Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening

2021 ◽  
Vol 59 (1) ◽  
pp. 209-216
Author(s):  
Bichr Allaf ◽  
Corinne Pondarre ◽  
Slimane Allali ◽  
Mariane De Montalembert ◽  
Cécile Arnaud ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Public Health Problem ◽  
Cell Disease ◽  
Newborn Period ◽  
Confirmatory Tests ◽  
Patients At Risk ◽  
Thalassemia Trait ◽  
Optimum Threshold ◽  
Thalassemia Screening

AbstractObjectivesNewborn screening (NBS) for β-thalassemia is based on measuring the expression of the hemoglobin A (HbA) fraction. An absence or very low level of HbA at birth may indicate β-thalassemia. The difficulty is that the HbA fraction at birth is correlated with gestational age (GA) and highly variable between individuals. We used HbA expressed in multiples of the normal (MoM) to evaluate relevant thresholds for NBS of β-thalassemia.MethodsThe chosen threshold (HbA≤0.25 MoM) was prospectively applied for 32 months in our regional NBS program for sickle cell disease, for all tests performed, to identify patients at risk of β-thalassemia. Reliability of this threshold was evaluated at the end of the study.ResultsIn all, 343,036 newborns were tested, and 84 suspected cases of β-thalassemia were detected by applying the threshold of HbA≤0.25 MoM. Among the n=64 cases with confirmatory tests, 14 were confirmed using molecular analysis as β-thalassemia diseases, 37 were confirmed as β-thalassemia trait and 13 were false-positive. Determination of the optimum threshold for β-thalassemia screening showed that HbA≤0.16 MoM had a sensitivity of 100% and a specificity of 95.3%, whatever the GA.ConclusionsNBS for β-thalassemia diseases is effective, regardless of the birth term, using the single robust threshold of HbA≤0.16 MoM. A higher threshold would also allow screening for carriers, which could be interesting when β-thalassemia constitutes a public health problem.

scholarly journals Newborn Screening for Sickle Cell Disease: Indian Experience

2018 ◽  
Vol 4 (4) ◽  
pp. 31 ◽  
Author(s):  
Roshan Colah ◽  
Pallavi Mehta ◽  
Malay Mukherjee
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

scholarly journals Evaluation of four different HPLC devices for hemoglobinopathy screening

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Müjgan Ercan Karadağ ◽  
Emiş Deniz Akbulut ◽  
Esin Avcı ◽  
Esra Fırat Oğuz ◽  
Saadet Kader ◽  
...  
Keyword(s):  
Gold Standard ◽  
High Performance ◽  
Public Health Problem ◽  
Reference Value ◽  
Comparison Study ◽  
Gold Standard Method ◽  
Blood Samples ◽  
Systematic Biases ◽  
Hemoglobin Variants ◽  
Thalassemia Screening

AbstractObjectiveHemoglobinopathies are a common public health problem in Turkey. In the screening of these disorders in population, cation-exchange high performance liquid chromatography (HPLC) is accepted as the gold standard method. In this study, the aim was to assess four different HPLC devices used in hemoglobinopathy screening.Materials and methodsA total of 58 blood samples were analyzed with four different HPLC methods (Bio-Rad variant II, Agilent 1100, Tosoh G8 and Trinity Ultra2 trademarks).ResultsThe comparison study demonstrated a good correlation between the results of each HPLC analyzer and the reference value obtained by averaging all the HbA2 results belonging to the methods tested in the study [ (Tosoh G8 (r=0.988), Bio-Rad variant II (r=0.993), Agilent 1100 (r=0.98) and Trinity Ultra2 (r=0.992) ]. HbA2 determination in the presence of HbE was interfered in both Bio-Rad variant II and Tosoh G8.ConclusionThe analyzers were found to have compatible HbA2 results but with accompanying different degrees of proportional and systematic biases. HPLC analyzers may be affected by different hemoglobin variants at different HbA2 concentrations, which is an important point to take into consideration during the evaluation of HbA2 results in thalassemia screening.

Evaluation of methods for detection of β-lactamase production in MSSA

2021 ◽  
Author(s):  
Robert Skov ◽  
David R Lonsway ◽  
Jesper Larsen ◽  
Anders Rhod Larsen ◽  
Jurgita Samulioniené ◽  
...  
Keyword(s):  
Susceptibility Testing ◽  
Confirmatory Test ◽  
Disc Diffusion ◽  
Broth Microdilution ◽  
Confirmatory Tests ◽  
Correct Determination ◽  
Primary Test ◽  
Zone Edge ◽  
Evaluation Of Methods

Abstract Objectives Correct determination of penicillin susceptibility is pivotal for using penicillin in the treatment of Staphylococcus aureus infections. This study examines the performance of MIC determination, disc diffusion and a range of confirmatory tests for detection of penicillin susceptibility in S. aureus. Methods A total of 286 consecutive penicillin-susceptible S. aureus blood culture isolates as well as a challenge set of 62 MSSA isolates were investigated for the presence of the blaZ gene by PCR and subjected to penicillin-susceptibility testing using broth microdilution MIC determination, disc diffusion including reading of the zone edge, two nitrocefin tests and the cloverleaf test. Results Using PCR-based detection of blaZ as the gold standard, both broth microdilution MIC testing and disc diffusion testing resulted in a relatively low accuracy (82%–93%) with a sensitivity ranging from 49%–93%. Among the confirmatory tests, the cloverleaf test performed with 100% accuracy, while zone edge interpretation and nitrocefin-based tests increased the sensitivity of β-lactamase detection to 96%–98% and 82%–96% when using MIC determination or disc diffusion as primary test, respectively. Conclusions This investigation showed that reliable and accurate detection of β-lactamase production in S. aureus can be obtained by MIC determination or penicillin disc diffusion followed by interpretation of the zone edge as a confirmatory test for apparently penicillin-susceptible isolates. The more cumbersome cloverleaf test can also be used. Nitrocefin-based tests should not be used as the only test for confirmation of a presumptive β-lactamase-negative isolate.

Relationship between levels of salivary cortisol with depression and suicidal ideation

2011 ◽  
Vol 26 (S2) ◽  
pp. 1631-1631 ◽  
Author(s):  
P. De Usabel Guzmán ◽  
M.J. Mota Rodríguez ◽  
A. Pampin Alfonso ◽  
J.B. Brenlla Gonzalez ◽  
M.J. Núñez ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Salivary Cortisol ◽  
Public Health Problem ◽  
Demographic Variables ◽  
Major Public Health Problem ◽  
Santiago De Compostela ◽  
High Prevalence ◽  
Cortisol Levels ◽  
The Relationship

IntroductionSuicide is a major public health problem in most of the countries because it has a high prevalence in young people. It has been studied that high levels of cortisol are associated with depression and increase of the suicidal risk.ObjectiveTo analyze the relationship between cortisol levels in a population of university students and the questionnaire results for the Beck Depression Inventory (BDI).MethodThe sample was composed by 106 students of the Nursing School of Santiago de Compostela University. The 88.7% of the sample are women with a mean age of 21.50 + /−2.52, the 99% are unmarried. The protocol consisted in 3 sections: demographic variables, BDI questionnaire with spanish scale and determination of salivary cortisol levels. Statistical analysis was done with SPSS 15.ResultsThe are higher levels of salivary cortisol in students with a greater or equal score to 13 on the BDI with statistically significances differences (p = .000). Students with suicidal ideation (item 9 of the BDI) have highest rates of cortisol, with statistically significant differences (p = 0.001).ConclusionsThis study supports other researchs about the association between biological neuroendocrine markers and affective disorders. Explaining suicidal behavior could help us to prevent it by using early intervention strategies for vulnerable populations. They could also identify markers to establish the risk of suicide.

Determination of Blood Sugar in Newborn Infants

PEDIATRICS ◽  
1961 ◽  
Vol 28 (5) ◽  
pp. 850-851
Author(s):  
GLORIA S. BAENS ◽  
WILLIAM OH ◽  
EVELYN LUNDEEN ◽  
MARVIN CORNBLATH
Keyword(s):  
Blood Sugar ◽  
Newborn Infants ◽  
Newborn Period ◽  
Claude Bernard

To the Editor: Recently, there has been a renewed interest in the level of blood sugar in the newborn period, with very low or zero blood sugars being reported1, 2 In some of these reports there is no mention of how the blood was collected, how long it was permitted to stand, how it was precipitated, or analyzed. As reviewed by Peters and Van Slyke,3 the disappearance of sugar from blood in vitro has been well documented since the time of Claude Bernard.

ACTIVITY OF GLUTAMIC-OXALOACETIC TRANSAMINASE IN THE SERUM IN THE NEONATAL PERIOD

PEDIATRICS ◽  
1957 ◽  
Vol 20 (4) ◽  
pp. 584-589
Author(s):  
Simon Kove ◽  
Stanley Goldstein ◽  
Felix Wróblewski
Keyword(s):  
Neonatal Period ◽  
Newborn Infants ◽  
Normal Range ◽  
Glutamic Oxaloacetic Transaminase ◽  
Newborn Period ◽  
Method Of Determination ◽  
Normal Term ◽  
Pathologic State ◽  
Normal Adults

The activity of glutamic oxaloacetic transaminase (GOT) in the serum was determined by the spectrophotometric method in 63 normal term newborn infants, varying from birth to 11 days of age. The normal range of activity in the newborn period varied from 13 to 105 units (with the exception of one infant in whom the level was 160 units). This is a considerably wider range than that of 5 to 45 units found in normal adults. Allowing for an error of about ±10% inherent in the method of determination of GOT, activity as great as approximately 120 units, which in adults would be indicative of some pathologic state, must be considered physiologic in the newborn infant. The activity of GOT was not related to the age of the infant within the neonatal period studied, and varied widely in different infants for each day of age, without any distinctive pattern. Variations of the activity of GOT in specimens of cord blood studied ranged below 59 units, which was lower than for any other day of the neonatal period adequately investigated. No infants were studied repeatedly. No relation was found between the concentration of bilirubin and the activity of GOT in the serum.

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

2013 ◽  
Vol 419 ◽  
pp. 73-76 ◽  
Author(s):  
Wei-Lien Chuang ◽  
Josh Pacheco ◽  
X. Kate Zhang ◽  
Monica M. Martin ◽  
Chad K. Biski ◽  
...  
Keyword(s):  
At Risk ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Krabbe Disease ◽  
Blood Spots
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