7 (48%), α2 IVS1 -5nt (15.4%), -20.5 Kb (14.2%), and triplicated α (11%). In total, 18.7% of individuals were found to carry either α- or β-thalassaemia traits. Conclusion: Our findings highlight the limitations of traditional diagnostic methods—such as the osmotic fragility test—and the importance of integrating haematological, biochemical, and molecular data to accurately identify thalassaemia carriers. The variability of genotype–phenotype correlations, especially in the context of immigration and genetic diversity, underscores the need for comprehensive molecular analysis. We propose a three-step diagnostic algorithm combining first-level screening, iron status assessment, and NGS-based sequencing for inconclusive cases. Full article

The Knanaya Christians, also referred to as Thekkumbhagar or Southists, represent a distinct endogamous group within the wider community of Saint Thomas Christians of southern India. Their origins can be traced to the arrival of Jewish Christians led by Knai Thoma or Thomas of Cana, who migrated to the Malabar Coast from Persia in 345CE. Upon their arrival, they mingled with the established Christian population of the Malabar Coast, known as the Vadakkumbhagar or the Northists, whose roots extend back to the apostolic mission of Saint Thomas in the 1st century CE. However, the Knanaya Christians have successfully preserved their unique identity through the practice of endogamy, which keeps their bloodlines separate from those of the Vadakkumbhagar, while also maintaining a spiritual connection and liturgical continuity with the latter. Despite their matrimonial exclusivity, the Knanaya Christians have followed the same developmental path as the larger Thomas Christian community, sharing liturgical practices, enjoying similar privileges, facing the same challenges during the Portuguese era, experiencing divisions in the 17th century, and striving to preserve their identity. The migration of this endogamous community to other parts of the world since the mid-20th century, in similar lines with different groups of Thomas Christians, has posed challenges to their traditions and practices, especially endogamy. This paper explores how Knanaya Christians maintain and adapt their endogamous marriage traditions in transnational settings by focusing on how Knanaya religious authorities and lay members collectively negotiate these tensions—whether by reinforcing endogamy or adapting it in response to shifting realities in North American settings. Full article

In Esther 3:8–9, the central conflict of the book is introduced through the antagonist, Haman the Agagite, who argues through half-truth that because the Jews are scattered and separated amongst the people and have different laws from every other people, they should not be tolerated and instead should be annihilated. Although there is disagreement about when the book was written, the Persian kingdom is featured narratively as in power; King Ahasuerus is depicted as accepting genocide as an appropriate peacekeeping method. Many discussions on the central conflict focus on Haman, as Persia and its hegemony are depicted in the book as emotional and farcical, leaving many to dismiss its impact. Too often, with emphasis on Persian power at this time as generally benevolent, gracious, and accepting toward Others in biblical texts and scholarship, much is missed involving the insidious nature of how hegemonic powers still code and reify what differences ‘we’ deem threatening. Comparing, then, the discussions and use of multiculturalism in Western empires in current social scientific studies to rhetoric and practice in the scholarship and book of Esther, this article will address the underlying issues less discussed regarding Haman’s polemic, and the cost of “being tolerated” amongst the minoritized, including Haman. Full article

Background: Traditionally, community-based education (CBE) programmes have been utilised for teaching medical students clinical and interpersonal skills through placement in underserved environments. This pilot cohort study tested an extended model of CBE by infusing patient education into student-conducted consultations with the dual objectives of stimulating improved learning for the students and improved health literacy for the patients. Methods: The intervention involved 38 final-year medical students and 85 adult patients and from underprivileged communities in North West London. The students first undertook online preparatory workshops on health literacy, communication skills, and cultural competence. Subsequently, they imparted 20–30 min educational sessions on chronic disease management and preventive care to the patients on their clinical placements. The quantitative measurement used pre- and post-intervention questionnaires, and the qualitative measurement was based on reflective diaries and patient feedback. Paired t-tests were used for statistical comparisons, while a thematic analysis was used for textual answers. Results: Student confidence in breaking down medical jargon improved from 2.8 ± 0.7 to 4.4 ± 0.5 (p < 0.01), and confidence in making use of visual aids improved from 2.5 ± 0.8 to 4.2 ± 0.6 (p < 0.01). Understanding among the patients of their health conditions improved from 27% to 74% (p < 0.001), and self-confidence in their ability to manage their health improved from 31% to 79% (p < 0.001). The qualitative feedback noted improved empathy, cultural sensitivity, and a positive effect on patient empowerment through tailored education. Conclusions: This CBE intervention had two benefits: improving teaching and communication skills in students and greatly enhancing health literacy in underserved patients. The integration of structured education into usual care encounters holds the promise of a scalable, sustainable method for addressing health disparities. Longer longitudinal studies are necessary to assess its long-term success and incorporation into medical education. Full article

The dialogue between Christianity and Buddhism began during the Tang dynasty (618–907) when East Syrian Christian missionaries from Persia arrived in China in 635. At this time, Buddhism was prospering under the Tang Empire, and the “Church of the East” was established, known as the “Brilliant (or Radiant) Teaching” (Jingjiao 景教). Historical records and archaeological evidence indicate that the Jingjiao church employed the method of “matching concepts” (geyi 格義). This methodology, initially utilized in the early stages of Buddhism’s dissemination from India and Central Asia to China for the translation of Buddhist texts, was similarly applied to the translation of Christian texts and concepts. These translation efforts and dissemination activities represent the earliest documented encounters between Christianity and Buddhism in premodern times. Furthermore, recent archaeological discoveries reveal that the dialogue between the two religions in China transpired through textual and visual representations (iconography) in the form of “borrowing pictures”. This study investigates these interactions across disciplines, exploring the evidence of early cultural exchange between Buddhism and Christianity while reviewing the motivations behind the missionaries’ translation and dissemination activities. It addresses pivotal questions regarding these early dialogues by examining the proselytization strategies employed and analyzing the reasons why imperial authorities sanctioned Christian activities and facilitated their propagation during the Tang dynasty. Full article

Background: The first year of life is the period of greatest brain plasticity. Postpartum depression can adversely affect the first interactions with the child and, consequently, their emotional, social, and cognitive development. Objectives: First, to describe the developmental profile of six-month-old infants of mothers suffering from severe postpartum depression, and, second, to compare the development of infants whose mothers suffer from depression with or without bipolar disorder. Methods: This is a retrospective descriptive study on 6-month-old babies hospitalized with their mothers at the Marseille Mother–Baby Unit (MBU) for maternal postpartum depression with or without bipolar disorder. Mothers were clinically diagnosed by a psychiatrist specialized in postpartum depression using the DSM-5; infant development was assessed at 6 months by an independent health professional using the revised Brunet–Lézine Scale, which allowed the calculation of global and partial developmental quotients (DQ). Results: We followed 40 mother–infant dyads. None of the 40 infants had a global developmental delay. However, maternal depression was significantly associated with poorer sociability (mean sociability DQ score of 94 ± 9.6, p < 0.001) and lower postural development (mean postural DQ score of 96.2 ± 8.9 *, p < 0.001) in the infants at 6 months of age. Postural development was significantly lower in children of bipolar mothers than in children of non-bipolar mothers (p = 0.03). Conclusions: Postpartum depression was associated with a weakness in sociability and posture at the age of 6 months, without relevant developmental delay. Screening infants at an early age with specific tools allows for earlier intervention, which would positively influence their developmental trajectory. Full article

Introduction: Generally, microcytic anaemia is caused by sideropenia or a genetic gap. The suspicion that microcytic anaemia is caused by a genetic gap must always be considered in the face of an inadequate response to martial therapy. The aim of this paper is to highlight how biochemical diagnosis alone is sometimes not sufficient to understand the cause of microcytic anaemia. For this reason, for a correct genotype–phenotype correlation, it is essential to identify the defective gene underlying the microcytic anaemia. Detailed Case Description: This case concerns a married couple who both have microcytic anaemia. They came to our attention because the lady, pregnant at 12 weeks, underwent screening for chromosomal abnormalities using combined tests in the first trimester of pregnancy. A biochemical screening performed ten years earlier showed that both spouses were healthy carriers of the beta-thalassemia trait. A careful analysis of the biochemical data and an in-depth molecular diagnosis of the alpha and beta globin genes showed that the woman was a healthy carrier of the beta-thalassemia trait while the husband was a healthy carrier of a mutation in the ALAS2 gene. Analysis of the biochemical data of her husband and family members revealed that she had X-linked microcytic sideroblastic anaemia caused by an alteration in the function of the ALAS2 (5′-Aminolevulinate Synthase 2) gene located on the short arm of the X chromosome (Xp11.21). Discussion and Conclusions: This result is very relevant as, during genetic counselling, we explained to the couple that invasive prenatal diagnosis was not necessary as there is no risk of procreating a transfusion-dependent individual. Full article

Yaoundé, the capital of Cameroon, is one of the cities in the country most affected by road traffic crashes. Despite the measures taken by authorities, the human factor remains a major cause of these crashes. This study aimed to evaluate the measures taken to reduce the risk-taking behaviors of collective taxi drivers in Yaoundé. A survey of 144 collective taxi drivers was conducted to gather information on their driving habits, adherence to, and perceived effects of safety regulations. The study revealed the following prevalence of risky driving behaviors among collective taxi drivers: 41.33% for impaired driving; 67% for speeding, 62% for disobeying traffic lights, 68.86% for distraction; and 67% for risky maneuvering on the road. Significant associations were found between risk perceptions and involvement in risky driving behaviors. Associations were also established between the frequency of police inspections and involvement in risky behaviors, between the participation in training programs on safety issues and using poorly maintained vehicles, and between the frequency of awareness campaigns and poor maneuvering on the road. To address these issues, it is essential to strengthen preventive measures on risk factors, raise awareness on a large scale and on a regular basis, and strictly enforce the existing regulations. Full article

(1) Background: Helmet Continuous Positive Airway Pressure (H-CPAP) has primarily been used in intensive care settings to treat moderate-to-severe bronchiolitis in infants. We aim to report on the feasibility of H-CPAP for selected infants with bronchiolitis in a pediatric ward. (2) Methods: A retrospective, observational, consecutive case series was studied of 26 patients who received H-CPAP on the pediatric ward from October 2022 to February 2023, including a description of patient outcomes and costs. (3) Results: Of 130 infants with bronchiolitis admitted to Bambino Gesù Hospital in Rome, 34 were hospitalized for moderate to severe bronchiolitis, and 26 began H-CPAP on the ward. Among the 26 pediatric patients who received H-CPAP on the ward, 4 out of 26 (15%) required transfer to the PICU within the first hours of care due to clinical deterioration. No problems with the H-CPAP interface or side effects attributable to H-CPAP were reported. Pharmacological sedation with a single dose of dexmedetomidine was required for 15/26 patients (57%) following failure of non-pharmacological anxiety reduction strategies. After introducing H-CPAP in our pediatric ward, we achieved total cost savings of approximately EUR 147,120. (4) Conclusions: Treatment with H-CPAP for infants with bronchiolitis may be feasible in non-intensive care settings with trained staff, appropriate monitoring, and rapid access to pediatric intensive care. Full article

Background: Mitochondria are considered the powerhouse of cells, and skeletal muscle cells are no exception. However, information regarding muscle mitochondria from different species is limited. Methods: Different muscles from cattle, pigs and chickens were analyzed for mitochondrial DNA (mtDNA), protein and oxygen consumption. Results: Bovine oxidative muscle mitochondria contain greater mtDNA (p < 0.05), protein (succinate dehydrogenase, SDHA, p < 0.01; citrate synthase, CS, p < 0.01; complex I, CI, p < 0.05), and oxygen consumption (p < 0.01) than their glycolytic counterpart. Likewise, porcine oxidative muscle contains greater mtDNA (p < 0.01), mitochondrial proteins (SDHA, p < 0.05; CS, p < 0.001; CI, p < 0.01) and oxidative phosphorylation capacity (OXPHOS, p < 0.05) in comparison to glycolytic muscle. However, avian oxidative skeletal muscle showed no differences in absolute mtDNA, SDHA, CI, complex II, lactate dehydrogenase, or glyceraldehyde 3 phosphate dehydrogenase compared to their glycolytic counterpart. Even so, avian mitochondria isolated from oxidative muscles had greater OXPHOS capacity (p < 0.05) than glycolytic muscle. Conclusions: These data show avian mitochondria function is independent of absolute mtDNA content and protein abundance, and argue that multiple levels of inquiry are warranted to determine the wholistic role of mitochondria in skeletal muscle. Full article

Background: The aging population is associated with a net increase in the incidence and prevalence of chronic-degenerative diseases, particularly neurocognitive disorders. Therefore, the identification of preventative strategies to restrain the burden of such chronic conditions is of key relevance. Red wine and its components have accumulated evidence regarding their positive effects in terms of neurological pathologies associated with neurocognitive symptoms. Methods: Based on this background, the present narrative review aims to summarize the state-of-the-art evidence on the effects of red wine and its components on neurocognitive disorders in both preclinical and clinical settings. Results: The main findings highlight a protective effect of wine polyphenols present in red wine on dementia in different preclinical models of cognitive decline. The current translational clinical evidence remains uncertain, especially considering the risk-to-benefit ratio of alcohol consumption on brain health. Conclusions: Given the overall health risks associated with red wine consumption and consistent with the prevailing guidelines in the literature, there is insufficient evidence to support light-to-moderate red wine consumption as an effective strategy for preventing these diseases. However, the largely preclinical findings on polyphenols derived from red wine remain of significant interest in this context. Full article

In the pursuit of sustainable mobility and the decarbonization of transport systems, public authorities are increasingly scrutinizing the impact of travel speed on emissions within both low-speed and high-speed environments. This study critically examines the evidence concerning emission impacts associated with speed limit changes in different traffic environments by conducting a systematic review of the literature in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 25 studies that met the eligibility criteria were assessed. The results reveal mixed evidence for reducing emissions through speed limit reductions in low-speed areas. However, emerging evidence suggests that reduced urban speeds may abate emissions through enhanced traffic flow and a shift in modal preferences away from personal vehicle use. Additionally, in urban areas, minor observed emission reduction per vehicle can add up to large overall reductions due to the high number of vehicles. In high-speed contexts, the evidence is much clearer, showing that reduced speed limits correlate with significant reductions in NOx, CO₂, and particulate matter emissions. The extent of these reductions is highly variable and contingent upon the specific speed limits or limit reductions, the local context, the vehicle type, and the baseline types and levels of pollutants. Notably, there is a lack of research on the effects of speed on emissions, especially in low- and middle-income countries (LMICs), highlighting a critical area for future investigation. The findings of this study underscore the potential environmental benefits of speed management policies and advocate for the promotion of smoother and less aggressive driving behavior to mitigate emissions and enhance sustainable mobility in both low-speed and high-speed settings. Full article

Following preliminary underwater observations of about 1000 h carried out monthly between 2012 and 2023 (except the years 2021 and 2022), 23 specimens of grey reef sharks were spotted and photo-identified off the coast of Nosy Be in Madagascar, on an emerging reef called “Mokarran” at a depth between 15 and 30 m. Over 10 years of observations, eight specimens were re-sighted, identified with a non-invasive photo-identification technique of part of the first dorsal and the caudal fin, and one specimen was re-identified after 1982 days from the first sighting, i.e., after more than 5 years. In addition, six specimens of probably pregnant females were also identified in the same area. The population was entirely made up of females. The aggregation area could represent a new nursery site which, if confirmed after further investigations, will require greater protection. Full article

Peach (Prunus persica), a significant economic fruit tree in the Rosaceae family, is extensively cultivated in temperate and subtropical regions due to its abundant genetic diversity, robust adaptability, and high nutritional value. Originating from China over 4000 years ago, peaches were introduced to Persia through the Silk Road during the Han Dynasty and gradually spread to India, Greece, Rome, Egypt, Europe, and America. Currently grown in more than 80 countries worldwide, the expansion of peach cultivation in Egypt is mainly due to the development and utilization of peach varieties with low chilling requirements. These varieties exhibit unique phenotypic characteristics such as early maturity, reduced need for winter cold temperatures, low water requirements, and high economic value. In this study, a systematic analysis was conducted on the genetic characteristics and kinship relationships of peaches with low chilling requirements in Egypt. We conducted a comprehensive evolutionary and Identity-by-Descent (IBD) analysis on over 300 peach core germplasm resources, including Egyptian cultivars with low chilling requirements, to investigate their origin and genetic characteristics. The evolutionary analysis revealed that ‘Bitter almond’ is closely related to China’s wild relative species Prunus tangutica Batal, while ‘Early grand’ shares one branch with Chinese ornamental peach cultivars, and ‘Nemaguard’ clusters with some ancient local varieties from China. The IBD analysis also indicated similar genetic backgrounds, suggesting a plausible origin from China. Similarly, the analysis suggested that ‘Swelling’ may have originated from the Czech Republic while ‘Met ghamr’ has connections to South Africa. ‘Desert red’, ‘Early swelling’, and ‘Florida prince’ are likely derived from Brazil. These findings provide valuable insights into the genetic characteristics of Egyptian peach cultivars. They offer a significant foundation for investigating the origin and spread of cultivated peaches worldwide and serve as a valuable genetic resource for breeding low chilling requirement cultivars, which is of considerable significance for the advancement of peach cultivation in Egypt. Full article

Speeding is a significant global issue, with disparities in speed and safety outcomes between low- and middle-income countries (LMICs) and high-income countries (HICs). This study aims to address speed research gaps in LMICs by examining the prevalence of self-reported speeding and factors influencing drivers’ speeding behavior using the Theory of Planned Behavior (TPB). An online survey involving 387 anonymous drivers was conducted in Yaoundé. Results showed that all drivers reported exceeding speed limits, with 81% exceeding them by 5 km/h, 12% by 10 km/h, and 7% by more than 10 km/h in urban areas. On highways, 54% reported exceeding the limit by more than 10 km/h. Age, driver’s license, and gender showed significant associations with speed limit non-compliance. This study’s results suggest that the TPB can be useful in assessing speeding behavior, as the inclusion of TPB variables led to a more than 50% proportionate increase in speeding behavior variance. Structural equation modeling revealed attitude towards speeding as the strongest predictor of speeding intention, along with certain demographics indirectly influencing speeding behavior through speeding intention. Perceived behavioral control and speeding intention directly influenced speeding behavior. These findings emphasize the potential of interventions targeting attitude, intentions, and perceived behavioral control to modify speeding behavior and improve road safety. Full article