scholarly journals Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants

2019 ◽  
Vol 5 (4) ◽  
pp. 38
Author(s):  
Ohlsson ◽  
Rehnholm ◽  
Shubham ◽  
Döbeln
Keyword(s):  
Sanger Sequencing ◽  
Birth Rate ◽  
Dehydrogenase Deficiency ◽  
Newborn Infants ◽  
Common Disease ◽  
Total Birth ◽  
Total Birth Rate ◽  
The Mean ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Blood Spot

Sweden has 10.2 million inhabitants and more than 2.4 million have a foreign background. A substantial number of immigrants come from countries where glucose-6-phosphate dehydrogenase deficiency (G6PDD) is frequent. The total birth rate annually in Sweden is approximately 117,000 and newborn screening is centralized to one laboratory. We determined glucose-6-phosphate dehydrogenase (G6PD) activity in 10,098 dried blood spot samples (DBS) from the whole country with a fluorometric assay (LabSystems Diagnostics Oy, Finland). The first 5451 samples were anonymised and run as singletons, whilst the following 4647 samples were coded. Enzyme activity ≤40% of the mean of the day was found in 58 samples (1/170) and among these, 29 had activities ≤10% (1/350). Twenty-nine samples with residual activities between 2–39% in the coded cohort were subjected to Sanger sequencing. Disease-causing variants were identified in 26 out of 29 infants, of which six were girls. In three patients, we did not find any disease-causing variants, although two patients were hemizygous for the known polymorphisms c.1311T>C and c.1365-13C>T. The most common disease-causing variant found in 15 of the 29 samples (12 hemizygotes, two heterozygotes, one homozygote) was the Mediterranean mutation, c.563C>T (p.(Ser188Phe)) in exon 6. G6PDD is thus a surprisingly prevalent disorder in Sweden.

Glucose-6-Phosphate Dehydrogenase Deficiency in Newborn Infants of Eastern Saudi Arabia

1988 ◽  
Vol 8 (5) ◽  
pp. 356-358 ◽  
Author(s):  
Wijesundara A.E.P. Ranasinghe ◽  
Engracia C. Sitchon ◽  
Abdul S. Malik
Keyword(s):  
Saudi Arabia ◽  
Dehydrogenase Deficiency ◽  
Newborn Infants ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals The Pulsar Birth Rate from the Parkes Multibeam Survey

2004 ◽  
Vol 218 ◽  
pp. 121-122
Author(s):  
N. Vranesevic
Keyword(s):  
Magnetic Field ◽  
Magnetic Fields ◽  
Field Strength ◽  
Birth Rate ◽  
Selection Effects ◽  
Total Birth ◽  
Current Accounting ◽  
Dipole Magnetic Field ◽  
Total Birth Rate ◽  
Surface Dipole

We report on calculations of the pulsar birth rate based on the results of the Parkes multibeam survey. Prom the observed sample of more than 800 pulsars, we compute the pulsar current, accounting as accurately as possible for all known selection effects. The main goal of this work is to understand the pulsar birth rate as a function of the surface dipole magnetic field strength. We show that pulsars with magnetic fields greater than 1012.5 G account for about half of the total birth rate.

scholarly journals Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: sex distribution.

1994 ◽  
Vol 71 (1) ◽  
pp. F59-F60 ◽  
Author(s):  
M Kaplan ◽  
C Hammerman ◽  
R Kvit ◽  
B Rudensky ◽  
A Abramov
Keyword(s):  
High Risk ◽  
Ethnic Group ◽  
Neonatal Screening ◽  
Dehydrogenase Deficiency ◽  
Newborn Infants ◽  
Low Risk ◽  
Sex Distribution ◽  
Paternal Origin ◽  
Enzyme Deficient ◽  
Glucose 6 Phosphate Dehydrogenase

Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.

Clinical Manifestations and Therapeutic Findings of the Children with Glucose-6-Phosphate Dehydrogenase Deficiency Presenting Favism

2020 ◽  
Vol 20 ◽  
Author(s):  
Fariba Tarhani ◽  
Alireza Nezami ◽  
Ghobad Heidari ◽  
Babak Abdolkarimi
Keyword(s):  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Clinical Manifestations ◽  
Descriptive Study ◽  
Cross Sectional ◽  
Common Complaint ◽  
The Mean ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Hydration Therapy

Aim: Favism is characterized as acute anemia, due to Glucose-6-phosphate dehydrogenase (G6PD) deficiency as a result of fava beans intake. It is associated with paleness, jaundice, and hemoglobinuria. In this study, signs, symptoms and therapeutic findings of the patients with hemolysis due to G6PD deficiency were investigated in Shahid Madani Hospital of Khorramabad, Lorestan. Methods: This is a single-center cross-sectional descriptive study that was conducted on all children with G6PD deficiencyinduced hemolysis. Results: 308 children (64.3% male and 35.7% female) were included in this study. The most common complaint was jaundice (82.5%) and the most common cause of hemolysis was the intake of fava bean (85.7%). 68% of the children were treated with hydration/fluid therapy. Blood transfusion was conducted in 36.36% of the cases and the mean of blood administered was 18.9 cc/kg. Conclusion: In this study, hydration therapy was performed in most of the children presenting favism. Also, the incorrect calculation of the amount of blood needed for transfusion has increased the frequency of blood transfusions and prolonged hospitalization time.

scholarly journals FREQUENCY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN NEONATAL JAUNDICE IN DISTRICT SWAT, PAKISTAN

1969 ◽  
Vol 3 (1) ◽  
pp. 242-247
Author(s):  
AMREEK LAL ◽  
S.M.NAEEM ◽  
SHAHJEHAN ◽  
ASHFAQ AHMAD ◽  
ISRARUL HAQ
Keyword(s):  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Dehydrogenase Deficiency ◽  
Reduction Method ◽  
Serum Bilirubin ◽  
Newborn Infants ◽  
Dye Reduction ◽  
Complete Blood Counts ◽  
Deficiency Screening ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Hyperbilirubinemia is the most common cause of neonatal jaundice. Severe neonatalhyperbilirubinemia and kemicterus continue to be reported worldwide in otherwise healthy term infants.We conducted this study to estimate the incidence of severe neonatal hyperbilirubinemia and to determineunderlying causes, improved knowledge of which would be valuable to help identify strategies for riskreduction.Methods: 100 infants of both sexes, of the age between 1-28 days, with no infection and Rh incompatibilitywere included in the study. The activity of G6PD was determined by a dye-reduction method screening testdevised by Sigma Diagnostics USA. Complete blood counts (CBC) with reticulocyte count, serum bilirubin(total and indirect) were performed and the results were recorded for further analyses.Results: Out of the total 100 subjects, classified in two groups on the basis of presence of jaundice, 14 (14%)were G6PD deficient. The frequency of G6PD deficiency was markedly prominent, in neonates withjaundice.Discussion: G6PD deficiency is one of the major causes of jaundice in neonates. The study area also have aconsiderable number of G6PD deficient individuals. This indicates a need for a more thorough assessmentof newborn infants and consideration of strategies to identify at-risk newborns, such as pre-dischargemeasurement of serum bilirubin levels and G6PD deficiency screening.

scholarly journals 3.3. ANALYSIS OF FACTORS OF FERTILITY OF POPULATION IN THE REGIONS OF THE RUSSIAN FEDERATION BY THE MODEL OF MODELING

2021 ◽  
pp. 48-55
Author(s):  
А.Б. Берендеева ◽  
О.В. Сизова
Keyword(s):  
Russian Federation ◽  
Birth Rate ◽  
Economic Factors ◽  
Russian Regions ◽  
Total Birth ◽  
Total Birth Rate ◽  
Main Tendency ◽  
The Russian Federation ◽  
The Impact ◽  
Socio Economic Factors

Рассмотрена динамика суммарного коэффициента рождаемости в Российской Федерации и факторы рождаемости. Выделено пять групп регионов РФ по уровню суммарного коэффициента рождаемости. На примере пяти регионов-лидеров и пяти регионов-антилидеров проанализировано воздействие на по-казатель рождаемости девяти социально-экономических факторов. Рассмотрена динамика ко-эффициента рождаемости и выявлена основная тен-денция изменения данного показателя. С помощью корреляционно-регрессионного анализа выявлены факторы, оказывающие определяющее воздействие на рождаемость в РФ. Выделены группы факторов по степени влияния на рождаемость населения. The dynamics of the total fertility rate in Russia and fertility factors are considered. Five groups of Russian regions were identified by the level of the total birth rate. Using the example of 5 leading regions and 5 anti-leader regions, we analyzed the impact on the birth rate of 9 socio-economic factors. The dynamics of the birth rate is examined and the main tendency for this indicator to change. Using correlation and re-gression analysis, factors were identified that have a decisive effect on fertility in Russia. Groups of factors are identified by the degree of influence on the birth rate of the population.

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