Displaying publications 1 - 20 of 22 in total

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  1. Sahni V, Gupta N, Anuradha S, Tatke M, Kar P
    Med J Malaysia, 2007 Mar;62(1):76-7.
    PMID: 17682580
    Many neurological diseases like myopathy, periodic paralysis, ophthalmoplegia, and myasthenia gravis are known associations of thyrotoxicosis. However the association of neuropathy with thyrotoxicosis is not frequently recognized. First described by Charcot in 1889, thyrotoxic neuropathy or 'Basedow's Paraplegia' is a rarely reported entity. We describe here a case of a young woman with subacute distal neuropathy as the presenting manifestation of thyrotoxicosis. The neuropathy improved on antithyroid treatment. A careful literature search leads us to believe that peripheral neuropathy in thyrotoxicosis is under recognised. Thyroid function tests can be helpful in the diagnosis of this treatable neuropathy and should be included in the routine work up.
  2. Ng AWR, Loh KK, Gupta N, Narayanan K
    Clin Nutr ESPEN, 2019 10;33:39-41.
    PMID: 31451273 DOI: 10.1016/j.clnesp.2019.07.014
    BACKGROUND & AIMS: Consumption of sugars in food and beverages has increased at an alarming rate. While excessive daily sugar intake has been well-associated as the onset of medical complications, additional sugars are still used in manufactured food products just to satisfy the consumers' needs. Hence, there is a need to develop sugar replacers that have low glycemic response without compromising the organoleptic characteristics of food products. This study aimed to determine if SUITENA™, a novel sweetener containing erythritol, xylitol, and Stevia, has low glycemic response upon consumption by human subjects.

    METHODS: Six human subjects were randomly chosen and were healthy at the point of experimentation. Capillary blood was collected via finger-prick method to monitor the glycemic response of every individual for 90 min after ingestion of sugar solution.

    RESULTS: It was found that the mean area under the curve (AUC) of the dextrose standard was 11.8-fold higher (p 

  3. Singh S, Srivastava B, Gupta K, Gupta N, Singh R, Singh S
    Int J Clin Pediatr Dent, 2020 8 4;13(2):119-123.
    PMID: 32742086 DOI: 10.5005/jp-journals-10005-1718
    Aim and objective: The aim of this study was to evaluate and compare the antifungal efficacy of MTA Fillapex, Metapex, zinc oxide eugenol cement, Endomethasone, and Endoflas against Candida albicans.

    Materials and methods: Root canal exudates of 30 patients were tested against MTA Fillapex (Angelus), Metapex (BioMed), zinc oxide eugenol (Deepak Enterprise), Endomethasone (Septodont), Endoflas FS (Sanlor Laboratories), MTA (Angelus) (positive control), and glycerine (negative control). Children with failed endodontic cases were included in the study. Tube dilution and agar diffusion methods were used to check the antifungal efficacy of the root canal sealers. In tube dilution method, 24-well culture plates containing freshly mixed material along with Candida albicans were used. Wells containing MTA (Angelus) along with Sabouraud dextrose agar and Candida albicans served as positive control while glycerine along with Sabouraud dextrose agar and Candida albicans served as negative control. All plates were incubated at 37°C for 24 hours. Growth of the fungi was monitored after 24 hours by the presence of the turbidity. The samples were recultured to test the experimental material using agar well diffusion method, and the Petri plates were incubated for 24 hours and 72 hours. Zone of inhibition was measured after respective time period. Paired t test was used for the data analysis.

    Results: It was seen in tube dilution method Endomethasone showed least turbidity while maximum was shown by Metapex; similar results were seen in case of agar well diffusion method in which largest zone of inhibition was shown by Endomethasone while smallest was by Metapex.

    Conclusion: It was concluded that Endomethasone showed maximum efficacy against Candida albicans as compared to Metapex.

    How to cite this article: Singh S, Srivastava B, Gupta K, et al. Comparative Evaluation of Antifungal Efficacy of Five Root Canal Sealers against Clinical Isolates of Candida albicans: A Microbiological Study. Int J Clin Pediatr Dent 2020;13(2):119-123.

  4. Maddani SS, Gupta N, Umakanth S, Joylin S, Saravu K
    Indian J Crit Care Med, 2021 May;25(5):535-539.
    PMID: 34177173 DOI: 10.5005/jp-journals-10071-23801
    INTRODUCTION: Coronavirus disease-2019 (COVID-19) pandemic has overloaded the healthcare system beyond its functional capacity. Late referral to higher levels of care may be one of the factors associated with higher mortality. Therefore, we aimed to find simple demographic and laboratory parameters which predict the requirement of admission to a critical care unit.

    MATERIALS AND METHODS: A case-control study was undertaken in adult age population >18 years, admitted in a dedicated COVID hospital in South India. A total of 50 patients with severe disease (cases) were compared with 143 mild or asymptomatic cases (controls). Those demographic and laboratory parameters that were found to be significant on univariate analysis were used for multiple logistic regression analysis.

    RESULTS: Univariate analysis of demographic and laboratory data showed higher age, male sex, presence of diabetes mellitus, higher values of C-reactive protein, ferritin, D-dimer, neutrophil-lymphocyte ratio (NLR), and lactate dehydrogenase to be significantly associated with cases. Multivariate logistic regression analysis of these significant variables showed NLR and ferritin to be the independent predictors of the requirement of admission to a critical care unit. The receiver-operating characteristic curve showed an NLR value of 5.2 and a ferritin value of 462 μg/L that were able to predict the requirement of admission in critical care units.

    CONCLUSION: High ferritin and NLR were independent predictors of the requirement of admission in critical care units. NLR is a simple tool that can be used in resource-limited settings for triage and early referral to higher levels of care.

    HOW TO CITE THIS ARTICLE: Maddani SS, Gupta N, Umakanth S, Joylin S, Saravu K. Neutrophil-Lymphocyte Ratio in Patients with COVID-19 as a Simple Tool to Predict Requirement of Admission to a Critical Care Unit. Indian J Crit Care Med 2021;25(5):535-539.

  5. Gupta N, John A, Kokkottil MS, Varma M, Umakanth S, Saravu K
    Drug Discov Ther, 2021 Mar 10;15(1):1-8.
    PMID: 33642450 DOI: 10.5582/ddt.2020.03068
    Despite the high number of coronavirus disease-19 (COVID-19) cases from India, there are few reports from India describing the clinical epidemiology of COVID-19. This study aimed to describe the clinical/epidemiological characteristics and outcomes of asymptomatic vs. symptomatic COVID-19 patients. This was a retrospective chart review of all admitted patients with COVID-19 above 18 years with a history of travel within one month of the admission. The patients were categorized into asymptomatic and symptomatic. The symptomatic patients were further classified into mild, moderate and severe. The demographic profile, risk factors, clinical features, laboratory parameters, treatment details and outcome of all patients were recorded. The clinical and laboratory parameters were compared between symptomatic patients and asymptomatic patients. Of the 127 recruited patients, 75 were asymptomatic. Of the 52 symptomatic patients, 41 patients were classified as a mild illness. The mean age of the patients was 44.5 ± 15 years. A total of 73 patients had one or more risk factors. The male patients were more commonly found to be symptomatic compared to female patients. Neutrophil-lymphocyte ratio, C-reactive protein and lactate dehydrogenase were significantly elevated in symptomatic patients. A total of five individuals required supplemental oxygen therapy, and one of them required mechanical ventilation. All the patients had favourable outcomes. Asymptomatic and mild illness form a significant proportion of positive patients and have excellent outcomes without therapeutic interventions.
  6. Kamath SM, Sridhar K, Jaison D, Gopinath V, Ibrahim BKM, Gupta N, et al.
    Sci Rep, 2020 10 23;10(1):18179.
    PMID: 33097770 DOI: 10.1038/s41598-020-74885-1
    Modulation of initial burst and long term release from electrospun fibrous mats can be achieved by sandwiching the drug loaded mats between hydrophobic layers of fibrous polycaprolactone (PCL). Ibuprofen (IBU) loaded PCL fibrous mats (12% PCL-IBU) were sandwiched between fibrous polycaprolactone layers during the process of electrospinning, by varying the polymer concentrations (10% (w/v), 12% (w/v)) and volume of coat (1 ml, 2 ml) in flanking layers. Consequently, 12% PCL-IBU (without sandwich layer) showed burst release of 66.43% on day 1 and cumulative release (%) of 86.08% at the end of 62 days. Whereas, sandwich groups, especially 12% PCLSW-1 & 2 (sandwich layers-1 ml and 2 ml of 12% PCL) showed controlled initial burst and cumulative (%) release compared to 12% PCL-IBU. Moreover, crystallinity (%) and hydrophobicity of the sandwich models imparted control on ibuprofen release from fibrous mats. Further, assay for cytotoxicity and scanning electron microscopic images of cell seeded mats after 5 days showed the mats were not cytotoxic. Nuclear Magnetic Resonance spectroscopic analysis revealed weak interaction between ibuprofen and PCL in nanofibers which favors the release of ibuprofen. These data imply that concentration and volume of coat in flanking layer imparts tighter control on initial burst and long term release of ibuprofen.
  7. Gupta N, Saravu K, Varma M, Pm A, Shetty S, Umakanth S
    J Trop Pediatr, 2021 01 29;67(1).
    PMID: 33280033 DOI: 10.1093/tropej/fmaa081
    The susceptibility of children to coronavirus disease-19 (COVID-19) and transmission of COVID-19 from children to others is a relatively unexplored area. The aim of this study was to understand the transmission dynamics of Severe Acute Respiratory Syndrome Coronavirus 2 in children. This was a retrospective observational study where a total of 19 paediatric index cases (including a set of twins) with COVID-19 and 42 primary contacts (adults-36, paediatric-6) from the immediate family members were included. All the index cases and four of the five positive contacts were asymptomatic. Despite adults staying with positive children in the same vehicle, same room in the quarantine centre and the same ward, only four of the parents became positive.
  8. Gupta N, Yadav KK, Kumar V, Krishnan S, Kumar S, Nejad ZD, et al.
    Environ Toxicol Pharmacol, 2021 Feb;82:103563.
    PMID: 33310081 DOI: 10.1016/j.etap.2020.103563
    This study determined the heavy metals (HMs) accumulation in different vegetables in different seasons and attributed a serious health hazard to human adults due to the consumption of such vegetables in Jhansi. The total amounts of zinc (Zn), lead (Pb), nickel (Ni), manganese (Mn), copper (Cu), cobalt (Co), and cadmium (Cd) were analysed in 28 composite samples of soil and vegetables (Fenugreek, spinach, eggplant, and chilli) collected from seven agricultural fields. The transfer factor (TF) of HMs from soil to analysed vegetables was calculated, and significant non-carcinogenic health risks due to exposure to analysed heavy metals via consumption of these vegetables were computed. The statistical analysis involving Principal Component Analysis (PCA) and Pearson's correlation matrix suggested that anthropogenic activities were a major source of HMs in the study areas. The target hazard quotient of Cd, Mn, and Pb for fenugreek (2.156, 2.143, and 2.228, respectively) and spinach (3.697, 3.509, 5.539, respectively) exceeded the unity, indicating the high possibilities of non-carcinogenic health risks if regularly consumed by human beings. This study strongly suggests the continuous monitoring of soil, irrigation water, and vegetables to prohibit excessive accumulation in the food chain.
  9. Anwar ET, Gupta N, Porwal O, Sharma A, Malviya R, Singh A, et al.
    PMID: 34579638 DOI: 10.2174/1871526521666210927120334
    BACKGROUND: In the rural areas of sub-Saharan African regions, skin diseases are so common. Due to which the population of the sub-Saharan region suffers from different types of skin disorders. In these regions, many treatment options are not available for the treatment of skin disease.

    AIM: The current study aims to discuss various skin diseases and their treatment strategies specifically in sub-Saharan African regions.

    METHOD: Extensive literature survey was carried out by using scopus, science direct, elsevier, google scholar and bentham science databases.

    RESULT AND DISCUSSION: It was demonstrated from the literature surveys that different effective techniques are used in the management of skin disease. In the result, it was shown that the condition of the disease is at a dangerous level which must be controlled.

    CONCLUSION: It is concluded from the manuscript that the skin disorder in the sub-Saharan region is at a very dangerous level. The research must be done to develop a better understanding of the disease and its treatment.

  10. Banerjee S, Gupta N, Kodan P, Mittal A, Ray Y, Nischal N, et al.
    Intractable Rare Dis Res, 2019 Feb;8(1):1-8.
    PMID: 30881850 DOI: 10.5582/irdr.2018.01130
    Nipah virus, an enveloped ribonucleic acid virus, has been a major cause of encephalitis out-breaks with high mortality, primarily in the Indo-Bangladesh regions. Except for the first outbreak in Malaysia-Singapore, which was related to contact with pigs and the outbreak in Philippines associated with horse slaughter, most other outbreaks have affected the Indo- Bangladesh regions. The Indo-Bangladesh outbreaks were associated with consumption of raw date palm sap contaminated by fruit bats and had a very high secondary attack rate. The patient usually presents with fever, encephalitis and/or respiratory involvement with or without thrombocytopenia, leukopenia and transaminitis. Diagnosis can be confirmed by isolation and nucleic acid amplification in the acute phase or antibody detection during the convalescent phase. Treatment is mostly limited to supportive care and syndromic management of acute encephalitis syndrome. Ribavirin, m102.4 monoclonal antibody and favipiravir are the only anti-virals with some activity against Nipah virus. Standard precautions, hand hygiene and personal protective equipments are the cornerstone of comprehensive infection prevention and control strategy. With the recent outbreaks affecting newer geographical areas, there is a need for physicians to be aware of this disease and keep abreast of its current detection and management strategies.
  11. Sonam Dongsar T, Tsering Dongsar T, Molugulu N, Annadurai S, Wahab S, Gupta N, et al.
    Environ Res, 2023 Sep 15;233:116455.
    PMID: 37356522 DOI: 10.1016/j.envres.2023.116455
    Breast carcinoma is a molecularly diverse illness, and it is among the most prominent and often reported malignancies in female across the globe. Surgical intervention, chemotherapy, immunotherapy, gene therapy, and endocrine treatment are among the currently viable treatment options for the carcinoma of breast. Chemotherapy is among the most prevalent cancer management strategy. Doxorubicin (DOX) widely employed as a cytostatic medication for the treatment of a variety of malignancies. Despite its widespread acceptance and excellent efficacy against an extensive line up of neoplasia, it has a variety of shortcomings that limit its therapeutic potential in the previously mentioned indications. Employment of nanoparticulate systems has come up as a unique chemo medication delivery strategy and are being considerably explored for the amelioration of breast carcinoma. Polylactic-co-glycolic acid (PLGA)-based nano systems are being utilized in a number of areas within the medical research and medication delivery constitutes one of the primary functions for PLGA given their inherent physiochemical attributes, including their aqueous solubility, biocompatibility, biodegradability, versatility in formulation, and limited toxicity. Herein along with the different application of PLGA-based nano formulations in cancer therapy, the present review intends to describe the various research investigations that have been conducted to enumerate the effectiveness of DOX-encapsulated PLGA nanoparticles (DOX-PLGA NPs) as a feasible treatment option for breast cancer.
  12. Voon W, Hum YC, Tee YK, Yap WS, Nisar H, Mokayed H, et al.
    Sci Rep, 2023 Nov 22;13(1):20518.
    PMID: 37993544 DOI: 10.1038/s41598-023-46619-6
    Debates persist regarding the impact of Stain Normalization (SN) on recent breast cancer histopathological studies. While some studies propose no influence on classification outcomes, others argue for improvement. This study aims to assess the efficacy of SN in breast cancer histopathological classification, specifically focusing on Invasive Ductal Carcinoma (IDC) grading using Convolutional Neural Networks (CNNs). The null hypothesis asserts that SN has no effect on the accuracy of CNN-based IDC grading, while the alternative hypothesis suggests the contrary. We evaluated six SN techniques, with five templates selected as target images for the conventional SN techniques. We also utilized seven ImageNet pre-trained CNNs for IDC grading. The performance of models trained with and without SN was compared to discern the influence of SN on classification outcomes. The analysis unveiled a p-value of 0.11, indicating no statistically significant difference in Balanced Accuracy Scores between models trained with StainGAN-normalized images, achieving a score of 0.9196 (the best-performing SN technique), and models trained with non-normalized images, which scored 0.9308. As a result, we did not reject the null hypothesis, indicating that we found no evidence to support a significant discrepancy in effectiveness between stain-normalized and non-normalized datasets for IDC grading tasks. This study demonstrates that SN has a limited impact on IDC grading, challenging the assumption of performance enhancement through SN.
  13. Deori A, Gupta N, Gupta AK, Yelamanchi R, Agrawal H, Durga CK
    Malays J Med Sci, 2021 Feb;28(1):97-104.
    PMID: 33679225 DOI: 10.21315/mjms2021.28.1.12
    Background: Axillary dissection is one of the important components of modified radical mastectomy (MRM). The present study was conducted to compare surgical outcomes by using monopolar electrocautery and ultrasonic dissector for axillary dissection in MRM.

    Methods: A parallel randomised controlled single blinded study was conducted with a sample size of 70 patients who were randomised into two groups. One group underwent MRM using ultrasonic dissector (Group A) and the other one using electrocautery (Group B). Intra- and post-operative outcomes were compared.

    Results: Group A had an average operating time of 30.86 min, which was statistically less than that of Group B. The mean mop count and the daily drain output in Group A were less as compared to Group B and the differences were statistically significant. Drain was removed early in Group A as compared to Group B. However, post-operative pain scores and seroma formation were not statistically significant among the two groups.

    Conclusion: Ultrasonic dissector group had significantly lesser intra-operative bleeding, operating time and post-operative drain output when compared to electrocautery group. However, the two groups had no significant difference in post-operative pain scores and seroma formation.

  14. Kumar S, Prasad S, Yadav KK, Shrivastava M, Gupta N, Nagar S, et al.
    Environ Res, 2019 12;179(Pt A):108792.
    PMID: 31610391 DOI: 10.1016/j.envres.2019.108792
    This review emphasizes the role of toxic metal remediation approaches due to their broad sustainability and applicability. The rapid developmental processes can incorporate a large quantity of hazardous and unseen heavy metals in all the segments of the environment, including soil, water, air and plants. The released hazardous heavy metals (HHMs) entered into the food chain and biomagnified into living beings via food and vegetable consumption and originate potentially health-threatening effects. The physical and chemical remediation approaches are restricted and localized and, mainly applied to wastewater and soils and not the plant. The nanotechnological, biotechnological and genetical approaches required to more rectification and sustainability. A cellular, molecular and nano-level understanding of the pathways and reactions are responsible for potentially toxic metals (TMs) accumulation. These approaches can enable the development of crop varieties with highly reduced concentrations of TMs in their consumable foods and vegetables. As a critical analysis by authors observed that nanoparticles could provide very high adaptability for both in-situ and ex-situ remediation of hazardous heavy metals (HHMs) in the environment. These methods could be used for the improvement of the inbuilt genetic potential and phytoremediation ability of plants by developing transgenic. These biological processes involve the transfer of gene of interest, which plays a role in hazardous metal uptake, transport, stabilization, inactivation and accumulation to increased host tolerance. This review identified that use of nanoremediation and combined biotechnological and, transgenic could help to enhance phytoremediation efficiency in a sustainable way.
  15. Malviya R, Tyagi A, Fuloria S, Subramaniyan V, Sathasivam K, Sundram S, et al.
    Polymers (Basel), 2021 May 10;13(9).
    PMID: 34068768 DOI: 10.3390/polym13091531
    Transdermal drug delivery is used to deliver a drug by eliminating the first-pass metabolism, which increases the bioavailability of the drug. The present study aims to formulate the chitosan-tamarind seed polysaccharide composite films and evaluate for the delivery of protein/peptide molecules. Nine formulations were prepared and evaluated by using different parameters, such as physical appearance, folding endurance, thickness of film, surface pH, weight variation, drug content, surface morphology, percentage moisture intake and uptake, drug release kinetics, and drug permeability. The film weight variance was observed between 0.34 ± 0.002 to 0.47 ± 0.003 g. The drug level of the prepared films was found to be between 96 ± 1.21 and 98 ± 1.33μg. Their intake of moisture ranged between 2.83 ± 0.002 and 3.76 ± 0.001 (%). The moisture absorption of the films ranged from 5.33 ± 0.22 to 10.02 ± 0.61 (%). SEM images revealed a smooth film surface, while minor cracks were found in the film after permeation tests. During the first 4 days, drug release was between 13.75 ± 1.64% and 22.54 ± 1.34% and from day 5 to day 6, it was between 72.67 ± 2.13% and 78.33 ± 3.13%. Drug permeation during the first 4 days was 15.78 ± 1.23 %. Drug permeation (%) during the first 4 days was between 15.78 ± 1.23 and 22.49 ± 1.29 and from day 5 to day 6, it was between 71.49 ± 3.21 and 77.93 ± 3.20.
  16. Yadav KK, Kumar S, Pham QB, Gupta N, Rezania S, Kamyab H, et al.
    Ecotoxicol Environ Saf, 2019 Oct 30;182:109362.
    PMID: 31254856 DOI: 10.1016/j.ecoenv.2019.06.045
    In low concentration, fluoride is considered a necessary compound for human health. Exposure to high concentrations of fluoride is the reason for a serious disease called fluorosis. Fluorosis is categorized as Skeletal and Dental fluorosis. Several Asian countries, such as India, face contamination of water resources with fluoride. In this study, a comprehensive overview on fluoride contamination in Asian water resources has been presented. Since water contamination with fluoride in India is higher than other Asian countries, a separate section was dedicated to review published articles on fluoride contamination in this country. The status of health effects in Asian countries was another topic that was reviewed in this study. The effects of fluoride on human organs/systems such as urinary, renal, endocrine, gastrointestinal, cardiovascular, brain, and reproductive systems were another topic that was reviewed in this study. Different methods to remove fluoride from water such as reverse osmosis, electrocoagulation, nanofiltration, adsorption, ion-exchange and precipitation/coagulation were introduced in this study. Although several studies have been carried out on contamination of water resources with fluoride, the situation of water contamination with fluoride and newly developed technology to remove fluoride from water in Asian countries has not been reviewed. Therefore, this review is focused on these issues: 1) The status of fluoride contamination in Asian countries, 2) health effects of fluoride contamination in drinking water in Asia, and 3) the existing current technologies for defluoridation in Asia.
  17. Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, et al.
    Mol Genet Metab, 2020 11;131(3):285-288.
    PMID: 33004274 DOI: 10.1016/j.ymgme.2020.09.004
    Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.
  18. Whitcroft KL, Altundag A, Balungwe P, Boscolo-Rizzo P, Douglas R, Enecilla MLB, et al.
    Rhinology, 2023 Oct 01;61(33):1-108.
    PMID: 37454287 DOI: 10.4193/Rhin22.483
    BACKGROUND: Since publication of the original Position Paper on Olfactory Dysfunction in 2017 (PPOD-17), the personal and societal burden of olfactory disorders has come sharply into focus through the lens of the COVID-19 pandemic. Clinicians, scientists and the public are now more aware of the importance of olfaction, and the impact of its dysfunction on quality of life, nutrition, social relationships and mental health. Accordingly, new basic, translational and clinical research has resulted in significant progress since the PPOD-17. In this updated document, we present and discuss currently available evidence for the diagnosis and management of olfactory dysfunction. Major updates to the current version include, amongst others: new recommendations on olfactory related terminology; new imaging recommendations; new sections on qualitative OD and COVID-19 OD; updated management section. Recommendations were agreed by all co-authors using a modified Delphi process.

    CONCLUSIONS: We have provided an overview of current evidence and expert-agreed recommendations for the definition, investigation, and management of OD. As for our original Position Paper, we hope that this updated document will encourage clinicians and researchers to adopt a common language, and in so doing, increase the methodological quality, consistency, and generalisability of work in this field.

  19. Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, et al.
    Am J Med Genet A, 2020 12;182(12):2939-2950.
    PMID: 32985117 DOI: 10.1002/ajmg.a.61888
    Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p 
  20. Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, et al.
    Am J Med Genet A, 2020 Feb;182(2):303-313.
    PMID: 31854143 DOI: 10.1002/ajmg.a.61461
    Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
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