scholarly journals Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening

2000 ◽  
Vol 7 (1) ◽  
pp. 46-51 ◽  
Author(s):  
G.J. Reclos ◽  
C.J. Hatzidakis ◽  
K.H. Schulpis

Objectives To provide preliminary evidence that the currently employed semiquantitative method of screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency can only detect infants who are totally deficient for G6PD and misses all cases of partial G6PD deficiency. Setting General population: 2150 randomly selected blood samples from the Blood Donation Department, Speliopouleion General Hospital, Athens, Greece. Neonate population: 2000 samples from neonates (50% male; 50% female) in maternity hospitals in the greater Athens area. High risk population: a total of 545 individuals from 133 families in the Athens area, the minimum acceptance criteria being the parents and any brother or sister. Method Blood specimens from neonates or adults were collected and either spotted and dried on special filter paper (Schleicher and Schull 2992, Darmstadt, Germany) or used in tubes after being heparinised. For the quantitative evaluation of G6PD enzyme activity, the Quantase G6PD screening kit (Quantase Limited, Perth, UK) was used. Quantase G6PD controls (Quantase Limited) were used at three levels of G6PD. These controls are rated at 24, 30, and 37°C. Alternatively, we used the Sigma G6PDH controls (Sigma Chemical Company, St Louis, USA) which are rated at 30 and 37°C. The assay was performed according to the instructions included in the kit with the modification for haemoglobin normalisation. Results General population: 36 females who were classified as having normal enzymatic activity with the semiquantitative test, were classified as partially deficient with the quantitative test. Neonate population: using the quantitative test, the percentage of G6PD deficient neonates in this population was 5.5%, compared with 3.17% reported in routine screening using the semiquantitative method. High risk population: the quantitative method detected 28 cases of total or partial G6PD deficiency in sisters of males with known total deficiency. The semiquantitative method only detected 32% (nine out of 28) of these cases. Conclusions A considerable amount of partially G6PD deficient female neonates (heterozygotes) are undetected and classified as having normal enzymatic activity using the semiquantitative method, which uses a cut off of 2.1 U/g haemoglobin (Hb). The use of a fully quantitative G6PD screening kit is proposed, employing the automated haemoglobin normalisation and a cut off of 6.4 U/g Hb. Any neonate with an activity below this mark should be regarded as G6PD deficient, and all preventive measures should be taken.

2020 ◽  
Author(s):  
Gobi Hariyanayagam ◽  
Sera Selvanthan Sundram Gunasekaran ◽  
Shargunan Selvanthan Gunasekaran ◽  
Nur Syafina Insyirah Zaimi ◽  
Nor Amirah Abdul Halim

BACKGROUND In late December 2019, an outbreak of a novel coronavirus disease (COVID-19; previously known as 2019-nCoV) was epidemiologically linked to seafood and wet animal market in Wuhan, Hubei, China. This event has instigated negative stigma among the general population to view the wet market as a high-risk location for potential transmission of coronavirus. OBJECTIVE This study investigated the prevalence of facemask use among general population visiting the wet market as well as factors contributing to unacceptable facemask practice. Setting The visitors to a district wet market selling range of live or freshly slaughtered animals during COVID-19 pandemic outbreak was observed for facemask practice. METHODS All Individuals visiting the market were observed for the type, category and practice of wearing facemas. Subjects were categorized into two groups of acceptable and unacceptable facemask practice. The Pearson chi-square was used to test for differences in investigated variables in the univariate setting and Binary Logistic regression model was used in the multivariate setting. Main outcome measure Prevalence, acceptance practice and odds ratio of unacceptance of facemask use. RESULTS Among 1697 individuals included in the final analysis, 1687 (99.7%) was observed wearing facemask with 1338 (78.8%) using medical-grade facemask. Among them, 1615 (95.7%) individuals facemask practice was acceptable while the reaming 72 (4.3%) individuals were observed with unacceptable facemask practice. Individuals using medical-grade facemask and high-risk age group are 6.4 times (OR=6.40; 95% CI, 2.00-20.43; p=.002) and 2.06 times practice (OR=2.06; 95% CI, 1.08-3.94; p=.028) more likely to have unacceptable facemask practice respectively. CONCLUSIONS High saturation of facemask among the general population is an adequate indicator of public hygiene measures strategy which can help to mitigate the COVID-19 epidemic impact. Alarmingly, the unacceptable facemask practice among high-risk population raises the need for a targeted approach by healthcare authorities to ensure satisfactory facemask use.


2019 ◽  
Vol 66 (2) ◽  
pp. 94-96
Author(s):  
Takahiro Goi ◽  
Yoshiki Shionoya ◽  
Katsuhisa Sunada ◽  
Kiminari Nakamura

We performed general anesthesia on a 3-year-old boy with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Patients with G6PD deficiency exhibit jaundice and anemia due to hemolysis caused by a lack of the G6PD enzyme. To maintain anesthesia, we used propofol and remifentanil, which may prevent hemolytic attacks by exerting an antioxidant effect. In addition, because the patient was in a high-risk group for the development of methemoglobinemia, we used mepivacaine as a local anesthetic. We liaised with the patient's attending physician to make sufficient arrangements, such as securing an emergency transfer on the day of anesthesia. The patient did not develop hemolytic attacks during or after the procedure, and he progressed well without problems.


2019 ◽  
Vol 24 (48) ◽  
Author(s):  
Anass Abbad ◽  
Ranawaka APM Perera ◽  
Latifa Anga ◽  
Abdellah Faouzi ◽  
Nhu Nguyen Tran Minh ◽  
...  

Background Middle East respiratory syndrome coronavirus (MERS-CoV) remains a major concern for global public health. Dromedaries are the source of human zoonotic infection. MERS-CoV is enzootic among dromedaries on the Arabian Peninsula, the Middle East and in Africa. Over 70% of infected dromedaries are found in Africa. However, all known zoonotic cases of MERS have occurred in the Arabian Peninsula with none being reported in Africa. Aim We aimed to investigate serological evidence of MERS-CoV infection in humans living in camel-herding areas in Morocco to provide insights on whether zoonotic transmission is taking place. Methods We carried out a cross sectional seroprevalence study from November 2017 through January 2018. We adapted a generic World Health Organization MERS-CoV questionnaire and protocol to assess demographic and risk factors of infection among a presumed high-risk population. ELISA, MERS-CoV spike pseudoparticle neutralisation tests (ppNT) and plaque neutralisation tests (PRNT) were used to assess MERS-CoV seropositivity. Results Serum samples were collected from camel slaughterhouse workers (n = 137), camel herders (n = 156) and individuals of the general population without occupational contact with camels but living in camel herding areas (n = 186). MERS-CoV neutralising antibodies with ≥ 90% reduction of plaque numbers were detected in two (1.5%) slaughterhouse workers, none of the camel herders and one individual from the general population (0.5%). Conclusions This study provides evidence of zoonotic transmission of MERS-CoV in Morocco in people who have direct or indirect exposure to dromedary camels.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Muhammad Shoaib Khan ◽  
Arif Ullah ◽  
Sami ul Haq ◽  
Mohammd Shoaib

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disease and it is a common enzymaticdisease of RBCs in humans X linked recessive condition are more common in males than females. The said deficiency leads toaffecting >400 million people worldwide Individuals, normally males, with deficient alleles are helpless to neonatal jaundice andintense hemolytic anemia, usually during disease, after treatment with specific medications or subsequent to eating Fava beans..Objective: To measure the frequency of Glucose-6-Phosphate-Dehydrogenase deficiency in general population at district Bannu,Khyber Pakhtunkhwa Pakistan.Material and Methods: This cross-sectional descriptive study was conducted on 500 human subjects, who were referred forG6PD assay, in Samad clinical Laboratory, District Bannu Khyber Pakhtunkhwa, Pakistan, from July 2018 to July 2019. 500ccvenous whole blood was collected in EDTA containing vial, for G6PD Test. (Span Diagnostic S.A.R.L, France). Patients of any Age,Sex & area having fever, hematuria, headache, visible jaundice, family history, malaria and anemia were included in this study,while patients suffering from renal disease, any malignancy & not willing persons were excluded.Results: Out of the total 500 hundred, 370 (74%) were males and females were 130 (26%). Total 64/500 (12.8 %) were G6PDdeficient, with 55 male and 09 were female. Malaria positive with G6PD deficiency were 13/64 (20.31%), with 12 males and onefemale. Statistically significant difference among each group (p= 0.0022) was noted. Mean age of the G6PD deficient persons was(2.8 ± 1.03) years. Anemia was graded as Hemoglobin less than 11.5g/dl was taken as anemia. Severe anemia as Hb < 7 g/dl,moderate anemia as Hb ranged between 7-10 g/dl and mild if Hb ranged between 10-11.5 g/dl.Among 370 males, 86 persons had hemoglobin of less than 11.5 g/dl, 42 had hemoglobin 7-10 g/dl and 7 patients had hemoglobinless than 7 g/dl, only 235 patients had hemoglobin more than 11.5, among 130 females, 33 patients had hemoglobin of less than11.5 g/dl, 17 patients had hemoglobin 7-10 g/dl and 05 patients had hemoglobin less than 7 g/dl, only 75 patients had hemoglobinmore than 11.5 g/dl.Conclusion: This study shows high frequency of G6PD Deficiency in district Bannu Khyber Pakhtunkhwa Pakistan especially veryhigh frequency in males than females.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
J Bruthans ◽  
O Mayer ◽  
R Cifkova

Abstract Introduction Despite better control of high blood pressure (BP) in the general as well as high cardiovascular (CV) risk populations as a factor contributing to the decrease in CV mortality since 1990, the targets set by the guidelines may not have been reached. Purpose We analysed longitudinal trends in BP control in the general and high risk populations, to assess implementation of guidelines and to identify subpopulations with still unsatisfactory BP control. Methods Analysis of seven independent surveys of the general population (Czech MONICA and post-MONICA studies, 1985–2017) and five independent surveys of patients with stable manifest coronary heart disease (CHD) 1995–2017 (Czech samples of the EUROASPIRE I-V surveys). Results A total of 15 000 persons (Czech MONICA) and 2 098 patients (Czech EUROASPIRE) were investigated. In the 1985–2017 period, mean systolic BP decreased in the general population (MONICA) from 134 to 128 mmHg (p&lt;0.001) and diastolic BP from 84 to 82.5 mmHg (p&lt;0.01), hypertensive levels of BP (&gt;140/90mmHg) were found in 45% in 1995 but only in 27.5% in 2017, and the prevalence of uncontrolled severe hypertension (BP&gt;180/110 mmHg) decreased from 3 to 1%. The proportion of properly controlled hypertension increased from 13.2 to 53% (p&lt;0.0001). In the 1995–2017 surveys of the high-risk population (EUROASPIRE) systolic BP decreased from 144.1 to 135.5 mmHg (p&lt;0.001), diastolic BP from 87.5to 83.5mmHg (p&lt;0.01), higher than recommended BP (&gt;140/90mmHg, &gt;140/85mmHg in diabetics) was found in 66.2% in 1995, still present as much as in 54.4% in 2017. Proportion of patients with very high BP (BP&gt;180/110 mmHg) decreased from 18.4 to 1% only. Drugs with a potentially antihypertensive effect were used in 79.9 and 95.3% of patients in 1995 and 2017, respectively (p&lt;0.0001). Population BP levels ceased to decline since 2000/01 survey, in the CHD population since the 2012/13 survey. This is obviously due to considerable increase in prevalence of obesity, and an increasing prevalence of diabetes, both in the general and high-risk populations. The more intensive medical high BP treatment seems to have a beneficial effect on hypertension control, even more in the general than in the high risk population. Conclusions The recent trend in BP levels, both in the general and high-risk populations, are far from satisfactory, with the main causative factor suggested to be the increasing prevalence of obesity and diabetes. While there has been progress in hypertension control, more in the general nad limited in high-risk population, truly effective BP control may be illusory without comprehensive CV risk factor control. FUNDunding Acknowledgement Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Agency for Medical Research, Ministry of Health of the Czech Republic


2021 ◽  
Vol 12 ◽  
Author(s):  
Xudong Wang ◽  
Zhongmin Xia ◽  
Ying He ◽  
Xiaoman Zhou ◽  
Haixia Zhang ◽  
...  

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic defect. The purpose of this study was to evaluate the profile of G6PD deficiency and investigate the factors associated with the accuracy of newborn screening (NBS) in Xiamen, China.Methods: A total of 99,546 newborns were screened by modified fluorescent spot test at the Women and Children’s Hospital, Xiamen University. High-risk neonates were recalled for diagnosis by either a measurement of G6PD activity or genetic testing for the presence of pathogenic G6PD variants using a quantitative G6PD enzymatic assay or the MeltPro® G6PD assay, respectively.Results: In the first-tier screening, 1,256 newborns were categorized as high risk. Of these, 1,051 were diagnosed with G6PD deficiency, indicating a prevalence of 1.39% in Xiamen, China. Among the 1,013 neonates who underwent genotyping, 851 carried hemizygous, heterozygous, homozygous, or compound heterozygous variants, for a positive predictive value (PPV) of 84.01%. In total, 12 variants and 32 genotypes were identified, and the six most common variants were c.1376G&gt;T, c.1388G&gt;A, c.95A&gt;G, c.1024C&gt;T, c.871G&gt;A, and c.392G&gt;T, which accounted for approximately 94% of the identified alleles. Different variants showed characteristic enzymatic activities, although high phenotypic heterogeneity was observed for each variant. The use of cold-chain transportation significantly improved the PPV of NBS.Conclusions: We determined the profile of G6PD deficiency in Xiamen, including the prevalence, variant spectrum, and genotype-phenotype correlations and confirmed that maintaining a low temperature during sample transport is essential to ensure the high screening accuracy of NBS. Our data provides epidemiological, genotypic, phenotypic, and clinical practice references to standardize future interventions for G6PD deficiency.


PLoS ONE ◽  
2021 ◽  
Vol 16 (10) ◽  
pp. e0258494
Author(s):  
Nipun Shrestha ◽  
Sanju Gautam ◽  
Shiva Raj Mishra ◽  
Salim S. Virani ◽  
Raja Ram Dhungana

Background Chronic kidney disease (CKD) is an emerging public health issue globally. The prevalence estimates on CKD in South Asia are however limited. This study aimed to examine the prevalence of CKD among the general and high-risk population in South Asia. Methods We conducted a systematic review and meta-analysis of population-level prevalence studies in South Asia (Afghanistan, Bangladesh, Bhutan, Maldives, Nepal, India, Pakistan, and Sri Lanka). Three databases namely PubMed, Scopus and Web of Science were systematically searched for published reports of kidney disease in South Asia up to 28 October 2020. A random-effect model for computing the pooled prevalence was used. Results Of the 8749 identified studies, a total of 24 studies were included in the review. The pooled prevalence of CKD among the general population was 14% (95% CI 11–18%), and 15% (95% CI 11–20%) among adult males and 13% (95% CI 10–17%) in adult females. The prevalence of CKD was 27% (95% CI 20–35%) in adults with hypertension, 31% (95% CI 22–41%) in adults with diabetes and 14% (95% CI 10–19%) in adults who were overweight/obese. We found substantial heterogeneity across the included studies in the pooled estimates for CKD prevalence in both general and high-risk populations. The prevalence of CKD of unknown origin in the endemic population was 8% (95% CI 3–16%). Conclusion Our study reaffirms the previous reports that CKD represents a serious public health challenge in South Asia, with the disease prevalent among 1 in 7 adults in South Asian countries.


Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
George Howard ◽  
Leslie A McClure ◽  
Claudia S Moy ◽  
Dawn O Kleindorfer ◽  
D. L Long ◽  
...  

Introduction: The ability to identify a stroke/TIA-free population at high risk for stroke is important for risk assessment in the general population, and also a critical step to make a primary stroke prevention trial feasible. The standard for risk stratification is the Framingham Stroke Risk Score (FSRS); however, its use requires a clinic visit for blood pressure and ECG assessment, and laboratory measurement of glucose levels. The feasibility of a primary prevention trial would be greatly enhanced by a brief interview, potentially conducted over the telephone or web, to identify a high-risk population. Methods: A general population sample consisting of 23,983 REGARDS participants aged 45+ who reported being stroke and TIA free at baseline was characterized on 11 self-reported characteristics: age, race, sex, self-reported diagnosis of medical conditions (hypertension, diabetes, atrial fibrillation, and myocardial infarction), smoking, previous stroke symptoms, self-reported general health, and education. Participants were followed for incident stroke, with associations assessed by proportional hazards. Results: Over an average follow-up of 8.2 years, 564 incident strokes occurred. The self-reported characteristics were strongly related to stroke risk (see table), and proved marginally more predictive of stroke risk (c-statistic = 0.7268; 95% CI: 0.7078 - 0.7459) than the FSRS (c-statistic = 0.7222; 95% CI: 0.7025 - 0.7419). The annual stroke risk was 1.4% (95% CI: 1.2 - 1.7) for those in the highest decile of the telephone risk score. The Spearman correlation between the FSRS and the REGARDS telephone risk score was 0.848 (95% CI: 0.844 - 0.851). Discussion: The REGARDS Telephone Stroke Risk Score can be calculated using data collected over the telephone, at a web site, or in person. It can identify a population at high risk for stroke as well as the FSRS clinic-based assessment can, making it an efficient stroke risk assessment tool.


2017 ◽  
Vol 20 (8) ◽  
pp. 1367-1371 ◽  
Author(s):  
Craig Gundersen ◽  
Emily E Engelhard ◽  
Amy S Crumbaugh ◽  
Hilary K Seligman

AbstractObjectiveTo facilitate the introduction of food insecurity screening into clinical settings, we examined the test performance of two-item screening questions for food insecurity against the US Department of Agriculture’s Core Food Security Module.DesignWe examined sensitivity, specificity and accuracy of various two-item combinations of questions assessing food insecurity in the general population and high-risk population subgroups.Setting2013 Current Population Survey December Supplement, a population-based US survey.SubjectsAll survey participants from the general population and high-risk subgroups.ResultsThe test characteristics of multiple two-item combinations of questions assessing food insecurity had adequate sensitivity (>97 %) and specificity (>70 %) for widespread adoption as clinical screening measures.ConclusionsWe recommend two specific items for clinical screening programmes based on their widespread current use and high sensitivity for detecting food insecurity. These items query how often the household ‘worried whether food would run out before we got money to buy more’ and how often ‘the food that we bought just didn’t last and we didn’t have money to get more’. The recommended items have sensitivity across high-risk population subgroups of ≥97 % and a specificity of ≥74 % for food insecurity.


2011 ◽  
Vol 18 (4) ◽  
pp. 425-431 ◽  
Author(s):  
John S Ng ◽  
Elisa M Edwards ◽  
Tosha A Egelund

Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome (TLS), a potential life-threatening oncologic emergency that occurs most commonly during chemotherapy for hematological malignancies. As a result of the defects in the physiological antioxidant pathway, erythrocytes of patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency are not protected against the oxidating stress exerted by hydrogen peroxide generated with the administration of rasburicase. Therefore, rasburicase is contraindicated in patients with known G6PD deficiency and the manufacturer recommends screening all patients with high risk for G6PD deficiency before initiating rasburicase therapy. However, it is logistically difficult in clinical settings because of the high risk of morbidity and mortality associated with TLS if treatment is delayed and the long turnaround time of the G6PD deficiency screening. Therefore, administering rasburicase to patients developing TLS before confirming a patient’s G6PD status is practically inevitable. Methemoglobinemia, and/or hemolysis, may result from the oxidative stress. Descriptions of the clinical course should it happen are limited in the literature. There are eight reported cases of rasburicase-related methemoglobinemia, with or without hemolytic anemia, in the literature of which five are pediatric patients. Six reports (including three pediatric patients) had detailed descriptions of the event and management. The recent reports of methemoglobinemia observed in patients with probable G6PD activity further complicated the picture. We are reporting a 16-year-old patient diagnosed with Burkitt’s lymphoma who developed methemoglobinemia after receiving one dose of rasburicase. He was managed by transfusion and oxygen support. The patient recovered well and the observed methemoglobinemia was reversible.


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