Search Results (18)

(1) Background: In Saudi Arabia, a high-income country with a publicly funded healthcare system, sickle cell disease (SCD) remains a major pediatric health challenge. This study aimed to identify factors associated with healthcare utilization, specifically inpatient (IP), outpatient (OP), and emergency department (ED) visits, among children with SCD in Saudi Arabia. (2) Methods: A retrospective observational study was conducted using data from the KAIMRC registry (2015-2023), including 450 children under 12 years old diagnosed with SCD. Negative binomial regression models were employed to analyze the annual average visits, accounting for clinical, demographic, and regional healthcare resource variables. (3) Results: Key predictors of IP visits included complication count, crisis episodes, and region (eastern, western, and southern regions had higher utilization than central). ED visits were positively associated with complications, crisis episodes, and hydroxyurea use, but negatively associated with bone marrow transplant receipt. OP visits increased with higher Charlson Comorbidity Index scores, age, and bone marrow transplant, but were lower in the eastern region. (4) Conclusions: These findings highlight the influence of clinical and regional factors even within an equitable, high-resource healthcare system. Full article

This study investigated the role of SCD5 in bovine preadipocyte proliferation and adipogenic differentiation. SCD5 overexpression suppressed proliferation, reducing the percentage of EdU-positive cells and overall cell viability (p < 0.05). It also downregulated proliferative factors CDK1 and CDK2 (p < 0.05), and reduced lipid accumulation (p < 0.001) along with key adipogenic markers PPARγ, C/EBPα, and FABP4 (p < 0.01). Conversely, SCD5 knockdown promoted these processes. Mechanistically, SCD5 overexpression downregulated WNT5B (p < 0.05), while knockdown had the opposite effect. Silencing WNT5B significantly decreased β-catenin transcription (p < 0.05), total protein (p < 0.05), and phosphorylation (p < 0.001). In conclusion, our findings identify SCD5 as a novel negative regulator of bovine preadipocyte proliferation and differentiation, which exerts its function through the WNT5B/β-catenin signaling axis. This discovery elucidates previously uncharacterized regulatory mechanisms underlying adipogenesis in livestock species. Full article

This study aims to provide potential biomarkers and reveal the molecular mechanism of sudden coronary death (SCD). Rat models of atherosclerotic death (ASD), coronary atherosclerosis (AS), and acute myocardial ischemia (AMI) and sham groups were established via the gavage of high-fat emulsion and left coronary artery ligation. The myocardium was collected, and transcriptome sequencing was performed. Differentially expressed miRNAs (DEmiRNAs) were identified using edeR software. The target genes were predicted using TargetScan, and functional enrichment analysis was performed via KEGG. Then, an miRNA–mRNA interaction network was constructed using Cytoscape. The key miRNAs with biomarker potential were identified using LASSO regression. A total of 217, 224, and 86 DEmiRNAs were identified in the ASD, AS, and AMI groups compared with the sham group, respectively. The Ras and Rap1 pathways were mainly expressed in ASD. The β-alanine and sphingolipid metabolisms were expressed in AMI. Finally, miR-106b, miR-195, miR-33, miR-652, miR-466b, and miR-6321 were identified as biomarkers of ASD. MiR-205, miR-877, miR-325, and miR-344b were identified as biomarkers of AMI. miR542-Atg12 was involved in the RIG-I-like receptor signaling pathway, miR6328-Gstz1 was involved in tyrosine metabolism, and miR483-Dusp5 was involved in the MAPK signaling pathway. This study provides a reference for the identification of SCD in forensic pathology. Full article

Background: The coexistence of sickle cell disease (SCD), vascular Ehlers–Danlos syndrome (vEDS), primary ciliary dyskinesia (PCD), and Phelan–McDermid syndrome (PMS) in a single pediatric patient is extremely rare and poses substantial diagnostic and management challenges. Case presentation: We report an 8-year-old male from Jazan, Saudi Arabia, born to consanguineous parents, with early-onset SCD, followed by the identification of vEDS, PCD, and PMS through clinical presentation and whole exome sequencing. His disease course has been exceptionally severe, marked by monthly hospitalizations, multiple PICU admissions, and a wide spectrum of systemic complications. Conclusions: The coexistence of SCD, vEDS, PCD, and PMS may lead to synergistic vascular, pulmonary, and neurodevelopmental compromise, demanding multidisciplinary long-term management. This case underscores the need for a comprehensive targeted genetic assessment in patients with unusually aggressive or syndromic SCD phenotypes, particularly in regions with high levels of consanguineous marriages. Full article

Background/Objectives: Children with sickle cell disease (SCD) often experience limited access to care, contributing to poor health outcomes. Patient-level predictors and outcomes associated with telehealth use among Medicaid-enrolled children with SCD remain unknown. This study aims to (1) analyze telehealth trends before and during the pandemic (March 2020–March 2022), (2) identify patient-level predictors of telehealth use, (3) assess its association with care continuity and health outcomes, and (4) identify physician specialties involved in telehealth visits. Methods: Using Texas Medicaid claims (March 2017–March 2022), we conducted a retrospective analysis of children aged 1–18 with ≥3 SCD-related claims. Monthly trends in outpatient visits (in-person and telehealth) were visualized from March 2019 to March 2022. Multivariable regression models examined predictors of telehealth use and associations with ≥10 hydroxyurea fills, emergency department (ED) visits, and hospitalizations, adjusting for age, sex, regions with SCD clinics, and prior healthcare utilization. Results: Among 903 included patients (mean [SD] age = 10.4 [4.1], 52.6% male), 59.4% had ≥1 telehealth visits between March 2019 and March 2022. Telehealth use peaked between March 2020 and May 2020, then gradually declined. Children with ≥10 SCD-related outpatient visits 1 year before the lockdown (March 2019–February 2020) had 77.4% higher odds of using telehealth compared to those with 0–4 visits (OR = 1.774, 95% CI = 1.281–2.457, p = 0.0006), while controlling for sociodemographic characteristics. However, SCD-related telehealth use during the pandemic was not associated with either ≥10 hydroxyurea fills or reduced ED visits. Prior healthcare utilization remained a strong predictor of both outcomes. The majority of telehealth visits were conducted at multispecialty clinics (74%). Conclusions: Telehealth use surged early in the pandemic but later declined among Texas Medicaid-enrolled children with SCD. Children with high healthcare needs adopted telehealth, but this did not impact care continuity or extensive healthcare utilization. While maintaining telehealth access, other measures should be implemented to improve access and outcomes for this vulnerable population. Full article

The inappropriate thermal conditions resulting from increasingly severe climate issues have led to numerous complications for urban residents, decreased urban settlement comfort, and increased average and peak energy demands in built environments. Existing studies have demonstrated the significant influence of urban morphology (UM) on the urban thermal environment (UTE); however, at the meso-scale and macro-scale, UTE is often simplified to land surface temperature (LST) and building surface temperatures. To investigate the impact of UM on UTE, we developed an evaluation framework consisting of thermal sensing feedback (TSF) and LST. We employed the seven-level TSF scale to evaluate TSF data obtained from the Internet, emphasizing individualized thermal perceptions of urban spaces and reorienting UTE research towards a human-centric perspective. Using a regression model, we examined the relationships between two-dimensional and three-dimensional UM variables and UTE at the meso-scale in the central urban area of Shanghai, China, during August and December 2024. The results indicated the following: (1) The normalized difference vegetation index (NDVI), building density (BD), floor area ratio (FAR), impervious surface index (ISI), building height (BH), average building volume (ABV), sky view fraction (SVF), and building shape (BS_sh) effectively explained TSF. However, area weighted mean shape index (SHAPE_AM), aggregation index (AI), edge density (ED), elevation, building spacing (BS_sp), and spatial congestion degree (SCD) showed no significant correlation with TSF. (2) Significant variables, including NDVI, FAR, ISI, UM, BD, and BH, exhibited opposite effects on cold perception in winter compared to heat perception in summer, indicating a consistent influence on thermal perception across seasons. (3) In summer, the significant variables SVF, BS_sh, and ISI showed opposite effects on TSF and LST, while in winter, FAR demonstrated contrasting impacts on TSF and LST. The results of this study advance understanding of the mechanisms through which UM influences UTE, providing valuable insights for the development of sustainable, thermally comfortable urban environments. Full article

Background: Sickle cell disease (SCD) is a rare autosomal recessive disorder that is common in countries with consanguineous marriages. It leads to various complications, including painful episodes, infections, delayed growth, stroke, and organ damage, which contribute to high healthcare utilization and costs. In Saudi Arabia, the prevalence of SCD is notably high, largely due to the frequency of consanguineous marriages. However, there has not yet been a study estimating the direct medical costs of managing SCD based on real-world data. This study aims to assess these costs in Saudi Arabia. Methods: Data were collected from electronic medical records (EMRs) at a university-affiliated tertiary care center. A micro-costing approach was used to estimate the direct medical costs (e.g., laboratory tests, imaging, emergency department visits, hospitalizations, prescription medications, outpatient visits, etc.) retrospectively over a 12-month follow-up period. The baseline characteristics of the patients were presented using frequencies and percentages. The costs of different healthcare services were analyzed using means and the 95% confidence intervals. A generalized linear model (GLM) with a gamma distribution was utilized to examine the association between the overall costs and patient characteristics (e.g., age, gender, duration of illness, surgeries, blood transfusions, etc.), allowing for the estimation of the adjusted mean costs. Results: A total of 100 patients met the inclusion criteria and were included in the analysis. The mean age of the patients was 10.21 years (±6.87 years); 53% were male, and a substantial majority (96%) had the HbSS genotype. Sixty-one percent of the patients had undergone at least one red blood cell (RBC) exchange transfusion, while 21% had undergone surgical procedures, including tonsillectomy, splenectomy, and cholecystectomy. Additionally, 45% had experienced at least one vaso-occlusive crisis (VOC), and 59% had been hospitalized at least once in the past 12 months. Factors such as the frequency of laboratory tests and imaging studies, the length of hospital stay (LOS), the rate of emergency department (ED) visits, surgical procedures, the number of prescription medications, and the frequency of blood transfusions were all significant predictors of higher direct medical costs (p < 0.05). The estimated mean annual direct medical costs per patient were USD 26,626.45 (95% CI: USD 22,716.89–USD 30,536.00). After adjusting for various factors, including age, gender, duration of illness, frequency of lab and imaging tests, LOS, ED visits, surgical procedures, number of prescription medications, rates of VOCs, and RBC exchange transfusions, the adjusted mean annual direct medical cost per patient was calculated to be USD 14,604.72 (95% CI: USD 10,943.49–USD 19,525.96). Conclusions: The results of this study emphasize the substantial direct medical costs linked to sickle cell disease (SCD), which are greatly affected by the frequency of related complications. These insights should motivate policymakers and healthcare researchers to assess both the national direct and indirect costs associated with SCD, especially given the significant number of SCD patients in Saudi Arabia. Full article

When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), COL4A1, COL4A2 pathogenic variant, Ehlers–Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture. Full article

Background: Painful vaso-occlusive episodes (VOEs) are the hallmark of sickle cell disease (SCD) and account for frequent visits to the emergency department (ED) or urgent care (UC). Currently, the early administration of analgesics is recommended as initial management; however, there is a need for further understanding of the effect of prompt analgesics and hydration during VOEs. The objective of this study is to analyze the factors associated with the rate of hospital admission in the setting of time to intravenous (IV) analgesics and hydration. Method: This retrospective single-institution study reviewed adult and pediatric patients with SCD who presented with VOEs from January 2018 to August 2023. Results: Of 303 patient encounters, the rates of admission for the overall group, the subgroup which received IV hydration within 60 min of arrival, and the subgroup which received both IV analgesics and hydration within 60 min were 51.8%, 25.6% (RR = 0.46), and 18.2% (RR = 0.33), respectively. Further, factors such as gender and the use of hydroxyurea were found to be significantly associated with the rate of admission. Conclusions: This signifies the importance of standardizing the management of VOEs through the timely administration of IV analgesics and hydration in both adult and pediatric ED/UC. Full article

This study aimed to accurately grasp the impact mechanism and change rule of buildings and green spaces on land surface temperature (LST), which is of great significance for alleviating urban heat islands (UHIs) and formulating adaptation measures. Taking Jinan, China, as the study area, combined multisource remote sensing data were used in this study to construct an index system of the influencing factors. We used a spatial regression model to explore the relative contribution of the influencing indicators on LST. We also drew a marginal utility curve to quantify the heating/cooling effect of the leading indicators. The results showed that, firstly, among the 3D building indicators, the leading indicators affecting LST were the degree of spatial convergence (SCD) and the building surface area (BSA). Among the green space indicators, the largest patch index (LPI), green coverage rate (GCR), and edge density (ED) were significantly negatively correlated with LST. Secondly, when we considered the 15 indicators comprehensively, SCD was the most influential indicator, with a contribution of 24.7%, and the contribution of the green space indicators to LST was significantly reduced. Thirdly, among the leading indicators, SCD was positively correlated with LST. When SCD was less than 60%, LST increased by about 0.38 °C for every 10% increase. When GCR > 44%, LST was significantly reduced, and when GCR > 62%, a cooling effect of 1.1 °C was observed. Beyond this threshold, the cooling effect will not improve significantly. This study shows that when 3D buildings are densely distributed and crowded, the cooling effect of green space will be limited to some extent by 3D buildings. The key to mitigating UHIs is to rationally configure and optimize the spatial structure of 3D buildings. Full article

It was shown that microRNAs (miRNAs) play an important role in the synthesis of milk fat; thus, this manuscript evaluated whether exogenous miRNA (xeno-miRNAs) from alfalfa could influence the milk fat content in dairy cows. At first, mtr-miR168b was screened from dairy cow milk and blood. Then, EdU staining, flow cytometry, Oil Red O staining, qRT-PCR, and WB were applied to explore the effect of xeno-miR168b on the proliferation, apoptosis, and lipid metabolism of bovine mammary epithelial cells (BMECs). Finally, in order to clarify the pathway that regulated the lipid metabolism of BMECs using xeno-miR168b, a double-luciferase reporter assay was used to verify the target gene related to milk fat. These results showed that overexpression of xeno-miR168b inhibited cell proliferation but promoted apoptosis, which also decreased the expression of several lipid metabolism genes, including PPARγ, SCD1, C/EBPβ, and SREBP1, significantly inhibited lipid droplet formation, and reduced triglyceride content in BMECs. Furthermore, the targeting relationship between CPT1A and xeno-miR168b was determined and it was confirmed that CPT1A silencing reduced the expression of lipid metabolism genes and inhibited fat accumulation in BMECs. These findings identified xeno-miR168b from alfalfa as a cross-kingdom regulatory element that could influence milk fat content in dairy cows by modulating CPT1A expression. Full article

Zinc is an important trace mineral in the human body and a daily intake of zinc is required to maintain a healthy status. Over the past decades, zinc has been used in formulating topical and systemic therapies for various skin disorders owing to its wound healing and antimicrobial properties. Zinc transporters play a major role in maintaining the integrity of the integumentary system by controlling zinc homeostasis within dermal layers. Mutations and abnormal function of zinc-transporting proteins can lead to disease development, such as spondylocheirodysplastic Ehlers–Danlos syndrome (SCD-EDS) and acrodermatitis enteropathica (AE) which can be fatal if left untreated. This review discusses the layers of the skin, the importance of zinc and zinc transporters in each layer, and the various skin disorders caused by zinc deficiency, in addition to zinc-containing compounds used for treating different skin disorders and skin protection. Full article

Background: Sickle cell disease (SCD) is a hemoglobinopathy that causes debilitating pain. Patients often report dissatisfaction during care seeking for pain or a sickle cell crisis (SCC). The Theory of Self-Care Management for SCD conceptualizes assertive communication as a self-care management resource that improves healthcare outcomes. Objectives: This pilot study aimed to determine whether adults with SCD could learn to use the Situation, Background, Assessment, Recommendation (SBAR) communication method using a web-based trainer, and it aimed to determine their perceptions of the training. Methods: The participants included n = 18 adults with SCD. Inter-rater reliability (IRR) among three reviewers was used to evaluate the participants’ ability to respond as expected to prompts using SBAR communication within the web-based platform. Content analysis was used to describe the participants’ perspectives of the acceptability of using the SBAR patient–HCP communication simulation. Results: The SBAR IRR ranged from 64 to 94%, with 72% to 94% of the responses being evaluated as the using of the SBAR component as expected. The predominant themes identified were (1) Patient–Provider Communication and Interaction; (2) Patients want to be Heard and Believed; (3) Accuracy of the ED Experience and Incorporating the Uniqueness of each Patient; and (4) the Overall Usefulness of the Video Trainer emerging. Conclusions: This pilot study supported the usefulness and acceptability of a web-based intervention in training adults with SCD to use SBAR to enhance patient–HCP communication. Enhancing communication may mitigate the barriers that individuals with SCD encounter during care seeking and improve the outcomes. Additional studies with larger samples need to be conducted. Full article

Design of Experiments (DoE) is a statistical tool used to plan and optimize experiments and is seen as a quality technology to achieve products excellence. Among the experimental designs (EDs), the mixture designs (MDs) stand out, being widely applied to improve conditions for processing, developing, or formulating novel products. This review aims to provide useful updated information on the capacity and diversity of MDs applications for the industry and scientific community in the areas of food, beverage, and pharmaceutical health. Recent works were selected following the Preferred Reporting Items for Systematic Review and Meta-Analyses statement (PRISMA) flow diagram. Data analysis was performed by self-organizing map (SOM) to check and understand which fields of application/countries/continents are using MDs. Overall, the SOM indicated that Brazil presented the largest number of works using MDs. Among the continents, America and Asia showed a predominance in applications with the same amount of work. Comparing the MDs application areas, the analysis indicated that works are prevalent in food and beverage science in the American continent, while in Asia, health science prevails. MDs were more used to develop functional/nutraceutical products and the formulation of drugs for several diseases. However, we briefly describe some promising research fields in that MDs can still be employed. Full article

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and—in contrast to most types of Ehlers–Danlos syndrome—significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis. Full article