Incidence of congenital toxoplasmosis estimated by neonatal screening: relevance of diagnostic confirmation in asymptomatic newborn infants

Congenital toxoplasmosis is rarely identified by routine clinical examination. The aim of this study was to estimate the incidence of the disease in the region of Ribeirão Preto, south-eastern Brazil. A definitive diagnosis was made on the basis of the persistence of anti-Toxoplasma IgG antibodies beyond 1 year of age. Blood samples obtained from 15162 neonates and adsorbed onto filter paper were tested for anti-Toxoplasma IgM antibodies. Fifteen samples gave positive results. A definitive diagnosis was confirmed in five of the 13 infants (38·5%) who completed follow-up. These five infants presented with serum IgM and/or IgA antibodies, and clinical abnormalities. Disease incidence was estimated to be 3·3/10000 (95% CI 1·0–7·7), indicating the need for preventive measures. Neonatal screening is feasible, but screening tests with a better performance are required; positive screening results must be carefully confirmed.

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CRC Screening Results: Patient Comprehension and Follow-up

Cancer Control ◽

10.1177/1073274819825828 ◽

2019 ◽

Vol 26 (1) ◽

pp. 107327481982582

Author(s):

Revital Azulay ◽

Liora Valinsky ◽

Fabienne Hershkowitz ◽

Racheli Magnezi

Keyword(s):

Medical Information ◽

Economic Status ◽

Occult Blood ◽

Screening Tests ◽

Fecal Occult Blood ◽

Fecal Occult ◽

Patient Comprehension ◽

Immunochemical Test ◽

Positive Results

Background: Fecal occult blood tests are recommended for colorectal cancer screening, but are only effective if colonoscopy follows positive results. Patients with positive results often do not complete follow-up. This study examined the association between patient comprehension and adherence to colonoscopy after positive FIT (Fecal Immunochemical Test). Methods: Five hundred twenty-two patients completed a telephone questionnaire regarding the FIT and its implications 120 days after a positive result. Patients were asked whether they had the test, received the results, and required follow-up. These questions were used to identify the degree to which patients understood medical information. A participant who answered “no” to any question was defined as having “low comprehension” regarding the FIT, and participants who answered “yes” to all 3 questions, as having “high comprehension”. Results: Comprehension and colonoscopy adherence were significantly associated. Adherence to colonoscopy was significantly higher among participants with high comprehension, after adjusting for gender, age, education, ethnicity, and socio-economic status. Conclusions: This study demonstrates a link between health comprehension and patient follow-up after positive FIT and contributes to understanding the implications of health comprehension in terms of health promotion. We recommend patients undergoing screening tests receive clear explanations regarding need for follow-up of positive results thus reducing health disparities associated with health comprehension.

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EDTA in Dried Blood Spots Leads to False Results in Neonatal Endocrinologic Screening

Clinical Chemistry ◽

10.1373/clinchem.2007.096685 ◽

2008 ◽

Vol 54 (3) ◽

pp. 602-605 ◽

Cited By ~ 13

Author(s):

Ute Holtkamp ◽

Jeanette Klein ◽

Johannes Sander ◽

Michael Peter ◽

Nils Janzen ◽

...

Keyword(s):

Newborn Screening ◽

False Positive ◽

Neonatal Screening ◽

False Negative ◽

Dried Blood Spots ◽

Screening Tests ◽

Blood Collection ◽

Blood Spots ◽

Sampling Procedures ◽

Positive Results

Abstract Background: Blood samples for neonatal screening for inborn errors of metabolism are collected and shipped on standardized filter paper cards. Occasionally these samples are contaminated with EDTA, which is often used for anticoagulation. EDTA may interfere with newborn screening tests based on lanthanide fluorescence and thus lead to false-negative or false-positive results. Methods: We used tandem mass spectrometry (MS/MS) to detect EDTA in dried blood spots by use of an extra experiment that was integrated into the standard MS/MS neonatal screening and did not require an additional sample spot, nor extra time or work. We analyzed the influence of different blood sampling procedures on lanthanide fluorescence tests for thyroid-stimulating hormone (TSH) and 17-hydroxyprogesterone (17-OHP). Results: EDTA was increased in 138 of 190 000 newborn screening samples, 27 of which caused false- positive results in the immunoassay for 17-OHP. No false-negative TSH results were found. False-positive results in the 17-OHP test occurred when EDTA concentrations were >2.0 g/L; the TSH test, however, produced false negatives only when EDTA concentrations were >3.0 g/L. Using EDTA-containing devices the procedure of blood collection significantly influenced the concentration of the anticoagulant. Conclusion: Addition of EDTA quantification into standard MS/MS tests is a simple and useful method to avoid false-positive or false-negative neonatal screening results in lanthanide fluorescence–based tests.

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Recommended Guidelines for Screening Programs for Hyperphenylalaninemia in Newborn Infants

PEDIATRICS ◽

10.1542/peds.60.3.396 ◽

1977 ◽

Vol 60 (3) ◽

pp. 396-404

Keyword(s):

Neonatal Screening ◽

Newborn Infants ◽

Screening Tests ◽

Health Departments ◽

New Developments ◽

Screening Programs ◽

Department Of Health ◽

Screening Services ◽

Recommended Guidelines ◽

The U.S

In 1966 the U.S. Department of Health, Education, and Welfare issued Recommended Guidelines for PKU Programs for the Newborn1 to assist health departments and others in establishing screening services. Programs now function in most states, and it would be pointless to reiterate the information conveyed ten years ago. However, there are problems that must be addressed, particularly in light of new possibilities: 1. PKU screening is often of less than optimal (and attainable) effectiveness. 2. Parents are poorly informed about screening, the use of specimens, and results. 3. Neonatal screening tests for other conditions are available, but the question arises of when they should be used on a population-wide basis. New developments related to these areas are reviewed in the first part of this report. Recommendations are presented in the second part. This document is intended primarily for those involved in the organization and regulation of screening as a service (Fig. 1). As the objective "is to find affected subjects at a time when intervention may prevent the ill effects of the disease," responsibility includes assuring that efficacious therapy will be effectively provided. Procedures involved in the diagnosis and management of PKU that will be of interest to those providing care to infants with presumptive positive screening tests are dealt with in other publications.2,3 NEW DEVELOPMENTS PKU Prognosis. There can no longer be any doubt that the early institution of a diet low in phenylalanine is efficacious in preventing retardation from PKU. The IQ (mean ± SD) at 4 years of age in 111 children with PKU identified as a result of neonatal screening was 93 ± 16.4.4

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Macrolide-Resistant and Macrolide-Sensitive Mycoplasma pneumoniae Pneumonia in Children Treated Using Early Corticosteroids

Journal of Clinical Medicine ◽

10.3390/jcm10061309 ◽

2021 ◽

Vol 10 (6) ◽

pp. 1309

Author(s):

Hye Young Han ◽

Ki Cheol Park ◽

Eun-Ae Yang ◽

Kyung-Yil Lee

Keyword(s):

Mycoplasma Pneumoniae ◽

Serological Test ◽

Corticosteroid Treatment ◽

23S Rrna ◽

Laboratory Parameters ◽

The Mean ◽

Domain V ◽

Positive Results ◽

Mycoplasma Pneumoniae Pneumonia

We have found that early corticosteroid therapy was effective for reducing morbidity during five Korea-wide epidemics. We evaluated the clinical and laboratory parameters of 56 children who received early corticosteroid treatment for pneumonia that was caused by macrolide-resistant Mycoplasma pneumoniae (M. pneumoniae) or macrolide-sensitive M. pneumoniae between July 2019 and February 2020. All subjects had dual positive results from a PCR assay and serological test, and received corticosteroids within 24–36 h after admission. Point mutation of residues 2063, 2064, and 2067 was identified in domain V of 23S rRNA. The mean age was 6.8 years and the male:female ratio was 1.2:1 (31:25 patients). Most of the subjects had macrolide-resistant M. pneumoniae (73%), and all mutated strains had the A2063G transition. No significant differences in clinical and laboratory parameters were observed between macrolide-resistant and macrolide-sensitive M. pneumoniae groups that were treated with early dose-adjusted corticosteroids. Higher-dose steroid treatment may be needed for patients who have fever that persists for >48 h or increased biomarkers such as lactate dehydrogenase concentration at follow-up despite a usual dose of steroid therapy.

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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01846-w ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Xin Wang ◽

Yanyun Wang ◽

Dingyuan Ma ◽

Zhilei Zhang ◽

Yahong Li ◽

...

Keyword(s):

Neonatal Screening ◽

Phenylalanine Hydroxylase ◽

Laboratory Data ◽

Molecular Characteristics ◽

Phenotype Correlation ◽

Common Amino Acid ◽

Appropriate Treatment ◽

Clinical Presentations ◽

Average Current

Abstract Background Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the development of symptoms is possible via neonatal screening, facilitating appropriate treatment and reducing mortality and disability rates. This study revealed the prevalence, mutational and phenotypic spectrum, and prognosis of HPA by neonatal screening from January 2001 to September 2020 in Nanjing, Jiangsu Province, China. Methods Through a retrospective analysis of the information available in the neonatal screening database, the clinical presentations, laboratory data, molecular characteristics and treatment follow-up data of HPA patients detected by neonatal screening were evaluated. Results We diagnosed 181 patients with HPA from 1 to 957 newborns, giving an incidence of 1:6873. Among these patients, 177 were identified as PAH deficient and four patients were BH4 deficient. The average current age of the patients was 6.38 years old. The most common mutations of PAH were c.728 C > A/ p.Arg243Gln (13.83 %), c.158G > A/ p.Arg53His (9.57 %), c.611 A > G/ p.Tyr204Cys (7.44 %), and c.721 C > T/ p.Arg241Cys (6.38 %). Conclusions This study revealed the prevalence, phenotype-genotype, and prognosis of HPA in China and contributes to the updating of PAHD data for China and worldwide. Our study not only expanded the spectrum of phenotypes and genotype but also provided a valuable tool for improved genetic counseling and management of future cases.

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Exposure to paternal tobacco smoking increased child hospitalization for lower respiratory infections but not for other diseases in Vietnam

Scientific Reports ◽

10.1038/srep45481 ◽

2017 ◽

Vol 7 (1) ◽

Cited By ~ 6

Author(s):

Reiko Miyahara ◽

Kensuke Takahashi ◽

Nguyen Thi Hien Anh ◽

Vu Dinh Thiem ◽

Motoi Suzuki ◽

...

Keyword(s):

Risk Factor ◽

Tobacco Smoking ◽

Respiratory Infections ◽

Disease Incidence ◽

Population Attributable Fraction ◽

Birth Cohort Study ◽

Effective Interventions ◽

Paternal Smoking ◽

Observation Period

Abstract Exposure to environmental tobacco smoke (ETS) is an important modifiable risk factor for child hospitalization, although its contribution is not well documented in countries where ETS due to maternal tobacco smoking is negligible. We conducted a birth cohort study of 1999 neonates between May 2009 and May 2010 in Nha Trang, Vietnam, to evaluate paternal tobacco smoking as a risk factor for infectious and non-infectious diseases. Hospitalizations during a 24-month observation period were identified using hospital records. The effect of paternal exposure during pregnancy and infancy on infectious disease incidence was evaluated using Poisson regression models. In total, 35.6% of 1624 children who attended follow-up visits required at least one hospitalization by 2 years of age, and the most common reason for hospitalization was lower respiratory tract infection (LRTI). Paternal tobacco smoking independently increased the risk of LRTI 1.76-fold (95% CI: 1.24–2.51) after adjusting for possible confounders but was not associated with any other cause of hospitalization. The population attributable fraction indicated that effective interventions to prevent paternal smoking in the presence of children would reduce LRTI-related hospitalizations by 14.8% in this epidemiological setting.

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Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant

International Journal of Neonatal Screening ◽

10.3390/ijns7030035 ◽

2021 ◽

Vol 7 (3) ◽

pp. 35

Author(s):

Go Tajima ◽

Reiko Kagawa ◽

Fumiaki Sakura ◽

Akari Nakamura-Utsunomiya ◽

Keiichi Hara ◽

...

Keyword(s):

Neonatal Screening ◽

Acid Metabolism ◽

Neonatal Period ◽

Propionic Acidemia ◽

Cardiac Complications ◽

Mild Disease ◽

Follow Up Study ◽

Organic Acid Metabolism ◽

High Incidence

Propionic acidemia (PA) is a disorder of organic acid metabolism which typically presents with acute encephalopathy-like symptoms associated with metabolic acidosis and hyperammonemia during the neonatal period. The estimated incidence of symptomatic PA in Japan is 1/400,000. The introduction of neonatal screening using tandem mass spectrometry has revealed a far higher disease frequency of approximately 1/45,000 live births due to a prevalent variant of c.1304T>C (p.Y435C) in PCCB, which codes β-subunit of propionyl-CoA carboxylase. Our questionnaire-based follow-up study reveals that most of these patients remain asymptomatic. However, reports on symptomatic patients exhibiting cardiac complications such as cardiomyopathy and QT prolongation have been increasing. Moreover, there were even cases in which these cardiac complications were the only symptoms related to PA. A currently ongoing study is investigating the risk of cardiac complications in patients with neonatal screening-detected PA caused by this common variant.

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O21 The incidence of COVID-19 among children with rheumatic diseases receiving biological agents

Rheumatology ◽

10.1093/rheumatology/keab246.020 ◽

2021 ◽

Vol 60 (Supplement_1) ◽

Author(s):

Nadezhda Tsurikova ◽

Elena Ligostaeva ◽

Vadim Avdeenko ◽

Nataliya Kobzeva ◽

Irina Tsiganok ◽

...

Keyword(s):

Rheumatic Diseases ◽

Lupus Erythematosus ◽

Biological Agents ◽

Tnf Receptor ◽

The Past ◽

Different Types ◽

Mediterranean Fever ◽

Positive Results ◽

Single Center Observational Study

Abstract Background/Aims During the COVID-19 pandemic, analysis of the incidence of COVID-19 among patients suffering from rheumatic diseases and receiving therapy with biological agents remains relevant. Methods This single-center observational study included 118 children suffering from various rheumatic diseases and receiving therapy with anti-rheumatic drugs and biological agents. In this research, we analyzed the incidence of CIVID-19 and the frequency of documented contact with SARS-CoV-2 in the period from 01.03.2020 to 11.10.2020 (32 weeks). The results were analyzed using descriptive statistics. Results Among 118 children, there were 28 (24%) boys and 90 (76%) girls, average age 10.3±4.2. 104 (88.2%) patients had different types of juvenile idiopathic arthritis (JIA), 2 (1.6%) children had systemic lupus erythematosus (SLE), 2 (1.6%) patients had juvenile dermatomyositis (JDM), 1 (1%) child had ANCA-associated vasculitis, 6 (5%) patients had familial Mediterranean fever (FMF), 2 (1.6%) children had deficiency of adenosine deaminase 2 (DADA2), 1 (1%) child had TNF receptor-associated periodic syndrome (TRAPS). In this group of patients 94 (79%) patients were treated with methotrexate, 1 (1%) - azathioprine, 3 (2%) patients received hydroxychloroquine, 6(5%) - mycophenolate mofetil, 4 (3%) - sulfasalazine, 14(11%) children received prednisone, 6(5%) - cyclosporine A. All children included in this study received biological agents for more than 1 year, the distribution of biological agents among patients was as follows: 41(34%) - etanercept, 33(28%) - adalimumab, 24 (20%) - tocilizumab, 7 (6%) - canakinumab, 3 (2%) - abatacept, 4 (3%) - golimumab, 6 (5%) - rituximab. Out of 118 children, 4 (3%) patients had flu-like symptoms and positive results of PCR tests for COVID-19 (1 patient was treated with etanercept, 1 - adalimumab, 1 - tocilizumab, 1 - rituximab), none of the patients had signs of SARS-CoV-2 pneumonia. 10 (8%) patients had documented contact with COVID-19: among this patients 2 children had flu-like symptoms, positive results of PCR tests and absence of COVID-19 pneumonia (one of this patient was treated with adalimumab, another one - with rituximab), one more patient was treated with tocilizumab and had positive PCR test without any symptoms of COVID-19; other 7 children had negative PCR tests and didn’t have any signs of COVID-19. Conclusion Among our patients with various rheumatic diseases treated with biological agents there were no registered severe cases of COVID-19. Over the past period (32 weeks of follow-up) 3% of children with COVID-19 were identified and 8% patients had documented contact with COVID-19, but we suppose it is too early to make conclusions about the degree and severity of COVID-19 among children suffering from rheumatic diseases and receiving various biological agents. Further follow-up is needed to better understand the risk and impact of COVID-19 among children with rheumatic diseases and receiving therapy with biological agents. Disclosure N. Tsurikova: None. E. Ligostaeva: None. V. Avdeenko: None. N. Kobzeva: None. I. Tsiganok: None. K. Skorobogatova: None. A. Motkina: None.

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Screening for Tuberculosis in Health Care Workers: Experience in an Italian Teaching Hospital

BioMed Research International ◽

10.1155/2017/7538037 ◽

2017 ◽

Vol 2017 ◽

pp. 1-6 ◽

Cited By ~ 3

Author(s):

Christian Napoli ◽

Filippo Ferretti ◽

Filippo Di Ninno ◽

Riccardo Orioli ◽

Alessandra Marani ◽

...

Keyword(s):

Health Care ◽

Teaching Hospital ◽

Health Care Workers ◽

Screening Tests ◽

Specificity And Sensitivity ◽

Large Teaching Hospital ◽

Care Workers ◽

Low Incidence ◽

Positive Results

Health care workers (HCW) are particularly at risk of acquiring tuberculosis (TB), even in countries with low TB incidence. Therefore, TB screening in HCW is a useful prevention strategy in countries with both low and high TB incidence. Tuberculin skin test (TST) is widely used although it suffers of low specificity; on the contrary, the in vitro enzyme immunoassay tests (IGRA) show superior specificity and sensitivity but are more expensive. The present study reports the results of a three-year TB surveillance among HCW in a large teaching hospital in Rome, using TST (by standard Mantoux technique) and IGRA (by QuantiFERON-TB) as first- and second-level screening tests, respectively. Out of 2290 HCW enrolled, 141 (6.1%) had a positive TST; among them, 99 (70.2%) underwent the IGRA and 16 tested positive (16.1%). The frequency of HCW tested positive for TB seems not far from other experiences in low incidence countries. Our results confirm the higher specificity of IGRA, but, due to its higher cost, TST can be considered a good first level screening test, whose positive results should be further confirmed by IGRA before the patients undergo X-ray diagnosis and/or chemotherapy.

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