Healthcare providers as patients: COVID-19 experience

There is compelling evidence for the psychological effects of the COVID-19 pandemic and earlier epidemics. However, fewer studies have examined the subjective meaning experience of healthcare providers who have survived COVID-19 as patients. This qualitative study aimed to understand further and describe the life experiences of healthcare providers who have survived COVID-19 as patients in Saudi Arabia. Data was collected using unstructured in-depth individual interviews among n = 10 healthcare providers from public hospitals in Saudi Arabia. Data were analyzed based on a phenomenological approach, which resulted in five themes: (i) physical and psychological signs and symptoms; (ii) self-healing, hiding pain, and family; (iii) fear of complications; (iv) disease stigma & long-term psychological outcomes; (v) emotional support, mental well-being & resignation. The overall synthesis showed that healthcare providers, as patients, experience the same difficulties and stressors as the general public. In some cases, these factors are even worse, as family members, colleagues, and employers develop a new type of stigma. Given the impact of social media and the flow of information of any type, more research is needed to examine the sources used to obtain information by the general public, whether these sources are reliable, and how the public can be taught to use only scientific data and not social data. Understanding the experience of healthcare providers as patients during the pandemic has allowed to look at the feelings and needs of people during illness from a new perspective. As expressed by participants, being a healthcare provider does not reduce the fear of the disease and does not mitigate its consequences in the form of stigmatization and isolation

Oral manifestations associated with Novel Coronavirus Disease - 2019 (COVID-19): A questionnaire based hypothetical study [version 2; peer review: 2 approved]

Background: Since the Coronavirus disease 2019 (COVID-19) outbreak in 2019, the virus has evolved drastically, presenting with sets of mutations that influence its properties, including transmissibility and antigenicity. The oral mucosa is postulated as probable portal entry and several oral manifestations have been identified, which places dental professionals in a position to recognize probable COVID-19 patients depending on oral signs and symptoms in the initial phases of the disease itself. As co-existing with COVID-19 seems to be a new reality, greater understanding is required regarding early oral signs and symptoms which can be predictors for timely intervention and prevention of complications in COVID-19 patients. The objective of the study is to identify the distinguishing oral signs and symptoms among COVID-19 patients and to establish possible correlation between severity of COVID-19 infection and oral symptoms. Methods: This study recruited 179 ambulatory, non-hospitalized COVID-19 patients from the Kingdom of Saudi Arabia’s Eastern Province's designated hotels for COVID-19 and home isolated patients from the same region using a convenience sample method. Data was collected by qualified and experienced investigators, including two physicians and three dentists, using a validated comprehensive questionnaire through telephonic interviews with the participants. The X2 was used to assess the categorical variables, and odd's ratio was calculated to determine the strength of the association between general symptoms and oral manifestations. Results: Oral and nasopharyngeal lesions or conditions like loss of smell and taste, xerostomia, sore throat, and burning sensation were predictors of COVID-19-related systemic symptoms such as cough, fatigue, fever, and nasal congestion were identified to be statistically significant (p<0.05). Conclusions: The study reveals the occurrence of olfactory or taste dysfunction, dry mouth, sore throat, and burning sensation along with COVID-19 generic symptoms, should be considered as suggestive yet not conclusive indicators of COVID-19

In Vivo Investigation of the Ameliorating Effect of Copper Albumin Complex on chondroitin sulfate in Monosodium iodoacetate -Induced Knee Osteoarthritis

Osteoarthritis (OA) is a condition that manifests as cartilage deterioration and subchondral bone sclerosis in the joint tissues. The weight-bearing joint is most severely impacted by OA. According to some research, consuming foods high in copper albumin complex (cu-albumin complex) can help with OA-related joint degeneration and pain relief. The current study's objective to determine how oral administration of the cu-albumin complex as an anti-inflammatory medication affected the development of rat knee osteoarthritis (KOA). Fifty adult albino rats were divided into three groups: negative control untreated (n= 10, no KOA induction); positive untreated control (n= 20, KOA induction); and treated group (n= 20, KOA induction with administration of cu-albumin complex). According to the severity of the clinical symptoms, treated and untreated arthritic groups were equally divided into mild and severe groups (n=10). Monosodium iodoacetate (MIA) was used as intra-articular injection for osteoarthritis induction. Rats were euthanized after a month of the beginning of the experiment, and the joints were examined histopathologically and immunohistochemically. It was indicated that the treatment was effective in reducing KOA severity and in improvement of chondroitin sulfate of the affected cartilages. In conclusion, the structure of the chondroitin sulphate in the knee joint cartilages of KOA-affected rats was modified by the cu-albumin complex

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw values of the posterior distribution. Findings: Global health has steadily improved over the past 30 years as measured by age-standardised DALY rates. After taking into account population growth and ageing, the absolute number of DALYs has remained stable. Since 2010, the pace of decline in global age-standardised DALY rates has accelerated in age groups younger than 50 years compared with the 1990–2010 time period, with the greatest annualised rate of decline occurring in the 0–9-year age group. Six infectious diseases were among the top ten causes of DALYs in children younger than 10 years in 2019: lower respiratory infections (ranked second), diarrhoeal diseases (third), malaria (fifth), meningitis (sixth), whooping cough (ninth), and sexually transmitted infections (which, in this age group, is fully accounted for by congenital syphilis; ranked tenth). In adolescents aged 10–24 years, three injury causes were among the top causes of DALYs: road injuries (ranked first), self-harm (third), and interpersonal violence (fifth). Five of the causes that were in the top ten for ages 10–24 years were also in the top ten in the 25–49-year age group: road injuries (ranked first), HIV/AIDS (second), low back pain (fourth), headache disorders (fifth), and depressive disorders (sixth). In 2019, ischaemic heart disease and stroke were the top-ranked causes of DALYs in both the 50–74-year and 75-years-and-older age groups. Since 1990, there has been a marked shift towards a greater proportion of burden due to YLDs from non-communicable diseases and injuries. In 2019, there were 11 countries where non-communicable disease and injury YLDs constituted more than half of all disease burden. Decreases in age-standardised DALY rates have accelerated over the past decade in countries at the lower end of the SDI range, while improvements have started to stagnate or even reverse in countries with higher SDI. Interpretation: As disability becomes an increasingly large component of disease burden and a larger component of health expenditure, greater research and developm nt investment is needed to identify new, more effective intervention strategies. With a rapidly ageing global population, the demands on health services to deal with disabling outcomes, which increase with age, will require policy makers to anticipate these changes. The mix of universal and more geographically specific influences on health reinforces the need for regular reporting on population health in detail and by underlying cause to help decision makers to identify success stories of disease control to emulate, as well as opportunities to improve. Funding: Bill & Melinda Gates Foundation. © 2020 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licens

Carbapenem resistance expressed by Gram-negative bacilli isolated from a cohort of Libyan patients

Background and objectives: Carbapenem-resistant Enterobacteriaceae (CRE) and other Gram-negative bacteria are among the most common pathogens responsible for both community and hospital acquired infection. The global spread of cephalosporinases in Enterobacteriaceae has led to the increased use of carbapenems resulting in the emergence and rapid spread of CRE. This has become an alarming public health concern, yet the condition in Libya remains unclear. The aim of this study was to obtain a better understanding of CRE strains prevalent in Libyan patients by investigating their phenotypic characteristics and antibiograms. Methods: Gram-negative bacterial species were collected from Misrata Central Hospital, Misrata Cancer Centre and Privet Pathology Laboratories. Clinical samples and swabs were obtained from hospitalised and non-hospitalised patients and from mechanical ventilation and suction machines. Patients who had received antibiotic therapy for at least three days prior to the study were excluded. The identification and characterization of the isolated species were achieved using the growth characteristics on MacConkey and blood agar, spot tests and API 20E or API 20NE biochemical testing systems. Screening for carbapenem resistance was performed using the disk diffusion method with carbapenem 10 μg and cephalosporin 30 μg disks and minimum inhibitory concentrations (MIC) determined using the Sensititre Gram-negative Xtra plate format (GNX2F). All strains demonstrating resistance or reduced susceptibility to one of the four carbapenems were subjected to carbapenememase activity detection using the RAPIDEC CARBA NP test, Modified Hodge test and carbapenem inactivation methods. Results: A total of one hundred and forty isolates representing fourteen bacterial species were isolated from 140 non-duplicated specimens. Clinical specimens included urine samples (96/140, 68.57%), sputum (15/140, 10.71%), surgical wound swabs (18/140, 12.85%), foot swabs from diabetes mellitus (DM) patients (6/140, 4.29%), ear swabs (3/140, 2.14%) and wound swabs (2/140, 1.43%). Thirty-four (24.29%) isolates demonstrated resistance to at least one of the four carbapenems with Klebsiella pneumoniae representing 73.53% (25 isolates) of all carbapenem resistant species, followed by 8.82% for Pseudomonas aeruginosa (3 isolates), 5.88% for both Proteus mirabilis (2 isolates) and Escherichia coli (2 isolates) and 2.94% for both Citrobacter koseri (1 isolate) and Rahnella aquatilis (1 isolate). The other isolates were either susceptible or cephalosporinase producers. Conclusion: This study has revealed the high rate of carbapenem resistance amongst Libyan patients and emphasizes the crucial need for accurate screening, identification and susceptibility testing to prevent further spread of nosocomial and community acquired resistance. This may be achieved through the establishment of antibiotic stewardship programmes along with firm infection control practices.National Research Foundation of South Africa; Libyan GovernmentWeb of Scienc

Effects of antibiotic resistance, drug target attainment, bacterial pathogenicity and virulence, and antibiotic access and affordability on outcomes in neonatal sepsis: an international microbiology and drug evaluation prospective substudy (BARNARDS)

Background Sepsis is a major contributor to neonatal mortality, particularly in low-income and middle-income countries (LMICs). WHO advocates ampicillin–gentamicin as first-line therapy for the management of neonatal sepsis. In the BARNARDS observational cohort study of neonatal sepsis and antimicrobial resistance in LMICs, common sepsis pathogens were characterised via whole genome sequencing (WGS) and antimicrobial resistance profiles. In this substudy of BARNARDS, we aimed to assess the use and efficacy of empirical antibiotic therapies commonly used in LMICs for neonatal sepsis. Methods In BARNARDS, consenting mother–neonates aged 0–60 days dyads were enrolled on delivery or neonatal presentation with suspected sepsis at 12 BARNARDS clinical sites in Bangladesh, Ethiopia, India, Pakistan, Nigeria, Rwanda, and South Africa. Stillborn babies were excluded from the study. Blood samples were collected from neonates presenting with clinical signs of sepsis, and WGS and minimum inhibitory concentrations for antibiotic treatment were determined for bacterial isolates from culture-confirmed sepsis. Neonatal outcome data were collected following enrolment until 60 days of life. Antibiotic usage and neonatal outcome data were assessed. Survival analyses were adjusted to take into account potential clinical confounding variables related to the birth and pathogen. Additionally, resistance profiles, pharmacokinetic–pharmacodynamic probability of target attainment, and frequency of resistance (ie, resistance defined by in-vitro growth of isolates when challenged by antibiotics) were assessed. Questionnaires on health structures and antibiotic costs evaluated accessibility and affordability. Findings Between Nov 12, 2015, and Feb 1, 2018, 36 285 neonates were enrolled into the main BARNARDS study, of whom 9874 had clinically diagnosed sepsis and 5749 had available antibiotic data. The four most commonly prescribed antibiotic combinations given to 4451 neonates (77·42%) of 5749 were ampicillin–gentamicin, ceftazidime–amikacin, piperacillin–tazobactam–amikacin, and amoxicillin clavulanate–amikacin. This dataset assessed 476 prescriptions for 442 neonates treated with one of these antibiotic combinations with WGS data (all BARNARDS countries were represented in this subset except India). Multiple pathogens were isolated, totalling 457 isolates. Reported mortality was lower for neonates treated with ceftazidime–amikacin than for neonates treated with ampicillin–gentamicin (hazard ratio [adjusted for clinical variables considered potential confounders to outcomes] 0·32, 95% CI 0·14–0·72; p=0·0060). Of 390 Gram-negative isolates, 379 (97·2%) were resistant to ampicillin and 274 (70·3%) were resistant to gentamicin. Susceptibility of Gram-negative isolates to at least one antibiotic in a treatment combination was noted in 111 (28·5%) to ampicillin–gentamicin; 286 (73·3%) to amoxicillin clavulanate–amikacin; 301 (77·2%) to ceftazidime–amikacin; and 312 (80·0%) to piperacillin–tazobactam–amikacin. A probability of target attainment of 80% or more was noted in 26 neonates (33·7% [SD 0·59]) of 78 with ampicillin–gentamicin; 15 (68·0% [3·84]) of 27 with amoxicillin clavulanate–amikacin; 93 (92·7% [0·24]) of 109 with ceftazidime–amikacin; and 70 (85·3% [0·47]) of 76 with piperacillin–tazobactam–amikacin. However, antibiotic and country effects could not be distinguished. Frequency of resistance was recorded most frequently with fosfomycin (in 78 isolates [68·4%] of 114), followed by colistin (55 isolates [57·3%] of 96), and gentamicin (62 isolates [53·0%] of 117). Sites in six of the seven countries (excluding South Africa) stated that the cost of antibiotics would influence treatment of neonatal sepsis

Fabrication of Selective Sensors for Hg2+ Traces in Water Using Graphene Decorated with Metal Nanoclusters

Mercury metal is released into water by different sources including sewage industrial waste, thus, it can enter human food chain. It is considered one of the most harmful pollutant of heavy metals since it is non-biodegradable, and it can enter to human body by different means including direct consumption (for example, through drinking water), absorption through skin, and by respiratory system. Exposure to mercury cause severe effects on human health such as brain damage, kidney failure, damage in the nervous system, birth defects, chromosome breakage, and paralysis [1, 2]. The United Nation Environment Program (UNEP) assessed the annual released quantity of mercury to 4400-7500 tons [3]. In addition, the International World Health Organization regulated the maximum allowed amount of mercury ions (Hg2+) in drinking water to 6 ppb [4]. Nevertheless, previous studies estimated the allowed amount of inorganic Hg2+ in water to 0.5 ppb [5]. Therefore, the development of sensitive, selective, reliable, and cost effective Hg2+ sensors is needed for medical diagnostic, quality control of food industry, as well as water and environment quality monitoring. In this work, we present novel conductometric sensors based on graphene and Au nanoclusters that are highly selective to Hg2+ ions. Electrical electrodes were deposited on the surface of graphene by thermal evaporation. Au nanoclusters were produced by sputtering and inert gas condensation technique inside an ultra-high vacuum chamber, and they were self-assembled on the surface of graphene. To the best of our knowledge, the sensors reported here are the first conductometric sensors based on graphene and Au nanoclusters that are utilized for detection of Hg2+ traces in water. These sensors were exceedingly sensitive to Hg2+ ions, therefore, they have potential to be applied for practical life applications. Gold nanoclusters were produced by the sputtering and inert gas condensation technique inside an ultra-high vacuum system. The system consists of three main chambers (source, mass filter, and deposition chambers) that were pumped initially to a base pressure of 10-8 mbar using two turbo pumps. A gold target of purity 99.99% (Testbourne ltd, UK) was fixed on a water-cooled magnetron sputter head. Plasma was generated inside the source chamber using argon (Ar) inert gas, and it was used to sputter Au from its target through dc discharge type. The supplied Ar gas was also utilized to condense the sputtered material forming nanoclusters, and to create pressure gradient between the source and deposition chambers that enables the formed nanoclusters to travel to the deposition chamber. Each Hg2+ sensor was fabricated using (1 cm × 1 cm) commercial graphene layer on SiO2/doped-Si substrate (thickness of SiO2 is 285 nm, and Si is p-type with resistivity of 0.001-0.005 ohm.cm). Interdigitated parallel Au electrodes (with electrode separation of 100 μm) were fabricated by thermal evaporation using a Torr International evaporator through a shadow mask on the surface of graphene [6]. Two batches of sensors were tested in this work: i) sensors based on graphene only, and ii) sensors based on graphene and percolating films of Au nanoclusters, each has a thickness of 5 nm. For nanocluster deposition, each graphene sample was fixed on a cryostat finger. Nanocluster deposition rate was initially measured using a quartz crystal monitor (QCM) facing nanocluster beam and was fixed on a motorized linear translator. Next, the QCM was removed away from the sample, thus, nanoclusters were deposited on graphene surface. Sensitivity measurements were performed using Hg2+ solutions with different concentrations (0.05, 0.1, 0.3, 0.6, 3, 6, 20, 40, and 60 ppb). The selectivity was tested using 0.6 ppb solutions of the following ions: Cr2+, Cd2+, Cu2+, Co2+, Fe2+, Zn2+, and K+. The selectivity results of the sensor reveal that the fabricated sensors are selective to Hg2+ ions, and the selectivity is evidently enhanced for sensors with Au nanoclusters. The sensitivity of sensors decorated with Au nanoclusters to Hg2+ ions is higher than that for sensors made of graphene only, which could be assigned to the high binding affinity of Au nanoclusters to Hg2+ ions [7, 8]. This can be explained qualitatively bearing in mind previous studies that investigated the binding energy of the metal ions (under consideration in this work) with either graphene or Au nanoclusters. Upon investigating the binding energy of metal ions with graphene, it was reported that Hg2+ ions have the highest binding energy to graphene compared to other ions (Cr2+, Cd2+, Cu2+, Co2+, Fe3+, Zn2+, and K+), which exhibit slightly lower binding energy to graphene and thus their sensitivity signals are very comparative [8]. The sensitivity of Au nanostructures to Hg2+ ions was found to be large due to their high binding energy [7]. In addition, the binding energy of Hg2+ ions to Au nanostructures is evidently higher than that to the other metal ions investigated in this work [9], which makes the graphene-Au sensor selective to Hg2+ ions. The sensing mechanism of the graphene-based sensors can be summarized as follows: exposure of the graphene sensor to Hg2+ ions decreases electron concentration in the n-type graphene, thus, the conductance of the sensor decreases. Decoration of graphene with Au nanoclusters creates electron scattering centers that increase electron diffusive scattering which decreases electrical conductance. Adsorption of Hg2+ ions on Au nanoclusters causes further decrease in the conductance, which implies the increase in the sensitivity and selectivity of the sensor. In conclusion, the sensitivity of the present sensors is below the minimum allowed limit of Hg2+ in drinking water set by the World Health Organization and that set by the United States Environmental Protection Agency. These sensors are small in size and easy to carry outdoor and have low power requirements, thus, they have a potential to be used for practical field applications.qscienc

BACTEREMIA SCREENING OF CHILDREN AND THE FIRST DETECTION OF COLIFORMS IN BLOOD USING PCR TARGETING A PARTIAL SEQUENCE OF THE LacZ GENE

ABSTRACT Blood samples were collected from 135 children under 11years of age suspected with fever and sepsis in 2013, obtained from Welfare Teaching Hospital/Medical City/Baghdad. The blood samples were tested for bacteremia using conventional blood culture and polymerase chain reaction (PCR) targeting the 16s rRNA and the Lac Z gene. The results indicated that 69 (51.1% of the 135 screened) blood samples show positive cultures consisting of 55 (79.7% out of 69) gram-positive bacterial isolates and 14 (20.3% out of 69) gram negative isolates. Enterobacter spp was detected in 8 patients (11.6% out of 69, E. coli detected in 5 (7.2% out of 69 patients), Klebsiella pneumoniae detected in 1 (1.5% out of 69). All blood samples tested, 74 (54.8% out of 135) showed positive signals by PCR using the broad range primer targeting the 16s rRNA. Gram positive bacteria was detected in 60 samples (81% out of 74), whereas Gram negative bacteria was detected in 14 samples (19%out of 74). This study shows the potential approach of the PCR targeting the 16S rRNA gene and LacZ gene amplification for rapid detection of coliforms in blood in children

Association of Cytochrome CYP1A1 Gene Polymorphisms and Tobacco Smoking With the Risk of Breast Cancer in Women From Iraq

BackgroundCYP1A1 gene polymorphisms and tobacco smoking are among several risk factors for various types of cancers, but their influence on breast cancer remains controversial. We analyzed the possible association of CYP1A1 gene polymorphisms and tobacco smoking-related breast cancer in women from Iraq.Materials and methodsIn this case–control study, gene polymorphism of CYP1A1 gene (CYP1A1m1, T6235C and CYP1A1m2, A4889G) of 199 histologically verified breast cancer patients’ and 160 cancer-free control women’s specimens were performed by using PCR-based restriction fragment length polymorphism.ResultsThree genotype frequencies (TT, TC, and CC) of CYP1A1m1T/C appeared in 16.1, 29.6, and 54.3% of women with breast cancer, respectively, compared with 41.2, 40, and 18.8% in the control group, respectively. CYP1A1m1 CC genotype and C allele were significantly associated with increased risks for breast cancer in patients (54.3 and 69%, respectively) compared with controls (18.8 and 39%, respectively). While the three genotype frequencies (AA, AG, and GG) of CYP1A1m2A/G were detected in 20.1, 31.2, and 48.7% in patients compared with 46.3, 40.6, and 13.1% in controls, respectively. The frequency of GG genotypes and G allele was significantly higher in patients (48.7 and 64%, respectively) than in the controls (13.1 and 33%, respectively). Smoking women having either CC or GG genotypes showed a highly significant association with increased risk of breast cancer [odds ratio (OR) = 1.607, 95% confidence interval (CI) 0.91–1.64, p = 0.0001, and OR, 1.841, 95% CI, 0.88–1.67, p = 0.0001, respectively]. On the other hand, the T and A alleles of predominantly seen in healthy smoking women (83 and 85%, p = 0.0001, respectively).ConclusionThese findings indicated that both C and G alleles of CYP1A1m1 and m2 were significantly associated with elevated risk of breast cancer in Iraqi women, while the T and A alleles were predominantly seen in healthy controls which may indicate their protective role. The C and G association with breast cancer incidence was more prevalent among tobacco smoking patients. These polymorphisms may be used as biomarkers of breast cancer in women from Iraq

Identification of Novel Key Biomarkers in Simpson-Golabi-Behmel Syndrome (SGBS): Evidence from Bioinformatics Analysis

The Simpson-Golabi-Behmel Syndrome (SGBS) or overgrowth Syndrome is an uncommon genetic X-linked disorder highlighted by macrosomia, renal defects, cardiac weaknesses and skeletal abnormalities. The purpose of the work was to classify the functional nsSNPs of GPC3 to serve as genetic biomarkers for overgrowth syndrome. The raw data of GPC3 gene were retrieved from dbSNP database and used to examine the most damaging effect using eight functional analysis tools, while we used I-mutant and MUPro to examine the effect of SNPs on GPC3 protein structure; The 3D structure of GPC3 protein is not found in the PDB, so RaptorX was used to create a 3D structural prototype to visualize the amino acids alterations by UCSF Chimera; For biophysical validation we used project HOPE; Lastly we run conservational analysis by BioEdit and Consurf web server respectively. Our results revealed three novel missense mutations (rs1460413167, rs1295603457 and rs757475450) that are that are more likely to be responsible for disturbance in the function and structure of GPC3. This work provides new insight into the molecular basis of overgrowth Syndrome by evidence from bioinformatics analysis. Three novel missense mutations (rs757475450, rs1295603457 and rs1460413167) are more likely to be responsible for disturbance in the function and structure of GPC3; therefore, they may be assisting as genetic biomarkers for overgrowth syndrome. As well as these SNPs can be used for the larger population-based studies of overgrowth syndrome