Browse publications by year: 2023

  1. Khairulmunir M, Gani M, Karuppannan KV, Mohd-Ridwan AR, Md-Zain BM
    Biodivers Data J, 2023;11:e104757.
    PMID: 37711366 DOI: 10.3897/BDJ.11.e104757
    The Malayan tiger (Pantheratigrisjacksoni) is a critically endangered species native to the Malaysian Peninsula. To imitate wild conditions where tigers do not hunt every day, numerous wildlife sanctuaries do not feed their tigers daily. However, the effects of fasting on the gut microbiota of captive Malayan tigers remains unknown. This study aimed to characterise the gut microbiota of captive Malayan tigers by comparing their microbial communities during fasting versus normal feeding conditions. This study was conducted at the Melaka Zoo, Malaysian Peninsula and involved Malayan tigers fasted every Monday. In total, ten faecal samples of Malayan tiger, two of Bengal tiger (outgroup) and four of lion (outgroup) were collected and analysed for metabarcoding targeting the 16S rRNA V3-V4 region. In total, we determined 14 phyla, 87 families, 167 genera and 53 species of gut microbiome across Malayan tiger samples. The potentially harmful bacterial genera found in this study included Fusobacterium, Bacteroides, Clostridium sensu stricto 1, Solobacterium, Echerichiashigella, Ignatzschineria and Negativibacillus. The microbiome in the fasting phase had a higher composition and was more diverse than in the feeding phase. The present findings indicate a balanced ratio in the dominant phyla, reflecting a resetting of the imbalanced gut microbiota due to fasting. These findings can help authorities in how to best maintain and improve the husbandry and health of Malayan tigers in captivity and be used for monitoring in ex-situ veterinary care unit.
  2. Mohd Yasin SB, Terry JS, Taylor AC
    RSC Adv, 2023 Sep 08;13(39):27461-27475.
    PMID: 37711376 DOI: 10.1039/d3ra04151d
    Thermoplastic olefin (TPO) is the principal material for automotive instrument panels and is prone to fracture especially under heavy airbag deployment, which can prevent the airbag deploying properly. Thus, polyolefin elastomer (POE) was introduced to improve impact properties and fracture resistance. Fundamental methods to characterise TPO with the addition of POE are proposed. The influence of POE content on the mechanical properties was examined. With increasing POE content, the storage modulus and glass transition temperature values decreased, and the damping increased due to the POE increasing the polymer chain mobility. The tensile modulus, ultimate tensile strength and yield stress decreased with increasing POE content, while the ductility of the blends significantly increased. Furthermore, the POE reduced hardness and increased energy absorption during impact. In the fracture analysis, the addition of POE content increased the fracture resistance by increasing the crack energy and decreasing the resistance to crack initiation. Fractographic analysis showed how stretched microfibrils in the blends increase the fracture resistance. These results gave a significant indication of the utility of the elastomer in improving some mechanical properties and impact toughness of the interior automotive material to resist an undesired failure or over-fracture in airbag deployment.
  3. Cowie S, Choy SH, Shah DM, Gomez MP, Yoong BK, Koong JK
    Transpl Int, 2023;36:11233.
    PMID: 37711402 DOI: 10.3389/ti.2023.11233
    The need for organ donation is constantly increasing. Some countries have made improvements, while others, such as countries in Southeast Asia (SEA), have some of the lowest rates of deceased donors (pmp). This review aims to compare 14 countries with regards to many variables related to healthcare systems. Countries leading in deceased organ donation spend more on health and education, which is associated with increased potential for deceased organ donation. Out-of-pocket expenditure, is also associated with a decrease in deceased organ donation. Countries in SEA are lacking in healthcare resources such as workforce and materials, which are both necessary for a successful transplant program. Most countries in SEA have an excellent foundation for successful organ donation systems, including proper legislation, government support, and brain death laws along with an overall acceptance of brain death diagnosis. Priorities should include improving coordination, donor identification, and healthcare worker education. Countries in SEA have a lot of potential to increase deceased organ donation, especially by investing in healthcare and education. There is no one size fits all for organ donation programs and countries in SEA should focus on their strengths and take cultural differences into consideration when planning interventions.
    MeSH terms: Asia, Southeastern; Brain Death*; Delivery of Health Care; Humans; Tissue and Organ Procurement*; Tissue Donors
  4. Xie S, Li S, Shaharudin S
    J Sports Sci Med, 2023 Sep;22(3):541-548.
    PMID: 37711701 DOI: 10.52082/jssm.2023.541
    The combined exercise with citrulline (CIT) supplementation is a potential adjuvant treatment approach to address the declining body composition and lower limb function of overweight older adults. However, research on this approach is limited. Thus, this study performed a meta-analysis review to explore the effects of combined exercise with CIT supplementation on body composition and lower limb function among overweight older adults. The search strategy and manuscript development of this study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Eligible studies were first searched through four databases (Web of Science, Scopus, PubMed, and EBSCO) from January 2003 until April 2023, followed by screening. The main inclusion criteria for the article selection are as follows: 1) Randomized Controlled Trial studies; 2) Participants aged over 55; 3) Studies involved exercise with CIT supplementation for the experimental group and exercise with Placebo (PLA) supplementation for the control group; 4) Body composition and lower limb function were measured at pre- and post-intervention. Subsequently, the Cochrane risk of bias assessment tool was utilized to evaluate the selected studies' quality. The Standardized Mean Difference (SMD) was chosen as the suitable effect scale index, and the mean differences of the data from the selected articles were analyzed using Revman 5.4 software with a 95% Confidence Interval (CI). A total of seven studies fulfilled the inclusion criteria and were selected for the meta-analysis. The included studies involved 105 males and 198 females, where 157 belonged to the PLA group and 146 from the CIT group. Significant improvements were observed among overweight older adults with CIT supplementation in 6-Minute Walking Test (6MWT) (P = 0.04, I2 = 4%), SMD (95% CI) = -0.28 (-0.54, -0.01), and Lower Limb Strength (LLS) (P < 0.01, I2 = 30%), SMD (95% CI) = -0.38 (-0.65, -0.12) compared to those with PLA supplementation. Combined exercise with CIT supplementation could be an effective non-pharmaceutical intervention to improve the physical function of overweight older adults by increasing their muscle strength.
    MeSH terms: Aged; Body Composition; Citrulline*; Female; Humans; Male; Polyesters; Dietary Supplements; Lower Extremity
  5. Diaz AB, Chow J, Hoo FK, Koh KW, Lee GCK, Teo WS, et al.
    Drugs Context, 2023;12.
    PMID: 37711730 DOI: 10.7573/dic.2023-3-3
    Edoxaban, a once-daily, direct-acting oral anticoagulant, is approved to prevent stroke or systemic embolism in non-valvular atrial fibrillation (NVAF) and treat venous thromboembolism. The clinical benefit of edoxaban for stroke prevention in Asian patients with NVAF has been demonstrated in clinical and real-world studies. We share early clinical experiences with once-daily edoxaban and discuss its evidence-based use in patients with NVAF in Southeast Asia through several cases of patients at high risk, including frail patients, elderly patients with multiple comorbidities and patients with increased bleeding risk. These cases demonstrate the effectiveness and safety of once-daily edoxaban in patients with NVAF in Southeast Asia.
  6. Koo JC, Ke Q, Hum YC, Goh CH, Lai KW, Yap WS, et al.
    Quant Imaging Med Surg, 2023 Sep 01;13(9):5902-5920.
    PMID: 37711826 DOI: 10.21037/qims-23-46
    BACKGROUND: Renal cancer is one of the leading causes of cancer-related deaths worldwide, and early detection of renal cancer can significantly improve the patients' survival rate. However, the manual analysis of renal tissue in the current clinical practices is labor-intensive, prone to inter-pathologist variations and easy to miss the important cancer markers, especially in the early stage.

    METHODS: In this work, we developed deep convolutional neural network (CNN) based heterogeneous ensemble models for automated analysis of renal histopathological images without detailed annotations. The proposed method would first segment the histopathological tissue into patches with different magnification factors, then classify the generated patches into normal and tumor tissues using the pre-trained CNNs and lastly perform the deep ensemble learning to determine the final classification. The heterogeneous ensemble models consisted of CNN models from five deep learning architectures, namely VGG, ResNet, DenseNet, MobileNet, and EfficientNet. These CNN models were fine-tuned and used as base learners, they exhibited different performances and had great diversity in histopathological image analysis. The CNN models with superior classification accuracy (Acc) were then selected to undergo ensemble learning for the final classification. The performance of the investigated ensemble approaches was evaluated against the state-of-the-art literature.

    RESULTS: The performance evaluation demonstrated the superiority of the proposed best performing ensembled model: five-CNN based weighted averaging model, with an Acc (99%), specificity (Sp) (98%), F1-score (F1) (99%) and area under the receiver operating characteristic (ROC) curve (98%) but slightly inferior recall (Re) (99%) compared to the literature.

    CONCLUSIONS: The outstanding robustness of the developed ensemble model with a superiorly high-performance scores in the evaluated metrics suggested its reliability as a diagnosis system for assisting the pathologists in analyzing the renal histopathological tissues. It is expected that the proposed ensemble deep CNN models can greatly improve the early detection of renal cancer by making the diagnosis process more efficient, and less misdetection and misdiagnosis; subsequently, leading to higher patients' survival rate.

  7. Salari N, Hasheminezhad R, Heidarisharaf P, Khaleghi AA, Azizi AH, Shohaimi S, et al.
    PMID: 37711873 DOI: 10.1016/j.eurox.2023.100237
    BACKGROUND: Gallstone disease is the second most common non-gynecological disease that may require surgical intervention during pregnancy. This study investigates the global prevalence of gallstones in pregnancy through a systematic review and meta-analysis.

    METHODS: A systematic review and meta-analysis of studies that reported the global prevalence of gallstones in pregnancy was conducted. PubMed, Scopus, Web of Science, Embase, ScienceDirect, and Google Scholar were searched for studies published up to September 2022.

    RESULTS: In a review of 31 studies with a sample size of 190,714 people, the I2 heterogeneity test showed high heterogeneity (I2 = 98.8%). Therefore, the random effects method was used to analyze the results. The prevalence of gallstones was reported as 3.6% (95% CI: 1.9-6.7%). The highest prevalence of gallstones by continent was reported in America, at 6.8% (95% CI: 4.2-10.8%). The Egger test showed no evidence of publication bias (p = 0.609).

    CONCLUSION: Based on the results of this study, health policymakers should emphasize to the target community and the medical staff dealing with pregnant women the importance of screening for gallstones during pregnancy.

  8. Esmat SM, Sulong AF, Awang MS, Oon ZS, Mohd Yusof N
    Cureus, 2023 Aug;15(8):e43448.
    PMID: 37711923 DOI: 10.7759/cureus.43448
    Growth plate injuries over the distal femur typically occur due to high-energy trauma. It is commonly associated with serious complications such as growth disturbance. Its occurrence in children undergoing limb-lengthening procedures is uncommon. We report a case of distal femur growth plate injury in a 13-year-old boy undergoing a limb-lengthening procedure for femoral hypoplasia. Conservative treatment yielded a good functional outcome in this patient.
  9. Abdi Beshir S, Ahmed Elnour A, Soorya A, Parveen Mohamed A, Sir Loon Goh S, Hussain N, et al.
    Saudi Pharm J, 2023 Oct;31(10):101757.
    PMID: 37712012 DOI: 10.1016/j.jsps.2023.101757
    BACKGROUND: Recently, many drugs have been approved for halting overweight and obesity-few types of research shifted to using Anti-obesity medications (AOM) solely for well-being and shape-keeping.

    OBJECTIVE: This narrative review's objective was to explore the use of AOM in relation to their medical indications, efficacy, and cardiovascular safety.

    METHODS AND MATERIALS: We have conducted a narrative review of the literature on approved/non-approved AOM used for obesity and overweight. We have shed light on the emerging trials of therapies and evolving remedies.

    RESULTS: Recently, there has been an enormous change in the use of AOM with high consumption that deserves extensive surveillance for the long-term consequences and impact on social, mental, and physical health. Nearly six AOMs and combined therapy are approved by the Food and Drug Administration. The recent guidelines for obesity management have shifted the focus from weight loss to goals that the patient considers essential and toward targeting the root cause of obesity.

    CONCLUSION: The use of AOM increased enormously despite its sometimes-dubious safety and ineffectiveness. The public and medical professionals should be vigilant to the real-world benefits of anti-obesity drugs and their achieved effectiveness with an improved safety profile.

  10. Abdul Rahim FA, Md Yatim MF, Abdul Mutalip MH, Mahmud MAF
    Malar J, 2023 Sep 12;22(1):267.
    PMID: 37700307 DOI: 10.1186/s12936-023-04704-1
    BACKGROUND: Malaria remains a public health problem in Malaysia despite a decline in the number of cases in recent years. Public knowledge of malaria is essential to achieving and maintaining malaria elimination. Therefore, this survey assessed the prevalence of people who had ever heard of malaria, had correct knowledge of malaria transmission, symptoms, risk activities, and prevention measures in the Malaysian population, and identified the associated factors involved.

    METHODS: The data were obtained from the National Health and Morbidity Survey (NHMS) which was conducted from September to October 2020. A cross-sectional survey with five structured questionnaires using the method of computer-assisted telephone interviews (CATI) was used to collect data. The socio-demographic characteristics such as age, gender, ethnicity, nationality, marital status, educational level, and occupation were recorded. Data were analysed using STATA SE Version 16. Associations between variables were tested using chi-square and logistic regression, with the level of statistical significance set at p 

    MeSH terms: Cross-Sectional Studies; Humans; Malaysia/epidemiology; Asian Continental Ancestry Group*
  11. Low ZY, Wong KH, Wen Yip AJ, Choo WS
    Curr Res Microb Sci, 2023;5:100202.
    PMID: 37700857 DOI: 10.1016/j.crmicr.2023.100202
    Influenza virus infection, more commonly known as the 'cold flu', is an etiological agent that gives rise to recurrent annual flu and many pandemics. Dated back to the 1918- Spanish Flu, the influenza infection has caused the loss of many human lives and significantly impacted the economy and daily lives. Influenza virus can be classified into four different genera: influenza A-D, with the former two, influenza A and B, relevant to humans. The capacity of antigenic drift and shift in Influenza A has given rise to many novel variants, rendering vaccines and antiviral therapies useless. In light of the emergence of a novel betacoronavirus, the SARS-CoV-2, unravelling the underpinning mechanisms that support the recurrent influenza epidemics and pandemics is essential. Given the symptom similarities between influenza and covid infection, it is crucial to reiterate what we know about the influenza infection. This review aims to describe the origin and evolution of influenza infection. Apart from that, the risk factors entail the implication of co-infections, especially regarding the COVID-19 pandemic is further discussed. In addition, antiviral strategies, including the potential of drug repositioning, are discussed in this context. The diagnostic approach is also critically discussed in an effort to understand better and prepare for upcoming variants and potential influenza pandemics in the future. Lastly, this review encapsulates the challenges in curbing the influenza spread and provides insights for future directions in influenza management.
  12. Gauhar V, Castellani D, Chew BH, Smith D, Chai CA, Fong KY, et al.
    Ther Adv Urol, 2023;15:17562872231198629.
    PMID: 37701535 DOI: 10.1177/17562872231198629
    BACKGROUND: Assessment of residual fragments (RFs) is a key step after treatment of kidney stones.

    OBJECTIVE: To evaluate differences in RFs estimation based on unenhanced computerized tomography (CT) versus X-rays/ultrasound after retrograde intrarenal surgery (RIRS) for kidney stones.

    DESIGN: A retrospective analysis of data from 20 centers of adult patients who had RIRS was done (January 2018-August 2021).

    METHODS: Exclusion criteria: ureteric stones, anomalous kidneys, bilateral renal stones. Patients were divided into two groups (group 1: CT; group 2: plain X-rays or combination of X-rays/ultrasound within 3 months after RIRS). Clinically significant RFs (CSRFs) were considered RFs ⩾ 4 mm. One-to-one propensity score matching for age, gender, and stone characteristics was performed. Multivariable logistic regression analysis was performed to evaluate independent predictors of CSRFs.

    RESULTS: A total of 5395 patients were included (1748 in group 1; 3647 in group 2). After matching, 608 patients from each group with comparable baseline and stone characteristics were included. CSRFs were diagnosed in 1132 patients in the overall cohort (21.0%). Post-operative CT reported a significantly higher number of patients with RFs ⩾ 4 mm, before (35.7% versus 13.9%, p 

  13. Bardini G, Orrù C, Ideo F, Nagendrababu V, Dummer P, Cotti E
    Aust Endod J, 2023 Sep 13.
    PMID: 37702252 DOI: 10.1111/aej.12794
    This review investigated whether any therapeutic options influenced the outcome of treatment for teeth with external cervical resorption. Out of 870 articles identified by an electronic search, 60 clinical case reports and six case series were included. No randomised clinical trials were found. Risk of bias was assessed using Joanna Briggs Institute's tools. External surgical intervention was the preferred method of accessing the lesions. Removal of resorptive tissue was prevalently achieved mechanically. Bioactive endodontic cements were the preferred materials for restoring teeth. The outcome measures were based on clinical and radiographic parameters. Of the cases included in the review, no specific treatment approach had a superior outcome in relation to Heithersay's classification. Furthermore, due to the absence of randomised clinical trials, and to the low level of evidence associated with case reports/case series, it was not possible to define the optimum clinical treatment for external cervical resorption.
  14. Kang CC, Lee TY, Lim WF, Yeo WWY
    Clin Transl Sci, 2023 Nov;16(11):2078-2094.
    PMID: 37702288 DOI: 10.1111/cts.13640
    Moving away from traditional "one-size-fits-all" treatment to precision-based medicine has tremendously improved disease prognosis, accuracy of diagnosis, disease progression prediction, and targeted-treatment. The current cutting-edge of 5G network technology is enabling a growing trend in precision medicine to extend its utility and value to the smart healthcare system. The 5G network technology will bring together big data, artificial intelligence, and machine learning to provide essential levels of connectivity to enable a new health ecosystem toward precision medicine. In the 5G-enabled health ecosystem, its applications involve predictive and preventative measurements which enable advances in patient personalization. This review aims to discuss the opportunities, challenges, and prospects posed to 5G network technology in moving forward to deliver personalized treatments and patient-centric care via a precision medicine approach.
    MeSH terms: Machine Learning; Artificial Intelligence*; Humans; Technology; Precision Medicine*
  15. Prevete E, Catalani V, Singh D, Kuypers KPC, Theunissen EL, Townshend HD, et al.
    J Psychoactive Drugs, 2023 Sep 13.
    PMID: 37702482 DOI: 10.1080/02791072.2023.2242361
    In recent years, the online sale of kratom (Mitragyna speciosa), a Southeast Asian plant with both medicinal and psychoactive properties, has raised health concerns mainly due to the uncontrolled diffusion of adulterated kratom-related products. This exploratory study provides, for the first time, a snapshot of the availability of kratom products on the darknet which has been further validated by data searches on the surface web. A total of 231 listings of kratom across 23 darknet marketplaces were identified between March 2020 and October 2021. Among these, 40 were found actively sold across five markets by thirteen vendors. Listed items were mainly advertised as "safe" substitutes for medicinal products for the self-management of pain and other health conditions and offered in various forms (e.g., dry leaf powder, pills, capsules). Purchases were made using cryptocurrencies, with some vendors offering Pretty Good Privacy, and were shipped from Europe, Australia, the United States, and the United Kingdom. Goods sold by the same sellers also included illicit drugs and fraud-related products. Our study discovered a previously unknown diffusion of kratom products on the darknet mainly for self-treating a variety of medical conditions, suggesting the need for further research and immediate interventions to safeguard the well-being and health of kratom consumers.
  16. Zheng K, Liang Y, Paez-Espino D, Zou X, Gao C, Shao H, et al.
    mSystems, 2023 Sep 13;8(5):e0019723.
    PMID: 37702511 DOI: 10.1128/msystems.00197-23
    The N4-like viruses, which were recently assigned to the novel viral family Schitoviridae in 2021, belong to a podoviral-like viral lineage and possess conserved genomic characteristics and a unique replication mechanism. Despite their significance, our understanding of N4-like viruses is primarily based on viral isolates. To address this knowledge gap, this study has established a comprehensive N4-like viral data sets comprising 342 high-quality N4-like viruses/proviruses (144 viral isolates, 158 uncultured viruses, and 40 integrated N4-like proviruses). These viruses were classified into 97 subfamilies (89 of which are newly identified), 148 genera (100 of which are newly identified), and 253 species (177 of which are newly identified). The study reveals that N4-like viruses inhibit the polar region, oligotrophic open oceans, and the human gut, where they infect various bacterial lineages, such as Alpha/Beta/Gamma/Epsilon-proteobacteria in the Proteobacteria phylum. Although N4-like viral endogenization appears to be prevalent in Proteobacteria, it has also been observed in Firmicutes. Additionally, the phylogenetic analysis has identified evolutionary divergence within the hallmark genes of N4-like viruses, indicating a complex origin of the different conserved parts of viral genomes. Moreover, 1,101 putative auxiliary metabolic genes (AMGs) were identified in the N4-like viral pan-proteome, which mainly participate in nucleotide and cofactor/vitamin metabolisms. Of these AMGs, 27 were found to be associated with virulence, suggesting their potential involvement in the spread of bacterial pathogenicity. IMPORTANCE The findings of this study are significant, as N4-like viruses represent a unique viral lineage with a distinct replication mechanism and a conserved core genome. This work has resulted in a comprehensive global map of the entire N4-like viral lineage, including information on their distribution in different biomes, evolutionary divergence, genomic diversity, and the potential for viral-mediated host metabolic reprogramming. As such, this work significantly contributes to our understanding of the ecological function and viral-host interactions of bacteriophages.
  17. Teh J, Mazlan M, Danaee M, Waran RJ, Waran V
    PLoS One, 2023;18(9):e0284484.
    PMID: 37703233 DOI: 10.1371/journal.pone.0284484
    OBJECTIVE: Road traffic accident (RTA) is the major cause of traumatic brain injury (TBI) in developing countries and affects mostly young adult population. This research aimed to describe the factors predicting functional outcome after TBI caused by RTA in a Malaysian setting.

    METHODS: This was a retrospective cross-sectional study conducted on specialist medical reports written from 2009 to 2019, involving patients who survived after TBI from RTA. The functional outcome was assessed using the Glasgow Outcome Scale-Extended (GOSE). Factors associated with good outcome were analysed via logistic regression analysis. Multivariate logistic regression analysis was used to derive the best fitting Prediction Model and split-sample cross-validation was performed to develop a prediction model.

    RESULTS: A total of 1939 reports were evaluated. The mean age of the study participants was 32.4 ± 13.7 years. Most patients were male, less than 40, and with average post RTA of two years. Good outcome (GOSE score 7 & 8) was reported in 30.3% of the patients. Factors significantly affecting functional outcome include age, gender, ethnicity, marital status, education level, severity of brain injury, neurosurgical intervention, ICU admission, presence of inpatient complications, cognitive impairment, post-traumatic headache, post traumatic seizures, presence of significant behavioural issue; and residence post discharge (p<0.05). After adjusting for confounding factors, prediction model identified age less than 40, mild TBI, absence of post traumatic seizure, absence of behaviour issue, absence of cognitive impairment and independent living post TBI as significant predictors of good functional outcome post trauma. Discrimination of the model was acceptable (C-statistic, 0.67; p<0.001, 95% CI: 0.62-0.73).

    CONCLUSION: Good functional outcome following TBI due to RTA in this study population is comparable to other low to middle income countries but lower than high income countries. Factors influencing outcome such as seizure, cognitive and behavioural issues, and independent living post injury should be addressed early to achieve favourable long-term outcomes.

    MeSH terms: Accidents, Traffic; Adolescent; Adult; Aftercare; Cross-Sectional Studies; Developing Countries*; Female; Humans; Inpatients; Male; Middle Aged; Patient Discharge; Retrospective Studies; Young Adult
  18. Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, et al.
    Eur J Hum Genet, 2023 Dec;31(12):1421-1429.
    PMID: 37704779 DOI: 10.1038/s41431-023-01447-0
    Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported. Six variants were novel. We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity. Carrier female relatives of affected males were unaffected or had only mild symptoms. The phenotype of affected females with de novo variants overlapped with the males but included linear skin hyperpigmentation and a higher frequency of dental, retinal and cortical brain anomalies. Complications observed in our series included keloid scarring, digital fibromas, absent vaginal orifice, neuropathy, umbilical hernias, and talipes. Our analysis highlighted sex-specific differences in PHF6 variant types and locations. Affected males often have missense variants or small in-frame deletions while affected females tend to have truncating variants or large deletions/duplications. Missense variants were found in a minority of affected females and clustered in the highly constrained PHD2 domain of PHF6. We propose recommendations for the evaluation and management of BFLS patients. These results further delineate and extend the genetic and phenotypic spectrum of BFLS.
    MeSH terms: Female; Humans; Male; Obesity/genetics
  19. Irnidayanti Y, Soegianto A, Brabo AH, Abdilla FM, Putranto TWC, Payus CM
    Bull Environ Contam Toxicol, 2023 Sep 13;111(3):37.
    PMID: 37704797 DOI: 10.1007/s00128-023-03786-6
    This study examined the characteristics of microplastics (MPs) in the gills and gastrointestinal tract (GIT) of mackerel (Rastrelliger kanagurta) captured in Jakarta Bay, Indonesia. All 120 fish contained MPs, with fragment > fiber > film being the most prevalent types, in that order. The total abundances of fragments, fibers, and films in the gills were as follows: 4.8 ± 1.6, 1.0 ± 0.7, and 0.3 ± 0.3, respectively. The total abundances of fragments, fibers, and films in the GIT were 5.9 ± 2.3, 1.3 ± 0.8, and 0.4 ± 0.4, respectively. Statistical analysis showed that the abundance of fragments, fibers and films in both the gills and GIT of mackerel did not differ significantly between sampling locations. In the gills and GIT, MPs with sizes less than 0.1 mm and MPs that were black in color were most prevalent. Fourier transform infrared (FTIR) spectroscopy tests on MPs from the tissues of mackerel showed that there were 8 different types of MP polymers, namely, latex, nylon, polymethyl methacrylate (PMMA), cellulose acetate (CA), polyurethane (PU), polycarbonate (PC), polystyrene (PS), and polytetrafluoroethylene (PTFE). Latex and polycarbonate were detected in fish samples from Jakarta Bay.
    MeSH terms: Animals; Gills; Indonesia; Latex; Perciformes*; Plastics; Gastrointestinal Tract; Bays
  20. Wang G, Wan Y, Ding CJ, Liu X, Jiang Y
    Environ Sci Pollut Res Int, 2023 Oct;30(47):103513-103533.
    PMID: 37704820 DOI: 10.1007/s11356-023-29490-w
    The construction of low-carbon cities is an essential component of sustainable urban development. However, there is a lack of a comprehensive low-carbon city design and evaluation system that incorporates "carbon sink accounting-remote sensing monitoring-numerical modelling-design and application" in an all-around linkage, multi-scale coupling, and localized effects. This paper utilizes the Citespace tool to evaluate low-carbon city design applications by analyzing literature in the Web of Science (WOS) core collection database. The results reveal that low-carbon cities undergo four stages: "measurement-implementation-regulation - management." The research themes are divided into three core clustering evolutionary pathways: "extension of carbon sink functions," "spatialisation of carbon sink systems," and "full-cycle, full-dimensional decarbonisation." Applications include "Utility studies of multi-scale carbon sink assessments," "Correlation analysis of carbon sink influencing factors," "Predictive characterisation of multiple planning scenarios," and "Spatial planning applications of urban sink enhancement." Future low-carbon city construction should incorporate intelligent algorithm technology in real-time to provide a strong design basis for multi-scale urban spatial design with the features of "high-precision accounting, full-cycle assessment and low-energy concept."
    MeSH terms: Carbon*; China; Cities
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