Displaying publications 401 - 413 of 413 in total

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  1. Mohammed A, Abdul-Wahab MF, Hashim M, Omar AH, Md Reba MN, Muhamad Said MF, et al.
    Pol J Microbiol, 2018 11 20;67(3):283-290.
    PMID: 30451444 DOI: 10.21307/pjm-2018-033
    Lower temperature biohydrogen production has always been attractive, due to the lower energy requirements. However, the slow metabolic rate of psychrotolerant biohydrogen-producing bacteria is a common problem that affects their biohydrogen yield. This study reports on the improved substrate synthesis and biohydrogen productivity by the psychrotolerant Klebsiella sp. strain ABZ11, isolated from Antarctic seawater sample. The isolate was screened for biohydrogen production at 30°C, under facultative anaerobic condition. The isolate is able to ferment glucose, fructose and sucrose with biohydrogen production rate and yield of 0.8 mol/l/h and 3.8 mol/g, respectively at 10 g/l glucose concentration. It also showed 74% carbohydrate uptake and 95% oxygen uptake ability, and a wide growth temperature range with optimum at 37°C. Klebsiella sp. ABZ11 has a short biohydrogen production lag phase, fast substrate uptake and is able to tolerate the presence of oxygen in the culture medium. Thus, the isolate has a potential to be used for lower temperature biohydrogen production process.
  2. Kamal I, Razak HRA, Abdul Karim MK, Mashohor S, Liew JYC, Low YJ, et al.
    Polymers (Basel), 2022 Jan 28;14(3).
    PMID: 35160523 DOI: 10.3390/polym14030535
    Medical imaging phantoms are considered critical in mimicking the properties of human tissue for calibration, training, surgical planning, and simulation purposes. Hence, the stability and accuracy of the imaging phantom play a significant role in diagnostic imaging. This study aimed to evaluate the influence of hydrogen silicone (HS) and water (H2O) on the compression strength, radiation attenuation properties, and computed tomography (CT) number of the blended Polydimethylsiloxane (PDMS) samples, and to verify the best material to simulate kidney tissue. Four samples with different compositions were studied, including samples S1, S2, S3, and S4, which consisted of PDMS 100%, HS/PDMS 20:80, H2O/PDMS 20:80, and HS/H2O/PDMS 20:40:40, respectively. The stability of the samples was assessed using compression testing, and the attenuation properties of sample S2 were evaluated. The effective atomic number of S2 showed a similar pattern to the human kidney tissue at 1.50 × 10-1 to 1 MeV. With the use of a 120 kVp X-ray beam, the CT number quantified for S2, as well measured 40 HU, and had the highest contrast-to-noise ratio (CNR) value. Therefore, the S2 sample formulation exhibited the potential to mimic the human kidney, as it has a similar dynamic and is higher in terms of stability as a medical phantom.
  3. Syahida Kasim N, Mat Jaafar TNA, Mat Piah R, Mohd Arshaad W, Mohd Nor SA, Habib A, et al.
    PeerJ, 2020;8:e9679.
    PMID: 32844067 DOI: 10.7717/peerj.9679
    The population genetic diversity and demographic history of the longtail tuna Thunnus tonggol in Malaysian waters was investigated using mitochondrial DNA D-loop and NADH dehydrogenase subunit 5 (ND5). A total of 203 (D-loop) and 208 (ND5) individuals of T. tonggol were sampled from 11 localities around the Malaysian coastal waters. Low genetic differentiation between populations was found, possibly due to the past demographic history, dispersal potential during egg and larval stages, seasonal migration in adults, and lack of geographical barriers. The gene trees, constructed based on the maximum likelihood method, revealed a single panmictic population with unsupported internal clades, indicating an absence of structure among the populations studied. Analysis on population pairwise comparison ФST suggested the absence of limited gene flow among study sites. Taken all together, high haplotype diversity (D-loop = 0.989-1.000; ND5 = 0.848-0.965), coupled with a low level of nucleotide diversity (D-loop = 0.019-0.025; ND5 = 0.0017-0.003), "star-like" haplotype network, and unimodal mismatch distribution, suggests a recent population expansion for populations of T. tonggol in Malaysia. Furthermore, neutrality and goodness of fit tests supported the signature of a relatively recent population expansion during the Pleistocene epoch. To provide additional insight into the phylogeographic pattern of the species within the Indo-Pacific Ocean, we included haplotypes from GenBank and a few samples from Taiwan. Preliminary analyses suggest a more complex genetic demarcation of the species than an explicit Indian Ocean versus Pacific Ocean delineation.
  4. Mohamad S, Rahmah S, Zainuddin RA, A Thallib Y, Razali RS, Jalilah M, et al.
    Heliyon, 2024 Feb 29;10(4):e25559.
    PMID: 38404778 DOI: 10.1016/j.heliyon.2024.e25559
    Current water warming and freshwater acidification undoubtedly affect the life of aquatic animals especially ammonotelic teleost by altering their physiological responses. The effect of temperature (28 °C vs 32 °C) and pH (7 vs. 5) on the metabolic compromising strategies of Hoven's carp (Leptobarbus hoevenii) was investigated in this study. Fishes were conditioned to (i) 28 °C + pH 7 (N28°C); (ii) 32 °C + pH 7 (N32°C); (iii) 28 °C + pH 5 (L28°C) and (iv) 32 °C + pH 5 (L32°C) for 20 days followed by osmorespiration assay. Results showed that feeding performance of Hoven's carp was significantly depressed when exposed to low pH conditions (L28°C and L32°C). However, by exposed Hoven's carp to L32°C induced high metabolic oxygen intake and ammonia excretion to about 2x-folds higher compared to the control group. As for energy mobilization, Hoven's carp mobilized liver and muscle protein under L28°C condition. Whereas under high temperature in both pH, Hoven's carp had the tendency to reserve energy in both of liver and muscle. The findings of this study revealed that Hoven's carp is sensitive to lower water pH and high temperature, thereby they remodeled their physiological needs to cope with the environmental changes condition.
  5. Razali RS, Rahmah S, Shirly-Lim YL, Ghaffar MA, Mazelan S, Jalilah M, et al.
    Sci Rep, 2024 Feb 05;14(1):2903.
    PMID: 38316820 DOI: 10.1038/s41598-024-52864-0
    This study was conducted to investigate the energy mobilisation preference and ionoregulation pattern of female tilapia, Oreochromis sp. living in different environments. Three different treatments of tilapia as physiology compromising model were compared; tilapia cultured in recirculating aquaculture system (RAS as Treatment I-RAS), tilapia cultured in open water cage (Treatment II-Cage) and tilapia transferred from cage and cultured in RAS (Treatment III-Compensation). Results revealed that tilapia from Treatment I and III mobilised lipid to support gonadogenesis, whilst Treatment II tilapia mobilised glycogen as primary energy for daily exercise activity and reserved protein for growth. The gills and kidney Na+/K+ ATPase (NKA) activities remained relatively stable to maintain homeostasis with a stable Na+ and K+ levels. As a remark, this study revealed that tilapia strategized their energy mobilisation preference in accessing glycogen as an easy energy to support exercise metabolism and protein somatogenesis in cage culture condition, while tilapia cultured in RAS mobilised lipid for gonadagenesis purposes.
  6. Mohd Azman MAH, Ahmad Sobri S, Norizan MN, Ahmad MN, Wan Ismail WOAS, Hambali KA, et al.
    Polymers (Basel), 2021 Jun 22;13(13).
    PMID: 34206568 DOI: 10.3390/polym13132043
    Particleboard is not entirely a wood replacement but a particular material with its properties, making it more effective at different times than heavy or solid wood. The world's biggest concern is environmental problems with formaldehyde as a particulate board binder that can lead to human carcinogenic agents. A cradle-to-gate life cycle assessment (LCA) of particleboard production was performed using openLCA software. The impact assessment was carried out according to the software's features. This preliminary investigation aims to analyze the chemical composition of particleboard and identify its environmental impact. The Fourier-transform infrared spectroscopy (FTIR) system was used to track the functional group of aliphatic hydrocarbons, inorganic phosphates, and main aliphatic alcohols found in particleboards made in Malaysia. Based on the FTIR results, aliphatic groups were found in numerous aggravates that the spectroscopic infrared was likely to experience. The most important vibrational modes were C-H, at approximately 3000 cm-1, and -CH deformations around 1460 cm-1 and 1380 cm-1. Eight effect groups demonstrated that 100% of the input and all analyses produced the same relative outcome. The life cycle of a product is determined by pollution of the air, water, and soil. Thus, particleboard has a minimal impact on the environment, except for global warming.
  7. Tan PJ, Khoo EM, Chinna K, Saedon NI, Zakaria MI, Ahmad Zahedi AZ, et al.
    PLoS One, 2018;13(8):e0199219.
    PMID: 30074996 DOI: 10.1371/journal.pone.0199219
    OBJECTIVE: To determine the effectiveness of an individually-tailored multifactorial intervention in reducing falls among at risk older adult fallers in a multi-ethnic, middle-income nation in South-East Asia.

    DESIGN: Pragmatic, randomized-controlled trial.

    SETTING: Emergency room, medical outpatient and primary care clinic in a teaching hospital in Kuala Lumpur, Malaysia.

    PARTICIPANTS: Individuals aged 65 years and above with two or more falls or one injurious fall in the past 12 months.

    INTERVENTION: Individually-tailored interventions, included a modified Otago exercise programme, HOMEFAST home hazards modification, visual intervention, cardiovascular intervention, medication review and falls education, was compared against a control group involving conventional treatment.

    PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome was any fall recurrence at 12-month follow-up. Secondary outcomes were rate of fall and time to first fall.

    RESULTS: Two hundred and sixty-eight participants (mean age 75.3 ±7.2 SD years, 67% women) were randomized to multifactorial intervention (n = 134) or convention treatment (n = 134). All participants in the intervention group received medication review and falls education, 92 (68%) were prescribed Otago exercises, 86 (64%) visual intervention, 64 (47%) home hazards modification and 51 (38%) cardiovascular intervention. Fall recurrence did not differ between intervention and control groups at 12-months [Risk Ratio, RR = 1.037 (95% CI 0.613-1.753)]. Rate of fall [RR = 1.155 (95% CI 0.846-1.576], time to first fall [Hazard Ratio, HR = 0.948 (95% CI 0.782-1.522)] and mortality rate [RR = 0.896 (95% CI 0.335-2.400)] did not differ between groups.

    CONCLUSION: Individually-tailored multifactorial intervention was ineffective as a strategy to reduce falls. Future research efforts are now required to develop culturally-appropriate and affordable methods of addressing this increasingly prominent public health issue in middle-income nations.

    TRIAL REGISTRATION: ISRCTN Registry no. ISRCTN11674947.

    Study site: emergency department, medical outpatients and primary care clinic at a teaching hospital in Kuala Lumpur, Malaysia
  8. Hu QL, Zhuo JC, Fang GQ, Lu JB, Ye YX, Li DT, et al.
    Sci Adv, 2024 Apr 26;10(17):eadk3852.
    PMID: 38657063 DOI: 10.1126/sciadv.adk3852
    Many insect pests, including the brown planthopper (BPH), undergo windborne migration that is challenging to observe and track. It remains controversial about their migration patterns and largely unknown regarding the underlying genetic basis. By analyzing 360 whole genomes from around the globe, we clarify the genetic sources of worldwide BPHs and illuminate a landscape of BPH migration showing that East Asian populations perform closed-circuit journeys between Indochina and the Far East, while populations of Malay Archipelago and South Asia undergo one-way migration to Indochina. We further find round-trip migration accelerates population differentiation, with highly diverged regions enriching in a gene desert chromosome that is simultaneously the speciation hotspot between BPH and related species. This study not only shows the power of applying genomic approaches to demystify the migration in windborne migrants but also enhances our understanding of how seasonal movements affect speciation and evolution in insects.
  9. Young PJ, Al-Fares A, Aryal D, Arabi YM, Ashraf MS, Bagshaw SM, et al.
    Crit Care Resusc, 2023 Jun;25(2):106-112.
    PMID: 37876605 DOI: 10.1016/j.ccrj.2023.04.008
    BACKGROUND: The effect of conservative vs. liberal oxygen therapy on 90-day in-hospital mortality in adults with sepsis receiving unplanned invasive mechanical ventilation in the intensive care unit (ICU) is uncertain.

    OBJECTIVE: The objective of this study was to summarise the protocol and statistical analysis plan for the Mega-ROX Sepsis trial.

    DESIGN SETTING AND PARTICIPANTS: The Mega-ROX Sepsis trial is an international randomised clinical trial that will be conducted within an overarching 40,000-patient registry-embedded clinical trial comparing conservative and liberal ICU oxygen therapy regimens. We anticipate that between 10,000 and 13,000 patients with sepsis who are receiving unplanned invasive mechanical ventilation in the ICU will be enrolled in this trial.

    MAIN OUTCOME MEASURES: The primary outcome is in-hospital all-cause mortality up to 90 days from the date of randomisation. Secondary outcomes include duration of survival, duration of mechanical ventilation, ICU length of stay, hospital length of stay, and the proportion of patients discharged home.

    RESULTS AND CONCLUSIONS: Mega-ROX Sepsis will compare the effect of conservative vs. liberal oxygen therapy on 90-day in-hospital mortality in adults with sepsis who are receiving unplanned invasive mechanical ventilation in the ICU. The protocol and a prespecified approach to analyses are reported here to mitigate analysis bias.

  10. Mo Y, Ding Y, Cao Y, Hopkins J, Ashley EA, Waithira N, et al.
    Wellcome Open Res, 2023;8:179.
    PMID: 37854055 DOI: 10.12688/wellcomeopenres.19210.2
    Background: Antimicrobial resistance surveillance is essential for empiric antibiotic prescribing, infection prevention and control policies and to drive novel antibiotic discovery. However, most existing surveillance systems are isolate-based without supporting patient-based clinical data, and not widely implemented especially in low- and middle-income countries (LMICs). Methods: A Clinically-Oriented Antimicrobial Resistance Surveillance Network (ACORN) II is a large-scale multicentre protocol which builds on the WHO Global Antimicrobial Resistance and Use Surveillance System to estimate syndromic and pathogen outcomes along with associated health economic costs. ACORN-healthcare associated infection (ACORN-HAI) is an extension study which focuses on healthcare-associated bloodstream infections and ventilator-associated pneumonia. Our main aim is to implement an efficient clinically-oriented antimicrobial resistance surveillance system, which can be incorporated as part of routine workflow in hospitals in LMICs. These surveillance systems include hospitalised patients of any age with clinically compatible acute community-acquired or healthcare-associated bacterial infection syndromes, and who were prescribed parenteral antibiotics. Diagnostic stewardship activities will be implemented to optimise microbiology culture specimen collection practices. Basic patient characteristics, clinician diagnosis, empiric treatment, infection severity and risk factors for HAI are recorded on enrolment and during 28-day follow-up. An R Shiny application can be used offline and online for merging clinical and microbiology data, and generating collated reports to inform local antibiotic stewardship and infection control policies. Discussion: ACORN II is a comprehensive antimicrobial resistance surveillance activity which advocates pragmatic implementation and prioritises improving local diagnostic and antibiotic prescribing practices through patient-centred data collection. These data can be rapidly communicated to local physicians and infection prevention and control teams. Relative ease of data collection promotes sustainability and maximises participation and scalability. With ACORN-HAI as an example, ACORN II has the capacity to accommodate extensions to investigate further specific questions of interest.
  11. Acar Y, Tezel O, Salman N, Cevik E, Algaba-Montes M, Oviedo-García A, et al.
    Crit Ultrasound J, 2016 Sep;8(Suppl 1):12.
    PMID: 27604617 DOI: 10.1186/s13089-016-0046-8
    TABLE OF CONTENTS: A1 Point-of-care ultrasound examination of cervical spine in emergency departmentYahya Acar, Onur Tezel, Necati SalmanA2 A new technique in verifying the placement of a nasogastric tube: obtaining the longitudinal view of nasogastric tube in addition to transverse view with ultrasoundYahya Acar, Necati Salman, Onur Tezel, Erdem CevikA3 Pseudoaneurysm of the femoral artery after cannulation of a central venous line. Should we always use ultrasound in these procedures?Margarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-BordomásA4 Ultrasound-guided supraclavicular subclavian vein catheterization. A novel approach in emergency departmentMargarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-BordomásA5 Clinical ultrasound in a septic and jaundice patient in the emergency departmentMargarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-BordomásA6 Characterization of the eyes in preoperative cataract Saudi patients by using medical diagnostic ultrasoundMustafa Z. Mahmoud, Abdelmoneim SuliemanA7 High-frequency ultrasound in determining the causes of acute shoulder joint painMustafa Z. MahmoudA8 Teaching WINFOCUS Ultrasound Life Support Basic Level 1 for Providers in resource-limited countriesAbbas Ali, Alrayah Mustafa, Ihab Abdelrahman, Mustafa Bahar, Osama Ali, H. Lester Kirchner, Gregor ProsenA9 Changes of arterial stiffness and endothelial function during uncomplicated pregnancyAjda Anzic, Paul LeesonA10 Cardiovascular haemodynamic properties before, during and after pregnancyAjda Anzic, Paul LeesonA11 An old man with generalized weaknessMaryam Bahreini, Fatemeh RasooliA12 Ultrasonography for non-specific presentations of abdominal painMaryam Bahreini, Houman HosseinnejadA13 Introduction of a new imaging guideline for suspected renal colic in the emergency department: effect on CT Urogram utilisationGabriel Blecher, Robert Meek, Diana Egerton-WarburtonA14 Transabdominal ultrasound screening for pancreatic cancer in Croatian military veterans: a retrospective analysis from the first Croatian veteran's hospitalEdina Ćatić Ćuti, Stanko Belina, Tihomir Vančina, Idriz KovačevićA15 The challenge of AAA: unusual case of obstructive jaundiceEdina Ćatić Ćuti, Nadan RustemovićA16 Educational effectiveness of easy-made new simulator model for ultrasound-guided procedures in pediatric patients: vascular access and foreign body managementIkwan Chang, Jin Hee Lee, Young Ho Kwak, Do Kyun KimA17 Detection of uterine rupture by point-of-care ultrasound at emergency department: a case reportChi-Yung Cheng, Hsiu-Yung Pan, Chia-Te KungA18 Abdominal probe in the hands of interns as a relevant diagnostic tool in revealing the cause of heart failureEla Ćurčić, Ena Pritišanac, Ivo Planinc, Marijana Grgić Medić, Radovan RadonićA19 Needs assessment of the potential utility of point-of-care ultrasound within the Zanzibar health systemAbiola Fasina, Anthony J. Dean, Nova L. Panebianco, Patricia S. HenwoodA20 Ultrasonographic diagnosis of tracheal compressionOliviero Fochi, Moreno Favarato, Ezio BonanomiA21 The role of ultrasound in the detection of lung infiltrates in critically ill patients: a pilot studyMarijana Grgić Medić, Ivan Tomić, Radovan RadonićA22 The SAFER Lasso; a novel approach using point-of-care ultrasound to evaluate patients with abdominal complaints in the emergency departmentYoungrock Ha, Hongchuen TohA23 Awareness and use of clinician-performed ultrasound among clinical clerkship facultyElizabeth Harmon, Wilma Chan, Cameron Baston, Gail Morrison, Frances Shofer, Nova Panebianco, Anthony J. DeanA24 Clinical outcomes in the use of lung ultrasound for the diagnosis of pediatric pneumoniasAngela Hua, Sharon Kim, James TsungA25 Effectiveness of ultrasound in hypotensive patientsIsa Gunaydin, Zeynep Kekec, Mehmet Oguzhan AyA26 Moderate-to-severe left ventricular ejection fraction related to short-term mortality of patients with post-cardiac arrest syndrome after out-of-hospital cardiac arrestJinjoo Kim, Jinhyun Kim, Gyoosung Choi, Dowon ShimA27 Usefulness of abdominal ultrasound for acute pyelonephritis diagnosis after kidney transplantationJi-Han LeeA28 Lung ultrasound for assessing fluid tolerance in severe preeclampsiaJana Ambrozic, Katja Prokselj, Miha LucovnikA29 Optic nerve sheath ultrasound in severe preeclampsiaGabrijela Brzan Simenc, Jana Ambrozic, Miha LucovnikA30 Focused echocardiography monitoring in the postoperative period for non-cardiac patientsAsta Mačiulienė, Almantas Maleckas, Algimantas Kriščiukaitis, Vytautas Mačiulis, Andrius MacasA31 POCUS-guided paediatric upper limb fracture reduction: algorithm, tricks, and tipsSharad MohiteA32 Point-of-care lung ultrasound: a good diagnostic tool for pneumonia in a septic patientZoltan Narancsik, Hugon MožinaA33 A case of undergraduate POCUS (r)evolutionSara Nikolić, Jan Hansel, Rok Petrovčič, Una Mršić, Gregor ProsenA34 The Graz Summer School for ultrasound: from first contact to bedside application: three-and-a-half-day undergraduate ultrasound training: résumé after two years of continuous developmentSimon Orlob, Markus Lerchbaumer, Niklas Schönegger, Reinhard KaufmannA35 Usefulness of point-of-care ultrasound in the emergency room in a patient with acute abdominal painAlberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-BordomásA36 Use of bedside ultrasound in a critically ill patient. A case reportAlberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-BordomásA37 Diagnostic yield of clinical echocardiography for the emergency physicianAlberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-BordomásA38 Focused cardiac ultrasound in early diagnosis of type A aortic dissection with atypical presentationChun-I Pan, Hsiu-Yung Pan, Chien-Hung WuA39 Detection of imperforated hymen by point-of-care ultrasoundHsiu-yung Pan, Chia-Te KungA40 Developing a point-of-care ultrasound curriculum for pediatric nurse practitioners practicing in the pediatric emergency departmentSarah Pasquale, Stephanie J. Doniger, Sharon Yellin, Gerardo ChiricoloA41 Use of transthoracic echocardiography in emergency setting: patient with mitral valve abscessMaja Potisek, Borut Drnovšek, Boštjan LeskovarA42 A young man with syncopeFatemeh Rasooli, Maryam BahreiniA43 Work-related repetitive use injuries in ultrasound fellowsKristine Robinson, Clara Kraft, Benjamin Moser, Stephen Davis, Shelley Layman, Yusef Sayeed, Joseph MinardiA44 Lung ultrasonography in the evaluation of pneumonia in childrenIrmina Sefic Pasic, Amra Dzananovic, Anes Pasic, Sandra Vegar ZubovicA45 Central venous catheter placement with the ultrasound aid: two years' experience of the Interventional unit, Division of Intensive Care Medicine, KBC ZagrebAna Godan Hauptman, Marijana Grgic Medic, Ivan Tomic, Ana Vujaklija Brajkovic, Jaksa Babel, Marina Peklic, Radovan RadonicA46 Duplicitas casui: two patients admitted due to acute liver failureVedran Radonic, Ivan Tomic, Luka Bielen, Marijana Grgic MedicA47 A pilot survey on an understanding of Bedside Point-of-Care Ultrasound (POCUS) among medical doctors in internal medicine: exposure, perceptions, interest, and barriers to trainingPeh Wee MingA48 Unusual case of defecation syncopeNur hafiza Yezid, Fatahul Laham MohammedA49 A case report of massive pulmonary embolism; a multidisciplinary approachZainal Abidin Huda, Wan Nasarudin Wan Ismail, W.Yus Haniff W.Isa, Hashairi Fauzi, Praveena Seeva, Mohd Zulfakar Mazlan.
  12. Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
    Res Sq, 2024 Jun 10.
    PMID: 38903062 DOI: 10.21203/rs.3.rs-4438861/v1
    The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.
  13. Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
    medRxiv, 2024 May 21.
    PMID: 37503210 DOI: 10.1101/2023.06.06.23290887
    The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.
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