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Sample records for newborn screening collective

  1. Hearing Loss: Screening Newborns

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Hearing Loss Screening Newborns Past Issues / Spring 2015 Table of ... of newborns in the U.S. are screened for hearing loss before they leave the hospital. Research improves the ...

  2. NEWBORN SCREENING PROGRAM: WHY TO COLLECT IN HIGH THE HOSPITAL ONE?

    Directory of Open Access Journals (Sweden)

    Maria Ribeiro Lacerda

    2003-12-01

    Full Text Available The National Program of Newborn Screening for research of the Phenylketonuria, Congenital Hypothyroidism,Cystic Fibrosis, Sickle Cell Disease and other Hemoglobinopathies, it has as objective precociously todetect and to treat illnesses that, if prevented, prevent sequels as the mental deficiency and others. We intend,through this article, to awake the attention of the health professionals, mainly of the nurses, who act in the attendanceof the just-been newborn, of the gestante, the woman in labor and in puerperium, on the importance of theprecocious diagnosis of the diseases searched in the Program, with primordial purposes to assist the suckle for itsgood physical, neurological, psychological and intellectual development, besides offering to familiar the o geneticadvise. The examination gratuitous and is supported by law, and so that the prevention is effective, all the Maternitiesmust always carry through the collections of sample of blood of the heel of the high baby in the hospital one.

  3. Newborn screening in Zhejiang, China

    Institute of Scientific and Technical Information of China (English)

    Riziwanguli Maitusong; Rukeya Japaer; ZHAO Zheng-yan; YANG Ru-lai; HUANG Xiao-lei; MAO Hua-qing

    2012-01-01

    Background It has been 11 years since newborn screening started in Zhejiang in 1999.The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009.Methods Blood samples were collected from the heels of newborns 72 hours after birth.We have conducted laboratory tests that the congenital hypothyroidism (CH) and circulating levels of thyroid-stimulating hormone (TSH) was detected.Blood phenylalanine (Phe) was detected for phenylketonuria (PKU).Dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) was used for detection.Results From 1999 to 2009,3875228 newborns were screened and 2309 cases were confirmed as CH and 155 cases were confirmed as PKU.The incidence of CH and PKU were 1:1678 and 1:25 001 respectively.Conclusion In 11 years,the Zhejiang newborn screening center screened more than 3.8 million newboms,and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.

  4. Screening of Newborn Saturation

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    Senem Ozgur

    2014-08-01

    Full Text Available In terms of the incidence, congenital heart diseases ranks first among congenital problems in the neonatal period. Although some of those diseases are with significant clinical findings, they might be insignificant in most cases. Standardization methods have been studied in variety of points, and oxygen saturation by pulse oximetry is thougt to be a good alternative to physical examination. In several studies, it is mentioned that some of congenital heart diseases are diagnosed by saturation screening. However, the benefits of this method are marred with the false negative and false positive rates. Therefore, in 2011 American Academy of Pediatrics has revised its saturation algorithm for scanning. It was aimed to have a standardization in saturation detecting time and evaluation of achieved saturation in newborns. Despite all efforts, some newborns with congenital heart disease are not diagnosed before discharging. We beleive that the details of saturation measurements are needed to be carefully evaluated because although these measurements are widely used their details are not well known. [Archives Medical Review Journal 2014; 23(4.000: 587-604

  5. Screening Newborns' Hearing Now Standard

    Science.gov (United States)

    ... this page please turn Javascript on. Feature: Taste, Smell, Hearing, Language, Voice, Balance Screening Newborns' Hearing Now ... emailing NIDCDinfo@nidcd.nih.gov . Read More "Taste, Smell, Hearing, Language, Voice, Balance" Articles At Last: A ...

  6. Newborn screening tests

    Science.gov (United States)

    ... for the newborn heel prick blood sample include pain and possible bruising at the site where the blood was obtained. ... Morrow C et al. Reducing neonatal pain during routine heel lance procedures. ... Last updated 3/3/15. Accessed 6/18/2015. Sahai I, ...

  7. Theorical and practical bases for blood sample collection from the heel of newborns for neonatal screening

    Directory of Open Access Journals (Sweden)

    Marcela Vela-Amieva

    2014-07-01

    collected in a special filter paper (Guthrie’s card. Despite its apparent simplicity, NBS laboratories commonly receive a large number of samples collected incorrectly and technically unsuitable for perfor4ming biochemical determinations. The aim of the present paper is to offer recommendations based on scientific evidence, for the properly blood collection on filter paper for NBS programs.

  8. Newborn screening for MCAD deficiency

    DEFF Research Database (Denmark)

    Horvath, Gabriella A; Davidson, A G F; Stockler-Ipsiroglu, Sylvia G

    2008-01-01

    BACKGROUND: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of ...

  9. NICHD Research Initiative in Newborn Screening

    Science.gov (United States)

    Alexander, Duane; Hanson, James W.

    2006-01-01

    Recent changes in genetics research have created new opportunities to improve the scope and quality of newborn screening services. Changes in newborn screening should be supported and directed by an organized program of research. The NICHD Research Initiative in Newborn Screening includes the development of systematic methods to identify…

  10. Newborn genetic screening: blessing or curse?

    Science.gov (United States)

    Kenner, C; Amlung, S

    1999-10-01

    Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

  11. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    Science.gov (United States)

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  12. Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil.

    Science.gov (United States)

    Lobo, Clarisse Lopes de Castro; Ballas, Samir K; Domingos, Ana Carolina Bonini; Moura, Patricia G; do Nascimento, Emilia Matos; Cardoso, Gilberto Perez; de Carvalho, Silvia Maia Farias

    2014-01-01

    Newborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of this study was to evaluate the effectiveness of the first 10 years of the Newborn Hemoglobinopathy Screening Program in identifying and managing infants with Sickle cell disease (SCD) in the State of Rio de Janeiro. Blood samples from 1,217,833 neonates were analyzed by High Performance Liquid Chromatography. Infants with SCD were enrolled in comprehensive treatment programs. Data showed that 4.87% of the newborns were heterozygous for a hemoglobin variant, 0.08% were homozygous or doubly heterozygous for abnormal hemoglobins and 95.02% had normal hemoglobin. All the 912 newborns with SCD were referred for treatment at HEMORIO, 34 (3.7%) of these died due to acute chest syndrome, sepsis or splenic sequestration. Four more children died of unknown causes. The implementation of the Rio de Janeiro Newborn Screening Program gradually increased the area of the State covered by the program. Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD. © 2013 Wiley Periodicals, Inc.

  13. Newborn screening for SCID identifies patients with ataxia telangiectasia.

    Science.gov (United States)

    Mallott, Jacob; Kwan, Antonia; Church, Joseph; Gonzalez-Espinosa, Diana; Lorey, Fred; Tang, Ling Fung; Sunderam, Uma; Rana, Sadhna; Srinivasan, Rajgopal; Brenner, Steven E; Puck, Jennifer

    2013-04-01

    Severe combined immunodeficiency (SCID) is characterized by failure of T lymphocyte development and absent or very low T cell receptor excision circles (TRECs), DNA byproducts of T cell maturation. Newborn screening for TRECs to identify SCID is now performed in several states using PCR of DNA from universally collected dried blood spots (DBS). In addition to infants with typical SCID, TREC screening identifies infants with T lymphocytopenia who appear healthy and in whom a SCID diagnosis cannot be confirmed. Deep sequencing was employed to find causes of T lymphocytopenia in such infants. Whole exome sequencing and analysis were performed in infants and their parents. Upon finding deleterious mutations in the ataxia telangiectasia mutated (ATM) gene, we confirmed the diagnosis of ataxia telangiectasia (AT) in two infants and then tested archival newborn DBS of additional AT patients for TREC copy number. Exome sequencing and analysis led to 2 unsuspected gene diagnoses of AT. Of 13 older AT patients for whom newborn DBS had been stored, 7 samples tested positive for SCID under the criteria of California's newborn screening program. AT children with low neonatal TRECs had low CD4 T cell counts subsequently detected (R = 0.64). T lymphocytopenia in newborns can be a feature of AT, as revealed by TREC screening and exome sequencing. Although there is no current cure for the progressive neurological impairment of AT, early detection permits avoidance of infectious complications, while providing information for families regarding reproductive recurrence risks and increased cancer risks in patients and carriers.

  14. Newborn screening in the Asia Pacific region.

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    Padilla, Carmencita D; Therrell, Bradford L

    2007-08-01

    The success of blood spot newborn screening in the USA led to early screening efforts in parts of the Asia Pacific Region in the mid-1960s. While there were early screening leaders in the region, many of the countries with depressed and developing economies are only now beginning organized screening efforts. Four periods of screening growth in the Asia Pacific region were identified. Beginning in the 1960s, blood spot screening began in New Zealand and Australia, followed by Japan and a cord blood screening programme for G6PD deficiency in Singapore. In the 1980s, established programmes added congenital hypothyroidism and new programmes developed in Taiwan, Hong Kong, China (Shanghai), India and Malaysia. Programmes developing in the 1990s built on the experience of others developing more rapidly in Korea, Thailand and the Philippines. In the 2000s, with limited funding support from the International Atomic Energy Agency, there has been screening programme development around detection of congenital hypothyroidism in Indonesia, Mongolia, Sri Lanka, Myanmar and Pakistan. Palau has recently contracted with the Philippine newborn screening programme. There is little information available on newborn screening activities in Nepal, Cambodia, Laos and the other Pacific Island nations, with no organized screening efforts apparent. Since approximately half of the births in the world occur in the Asia Pacific Region, it is important to continue the ongoing implementation and expansion efforts so that these children can attain the same health status as children in more developed parts of the world and their full potential can be realized.

  15. Prenatal and newborn screening for hemoglobinopathies.

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    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  16. Newborn Screening for Lysosomal Storage Disorders and Other Neuronopathic Conditions

    Science.gov (United States)

    Matern, Dietrich; Oglesbee, Devin; Tortorelli, Silvia

    2013-01-01

    Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or…

  17. Newborn Screening To Prevent Mental Retardation. The Arc Q & A.

    Science.gov (United States)

    Arc, Arlington, TX.

    This information fact sheet on screening newborns to prevent mental retardation defines newborn screening and outlines how screening is performed. It discusses the six most common disorders resulting in mental retardation for which states most commonly screen. These include phenylketonuria, congenital hypothyroidism, galactosemia, maple syrup…

  18. Screening of the hearing of newborns - Update

    Directory of Open Access Journals (Sweden)

    von Voß, Hubertus

    2006-11-01

    Full Text Available Introduction: Permanent congenital bilateral hearing loss (CHL of moderate or greater degree (≥40 dB HL is a rare disease, with a prevalence of about 1 to 3 per 1000 births. However, it is one of the most frequent congenital diseases. Reliance on physician observation and parental recognition has not been successful in the past in detecting significant hearing loss in the first year of life. With this strategy significant hearing losses have been detected in the second year of life. With two objective technologies based on physiologic response to sound, otoacoustic emissions (OAE and auditory brainstem response (ABR hearing screening in the first days of life is made possible. Objectives: The objective of this health technology assessment report is to update the evaluation on clinical effectiveness and cost-effectiveness of newborn hearing screening programs. Universal newborn hearing screening (UHNS (i, selective screening of high risk newborns (ii, and the absence of a systematic screening program are compared for age at identification and age at hearing aid fitting of children with hearing loss. Secondly the potential benefits of early intervention are analysed. Costs and cost-effectiveness of newborn hearing screening programs are determined. This report is intended to make a contribution to the decision making whether and under which conditions a newborn hearing screening program should be reimbursed by the statutory sickness funds in Germany. Methods: This health technology assessment report updates a former health technology assessment (Kunze et al. 2004 [1]. A systematic review of the literature was conducted, based on a documented search and selection of the literature using predefined inclusion and exclusion criteria and a documented extraction and appraisal of the included studies. To assess the cost-effectiveness of the different screening strategies in Germany the decision analytic Markov state model which had been developed in

  19. How Are Newborn Screening Tests Done?

    Science.gov (United States)

    ... collection. Part of the card consists of special absorbent paper used to collect the blood sample. 1 ... blood is taken through a "heel stick." The absorbent portion of the screening card is then placed ...

  20. Newborn Screening for Krabbe’s Disease

    Science.gov (United States)

    Orsini, Joseph J.; Saavedra-Matiz, Carlos A.; Gelb, Michael H.; Caggana, Michele

    2017-01-01

    Live newborn screening for Krabbe’s disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Missouri is ~1 per 500,000; however, patients who develop later-onset forms of KD may still emerge. This Review provides an overview of the processes used to develop the screening and followup algorithms. It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options for infants with early-infantile Krabbe’s disease are not curative, over time treatment options should improve; in the meantime, it is essential to evaluate the lessons learned and to ensure that screening is completed in the best possible manner until these improvements can be realized. PMID:27638592

  1. Conference on Newborn Hearing Screening; Proceedings Summary and Recommendations.

    Science.gov (United States)

    Alexander Graham Bell Association for the Deaf, Inc., Washington, DC.

    Presented in the conference proceedings are schedule and list of participants, seven major papers, and the newborn hearing screening recommendations of the interdisciplinary conference on newborn hearing and early identification of hearing impairment. Neonatal auditory testing is reviewed by Sanford E. Gerber, and Sheldon B. Korones gives a…

  2. Newborn bloodspot screening policy framework for Australia

    Directory of Open Access Journals (Sweden)

    Peter O'Leary

    2015-09-01

    Full Text Available Background The aim of newborn bloodspot screening (NBS is to identify rare genetic and non-genetic conditions in children soon after birth in order to commence therapies that prevent the development of progressive, serious, and irreversible disabilities. Universal NBS programmes have been implemented in most countries, with minor adaptations to target conditions most relevant to the local healthcare environment. Aims In this article, we describe the initiatives of international and Australian governments to develop policies to address the expansion of NBS in their healthcare systems. Methods We have reviewed published public policies and literature to formulate recommendations based on clinical, social, legal, and ethical principles to inform a national governance and policy framework for Australia. Results Australian policy makers have been slow to develop a coordinated plan. While the experience from other governments can guide our national policy, there are specific areas that require further consideration by Australian health experts. Key reforms involve the separation of policy and operational activities, multidisciplinary decision-making and oversight by the Australian Health Ministers’ Advisory Council for policy direction. Conclusion A formal national policy framework will guide the coordination of NBS services that can adapt to the needs of Australian children and families.

  3. Newborn Screening (NBS): Answers to Frequently Asked Questions

    Science.gov (United States)

    ... here . What if I don't have the money to purchase Additional Newborn Screening? If you have ... may not know about it. Be prepared to supply your doctor with information. For information to give ...

  4. Economic evaluation of newborn hearing screening: modelling costs and outcomes

    Directory of Open Access Journals (Sweden)

    von Voß, Hubertus

    2003-12-01

    Full Text Available Objectives: The prevalence of newborn hearing disorders is 1-3 per 1,000. Crucial for later outcome are correct diagnosis and effective treatment as soon as possible. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening is recommended but not realised in most European health care systems.Aim of the study was to examine the scientific evidence of newborn hearing screening and a comparison of medical outcome and costs of different programmes, differentiated by type of strategy (risk screening, universal screening, no systematical screening. Methods: In an interdisciplinary health technology assessment project all studies on newborn hearing screening detected in a standardized comprehensive literature search were identified and data on medical outcome, costs, and cost-effectiveness extracted. A Markov model was designed to calculate cost-effectiveness ratios. Results: Economic data were extracted from 20 relevant publications out of 39 publications found. In the model total costs for screening of 100,000 newborns with a time horizon of ten years were calculated: 2.0 Mio.€ for universal screening (U, 1.0 Mio.€ for risk screening (R, and 0.6 Mio.€ for no screening (N. The costs per child detected: 13,395€ (U respectively 6,715€ (R, and 4,125€ (N. At 6 months of life the following percentages of cases are detected: U 72%, R 43%, N 13%. Conclusions: A remarkable small number of economic publications mainly of low methodological quality was found. In our own model we found reasonable cost-effectiveness ratios also for universal screening. Considering the outcome advantages of higher numbers of detected cases a universal newborn hearing screening is recommended.

  5. Lessons Learned From Newborn Screening for Critical Congenital Heart Defects.

    Science.gov (United States)

    Oster, Matthew E; Aucott, Susan W; Glidewell, Jill; Hackell, Jesse; Kochilas, Lazaros; Martin, Gerard R; Phillippi, Julia; Pinto, Nelangi M; Saarinen, Annamarie; Sontag, Marci; Kemper, Alex R

    2016-05-01

    Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel's goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude.

  6. Universal newborn hearing screening coming soon: "hear's" why.

    Science.gov (United States)

    Knott, C

    2001-12-01

    Screening the hearing of all newborns, both NICU and well nursery, is rapidly becoming the standard of care. The impetus for universal newborn hearing screening (UNHS) has come from outside the domain of nursing and the newborn nursery. Because nursing will be involved in nearly all aspects of UNHS, nurses need a thorough knowledge base about permanent childhood hearing loss (PCHL) and UNHS. Technology exisits today that can objectively and physiologically screen for this condition at a cost comparable to metabolic screening. PCHL occurs more than twice as often as all the hemoglobinopathies and inborn errors of metabolism combined. Undiagnosed hearing loss often leads to permanent developmental delays. The ultimate goal of early diagnosis and intervention for a congenital hearing loss is to enable the child to develop language and communication skills that correspond to his chronological age and innate cognitive abilities.

  7. Parental decision-making and acceptance of newborn bloodspot screening: an exploratory study.

    Directory of Open Access Journals (Sweden)

    Stuart G Nicholls

    Full Text Available OBJECTIVE: Newborn bloodspot screening is an internationally established public health measure. Despite this, there is a paucity of information relating to the decision-making process that parents go through when accepting newborn screening. This is important as screening panels are expanding; potentially leading to an increasing amount of complex information. This study sought to understand the factors that influence parental decisions and roles they play in the decision-making process. PATIENTS AND METHODS: Qualitative thematic evaluation of semi structured interviews with parents whose children had recently undergone newborn screening in the Merseyside and Cheshire region of England, UK. RESULTS: Eighteen interviews with first time parents (n = 12 and those with previous children (n = 6. Seven factors were identified as being either explicitly or implicitly related to parental decision-making: Experience, Attitudes to medicine, Information-seeking behaviour, Perceived knowledge, Attitudes to screening, and Perceived choice, all of which ultimately impact on Perceived decisional quality. CONCLUSIONS: These results indicate that while content is important, other contextual factors such as personal experience, perceived choice, and general attitudes toward medicine, are also highly influential. In particular, relationships with key healthcare professionals are central to information collection, attitudes toward screening, and the level of deliberation that is invested in decisions to accept newborn bloodspot screening.

  8. Newborn Hearing Screening: An Analysis of Current Practices

    Science.gov (United States)

    Houston, K. Todd; Bradham, Tamala S.; Munoz, Karen F.; Guignard, Gayla Hutsell

    2011-01-01

    State coordinators of early hearing detection and intervention (EHDI) programs completed a strengths, weaknesses, opportunities, and threats, or SWOT, analysis that consisted of 12 evaluative areas of EHDI programs. For the newborn hearing screening area, a total of 293 items were listed by 49 EHDI coordinators, and themes were identified within…

  9. Students as Technicians: Screening Newborns for Cystic Fibrosis

    Science.gov (United States)

    Gusky, Sharon

    2014-01-01

    In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

  10. Enhanced interpretation of newborn screening results without analyte cutoff values

    NARCIS (Netherlands)

    Marquardt, Gregg; Currier, Robert; McHugh, David M. S.; Gavrilov, Dimitar; Magera, Mark J.; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Smith, Emily H.; Tortorelli, Silvia; Turgeon, Coleman T.; Lorey, Fred; Wilcken, Bridget; Wiley, Veronica; Greed, Lawrence C.; Lewis, Barry; Boemer, Francois; Schoos, Roland; Marie, Sandrine; Vincent, Marie-Francoise; Sica, Yuri Cleverthon; Domingos, Mouseline Torquado; Al-Thihli, Khalid; Sinclair, Graham; Al-Dirbashi, Osama Y.; Chakraborty, Pranesh; Dymerski, Mark; Porter, Cory; Manning, Adrienne; Seashore, Margretta R.; Quesada, Jonessy; Reuben, Alejandra; Chrastina, Petr; Hornik, Petr; Mandour, Iman Atef; Sharaf, Sahar Abdel Atty; Bodamer, Olaf; Dy, Bonifacio; Torres, Jasmin; Zori, Roberto; Cheillan, David; Vianey-Saban, Christine; Ludvigson, David; Stembridge, Adrya; Bonham, Jim; Downing, Melanie; Dotsikas, Yannis; Loukas, Yannis L.; Papakonstantinou, Vagelis; Zacharioudakis, Georgios S. A.; Barath, Akos; Karg, Eszter; Franzson, Leifur; Jonsson, Jon J.; Breen, Nancy N.; Lesko, Barbara G.; Berberich, Stanton L.; Turner, Kimberley; Ruoppolo, Margherita; Scolamiero, Emanuela; Antonozzi, Italo; Carducci, Claudia; Caruso, Ubaldo; Cassanello, Michela; la Marca, Giancarlo; Pasquini, Elisabetta; Di Gangi, Iole Maria; Giordano, Giuseppe; Camilot, Marta; Teofoli, Francesca; Manos, Shawn M.; Peterson, Colleen K.; Gibson, Stephanie K. Mayfield; Sevier, Darrin W.; Lee, Soo-Youn; Park, Hyung-Doo; Khneisser, Issam; Browning, Phaidra; Gulamali-Majid, Fizza; Watson, Michael S.; Eaton, Roger B.; Sahai, Inderneel; Ruiz, Consuelo; Torres, Rosario; Seeterlin, Mary A.; Stanley, Eleanor L.; Hietala, Amy; McCann, Mark; Campbell, Carlene; Hopkins, Patrick V.; de Sain-Van der Velden, Monique G.; Elvers, Bert; Morrissey, Mark A.; Sunny, Sherlykutty; Knoll, Detlef; Webster, Dianne; Frazier, Dianne M.; McClure, Julie D.; Sesser, David E.; Willis, Sharon A.; Rocha, Hugo; Vilarinho, Laura; John, Catharine; Lim, James; Caldwell, S. Graham; Tomashitis, Kathy; Castineiras Ramos, Daisy E.; Cocho de Juan, Jose Angel; Fernandez, Inmaculada Rueda; Yahyaoui Macias, Raquel; Maria Egea-Mellado, Jose; Gonzalez-Gallego, Inmaculada; Delgado Pecellin, Carmen; Garcia-Valdecasas Bermejo, Maria Sierra; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Childs, Thomas; McKeever, Christine D.; Tanyalcin, Tijen; Abdulrahman, Mahera; Queijo, Cecilia; Lemes, Aida; Davis, Tim; Hoffman, William; Baker, Mei; Hoffman, Gary L.

    2012-01-01

    Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recog

  11. Enhanced interpretation of newborn screening results without analyte cutoff values

    NARCIS (Netherlands)

    Marquardt, Gregg; Currier, Robert; McHugh, David M. S.; Gavrilov, Dimitar; Magera, Mark J.; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Smith, Emily H.; Tortorelli, Silvia; Turgeon, Coleman T.; Lorey, Fred; Wilcken, Bridget; Wiley, Veronica; Greed, Lawrence C.; Lewis, Barry; Boemer, Francois; Schoos, Roland; Marie, Sandrine; Vincent, Marie-Francoise; Sica, Yuri Cleverthon; Domingos, Mouseline Torquado; Al-Thihli, Khalid; Sinclair, Graham; Al-Dirbashi, Osama Y.; Chakraborty, Pranesh; Dymerski, Mark; Porter, Cory; Manning, Adrienne; Seashore, Margretta R.; Quesada, Jonessy; Reuben, Alejandra; Chrastina, Petr; Hornik, Petr; Mandour, Iman Atef; Sharaf, Sahar Abdel Atty; Bodamer, Olaf; Dy, Bonifacio; Torres, Jasmin; Zori, Roberto; Cheillan, David; Vianey-Saban, Christine; Ludvigson, David; Stembridge, Adrya; Bonham, Jim; Downing, Melanie; Dotsikas, Yannis; Loukas, Yannis L.; Papakonstantinou, Vagelis; Zacharioudakis, Georgios S. A.; Barath, Akos; Karg, Eszter; Franzson, Leifur; Jonsson, Jon J.; Breen, Nancy N.; Lesko, Barbara G.; Berberich, Stanton L.; Turner, Kimberley; Ruoppolo, Margherita; Scolamiero, Emanuela; Antonozzi, Italo; Carducci, Claudia; Caruso, Ubaldo; Cassanello, Michela; la Marca, Giancarlo; Pasquini, Elisabetta; Di Gangi, Iole Maria; Giordano, Giuseppe; Camilot, Marta; Teofoli, Francesca; Manos, Shawn M.; Peterson, Colleen K.; Gibson, Stephanie K. Mayfield; Sevier, Darrin W.; Lee, Soo-Youn; Park, Hyung-Doo; Khneisser, Issam; Browning, Phaidra; Gulamali-Majid, Fizza; Watson, Michael S.; Eaton, Roger B.; Sahai, Inderneel; Ruiz, Consuelo; Torres, Rosario; Seeterlin, Mary A.; Stanley, Eleanor L.; Hietala, Amy; McCann, Mark; Campbell, Carlene; Hopkins, Patrick V.; de Sain-Van der Velden, Monique G.; Elvers, Bert; Morrissey, Mark A.; Sunny, Sherlykutty; Knoll, Detlef; Webster, Dianne; Frazier, Dianne M.; McClure, Julie D.; Sesser, David E.; Willis, Sharon A.; Rocha, Hugo; Vilarinho, Laura; John, Catharine; Lim, James; Caldwell, S. Graham; Tomashitis, Kathy; Castineiras Ramos, Daisy E.; Cocho de Juan, Jose Angel; Fernandez, Inmaculada Rueda; Yahyaoui Macias, Raquel; Maria Egea-Mellado, Jose; Gonzalez-Gallego, Inmaculada; Delgado Pecellin, Carmen; Garcia-Valdecasas Bermejo, Maria Sierra; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Childs, Thomas; McKeever, Christine D.; Tanyalcin, Tijen; Abdulrahman, Mahera; Queijo, Cecilia; Lemes, Aida; Davis, Tim; Hoffman, William; Baker, Mei; Hoffman, Gary L.

    2012-01-01

    Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recog

  12. Newborn Hearing Screening: An Analysis of Current Practices

    Science.gov (United States)

    Houston, K. Todd; Bradham, Tamala S.; Munoz, Karen F.; Guignard, Gayla Hutsell

    2011-01-01

    State coordinators of early hearing detection and intervention (EHDI) programs completed a strengths, weaknesses, opportunities, and threats, or SWOT, analysis that consisted of 12 evaluative areas of EHDI programs. For the newborn hearing screening area, a total of 293 items were listed by 49 EHDI coordinators, and themes were identified within…

  13. Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.

    Science.gov (United States)

    Chen, Wei-Hsin; Hsieh, Sheau-Ling; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei

    2013-05-23

    A hospital information system (HIS) that integrates screening data and interpretation of the data is routinely requested by hospitals and parents. However, the accuracy of disease classification may be low because of the disease characteristics and the analytes used for classification. The objective of this study is to describe a system that enhanced the neonatal screening system of the Newborn Screening Center at the National Taiwan University Hospital. The system was designed and deployed according to a service-oriented architecture (SOA) framework under the Web services .NET environment. The system consists of sample collection, testing, diagnosis, evaluation, treatment, and follow-up services among collaborating hospitals. To improve the accuracy of newborn screening, machine learning and optimal feature selection mechanisms were investigated for screening newborns for inborn errors of metabolism. The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for data exchanges among heterogeneous platforms integrated by Web services in the C# language. In this study, machine learning classification was used to predict phenylketonuria (PKU), hypermethioninemia, and 3-methylcrotonyl-CoA-carboxylase (3-MCC) deficiency. The classification methods used 347,312 newborn dried blood samples collected at the Center between 2006 and 2011. Of these, 220 newborns had values over the diagnostic cutoffs (positive cases) and 1557 had values that were over the screening cutoffs but did not meet the diagnostic cutoffs (suspected cases). The original 35 analytes and the manifested features were ranked based on F score, then combinations of the top 20 ranked features were selected as input features to support vector machine (SVM) classifiers to obtain optimal feature sets. These feature sets were tested using 5-fold cross-validation and optimal models were generated. The datasets collected in year 2011 were used as

  14. Timing of Newborn Pulse Oximetry Screenings for Critical Congenital Heart Defects Before Discharge.

    Science.gov (United States)

    Crouch, Lynn; Speroni, Karen Gabel; Jones, Ruth Ann; MacDougall, Eileen P; Daniel, Marlon G

    2016-01-01

    To determine if there would be positive results from a second pulse oximetry screening (POS) completed for newborns at discharge at 28 to 48 hours of age in addition to the newborn POS completed at 24 to 25 hours of age. Prospective descriptive research study. Rural, mid-Atlantic, 13-bed, level I hospital. Newborns (N = 1,002) at 35 weeks' gestation or older discharged from the newborn nursery. Registered nurses (RNs) performed POS at 24 to 25 hours of age (POS 1) and at discharge but less than 48 hours of age (POS 2). Data related to critical congenital heart defects were collected. There were no positive POS results (O2 saturation ≤ 90%) at POS 1 or POS 2, and no additional diagnostic tests were ordered as a result of POS. Although one full-term newborn had negative results at POS 1 and POS 2, the RN identified a murmur, and a subsequent echocardiogram was used to detect tetralogy of Fallot and pulmonary atresia. The RNs detected concerning conditions in 14 newborns that resulted in 28 additional tests, including echocardiograms (9), chest x-ray imaging (8), laboratory testing (7), electrocardiograms (3), and ultrasound imaging (1). The POS-positive result rate was 0 for newborns at POS 1 and POS 2. Therefore, our study findings supported Maryland's mandate of one POS completed within 24 to 48 hours of birth. Nurses must continue to be vigilant about assessing newborns, including screening for critical congenital heart defects and congenital heart defects. Copyright © 2016 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses. Published by Elsevier Inc. All rights reserved.

  15. Holocarboxylase synthetase deficiency pre and post newborn screening

    Directory of Open Access Journals (Sweden)

    Taraka R. Donti

    2016-06-01

    Full Text Available Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth with emesis, hypotonia, lethargy, seizures, metabolic ketolactic acidosis, hyperammonemia, developmental delay, skin rash and alopecia. The condition is screened for by newborn screening (NBS tandem mass spectroscopy by elevated hydroxypentanoylcarnitine on dried blood spots. Urine organic acid profile may demonstrate elevated lactic, 3-OH isovaleric, 3-OH propionic, 3-MCC, methylcitric acids, and tiglylglycine consistent with loss of function of the above carboxylases. Here we describe a cohort of patients, 2 diagnosed pre-NBS and 3 post-NBS with broad differences in initial presentation and phenotype. In addition, prior to the advent of NBS, there are isolated reports of late-onset holocarboxylase synthetase deficiency in the medical literature, which describe patients diagnosed between 1 and 8 years of life, however to our knowledge there are no reports of late-onset HCLS being missed by NBS. Also we report two cases, each with novel pathogenic variants HCLS, diagnosed at age 3 years and 21 months respectively. The first patient had a normal newborn screen whilst the second had an abnormal newborn screen but was misdiagnosed as 3-methylcrotonylcarboxylase (3-MCC deficiency and subsequently lost to follow-up until they presented again with severe metabolic acidosis.

  16. Common criteria among States for storage and use of dried blood spot specimens after newborn screening

    Directory of Open Access Journals (Sweden)

    Carlo Petrini

    2012-06-01

    Full Text Available Biological samples collected in biobanks are a resource with significant research potential. The Italian Joint Group cNB - cNBBSV (National committee of Bioethics - National committee for Biosecurity, Biotechnologies and Life Sciences published a document reporting recommendations on storage and use of dried blood spot (DBS and on the development of a National Network of Regional Newborn Screening Repositories for collection of residual DBS. Several ethical questions (about consent, possible use of genetic information, unanticipated possible usages for research purposes rise from residual newborn screening specimens collections. Moreover, legal and ethical controversies are accentuated by the conflicts between the interests of sample donors, biobank holders, researchers and the public. To overcome these difficulties the identification of a few criteria for storage and research usage of DBS is crucial.

  17. A three-year follow-up of congenital adrenal hyperplasia newborn screening,

    Directory of Open Access Journals (Sweden)

    Isabela L. Pezzuti

    Full Text Available OBJECTIVE:congenital adrenal hyperplasia (CAH newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up.METHODS:dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA.RESULTS:a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively.CONCLUSIONS:newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease.

  18. Medical swab touch spray-mass spectrometry for newborn screening of nicotine and cotinine in meconium.

    Science.gov (United States)

    Yang, Bi-Cheng; Wang, Feng; Yang, Xiao; Zou, Wei; Wang, Jia-Chun; Zou, Yang; Liu, Fa-Ying; Liu, Huai; Huang, Ou-Ping

    2016-12-01

    Newborn screening is one of public health concerns designed to screen infants shortly after birth. Prenatal exposure to tobacco smoke such as nicotine has been reported to affect babies. Levels of nicotine and cotinine in meconium were widely used to evaluate the tobacco exposure of foetuses during pregnancy in a polluted environment. In this study, medical swabs were applied by using touch spray-mass spectrometry (TS-MS) to collect meconium from newborn infants for detection of nicotine and cotinine. Parameters such as choice of spray solvents, solvent volume and collision energy for screening of nicotine and cotinine were optimized. The limits of detection, reproducibility and matrix effect for analysis of meconium were also investigated. In this study, the levels of nicotine and cotinine in 54 puerpera volunteers were screened by TS-MS and were validated by using traditional liquid chromatography-mass spectrometry. These results showed that medical swab TS-MS would be useful for newborn screening of nicotine and cotinine in meconium with high reproducibility, speed, sensitivity and specificity. The use of disposable medical swabs involves no sample preparation and no chromatographic separation, significantly reducing the cost and time required for screening a large number of clinical sample. Copyright © 2016 John Wiley & Sons, Ltd.

  19. [Newborn hearing screening in Rio de Janeiro's municipal network, Brazil].

    Science.gov (United States)

    Lima, Priscila Tavares; Goldbach, Márcia Goldfeld; Monteiro, Márcia Cavadas; Ribeiro, Márcia Gonçalves

    2015-01-01

    Hearing deficiencies are a prevalent disease and justify the need for regulation of the Laws and their execution through Hearing Health Care Ordinances. In line with public policies, maternity hospitals that were part of the network began to implement the Newborn Hearing Screening (NHS) service, as had occurred in the city of Rio de Janeiro. The otoacoustic emissions test is used for NHS as it is a rapid and highly reliable method that is easy to perform and gives objective results. The scope of this article is to get fully acquainted with the assistance and care for the hearing health of newborns in maternity wards of the Municipal Health Grid. It is an observational, descriptive, cross-sectional analysis with frequency distribution, and was conducted at SMS-RJ Maternity hospitals that perform NHS. Three maternity hospitals with NHS (A, B and C) were identified, in which 1,865 live newborns were recorded. Of this total, 40.5% performed the NHS exam. In maternity hospitals A and B, the NHS exam was applied to 54.6%, of which 97.3% passed and only 1.8% failed and needed to be referred to the high complexity unit. The NHS is the initial stage of the Hearing Health Care Program for the newborn. It is important that the NHS services should be fully integrated into the network through the Hearing Health Care Program.

  20. The Wisconsin approach to newborn screening for severe combined immunodeficiency.

    Science.gov (United States)

    Verbsky, James; Thakar, Monica; Routes, John

    2012-03-01

    Severe combined immunodeficiency (SCID) is a life-threatening disease of infants that is curable with hematopoietic cell transplantation if detected early. Population-based screening for SCID using the T-cell receptor excision circle (TREC) assay began in Wisconsin in 2008; 5 infants with SCID or other forms of severe T-cell lymphopenia (TCL) have been detected, and no infants with SCID have been missed. This review will provide an overview of the TREC screening assay and an update of the findings from Wisconsin on all infants screened from January 1, 2008, until December 31, 2010. Importantly, we give practical recommendations regarding newborn population-based screening using the TREC assay, including the evaluation and care of infants detected.

  1. Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.

    Science.gov (United States)

    González, Ernesto Carlos; Carvajal, Frank; Frómeta, Amarilys; Arteaga, Ana Luisa; Castells, Elisa María; Espinosa, Tania; Coto, Remigio; Pérez, Pedro Lucio; Tejeda, Yileidis; Del Río, Lesley; Segura, Mary Triny; Almenares, Pedro; Robaina, René; Fernández, José Luis

    2013-06-05

    Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55 nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22 days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Newborn screening for sickle cell disease in Jamaica: logistics and experience with umbilical cord samples.

    Science.gov (United States)

    Serjeant, G R; Serjeant, B E; Mason, K P; Gardner, R; Warren, L; Gibson, F; Coombs, M

    2017-01-01

    The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin). Focusing on the year 2015, screening was performed in 15,408, compliance with sample collection was 98.1 %, and maternal contamination occurred in 335 (2.6 %) but in only 0.05 % did diagnostic confusion require patient recall and further tests. This model of newborn screening for sickle cell disease is accurate, robust and economic. It is hoped that it may be helpful for other societies with high prevalence of abnormal haemoglobins and limited resources, who are planning to embark on newborn screening for sickle cell disease.

  3. [Newborn screening for galactosemia: a health economics evaluation].

    Science.gov (United States)

    Camelo Junior, José Simon; Fernandes, Maria Inez Machado; Jorge, Salim Moysés; Maciel, Lea Maria Zanini; Santos, Jair Lício Ferreira; Camargo, Alceu Salles; Passador, Cláudia Souza; Camelo, Sílvia Helena Henriques

    2011-04-01

    This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.

  4. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

    Science.gov (United States)

    Kwan, Antonia; Abraham, Roshini S.; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K.; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E.; Bonagura, Vincent R.; Bonilla, Francisco A.; Brokopp, Charles; Brooks, Edward; Caggana, Michele; Celestin, Jocelyn; Church, Joseph A.; Comeau, Anne Marie; Connelly, James A.; Cowan, Morton J.; Cunningham-Rundles, Charlotte; Dasu, Trivikram; Dave, Nina; De La Morena, Maria T.; Duffner, Ulrich; Fong, Chin-To; Forbes, Lisa; Freedenberg, Debra; Gelfand, Erwin W.; Hale, Jaime E.; Celine Hanson, I.; Hay, Beverly N.; Hu, Diana; Infante, Anthony; Johnson, Daisy; Kapoor, Neena; Kay, Denise M.; Kohn, Donald B.; Lee, Rachel; Lehman, Heather; Lin, Zhili; Lorey, Fred; Abdel-Mageed, Aly; Manning, Adrienne; McGhee, Sean; Moore, Theodore B.; Naides, Stanley J.; Notarangelo, Luigi D.; Orange, Jordan S.; Pai, Sung-Yun; Porteus, Matthew; Rodriguez, Ray; Romberg, Neil; Routes, John; Ruehle, Mary; Rubenstein, Arye; Saavedra-Matiz, Carlos A.; Scott, Ginger; Scott, Patricia M.; Secord, Elizabeth; Seroogy, Christine; Shearer, William T.; Siegel, Subhadra; Silvers, Stacy K.; Stiehm, E. Richard; Sugerman, Robert W.; Sullivan, John L.; Tanksley, Susan; Tierce, Millard L.; Verbsky, James; Vogel, Beth; Walker, Rosalyn; Walkovich, Kelly; Walter, Jolan E.; Wasserman, Richard L.; Watson, Michael S.; Weinberg, Geoffrey A.; Weiner, Leonard B.; Wood, Heather; Yates, Anne B.; Puck, Jennifer M.

    2015-01-01

    IMPORTANCE Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births. OBJECTIVES To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments. DESIGN Epidemiological and retrospective observational study. SETTING Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test. MAIN OUTCOMES AND MEASURES Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95%CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87%(45/52), 92%(45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in

  5. The Milan Project: a newborn hearing screening programme.

    Science.gov (United States)

    Pastorino, Giancarlo; Sergi, Paola; Mastrangelo, Massimo; Ravazzani, Paolo; Tognola, Gabriella; Parazzini, Marta; Mosca, Fabio; Pugni, Lorenza; Grandori, Ferdinando

    2005-04-01

    Since 1997 a newborn hearing screening programme has been implemented by the U.O. Neurologia-Neurofisiopatologia and Dipartimento di Neonatologia of the Istituti Clinici di Perfezionamento ICP in Milan for both babies with no risk and those at risk of hearing impairment. This programme was named the Milan Project. The protocol for no-risk babies consisted of three stages: in the first two stages, newborns were tested with transient click-evoked otoacoustic emissions (TEOAE), in the third one with conventional auditory brainstem responses (ABR). The first TEOAE test was performed by 36 h of age, before discharge, the second one after 15-30 d in case of referral, and the third one, by ABR, for those babies who failed the second TEOAE stage. Newborns at audiological risk were submitted to conventional ABR before the third month of corrected age. Some of this latter population was also submitted to the TEOAE test. The entire tested population (no-risk babies and newborns at audiological risk) consisted of 19 777 babies: 19 290 without risk ("no risk") and 487 at risk ("at risk"). During the course of the Milan Project, hearing impairment (ABR threshold equal to or greater than 40 dB nHL) was identified in 63 newborns (19 from the no-risk and 44 from the at-risk population), with a prevalence of 0.32%. Bilateral hearing impairment (BHI) was found in 33 newborns (10 from the no-risk and 23 from the at-risk population), corresponding to 0.17%. Among infants with bilateral hearing impairment, 30.3% had no risk factors. The prevalence of hearing impairment was determined on days 15-30 after birth. The results show that the implementation of a hospital-based, universal neonatal hearing screening programme for babies with and without audiological risk is feasible and effective. The effectiveness of the programme has increased as a function of the years since its inception, with a strong decrease in the referral rate. Further improvement is obtained if the TEOAE measurements

  6. A Paper-Based Test for Screening Newborns for Sickle Cell Disease

    Science.gov (United States)

    Piety, Nathaniel Z.; George, Alex; Serrano, Sonia; Lanzi, Maria R.; Patel, Palka R.; Noli, Maria P.; Kahan, Silvina; Nirenberg, Damian; Camanda, João F.; Airewele, Gladstone; Shevkoplyas, Sergey S.

    2017-01-01

    The high cost, complexity and reliance on electricity, specialized equipment and supplies associated with conventional diagnostic methods limit the scope and sustainability of newborn screening for sickle cell disease (SCD) in sub-Saharan Africa and other resource-limited areas worldwide. Here we describe the development of a simple, low-cost, rapid, equipment- and electricity-free paper-based test capable of detecting sickle hemoglobin (HbS) in newborn blood samples with a limit of detection of 2% HbS. We validated this newborn paper-based test in a cohort of 159 newborns at an obstetric hospital in Cabinda, Angola. Newborn screening results using the paper-based test were compared to conventional isoelectric focusing (IEF). The test detected the presence of HbS with 81.8% sensitivity and 83.3% specificity, and identified SCD newborns with 100.0% sensitivity and 70.7% specificity. The use of the paper-based test in a two-stage newborn screening process could have excluded about 70% of all newborns from expensive confirmatory testing by IEF, without missing any of the SCD newborns in the studied cohort. This study demonstrates the potential utility of the newborn paper-based test for reducing the overall cost of screening newborns for SCD and thus increasing the practicality of universal newborn SCD screening programs in resource-limited settings. PMID:28367971

  7. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

    Science.gov (United States)

    Campbell, C D; Ganesh, J; Ficicioglu, C

    2005-12-01

    Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine. Propionylcarnitine is included in tandem mass spectrometry-based newborn screening programs for detection of certain inborn errors of metabolism. We report two asymptomatic newborns with Vitamin B12 deficiency due to maternal deficiencies. One was detected incidentally at 3 weeks of age; the second on supplemental newborn screening based on elevated Propionylcarnitine at 2 days of age. This illustrates the potential for false negative results for Vitamin B12 deficiency screening by acylcarnitine profiling in newborn screening. Homocysteine and Methylmalonic acid may be better markers of Vitamin B12 deficiency. In conclusion, we suggest measuring Methylmalonic acid, Propionylcarnitine and Homocysteine levels in blood spots in expanded newborn screening in order to detect asymptomatic newborns with Vitamin B12 deficiency. Further studies are needed to establish the sensitivity of these three markers in screening for Vitamin B12 deficiency.

  8. Maintaining Acceptably Low Referral Rates in TEOAE-Based Newborn Hearing Screening Programs.

    Science.gov (United States)

    Maxon, Antonia Brancia; White, Karl R.; Culpepper, Brandt; Vohr, Betty R.

    1997-01-01

    Describes factors that can affect the referral rate for otoacoustic emission-based newborn hearing screening and discusses the screening results of 1,328 newborns screened with transient evoked otoaoustic emissions prior to hospital discharge. The youngest infants were as likely to pass as infants who were 24-27 hours old. (Author/CR)

  9. Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.

    Science.gov (United States)

    Yao, Gen-Dong; Li, Shou-Xia; Chen, Ding-Li; Feng, Hai-Qin; Zhao, Su-Bin; Liu, Yong-Jie; Guo, Li-Li; Yang, Zhi-Ming; Zhang, Xiao-Fang; Sun, Cai-Xia; Wang, Ze-Hui; Zhang, Wei-Yong

    2014-01-01

    The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.

  10. Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.

    Science.gov (United States)

    Hayeems, Robin Z; Miller, Fiona A; Barg, Carolyn J; Bombard, Yvonne; Carroll, June C; Tam, Karen; Kerr, Elizabeth; Chakraborty, Pranesh; Potter, Beth K; Patton, Sarah; Bytautas, Jessica P; Taylor, Louise; Davies, Christine; Milburn, Jennifer; Price, April; Gonska, Tanja; Keenan, Katherine; Ratjen, Felix; Guttmann, Astrid

    2017-05-01

    To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P  .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola.

    Science.gov (United States)

    McGann, Patrick T; Ferris, Margaret G; Ramamurthy, Uma; Santos, Brigida; de Oliveira, Vysolela; Bernardino, Luis; Ware, Russell E

    2013-12-01

    Over 300,000 infants are born annually with sickle cell anemia (SCA) in sub-Saharan Africa, and >50% die young from infection or anemia, usually without diagnosis of SCA. Early identification by newborn screening (NBS), followed by simple interventions dramatically reduced the mortality of SCA in the United States, but this strategy is not yet established in Africa. We designed and implemented a proof-of-principle NBS and treatment program for SCA in Angola, with focus on capacity building and local ownership. Dried bloodspots from newborns were collected from five birthing centers. Hemoglobin identification was performed using isoelectric focusing; samples with abnormal hemoglobin patterns were analyzed by capillary electrophoresis. Infants with abnormal FS or FSC patterns were enrolled in a newborn clinic to initiate penicillin prophylaxis and receive education, pneumococcal immunization, and insecticide-treated bed nets. A total of 36,453 infants were screened with 77.31% FA, 21.03% FAS, 1.51% FS, and 0.019% FSC. A majority (54.3%) of affected infants were successfully contacted and brought to clinical care. Compliance in the newborn clinic was excellent (96.6%). Calculated first-year mortality rate for babies with SCA compares favorably to the national infant mortality rate (6.8 vs. 9.8%). The SCA burden is extremely high in Angola, but NBS is feasible. Capacity building and training provide local healthcare workers with skills needed for a functional screening program and clinic. Contact and retrieval of all affected SCA infants remains a challenge, but families are compliant with clinic appointments and treatment. Early mortality data suggest screening and early preventive care saves lives.

  12. Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.

    Science.gov (United States)

    Marble, Michael; Copeland, Sara; Khanfar, Nashat; Rosenblatt, David S

    2008-05-01

    A neonate with elevated propionylcarnitine on the newborn screen was found to have methylmalonic acidemia due to vitamin B(12) deficiency. The mother was also vitamin B(12)-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B(12) deficiency, allowing prompt treatment and prevention of potential sequelae.

  13. The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis

    NARCIS (Netherlands)

    Dijk, F. Nicole; Fitzgerald, Dominic A.

    2012-01-01

    Cystic fibrosis is a life-limiting condition which is readily diagnosed in the vast majority of cases on newborn screening [NBS]. A diagnosis made on newborn screening translates into earlier initiation of therapies, improved growth, better lung function into the adult years and culminates in better

  14. Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

    Directory of Open Access Journals (Sweden)

    Gustavo Adolfo Giraldo

    2015-07-01

    Full Text Available Introduction: Preterm infants (<37 weeks of gestation have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH in the program congenital hypothyroidism (CH newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Distrital screening protocol for CH (blood sample is collected from the umbilical cord in all the newborns remeasured the serum TSH and heel TSH when preterm infants completed 37 weeks of gestation. Results: A total of 59 preterm neonates were rescreened, of which 2 neonates had elevated levels of TSH and 1 neonate had transient hypothyroxinemia. The Kolmogorov-Smirnov 2-sample/bilateral statistical test was used to compare the neonatal TSH levels of preterm and full-term newborns, which do not follow the same distribution. Conclusion: In our pilot study, 2 of the rescreened infants presented high levels of TSH and 1 had transient hyperthyrotropinemia, suggesting the need for rescreening of preterm infants. Additionally, a larger study should be performed to determine the screening cutoff values for preterm newborns.

  15. Improving regional universal newborn hearing screening programmes in Italy.

    Science.gov (United States)

    Molini, E; Cristi, M C; Lapenna, R; Calzolaro, L; Muzzi, E; Ciciriello, E; Della Volpe, A; Orzan, E; Ricci, G

    2016-02-01

    The Universal Newborn Hearing Screening (UNHS) programme aims at achieving early detection of hearing impairment. Subsequent diagnosis and intervention should follow promptly. Within the framework of the Ministry of Health project CCM 2013 "Preventing Communication Disorders: a Regional Program for early Identification, Intervention and Care of Hearing Impaired Children", the limitations and strengths of current UNHS programs in Italy have been analysed by a group of professionals working in tertiary centres involved in regional UNHS programmes, using SWOT analysis and a subsequent TOWS matrix. Coverage and lost-to-follow up rates are issues related to UNHS programmes. Recommendations to improve the effectiveness of the UNHS programme have been identified. The need for homogeneous policies, high-quality information and dissemination of knowledge for operators and families of hearing-impaired children emerged from the discussion.

  16. A framework for key considerations regarding point-of-care screening of newborns.

    Science.gov (United States)

    Kemper, Alex R; Kus, Christopher A; Ostrander, Robert J; Comeau, Anne Marie; Boyle, Coleen A; Dougherty, Denise; Mann, Marie Y; Botkin, Jeffrey R; Green, Nancy S

    2012-12-01

    Newborn screening is performed under public health authority, with analysis carried out primarily by public health laboratories or other centralized laboratories. Increasingly, opportunities to improve infant health will arise from including screening tests that are completed at the birth centers instead of in centralized laboratories, constituting a significant shift for newborn screening. This report summarizes a framework developed by the US Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children based on a series of meetings held during 2011 and 2012. These meetings were for the purpose of evaluating whether conditions identifiable through point-of-care screening should be added to the recommended universal screening panel, and to identify key considerations for birth hospitals, public health agencies, and clinicians when point-of-care newborn screening is implemented.

  17. [Pregnant women's expectations concerning universal newborn hearing screening].

    Science.gov (United States)

    Freund, L; Hintermair, M

    2012-04-01

    To implement universal newborn hearing screening (UNHS) for maximum effectiveness, it is necessary - in addition to implementing a reliable screening procedure when testing the child - to consider psycho-social factors relevant in this context. In this respect parental estimations and expectancies play an important role. In a questionnaire survey 187 expectant mothers were asked about their knowledge and attitudes concerning UNHS, and their expectations concerning the availability of concrete support if their child were to have positive test results at the primary postnatal screening. A self-developed scale was conducted asking the mothers to make statements regarding their attitude about UNHS, possible risks (parent-child relationship, stress experiences) as well as concrete expectations concerning support (counseling, contacts with other persons concerned, informative literature). The results show that the expectant mothers in this study expressed high approval for conducting UNHS. This is comparable with results from former studies. In addition, as many as a quarter of the expectant mothers expressed worries relating to the effects on the parent-child relationship and higher parental stress levels. In nearly all areas investigated, at least half of the expectant mothers said that providing targeted support if necessary is important to help them cope sufficiently with the challenges associated with the consequences of UNHS. The results of this study demonstrate the importance of a reliable tracking system as required by the guidelines for using UNHS to detect children's hearing loss at an early stage. The data suggest that in order to use UNHS responsible, consultations should be offered immediately to affected families. This would allow parents to have psycho-social support available as the need arises to cope with the primary screening results; further, this support should help parents learn about other family-centered support services such as case management.

  18. Cost-effectiveness of Universal and Targeted Newborn Screening for Congenital Cytomegalovirus Infection.

    Science.gov (United States)

    Gantt, Soren; Dionne, Francois; Kozak, Fred K; Goshen, Oran; Goldfarb, David M; Park, Albert H; Boppana, Suresh B; Fowler, Karen

    2016-12-01

    Congenital cytomegalovirus (cCMV) infection is a major cause of childhood deafness. Most cCMV infections are not diagnosed without newborn screening, resulting in missed opportunities for directed care. To estimate the cost-effectiveness of universal and targeted newborn cCMV screening programs compared with no cCMV screening. Models were constructed using rates and outcomes from prospective cohort studies of newborn cCMV screening in US postpartum care and early hearing programs. Costs of laboratory testing, treatment, and hearing loss were drawn from Medicaid data and published estimates. The benefits of cCMV screening were assumed to come from antiviral therapy for affected newborns to reduce hearing loss and from earlier identification of hearing loss with postnatal onset. Analyses were performed from July 2014 to March 2016. Models compared universal or targeted cCMV screening of newborns with a failed hearing screen, with standard care for cCMV infection. The incremental costs of identifying 1 cCMV infection, identifying 1 case of cCMV-related hearing loss, and preventing 1 cochlear implant; the incremental reduction in cases of severe to profound hearing loss; and the differences in costs per infant screened by universal or targeted strategies under different assumptions about the effectiveness of antiviral treatment. Among all infants born in the United States, identification of 1 case of cCMV infection by universal screening was estimated to cost $2000 to $10 000; by targeted screening, $566 to $2832. The cost of identifying 1 case of hearing loss due to cCMV was as little as $27 460 by universal screening or $975 by targeted screening. Assuming a modest benefit of antiviral treatment, screening programs were estimated to reduce severe to profound hearing loss by 4.2% to 13% and result in direct costs of $10.86 per newborn screened. However, savings of up to $37.97 per newborn screened were estimated when costs related to functionality were included

  19. Newborn Hearing Screening in a Public Maternity Ward in Curitiba, Brazil: Determining Factors for Not Retesting.

    Science.gov (United States)

    Luz, Idalina; Ribas, Angela; Kozlowski, Lorena; Willig, Mariluci; Berberian, Ana Paula

    2016-10-01

    Introduction Law 12.303/10 requires hearing screening in newborns before hospital discharge to detect possible hearing problems within the first three months after birth. If the newborn fails the test or presents signs of risk for hearing loss, it must undergo a retest and monitoring during the first year of life. In practice, this often does not happen. Objective To identify, in a group of mothers of children with risk factors for hearing loss, the determining reasons for non-compliance with the auditory retest. Method This is a cross-sectional quantitative study. For data collection, we handed a semi-structured questionnaire to 60 mothers of babies at risk for hearing loss who did not attend the hearing retest after hospital discharge. The questionnaire investigated their age, education, marital status, level of knowledge about the hearing screening, and reasons for non-compliance with the retest. We compared and analyzed data using the Chi-square test at a significance level of 0.05%. Results Our study found that 63% of the respondents were unaware of the hearing screening and most did not receive guidance on testing during prenatal care; 30% of participants stated forgetting as the reason for not attending the retest. There was no significant relationship between age, education, and marital status regarding knowledge about the test and the non-compliance with the retest. Conclusion Identified as the most significant determining factors for non-compliance with the newborn hearing screening retest were the surveyed mothers' forgetting the date, and their ignorance as to the importance of retesting.

  20. Newborn Hearing Screening in a Public Maternity Ward in Curitiba, Brazil: Determining Factors for Not Retesting

    Directory of Open Access Journals (Sweden)

    Luz, Idalina

    2015-11-01

    Full Text Available Introduction Law 12.303/10 requires hearing screening in newborns before hospital discharge to detect possible hearing problems within the first three months after birth. If the newborn fails the test or presents signs of risk for hearing loss, it must undergo a retest and monitoring during the first year of life. In practice, this often does not happen. Objective To identify, in a group of mothers of children with risk factors for hearing loss, the determining reasons for non-compliance with the auditory retest. Method This is a cross-sectional quantitative study. For data collection, we handed a semi-structured questionnaire to 60 mothers of babies at risk for hearing loss who did not attend the hearing retest after hospital discharge. The questionnaire investigated their age, education, marital status, level of knowledge about the hearing screening, and reasons for non-compliance with the retest. We compared and analyzed data using the Chi-square test at a significance level of 0.05%. Results Our study found that 63% of the respondents were unaware of the hearing screening and most did not receive guidance on testing during prenatal care; 30% of participants stated forgetting as the reason for not attending the retest. There was no significant relationship between age, education, and marital status regarding knowledge about the test and the non-compliance with the retest. Conclusion Identified as the most significant determining factors for non-compliance with the newborn hearing screening retest were the surveyed mothers' forgetting the date, and their ignorance as to the importance of retesting.

  1. Expanded newborn screening by mass spectrometry: New tests, future perspectives.

    Science.gov (United States)

    Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo

    2016-01-01

    Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide. Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy. The new challenge for the future will be reducing the false positive rate by using second-tier tests, avoiding false negative results by using new specific biomarkers and introducing new treatable disorders in NBS programs.

  2. No more tears? Maternal involvement during the newborn screening examination.

    LENUS (Irish Health Repository)

    Ganda, Augustine Josie

    2012-01-31

    BACKGROUND: Babies often show signs of discomfort and distress by crying during the neonatal screening examination (NSE). The authors hypothesized that supporting the baby with maternal participation may reduce infant crying during NSE. The objective of this study was to document incidental infant crying during NSE, before and after training residents, on maternal involvement and infant comfort techniques to help. METHODS: A total of 20 NSEs of normal newborn babies by pediatric residents were observed (video-recorded) following informed consent of the doctor and the baby\\'s mother. The examining doctors were then taught how to use maternal participation and developmental care (MPDC) comfort techniques to support the baby during NSE. Mothers were shown how to focus on their baby\\'s needs by supporting the baby\\'s head (preventing atonic neck reflexes) and, if necessary, providing nonnutritive sucking to the baby and an encouraging, repetitive low-tone voices to sooth the baby. A further 14 NSEs on different babies were video-recorded using these techniques. The video recordings were analyzed by independent observers for total length of crying and duration of crying during specific components of the NSE. Mothers in both groups were given a questionnaire to assess their opinions of the NSE. RESULTS: The median length of crying was significantly longer in the pre-MPDC group (93.5 seconds; range 0-198 seconds) compared with the post-MPDC infants (0 seconds; range 0-123 seconds; P = .001). Only 1 of 20 infants in the pre-MPDC did not cry during NSE compared with 8 of 14 babies in the post-MPDC group. CONCLUSION: Newborn infants cry less and mothers were more satisfied with NSEs when shown simple support and comfort techniques for their babies.

  3. Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education.

    Science.gov (United States)

    Padilla, Carmencita David; Therrell, Bradford L

    2012-01-01

    Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating newborn screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable newborn screening systems. There are currently more developing programs than developed programs within the region. Newborn screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world's births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30-April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4-5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less newborn screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It

  4. The Dried Bloodspot: Newborn Screening Research Saving the Lives of Babies

    Science.gov (United States)

    Levy-Fisch, Jill; Gartzke, Micki; Leight, Kelly

    2010-01-01

    Newborn screening is a test done on every child born in the US shortly after birth to detect diseases where, if not diagnosed and treated in the newborn period, the child will suffer significant trauma, disability or die. A few drops of blood from each baby's heel is put on a card and sent to the state's public health lab for testing. Most states…

  5. Enhanced interpretation of newborn screening results without analyte cutoff values.

    Science.gov (United States)

    Marquardt, Gregg; Currier, Robert; McHugh, David M S; Gavrilov, Dimitar; Magera, Mark J; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Smith, Emily H; Tortorelli, Silvia; Turgeon, Coleman T; Lorey, Fred; Wilcken, Bridget; Wiley, Veronica; Greed, Lawrence C; Lewis, Barry; Boemer, François; Schoos, Roland; Marie, Sandrine; Vincent, Marie-Françoise; Sica, Yuri Cleverthon; Domingos, Mouseline Torquado; Al-Thihli, Khalid; Sinclair, Graham; Al-Dirbashi, Osama Y; Chakraborty, Pranesh; Dymerski, Mark; Porter, Cory; Manning, Adrienne; Seashore, Margretta R; Quesada, Jonessy; Reuben, Alejandra; Chrastina, Petr; Hornik, Petr; Atef Mandour, Iman; Atty Sharaf, Sahar Abdel; Bodamer, Olaf; Dy, Bonifacio; Torres, Jasmin; Zori, Roberto; Cheillan, David; Vianey-Saban, Christine; Ludvigson, David; Stembridge, Adrya; Bonham, Jim; Downing, Melanie; Dotsikas, Yannis; Loukas, Yannis L; Papakonstantinou, Vagelis; Zacharioudakis, Georgios S A; Baráth, Ákos; Karg, Eszter; Franzson, Leifur; Jonsson, Jon J; Breen, Nancy N; Lesko, Barbara G; Berberich, Stanton L; Turner, Kimberley; Ruoppolo, Margherita; Scolamiero, Emanuela; Antonozzi, Italo; Carducci, Claudia; Caruso, Ubaldo; Cassanello, Michela; la Marca, Giancarlo; Pasquini, Elisabetta; Di Gangi, Iole Maria; Giordano, Giuseppe; Camilot, Marta; Teofoli, Francesca; Manos, Shawn M; Peterson, Colleen K; Mayfield Gibson, Stephanie K; Sevier, Darrin W; Lee, Soo-Youn; Park, Hyung-Doo; Khneisser, Issam; Browning, Phaidra; Gulamali-Majid, Fizza; Watson, Michael S; Eaton, Roger B; Sahai, Inderneel; Ruiz, Consuelo; Torres, Rosario; Seeterlin, Mary A; Stanley, Eleanor L; Hietala, Amy; McCann, Mark; Campbell, Carlene; Hopkins, Patrick V; de Sain-Van der Velden, Monique G; Elvers, Bert; Morrissey, Mark A; Sunny, Sherlykutty; Knoll, Detlef; Webster, Dianne; Frazier, Dianne M; McClure, Julie D; Sesser, David E; Willis, Sharon A; Rocha, Hugo; Vilarinho, Laura; John, Catharine; Lim, James; Caldwell, S Graham; Tomashitis, Kathy; Castiñeiras Ramos, Daisy E; Cocho de Juan, Jose Angel; Rueda Fernández, Inmaculada; Yahyaoui Macías, Raquel; Egea-Mellado, José María; González-Gallego, Inmaculada; Delgado Pecellin, Carmen; García-Valdecasas Bermejo, Maria Sierra; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Childs, Thomas; McKeever, Christine D; Tanyalcin, Tijen; Abdulrahman, Mahera; Queijo, Cecilia; Lemes, Aída; Davis, Tim; Hoffman, William; Baker, Mei; Hoffman, Gary L

    2012-07-01

    To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%.

  6. Mass spectrometry in clinical chemistry: the case of newborn screening.

    Science.gov (United States)

    la Marca, Giancarlo

    2014-12-01

    Newborn screening (NBS) program is a complex and organized system consisting of family and personnel education, biochemical tests, confirmatory biochemical and genetic tests, diagnosis, therapy, and patient follow up. The program identifies treatable metabolic disorders possibly when asymptomatic by using dried blood spot (DBS). During the last 20 years tandem mass spectrometry (TMS) has become the leading technology in NBS programs demonstrating to be versatile, sensitive and specific. There is consistent evidence of benefits from NBS for many disorders detected by TMS as well as for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia by immune-enzymatic methods. Real time PCR tests have more recently been proposed for the detection of some severe combined immunodeficiences (SCID) along with the use of TMS for ADA and PNP SCID; a first evaluation of their cost-benefit ratio is still ongoing. Avoiding false negative results by using specific biomarkers and reducing the false positive rate by using second tier tests, is fundamental for a successful NBS program. The fully integration of NBS and diagnostic laboratories with clinical service is crucial to have the best effectiveness in a comprehensive NBS system.

  7. Pulse oximetry for screening critical congenital heart disease in newborns

    Institute of Scientific and Technical Information of China (English)

    CHEN Cui-ying; WU Shu-yan; YOU Ke-li; CHEN Guan-di; LI Zhi-gang

    2016-01-01

    Background Pulse oximetry screening (POS) has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease (CCHD).However,most neonates are discharged from the hospital without this evaluation in China.This study aimed at assessing the feasibility of POS for newborns in detecting CCHD in the department of obstetrics and neonatal intensive care unit (NICU).Methods POS was performed in 355 neonates born in the department of obstetrics or admitted to the NICU between January 2015 and June 2015.These neonates were divided into normal group,mild congenital heart disease group (MCHD) and CCHD group,according to the result of echocardiography or computerized tomography (CT).The gestational age,birth weight and arterial oxygen saturation (SpO2) were compared among the three groups.The SpO2 value and diagnosis time of the CCHD cases were classified and analyzed.Results The premature birth and low birth weight were the high risk factors of mild congenital heart disease.There was no difference (P > 0.05) in SpO2 between the MCHD group and the normal group.Significant difference in the SpO2 appeared between the CCHD group and the normal group (P < 0.05).Combination of POS and clinical examination can reduce the missing diagnosis rate in screening for CCHD.Conclusions POS incurs very low cost and risk of harm and is not required for special gaining,therefore,an effective way to identify CCHD in neonates.

  8. History and current status of newborn screening for severe combined immunodeficiency.

    Science.gov (United States)

    Kwan, Antonia; Puck, Jennifer M

    2015-04-01

    The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymptomatic, permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and it is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions.

  9. History and Current Status of Newborn Screening for Severe Combined Immunodeficiency

    Science.gov (United States)

    Kwan, Antonia; Puck, Jennifer M.

    2015-01-01

    The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period while asymptomatic permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions. PMID:25937517

  10. TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease : A Systematic Review

    NARCIS (Netherlands)

    van der Spek, Jet; Groenwold, Rolf H. H.; van der Burg, Mirjam; van Montfrans, JM

    2015-01-01

    Background Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). In recent years, different screening algorithms for TREC based SCID screening were reported. Purp

  11. Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

    OpenAIRE

    Ahrens-Nicklas, Rebecca C.; Serdaroglu, Esra; Muraresku, Colleen; Ficicioglu, Can

    2015-01-01

    Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to have CblC disease who initially presented with low carnitine and normal propionylcarnitine (C3) levels on newborn screen. Newborn screening likely failed to detect CblC in this patient because of b...

  12. Galactosemia: when is it a newborn screening emergency?

    Science.gov (United States)

    Berry, Gerard T

    2012-05-01

    Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. Upon consumption of lactose in the neonatal period, the affected infants develop a potentially lethal disease process with multiorgan involvement. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. After ascertainment that the positive NBS indicates the possibility of galactosemia due to GALT deficiency, the critical question for the physician is whether the infant has the classic or a variant form of GALT deficiency, as classic galactosemia is a medical emergency. However, there are over 230 GALT gene mutations that have been detected around the world. Yet, most positive NBS tests are due to the Duarte biochemical variant condition or a simple false positive. In order to make the correct decision as well as provide informative counseling to parents of infants with a positive NBS, I utilize a relatively simple classification scheme for GALT deficiency. There are three basic forms of GALT deficiency: 1) classic galactosemia; 2) clinical variant galactosemia; and 3) biochemical variant galactosemia. The classic genotype is typified by Q188R/Q188R, the clinical variant by S135L/S135L and the biochemical variant by N314D/Q188R. In classic galactosemia, the erythrocyte GALT enzyme activity is absent or markedly reduced, the blood galactose and erythrocyte galactose-1-phosphate levels are markedly elevated, and the patient is at risk to develop potentially lethal E. coli sepsis, as well as the long-term diet-independent complications of galactosemia. Patients with the clinical variant form require treatment but do not die from E. coli sepsis in the neonatal period

  13. Review of current international decision-making processes for newborn screening: lessons for Australia

    Directory of Open Access Journals (Sweden)

    Selina Carolyne Metternick-Jones

    2015-09-01

    Full Text Available Newborn bloodspot screening has been operating successfully in Australia for almost 50 years. Recently, the development of new technologies and treatments has led to calls for the addition of new conditions to the screening programs. Internationally it is recognized by governments that national policies for newborn screening should support transparent and evidence-based decision-making, and promote consistency between states within a country. Australia is lagging behind the international community, and currently has no national policies or decision-making processes, agreed by government, to support its newborn screening programs. In contrast, New Zealand (NZ, the United Kingdom (UK and the United States of America (US have robust and transparent processes to assess conditions for screening, which have been developed by, and have pathways to, government. This review provides detail on the current policy environment for newborn screening in Australia, highlighting that there are a number of risks to the programs resulting from the lack of a decision-making process. It also describes the processes used to assess conditions for newborn screening in the US, UK and NZ. These examples highlight the benefits of developing a national decision-making process, including ensuring that screening is evidence based and effective. These examples also provide models that might

  14. Particle Collection Efficiency for Nylon Mesh Screens

    OpenAIRE

    Cena, Lorenzo G.; Ku, Bon-Ki; Peters, Thomas M.

    2011-01-01

    Mesh screens composed of nylon fibers leave minimal residual ash and produce no significant spectral interference when ashed for spectrometric examination. These characteristics make nylon mesh screens attractive as a collection substrate for nanoparticles. A theoretical single-fiber efficiency expression developed for wire-mesh screens was evaluated for estimating the collection efficiency of submicrometer particles for nylon mesh screens. Pressure drop across the screens, the effect of part...

  15. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  16. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening

    DEFF Research Database (Denmark)

    Lund, Allan Meldgaard; Hougaard, David Michael; Simonsen, Henrik

    2012-01-01

    months (range 2109months). There were no deaths among the 102 children, and 94% had no clinically significant sequelae at last follow-up. Our study confirms the higher frequency of selected IEM after implementation of expanded newborn screening and suggests an improved outcome for several disorders. We...

  17. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

    Directory of Open Access Journals (Sweden)

    Ernesto Carlos González Reyes PhD

    2016-07-01

    Full Text Available The ultramicroanalytic system (SUMA, created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs for metabolic and endocrine disorders in Cuba. This article summarizes the main results of the implementation during the 30 years of SUMA technology in NSP for 5 inherited metabolic diseases, using ultramicroassays developed at the Department of Newborn Screening at the Immunoassay Center. Since 1986, SUMA technology has been used in the Cuban NSP for congenital hypothyroidism, initially studying thyroid hormone in cord serum samples. In 2000, a decentralized program for the detection of hyperphenylalaninemias using heel dried blood samples was initiated. These successful experiences permitted including protocols for screening congenital adrenal hyperplasia, galactosemia, and biotinidase deficiency in 2005. A program for the newborn screening of CH using the thyroid-stimulating hormone Neonatal ultramicro-ELISA was fully implemented in 2010. Nowadays, the NSP is supported by a network of 175 SUMA laboratories. After 30 years, more than 3.8 million Cuban newborns have been screened, and 1002 affected children have been detected. Moreover, SUMA technology has been presented in Latin America for over 2 decades and has contributed to screen around 17 million newborns. These results prove that developing countries can develop appropriate diagnostic technologies for making health care accessible to all.

  18. Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

    Directory of Open Access Journals (Sweden)

    Heydy Bravo

    2017-09-01

    Full Text Available Lysosomal storage diseases (LSDs are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies, Pompe disease and Gaucher disease (one baby each. One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.

  19. CDC’s Newborn Screening Program - Role of Laboratories

    Centers for Disease Control (CDC) Podcasts

    2013-09-03

    When newborn screening started in the U.S. 50 years ago, many questioned whether it was even possible to test every baby born in every state. Today, all states screen babies for at least 29 disorders that can be detected through laboratory testing. In this podcast, Dr. Carla Cuthbert talks about CDC’s Newborn Screening Quality Assurance Program and the role laboratories play in keeping babies healthy.  Created: 9/3/2013 by National Center for Environmental Health (NCEH).   Date Released: 9/3/2013.

  20. Newborn screening for critical congenital heart disease: potential roles of birth defects surveillance programs--United States, 2010-2011.

    Science.gov (United States)

    2012-10-26

    In September 2011, the Secretary of the U.S. Department of Health and Human Services (HHS) approved the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) 2010 recommendation that all newborns be screened for critical congenital heart disease (CCHD) using pulse oximetry, a noninvasive test of blood oxygenation, to prevent mortality and morbidity. CDC partnered with the National Birth Defects Prevention Network (NBDPN) to conduct a survey designed to assess state birth defect surveillance programs' potential roles, capabilities, and readiness to assist with newborn screening activities for CCHD. States were surveyed in November 2010, after the initial SACHDNC recommendation, and again in November 2011, after the Secretary's approval. From 2010 to 2011, the number of birth defects surveillance programs involved in CCHD screening increased from one to 10. Barriers exist, such as the lack of legislative authority, staffing, funding, and informatics infrastructure. Sixty-seven percent of programs take an average of more than 12 months to collect complete data on birth defect cases, including congenital heart defects. An assessment of state birth defects programs' existing data and capability to lead the evaluation of screening for CCHD is warranted.

  1. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

    NARCIS (Netherlands)

    Ploeg, C.P.B. van der; Akker-van Marle, M.E. van den; Vernooij-van Langen, A.M.M.; Elvers, L.H.; Gille, J.J.P.; Verkerk, P.H.; Dankert-Roelse, J.E.; Loeber, J.G.; Triepels, R.H.; Pal, S.M. van der; Dompeling, E.; Pals, G.; Gulmans, V.A.M.; Oey-Spauwen, M.J.W.; Wijnands, Y.H.H.M.; Castricum, L.M.; Arets, H.G.M.; Ent, C.K. van der; Tiddens, H.A.W.M.; Rijke, Y.B. de; Yntema, J.B.

    2015-01-01

    BACKGROUND: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. METHODS: We used primary data to compare cost-effectiveness of four screening strategie

  2. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

    NARCIS (Netherlands)

    van der Ploeg, C. P B; van den Akker-van Marle, M. E.; Vernooij-van Langen, A. M M; Elvers, L. H.; Gille, J. J P; Verkerk, P. H.; Dankert-Roelse, J. E.; Dankert-Roelse, J. E.; Vernooij-van Langen, A. M M; Loeber, J. G.; Elvers, L. H.; Triepels, R. H.; Gille, J. J P; Van der Ploeg, C. P B; van der Pal, S. M.; Dompeling, E.; Pals, G.; van den Akker van Marle, M. E.; Gulmans, V. A M; Oey-Spauwen, M. J W; Wijnands, Y. H H M; Castricum, L. M.; Arets, H. G M; van der Ent, C. K.; Tiddens, H. A W M; de Rijke, Y. B.; Yntema, J. B.

    2015-01-01

    Background: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. Methods: We used primary data to compare cost-effectiveness of four screening strategie

  3. First Colombian Multicentric Newborn Screening for Congenital Toxoplasmosis

    Science.gov (United States)

    Gómez-Marin, Jorge Enrique; de-la-Torre, Alejandra; Angel-Muller, Edith; Rubio, Jorge; Arenas, Jaime; Osorio, Elkin; Nuñez, Lilian; Pinzon, Lyda; Mendez-Cordoba, Luis Carlos; Bustos, Agustin; de-la-Hoz, Isabel; Silva, Pedro; Beltran, Monica; Chacon, Leonor; Marrugo, Martha; Manjarres, Cristina; Baquero, Hernando; Lora, Fabiana; Torres, Elizabeth; Zuluaga, Oscar Elias; Estrada, Monica; Moscote, Lacides; Silva, Myriam Teresa; Rivera, Raul; Molina, Angie; Najera, Shirley; Sanabria, Antonio; Ramirez, Maria Luisa; Alarcon, Claudia; Restrepo, Natalia; Falla, Alejandra; Rodriguez, Tailandia; Castaño, Giovanny

    2011-01-01

    Aims To determine the incidence of congenital toxoplasmosis in Colombian newborns from 19 hospital or maternal child health services from seven different cities of five natural geographic regions (Caribbean, Central, Andean, Amazonia and Eastern). Materials and Methods We collected 15,333 samples from umbilical cord blood between the period of March 2009 to May 2010 in 19 different hospitals and maternal-child health services from seven different cities. We applied an IgM ELISA assay (Vircell, Spain) to determine the frequency of IgM anti Toxoplasma. The results in blood cord samples were confirmed either by western blot and repeated ELISA IgM assay. In a sub-sample of 1,613 children that were negative by the anti-Toxoplasma IgM assay, the frequency of specific anti-Toxoplasma IgA by the ISAGA assay was determined. All children with positive samples by IgM, IgA, clinical diagnosis or treatment during pregnancy were recalled for confirmatory tests after day 10 of life. Results 61 positive samples for specific IgM (0.39%) and 9 positives for IgA (0.5%) were found. 143 questionnaires were positive for a clinical diagnosis or treatment for toxoplasmosis during pregnancy. 109 out of the 218 children that had some of the criteria for postnatal confirmatory tests were followed. Congenital toxoplasmosis infection was confirmed in 15 children: 7 were symptomatic, and three of them died before the first month of life (20% of lethality). A significant correlation was found between a high incidence of markers for congenital toxoplasmosis and higher mean annual rainfall for the city. Conclusions Incidence for congenital toxoplasmosis is significantly different between hospitals or maternal child health services from different cities in Colombia. Mean annual rainfall was correlated with incidence of congenital toxoplasmosis. PMID:21655304

  4. First Colombian multicentric newborn screening for congenital toxoplasmosis.

    Directory of Open Access Journals (Sweden)

    Jorge Enrique Gómez-Marin

    Full Text Available AIMS: To determine the incidence of congenital toxoplasmosis in Colombian newborns from 19 hospital or maternal child health services from seven different cities of five natural geographic regions (Caribbean, Central, Andean, Amazonia and Eastern. MATERIALS AND METHODS: We collected 15,333 samples from umbilical cord blood between the period of March 2009 to May 2010 in 19 different hospitals and maternal-child health services from seven different cities. We applied an IgM ELISA assay (Vircell, Spain to determine the frequency of IgM anti Toxoplasma. The results in blood cord samples were confirmed either by western blot and repeated ELISA IgM assay. In a sub-sample of 1,613 children that were negative by the anti-Toxoplasma IgM assay, the frequency of specific anti-Toxoplasma IgA by the ISAGA assay was determined. All children with positive samples by IgM, IgA, clinical diagnosis or treatment during pregnancy were recalled for confirmatory tests after day 10 of life. RESULTS: 61 positive samples for specific IgM (0.39% and 9 positives for IgA (0.5% were found. 143 questionnaires were positive for a clinical diagnosis or treatment for toxoplasmosis during pregnancy. 109 out of the 218 children that had some of the criteria for postnatal confirmatory tests were followed. Congenital toxoplasmosis infection was confirmed in 15 children: 7 were symptomatic, and three of them died before the first month of life (20% of lethality. A significant correlation was found between a high incidence of markers for congenital toxoplasmosis and higher mean annual rainfall for the city. CONCLUSIONS: Incidence for congenital toxoplasmosis is significantly different between hospitals or maternal child health services from different cities in Colombia. Mean annual rainfall was correlated with incidence of congenital toxoplasmosis.

  5. Expanded newborn screening in the Health Services of the Mexican Navy

    Directory of Open Access Journals (Sweden)

    Max Trigo-Madrid

    2014-11-01

    Full Text Available In Mexico the birth prevalence of the metabolic diseases detected by expanded newborn screening is poorly known and there is little information about its performance indicators.Objective. Describe the birth prevalence of the metabolic defects detected by the expanded newborn screening program implemented in the Mexican Navy (Secretaría de Marina Armada de México, SEMAR, and to make known some of its performance indicators. Materials and Methods. A blood sample of 5 205 newborns from 18 Mexican states were taken. The age at blood sampling, the proportion of samples taken between the 3rd and the 5th days of life, and the time of results delivery were analyzed. The number and type of detected metabolic diseases, as well as the maternal age and body mass index, the type of birth, the gestational age and weight of the newborns were analized. Results. The age at blood sampling was 4.7 days and 81.15 percent of the samples were obtained in optimal time. Two cases of congenital hypothyroidism (3.8/10 000 newborns, one of adrenal congenital hyperplasia (1.9/10 000 newborns and five cases of deficiency of glucose- 6-phosphate dehydrogenase (9.6/10 000 newborns were detected. The 85.6% of mothers had pregnancies at an optimal reproductive age (20-35 years, but overweight and obesity occurred in 44.7% of them. Conclusions. In this analyzed population, the birth prevalence of metabolic defects was 15.37/10 000 newborns. The expanded newborn screening program allowed its identification and timely treatment, with the aim of preventing disability and death.

  6. Newborn Screening for Hermansky-Pudlak Syndrome Type 3 in Puerto Rico

    Science.gov (United States)

    Serrant, Maribel Torres; Ramirez, Sonia I; Cadilla, Carmen L; Ramos-Valencia, Gilberto

    2013-01-01

    Background Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages1. Patients that are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery. Objective To determine the prevalence of HPS-3 in Puerto Rican newborns using DNA pooling technique. Design/Methods Twelve percent of annual Puerto Rican births were tested randomly by PCR for the HPS-3 mutation, using pooled DNA extracted from dried blood samples. Results HPS-3 mutation was detected in 75 samples. Two newborns were found to be homozygous. Carrier frequency was 1:85 (1.18%). Conclusions The HPS-3 carrier frequency found (1.18%) justifies universal newborn screening in Puerto Rico. DNA pooling reduces time and labor in newborn screening thus facilitating early diagnosis and treatment of children with HPS-3 and the provision of genetic counseling to parents and relatives. PMID:20562649

  7. Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

    Directory of Open Access Journals (Sweden)

    Consuelo Cantú-Reyna MD

    2016-09-01

    Full Text Available Newborn screening for the detection of inborn errors of metabolism (IEM, endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico, from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns’ results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders. The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency; and in the case of carriers, it was hemoglobinopathies. The benefit of the ENS is clear as it offers prompt treatment on the basis of an early diagnosis including proper genetic counseling. Furthermore, these results provide a good estimation of the frequencies of different forms of newborn IEM, endocrinopathies, hemoglobinopathies, and other disorders at Ginequito.

  8. Capillary electrophoresis and mass spectrometry for screening of metabolic disorders in newborns.

    Science.gov (United States)

    Senk, Petr; Kozák, Libor; Foret, Frantisek

    2004-06-01

    Clinical analyses always represent a challenge for the sensitivity and selectivity of the analytical techniques. Of the most critical are the techniques required for the quick determination of the disease state and application of the proper treatment in newborns. This short critical review overviews the present state of the art of the use of mass spectrometry and capillary electrophoresis for screening of metabolic disorders in newborns.

  9. Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

    Directory of Open Access Journals (Sweden)

    Consuelo Cantú-Reyna MD

    2016-09-01

    Full Text Available Newborn screening for the detection of inborn errors of metabolism (IEM, endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico, from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns’ results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders. The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency; and in the case of carriers, it was hemoglobinopathies. The benefit of the ENS is clear as it offers prompt treatment on the basis of an early diagnosis including proper genetic counseling. Furthermore, these results provide a good estimation of the frequencies of different forms of newborn IEM, endocrinopathies, hemoglobinopathies, and other disorders at Ginequito.

  10. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.

    Science.gov (United States)

    Kemper, Alex R; Brosco, Jeffrey; Comeau, Anne Marie; Green, Nancy S; Grosse, Scott D; Jones, Elizabeth; Kwon, Jennifer M; Lam, Wendy K K; Ojodu, Jelili; Prosser, Lisa A; Tanksley, Susan

    2017-01-01

    The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med 19 1, 121-126.

  11. The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.

    Science.gov (United States)

    Grosse, Scott D; Thompson, John D; Ding, Yao; Glass, Michael

    2016-06-01

    Newborn screening not only saves lives but can also yield net societal economic benefit, in addition to benefits such as improved quality of life to affected individuals and families. Calculations of net economic benefit from newborn screening include the monetary equivalent of avoided deaths and reductions in costs of care for complications associated with late-diagnosed individuals minus the additional costs of screening, diagnosis, and treatment associated with prompt diagnosis. Since 2001 the Washington State Department of Health has successfully implemented an approach to conducting evidence-based economic evaluations of disorders proposed for addition to the state-mandated newborn screening panel. Economic evaluations can inform policy decisions on the expansion of newborn screening panels. This article documents the use of cost-benefit models in Washington State as part of the rule-making process that resulted in the implementation of screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and 4 other metabolic disorders in 2004, cystic fibrosis (CF) in 2006, 15 other metabolic disorders in 2008, and severe combined immune deficiency (SCID) in 2014. We reviewed Washington State Department of Health internal reports and spreadsheet models of expected net societal benefit of adding disorders to the state newborn screening panel. We summarize the assumptions and findings for 2 models (MCAD and CF) and discuss them in relation to findings in the peer-reviewed literature. The MCAD model projected a benefit-cost ratio of 3.4 to 1 based on assumptions of a 20.0 percentage point reduction in infant mortality and a 13.9 percentage point reduction in serious developmental disability. The CF model projected a benefit-cost ratio of 4.0-5.4 to 1 for a discount rate of 3%-4% and a plausible range of 1-2 percentage point reductions in deaths up to age 10 years. The Washington State cost-benefit models of newborn screening were broadly consistent with peer

  12. Two-Way Radio Modem Data Transfer for Newborn Hearing Screening Devices.

    Science.gov (United States)

    Matulat, Peter; Lepper, Ingo; Böttcher, Peter; Parfitt, Ross; Oswald, Hans; Am Zehnhoff-Dinnesen, Antoinette; Deuster, Dirk

    2017-01-01

    The success of a newborn hearing screening program depends on successful tracking and follow-up to ensure that children who have had positive screening results in the first few days of life receive appropriate and timely diagnostic and intervention services. The easy availability, through a suitable infrastructure, of the data necessary for the tracking, diagnosis, and care of children concerned is a major key to enhancing the quality and efficiency of newborn hearing screening programs. Two systems for the automated two-way transmission of newborn hearing screening and configuration data, based on mobile communication technology, for the screening devices MADSEN AccuScreen(®) and Natus Echo-Screen(®) were developed and tested in a field study. Radio modem connections were compared with conventional analogue modem transmissions from Natus Echo-Screen devices for duration, transmission rate, number of lost connections, and frequency of use. The average session duration was significantly lower with the MADSEN AccuScreen (12 s) and Natus Echo-Screen both with radio modem (15 s) than the Natus Echo-Screen with analogue modem (108 s). The transmission rate was significantly higher (898 and 1,758 vs. 181 bytes/s) for the devices with radio modems. Both radio modem devices had significantly lower rates of broken connections after initial connection (2.1 and 0.9 vs. 5.5%). An increase in the frequency of data transmission from the clinics with mobile radio devices was found. The use of mobile communication technology in newborn hearing screening devices offers improvements in the average session duration, transmission rate, and reliability of the connection over analogue solutions. We observed a behavioral change in clinical staff using the new technology: the data exchange with the tracking center is more often used. The requirements for on-site support were reduced. These savings outweigh the small increase in costs for the Internet service provider.

  13. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD by newborn screening ontario

    Directory of Open Access Journals (Sweden)

    Fisher Lawrence

    2010-11-01

    Full Text Available Abstract Background Medium chain acyl-CoA dehydrogenase deficiency (MCADD is a disorder of mitochondrial fatty acid oxidation and is one of the most common inborn errors of metabolism. Identification of MCADD via newborn screening permits the introduction of interventions that can significantly reduce associated morbidity and mortality. This study reports on the first three years of newborn screening for MCADD in Ontario, Canada. Methods Newborn Screening Ontario began screening for MCADD in April 2006, by quantification of acylcarnitines (primarily octanoylcarnitine, C8 in dried blood spots using tandem mass spectrometry. Babies with positive screening results were referred to physicians at one of five regional Newborn Screening Treatment Centres, who were responsible for diagnostic evaluation and follow-up care. Results From April 2006 through March 2009, approximately 439 000 infants were screened for MCADD in Ontario. Seventy-four infants screened positive, with a median C8 level of 0.68 uM (range 0.33-30.41 uM. Thirty-one of the screen positive infants have been confirmed to have MCADD, while 36 have been confirmed to be unaffected. Screening C8 levels were higher among infants with MCADD (median 8.93 uM compared to those with false positive results (median 0.47 uM. Molecular testing was available for 29 confirmed cases of MCADD, 15 of whom were homozygous for the common c.985A > G mutation. Infants homozygous for the common mutation tended to have higher C8 levels (median 12.13 uM relative to compound heterozygotes for c.985A > G and a second detectable mutation (median 2.01 uM. Eight confirmed mutation carriers were identified among infants in the false positive group. The positive predictive value of a screen positive for MCADD was 46%. The estimated birth prevalence of MCADD in Ontario is approximately 1 in 14 000. Conclusions The birth prevalence of MCADD and positive predictive value of the screening test were similar to those

  14. The case for newborn screening for severe combined immunodeficiency and related disorders

    Science.gov (United States)

    Puck, Jennifer M.

    2015-01-01

    Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment. PMID:22236435

  15. The case for newborn screening for severe combined immunodeficiency and related disorders.

    Science.gov (United States)

    Puck, Jennifer M

    2011-12-01

    Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment.

  16. Particle Collection Efficiency for Nylon Mesh Screens.

    Science.gov (United States)

    Cena, Lorenzo G; Ku, Bon-Ki; Peters, Thomas M

    Mesh screens composed of nylon fibers leave minimal residual ash and produce no significant spectral interference when ashed for spectrometric examination. These characteristics make nylon mesh screens attractive as a collection substrate for nanoparticles. A theoretical single-fiber efficiency expression developed for wire-mesh screens was evaluated for estimating the collection efficiency of submicrometer particles for nylon mesh screens. Pressure drop across the screens, the effect of particle morphology (spherical and highly fractal) on collection efficiency and single-fiber efficiency were evaluated experimentally for three pore sizes (60, 100 and 180 μm) at three flow rates (2.5, 4 and 6 Lpm). The pressure drop across the screens was found to increase linearly with superficial velocity. The collection efficiency of the screens was found to vary by less than 4% regardless of particle morphology. Single-fiber efficiency calculated from experimental data was in good agreement with that estimated from theory for particles between 40 and 150 nm but deviated from theory for particles outside this size range. New coefficients for the single-fiber efficiency model were identified that minimized the sum of square error (SSE) between the values estimated with the model and those determined experimentally. Compared to the original theory, the SSE calculated using the modified theory was at least one order of magnitude lower for all screens and flow rates with the exception of the 60-μm pore screens at 2.5 Lpm, where the decrease was threefold.

  17. Levels of Evidence: Universal Newborn Hearing Screening (UNHS) and Early Hearing Detection and Intervention Systems (EHDI)

    Science.gov (United States)

    Yoshinaga-Itano, Christine

    2004-01-01

    Levels of evidence differ according to the audience addressed. Implementation of universal newborn hearing screening requires responses to a complex myriad of diverse groups: the general public, families with children who are deaf or hard of hearing, the deaf and hard of hearing communities, hospital administrators, physicians (pediatricians,…

  18. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

    Science.gov (United States)

    la Marca, Giancarlo; Giocaliere, Elisa; Malvagia, Sabrina; Funghini, Silvia; Ombrone, Daniela; Della Bona, Maria Luisa; Canessa, Clementina; Lippi, Francesca; Romano, Francesca; Guerrini, Renzo; Resti, Massimo; Azzari, Chiara

    2014-01-01

    Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine <0.09μmol/L, adenosine <1.61μmol/L). We also developed a second tier test to distinguish true positives from false positives and improve the positive predictive value of an initial abnormal result. In the first 18 months, the pilot project has identified a newborn with a genetically confirmed defect in adenosine deaminase (ADA) gene. The results show that the method having great simplicity, low cost and low process preparations can be fully applicable to a mass screening program.

  19. The value of ultrasonography as a screening procedure for congenital dysplasia of the hip in newborn

    NARCIS (Netherlands)

    R.M. Castelein

    1989-01-01

    textabstractIn the present investigation the additional value of ultrasound screening of newborns for congenital dysplasia of the hip, over routine clinical examination was studied. The main question that has led to this prospective study was, whether neonatal ultrasonography could detect cases

  20. The influence of newborn hearing screening on the age at cochlear implantation in children

    NARCIS (Netherlands)

    Lammers, Marc J W; Jansen, Thijs T G; Grolman, Wilko; Lenarz, Thomas; Versnel, Huib; Van Zanten, Gijsbert A.; Topsakal, Vedat; Lesinski-Schiedat, Anke

    2015-01-01

    Objectives/Hypothesis To evaluate the influence of the introduction of newborn hearing screening programs on the age at cochlear implantation in children. Study Design Retrospective, multicenter cohort study. Methods All 1,299 pediatric cochlear implant users who received their implants before the a

  1. Initial results from the newborn hearing screening programme in Ireland.

    LENUS (Irish Health Repository)

    O'Connor, A

    2013-03-02

    INTRODUCTION: Hearing screening programmes aim to detect hearing loss in the neonate. The Health Service Executive (HSE) South was the first phase of a national roll-out of a neonatal hearing screening programme in Ireland, going live on 28 April 2011. RESULTS: Over 11,738 babies have been screened for permanent childhood hearing impairment (PCHI) during the first 12 months. The percentage of eligible babies offered hearing screening was 99.2 %. Only 0.2 % (n = 25) of those offered screening declined. 493 (4 %) were referred for immediate diagnostic audiological assessment. The average time between screen and diagnostic audiology appointment was 2 weeks. 15 (1.3\\/1,000) babies have been identified with a PCHI over the 12-month period. 946 (4 %) babies screened were admitted to the neonatal intensive care unit (NICU) for >48 h. The prevalance of PCHI is 7.3\\/1,000 in the NICU population compared to 0.6\\/1000 in the well baby population. 214 (1.8 % of total babies screened) had a clear response in the screening programmes, but were deemed to be at risk of an acquired childhood hearing impairment. These babies will be reassessed with a diagnostic audiology appointment at 8-9 months of age. To date, there is one case of acquired hearing impairment through this targeted follow-up screen. Of the 15 cases of PCHI identified, 8 (53 %) of these had one or more risk factors for hearing loss and 7 (37 %) were admitted to the NICU for >48 h. Four babies were referred for assessment at the National Cochlear Implant Centre.

  2. Is it time for Newborn Screening for Fetal Alcohol Spectrum Disorders: A Commentary?

    Directory of Open Access Journals (Sweden)

    Kenneth A PASS

    2009-11-01

    Full Text Available Fetal Alcohol Spectrum Disorder (FASD is one of the most common causes of acquired mental retardation in the United States and worldwide. The fetal brain is highly susceptible to the teratogenic effects of alcohol from maternal consumption during pregnancy resulting in newborns with mental deficits and congenital malformations. FAS diagnosis is difficult to diagnose in newborns where distinct anatomical defects are not apparent from mothers of moderate to light alcohol use. Hence, medical diagnoses are often not ascertained until mid-childhood after irreparable brain damage has already occurred. Such infants will have been deprived of available socioclinical interventions, trainings, measures, and future treatments that may someday be implemented soon after birth. Presently, there are no FASD newborn biomarker screening programs in place despite cost benefit analyses revealing an annual societal cost of $1.3 million per FASD incident case. Since newborn biomarkers have been reported in the biomedical literature, can we afford not to implement newborn screening for FASD?

  3. A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.

    Science.gov (United States)

    Sinclair, Graham B; van Karnebeek, Clara D M; Ester, Manuel; Boyd, Frances; Nelson, Tanya; Stockler-Ipsiroglu, Sylvia; Vallance, Hilary

    2016-07-01

    Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine biosynthesis presenting with epilepsy and developmental delay in infancy. Excellent developmental outcomes have been reported for infants treated from birth due to a family history. The BC Newborn Screening Program initiated a 3year pilot screening study for GAMT deficiency to evaluate the performance of a novel three-tiered screening approach. Over 36months all bloodspots submitted for routine newborn screening were included in the pilot study (de-identified). Initial GAA measurement was integrated into the standard acylcarnitine/amino acid first-tier assay. All samples with elevated GAA were subjected to second-tier GAA analysis by LC-MS/MS integrated into an existing branched-chain amino acid (MSUD) method. GAMT gene sequencing was completed on the original bloodspot for all specimens with elevated GAA on the second-tier test. The protocol allowed for re-identification for treatment of any specimen with one or two likely pathogenic GAMT mutations. Over the study period 135,372 specimens were tested with 259 (0.19%) over the first-tier GAA cut-off. The second-tier assay removed an interference falsely elevating GAA levels, and only 3 samples required genotyping. No mutations were identified in any samples, all were deemed negative screens and no follow-up was initiated. A three-tier algorithm for GAMT newborn screening showed excellent test performance with zero false positives. No cases were detected, supporting a low incidence for this disorder. Given the low incremental costs and evidence of positive outcomes with early intervention, GAMT deficiency remains an excellent candidate for newborn screening. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Newborn hearing screening: a regional example for national care.

    LENUS (Irish Health Repository)

    Adelola, O A

    2010-05-01

    Congenital Permanent Childhood Hearing Impairment (PCHI) is known to have a negative effect on language acquisition, cognitive development and social integration. Since 2000 our department has implemented a UNHS program in the West of Ireland. We describe our experience and detail our results to date. All neonates born from October 2000 to November 2007 were screened using a 2-stage protocol. Transient evoked oto-acoustic emissions (TEOAEs) were used to screen all neonates, followed by automated auditory brainstem response (AABR) in those who did not pass TEOAE, and all neonates at audiological risk. 26,281 babies were born over the eight year period. 25,742 underwent the screening process, achieving a coverage rate of 98%. The prevalence of PCHI in the population tested was 1.21\\/1000 live births (31\\/25,731). Our results show that a hospital based 2-stage UNHS protocol using TEOAEs and AABR is accurate, feasible and effective.

  5. Screening eye diseases in babies: an italian experience on 5000 healthy, consecutive newborns

    Directory of Open Access Journals (Sweden)

    Roberto Perilli

    2015-12-01

    Full Text Available INTRODUCTION: Visual performance of eyes with congenital pathologies is conditioned by an early diagnosis. Families having problems in accessing health services risk to delay or miss both an early diagnosis and an early treatment and amblyopia (lazy eye prevention. METHODS: In our hospital, all full-term, healthy newborns are thoroughly examined by an ophthalmologist in the maternal ward, 1 to 3 days after birth. RESULTS: Among the first 5000 newborns examined, a high incidence of congenital pathologies compared to international literature was reported, with differences between Caucasians and non-Caucasians. CONCLUSION: Performing an early in-hospital thorough eye examination in all newborns as a screening would be an effective way to miss none and to start an early and effective pathway of disease treatment.

  6. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

    Science.gov (United States)

    Weber, Peter; Scholl, Sabine; Baumgartner, E Regula

    2004-07-01

    Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months-20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy (n=2). In addition, symptomatic children had a higher risk of delayed motor and speech development. No child with PBD detected by newborn screening (n=25) had auditory or visual loss; and milestones of speech development and motor skills were reached at an appropriate age. There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children. Symptomatic children often have developmental delay and are at risk of irreversible damage to auditory, visual, or central nervous functions; whereas children with PBD (established presymptomatically following newborn screening) treated with biotin supplementation, do not experience these effects.

  7. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : A worldwide collaborative project

    NARCIS (Netherlands)

    McHugh, David M. S.; Cameron, Cynthia A.; Abdenur, Jose E.; Abdulrahman, Mahera; Adair, Ona; Al Nuaimi, Shahira Ahmed; Ahlman, Henrik; Allen, Jennifer J.; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Auray-Blais, Christiane; Baker, Mei; Bamforth, Fiona; Beckmann, Kinga; Pino, Gessi Bentz; Berberich, Stanton L.; Binard, Robert; Boemer, Francois; Bonham, Jim; Breen, Nancy N.; Bryant, Sandra C.; Caggana, Michele; Caldwell, S. Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Cariappa, Rohit; Carlisle, Clover; Caruso, Ubaldo; Cassanello, Michela; Miren Castilla, Ane; Castineiras Ramos, Daisy E.; Chakraborty, Pranesh; Chandrasekar, Ram; Ramos, Alfredo Chardon; Cheillan, David; Chien, Yin-Hsiu; Childs, Thomas A.; Chrastina, Petr; Sica, Yuri Cleverthon; Cocho de Juan, Jose Angel; Elena Colandre, Maria; Cornejo Espinoza, Veronica; Corso, Gaetano; Currier, Robert; Cyr, Denis; Czuczy, Noemi; D'Apolito, Oceania; Davis, Tim; de Sain-Van der Velden, Monique G.; Delgado Pecellin, Carmen; Di Gangi, Iole Maria; Di Stefano, Cristina Maria; Dotsikas, Yannis; Downing, Melanie; Downs, Stephen M.; Dy, Bonifacio; Dymerski, Mark; Rueda, Inmaculada; Elvers, Bert; Eaton, Roger; Eckerd, Barbara M.; El Mougy, Fatma; Eroh, Sarah; Espada, Mercedes; Evans, Catherine; Fawbush, Sandy; Fijolek, Kristel F.; Fisher, Lawrence; Franzson, Leifur; Frazier, Dianne M.; Garcia, Luciana R. C.; Garcia-Valdecasas Bermejo, Maria Sierra; Gavrilov, Dimitar; Gerace, Rosemarie; Giordano, Giuseppe; Irazabal, Yolanda Gonzalez; Greed, Lawrence C.; Grier, Robert; Grycki, Elyse; Gu, Xuefan; Gulamali-Majid, Fizza; Hagar, Arthur F.; Han, Lianshu; Hannon, W. Harry; Haslip, Christa; Hassan, Fayza Abdelhamid; He, Miao; Hietala, Amy; Himstedt, Leslie; Hoffman, Gary L.; Hoffman, William; Hoggatt, Philis; Hopkins, Patrick V.; Hougaard, David M.; Hughes, Kerie; Hunt, Patricia R.; Hwu, Wuh-Liang; Hynes, June; Ibarra-Gonzalez, Isabel; Ingham, Cindy A.; Ivanova, Maria; Jacox, Ward B.; John, Catharine; Johnson, John P.; Jonsson, Jon J.; Karg, Eszter; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kozich, Viktor; Kouapei, Rasoul; Kohlmueller, Dirk; Kremensky, Ivo; la Marca, Giancarlo; Lavochkin, Marcia; Lee, Soo-Youn; Lehotay, Denis C.; Lemes, Aida; Lepage, Joyce; Lesko, Barbara; Lewis, Barry; Lim, Carol; Linard, Sharon; Lindner, Martin; Lloyd-Puryear, Michele A.; Lorey, Fred; Loukas, Yannis L.; Luedtke, Julie; Maffitt, Neil; Magee, J. Fergall; Manning, Adrienne; Manos, Shawn; Marie, Sandrine; Hadachi, Sonia Marchezi; Marquardt, Gregg; Martin, Stephen J.; Matern, Dietrich; Gibson, Stephanie K. Mayfield; Mayne, Philip; McCallister, Tonya D.; McCann, Mark; McClure, Julie; McGill, James J.; McKeever, Christine D.; McNeilly, Barbara; Morrissey, Mark A.; Moutsatsou, Paraskevi; Mulcahy, Eleanor A.; Nikoloudis, Dimitris; Norgaard-Pedersen, Bent; Oglesbee, Devin; Oltarzewski, Mariusz; Ombrone, Daniela; Ojodu, Jelili; Papakonstantinou, Vagelis; Reoyo, Sherly Pardo; Park, Hyung-Doo; Pasquali, Marzia; Pasquini, Elisabetta; Patel, Pallavi; Pass, Kenneth A.; Peterson, Colleen; Pettersen, Rolf D.; Pitt, James J.; Poh, Sherry; Pollak, Arnold; Porter, Cory; Poston, Philip A.; Price, Ricky W.; Queijo, Cecilia; Quesada, Jonessy; Randell, Edward; Ranieri, Enzo; Raymond, Kimiyo; Reddic, John E.; Reuben, Alejandra; Ricciardi, Charla; Rinaldo, Piero; Rivera, Jeff D.; Roberts, Alicia; Rocha, Hugo; Roche, Geraldine; Greenberg, Cheryl Rochman; Egea Mellado, Jose Maria; Jess Juan-Fita, Maria; Ruiz, Consuelo; Ruoppolo, Margherita; Rutledge, S. Lane; Ryu, Euijung; Saban, Christine; Sahai, Inderneel; Salazar Garcia-Blanco, Maria Isabel; Santiago-Borrero, Pedro; Schenone, Andrea; Schoos, Roland; Schweitzer, Barb; Scott, Patricia; Seashore, Margretta R.; Seeterlin, Mary A.; Sesser, David E.; Sevier, Darrin W.; Shone, Scott M.; Sinclair, Graham; Skrinska, Victor A.; Stanley, Eleanor L.; Strovel, Erin T.; Jones, April L. Studinski; Sunny, Sherlykutty; Takats, Zoltan; Tanyalcin, Tijen; Teofoli, Francesca; Thompson, J. Robert; Tomashitis, Kathy; Domingos, Mouseline Torquado; Torres, Jasmin; Torres, Rosario; Tortorelli, Silvia; Turi, Sandor; Turner, Kimberley; Tzanakos, Nick; Valiente, Alf G.; Vallance, Hillary; Vela-Amieva, Marcela; Vilarinho, Laura; von Doebeln, Ulrika; Vincent, Marie-Francoise; Vorster, B. Chris; Watson, Michael S.; Webster, Dianne; Weiss, Sheila; Wilcken, Bridget; Wiley, Veronica; Williams, Sharon K.; Willis, Sharon A.; Woontner, Michael; Wright, Katherine; Yahyaoui, Raquel; Yamaguchi, Seiji; Yssel, Melissa; Zakowicz, Wendy M.

    2011-01-01

    Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deiden

  8. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : A worldwide collaborative project

    NARCIS (Netherlands)

    McHugh, David M. S.; Cameron, Cynthia A.; Abdenur, Jose E.; Abdulrahman, Mahera; Adair, Ona; Al Nuaimi, Shahira Ahmed; Ahlman, Henrik; Allen, Jennifer J.; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Auray-Blais, Christiane; Baker, Mei; Bamforth, Fiona; Beckmann, Kinga; Pino, Gessi Bentz; Berberich, Stanton L.; Binard, Robert; Boemer, Francois; Bonham, Jim; Breen, Nancy N.; Bryant, Sandra C.; Caggana, Michele; Caldwell, S. Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Cariappa, Rohit; Carlisle, Clover; Caruso, Ubaldo; Cassanello, Michela; Miren Castilla, Ane; Castineiras Ramos, Daisy E.; Chakraborty, Pranesh; Chandrasekar, Ram; Ramos, Alfredo Chardon; Cheillan, David; Chien, Yin-Hsiu; Childs, Thomas A.; Chrastina, Petr; Sica, Yuri Cleverthon; Cocho de Juan, Jose Angel; Elena Colandre, Maria; Cornejo Espinoza, Veronica; Corso, Gaetano; Currier, Robert; Cyr, Denis; Czuczy, Noemi; D'Apolito, Oceania; Davis, Tim; de Sain-Van der Velden, Monique G.; Delgado Pecellin, Carmen; Di Gangi, Iole Maria; Di Stefano, Cristina Maria; Dotsikas, Yannis; Downing, Melanie; Downs, Stephen M.; Dy, Bonifacio; Dymerski, Mark; Rueda, Inmaculada; Elvers, Bert; Eaton, Roger; Eckerd, Barbara M.; El Mougy, Fatma; Eroh, Sarah; Espada, Mercedes; Evans, Catherine; Fawbush, Sandy; Fijolek, Kristel F.; Fisher, Lawrence; Franzson, Leifur; Frazier, Dianne M.; Garcia, Luciana R. C.; Garcia-Valdecasas Bermejo, Maria Sierra; Gavrilov, Dimitar; Gerace, Rosemarie; Giordano, Giuseppe; Irazabal, Yolanda Gonzalez; Greed, Lawrence C.; Grier, Robert; Grycki, Elyse; Gu, Xuefan; Gulamali-Majid, Fizza; Hagar, Arthur F.; Han, Lianshu; Hannon, W. Harry; Haslip, Christa; Hassan, Fayza Abdelhamid; He, Miao; Hietala, Amy; Himstedt, Leslie; Hoffman, Gary L.; Hoffman, William; Hoggatt, Philis; Hopkins, Patrick V.; Hougaard, David M.; Hughes, Kerie; Hunt, Patricia R.; Hwu, Wuh-Liang; Hynes, June; Ibarra-Gonzalez, Isabel; Ingham, Cindy A.; Ivanova, Maria; Jacox, Ward B.; John, Catharine; Johnson, John P.; Jonsson, Jon J.; Karg, Eszter; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kozich, Viktor; Kouapei, Rasoul; Kohlmueller, Dirk; Kremensky, Ivo; la Marca, Giancarlo; Lavochkin, Marcia; Lee, Soo-Youn; Lehotay, Denis C.; Lemes, Aida; Lepage, Joyce; Lesko, Barbara; Lewis, Barry; Lim, Carol; Linard, Sharon; Lindner, Martin; Lloyd-Puryear, Michele A.; Lorey, Fred; Loukas, Yannis L.; Luedtke, Julie; Maffitt, Neil; Magee, J. Fergall; Manning, Adrienne; Manos, Shawn; Marie, Sandrine; Hadachi, Sonia Marchezi; Marquardt, Gregg; Martin, Stephen J.; Matern, Dietrich; Gibson, Stephanie K. Mayfield; Mayne, Philip; McCallister, Tonya D.; McCann, Mark; McClure, Julie; McGill, James J.; McKeever, Christine D.; McNeilly, Barbara; Morrissey, Mark A.; Moutsatsou, Paraskevi; Mulcahy, Eleanor A.; Nikoloudis, Dimitris; Norgaard-Pedersen, Bent; Oglesbee, Devin; Oltarzewski, Mariusz; Ombrone, Daniela; Ojodu, Jelili; Papakonstantinou, Vagelis; Reoyo, Sherly Pardo; Park, Hyung-Doo; Pasquali, Marzia; Pasquini, Elisabetta; Patel, Pallavi; Pass, Kenneth A.; Peterson, Colleen; Pettersen, Rolf D.; Pitt, James J.; Poh, Sherry; Pollak, Arnold; Porter, Cory; Poston, Philip A.; Price, Ricky W.; Queijo, Cecilia; Quesada, Jonessy; Randell, Edward; Ranieri, Enzo; Raymond, Kimiyo; Reddic, John E.; Reuben, Alejandra; Ricciardi, Charla; Rinaldo, Piero; Rivera, Jeff D.; Roberts, Alicia; Rocha, Hugo; Roche, Geraldine; Greenberg, Cheryl Rochman; Egea Mellado, Jose Maria; Jess Juan-Fita, Maria; Ruiz, Consuelo; Ruoppolo, Margherita; Rutledge, S. Lane; Ryu, Euijung; Saban, Christine; Sahai, Inderneel; Salazar Garcia-Blanco, Maria Isabel; Santiago-Borrero, Pedro; Schenone, Andrea; Schoos, Roland; Schweitzer, Barb; Scott, Patricia; Seashore, Margretta R.; Seeterlin, Mary A.; Sesser, David E.; Sevier, Darrin W.; Shone, Scott M.; Sinclair, Graham; Skrinska, Victor A.; Stanley, Eleanor L.; Strovel, Erin T.; Jones, April L. Studinski; Sunny, Sherlykutty; Takats, Zoltan; Tanyalcin, Tijen; Teofoli, Francesca; Thompson, J. Robert; Tomashitis, Kathy; Domingos, Mouseline Torquado; Torres, Jasmin; Torres, Rosario; Tortorelli, Silvia; Turi, Sandor; Turner, Kimberley; Tzanakos, Nick; Valiente, Alf G.; Vallance, Hillary; Vela-Amieva, Marcela; Vilarinho, Laura; von Doebeln, Ulrika; Vincent, Marie-Francoise; Vorster, B. Chris; Watson, Michael S.; Webster, Dianne; Weiss, Sheila; Wilcken, Bridget; Wiley, Veronica; Williams, Sharon K.; Willis, Sharon A.; Woontner, Michael; Wright, Katherine; Yahyaoui, Raquel

    Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742

  9. Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening

    NARCIS (Netherlands)

    Vernooij-van Langen, Annette; Dompeling, Edward; Yntema, Jan-Bart; Arets, HGM; Tiddens, Harm; Loeber, Gerard; Dankert-Roelse, Jeannette

    After a positive newborn screening test for cystic fibrosis (CF), a sweat test is performed to confirm the diagnosis. The success rate of the generally acknowledged methods (Macroduct/Gibson and Cooke) in newborns varies between 73 and 99 %. The Nanoduct sweat test system is easier to perform and

  10. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : A worldwide collaborative project

    NARCIS (Netherlands)

    McHugh, David M. S.; Cameron, Cynthia A.; Abdenur, Jose E.; Abdulrahman, Mahera; Adair, Ona; Al Nuaimi, Shahira Ahmed; Ahlman, Henrik; Allen, Jennifer J.; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Auray-Blais, Christiane; Baker, Mei; Bamforth, Fiona; Beckmann, Kinga; Pino, Gessi Bentz; Berberich, Stanton L.; Binard, Robert; Boemer, Francois; Bonham, Jim; Breen, Nancy N.; Bryant, Sandra C.; Caggana, Michele; Caldwell, S. Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Cariappa, Rohit; Carlisle, Clover; Caruso, Ubaldo; Cassanello, Michela; Miren Castilla, Ane; Castineiras Ramos, Daisy E.; Chakraborty, Pranesh; Chandrasekar, Ram; Ramos, Alfredo Chardon; Cheillan, David; Chien, Yin-Hsiu; Childs, Thomas A.; Chrastina, Petr; Sica, Yuri Cleverthon; Cocho de Juan, Jose Angel; Elena Colandre, Maria; Cornejo Espinoza, Veronica; Corso, Gaetano; Currier, Robert; Cyr, Denis; Czuczy, Noemi; D'Apolito, Oceania; Davis, Tim; de Sain-Van der Velden, Monique G.; Delgado Pecellin, Carmen; Di Gangi, Iole Maria; Di Stefano, Cristina Maria; Dotsikas, Yannis; Downing, Melanie; Downs, Stephen M.; Dy, Bonifacio; Dymerski, Mark; Rueda, Inmaculada; Elvers, Bert; Eaton, Roger; Eckerd, Barbara M.; El Mougy, Fatma; Eroh, Sarah; Espada, Mercedes; Evans, Catherine; Fawbush, Sandy; Fijolek, Kristel F.; Fisher, Lawrence; Franzson, Leifur; Frazier, Dianne M.; Garcia, Luciana R. C.; Garcia-Valdecasas Bermejo, Maria Sierra; Gavrilov, Dimitar; Gerace, Rosemarie; Giordano, Giuseppe; Irazabal, Yolanda Gonzalez; Greed, Lawrence C.; Grier, Robert; Grycki, Elyse; Gu, Xuefan; Gulamali-Majid, Fizza; Hagar, Arthur F.; Han, Lianshu; Hannon, W. Harry; Haslip, Christa; Hassan, Fayza Abdelhamid; He, Miao; Hietala, Amy; Himstedt, Leslie; Hoffman, Gary L.; Hoffman, William; Hoggatt, Philis; Hopkins, Patrick V.; Hougaard, David M.; Hughes, Kerie; Hunt, Patricia R.; Hwu, Wuh-Liang; Hynes, June; Ibarra-Gonzalez, Isabel; Ingham, Cindy A.; Ivanova, Maria; Jacox, Ward B.; John, Catharine; Johnson, John P.; Jonsson, Jon J.; Karg, Eszter; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kozich, Viktor; Kouapei, Rasoul; Kohlmueller, Dirk; Kremensky, Ivo; la Marca, Giancarlo; Lavochkin, Marcia; Lee, Soo-Youn; Lehotay, Denis C.; Lemes, Aida; Lepage, Joyce; Lesko, Barbara; Lewis, Barry; Lim, Carol; Linard, Sharon; Lindner, Martin; Lloyd-Puryear, Michele A.; Lorey, Fred; Loukas, Yannis L.; Luedtke, Julie; Maffitt, Neil; Magee, J. Fergall; Manning, Adrienne; Manos, Shawn; Marie, Sandrine; Hadachi, Sonia Marchezi; Marquardt, Gregg; Martin, Stephen J.; Matern, Dietrich; Gibson, Stephanie K. Mayfield; Mayne, Philip; McCallister, Tonya D.; McCann, Mark; McClure, Julie; McGill, James J.; McKeever, Christine D.; McNeilly, Barbara; Morrissey, Mark A.; Moutsatsou, Paraskevi; Mulcahy, Eleanor A.; Nikoloudis, Dimitris; Norgaard-Pedersen, Bent; Oglesbee, Devin; Oltarzewski, Mariusz; Ombrone, Daniela; Ojodu, Jelili; Papakonstantinou, Vagelis; Reoyo, Sherly Pardo; Park, Hyung-Doo; Pasquali, Marzia; Pasquini, Elisabetta; Patel, Pallavi; Pass, Kenneth A.; Peterson, Colleen; Pettersen, Rolf D.; Pitt, James J.; Poh, Sherry; Pollak, Arnold; Porter, Cory; Poston, Philip A.; Price, Ricky W.; Queijo, Cecilia; Quesada, Jonessy; Randell, Edward; Ranieri, Enzo; Raymond, Kimiyo; Reddic, John E.; Reuben, Alejandra; Ricciardi, Charla; Rinaldo, Piero; Rivera, Jeff D.; Roberts, Alicia; Rocha, Hugo; Roche, Geraldine; Greenberg, Cheryl Rochman; Egea Mellado, Jose Maria; Jess Juan-Fita, Maria; Ruiz, Consuelo; Ruoppolo, Margherita; Rutledge, S. Lane; Ryu, Euijung; Saban, Christine; Sahai, Inderneel; Salazar Garcia-Blanco, Maria Isabel; Santiago-Borrero, Pedro; Schenone, Andrea; Schoos, Roland; Schweitzer, Barb; Scott, Patricia; Seashore, Margretta R.; Seeterlin, Mary A.; Sesser, David E.; Sevier, Darrin W.; Shone, Scott M.; Sinclair, Graham; Skrinska, Victor A.; Stanley, Eleanor L.; Strovel, Erin T.; Jones, April L. Studinski; Sunny, Sherlykutty; Takats, Zoltan; Tanyalcin, Tijen; Teofoli, Francesca; Thompson, J. Robert; Tomashitis, Kathy; Domingos, Mouseline Torquado; Torres, Jasmin; Torres, Rosario; Tortorelli, Silvia; Turi, Sandor; Turner, Kimberley; Tzanakos, Nick; Valiente, Alf G.; Vallance, Hillary; Vela-Amieva, Marcela; Vilarinho, Laura; von Doebeln, Ulrika; Vincent, Marie-Francoise; Vorster, B. Chris; Watson, Michael S.; Webster, Dianne; Weiss, Sheila; Wilcken, Bridget; Wiley, Veronica; Williams, Sharon K.; Willis, Sharon A.; Woontner, Michael; Wright, Katherine; Yahyaoui, Raquel; Yamaguchi, Seiji; Yssel, Melissa; Zakowicz, Wendy M.

    2011-01-01

    Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deiden

  11. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey

    Directory of Open Access Journals (Sweden)

    Cecelia A. Bellcross

    2015-10-01

    Full Text Available Newborn screening (NBS follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS results is required to inform the development of appropriate informational resources and training opportunities. To begin to address these issues, we administered a web-based survey to state NBS coordinators within the Southeast Regional Newborn Screening & Genetics Collaborative (SERC. Fourteen coordinators responded to the survey, including at least one from each of the 10 SERC states/territories. Over one-third of respondents had never received formal training regarding the metabolic conditions identified on NBS. Most communicated results via telephone or fax, though two centers indicated use of a web-based platform. Only two programs were involved in directly reporting results to the family. Four programs reported a long-term follow-up protocol. Deficits were noted for primary care provider (PCP knowledge of metabolic disorders identified on NBS, and how to inform parents of abnormal results. Close to half indicated that the adequacy of the number of genetic counselors, dietitians, and medical/biochemical geneticists was minimal to insufficient. Respondents uniformly recognized the importance of providing additional educational and informational resources in multiple categories to NBS staff, PCPs, and families.

  12. Serum vitamin B12 levels during the first trimester of pregnancy correlate with newborn screening markers of vitamin B12 deficiency.

    Science.gov (United States)

    Dayaldasani, Anita; Ruiz-Escalera, Juan; Rodríguez-Espinosa, Manuel; Rueda, Inmaculada; Pérez-Valero, Vidal; Yahyaoui, Raquel

    2014-01-01

    Low maternal vitamin B12 status is a risk factor for various adverse pregnancy outcomes. Although vitamin B12 deficiency is not a primary target of newborn screening (NBS) programs, measurements of propionylcarnitine (C3) and its ratios with acetylcarnitine (C3/C2) and palmitoylcarnitine (C3/C16) may incidentally identify vitamin B12-deficient newborns. The objective of this study was to measure vitamin B12 levels in women during the first trimester of pregnancy, evaluate predictors of these concentrations, and study their relationship with newborn screening results. Vitamin B12 concentrations were evaluated in 204 women during the first trimester of pregnancy and possible confounding factors were analyzed. After giving birth, data of their newborns (189) were collected (sex, gestational age, birthweight) and the acylcarnitine profile obtained by tandem mass spectrometry during NBS was analyzed. To assess the effects of the variables on vitamin B12 serum concentrations and newborn screening markers, stepwise multiple linear regression models were used. The mean serum concentration of vitamin B12 was 370.8 pmol/L (502.4 pg/mL) (SD 142.81). Vitamin B12 concentrations were significantly lower in smokers (p=0.027), and in women with low meat consumption (p=0.040). There was a significant inverse correlation between mothers'’ vitamin B12 concentrations and their children’'s C3 (r=-0.24; p=0.001), C3/C2 (r=-0.23; p=0.002) and C3/C16 levels (r=-0.20; p=0.006). Newborn screening markers (C3, C3/C2, and C3/C16) present an inverse correlation with maternal vitamin B12 status in the first trimester of pregnancy. Regarding factors that may influence maternal serum vitamin B12 levels during the first trimester, smoking seems to have a negative effect, and meat consumption a positive effect.

  13. The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

    Science.gov (United States)

    Gaspar, H B; Hammarström, L; Mahlaoui, N; Borte, M; Borte, S

    2014-05-01

    Severe combined immunodeficiency (SCID) is the most severe form of inherited primary immunodeficiency and is a paediatric emergency. Delay in recognising and detecting SCID can have fatal consequences and also reduces the chances of a successful haematopoietic stem cell transplant (HSCT). Screening for SCID at birth would prevent children from dying before HSCT can be attempted and would increase the success of HSCT. There is strong evidence to show that SCID fulfills the internationally-established criteria for a condition to be screened for at birth. There is also a test (the T-cell receptor excision circle (TREC) assay) that is now being successfully used in an increasing number of US states to screen for SCID in routine newborn Guthrie samples. Concerted lobbying efforts have highlighted the need for newborn screening (NBS) for SCID, and its implementation is being discussed in Europe both at EU and individual country level, but as yet there is no global mandate to screen for this rare and frequently lethal condition. This paper summarizes the current evidence for, and the success of SCID NBS, together with a review of the practical aspects of SCID testing and the arguments in favour of adding SCID to the conditions screened for at birth.

  14. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

    OpenAIRE

    Ernesto Carlos González Reyes PhD; Elisa M. Castells MSc; Amarilys Frómeta MSc; Ana Luisa Arteaga MD; Lesley Del Río MSc; Yileidis Tejeda MSc; Pedro L. Pérez LT; Mary Triny Segura BSc; Pedro Almenares MSc; Yenitse Perea MSc; Niurka M. Carlos MSc; René Robaina MD, PhD; José L. Fernández-Yero MD, PhD

    2016-01-01

    The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs) for metabolic and endocrine disorders in Cuba. This article summarizes the main results of the implementation during the 30 years of SUMA technology ...

  15. Analysis of inborn errors of metabolism:disease spectrum for expanded newborn screening in Hong Kong

    Institute of Scientific and Technical Information of China (English)

    Han-Chih Hencher Lee; Wai-Kwan Siu; Sammy Pak-Lam Chen; Chun-Yiu Law; Morris Hok-Leung Tai; Sidney Tam; Albert Yan-Wo Chan; Chloe Miu Mak; Ching-Wan Lam; Yuet-Ping Yuen; Angel On-Kei Chan; Chi-Chung Shek; Tak-Shing Siu; Chi-Kong Lai; Chor-Kwan Ching

    2011-01-01

    Background Data of classical inborn errors of metabolism (IEM) of amino acids,organic acids and fatty acid oxidation are largely lacking in Hong Kong,where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence,spectrum and other characteristics of classical IEM in Hong Kong,which would be important in developing an expanded newborn screening program for the local area.Methods The laboratory records of plasma amino acids,plasma acylcarnitines and urine organic acids analyses from year 2005 to 2009 inclusive in three regional chemical pathology laboratories providing biochemical and genetic diagnostic services for IEM were retrospectively reviewed.Results Among the cohort,43 patients were diagnosed of IEM,including 30 cases (69%) of amino acidemias(predominantly citrin deficiency,hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinemia type Ⅰ),5 cases (12%) of organic acidemias (predominantly holocarboxylase synthetase deficiency) and 8cases (19%) of fatty acid oxidation defects (predominantly carnitine-acylcarnitine translocase deficiency). The incidence of classical IEM in Hong Kong was roughly estimated to be at least 1 case per 4122 lives births,or 0.243 cases per 1000live births. This incidence is similar to those reported worldwide,including the mainland of China. The estimated incidence of hyperphenylalaninemia was 1 in 29 542 live births.Conclusions Our data indicate that it is indisputable for the introduction of expanded newborn screening program in Hong Kong. Since Hong Kong is a metropolitan city,a comprehensive expanded newborn screening program and referral system should be available to serve the neonates born in the area.

  16. Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.

    Science.gov (United States)

    Wiley, V; Carpenter, K; Wilcken, B

    1999-12-01

    Since 1998, the NSW Newborn Screening Program has used electrospray tandem mass spectrometry (MS/MS) to analyse samples from all babies born in NSW and the ACT (approximately 95000 per year) for selected amino acids and acylcarnitines. The software rules editor initially interprets all results where ratio of analyte to internal standard is modified by input from the external standard curves per analyte. The numerical results are then downloaded to the NSW Newborn Screening database, which provides automatic, analyte specific follow-up test cascade. We have analysed samples from 137 120 consecutive newborns received by the program, requested repeat samples from 122 babies, and found abnormal levels in 17 babies with phenylketonuria, 1 tetrahydrobiopterin deficiency, 3 hyperphenylalaninaemia, 1 maple syrup urine disease, 1 tyrosinaemia type II, 1 congenital lactic acidosis, 2 medium-chain acyl CoA dehydrogenase deficiency, 1 short-chain acyl CoA dehydrogenase deficiency, 1 beta-ketothiolase deficiency, 2 vitamin B12 deficient babies of vegan mothers and 1 glutaric aciduria type I. Using population data plus that obtained from retrospective samples with proven disorders we have established cut-off levels for each analyte tested. This coupled with the ability of the database to provide ratios of various analytes gives excellent screening specificity and sensitivity for the detection of at least 40 rare inborn errors of metabolism.

  17. Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis

    NARCIS (Netherlands)

    Vernooij-van Langen, A.M.M.; Pal, S.M. van der; Reijntjens, A.J.T.; Loeber, J.G.; Dompeling, E.; Dankert-Roelse, J.E.

    2014-01-01

    Background: False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health. Aim of the study: To evaluate whether parental anxiety induced by a false positive screening result disappea

  18. Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis

    NARCIS (Netherlands)

    Vernooij-van Langen, A.M.M.; Pal, S.M. van der; Reijntjens, A.J.T.; Loeber, J.G.; Dompeling, E.; Dankert-Roelse, J.E.

    2014-01-01

    Background: False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health. Aim of the study: To evaluate whether parental anxiety induced by a false positive screening result disappea

  19. AB108. The appliance of Bio-Plex immunoassay using dried blood spots for mucopolysaccharidosis IVA newborn screening in Taiwan—a pilot study

    Science.gov (United States)

    Lin, Chia-Hui; Chuang, Chih-Kuang; Lin, Hsiang-Yu; Wang, Tuen-Jen; Tsai, Chia-Chen; Lin, Shuan-Pei

    2015-01-01

    Background Mucopolysaccharidosis (MPS) IVA is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. This excessive storage causes a systemic skeletal dysplasia, short stature, and joint abnormalities. Treatments for MPS IVA are available. Better outcomes are associated with early treatment, which highlights a need for newborn screening for MPS IVA. Methods We have conducted a newborn screening pilot program for MPS IVA since December 1, 2013. Screening involved measuring the quantity of GALNS in dried blood spots on filter paper (DBFP) from newborns using a Bio-Plex immunoassay. The amounts of fluorescence sorting detected by YAG laser with wavelengths of 532 (exciting) and 580 nm (emission) is proportional to the quantity of GALNS protein. Results More than 5,657 neonates have been analyzed, in those, 132 newborns had GALNS quantification less than the cut-off value (48.64 ρg/mL) at the first screening test. Most of them (n=124) were exclusive and only eight had been recalled for a second DBFP collection and GALNS quantity rechecked. The reference values were 48.64-552.4 ρg/mL. For the confirmed MPS IV patients without enzyme replacement therapy (n=11), the GALNS quantities were far less than 5% of the normal population, and ranged from 0.00 to 4.02 ρg/mL. The GALNS quantities of the carriers (n=2) were significantly reduced comparing with those of the normal values. Conclusions The Bio-Plex immunoassay has the potential to be adopted for newborn screening of MPS IVA. This method is reliable, sensitive, validated, simple, and cost-effective in measuring GALNS enzyme in DBFP.

  20. Psychological effects of false-positive results in expanded newborn screening in China.

    Directory of Open Access Journals (Sweden)

    Wen-Jun Tu

    Full Text Available OBJECTIVES: As more families participate expanded newborn screening for metabolic disorders in China, the overall number of false positives increases. Our goal was to assess the potential impact on parental stress, perceptions of the child's health, and family relationships. METHODS: Parents of 49 infants with false-positive screening results for metabolic disorders in the expanded newborn screening panel were compared with parents of 42 children with normal screening results. Parents first completed structured interview using likert scales, closed and open questions. Parents also completed the parenting stress index. RESULTS: A total of 88 mothers and 41 fathers were interviewed. More mothers in the false-positive group reported that their children required extra parental care (21%, compared with 5% of mothers in the normal-screened group (P<0.001. 39% of mothers in the false-positive group reported that they worry about their child's future development, compared with 10% of mothers in the normal-screened group (P<0.001. Fathers in the false-positive group did not differ from fathers in the normal-screened group in reporting worry about their child's extra care requirements, and their child's future development. Children with false-positive results compared with children with normal results were triple as likely to experience hospitalization (27%vs 9%, respectively; P<0.001. CONCLUSIONS: The results showing false-positive screening results may affect parental stress and the parent-child relationship. Parental stress and anxiety can be reduced with improved education and communication to parents about false-positive results.

  1. 77 FR 39986 - Information Collection; Health Screening Questionnaire

    Science.gov (United States)

    2012-07-06

    ... Forest Service Information Collection; Health Screening Questionnaire AGENCY: Forest Service, USDA... a currently approved information collection, Health Screening Questionnaire. DATES: Comments must be...: Title: Health Screening Questionnaire. OMB Number: 0596-0164. Expiration Date of Approval: January...

  2. [Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].

    Science.gov (United States)

    Yang, R L; Tong, F; Hong, F; Qian, G L; Wu, D W; Zhao, Z Y

    2017-02-02

    Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed. Result: The prevalence of GAL in Zhejiang province was 1/189 857. Among them, there was 1 case confirmed with GAL typeⅠ (prevalence, 1/759 428), with mutations of c. 904+ 1G>T and c. 687G>A, the enzyme activity of galactose-1-phosphate uridyltransferase (GALT) was 56.4% of controls. And there was 1 case of GAL typeⅡ(prevalence, 1/759 428), with mutations of c. 85G>T and c. 502G>A. There were 2 cases confirmed with GAL type Ⅲ(prevalence, 1/379 714), with mutations of c. 505C>T, c. 452G>A, c. 280G>A and c. 925G>A, the enzyme activity of UDP-galactose-4'-epimerase (GALE) were 42% and 38% of controls, respectively. All cases had different abnormal biochemical marks of liver function, and 1 case had combined hyperlactacidemia or hyperammonemia or increase of multiple kinds of amino acids, respectively. The newborn of GAL type Ⅱ had phacoscotasmus before treatment. All the cases were fed with lactose free milk powder, and all the abnormal parameters were improved during following up. Conclusion: The disease of GAL is rare in Zhejiang province, and its genotype distribution is scattered with comparatively mind clinical manifestations, and the cases with early treatment with lactose free milk powder have good prognosis. All cases needed to be treated and followed up for a life-long time. It is recommended that the high risk cases with GAL should be screened as soon as

  3. Comparing the clinical effectiveness of different new-born hearing screening strategies. A decision analysis

    Directory of Open Access Journals (Sweden)

    Schnell-Inderst Petra

    2005-01-01

    Full Text Available Abstract Background Children with congenital hearing impairment benefit from early detection and treatment. At present, no model exists which explicitly quantifies the effectiveness of universal newborn hearing screening (UNHS versus other programme alternatives in terms of early diagnosis. It has yet to be considered whether early diagnosis (within the first few months of hearing impairment is of importance with regard to the further development of the child compared with effects resulting from a later diagnosis. The objective was to systematically compare two screening strategies for the early detection of new-born hearing disorders, UNHS and risk factor screening, with no systematic screening regarding their influence on early diagnosis. Methods Design: Clinical effectiveness analysis using a Markov Model. Data Sources: Systematic literature review, empirical data survey, and expert opinion. Target Population: All newborn babies. Time scale: 6, 12 and 120 months. Perspective: Health care system. Compared Strategies: UNHS, Risk factor screening (RS, no systematic screening (NS. Outcome Measures: Quality weighted detected child months (QCM. Results UNHS detected 644 QCM up until the age of 6 months (72,2%. RS detected 393 child months (44,1% and no systematic screening 152 child months (17,0%. UNHS detected 74,3% and 86,7% weighted child months at 12 and 120 months, RS 48,4% and 73,3%, NS 23,7% and 60,6%. At the age of 6 months UNHS identified approximately 75% of all children born with hearing impairment, RS 50% and NS 25%. At the time of screening UNHS marked 10% of screened healthy children for further testing (false positives, RS 2%. UNHS demonstrated higher effectiveness even under a wide range of relevant parameters. The model was insensitive to test parameters within the assumed range but results varied along the prevalence of hearing impairment. Conclusion We have shown that UNHS is able to detect hearing impairment at an earlier age

  4. Impact of age at onset and newborn screening on outcome in organic acidurias

    DEFF Research Database (Denmark)

    Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M;

    2016-01-01

    analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO). RESULTS: Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group......BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. METHODS: Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients...... with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some...

  5. Evidence for a Right-Ear Advantage in Newborn Hearing Screening Results.

    Science.gov (United States)

    Ari-Even Roth, Daphne; Hildesheimer, Minka; Roziner, Ilan; Henkin, Yael

    2016-12-06

    The aim of the present study was to investigate the effect of ear asymmetry, order of testing, and gender on transient-evoked otoacoustic emission (TEOAE) pass rates and response levels in newborn hearing screening. The screening results of 879 newborns, of whom 387 (study group) passed screening successfully in only one ear in the first TEOAE screening, but passed screening successfully in both ears thereafter, and 492 (control group) who passed screening successfully in both ears in the first TEOAE, were retrospectively examined for pass rates and TEOAE characteristics. Results indicated a right-ear advantage, as manifested by significantly higher pass rates in the right ear (61% and 39% for right and left ears, respectively) in the study group, and in 1.75 dB greater TEOAE response amplitudes in the control group. The right-ear advantage was enhanced when the first tested ear was the right ear (76%). When the left ear was tested first, pass rates were comparable in both ears. The right-ear advantage in pass rates was similar in females versus males, but manifested in 1.5 dB higher response amplitudes in females compared with males, regardless of the tested ear and order of testing in both study and control groups. The study provides further evidence for the functional lateralization of the auditory system at the cochlear level already apparent soon after birth in both males and females. While order of testing plays a significant role in the asymmetry in pass rates, the innate right-ear advantage seems to be a more dominant contributor. © The Author(s) 2016.

  6. [Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis].

    Science.gov (United States)

    Lyu, Kangmo; Xiong, Yehua; Yu, Hao; Zou, Ling; Ran, Longrong; Liu, Deshun; Yin, Qin; Xu, Yingwen; Fang, Xue; Song, Zuling; Huang, Lijia; Tan, Dayong; Zhang, Zhiwei

    2014-10-01

    To achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital, prenatal and postnatal genetic counseling. A total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents. Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits. Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used. Nine hot mutations including GJB2 (35delG, 176del16, 235delC and 299delAT), GJB3 (538C> T), SLC26A4 (IVS 7-2A> G, 2168A> G), and mitochondrial DNA 12S rRNA (1555A> G, 1494C> T) were detected by PCR amplification and microarray hybridization. Mutations detected by microarray were verified by Sanger DNA sequencing. Of the 17 000 new-borns, 542 neonates had mutations of the 4 genes. Heterozygous mutations of GJB2, at 235delC, 299delAT, and 176del16 were identified in 254, 55, and 15 newborns, respectively. Two newborns had homozygous mutation of GJB2, 235delC. Heterozygous mutations at 538C> T of GJB3, 2168A> G and IVS 7-2A> G of SLC26A4 were found in 23, 17 and 128 newborns, respectively. For mutation analysis of mitochondrial DNA 12S rRNA, 1494C> T and 1555A> G were homogeneous mutations in 4 and 42 neonates, respectively. In addition, 6 complexity mutations were detected, which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4, IVS7-2A> G, one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation, 1555 A> G, one heterozygous mutations at GJB2, 299delAT, and GJB3, 538C> T, one at GJB2, 299delAT and 12S rRNA, 1555 A> G, two at GJB2, 299delAT, and SLC26A4, IVS7-2A> G. All mutations as above were confirmed by DNA sequencing. The total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu. Mutations of GJB2 and SLAC26A4 are major ones (86.5% of total). The

  7. Susceptibility of pregnant women to toxoplasma infection--potential benefits for newborn screening.

    LENUS (Irish Health Repository)

    Ferguson, W

    2008-08-20

    Congenital toxoplasmosis (CT) arises as a result of new acquisition of Toxoplasma infection by a susceptible woman during pregnancy. Early detection of CT through neonatal screening programmes could optimize management and improve infant outcome. This study sought to estimate the prevalence of Toxoplasma susceptibility in pregnant women. As detection of Toxoplasma antibodies in neonatal blood reflects maternal exposure history, maternal antibody seroprevalence was determined using anonymized residual blood from newborn screening cards. A total of 20,252 cards were tested in 1 year. 4,991 (24.6%) cards tested positive for Toxoplasma antibody. Results were stratified by county. Toxoplasma antibody seroprevalence rates of 25% indicated that Toxoplasma infection is common in Ireland and that up to 75% of women remain susceptible to primary infection during pregnancy. This study aimed to a) determine the seroprevalence of Toxoplasma antibody in pregnant women, and hence b) estimate the risk for acquisition of primary toxoplasmosis in pregnancy in order to support an application to fund a pilot newborn screening programme.

  8. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

    Science.gov (United States)

    Kölker, Stefan; Garbade, Sven F; Boy, Nikolas; Maier, Esther M; Meissner, Thomas; Mühlhausen, Chris; Hennermann, Julia B; Lücke, Thomas; Häberle, Johannes; Baumkötter, Jochen; Haller, Wolfram; Muller, Edith; Zschocke, Johannes; Burgard, Peter; Hoffmann, Georg F

    2007-09-01

    Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare neurometabolic disorder that is considered treatable if patients are identified before the onset of acute encephalopathic crises. To allow early identification of affected individuals, tandem mass spectrometry-based newborn screening for GCDH deficiency has been started in Germany in 1999. We prospectively followed neonatally screened patients (n=38) and compared the neurologic outcome with patients from a historical cohort (n=62). In the majority of neonatally screened children, the onset of encephalopathic crises has been prevented (89%), whereas acute encephalopathic crises or progressive neurologic impairment was common in the historical cohort. Neonatal screening in combination with intensive management is effective--even assuming ascertainment bias in the historical cohort. Similar proportions of commonest mutations and biochemical phenotypes (high and low excretors) were found in neonatally screened and historical patients. However, potential predictor variables for mild clinical phenotypes are not yet known and thus a selection of these patients by newborn screening is not excluded. No patient was known to be missed by newborn screening from 1999 to 2005. In conclusion, this study confirms that newborn screening for GCDH deficiency in combination with intensive management is beneficial.

  9. Newborn Screening: National Library of Medicine Literature Search, January 1980 through March 1987. No. 87-2.

    Science.gov (United States)

    Patrias, Karen

    This bibliography, prepared by the National Library of Medicine through a literature search of its online databases, covers all aspects of newborn screening. It includes references to screening for: inborn errors of metabolism, such as phenylketonuria and galactosemia; hemoglobinopathies, particularly sickle cell disease; congenital hypothyroidism…

  10. Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.

    Science.gov (United States)

    Giguère, Yves; Berthier, Marie-Thérèse

    2017-01-01

    Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and may lead to death. Due to a genetic founder effect in the French-Canadian population, the prevalence of HTI is increased in the province of Quebec (1/19 819), with the IVS12 + 5G>A (1062 + 5G>A) splice site mutation responsible for more than 90% of mutated alleles. Universal newborn screening for (HT1) was thus established in 1970, and close to four million infants have been tested so far, allowing to identify 185 of the 190 affected newborns. During the 1970-1997 period, 2,249,000 newborns were screened at 3-7 days of life on dried filter paper blood spots by tyrosine (Tyr) concentration followed by indirect colorimetric semi-quantitative and quantitative (Q) succinylacetone (SA) testing (red blood cells δ-aminolevulinate dehydratase inhibition), with immunoreactive FAH as the confirmatory test. This approach allowed to identify 118 of 123 affected newborns. In 1998, owing to earlier hospital discharge and increased rate of breastfeeding, four cases were missed within the same year as the discriminating power of blood Tyr became inadequate. Thus, the screening algorithm was modified: indirect semi-quantitative SA measurement became the first-tier test between 1998 and 2014, and direct SA measurement by tandem mass spectrometry (MS/MS) was implemented in 2014, followed by indirect quantitative SA measurement as second tier test. Confirmation is performed by plasmatic amino acid profile and molecular testing. During the 1998-2016 period, more than 1,5 million neonates have been tested (90% sampled between 24 and 48 h of life): 67 of the 67 HTI cases were identified. Both indirect and direct SA measurement as the initial HTI screening test proved to be highly sensitive and specific, with positive and negative predicting

  11. Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

    Science.gov (United States)

    Kemper, E A; Boelen, A; Bosch, A M; van Veen-Sijne, M; van Rijswijk, C N; Bouva, M J; Fingerhut, R; Schielen, P C J I

    2016-05-21

    Newborn screening for classical galactosemia in the Netherlands is performed by five laboratories and is based on the measurement of galactose 1-phosphate-uridyltransferase (GALT) activity and total galactose (TGAL) in heel prick blood spots. Unexpected problems with the GALT assay posed a challenge to switch to a new assay. The aim of this study was to make an analytical and clinical evaluation of GALT assays to replace the current assay and to establish new cut-off values (COVs).First, the manual assay from PerkinElmer (NG-1100) and the GSP assay were compared by analyzing 626 anonymous heel prick samples in parallel. Secondly, a manual GSP method was evaluated and 2,052 samples were compared with the automated GSP assay. Finally, a clinical evaluation was performed by collecting data from 93 referred newborns.No satisfactory correlation was observed between GALT activity measured with the manual NG-1100 assay and the automated GSP assay. An acceptable correlation was found between the manual and automated GSP assay. Intra- and inter-assay variation of the automated GSP were 1.8-10.0% and 3.1-13.9%, respectively. Evaluation of clinical data demonstrated that adjusting the COVs for GALT to 2.0 U/dl and TGAL to 1,100 μmol/l improved specificity of screening for classical galactosemia.An assay designed for automated processing to measure GALT activity in heel prick samples works equally well when processed manually. We therefore adopted both methods in the Dutch screening laboratories. As a result of this evaluation new COVs for GALT and TGAL have been introduced and are valid from July 2015.

  12. [Primary care follow-up of newborns with sickle cell disease detected in neonatal screening in the Community of Madrid].

    Science.gov (United States)

    Rodríguez-Moldes, B; Carbajo, A J; Sánchez, B; Fernández, M; Garí, M; Fernández, M C; Álvarez, J; García, A; Cela, E

    2015-04-01

    The main aim of the study was to assess the effects of the recommended preventive program in the population affected with Sickle Cell Disease in Primary Care. The program included, antibiotic prophylaxis, immunizations and health education, following the introduction of universal neonatal screening program for Sickle Cell Disease in the Community of Madrid. A cross-sectional observational study was performed with retrospective data collected from a cohort of newborns with Sickle Cell Disease diagnosed by neonatal screening test in the Community of Madrid. From the data obtained from a sample of 20 patients, it was found that 95% had been diagnosed by the newborn screening test performed between 5 and 13 days of life. The mean age was 39 months when the study was conducted. During follow-up, from Primary Care Paediatric clinic, it was observed that the compliance for antibiotic prophylaxis was 90%, and the coverage for the official vaccination schedule was 85%. Specific vaccine coverage as a risk population was highly variable (85% for pneumococcal 23V, 50% for influenza, and 15% for hepatitis A). Health education only reached one in every four families. Acceptable compliance with antibiotic prophylaxis was observed during the follow-up of patients with sickle cell disease in Primary Care, but a low coverage of routine immunization, as well as specific immunizations. Coverage of health education was very low. Improving these parameters would require greater coordination and involvement of Primary Care Professionals so that these patients were followed up appropriately, and could be translated into a reduction of disease complications and an improvement in the quality of life of these patients. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  13. Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo.

    Science.gov (United States)

    Morikawa, Shuntaro; Nakamura, Akie; Fujikura, Kaori; Fukushi, Masaru; Hotsubo, Tomoyuki; Miyata, Jun; Ishizu, Katsura; Tajima, Toshihiro

    2014-04-01

    The primary goal of newborn mass screening (MS) for congenital adrenal hyperplasia (CAH) is the prevention of life-threatening salt-wasting crisis in the most severe forms of CAH, and MS for CAH has been implemented in several countries. We summarize here our experience and results from newborn CAH MS from 1982 to 2010 in Sapporo City. During these 28 yr, the level of 17-hydroxyprogesterone (17-OHP) was determined in MS of samples from 498,147 newborns. During this period, 26 individuals (19 females and 7 males) with 21-hydroxylase deficiency (21-OHD) were detected. Of the 26 CAH, 20 were classified as having the salt-wasting (SW) form, 4 were classified as having the simple virilizing (SV) form, and 2 were classified as having the noncalssic (NC) form. Therefore, the frequency of the classical type of CAH was 1 in 20,756. In order to improve the effectiveness, we employed high-performance liquid chromatography (HPLC) as a second tier test from 2000. During this period, among the recalled babies, 75.4% were born prior to the 37th wk of gestation age, and the recall rate was 5.38% for premature neonates and 0.06% for mature neonates. MS for CAH in Sapporo is effective for the identification of the SW and SV forms of 21-OHD. However, the recall rate of premature babies is still high after the introduction of HPLC as a second tier test.

  14. Maternal and neonatal factors associated with mode of delivery under a universal newborn hearing screening programme in Lagos, Nigeria

    OpenAIRE

    Solanke Olumuyiwa A; Olusanya Bolajoko O

    2009-01-01

    Abstract Background Emerging evidence from a recent pilot universal newborn hearing screening (UNHS) programme suggests that the burden of obstetric complications associated with mode of delivery is not limited to maternal and perinatal mortality but may also include outcomes that undermine optimal early childhood development of the surviving newborns. However, the potential pathways for this association have not been reported particularly in the context of a resource-poor setting. This study...

  15. The feasibility of hospital-based universal newborn hearing screening in the United Kingdom.

    Science.gov (United States)

    Albuquerque, W; Kemp, D T

    2001-01-01

    Current hearing screening programmes in the United Kingdom are performing unacceptably poorly. Davies et al. (1997) suggested that universal newborn hearing screening (UNHS) would be more effective and cheaper to run. However, there is concern that hospital-based UNHS would not be feasible because of early postnatal discharge, and thus babies not staying in hospital long enough to be screened. Two studies were designed to determine the viability of hospital-based UNHS in a district general hospital in the United Kingdom. Study 1 retrospectively determined the discharge age and time of discharge of all 3021 well babies born at St Helier hospital, Carshalton, and the number of babies born at home in the area, from 19 October 1997-18 October 1998. Most well babies were found to pass through hospital at a convenient time for predischarge hearing screening, and the optimal protocol was screening from 9 am-2 pm, 7 days a week. The predicted maximal screening coverage was 92.68%. Study 2 tested the calculated optimal protocol over 1 week. It was found that UNHS with otoacoustic emissions on the maternity ward from 9 am-2 pm, 7 days a week, achieved a coverage of 89.06%, with an acceptable false positive rate of 6.2%. It is likely that a similar protocol with slight modifications could be implemented successfully in other hospitals in the United Kingdom.

  16. Universal newborn hearing screening: preliminary experience at the University Hospital of Cagliari

    Directory of Open Access Journals (Sweden)

    Giulia Pinna

    2012-10-01

    Full Text Available Bilateral congenital or acquired sensorineural hearing loss is a pathological condition affecting 1-2 children per 1,000 live births; it represents a major issue in public health because its late identification can negatively affect speech and language development. The aim of hearing screening is to obtain diagnosis and management of hearing loss as soon as possible; in fact early diagnosis and treatment allow children with congenital hearing impairment to acquire adequate linguistic competence. The present study reports our preliminary experience in newborn hearing screening at Neonatology services of University of Cagliari (Italy. During the first semester of surveillance, between January 2012 and June 2012, hearing screening was performed on a total of 901 babies using two different methods, TEOAEs in healthy neonates and automated ABR in high-risk babies. All infants were screened prior to hospital discharge; in some cases, especially for preterm infants of Neonatal Intensive Care Unit and Puericulture Institute, the screening was performed after discharge, to achieve a possible better global and acoustic maturation; 5 cases of hearing impairment were found. In the present study the Authors confirmed that it is possible to start a universal hearing screening in a relatively short time reaching the percentages suggested by Joint Committee on Infant Hearing.

  17. Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study.

    Science.gov (United States)

    Chuang, Chih-Kuang; Lin, Hsiang-Yu; Wang, Tuan-Jen; Huang, Sung-Fa; Lin, Shuan-Pei

    2017-07-13

    Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become available with optimal outcomes associated with early diagnosis and treatment which can be achieved by newborn screening. Newborn screening programme for MPS IVA pilot study. MacKay Memorial Hospital (MMH), Taipei and another three branch hospitals in Taiwan. A total of 7415 newborns were born in four branch hospitals of MMH and had joined the MPS IVA newborn screening programme. Written informed consents were obtained from parents prior to the screening process (12MMHIS188 approved by MacKay Memorial Hospital Institutional Review Board). An alternative newborn screening method for MPS IVA has been performed. Screening involved measuring the quantity of GALNS in dried blood spot (DBS) from newborn infants using the Bio-Plex immunoassay. The amount of fluorescence sorting detected by yttrium aluminium garnet laser was proportional to the quantity of GALNS protein. Of the 7415 neonates analysed, eight infants whose GALNS levels were below the cut-off value of 8.30 µg/L had been recalled for a second DBS collection. The reference values were 8.30-27.43 µg/L. In patients with confirmed MPS IVA (n=11), the GALNS quantities were far below 5% of the normal population. The Bio-Plex immunoassay is a validated method used for measuring GALNS protein in DBS and has the potential to be adopted for MPS IVA newborn screening study design. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  18. Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

    Directory of Open Access Journals (Sweden)

    Xin Fan MD

    2015-01-01

    Full Text Available Background. A newborn screening program (NSP for congenital hypothyroidism (CH was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH or transient CH (TCH after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

  19. Transient evoked oto-acoustic emission screening in newborns in Bogotá, Colombia: a retrospective study.

    Science.gov (United States)

    Rojas, Jorge A; Bernal, Jaime E; García, Mary A; Zarante, Ignacio; Ramírez, Natalia; Bernal, Constanza; Gelvez, Nancy; Tamayo, Marta L

    2014-10-01

    The aim of this study was to investigate the characteristics and performance of transient evoked oto-acoustic emission (TEOAE) hearing screening in newborns in Colombia, and analyze all possible variables and factors affecting the results. An observational, descriptive and retrospective study with bivariate analysis was performed. The study population consisted of 56,822 newborns evaluated at the private institution, PREGEN. TEOAE testing was carried out as a pediatric hearing screening test from December 2003 to March 2012. The database from PREGEN was revised, and the protocol for evaluation included the same screening test performed twice. Demographic characteristics were recorded and the newborn's background was evaluated. Basic statistics of the qualitative and quantitative variables, and statistical analysis were obtained using the chi-square test. Of the 56,822 records examined, 0.28% were classed as abnormal, which corresponded to a prevalence of 1 in 350. In the screened newborns, 0.08% had a major abnormality or other clinical condition diagnosed, and 0.29% reported a family history of hearing loss. A prevalence of 6.7 in 10,000 was obtained for microtia, which is similar to the 6.4 in 10,000 previously reported in Colombia (database of the Latin-American Collaborative Study of Congenital Malformations - ECLAMC). Statistical analysis demonstrated an association between presenting with a major anomaly and a higher frequency of abnormal results on both TEOAE tests. Newborns in Colombia do not currently undergo screening for the early detection of hearing impairment. The results from this study suggest TEOAE screening tests, when performed twice, are able to detect hearing abnormalities in newborns. This highlights the need to improve the long-term evaluation and monitoring of patients in Colombia through diagnostic tests, and to provide tests that are both sensitive and specific. Furthermore, the use of TEOAE screening is justified by the favorable cost

  20. Results of ultrasound screening of the hips in newborns and infants

    Directory of Open Access Journals (Sweden)

    Džoleva-Tolevska Roza

    2012-01-01

    Full Text Available The aim of this study is to analyze the results of ultrasound screening of the hips in newborns and infants and to establish the importance of ultrasonography in early diagnosis and treatment of developmental dysplasia of the hips (DDH. Material and Methods: In 2010, at the Clinic for orthopedic surgery in Skopje, 6333 newborns and infants were examined. They were classified in 2 groups: first group consisted of patients with normal ultrasound findings and second group consisted of patients with DDH on ultrasound finding. Patients underwent clinical examination and ultrasonography of the hips. Results: We examined 6333 newborns and infants up to 6 months of age. 3213 were female and 3120 were male. In the first group there were 5932 (93.67% patients with normal ultrasound of the hip-Graf Type 1. In the second group there were 401 (6.33% patients with DDH on ultrasound. The patients of the second group were divided in 3 types according to Graf method. Graf Type 2-Patients with dysplasia 378 (5.97% subdivided in 2a- 260 (4.11% patients, 2b 85 (1.34% patients and 2c 33 (0.52% patients. Graf Type 3 - Patients with subluxation of the hip 9 (0.1%, subdivided in 3a 3 (0.05% patients and 3b 3 (0.5% patients. Graf Type 4 -Patients with luxation of the hip 17 (0.27% patients. 124 patients (30.5% with DDH had an associated risk factors (65 patients with positive family history, 48 patients with breech delivery and 11 patients with clubfoot deformity. 387 patients with dysplasia and subluxation of the hips were treated with abduction brace and Pavlik harness. 17 patients with luxation of the hips were treated with exercises and overhead traction of the muscles, close reduction of the hip placed in spica cast or open reduction. Conclusion: Ultrasound screening of hips in newborns and infants is important for early diagnosis of DDH. This is necessary for adequate treatments. If this disease is not treated properly it gives long term morbidity such as gait

  1. Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.

    Science.gov (United States)

    Shigematsu, Yosuke; Hata, Ikue; Tajima, Go

    2010-10-01

    Common use of pivalate-generating antibiotics in newborns in Japan and low cutoff value of C5-acylcarnitine (C5) to detect mild forms of isovaleric acidemia (IVA) led to 1,065 positive results from IVA screening among 146,000 newborns tested by tandem mass spectrometry over the last 3 years. Using our method to determine isovalerylglycine (IVG) levels in dried blood spots (DBS) as a second-tier test with IVG cutoff value of 0.5 nmol/ml in DBS, one patient with severe IVA was identified, and no recall of the second DBS was needed. Retrospective analysis revealed that most patients with moderate to severe forms of IVA have decreased free-carnitine levels shortly after birth and higher levels of IVG than those of C5, which suggests that this method is useful in evaluating the severity of IVA. Another second-tier test, to measure methylmalonic acid (MMA) levels in DBS by gas chromatography/mass spectrometry (GC/MS), has been developed to overcome difficulties in screening methylmalonic aciduria (MMAU) and propionic acidemia. Methanol extract from DBS was dried and derivatized using N-methyl-N-(tert-butyldimethylsilyl)-trifluoroacetamide. GC/MS was performed using splitless injection, electron-impact ionization, and selected ion monitoring for data recording. MMAU patients had much higher DBS concentrations of MMA (24.2-321.9 nmol/ml) than control newborns (0.34 ± 0.11 nmol/ml). MMA measurement in DBS was thought to provide useful information about the severity of MMAU, as MMAU patients with high levels of MMA had decreased levels of free carnitine and mildly increased levels of propionylcarnitine.

  2. Newborn screening for hunter disease: a small-scale feasibility study.

    Science.gov (United States)

    Ruijter, G J G; Goudriaan, D A; Boer, A M; Van den Bosch, J; Van der Ploeg, A T; Elvers, L H; Weinreich, S S; Reuser, A J

    2014-01-01

    Hunter disease (Mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). Two main therapies have been reported for MPS II patients: enzyme-replacement therapy (ERT) and hematopoietic stem-cell transplantation (HSCT). Both treatment modalities have been shown to improve some symptoms, but the results with regard to cognitive functioning have been poor. Early initiation of therapy, i.e., before neurological symptoms have manifested, may alter cognitive outcome. The need for early identification makes Hunter disease a candidate for newborn screening (NBS). Our objective was to explore the use of a fluorometric assay that could be applicable for high-throughput analysis of IDS activity in dried blood spots (DBS). The median IDS activity in DBS samples from 1,426 newborns was 377 pmol/punch/17 h (range 78-1111). The IDS activity in one sample was repeatedly under the cutoff value (set at 20% of the median value), which would imply a recall rate of 0.07%. A sample from a clinically diagnosed MPS II individual, included in each 96-well test plate, had IDS activities well below the 20% cutoff value. Coefficients of variation in quality control samples with low, medium, and high IDS activities (190, 304, and 430 pmol/punch/17 h, respectively) were 12% to 16%. This small-scale pilot study shows that newborn screening for Hunter disease using a fluorometric assay in DBS is technically feasible with a fairly low recall rate. NBS may allow for identification of infants with Hunter disease before clinical symptoms become evident enabling early intervention.

  3. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

    Science.gov (United States)

    Evans, Maureen; Andresen, Brage S; Nation, Judy; Boneh, Avihu

    2016-08-01

    Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10-15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Herein, we describe our experience in treating patients (n=22) diagnosed through newborn screening and mutational confirmation and followed up over a median period of 104months. We report five novel mutations. In 2013 we formalised our treatment protocol, which essentially follows a European consensus paper from 2009 and our own experience. The prescribed low natural fat diet is relaxed for patients who are asymptomatic when reaching age 5years but medium-chain triglyceride oil is recommended before and after physical activity regardless of age. Metabolic stability, growth, development and cardiac function are satisfactory in all patients. There were no episodes of encephalopathy or hypoglycaemia but three patients had episodes of muscle pain with our without rhabdomyolysis. Body composition studies showed a negative association between dietary protein intake and percent body fat. Larger patient cohort and longer follow up time are required for further elucidation of genotype-phenotype correlations and for establishing the role of dietary protein in metabolic stability and long-term healthier body composition in patients with VLCAD deficiency.

  4. Delayed cystic fibrosis presentation in children in the absence of newborn screening.

    LENUS (Irish Health Repository)

    Jackson, A

    2010-04-01

    Newborn cystic fibrosis (CF) screening facilitates early diagnosis and nutritional intervention, which prevents malnourishment and improves growth in childhood. To provide baseline information on the natural history of CF in the Republic of Ireland, where newborn screening has not yet been introduced and CF incidence is high (1:1353 live births), we examined the effect of presentation mode, symptom type and gender on age at diagnosis. Median age at diagnosis was calculated by gender and for presentation mode\\/symptom type for 601 CF registry children diagnosed 1986-2007. Modes of presentation were each significantly associated with delayed presentation. An adjusted odds ratio of 4.5 (95% CI: 1.8, 11.1) was determined for presentation with family history, 43.1 for gastrointestinal symptoms presentation (95% CI: 18.3, 101.4), 96.9 for both respiratory and gastrointestinal symptoms (95% CI: 38.6, 243,4), and 115.4 for respiratory symptoms (95% CI: 45.2, 294.7). Children with respiratory symptoms had the greatest likelihood of delayed diagnosis (median age: 20.4 months), followed by those with respiratory and gastrointestinal symptoms (9.2 months). Gender was not significantly associated with a delayed presentation when presentation mode was taken into account.

  5. Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

    Directory of Open Access Journals (Sweden)

    Shane C. Quinonez

    2014-01-01

    Full Text Available Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH, α-ketoglutarate dehydrogenase (αKGDH, and pyruvate dehydrogenase (PDH. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype. As a variant form of MSUD, it is considered a core condition recommended for newborn screening. The detection of variant MSUD forms has proven difficult in the past with no asymptomatic DLD deficiency patients identified by current newborn screening strategies. Citrulline has recently been identified as an elevated dried blood spot (DBS metabolite in symptomatic patients affected with DLD deficiency. Here we report the retrospective DBS analysis and second-tier allo-isoleucine testing of 2 DLD deficiency patients. We show that an elevated citrulline and an elevated allo-isoleucine on second-tier testing can be used to successfully detect DLD deficiency. We additionally recommend that DLD deficiency be included in the “citrullinemia/elevated citrulline” ACMG Act Sheet and Algorithm.

  6. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency.

    Science.gov (United States)

    Kubiak, Catherine; Jyonouchi, Soma; Kuo, Caroline; Garcia-Lloret, Maria; Dorsey, Morna J; Sleasman, John; Zbrozek, Arthur S; Perez, Elena E

    2014-01-01

    In the United States, newborn screening (NBS) is currently recommended for identification of 31 debilitating and potentially fatal conditions. However, individual states determine which of the recommended conditions are screened. The addition of severe combined immunodeficiency (SCID) screening to the recommended NBS panel has been fully instituted by 18 states, with another 11 states piloting programs or planning to begin screening in 2014. Untreated, SCID is uniformly fatal by 2 years of age. Hematopoietic stem cell transplantation usually is curative, but the success rate depends on the age at which the procedure is performed. Short-term implementation costs may be a barrier to adding SCID to states' NBS panels. A retrospective economic analysis was performed to determine the cost-effectiveness of NBS for early (5 times higher ($350,252 vs $66,379), and operating room-anesthesia charges were approximately 4 times higher ($57,105 vs $15,885). The cost-effectiveness of early treatment for SCID provides a strong economic rationale for the addition of SCID screening to NBS programs of other states.

  7. International cooperation in neonatal screening: technical training course for newborn and infant screening.

    Science.gov (United States)

    Fukushi, M; Hanai, J; Yamaguchi, A; Mikami, A; Honma, K; Nomura, Y; Arai, O; Tagami, Y; Oda, H; Fujita, K

    1999-01-01

    We report the outline and results of our experience with a group training course of neonatal screening for health care professionals in developing countries. Sapporo City Institute of Public Health (SCIPH) has been offered a training course on neonatal screening once a year since 1991 under the Technical Training Program of the Japan International Cooperation Agency (JICA). The aims of this training course are to enhance the participants' technical knowledge and skills, and also to deepen their understanding of the principle of neonatal screening as well as the relevant diseases. Lectures and laboratory practice on phenylketonuria (PKU), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and neuroblastoma are included in the 3-month program. After the completion of the training, participants are expected to play a major role in establishing and expanding neonatal screening system in each of their countries. We have received a total of 67 participants from 25 countries until March 1998: 58 pediatricians; 2 gynecologists; 6 biochemists; 1 administrative officer. After they returned to their countries, 11 engaged in neonatal screening and started PKU and CH screening in their institute, city or province in Argentina, Brazil, Mexico, Peru and Thailand. We believe that these results fulfilled our objectives. Also, for follow-up, SCIPH has been giving information and consultation to the participants on requests. This international cooperation network could also benefit our present network of the International Society Screening in the future.

  8. Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia.

    Science.gov (United States)

    Sarafoglou, Kyriakie; Banks, Kathryn; Gaviglio, Amy; Hietala, Amy; McCann, Mark; Thomas, William

    2012-11-01

    Newborn screening (NBS) for the classic forms of congenital adrenal hyperplasia (CAH) is mandated in all states in the United States. Compared with other NBS disorders, the false-positive rate (FPR) of CAH screening remains high and has not been significantly improved by adjusting 17α-hydroxyprogesterone cutoff values for birth weight and/or gestational age. Minnesota was the first state to initiate, and only 1 of 4 states currently performing, second-tier steroid profiling for CAH. False-negative rates (FNRs) for CAH are not well known. This is a population-based study of all Minnesota infants (769,834) born 1999-2009, grouped by screening protocol (one-tier with repeat screen, January 1999 to May 2004; two-tier with second-tier steroid profiling, June 2004 to December 2009). FPR, FNR, and positive predictive value (PPV) were calculated per infant, rather than per sample, and compared between protocols. Overall, 15 false-negatives (4 salt-wasting, 11 simple-virilizing) and 45 true-positives were identified from 1999 to 2009. With two-tier screening, FNR was 32%, FPR increased to 0.065%, and PPV decreased to 8%, but these changes were not statistically significant. Second-tier steroid profiling obviated repeat screens of borderline results (355 per year average). In comparing the 2 screening protocols, the FPR of CAH NBS remains high, the PPV remains low, and false-negatives occur more frequently than has been reported. Physicians should be cautioned that a negative NBS does not necessarily rule out classic CAH; therefore, any patient for whom there is clinical concern for CAH should receive immediate diagnostic testing.

  9. Efficacy of screening immune system function in at-risk newborns.

    Science.gov (United States)

    Pavlovski, Christopher J

    2014-01-01

    This paper explores the introduction of a screening test to highlight impaired immune system status for newborn infants and its efficacy as a preventative clinical measure. Moreover, it is suggested that screening of the infantile immune system has the potential to highlight susceptibility to a range of infant and childhood diseases, bestowing an opportunity to introduce early intervention to reduce the incidence of these diseases. Development of the neonatal immune system is an important health issue, implicated in many childhood problems such as allergies, infection, and autoimmunity. The neonate has a limited immune system and ability to combat bacteria. Depleted levels of the tripeptide reduced glutathione (GSH) have been linked to numerous conditions and its intracellular level is acknowledged as an indicator of immune system function. Introduction of an immune system screening programme for infants is formally reviewed and assessed. Several benefits are reported in the treatment of impaired immune systems, a trial screening programme is proposed for at-risk infants to gather further evidence as to its efficacy. Infants at risk of impaired immune system function include cystic fibrosis, premature infants, and low birth weight infants. The interventions include breastfeeding, milk banks, and appropriate formula to support the immune system.

  10. Triagem neonatal: o que os pediatras deveriam saber Newborn screening: what pediatricians should know

    Directory of Open Access Journals (Sweden)

    Letícia Lima Leão

    2008-08-01

    Full Text Available OBJETIVO: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal. FONTES DOS DADOS: Artigos científicos selecionados por meio de pesquisa feita nos sites de busca médica MEDLINE, Cochrane, PubMed (MeSH e MD Consult, usando as palavras-chave newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics e seus correspondentes em português de forma isolada e combinada, livros médicos sobre genética e erros inatos do metabolismo, publicados entre janeiro de 1998 e dezembro de 2007, manual de normas técnicas e rotinas do Programa Nacional de Triagem Neonatal, portaria 822/2001, do Ministério da Saúde. SÍNTESE DOS DADOS: Os dados da literatura mostram grande diversidade no número de doenças incluídas na triagem neonatal em cada país. No Brasil, foi criado o Programa Nacional de Triagem Neonatal em 2001, determinando a realização da triagem para fenilcetonúria, hipotireoidismo congênito, doença falciforme e fibrose cística. A triagem ampliada por espectrometria de massa é, hoje, motivo de controvérsias e discussões sobre questões financeiras e éticas. CONCLUSÕES: A triagem neonatal representa um dos principais avanços para a prevenção de doenças na pediatria. Entretanto, sua implantação é complexa, multidisciplinar, depende de políticas públicas de saúde e não há, até o momento, consenso sobre quais doenças devam ser incluídas. Diversas questões científicas e éticas precisam ser discutidas para melhor definição dos painéis a serem seguidos. O pediatra tem papel importante em todas as etapas dos programas de triagem neonatal.OBJECTIVE: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. SOURCES: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane

  11. Anthropometric surrogates for screening of low birth weight newborns: a community-based study.

    Science.gov (United States)

    Rustagi, Neeti; Prasuna, J G; Taneja, D K

    2012-03-01

    In developing countries, where about 75% of births occur at home or in the community, logistic problems prevent the weighing of every newborn child. This study compares various anthropometric surrogates for identification of low birth weight neonates. A longitudinal community based study was done in an urban resettlement colony and 283 singleton neonates within 7 days of birth were examined for the anthropometric measurements such as head, chest, mid upper arm circumference and foot length as a screening tool for low birth weight. Chest circumference measured within 7 days of birth appeared to be the most appropriate surrogate of low birth weight with highest sensitivity (75.4%), specificity (78.4%), and positive predictive value (48.9%) as compared with other anthropometric parameters. Low birth weight neonates in absence of weighing scales can be early identified by using simple anthropometric measurements for enhanced home-based care and timely referral.

  12. Cord blood IgE. I. IgE screening in 2814 newborn children

    DEFF Research Database (Denmark)

    Hansen, L G; Høst, A; Halken, S;

    1992-01-01

    Screening of total IgE in 2814 cord blood samples was analysed by Phadebas IgE PRIST in 2 1-year birth cohorts (1983-1984 and 1985-1986) in Denmark (n = 1189 + 1625). 48.6% of the sera contained less IgE than the detection limit 0.1 kU/l. Cord blood IgE values greater than or equal to 0.5 kU/l were......E values in the autumn was found. No correlation between cord blood IgE and birth weight or gestational age was demonstrated. Only few newborns had cord blood IgA values greater than 0.014 g/l, calculated as geometric mean cord blood IgA + 2 SD among children with no detectable cord blood IgE, indicating...

  13. Screening of Menkes Disease in Newborns that are likely to Benefit from Copper Treatment | NCI Technology Transfer Center | TTC

    Science.gov (United States)

    The Eunice Kennedy Shriver National Institute of Child Health and Human Development's (NICHD) Molecular Medicine Program is seeking statements of capability or interest from parties interested in collaborative research to further develop, or evaluate on a large-scale, population-based newborn screening for Menkes disease (also known as kinky hair disease).

  14. After the Introduction into the National Newborn Screening Program : Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

    NARCIS (Netherlands)

    Kaufmann, J. O.; Krapels, I. P. C.; Van Brussel, B. T. J.; Zekveld-Vroon, R. C.; Oosterwijk, J. C.; van Erp, F.; van Echtelt, J.; Zwijnenburg, P. J. G.; Petrij, F.; Bakker, E.; Giordano, P. C.

    2014-01-01

    OBJECTIVE: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, β-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated w

  15. After the Introduction into the National Newborn Screening Program : Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

    NARCIS (Netherlands)

    Kaufmann, J. O.; Krapels, I. P. C.; Van Brussel, B. T. J.; Zekveld-Vroon, R. C.; Oosterwijk, J. C.; van Erp, F.; van Echtelt, J.; Zwijnenburg, P. J. G.; Petrij, F.; Bakker, E.; Giordano, P. C.

    2014-01-01

    OBJECTIVE: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, β-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated

  16. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Science.gov (United States)

    2010-04-01

    ... Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Newborn screening test system for amino acids... carnitine, and acyl-carnitine metabolism. (b) Classification. Class II (special controls). The...

  17. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children.

    Science.gov (United States)

    Calonge, Ned; Green, Nancy S; Rinaldo, Piero; Lloyd-Puryear, Michele; Dougherty, Denise; Boyle, Coleen; Watson, Michael; Trotter, Tracy; Terry, Sharon F; Howell, R Rodney

    2010-03-01

    The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is charged with evaluating conditions nominated for addition to the uniform screening panel and consequently making recommendations to the secretary of the US Department of Health and Human Services. This report describes the framework by which the committee approaches its task. Key decision nodes include initial review of every nomination to determine whether conditions are amenable for systematic evidence review, review of systematic evidence reviews conducted by the committee's external review group, and deliberation and formal recommendation for addition or exclusion to the uniform panel. Data analyzed include the accuracy and specificity of screening and diagnostic tests for nominated disorders, the extent of predicted health benefits, harms impact on disease course, and cost from early diagnosis and treatment. The committee process is guided by approaches used by similar entities, but more flexible criteria are sometimes needed to accommodate data limitations stemming from the rarity of many of these conditions. Possible outcomes of committee review range from recommendation to add a nominated condition to the uniform panel; provide feedback on specific gaps in evidence that must be addressed before making a decision; or rejection of a nomination (e.g., because of identified harms). The committee's structured evidence-based assessment of nominated conditions supports a consistently rigorous, iterative and transparent approach to its making recommendations regarding broad population-based screening programs for rare conditions in infants and children.

  18. Heptadecanoylcarnitine (C17) a novel candidate biomarker for propionic and methylmalonic acidemias during expanded newborn screening

    Science.gov (United States)

    Malvagia, Sabrina; Haynes, Christopher A.; Grisotto, Laura; Ombrone, Daniela; Funghini, Silvia; Moretti, Elisa; McGreevy, Kathleen; Buggeri, Annibale; Guerrini, Renzo; Yahyaoui, Raquel; Garg, Uttam; Seeterlin, Mary; Chace, Donald; De Jesus, Victor; la Marca, Giancarlo

    2017-01-01

    Background 3-hydroxypalmitoleoyl-carnitine (C16:1-OH) was recently reported to be elevated in acylcarnitine profile of propionic acidemia (PA) or methylmalonic acidemia (MMA) patients during expanded newborn screening (NBS). High levels of C16:1-OH, combined with other hydroxylated long chain acylcarnitines are related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). Methods The acylcarnitine profile of two LCHADD patients was evaluated using liquid chromatography-tandem mass spectrometric method. A specific retention time was reported for each hydroxylated long chain acylcarnitine. The same method was applied to some neonatal dried blood spots (DBS) from PA and MMA patients presenting abnormal C16:1-OH concentrations. Results The final retention time of the peak corresponding to C16:1-OH in LCHADD patients differed from those in MMA and PA patients. Heptadecanoylcarnitine (C17) has been identified as the novel biomarker specific for PA and MMA patients through high resolution mass spectrometry (Orbitrap) experiments. We found that 21 out of 23 neonates (22 MMA, and 1PA) diagnosed through the Tuscany region NBS program had significantly higher levels of C17 compared to levels detected in controls. Twenty-three maternal deficiencies (21 vitamin B12 deficiency, 1 homocystinuria and 1 gastrin deficiency) and 82 false positive for propionylcarnitine (C3) results were also analyzed. Conclusions This paper reports on the characterization of a novel biomarker able to detect propionate disorders during expanded newborn screening (NBS). The use of this new biomarker may improve the analytical performances of NBS programs especially in laboratories where second tier tests are not performed. PMID:26368264

  19. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

    Science.gov (United States)

    Malvagia, Sabrina; Haynes, Christopher A; Grisotto, Laura; Ombrone, Daniela; Funghini, Silvia; Moretti, Elisa; McGreevy, Kathleen S; Biggeri, Annibale; Guerrini, Renzo; Yahyaoui, Raquel; Garg, Uttam; Seeterlin, Mary; Chace, Donald; De Jesus, Victor R; la Marca, Giancarlo

    2015-10-23

    3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in acylcarnitine profiles of patients with propionic acidemia (PA) or methylmalonic acidemia (MMA) during expanded newborn screening (NBS). High levels of C16:1-OH, combined with other hydroxylated long chain acylcarnitines are related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and trifunctional protein (TFP) deficiency. The acylcarnitine profile of two LCHADD patients was evaluated using liquid chromatography-tandem mass spectrometric method. A specific retention time was determined for each hydroxylated long chain acylcarnitine. The same method was applied to some neonatal dried blood spots (DBSs) from PA and MMA patients presenting abnormal C16:1-OH concentrations. The retention time of the peak corresponding to C16:1-OH in LCHADD patients differed from those in MMA and PA patients. Heptadecanoylcarnitine (C17) has been identified as the novel biomarker specific for PA and MMA patients through high resolution mass spectrometry (Orbitrap) experiments. We found that 21 out of 23 neonates (22 MMA, and 1PA) diagnosed through the Tuscany region NBS program exhibited significantly higher levels of C17 compared to controls. Twenty-three maternal deficiency (21 vitamin B12 deficiency, 1 homocystinuria and 1 gastrin deficiency) samples and 82 false positive for elevated propionylcarnitine (C3) were also analyzed. We have characterized a novel biomarker able to detect propionate disorders during expanded newborn screening (NBS). The use of this new biomarker may improve the analytical performances of NBS programs especially in laboratories where second tier tests are not performed. Copyright © 2015 Elsevier B.V. All rights reserved.

  20. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

    Directory of Open Access Journals (Sweden)

    Alessandra P. Sabarense

    2015-06-01

    Full Text Available OBJECTIVE: To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. METHODS: Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas. Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. RESULTS: Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400. There were 193 deaths (7.4%: 153 with SS/Sß0-talassemia, 34 SC and 6 Sß+thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%, indeterminate (28%, and acute splenic sequestration (14%. In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72. Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. CONCLUSIONS: Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality.

  1. Triagem auditiva neonatal: um estudo na cidade de Curitiba - PR Newborn hearing screening: a study in Curitiba-PR

    Directory of Open Access Journals (Sweden)

    Candice Cristina Stumpf

    2009-09-01

    who had the service, a questionnaire was given in order to collect information on the program. RESULTS: we found that 23.8% of the institutions perform newborn hearing screening. In 20% of them, this service is universal for full term babies, while in 80% of them it is available for premature/high risk babies. All of the services use Transient Evoked Otoacoustic Emissions (TEOAE. CONCLUSION: we concluded that the Brazilian law number 14588 - 22/12/2004 is not being followed. Despite of the need and the importance for early detection of hearing loss, hearing screening is not accomplished in all maternities. In places where such screening takes place, it is not universal.

  2. Cochrane Review: Screening programmes for developmental dysplasia of the hip in newborn infants.

    Science.gov (United States)

    Shorter, Damon; Hong, Timothy; Osborn, David A

    2013-01-01

    ultrasound resulted in no significant difference in late diagnosed DDH but a significant reduction in treatment. No infants in either group received surgery. There is insufficient evidence to give clear recommendations for practice. There is inconsistent evidence that universal ultrasound results in a significant increase in treatment compared to the use of targeted ultrasound or clinical examination alone. Neither of the ultrasound strategies have been demonstrated to improve clinical outcomes including late diagnosed DDH and surgery. The studies are substantially underpowered to detect significant differences in the uncommon event of late detected DDH or surgery. For infants with unstable hips or mildly dysplastic hips, use of delayed ultrasound and targeted splinting reduces treatment without significantly increasing the rate of late diagnosed DDH or surgery. Screening methods for dislocated or improperly formed hips in newborn infants The hip joint is a ball and socket joint. Newborns may have hips that are not in their socket (dislocated) or hips that are improperly formed (dysplasia). Risk factors for hip dysplasia include a family history of a similar problem and female infants delivered in the breech position. The hips of most newborns will be examined clinically after birth and during infancy to determine whether they are stable, unstable or dislocated. Screening for hip dysplasia may prevent the need for late treatment, which is associated with long term hip deformity, gait disturbance and arthritis. However, early screening leads to increased treatment. Treatment may be complicated by damage to the hip due to impairment of the blood supply (avascular necrosis). This review found no studies that compared the benefits and costs of early screening versus not screening for hip problems. Studies that compared the addition of ultrasound to clinical examination reported that when ultrasound was performed on all infants, the rate of treatment increased with no significant

  3. Targeted screening of hip dysplasia in newborns: experience at a district general hospital in Scotland

    Directory of Open Access Journals (Sweden)

    Rahul Tyagi

    2016-09-01

    Full Text Available National Health Service Quality Improvement Scotland (NHS QIS published a health technology scoping report in 2006 acknowledging that there are serious concerns within Scotland in relation to Developmental Dysplasia of Hip (DDH as there is no formal screening program in place and there are significant variations between NHS boards leading to confusion for staff and parents. NHS QIS identified need for audit work to improve hip screening in Scotland. The aim of this study is to review of current practice of selective screening for DDH. All newborns who had their first hip scan during one year period (2014 were included in this retrospective study and followed up until June 2015 to include any surgical intervention for dysplastic hip. Out of 428 babies (856 hip scans, abnormality was seen in 119 babies/147 hips (134 Graf 2a/2b, 10 hips were 2c and 3 hips were Graf grade 3. Average age when first scan was performed was 5 weeks (range 3 weeks to 22 weeks. Analysis of risk factors in 119 babies with abnormal scan was consistent with literature (83 breech, 12 family history, 12 HBW, 10 instability and 2 twins of breech. Twelve babies (16 hips required treatment and were successfully treated in Pavlik harness. There was one case of missed/late dislocation, which lived in outside catchment area for 3 years since birth. During this study period there was no case of avascular necrosis or femoral nerve palsy as a result of treatment. In our experience, selective hip screening by ultrasound scan is useful in avoiding overtreatment and minimizing late presentations.

  4. Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country.

    Science.gov (United States)

    Jawin, Vida; Ang, Hak-Lee; Omar, Asma; Thong, Meow-Keong

    2015-01-01

    Studies on pulse oximetry screening for neonatal sepsis and respiratory disease in a middle-income country are lacking. Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is an effective and life-saving strategy in developed countries. While most studies have reported false-positive results during CCHD screening, they have not elaborated on the detected disease types. We studied the effectiveness and outcomes of pulse oximetry newborn screening for non-cardiac hypoxemic diseases such as neonatal sepsis, respiratory diseases, and CCHD in a middle-income country. In a pilot study performed at the University Malaya Medical Centre (UMMC), Malaysia, all apparently healthy term newborns, delivered at UMMC were screened pre-discharge using pulse oximetry. Echocardiography was performed for newborns that had positive screening results on two separate occasions, 1-h apart. Newborns with normal echocardiograms were evaluated and treated for other non-cardiac diseases. Fifteen of 5247 term newborns had positive screening results. The median age at screening was 20 h. Thirteen newborns (0.24%) had significant non-cardiac diseases: sepsis (n = 2) and respiratory diseases (n = 11) that required hospitalization and treatment. The remaining two newborns with normal antenatal ultrasonograms had positive screening test and confirmed to have CCHD. Another 18 newborns with negative screening test were later admitted for treatment of sepsis (n = 16) and penumonia (n = 2). All newborns were treated and alive at the end of the study. The sensitivity and specificity of pulse oximetry screening for non-cardiac diseases were 42% and 99.9% respectively, and 100% and 99.7% for CCHD, respectively. Routine pulse oximetry screening test was effective in identifying newborns with CCHD and other hypoxemia illnesses, which may led to potential life-threatening condition. This study showed that the expanded use of pulse oximetry has immediate implications for low

  5. Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

    Directory of Open Access Journals (Sweden)

    Mengel Eugen

    2011-06-01

    Full Text Available Abstract Background National newborn screening programmes based on tandem-mass spectrometry (MS/MS and other newborn screening (NBS technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome. Methods In a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated. Results Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in

  6. 957例新生儿听力和聋病易感基因联合筛查结果分析%Study of universal newborn hearing screening and deafness predisposing gene screening in 957 newborns

    Institute of Scientific and Technical Information of China (English)

    原晶晶; 张帆; 张淼; 鲍诗平

    2016-01-01

    目的:探讨新生儿听力和聋病易感基因联合筛查的临床意义。方法选择2014年1~l2月出生后42 d进行听力复查的957例新生儿,听力复筛采用畸变产物耳声发射(DPOAE)结合自动判别听性脑干反应(AABR)。新生儿在出生后3 d内均已采集足跟血检测9个常见耳聋基因突变位点,包括GJB2基因(35 del G、176 del 16、235 del C、299 delAT)、GJB3基因(538 C>T)、SLC26A4基因(IVS7-2A>G、2168 A>G)、线粒体DNA 12S rRNA基因(1555 A>G、1494 C>T)。结果听力复筛通过904例,未通过53例,复筛通过率为94.46%。突变携带者50例,携带率为5.22%。听力复筛通过人群中检测出突变携带者45例,携带率为4.98%;听力复筛未通过人群中检测出突变携带者5例,携带率为9.43%。结论新生儿听力和聋病易感基因联合筛查,可发现部分听力筛查不能发现的高危耳聋新生儿和迟发性耳聋新生儿,并可进行婚育及用药指导。%Objective To investigate the clinic significance of universal newborn screening with deafness pre-disposing genes in newborns. Methods A total of 957 newborns underwent hearing screening at 42 d after birth in our hospital from January 2014 to December 2014. Distortion product otoacoustic emissions (DPOAE) combined with auto-auditory brainstem response (AABR) was used in hearing screening. These newborns had been taken blood sample at heel at 3 d after birth for detecting 9 common deafness genes mutation, including GJB2 (35 del G, 176 del 16, 235 del C, 299 delAT), GJB3 (538 C>T), SLC26A4 (IVS7-2A>G, 2 168 A>G) and mitochondria DNA 12S rRNA (1 555 A>G, 1 494 C>T). Results In 957 newborns of hearing screening, 904 newborns showed“pass”, while 53 showed“refer”. The rate of showing“pass”was 94.46%. Mutation of deafness predisposing genes were detected in 50 cases, and the pos-itive detection rate was 5.22%. Forty-five cases of mutations were detected in the newborns who passed

  7. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).

    Science.gov (United States)

    Verbsky, James W; Baker, Mei W; Grossman, William J; Hintermeyer, Mary; Dasu, Trivikram; Bonacci, Benedetta; Reddy, Sreelatha; Margolis, David; Casper, James; Gries, Miranda; Desantes, Ken; Hoffman, Gary L; Brokopp, Charles D; Seroogy, Christine M; Routes, John M

    2012-02-01

    Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphopenia by the T-cell receptor excision circle assay. In total, 207,696 infants were screened. Seventy-two infants had an abnormal assay. T-cell numbers were normal in 38 infants, abnormal in 33 infants, and not performed in one infant, giving a positive predictive value for T-cell lymphopenia of any cause of 45.83% and a specificity of 99.98%. Five infants with severe combined immunodeficiency/severe T-cell lymphopenia requiring hematopoietic stem cell transplantation or other therapy were detected. In summary, the T-cell receptor excision circle assay is a sensitive and specific test to identify infants with severe combined immunodeficiency and severe T-cell lymphopenia that leads to life-saving therapies such as hematopoietic stem cell transplantation prior to the acquisition of severe infections.

  8. Funding Decisions for Newborn Screening: A Comparative Review of 22 Decision Processes in Europe

    Directory of Open Access Journals (Sweden)

    Katharina Elisabeth Fischer

    2014-05-01

    Full Text Available Decision-makers need to make choices to improve public health. Population-based newborn screening (NBS is considered as one strategy to prevent adverse health outcomes and address rare disease patients’ needs. The aim of this study was to describe key characteristics of decisions for funding new NBS programmes in Europe. We analysed past decisions using a conceptual framework. It incorporates indicators that capture the steps of decision processes by health care payers. Based on an internet survey, we compared 22 decisions for which answers among two respondents were validated for each observation. The frequencies of indicators were calculated to elicit key characteristics. All decisions resulted in positive, mostly unrestricted funding. Stakeholder participation was diverse focusing on information provision or voting. Often, decisions were not fully transparent. Assessment of NBS technologies concentrated on expert opinion, literature review and rough cost estimates. Most important appraisal criteria were effectiveness (i.e., health gain from testing for the children being screened, disease severity and availability of treatments. Some common and diverging key characteristics were identified. Although no evidence of explicit healthcare rationing was found, processes may be improved in respect of transparency and scientific rigour of assessment.

  9. A quality improvement initiative project to evaluate a newborn hearing screening program in a Baby-Friendly Hospital Initiative setting

    Directory of Open Access Journals (Sweden)

    Stacey R. Lim

    2015-02-01

    Full Text Available Hearing loss present from birth can have a detrimental impact on later language and educational outcomes. Newborn hearing screening has allowed early identification and intervention of hearing loss, giving children the opportunity to develop age-appropriate language skills. The aim of this quality initiative study was to evaluate the quality of the newborn hearing screening program in the context of a newly implemented Baby-Friendly Hospital Initiative Program at Summa Health System Akron City Hospital. The goals were (1 to determine whether screening environment (mother’s room vs. nursery affected screening results, (2 to identify challenges and positive outcomes encountered by the audiologists, and (3 to ensure that Pass/Refer rates met state standards. A Quest Technologies sound level meter (Model 1800; St. Paul, MN, USA was used to measure noise levels in the nursery rooms where newborns were tested. The length of screening time was determined using a calibrated SP® Traceable® (ISO 17025 stopwatch (McGraw Park, IL, USA. Pass/Refer rates and observed challenges and benefits were noted. All well-baby infants born in the month of February 2013 (n = 101 were included, and Pass/Refer results were compared to those in years 2008-2012.Noise levels in the mother’s room did not appear to negatively affect the Pass/Refer rates. Some challenges were present, including interruptions and louder environmental noise. This protocol was considered appropriate for assessing a hearing screening program in a Baby-Friendly Hospital Initiative (BFHI setting.Benefits of performing hearing screening in the mother’s room included test transparency for parents and the ability to immediately discuss the results. Results obtained in the mother’s room were comparable to past results obtained in the nursery. Noise levels in the screening rooms and challenges should be noted, to ensure accuracy of screening results.

  10. The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

    Science.gov (United States)

    2013-01-01

    Objective: To explore the future potential of genetic screening to detect newborns at risk of childhood-onset hearing loss. Design: An expert led discussion of current and future developments in genetic technology and the knowledge base of genetic hearing loss to determine the viability of genetic screening and the implications for screening policy. Results and Discussion: Despite increasing pressure to adopt genetic technologies, a major barrier for genetic screening in hearing loss is the uncertain clinical significance of the identified mutations and their interactions. Only when a reliable estimate of the future risk of hearing loss can be made at a reasonable cost, will genetic screening become viable. Given the speed of technological advancement this may be within the next 10 years. Decision-makers should start to consider how genetic screening could augment current screening programmes as well as the associated data processing and storage requirements. Conclusion: In the interim, we suggest that decision makers consider the benefits of (1) genetically testing all newborns and children with hearing loss, to determine aetiology and to increase knowledge of the genetic causes of hearing loss, and (2) consider screening pregnant women for the m.1555A> G mutation to reduce the risk of aminoglycoside antibiotic-associated hearing loss. PMID:23131088

  11. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

    Science.gov (United States)

    Huemer, Martina; Kožich, Viktor; Rinaldo, Piero; Baumgartner, Matthias R; Merinero, Begoña; Pasquini, Elisabetta; Ribes, Antonia; Blom, Henk J

    2015-11-01

    Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency. These conditions can be screened in dried blood spots by determining methionine (Met), methionine-to-phenylanine (Met/Phe) ratio, and total homocysteine (tHcy) as a second tier marker. Therefore, we recommend NBS for cystathionine beta-synthase and severe MTHFR deficiency. Weaker evidence is available for the disorders of intracellular cobalamin metabolism. Early treatment is clearly of advantage for patients with the late-onset cblC defect. In the early-onset type, survival and non-neurological symptoms improve but the effect on neurocognitive development is uncertain. The cblC defect can be screened by measuring propionylcarnitine, propionylcarnitine-to-acetylcarnitine ratio combined with the second tier markers methylmalonic acid and tHcy. For the cblE and cblG defects, evidence for the benefit of early treatment is weaker; and data on performance of Met, Met/Phe and tHcy even more limited. Individuals homozygous or compound heterozygous for MAT1A mutations may benefit from detection by NBS using Met, which on the other hand also detects asymptomatic heterozygotes. Clinical and laboratory data is insufficient to develop any recommendation on NBS for the cblD, cblF, cblJ defects, glycineN-methyltransferase-, S-adenosylhomocysteinehydrolase- and adenosine kinase deficiency.

  12. Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.

    Science.gov (United States)

    Yang, H; Wang, Q; Zheng, L; Zhan, X-F; Lin, M; Lin, F; Tong, X; Luo, Z-Y; Huang, Y; Yang, L-Y

    2015-06-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method. A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR-high-resolution melting (HRM) analysis was then used for the molecular assay. The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis. Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency. © 2014 John Wiley & Sons Ltd.

  13. Have we stopped looking for a red reflex in newborn screening?

    LENUS (Irish Health Repository)

    Sotomi, O

    2012-02-03

    Best medical evidence indicates that surgical treatment of significant congenital cataracts is required within the first 3 months of life for optimal visual outcome. The aim of the present study was to review when the diagnosis of congenital cataracts was made in our region, by whom it was made, and the visual outcome at 2 years of age or more. This was a retrospective study in a region with a population of 546,000 and approximately 8500 births per annum, served by a single Regional Ophthalmology centre. All children under 15 years, diagnosed with Congenital Cataract over a 10-year period (1991-2002), were identified using the Hospital In-Patient Enquiry [HIPE] database. Children with cataract(s) from infancy from a congenital cause and those first presenting outside infancy but with salient clinical features indicating early cataract were included in the study. 27 cases of congenital and infantile cataract 15 (56%) males, 12 (44%) females were retrieved. 17 infants (63%) were diagnosed with bilateral disease, while the remainder were unilateral 10 (37%). Most of the cases 17 (63%) were diagnosed following presentation with parental\\/carer concerns about visual function (usually a squint). However only 2 of these 17 cases presented before 3 months of age. The remaining cases of congenital cataracts were diagnosed by general practitioners 8 (24%), paediatricians 4 (12%), ophthalmologists 3 (9%) or School Medical Officer (1, 3%). No case of congenital cataract was diagnosed by newborn screening examination. Six of 8 infants diagnosed with congenital cataracts before three months of age had a good visual outcome, (visual acuity < 6\\/24 at 2 years or more). In contrast only 3 of 19 cases who were diagnosed after 3 months of age had good visual outcomes. Despite their relative rarity, it is imperative that congenital cataracts are diagnosed and treated within 3 months of birth. The onus of diagnosis rests with newborn screening examiners at birth and with general

  14. Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

    Science.gov (United States)

    Gramer, Gwendolyn; Abdoh, Ghassan; Ben-Omran, Tawfeg; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Fang-Hoffmann, Junmin; Hoffmann, Georg F; Al Rifai, Hilal; Okun, Jürgen G

    2017-04-01

    Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-ß-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers. Proposed cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany. Over a 12 months period, the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%, while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar. In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation disorder. Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cut-offs used in the proposed new strategy. In addition, an adapted strategy for Germany using methionine, methionine-phenylalanine-ratio and propionylcarnitine as first-tier, and homocysteine as a second-tier test was also positively evaluated retrospectively. The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening

  15. Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test.

    Science.gov (United States)

    Tluczek, Audrey; Koscik, Rebecca L; Modaff, Peggy; Pfeil, Darci; Rock, Michael J; Farrell, Philip M; Lifchez, Caroline; Freeman, Mary Ellen; Gershan, William; Zaleski, Christina; Sullivan, Bradley

    2006-08-01

    Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents' preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents' preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents' distress while mismatched counseling tended to increase parents' worry about their infant.

  16. Error analysis in newborn screening: can quotients support the absolute values?

    Science.gov (United States)

    Arneth, Borros; Hintz, Martin

    2017-03-01

    Newborn screening is performed using modern tandem mass spectrometry, which can simultaneously detect a variety of analytes, including several amino acids and fatty acids. Tandem mass spectrometry measures the diagnostic parameters as absolute concentrations and produces fragments which are used as markers of specific substances. Several prominent quotients can also be derived, which are quotients of two absolute measured concentrations. In this study, we determined the precision of both the absolute concentrations and the derived quotients. First, the measurement error of the absolute concentrations and the measurement error of the ratios were practically determined. Then, the Gaussian theory of error calculation was used. Finally, these errors were compared with one another. The practical analytical accuracies of the quotients were significantly higher (e.g., coefficient of variation (CV) = 5.1% for the phenylalanine to tyrosine (Phe/Tyr) quotient and CV = 5.6% for the Fisher quotient) than the accuracies of the absolute measured concentrations (mean CVs = 12%). According to our results, the ratios are analytically correct and, from an analytical point of view, can support the absolute values in finding the correct diagnosis.

  17. Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois.

    Science.gov (United States)

    Hart, Alexa; Petros, Michael; Charrow, Joel; Nash, Claudia; Wicklund, Catherine

    2015-06-01

    Storage and use of residual dried blood spots (DBS) from newborn screening (NBS) for research purposes has been a topic of elevated interest following high profile disputes between genetic privacy advocacy groups and state NBS programs. Our objective was to assess public opinion in Illinois regarding storage and use of residual DBS for research. Five hundred twenty-six Illinois residents completed a survey assessing attitudes about research uses for DBS, storage length, and consent issues. Over 80 % of respondents expressed agreement with questions regarding research uses of DBS. Eighty-three percent of respondents were in favor of storage for at least one year with 44 % favoring indefinite storage. Respondents with higher educational attainment were more likely to support research use of DBS and less likely to desire contact for each future study (P research or to favor long-term storage (P public health program. Trust in the public health service of NBS must be protected through transparency in the policy process.

  18. Education and parental involvement in decision-making about newborn screening: understanding goals to clarify content.

    Science.gov (United States)

    Potter, Beth K; Etchegary, Holly; Nicholls, Stuart G; Wilson, Brenda J; Craigie, Samantha M; Araia, Makda H

    2015-06-01

    A challenge in designing effective education for parents about newborn screening (NBS) has been uncertainty about appropriate content. Arguing that the goals of education may be usefully tied to parental decision-making, we sought to: (1) explore how different ways of implementing NBS differ in their approaches to parental engagement in decision-making; (2) map the potential goals of education onto these "implementation models"; and (3) consider the content that may be needed to support these goals. The resulting conceptual framework supports the availability of comprehensive information about NBS for parents, irrespective of the model of implementation. This is largely because we argue that meeting parental expectations and preferences for communication is an important goal regardless of whether or notparents are actively involved in making a decision. Our analysis supports a flexible approach, in which some educational messages are emphasized as important for all parents to understand while others are made available depending on parents' preferences. We have begun to define the content of NBS education for parents needed to support specific goals. Further research and discussion is important to determine the most appropriate strategies for delivering the tailored approach to education that emerged from our analysis.

  19. Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta

    Directory of Open Access Journals (Sweden)

    Stefan Kostadinov

    2016-01-01

    Full Text Available Severe combined immunodeficiency (SCID, a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T- lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs by real time quantitative PCR (RT-qPCR. This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and a massive perivillous fibrin deposition (MPFD of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening.

  20. Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

    Science.gov (United States)

    Cheng, Kang-Hsiang; Liu, Mei-Ying; Kao, Chuan-Hong; Chen, Yann-Jang; Hsiao, Kwang-Jen; Liu, Tze-Tze; Lin, Hsiang-Yu; Huang, Cheng-Hung; Chiang, Chuan-Chi; Ho, Huey-Jane; Lin, Shuan-Pei; Lee, Ni-Chung; Hwu, Wuh-Liang; Lin, Ju-Li; Hung, Ping-Yao; Niu, Dau-Ming

    2010-06-01

    The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening. Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology. A total of 22 newborns were referred to confirmatory medical centers, and 7 were confirmed as having MMA. The initial propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio, plasma ammonia, liver function tests, blood pH and bicarbonate were compared between the true-positive and false-positive groups. The C3/C2 ratio and plasma ammonia were markedly higher in the true-positive MMA group (p 0.4 or ammonia levels > 200 mg/dL should be highly suspected of having MMA. Copyright (c) 2010 Elsevier. Published by Elsevier B.V. All rights reserved.

  1. 新生儿听力筛查情况分析%Analysis of newborn hearing screening

    Institute of Scientific and Technical Information of China (English)

    李海宏; 于颖; 马丽霞; 马建荣

    2011-01-01

    Objective To popularize newborn hearing screening and detect and treat congenital hearing disorder early, so as to decrease the incidence of deaf-and-dumb, reduce family burden and improve population quality. Methods Transit evoked otoacousitc emission ( TEOAE ) was used for preliminary screening, and secondary screening was conducted for newborns who didn' t accomplish. Newborns who didn' t accomplish secondiary screening were transfetred to superior hospitals for diagnosis and treatment. Results Hearing screening rate, preliminary screening rate, secondary screening rate and abnormal rate was 99. 95%, 98. 95%, 100. 00% and 0. 52%, respectively. There was not any sex difference in incidence of neonatal hearing loss ( P= 1. 000 > 0.05 ). Conclusion The newborns with dysaudia should be screened as early as possible for timely treatment, so as to reduce family and social burden.%目的 普及检查新生儿听力筛查,做到早发现、早治疗先天性听力障碍,对于减少聋哑儿的发生及减轻家庭负担和提高人口素质起到重要作用.方法 采用瞬态诱发耳声发射进行初筛,未通过的进行复筛,复筛未通过的可转到上级医院确诊、治疗.结果 听力筛查率为99.95%,初筛通过率为98.95%,复筛率为100.00%,异常率为0.52‰.新生儿听力损失的发病率无性别差异(P=1.000>0.05).结论 尽早发现患有听力障碍的婴儿,以便使其得到及早的治疗,从而减轻家庭和社会负担.

  2. False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

    Directory of Open Access Journals (Sweden)

    Yang Cao

    2016-01-01

    Full Text Available Background. Noninvasive prenatal screening (NIPS is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the published data for NIPS testing states that the current technique ensures high sensitivity and specificity for aneuploidy detection, false positives are possible due to isolated placental mosaicism, vanishing twin or cotwin demise, and maternal chromosome abnormalities or malignancy. Results. We report a case of false negative cell-free DNA (cfDNA screening due to fetoplacental mosaicism. An infant male with negative cfDNA screening result was born with multiple congenital abnormalities. Postnatal chromosome and FISH studies on a blood specimen revealed trisomy 13 in 20/20 metaphases and 100% interphase nuclei, respectively. FISH analysis on tissues collected after delivery revealed extraembryonic mosaicism. Conclusions. Extraembryonic tissue mosaicism is likely responsible for the false negative cfDNA screening result. This case illustrates that a negative result does not rule out the possibility of a fetus affected with a trisomy, as cffDNA is derived from the placenta and therefore may not accurately represent the fetal genetic information.

  3. Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

    Science.gov (United States)

    Navarrete-Martínez, Juana Inés; Limón-Rojas, Ana Elena; Gaytán-García, Maria de Jesús; Reyna-Figueroa, Jesús; Wakida-Kusunoki, Guillermo; Delgado-Calvillo, Ma Del Rocío; Cantú-Reyna, Consuelo; Cruz-Camino, Héctor; Cervantes-Barragán, David Eduardo

    2017-05-01

    To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis. From July 2012 to April 2016, 20,018 patients were screened; 20 patients were confirmed to have an LSD phenotype (99.9 in 100,000 newborns). Final distributions include 11 Pompe disease, five Fabry disease, two MPS-I, and two Niemann-Pick type A/B patients. We did not find any Gaucher or Krabbe patients. A final frequency of 1 in 1001 LSD newborn phenotypes was established. NBS is a major public health achievement that has decreased the morbidity and mortality of inborn errors of metabolism. The introduction of NBS for LSD presents new challenges. This is the first multiplex Latin-American study of six LSDs detected through NBS. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Senses and Your Newborn

    Science.gov (United States)

    ... hearing screening. continue Can My Baby Taste or Smell? Newborns can taste and smell and will favor sweet tastes over bitter ones. ... sour to taste. Likewise, newborns will turn toward smells they favor and turn away from bad odors. ...

  5. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

    Science.gov (United States)

    McHugh, David M S; Cameron, Cynthia A; Abdenur, Jose E; Abdulrahman, Mahera; Adair, Ona; Al Nuaimi, Shahira Ahmed; Åhlman, Henrik; Allen, Jennifer J; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Auray-Blais, Christiane; Baker, Mei; Bamforth, Fiona; Beckmann, Kinga; Pino, Gessi Bentz; Berberich, Stanton L; Binard, Robert; Boemer, François; Bonham, Jim; Breen, Nancy N; Bryant, Sandra C; Caggana, Michele; Caldwell, S Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Bryant, Sandra C; Caggana, Michele; Caldwell, S Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Cariappa, Rohit; Carlisle, Clover; Caruso, Ubaldo; Cassanello, Michela; Castilla, Ane Miren; Ramos, Daisy E Castiñeiras; Chakraborty, Pranesh; Chandrasekar, Ram; Ramos, Alfredo Chardon; Cheillan, David; Chien, Yin-Hsiu; Childs, Thomas A; Chrastina, Petr; Sica, Yuri Cleverthon; de Juan, Jose Angel Cocho; Colandre, Maria Elena; Espinoza, Veronica Cornejo; Corso, Gaetano; Currier, Robert; Cyr, Denis; Czuczy, Noemi; D'Apolito, Oceania; Davis, Tim; de Sain-Van der Velden, Monique G; Delgado Pecellin, Carmen; Di Gangi, Iole Maria; Di Stefano, Cristina Maria; Dotsikas, Yannis; Downing, Melanie; Downs, Stephen M; Dy, Bonifacio; Dymerski, Mark; Rueda, Inmaculada; Elvers, Bert; Eaton, Roger; Eckerd, Barbara M; El Mougy, Fatma; Eroh, Sarah; Espada, Mercedes; Evans, Catherine; Fawbush, Sandy; Fijolek, Kristel F; Fisher, Lawrence; Franzson, Leifur; Frazier, Dianne M; Garcia, Luciana R C; Bermejo, Maria Sierra García-Valdecasas; Gavrilov, Dimitar; Gerace, Rosemarie; Giordano, Giuseppe; Irazabal, Yolanda González; Greed, Lawrence C; Grier, Robert; Grycki, Elyse; Gu, Xuefan; Gulamali-Majid, Fizza; Hagar, Arthur F; Han, Lianshu; Hannon, W Harry; Haslip, Christa; Hassan, Fayza Abdelhamid; He, Miao; Hietala, Amy; Himstedt, Leslie; Hoffman, Gary L; Hoffman, William; Hoggatt, Philis; Hopkins, Patrick V; Hougaard, David M; Hughes, Kerie; Hunt, Patricia R; Hwu, Wuh-Liang; Hynes, June; Ibarra-González, Isabel; Ingham, Cindy A; Ivanova, Maria; Jacox, Ward B; John, Catharine; Johnson, John P; Jónsson, Jón J; Karg, Eszter; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kozich, Viktor; Kouapei, Rasoul; Kohlmueller, Dirk; Kremensky, Ivo; la Marca, Giancarlo; Lavochkin, Marcia; Lee, Soo-Youn; Lehotay, Denis C; Lemes, Aida; Lepage, Joyce; Lesko, Barbara; Lewis, Barry; Lim, Carol; Linard, Sharon; Lindner, Martin; Lloyd-Puryear, Michele A; Lorey, Fred; Loukas, Yannis L; Luedtke, Julie; Maffitt, Neil; Magee, J Fergall; Manning, Adrienne; Manos, Shawn; Marie, Sandrine; Hadachi, Sônia Marchezi; Marquardt, Gregg; Martin, Stephen J; Matern, Dietrich; Mayfield Gibson, Stephanie K; Mayne, Philip; McCallister, Tonya D; McCann, Mark; McClure, Julie; McGill, James J; McKeever, Christine D; McNeilly, Barbara; Morrissey, Mark A; Moutsatsou, Paraskevi; Mulcahy, Eleanor A; Nikoloudis, Dimitris; Norgaard-Pedersen, Bent; Oglesbee, Devin; Oltarzewski, Mariusz; Ombrone, Daniela; Ojodu, Jelili; Papakonstantinou, Vagelis; Reoyo, Sherly Pardo; Park, Hyung-Doo; Pasquali, Marzia; Pasquini, Elisabetta; Patel, Pallavi; Pass, Kenneth A; Peterson, Colleen; Pettersen, Rolf D; Pitt, James J; Poh, Sherry; Pollak, Arnold; Porter, Cory; Poston, Philip A; Price, Ricky W; Queijo, Cecilia; Quesada, Jonessy; Randell, Edward; Ranieri, Enzo; Raymond, Kimiyo; Reddic, John E; Reuben, Alejandra; Ricciardi, Charla; Rinaldo, Piero; Rivera, Jeff D; Roberts, Alicia; Rocha, Hugo; Roche, Geraldine; Greenberg, Cheryl Rochman; Mellado, José María Egea; Juan-Fita, María Jesús; Ruiz, Consuelo; Ruoppolo, Margherita; Rutledge, S Lane; Ryu, Euijung; Saban, Christine; Sahai, Inderneel; García-Blanco, Maria Isabel Salazar; Santiago-Borrero, Pedro; Schenone, Andrea; Schoos, Roland; Schweitzer, Barb; Scott, Patricia; Seashore, Margretta R; Seeterlin, Mary A; Sesser, David E; Sevier, Darrin W; Shone, Scott M; Sinclair, Graham; Skrinska, Victor A; Stanley, Eleanor L; Strovel, Erin T; Jones, April L Studinski; Sunny, Sherlykutty; Takats, Zoltan; Tanyalcin, Tijen; Teofoli, Francesca; Thompson, J Robert; Tomashitis, Kathy; Domingos, Mouseline Torquado; Torres, Jasmin; Torres, Rosario; Tortorelli, Silvia; Turi, Sandor; Turner, Kimberley; Tzanakos, Nick; Valiente, Alf G; Vallance, Hillary; Vela-Amieva, Marcela; Vilarinho, Laura; von Döbeln, Ulrika; Vincent, Marie-Francoise; Vorster, B Chris; Watson, Michael S; Webster, Dianne; Weiss, Sheila; Wilcken, Bridget; Wiley, Veronica; Williams, Sharon K; Willis, Sharon A; Woontner, Michael; Wright, Katherine; Yahyaoui, Raquel; Yamaguchi, Seiji; Yssel, Melissa; Zakowicz, Wendy M

    2011-03-01

    To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

  6. Canadian Cardiovascular Society/Canadian Pediatric Cardiology Association Position Statement on Pulse Oximetry Screening in Newborns to Enhance Detection of Critical Congenital Heart Disease.

    Science.gov (United States)

    Wong, Kenny K; Fournier, Anne; Fruitman, Deborah S; Graves, Lisa; Human, Derek G; Narvey, Michael; Russell, Jennifer L

    2017-02-01

    Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity. Pulse oximetry screening is safe, noninvasive, easy to perform, and widely available with a high specificity (99.9%) and moderately high sensitivity (76.5%). When an abnormal saturation is obtained, the likelihood of having CCHD is 5.5 times greater than when a normal result is obtained. The use of pulse oximetry combined with current strategies has shown sensitivities of up to 92% for detecting CCHD. False positive results can be minimized by screening after 24 hours, and testing the right hand and either foot might further increase sensitivity. Newborns with abnormal screening results should undergo a comprehensive assessment and echocardiography performed if a cardiac cause cannot be excluded. Screening has been studied to be cost neutral to cost effective. We recommend that pulse oximetry screening should be routinely performed in all healthy newborns to enhance the detection of CCHD in Canada. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  7. Screening programmes for developmental dysplasia of the hip in newborn infants

    Directory of Open Access Journals (Sweden)

    Damon Shorter

    Full Text Available BACKGROUND Uncorrected developmental dysplasia of the hip (DDH is associated with long term morbidity such as gait abnormalities, chronic pain and degenerative arthritis. OBJECTIVE To determine the effect of different screening programmes for DDH on the incidence of late presentation of congenital hip dislocation. METHODS Search methods: Searches were performed in CENTRAL (The Cochrane Library, MEDLINE and EMBASE (January 2011 supplemented by searches of clinical trial registries, conference proceedings, cross references and contacting expert informants. Selection criteria: Randomized, quasi-randomized or cluster trials comparing the effectiveness of screening programmes for DDH. Data collection and analysis: Three independent review authors assessed study eligibility and quality, and extracted data. MAIN RESULTS No study examined the effect of screening (clinical and/or ultrasound and early treatment versus not screening and later treatment. AUTHORS' CONCLUSIONS There is insufficient evidence to give clear recommendations for practice. There is inconsistent evidence that universal ultrasound results in a significant increase in treatment compared to the use of targeted ultrasound or clinical examination alone. Neither of the ultrasound strategies have been demonstrated to improve clinical outcomes including late diagnosed DDH and surgery. The studies are substantially underpowered to detect significant differences in the uncommon event of late detected DDH or surgery. For infants with unstable hips or mildly dysplastic hips, use of delayed ultrasound and targeted splinting reduces treatment without significantly increasing the rate of late diagnosed DDH or surgery.

  8. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

    DEFF Research Database (Denmark)

    Pedersen, Christina B; Bischoff, Claus; Christensen, Ernst;

    2006-01-01

    or compound heterozygous for variations in the IBD gene have been reported. We present IBD deficiency in an additional four newborns with elevated C(4)-carnitine identified by tandem mass spectrometry (MS/MS) screening in Denmark and the United States. Three showed urinary excretions of isobutyryl......-glycine, and in vitro probe analysis of fibroblasts from two newborns indicated enzymatic IBD defect. Molecular genetic analysis revealed seven new rare variations in the IBD gene (c.348C>A, c.400G>T, c.409G>A, c.455T>C, c.958G>A, c.1000C>T and c.1154G>A). Furthermore, sequence analysis of the short-chain acyl...

  9. Indicadores de risco para perda auditiva em neonatos e lactentes atendidos em um programa de triagem auditiva neonatal Risk indicators for hearing loss of newborns and infants in a newborn hearing screening program

    Directory of Open Access Journals (Sweden)

    Silvana Maria Sobral Griz

    2011-04-01

    Full Text Available OBJETIVO: descrever os indicadores de risco para perda auditiva presentes em neonatos e lactentes que realizaram a Triagem Auditiva Neonatal no Hospital das Clínicas da Universidade Federal de Pernambuco, nascidos em 2008. MÉTODOS: foram pesquisados os 787 neonatos e lactentes que realizaram a Triagem Auditiva Neonatal no citado Hospital, nascidos em 2008. Foi montado um banco de dados com informações do formulário com histórico familiar e clínico dos pesquisados e resultado da triagem, para análise dos indicadores de risco. RESULTADOS: os indicadores de risco mais prevalentes na população estudada foram presença de hiperbilirrubinemia, nascimento pré-termo, baixo peso ao nascimento, uso de medicamento durante o período gestacional, permanência em Unidade de Terapia intensiva e presença de infecções intra-uterinas durante a gestação. Os indicadores de risco para perda auditiva com associação estatisticamente significante com o resultado falha na triagem foram nascimento pré-termo, baixo peso, permanência em Unidade de Terapia Intensiva, uso de ventilação mecânica e uso de medicamento ototóxicos. CONCLUSÃO: houve ocorrência de indicadores de risco pré, peri e pós-natais, porém apenas foi encontrada significância estatística entre alguns indicadores peri e pós-natais e a falha na triagem.PURPOSE: to characterize neonates and infants who were born in 2008 and have been submitted to the Newborn Hearing Screening Program of the Federal University of Pernambuco Hospital according to the presence of risk factors related to hearing loss. METHODS: a total of 787 newborns took part in the study. Information from clinical charts and tests results were collected in order set up a database. RESULTS: the most prevalent risk factors for hearing loss in the related population was hyperbilirubinemia, prematurity, low weigh at birth, use of medication during pregnancy, presence of diseases during pregnancy and permanence in a

  10. Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

    Science.gov (United States)

    Al-Jasmi, Fatma A; Al-Shamsi, Aisha; Hertecant, Jozef L; Al-Hamad, Sania M; Souid, Abdul-Kader

    2016-01-01

    This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens. This relatively high prevalence resulted from the frequent consanguineous marriages (81.5%) among affected families. The following eight disorders accounted for 80% of the entities: biotinidase deficiency (14 of 55), phenylketonuria (11 of 55), 3-methylcrotonyl glycinuria (9 of 55), medium-chain acyl-CoA dehydrogenase deficiency (4 of 55), argininosuccinic aciduria, glutaric aciduria type 1, glutaric aciduria type 2, and methylmalonyl-CoA mutase deficiency (2 of 55 each). Mutation analysis was performed in 48 (87%) of the 55 patients, and 33 distinct mutations were identified. Twenty-nine (88%) mutations were clinically significant and, thus, could be included in our premarital screening. Most mutations were homozygous, except for the biotinidase deficiency. The BTD mutations c.1207T>G (found in citizens) and c.424C>A (found in Somalians) were associated with undetectable biotinidase activity. Thus, the high prevalence of IEM in our region is amenable to newborn and premarital screening, which is expected to halt most of these diseases.

  11. Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

    Institute of Scientific and Technical Information of China (English)

    Chloe Miu Mak; Albert Yan-wo Chan; Chun-hung Ko; Ching-wan Lam; Wai-ling Lau; Wai-kwan Siu; Sammy Pak-lam Chen; Chun-yiu Law; Chi-kong Lai; Chak-man Yu

    2011-01-01

    Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia (95 μmol/L), significantly high phenylalnine-to-tyrosine ratio (3.1), and elevated prolactin of 1109 mlU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1:c.259C>T; NP_000308.1: p. P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia clue to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.

  12. Pilot study for utilization of dried blood spots for screening of lead, mercury and cadmium in newborns.

    Science.gov (United States)

    Chaudhuri, Sanwat N; Butala, Steven J M; Ball, R Wayne; Braniff, Christopher T

    2009-03-01

    The exposure of pregnant women and young children to environmental pollutants is an ongoing concern of state and local public health departments. Of primary concern is the exposure to lead in lead-based paints, methyl mercury in contaminated fish and cadmium present at mining sites. The feasibility, utility and methodology of using blood spot cards collected for new born health screening purposes was studied for use in conducting routine state-wide surveillance of blood lead, mercury and cadmium levels in infants. Homogeneity of different lots of blank filter paper was examined. Mass measurements (weights) of filter paper punches were taken across three different lots of filter paper. Statistical analysis of the data was performed using one-way ANOVA, which indicated no significant difference in the means of all three lots, but high variances were noted. The three metals were examined in three different lots of filter papers purchased from the manufacturer. The lots had measurable amounts of cadmium and lead, but not mercury. Lead spike values were observed for roughly about 7% of the blank samples, indicating heterogeneous distribution of this metal. Statistical analysis of the data was also performed using a two-way ANOVA calculation with Tukey's pairwise comparisons. The results found that total mean metal loadings across the three lots were different. The concentration of the metals can be different from each other and the concentration of any one metal can differ across lots. Stability at different concentrations of the heavy metals in blood spotted onto filter paper with time and storage conditions was examined. Results indicate acceptable performance for at least 8.5 months for lead (near CDC's concern level) and for mercury (near NRC's concern level). The filter paper and blood spots were analyzed for metals using an acid extraction, followed by analysis using an inductively coupled plasma mass spectrometer (ICP-MS). Blood spot cards were studied from four

  13. Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

    Science.gov (United States)

    Chang, Ruey-Kang R; Lan, Yueh-Tze; Silka, Michael J; Morrow, Hallie; Kwong, Alan; Smith-Lang, Janna; Wallerstein, Robert; Lin, Henry J

    2014-03-01

    Autosomal recessive long QT syndrome (LQTS), or Jervell and Lange-Nielsen syndrome (JLNS), can be associated with sensorineural hearing loss. We aimed to explore newborn hearing screening combined with electrocardiograms (ECGs) for early JLNS detection. In California, we conducted statewide, prospective ECG screening of children ≤ 6 years of age with unilateral or bilateral, severe or profound, sensorineural or mixed hearing loss. Families were identified through newborn hearing screening and interviewed about medical and family histories. Twelve-lead ECGs were obtained. Those with positive histories or heart rate corrected QT (QTc) intervals ≥ 450 ms had repeat ECGs. DNA sequencing of 12 LQTS genes was performed for repeat QTc intervals ≥ 450 ms. We screened 707 subjects by ECGs (number screened/number of responses = 91%; number of responses/number of families who were mailed invitations = 54%). Of these, 73 had repeat ECGs, and 19 underwent gene testing. No subject had homozygous or compound heterozygous LQTS mutations, as in JLNS. However, 3 individuals (with QTc intervals of 472, 457, and 456 ms, respectively) were heterozygous for variants that cause truncation or missplicing: 2 in KCNQ1 (c.1343dupC or p.Glu449Argfs*14; c.1590+1G>A or p.Glu530sp) and 1 in SCN5A (c.5872C>T or p.Arg1958*). In contrast to reports of JLNS in up to 4% of children with sensorineural hearing loss, we found no examples of JLNS. Because the 3 variants identified were unrelated to hearing, they likely represent the prevalence of potential LQTS mutations in the general population. Further studies are needed to define consequences of such mutations and assess the overall prevalence. Published by Mosby, Inc.

  14. Collective screening tools for early identification of dyslexia

    Directory of Open Access Journals (Sweden)

    Olga Valéria Campana Dos Anjos Andrade

    2015-01-01

    Full Text Available Current response to intervention models (RTI favor a three-tier system. In general, Tier 1 consists of evidence-based, effective reading instruction in the classroom and universal screening of all students at the beginning of the grade level to identify children for early intervention. Nonresponders to Tier 1 receive small-group tutoring in Tier 2. Nonresponders to Tier 2 are given still more intensive, individual intervention in Tier 3. Limited time, personnel and financial resources derail RTI’s implementation in Brazilian schools because this approach involves procedures that require extra time and extra personnel in all three tiers, including screening tools which normally consist of tasks administered individually. We explored the accuracy of collectively and easily administered screening tools for the early identification of second graders at risk for dyslexia in a two-stage screening model. A first-stage universal screening based on collectively administered curriculum-based measurements was used in 45 seven years old early Portuguese readers from 4 second-grade classrooms at the beginning of the school year and identified an at-risk group of 13 academic low-achievers. Collectively administered tasks based on phonological judgments by matching figures and figures to spoken words (Alternative Tools for Educators-ATE and a comprehensive cognitive-linguistic battery of collective and individual assessments were both administered to all children and constituted the second-stage screening. Low-achievement on ATE tasks and on collectively administered writing tasks (scores at the 25th percentile showed good sensitivity (true positives and specificity (true negatives to poor literacy status defined as scores ≤ 1 SD below the mean on literacy abilities at the end of fifth grade. These results provide implications for the use of a collectively administered screening tool for the early identification of children at risk for dyslexia in a

  15. Collective screening tools for early identification of dyslexia

    Science.gov (United States)

    Andrade, Olga V. C. A.; Andrade, Paulo E.; Capellini, Simone A.

    2015-01-01

    Current response to intervention models (RTIs) favor a three-tier system. In general, Tier 1 consists of evidence-based, effective reading instruction in the classroom and universal screening of all students at the beginning of the grade level to identify children for early intervention. Non-responders to Tier 1 receive small-group tutoring in Tier 2. Non-responders to Tier 2 are given still more intensive, individual intervention in Tier 3. Limited time, personnel and financial resources derail RTI’s implementation in Brazilian schools because this approach involves procedures that require extra time and extra personnel in all three tiers, including screening tools which normally consist of tasks administered individually. We explored the accuracy of collectively and easily administered screening tools for the early identification of second graders at risk for dyslexia in a two-stage screening model. A first-stage universal screening based on collectively administered curriculum-based measurements was used in 45 7 years old early Portuguese readers from 4 second-grade classrooms at the beginning of the school year and identified an at-risk group of 13 academic low-achievers. Collectively administered tasks based on phonological judgments by matching figures and figures to spoken words [alternative tools for educators (ATE)] and a comprehensive cognitive-linguistic battery of collective and individual assessments were both administered to all children and constituted the second-stage screening. Low-achievement on ATE tasks and on collectively administered writing tasks (scores at the 25th percentile) showed good sensitivity (true positives) and specificity (true negatives) to poor literacy status defined as scores ≤1 SD below the mean on literacy abilities at the end of fifth grade. These results provide implications for the use of a collectively administered screening tool for the early identification of children at risk for dyslexia in a classroom setting

  16. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

    OpenAIRE

    Catanzano, Francesca; Ombrone, Daniela; Di Stefano, Cristina; Rossi, Anna; Nosari, Norberto; Scolamiero, Emanuela; Tandurella, Igor; Frisso, Giulia; Parenti, Giancarlo; Ruoppolo, Margherita; Andria, Generoso; Salvatore, Francesco

    2010-01-01

    A pilot expanded newborn screening programme to detect inherited metabolic disorders by means of liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) began in the Campania region, southern Italy, in 2007. By October 2009, >8,800 dried blood samples on filter paper from 11 hospitals had been screened. Within this screening programme, we identified a case of mitochondrial acetoacetyl-coenzyme A (CoA) thiolase deficiency [β-ketothiolase (β-KT) deficiency] by analysing the acylc...

  17. T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges

    Directory of Open Access Journals (Sweden)

    Marco Chiarini

    2013-05-01

    Full Text Available Since its introduction as a public health programme in the United States in the early 1960s, newborn blood screening (NBS has evolved from the detection of phenylalanine levels on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in infants with severe combined immunodeficiency. This latter use of NBS has required the development of an assay for T-cell lymphopenia based on the quantification of T-cell receptor excision circles (TRECs that could be performed on dried blood spots routinely collected from newborn infants. The TREC-based NBS was developed six years ago, and there have already been 7 successful pilot studies since then. Similarly, efforts are now being made to establish a screen for B-cell defects, in particular agammaglobulinaemia, taking advantage of the introduction of the method for the quantification of K-deleting recombination excision circles (KRECs. A further achievement of NBS could be the simultaneous recognition of T- and B-cell defects using the combined quantification of TRECs and KRECs from Guthrie card blood spots. This approach may help the early identification of infants with T- and B-cell deficiencies so that they can then be referred to specialised paediatric centres, where a precise diagnosis of severe combined immunodeficiency and agammaglobulinaemia can be performed, and where then they can immediately receive specific therapy. Simultaneous TREC and KREC quantification should also allow classification of patients into subgroups and help identify children with less serious primary immunodeficiencies. This would help avoid the opportunistic infections and frequent hospitalisations that result from a late or lack of diagnosis.

  18. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

    Science.gov (United States)

    Weisfeld-Adams, James D; Morrissey, Mark A; Kirmse, Brian M; Yu, Chunli; Wasserstein, Melissa P; Salveson, Bobbie R; McGuire, Peter J; Cohen-Pfeffer, Jessica L; Sunny, Sherlykutty; Caggana, Michele; Diaz, George A

    2010-01-01

    Introduction Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B12 metabolism caused by mutations in MMACHC. CblC typically presents in the neonatal period with neurological deterioration, failure to thrive, cytopenias, and multisystem pathology including renal and hepatic dysfunction. Rarely, affected individuals present in adulthood with gait ataxia and cognitive decline. Treatment with hydroxycobalamin may ameliorate the clinical features of early-onset disease and prevent clinical late-onset disease. Propionic acidemia (PA), methylmalonic acidemia (MMA), and various disorders of cobalamin metabolism are characterized by elevated propionylcarnitine (C3) on Newborn Screening (NBS). Distinctions can be made between these disorders with secondary analyte testing. Elevated methionine is already routinely used as a NBS marker for cystathionine ß-synthase deficiency. We propose that low methionine may be useful as a secondary analyte for specific detection of cbl disorders among a larger pool of infants with elevated C3 on NBS. Methods Retrospective analysis of dried blood spot (DBS) data in patients with molecularly confirmed cblC disease. Results 9 out of 10 patients with confirmed cblC born in New York between 2005 and 2008 had methionine below 13.4 μmol/L on NBS. Elevated C3, elevated C3:C2 ratio, and low methionine were incorporated into a simple screening algorithm that can be used to improve the specificity of newborn screening programs and provide a specific and novel method of distinguishing cblC from other disorders of propionate metabolism prior to recall for confirmatory testing. Conclusions It is anticipated that this algorithm will aid in early and specific detection of cobalamin C, D, and F diseases, with no additional expense to NBS laboratories screening for organic acidemias and classical homocystinuria. PMID:19836982

  19. Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.

    Science.gov (United States)

    Bombard, Yvonne; Miller, Fiona A; Hayeems, Robin Z; Wilson, Brenda J; Carroll, June C; Paynter, Martha; Little, Julian; Allanson, Judith; Bytautas, Jessica P; Chakraborty, Pranesh

    2012-05-01

    Newborn screening (NBS) programs aim to identify affected infants before the onset of treatable disorders. Historically, benefits to the family and society were considered secondary to this clinical benefit; yet, recent discourse defending expanded NBS has argued that screening can in part be justified by secondary benefits, such as learning reproductive risk information to support family planning ('reproductive benefit'). Despite increased attention to these secondary benefits of NBS, stakeholders' values remain unknown. We report a mixed methods study that included an examination of providers' views toward the pursuit of reproductive risk information through NBS, using sickle cell disorder carrier status as an example. We surveyed a stratified random sample of 1615 providers in Ontario, and interviewed 42 providers across 7 disciplines. A majority endorsed the identification of reproductive risks as a goal of NBS (74-77%). Providers' dominant rationale was that knowledge of carrier status is an important and inherent benefit of NBS as it allows people to make reproductive choices, which is consistent with the goals of disease prevention. However, some challenged its appropriateness, questioning its logic, timing and impact on disease prevention. Others were sensitive to intruding on individuals' choices or children's independent rights. While the dominant view is consistent with discourse defending expanded NBS, it deviates from the traditional screening principles that underpin most public health interventions. Broader discussion of the balance between benefits to screened individuals and those to families and societies, in the context of public health programs, is needed.

  20. [Neonatal deafness screening with the evoked otoacoustic emissions technique. Study of 320 newborns at the neonatal resuscitation service of the Amiens neonatal care unit].

    Science.gov (United States)

    Ayache, S; Kolski, C; Stramandinoli, E; Leke, A; Krim, G; Strunski, V

    2001-04-01

    Between January 1997 and June 1999, we screened for hearing loss using evoked otoacoustic emissions in 320 newborns in the neonate intensive care unit at the Amiens University Hospital. The purpose of this study was to search for correlations between deafness and one of the hearing loss risk factors identified by the Joint Committee on Infant Screening. Three risk factors were found to be significant: craniofacial abnormalities, low birth weight (less than 1500 g) and a familial history of hearing loss. Unfortunately a large proportion of the infants were lost to follow-up. Evoked otoacoustic emission provide an excellent screening technique for hearing loss in newborns. Such screening implies however the creation of networks to assure patient follow-up.

  1. Family, Community, and Health System Considerations for Reducing the Burden of Pediatric Sickle Cell Disease in Uganda Through Newborn Screening.

    Science.gov (United States)

    Green, Nancy S; Mathur, Sanyukta; Kiguli, Sarah; Makani, Julie; Fashakin, Victoria; LaRussa, Philip; Lyimo, Magdalena; Abrams, Elaine J; Mulumba, Lukia; Mupere, Ezekiel

    2016-01-01

    Sickle cell disease (SCD) is associated with high mortality for children under 5 years of age in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD treatment are under development to reduce disease burden in Uganda and elsewhere in the region. Based on an international stakeholder meeting and a family-directed conference on SCD in Kampala in 2015, and interviews with parents, multinational experts, and other key informants, we describe health care, community, and family perspectives in support of these initiatives. Key stakeholder meetings, discussions, and interviews were held to understand perspectives of public health and multinational leadership, patients and families, as well as national progress, resource needs, medical and social barriers to program success, and resources leveraged from HIV/AIDS. Partnering with program leadership, professionals, patients and families, multinational stakeholders, and leveraging resources from existing programs are needed for building successful programs in Uganda and elsewhere in sub-Saharan Africa.

  2. Family, Community, and Health System Considerations for Reducing the Burden of Pediatric Sickle Cell Disease in Uganda Through Newborn Screening

    Directory of Open Access Journals (Sweden)

    Nancy S. Green MD

    2016-04-01

    Full Text Available Sickle cell disease (SCD is associated with high mortality for children under 5 years of age in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD treatment are under development to reduce disease burden in Uganda and elsewhere in the region. Based on an international stakeholder meeting and a family-directed conference on SCD in Kampala in 2015, and interviews with parents, multinational experts, and other key informants, we describe health care, community, and family perspectives in support of these initiatives. Key stakeholder meetings, discussions, and interviews were held to understand perspectives of public health and multinational leadership, patients and families, as well as national progress, resource needs, medical and social barriers to program success, and resources leveraged from HIV/AIDS. Partnering with program leadership, professionals, patients and families, multinational stakeholders, and leveraging resources from existing programs are needed for building successful programs in Uganda and elsewhere in sub-Saharan Africa.

  3. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study

    NARCIS (Netherlands)

    Touw, Catharina M. L.; Smit, G. Peter A.; de Vries, Maaike; de Klerk, Johannis B. C.; Bosch, Annet M.; Visser, Gepke; Mulder, Margot F.; Rubio-Gozalbo, M. Estela; Elvers, Bert; Niezen-Koning, Klary E.; Wanders, Ronald J. A.; Waterham, Hans R.; Reijngoud, Dirk-Jan; Derks, Terry G. J.

    2012-01-01

    Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertaine

  4. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: Data from a cohort study

    NARCIS (Netherlands)

    C.M.L. Touw (Catharina M L); G.P. Smit; M. de Vries (Maaike); J.B.C. de Klerk (Johannes); A.M. Bosch (Annet); G. Visser (G.); M.F. Mulder; M.E. Rubio-Gozalbo (Estela); L.H. Elvers; K.E. Niezen-Koning; R.J.A. Wanders (Ronald); H.R. Waterham; D.J. Reijngoud; T.G.J. Derks (Terry G J)

    2012-01-01

    textabstractBackground. Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinicall

  5. Universal Newborn Hearing Screening and Early Identification of Deafness: Parents' Responses to Knowing Early and Their Expectations of Child Communication Development

    Science.gov (United States)

    Young, Alys; Tattersall, Helen

    2007-01-01

    This article presents results from an interview study of 45 parents/caregivers (representing 27 families) whose infants were correctly identified as deaf during the first phase of the implementation of the national universal Newborn Hearing Screening Programme in England. Average age of children when parents were interviewed was 25 weeks. Two…

  6. Second-tier test for quantification of underivatized amino acids in dry blood spot for metabolic diseases in newborn screening.

    Science.gov (United States)

    Wang, Chunyan; Zhu, Hongbin; Zhang, Wenyan; Song, Fengrui; Liu, Zhiqiang; Liu, Shuying

    2013-02-01

    The quantitative analysis of amino acids (AAs) in single dry blood spot (DBS) samples is an important issue for metabolic diseases as a second-tier test in newborn screening. An analytical method for quantifying underivatized AAs in DBS was developed by using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The sample preparation in this method is simple and ion-pairing agent is not used in the mobile phase that could avoid ion suppression, which happens in mass spectrometry and avoids damage to the column. Through chromatographic separation, some isomeric compounds could be identified and quantified, which cannot be solved through only appropriate multiple reactions monitoring transitions by MS/MS. The concentrations of the different AAs were determined using non-deuterated internal standard. All calibration curves showed excellent linearity within test ranges. For most of the amino acids the accuracy of extraction recovery was between 85.3 and 115 %, and the precision of relative standard deviation was <7.0 %. The 35 AAs could be identified in DBS specimens by the developed LC-MS/MS method in 17-19 min, and eventually 24 AAs in DBS were quantified. The results of the present study prove that this method as a second-tier test in newborn screening for metabolic diseases could be performed by the quantification of free AAs in DBS using the LC-MS/MS method. The assay has advantages of high sensitive, specific, and inexpensive merits because non-deuterated internal standard and acetic acid instead of ion-pairing agent in mobile phase are used in this protocol.

  7. [Universal cytomegalovirus infection screening in premature newborns less than 1500 g].

    Science.gov (United States)

    Botet, F; Figueras Aloy, J; Álvarez, E; de Alba, C; Dorronsolo, I; Echaniz Urcelay, I; Rite, S; Moreno, J; Fernández Lorenzo, J R; Herranz Carrillo, G; Salguero, E; Sánchez Luna, M

    2014-10-01

    Cytomegalovirus (CMV) infection is endemic, and children who attend day care are the most important source of infection. To establish recommendations based on the medical evidence on the vertical transmission of cytomegalovirus in preterm infants weighing less than 1500g at birth. Infection in pregnant women may be primary or secondary. Although there is fetal infection, 85% of newborn infants are asymptomatic. Symptoms of infection include low birth weight, hepatosplenomegaly, thrombocytopenia, microcephaly and neurological disorders. The prognosis of symptomatic children is very poor, with high mortality and neurological disorders. The virus can be reactivated during breast feeding, and early infection is possible through breast milk, probably with little impact in term infants, although the long-term neurological outcome worsens in preterm infants. The diagnostic method of choice is the identification of CMV in urine; the determination in the first two weeks of life suggests congenital infection; later it can be acquired at birth or through breast milk or contaminated blood transfusion. Determine viral DNA at 4-6 weeks of life by protease chain reaction. If it is positive, monitoring of samples from the first days of life and breast milk are mandatory. This should allow the newborn to be classified into three states: "Without CMV infection", "Congenital CMV infection", "Acquired CMV infection". Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  8. Newborn screening for pompe disease? A qualitative study exploring professional views

    NARCIS (Netherlands)

    C.G. El (Carla); T. Rigter (Tessel); A.J.J. Reuser (Arnold); A.T. van der Ploeg (Ans); S.S. Weinreich (Stephanie S.); M.C. Cornel (Martina)

    2014-01-01

    textabstractBackground: Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder

  9. Newborn hearing screening by transient evoked otoacoustic emissions: analysis of response as a function of risk factors.

    Science.gov (United States)

    De Capua, B; De Felice, C; Costantini, D; Bagnoli, F; Passali, D

    2003-02-01

    Hearing loss can be considered as the most common birth defect. Early detection of hearing loss by screening at, or shortly after, birth and appropriate intervention are critical to speech, language and cognitive development. In the present study, the characteristics of Transient Evoked Otoacoustic Emissions have been evaluated as a function of known pre- and perinatal risk factors for hearing loss. All newborns were screened for hearing loss using a physiologic test of hearing function, the Transient Evoked Otoacoustic Emissions. A total of 532 consecutive newborn infants received binaural Transient Evoked Otoacoustic Emission testing (262 males, 270 females; mean gestational age 39.2 +/- 2.1 weeks, range 26-43; birth weight: 3,240 +/- 550 g, range 910-4,780). The population examined comprised 448 control infants and 84 high-risk for hearing loss infants (Joint Committee on Infant Hearing 1994 criteria). All Transient Evoked Otoacoustic Emission recordings were performed at comparable postconceptional ages. Audiological screening by Transient Evoked Otoacoustic Emission recording showed an overall 100% sensitivity, 99.02% specificity, with negative and positive predictive values of 100% and 62.5%, respectively. As compared to controls, high-risk infants showed: 1. increased rates of Fail-1 (Transient Evoked Otoacoustic Emissions absent at first examination, 21.4% vs 9.8%, p = 0.004), Fail-2 (Transient Evoked Otoacoustic Emissions absent on retesting: 8.64% vs 1.37%, p = 0.0014), false positives (Transient Evoked Otoacoustic Emissions absent/V wave present: 3.7% vs 0.46%, p = 0.029) and true positives (Transient Evoked Otoacoustic Emissions absent, V wave absent: 2.47% or 24.5 per 1,000 live births vs 0.22% or 2.2 per 1,000 live births, p = 0.013); 2. significantly reduced Transient Evoked Otoacoustic Emission intensity in the 0.7-1 kHz (right side) and 1-2 kHz (left side) frequency ranges. Multivariate logistic regression analysis showed a significant positive

  10. Screening of hearing impairment in the newborn using the auditory response cradle.

    Science.gov (United States)

    Tucker, S M; Bhattacharya, J

    1992-01-01

    The Auditory Response Cradle (ARC) is a fully automated microprocessor controlled machine that was designed for the hearing screening of full term neonates. In order to evaluate the ARC, 6000 babies were screened at a district maternity hospital over a period of three years. Every infant subsequently entered a three year follow up programme. One hundred and two babies (1.7%) failed the ARC screen (that is, they failed two ARC tests) and 20 of these were found to have some hearing impairment: in 10 it was severe (80-90 dBHL), in seven moderate (45-60 dBHL), and in three it was mild to moderate (less than 45 dBHL). In addition, of the 20 babies who failed a first test and were discharged before a second could be performed, two were confirmed to have a severe hearing loss; 79 infants failing the screen were cleared on further testing, giving the ARC a false positive rate of 1.3%. On following up all 6000 infants for three years, seven children who passed the neonatal screen were subsequently found to have a hearing loss. For two babies the aetiology was unknown but for five the hearing impairment was either due to a hereditary progressive loss or definite postnatal factors. Progressive and acquired hearing losses cannot be detected at a neonatal screen and this emphasises the need for follow up screens at other stages in the child's life. In this long term study the ARC has been found to have a high detection rate for severe hearing loss and confirms the practical possibility of using a behavioural technique for the universal screening of hearing in neonates. Images Figure 1 Figure 2 PMID:1519957

  11. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.

    Science.gov (United States)

    Stuhrman, Grace; Perez Juanazo, Stefanie J; Crivelly, Kea; Smith, Jennifer; Andersson, Hans; Morava, Eva

    2017-01-12

    Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay. Congenital Disorders of Glycosylation screening for phosphoglucomutase-1 deficiency was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.

  12. Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID and Other Severe T-Cell Lymphopenias

    Directory of Open Access Journals (Sweden)

    Stephan Borte

    2015-12-01

    Full Text Available Primary immunodeficiencies (PID are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. More than 240 PID disease entities have been defined so far, accounting for a broad spectrum of clinical symptoms and severity. Severe PID are increasingly becoming appreciated as a relevant health problem, and diagnostic procedures and screening profiles to allow earliest possible diagnosis on a population scale have already been developed in the USA and few European countries. The most severe PID are characterized by significant mortality in the first years of life, as well as serious morbidity with irreversible organ damage. This applies in particular to PID that are defined by the absence or functional anergy of T-lymphocytes (severe combined immunodeficiency; SCID or B-lymphocytes (e.g., X-linked agammaglobulinemia; XLA. A strategy to improve the outcome of severe PID by prompt diagnosis and immediate adequate treatment is screening newborns for the presence of T and B cells.

  13. A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening.

    Science.gov (United States)

    Wang, Chunyan; Zhang, Wenyan; Song, Fengrui; Liu, Zhiqiang; Liu, Shuying

    2012-05-01

    The analysis by electrospray-ionization tandem mass spectrometry of amino acids with butyl esterification and isotopically labeled internal standard is routine in newborn screening laboratories worldwide. In the present study, we established a direct analysis method of higher accuracy that uses a non-deuterated internal standard. The automatic sampler and the pump of an LC apparatus were used to inject sample and mobile phase to MS, but no LC column was needed. The dry blood spot (DBS) material was prepared at levels of low, medium and high concentration; the running time was 1 min. In parallel to the new procedure, we applied the established method to analyze nine amino acids on DBS of healthy newborns and phenylketonuria newborns. The newly proposed method of product ion confirmation scan along with multiple reaction monitoring resulted in a very accurate identification of each amino acid. Our innovative protocol had high sensitivity and specificity in the analysis of cases of suspected metabolic diseases.

  14. Newborn hearing screening outcomes during the first decade of the program in a reference hospital from Turkey.

    Science.gov (United States)

    Kemaloğlu, Yusuf Kemal; Gökdoğan, Çağıl; Gündüz, Bülent; Önal, Eray Esra; Türkyılmaz, Canan; Atalay, Yıldız

    2016-05-01

    In this study, the authors report the results of a three-stage newborn hearing screening (NHS) program for well babies at the Gazi University Hospital (GUH) in Ankara between 2003 and 2013. GUH-NHS was performed by automated transient evoked otoacoustic emission (a-TEOAE) at the first and second steps and by automated brainstem audiometry (a-ABR) at the third step. The data were analysed to assess not only rate of congenital permanent hearing loss (CPHL), but also the effectiveness of the program during the years. A total of 18,470 well babies were tested. The data showed that coverage ratio for the GUH-born babies was increased and more outside-born babies (OBB) were admitted by time (means 84.31 and 11.28 %, respectively). Mean CPHL was found to be 0.26 %. Mean referral rate was decreased to 0.81 % by a-ABR from 2.16 % by a-TEOAE. Mean of missed cases in any stage of GUH-NHS was 4.88 %. It was seen that neither CPHL nor referral rate, but only ratio of missed ones presented increase in parallel to increment in OBB. This paper first presents that clinically acceptable screening procedures developed in GUH by time, and secondly higher rate of CPHL in Turkey than in the Western countries, and benefits of third stage screening by a-ABR because it prevented referral of 251 children (1.29 %) to the clinical tests. We think that this number is reasonably important regarding not only economical point of view, but also waiting lists in the audiology departments in a developing country, in which audiological service is still limited.

  15. A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

    Science.gov (United States)

    Somech, Raz; Etzioni, Amos

    2014-01-01

    Quantification of the T cell receptor excision circles (TRECs) has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID) or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of consanguinous marriages, such as Israel, and can be used for early diagnosis, enabling prompt therapeutic intervention that will save lives and improve the outcome of these patients. TREC measurement is also applicable in clinical settings where T cell immunity is involved, including any T cell immunodeficiencies, HIV infection, the aging process, autoimmune diseases, and immune reconstitution after bone marrow transplantation. TAKE-HOME MESSAGES Severe combined immunodeficiency, a life-threatening condition, can be detected by neonatal screening. The earlier the detection and the quicker the implementation of appropriate treatment, the greater the likelihood for improved outcome, even cure, for the affected children. TRECs and KRECs quantification are useful screening tests for severe T and B cell immunodeficiency and can be used also to evaluate every medical condition involving T and B cell immunity. PMID:24498508

  16. Triagem auditiva neonatal: das alterações auditivas à análise molecular Newborn hearing screening: from audiological alterations to molecular analyses

    Directory of Open Access Journals (Sweden)

    Jaqueline Medeiros de Mello

    2011-10-01

    Otoacoustic (EOA-T and cochlear palpebral reflex. For newborns, those who failed the hearing screening in one or both ears, were referred to a second evaluation. In the retest, while the EOA-T test result in not passing on one or both ears, the child was referred for evaluation and otorhinolaringology management. After completing the Auditory Evoked Potential test, the team of evaluators decided whether it should refer the child to investigate the mutation. When there was suspicion of hearing impairment we collected 3 mL of peripheral venous blood for the detection of mutation in the connexin 26 gene. RESULTS: we observed the presence of conductive hearing loss in 2 neonates (0.22% and sensorineural in 1 (0.11%. In children with sensorineural hearing loss we detected the presence of 35delG mutation. CONCLUSION: the audiological assessment in conjunction with molecular tests of the main GJB2 gene mutations in newborns with suspected hearing loss contributed to the rapid audiological diagnostic, seeking early intervention, educational and genetic counseling and prognosis of the child.

  17. Screening and collective modes in disordered graphene antidot lattices

    DEFF Research Database (Denmark)

    Yuan, Shengjun; Jin, Fengping; Roldan, Rafael

    2013-01-01

    , such as geometric and chemical disorder, are included in our calculations. We highlight the main differences of GALs with respect to single-layer graphene (SLG). Our results show that, in addition to the well-understood bulk plasmon in doped samples, interband plasmons appear in GALs. We further show......The excitation spectrum and the collective modes of graphene antidot lattices (GALs) are studied in the context of a π-band tight-binding model. The dynamical polarizability and dielectric function are calculated within the random-phase approximation. The effect of different kinds of disorder...... that the static screening properties of undoped and doped GALs quantitatively differ from SLG....

  18. A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

    Directory of Open Access Journals (Sweden)

    Raz Somech

    2014-01-01

    Full Text Available Quantification of the T cell receptor excision circles (TRECs has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of consanguinous marriages, such as Israel, and can be used for early diagnosis, enabling prompt therapeutic intervention that will save lives and improve the outcome of these patients. TREC measurement is also applicable in clinical settings where T cell immunity is involved, including any T cell immunodeficiencies, HIV infection, the aging process, autoimmune diseases, and immune reconstitution after bone marrow transplantation.

  19. Collection Cost Screening Mechanism in a Closedloop Supply Chain

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Recently, the product remanufacturing has been a hot topic in the field of operational management, and more manufacturers are beginning to recover the value in their end-of-life (EOL) products by remanufacturing.This paper focuses on the closed-loop supply chain where the retailer takes charge of not only retail, but also collection. There are two possible types of the retailer's collection cost as an assumption, i.e. high cost or low cost,and the retailer knows his type, whereas the manufacturer only has a prior probability over the two possible cost types. This paper deploys the contracts with which the manufacturer can screen the type of the retailer to improve her profit under incomplete information. As a result, the pooling contract can perfectly coordinate the decentralized system under incomplete information, but the manufacturer obtains the lower profit; nevertheless, with the separating contracts the manufacturer obtains the larger profits though the system profit is lower.

  20. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

    Science.gov (United States)

    Van Calcar, Sandra C; Baker, Mei W; Williams, Phillip; Jones, Susan A; Xiong, Blia; Thao, Mai Choua; Lee, Sheng; Yang, Mai Khou; Rice, Greg M; Rhead, William; Vockley, Jerry; Hoffman, Gary; Durkin, Maureen S

    2013-01-01

    Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD), also called 2-methylbutyryl CoA dehydrogenase deficiency (2-MBCDD), is a disorder of l-isoleucine metabolism of uncertain clinical significance. SBCADD is inadvertently detected on expanded newborn screening by elevated 2-methylbutyrylcarnitine (C5), which has the same mass to charge (m/s) on tandem mass spectrometry (MS/MS) as isovalerylcarnitine (C5), an analyte that is elevated in isovaleric acidemia (IVA), a disorder in leucine metabolism. SBCADD cases identified in the Hmong-American population have been found in association with the c.1165 A>G mutation in the ACADSB gene. The purposes of this study were to: (a) estimate the prevalence of SBCADD and carrier frequency of the c.1165 A>G mutation in the Hmong ethnic group; (b) determine whether the c.1165 A>G mutation is common to all Hmong newborns screening positive for SBCADD; and (c) evaluate C5 acylcarnitine cut-off values to detect and distinguish between SBCADD and IVA diagnoses. During the first 10years of expanded newborn screening using MS/MS in Wisconsin (2001-2011), 97 infants had elevated C5 values (≥0.44μmol/L), of whom five were Caucasian infants confirmed to have IVA. Of the remaining 92 confirmed SBCADD cases, 90 were of Hmong descent. Mutation analysis was completed on an anonymous, random sample of newborn screening cards (n=1139) from Hmong infants. Fifteen infants, including nine who had screened positive for SBCADD based on a C5 acylcarnitine concentration ≥0.44μmol/L, were homozygous for the c.1165 A>G mutation. This corresponds to a prevalence in this ethnic group of being homozygous for the mutation of 1.3% (95% confidence interval 0.8-2.2%) and of being heterozygous for the mutation of 21.8% (95% confidence interval 19.4-24.3%), which is consistent with the Hardy-Weinberg equilibrium. Detection of homozygous individuals who were not identified on newborn screening suggests that the C5 screening cut-off would need to

  1. Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

    Directory of Open Access Journals (Sweden)

    G. Scaturro

    2013-04-01

    Full Text Available Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the means to detect a large number of metabolic disorders in a single analytical run. Screening panels now include a large number of disorders that may not meet all the criteria that have been used as a reference for years. The rationale behind inclusion or exclusion of a respective disorder is difficult to understand in most cases and it may impose an ethical dilemma. The current organization is an important tool of secondary preventive medicine, essential for children’s healthcare, but the strong inhomogeneity of the regional models of screening applied today create in the Italian neonatal population macroscopic differences with regards to healthcare, which is in effect mainly diversified by the newborn’s place of birth, in possible violation of the universal criterion of the equality of all citizens. Carefully weighed arguments are urgently needed since patient organizations, opinion leaders and politicians are pressing to proceed with expansion of neonatal population screening.

  2. Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.

    Science.gov (United States)

    Han, Lianshu; Wu, Shengnan; Ye, Jun; Qiu, Wenjuan; Zhang, Huiwen; Gao, Xiaolan; Wang, Yu; Gong, Zhuwen; Jin, Jing; Gu, Xuefan

    2015-10-01

    Methyl malonic academia (MMA) is characterized by abnormal accumulation of methyl malonic acid in body fluids. Patients usually have a variety of clinical symptoms including recurrent vomiting, metabolic acidosis, developmental delay, seizure, or death. However, a few cases where the patients have no symptom are also reported. Here, we conducted clinical, biochemical, and molecular analysis of eight Chinese patients identified through newborn screening between 2003 and 2013. All the patients had significantly higher blood propionylcarnitine (C3) concentrations, ratio of propionylcarnitine/acetylcarnitine (C3/C2); and their urine methyl malonic acid and methylcitric acid (MCA) excretions were remarkably higher than normal at diagnosis and during follow-ups. In addition, five different known mutations were identified in seven of the eight patients in either MUT or MMACHC. All these mutations were expected to produce defective proteins that would result in decreased or even total loss of methyl malonyl-CoA mutase activity. However, normal outcomes were found in all patients in physical growth, intellectual performance and cerebral MRI analysis at diagnosis (range, 14-53 days) and during follow-ups (range, 1.8-10 years). Our study is the first report of Chinese MMA patients with increased secretion of methyl malonic acid and molecular defects in MUT or MMACHC yet remain asymptomatic. © 2015 Wiley Periodicals, Inc.

  3. [Objective hearing tests in pediatric audiology: AGERA recommendations for follow-up diagnosis in infants that fail newborn hearing screening tests].

    Science.gov (United States)

    Hoth, S; Janssen, T; Mühler, R; Walger, M; Wiesner, T

    2012-12-01

    This paper presents the recommendations compiled by the German Electric Response Audiometry Working Group (Arbeitsgruppe Elektrische Reaktions-Audiometrie, AGERA) and the Association of German Audiologists and Neuro-otologists (Arbeitsgemeinschaft Deutschsprachiger Audiologen und Neurootologen, ADANO) for infants that fail newborn hearing screening (NHS) tests. Outlined are procedures for follow-up diagnosis using objective hearing tests to rule out or confirm a therapeutically relevant auditory defect and assessment of the severity thereof.

  4. Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

    Directory of Open Access Journals (Sweden)

    Marcilene Rezende Silva

    2013-01-01

    Full Text Available OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. RESULTS: The following alpha chain variants were found: seven children with hemoglobin Hasharon [alpha2 47(CE5 Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13 Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2 Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5 Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. CONCLUSION: Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.

  5. Maternal and neonatal factors associated with mode of delivery under a universal newborn hearing screening programme in Lagos, Nigeria

    Directory of Open Access Journals (Sweden)

    Solanke Olumuyiwa A

    2009-09-01

    Full Text Available Abstract Background Emerging evidence from a recent pilot universal newborn hearing screening (UNHS programme suggests that the burden of obstetric complications associated with mode of delivery is not limited to maternal and perinatal mortality but may also include outcomes that undermine optimal early childhood development of the surviving newborns. However, the potential pathways for this association have not been reported particularly in the context of a resource-poor setting. This study therefore set out to establish the pattern of delivery and the associated neonatal outcomes under a UNHS programme. Methods A cross-sectional study in which all consenting mothers who delivered in an inner-city tertiary maternity hospital in Lagos, Nigeria from May 2005 to December 2007 were enrolled during the UNHS programme. Socio-demographic, obstetric and neonatal factors independently associated with vaginal, elective and emergency caesarean deliveries were determined using multinomial logistic regression analyses. Results Of the 4615 mothers enrolled, 2584 (56.0% deliveries were vaginal, 1590 (34.4% emergency caesarean and 441 (9.6% elective caesarean section. Maternal age, parity, social class and all obstetric factors including lack of antenatal care, maternal HIV and multiple gestations were associated with increased risk of emergency caesarean delivery compared with vaginal delivery. Only parity, lack of antenatal care and prolonged/obstructed labour were associated with increased risk of emergency compared with elective caesarean delivery. Infants delivered by vaginal method or by emergency caesarean section were more likely to be associated with the risk of sensorineural hearing loss but less likely to be associated with hyperbilirubinaemia compared with infants delivered by elective caesarean section. Emergency caesarean delivery was also associated with male gender, low five-minute Apgar scores and admission into special care baby unit compared

  6. Responsive parenting intervention after identification of hearing loss by Universal Newborn Hearing Screening: the concept of the Muenster Parental Programme.

    Science.gov (United States)

    Reichmuth, Karen; Embacher, Andrea Joe; Matulat, Peter; Am Zehnhoff-Dinnesen, Antoinette; Glanemann, Reinhild

    2013-12-01

    Parents of newborns with hearing loss (HL) identified by Universal Newborn Hearing Screening (UNHS) programmes wish for educational support soon after confirmation and for contact with other affected families. Besides pedaudiological care, a high level of family involvement and an early start of educational intervention are the best predictors for successful oral language development in children with HL. The implementation of UNHS has made it necessary to adapt existing intervention concepts for families of children with HL to the needs of preverbal infants. In particular, responsiveness has proven to be a crucial skill of intuitive parental behaviour in early communication between parents and their child. Since infants with HL are being fitted earlier with hearing devices, their chances of learning oral language naturally in daily communication with family members have noticeably improved. The Muenster Parental Programme (MPP) aims at empowering parents in communicating with their preverbal child with HL and in (re-)building confidence in their own parental resources. Additionally, it supplies specific information about auditory and language development and enables exchange with other affected parents shortly after the diagnosis. The MPP is a responsive parenting intervention specific to the needs of parents of infants with HL identified by UNHS or through other indices and testing within the first 18 months of life. It is based on the communication-oriented Natural Auditory Oral Approach and trains parental responsiveness to preverbal (3-18 months) infants with HL. The MPP has been developed for groups of 4-6 families and comprises six group sessions (without infants), two single training sessions with video feedback, and two individual counselling sessions. At the age of 24-30 months, an individual refresher training session is offered to the parents for adapting their responsiveness to the current verbal level of the child via dialogic book reading. The

  7. Maternal and neonatal factors associated with mode of delivery under a universal newborn hearing screening programme in Lagos, Nigeria

    Science.gov (United States)

    Olusanya, Bolajoko O; Solanke, Olumuyiwa A

    2009-01-01

    Background Emerging evidence from a recent pilot universal newborn hearing screening (UNHS) programme suggests that the burden of obstetric complications associated with mode of delivery is not limited to maternal and perinatal mortality but may also include outcomes that undermine optimal early childhood development of the surviving newborns. However, the potential pathways for this association have not been reported particularly in the context of a resource-poor setting. This study therefore set out to establish the pattern of delivery and the associated neonatal outcomes under a UNHS programme. Methods A cross-sectional study in which all consenting mothers who delivered in an inner-city tertiary maternity hospital in Lagos, Nigeria from May 2005 to December 2007 were enrolled during the UNHS programme. Socio-demographic, obstetric and neonatal factors independently associated with vaginal, elective and emergency caesarean deliveries were determined using multinomial logistic regression analyses. Results Of the 4615 mothers enrolled, 2584 (56.0%) deliveries were vaginal, 1590 (34.4%) emergency caesarean and 441 (9.6%) elective caesarean section. Maternal age, parity, social class and all obstetric factors including lack of antenatal care, maternal HIV and multiple gestations were associated with increased risk of emergency caesarean delivery compared with vaginal delivery. Only parity, lack of antenatal care and prolonged/obstructed labour were associated with increased risk of emergency compared with elective caesarean delivery. Infants delivered by vaginal method or by emergency caesarean section were more likely to be associated with the risk of sensorineural hearing loss but less likely to be associated with hyperbilirubinaemia compared with infants delivered by elective caesarean section. Emergency caesarean delivery was also associated with male gender, low five-minute Apgar scores and admission into special care baby unit compared with vaginal or elective

  8. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

    Science.gov (United States)

    Giugliani, Roberto

    2012-09-01

    The aim of newborn screening (NBS) programs is to detect a condition in a presymptomatic baby and provide management measures which could significantly improve the natural history of the disease. NBS programs for metabolic diseases were first introduced in North America and Europe and in the 1960s for phenylketonuria, expanded a few years later to include congenital hypothyroidism, and have been growing steadily in terms of number of conditions tested for and number of countries and births covered. Lysosomal storage diseases (LSDs) are a group of around 50 genetic conditions in which a defect in a lysosomal function occurs. LSDs are progressive conditions, being usually asymptomatic at birth, but with clinical features becoming apparent in childhood, with severe manifestations in most instances, high morbidity and shortened life span. Although individually rare, the prevalence of LSDs is significant when the group is considered as a whole (around 1:4,000-1:9,000 live births). Several management techniques, including bone marrow transplantation, enzyme replacement therapy, substrate inhibition therapy, pharmacological chaperones and many other approaches are transforming the LSDs into treatable conditions. However, lack of awareness and lack of access to tests cause a significant delay between onset of symptoms and diagnosis. Several lines of evidence showing that the earlier introduction of therapy may provide a better outcome, are bringing support to the idea of including LSDs in NBS programs. Due to advances in technology, high-throughput multiplex methods are now available for mass screening of several LSDs. Pilot projects were already developed in many countries for some LSDs, with interesting results. Although some NBS in Latin America has been carried out since the 1970s, it has so far been incorporated as a public health program in only a few countries in the region. It will probably take many years before NBS is implemented in most Latin American countries

  9. Delay in blood sampling for routine newborn screening is associated with increased risk of schizophrenia

    DEFF Research Database (Denmark)

    Nordentoft, Merete; Tidselbak Larsen, Janne; Pedersen, Carsten Bøcker

    2015-01-01

    admission, and parental education and income, the estimates were slightly different. Thus, blood collection at 0-4days was associated with an IRR of 1.27 (95% CI 0.94-1.71), 6-9days 1.31 (95% CI 0.94-1.84) and 10+days 3.52 (95% CI 1.50 to 8.24). DISCUSSION: After adjusting risk estimates for well-known risk...

  10. The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study

    Science.gov (United States)

    Pimperton, Hannah; Blythe, Hazel; Kreppner, Jana; Mahon, Merle; Peacock, Janet L; Stevenson, Jim; Terlektsi, Emmanouela; Worsfold, Sarah; Yuen, Ho Ming; Kennedy, Colin R

    2016-01-01

    Objective To determine whether the benefits of universal newborn hearing screening (UNHS) seen at age 8 years persist through the second decade. Design Prospective cohort study of a population sample of children with permanent childhood hearing impairment (PCHI) followed up for 17 years since birth in periods with (or without) UNHS. Setting Birth cohort of 100 000 in southern England. Participants 114 teenagers aged 13–19 years, 76 with PCHI and 38 with normal hearing. All had previously their reading assessed aged 6–10 years. Interventions Birth in periods with and without UNHS; confirmation of PCHI before and after age 9 months. Main outcome measure Reading comprehension ability. Regression modelling took account of severity of hearing loss, non-verbal ability, maternal education and main language. Results Confirmation of PCHI by age 9 months was associated with significantly higher mean z-scores for reading comprehension (adjusted mean difference 1.17, 95% CI 0.36 to 1.97) although birth during periods with UNHS was not (adjusted mean difference 0.15, 95% CI −0.75 to 1.06). The gap between the reading comprehension z-scores of teenagers with early compared with late confirmed PCHI had widened at an adjusted mean rate of 0.06 per year (95% CI −0.02 to 0.13) during the 9.2-year mean interval since the previous assessment. Conclusions The benefit to reading comprehension of confirmation of PCHI by age 9 months increases during the teenage years. This strengthens the case for UNHS programmes that lead to early confirmation of permanent hearing loss. Trial registration number ISRCTN03307358. PMID:25425604

  11. Air trapping on chest CT is associated with worse ventilation distribution in infants with cystic fibrosis diagnosed following newborn screening.

    Directory of Open Access Journals (Sweden)

    Graham L Hall

    Full Text Available BACKGROUND: In school-aged children with cystic fibrosis (CF structural lung damage assessed using chest CT is associated with abnormal ventilation distribution. The primary objective of this analysis was to determine the relationships between ventilation distribution outcomes and the presence and extent of structural damage as assessed by chest CT in infants and young children with CF. METHODS: Data of infants and young children with CF diagnosed following newborn screening consecutively reviewed between August 2005 and December 2009 were analysed. Ventilation distribution (lung clearance index and the first and second moment ratios [LCI, M(1/M(0 and M(2/M(0, respectively], chest CT and airway pathology from bronchoalveolar lavage were determined at diagnosis and then annually. The chest CT scans were evaluated for the presence or absence of bronchiectasis and air trapping. RESULTS: Matched lung function, chest CT and pathology outcomes were available in 49 infants (31 male with bronchiectasis and air trapping present in 13 (27% and 24 (49% infants, respectively. The presence of bronchiectasis or air trapping was associated with increased M(2/M(0 but not LCI or M(1/M(0. There was a weak, but statistically significant association between the extent of air trapping and all ventilation distribution outcomes. CONCLUSION: These findings suggest that in early CF lung disease there are weak associations between ventilation distribution and lung damage from chest CT. These finding are in contrast to those reported in older children. These findings suggest that assessments of LCI could not be used to replace a chest CT scan for the assessment of structural lung disease in the first two years of life. Further research in which both MBW and chest CT outcomes are obtained is required to assess the role of ventilation distribution in tracking the progression of lung damage in infants with CF.

  12. Combined screening report of hearing screening and deafness susceptibility genes screening for newborns%新生儿听力和聋病易感基因联合筛查报告

    Institute of Scientific and Technical Information of China (English)

    张章; 范联; 余凤慈; 刘莹; 李振安; 戴怡蘅; 吴雪丽; 罗伟东

    2014-01-01

    目的:研究新生儿听力和聋病易感基因联合筛查的临床意义。方法:选择1440例生后3~5 d 的新生儿,检测 GJB2、线粒体12S rRNA 及 SLC26A4等3个基因8个突变位点;同时进行听力筛查,复筛仍不通过者行听力学诊断。结果:GJB2基因235delC、299-300delAT、线粒体12S rRNA 1555A > G、 SLC26A4基因IVS7-2A > G、2168A > G 等位点致病突变的携带率分别为1.46%、0.35%、0.42%、0.42%及0.14%,3个基因突变的总体携带率为2.78%;听力筛查及诊断确诊听力损失10例(检出率为6.94‰),其中重度以上听力损失5例(检出率为3.47‰);32例聋病基因致病突变携带者通过了新生儿听力筛查。结论:听力和聋病易感基因联合筛查能及时发现常规通过听力筛查但具有耳聋高危因素和迟发性聋病遗传因素的新生儿,对早期干预、定期随访、减少聋病发生具有重要指导意义。%Objective To investigate the clinic signification of newborn hearing screening combined with deafness susceptibility genes screening. Methods 1 440 newborns(3 ~ 5 days after birth) were screened for 8 hot spot hearing loss associated mutations from GJB2, mt12S rRNA and SLC26A4. At the same time, all infants received hearing screening. Those who failed to pass two-step test were referred to further audiological assessment. Results The carrier rate of commonmutations was 1.46% for GJB2 c.235delC, 0.35% for GJB2 c.299-300delAT, 0.42% for mt12S rRNA c.1555A > G, 0.42% for SLC26A4 c.IVS7-2A > G and 0.14% for SLC26A4 c.2168A > G. The total carrier rate was 2.78%. 10 infants were diagnosed as hearing loss in the hearing screening and follow-up audiology assessment (6.94‰) and 5 were diagnosed as severe hearing loss (3.47‰). 32 hearing loss associated mutation carriers passed the hearing screening. Conclusions Genetic screening of newborn hearing screening can be helpful to find out neonates with

  13. Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

    Directory of Open Access Journals (Sweden)

    Danieli B Salinas

    Full Text Available Of the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance.We conducted a retrospective cohort study based on children screened from 2007 to 2011 and followed for two to six years. Newborns that screened positive were divided into three genotype groups: those with two CF-causing mutations (CF-C; those with one mutation of varying clinic consequence (VCC; and those with one mutation of unknown disease liability (Unknown. Sweat chloride tests, pancreatic sufficiency status, and Pseudomonas aeruginosa colonization were compared.Children with two CF-causing mutations had a classical CF phenotype, while 5% of VCC (4/78 and 11% of Unknown (27/244 met diagnostic criteria of CF. Children carrying Unknown mutations 2215insG with D836Y, and T1036N had early and classical CF phenotype, while others carrying 1525-42G>A, L320V, L967S, R170H, and 296+28A>G had a benign clinical presentation, suggesting that these are non-CF causing.While most infants with VCC and Unknown CFTR mutations do not meet diagnostic criteria for CF, a small proportion do. These findings highlight the range of genotypes and phenotypes in the first few years of life following CF newborn screening when CFTR sequencing is performed.

  14. Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.

    Science.gov (United States)

    Kumar, Arun Babu; Masi, Sophia; Ghomashchi, Farideh; Chennamaneni, Naveen Kumar; Ito, Makoto; Scott, C Ronald; Turecek, Frantisek; Gelb, Michael H; Spacil, Zdenek

    2015-11-01

    There is interest in newborn screening and diagnosis of lysosomal storage diseases because of the development of treatment options that improve clinical outcome. Assays of lysosomal enzymes with high analytical range (ratio of assay response from the enzymatic reaction divided by the assay response due to nonenzymatic processes) are desirable because they are predicted to lead to a lower rate of false positives in population screening and to more accurate diagnoses. We designed new tandem mass spectrometry (MS/MS) assays that give the largest analytical ranges reported to date for the use of dried blood spots (DBS) for detection of mucopolysaccharidoses type II (MPS-II), MPS-IVA, and MPS-VI. For comparison, we carried out fluorometric assays of 6 lysosomal enzymes using 4-methylumbelliferyl (4MU)-substrate conjugates. The MS/MS assays for MPS-II, -IVA, and -VI displayed analytical ranges that are 1-2 orders of magnitude higher than those for the corresponding fluorometric assays. The relatively small analytical ranges of the 4MU assays are due to the intrinsic fluorescence of the 4MU substrates, which cause high background in the assay response. These highly reproducible MS/MS assays for MPS-II, -IVA, and -VI can support multiplex newborn screening of these lysosomal storage diseases. MS/MS assays of lysosomal enzymes outperform 4MU fluorometric assays in terms of analytical range. Ongoing pilot studies will allow us to gauge the impact of the increased analytical range on newborn screening performance. © 2015 American Association for Clinical Chemistry.

  15. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

    Science.gov (United States)

    Kumamoto, Shingo; Katafuchi, Tatsuya; Nakamura, Kimitoshi; Endo, Fumio; Oda, Eri; Okuyama, Torayuki; Kroos, Marian A; Reuser, Arnold J J; Okumiya, Toshika

    2009-07-01

    To investigate the feasibility of newborn screening for glycogen storage disease type II (GSDII; Pompe disease or acid maltase deficiency) in the Japanese population, we assayed the acid alpha-glucosidase activity in dried blood spots from 715 Japanese newborns and 18 previously diagnosed patients using a fluorometric procedure. The enzyme activity of apparently healthy newborns showed a bimodal distribution. The median activity of the minor group (31 individuals, 4.3% of the samples) was 6.5 times lower than that of the major group. Four of the 715 control samples (0.56%) fell in the patient range. We then analyzed genomic DNA, extracted from the same blood spots, for the occurrence of two sequence variants, c.1726G>A and c.2065G>A, known to cause "pseudodeficiency". This analysis revealed that 27 of 28 individuals homozygous for c.[1726A; 2065A] belonged to the minor group. One c.[1726A; 2065A] homozygote had just slightly higher activity. Twelve of the 18 patients with GSDII either had one (9 cases) or two (3 cases) c.[1726A; 2065A] alleles. The frequency of this allele was double in the patient compared to the control group (0.42 vs 0.19) at the expense of a lower frequency of the c.[1726G; 2065G] and c.[1726G; 2065A] alleles (0.58 vs 0.71 and 0 vs 0.1). These findings illustrate that c.[1726A; 2065A] homozygosity among apparently healthy individuals (3.9 per 100) complicates newborn screening for GSDII in Japan, and further that one or more pathogenic mutations are associated with the c.[1726A; 2065A] allele.

  16. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders

    Science.gov (United States)

    Richter, Sylvia; Baráth, Ákos; Fingerhut, Ralph; Baumgartner, Matthias R.; Kölker, Stefan; Hoffmann, Georg F.

    2017-01-01

    Background and aims Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test). We also set out to validate the method using newborn and follow-up samples of patients with confirmed PA or MMACBL. Methods The assay was developed using liquid chromatography–tandem mass spectrometry and clinically validated with retrospective analysis of DBS samples from PA or MMACBL patients. Results Reliable determination of all three analytes in DBSs was achieved following simple and fast (<20 min) sample preparation without laborious derivatization or any additional pipetting steps. The method clearly distinguished the pathological and normal samples and differentiated between PA and MMACBL in all stored newborn specimens. Methylcitric acid was elevated in all PA samples; 3-hydroxypropionic acid was also high in most cases. Methylmalonic acid was increased in all MMACBL specimens; mostly together with methylcitric acid. Conclusions A liquid chromatography–tandem mass spectrometry assay allowing simultaneous determination of the biomarkers 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in DBSs has been developed. The assay can use the same specimen as in primary screening (second-tier test) which may reduce the need for repeated blood sampling. The presented preliminary findings suggest that this method can reliably differentiate patients with PA and MMACBL in newborn screening. The validated assay is being evaluated prospectively in a pilot

  17. Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.

    Science.gov (United States)

    Gramer, Gwendolyn; Haege, Gisela; Glahn, Esther M; Hoffmann, Georg F; Lindner, Martin; Burgard, Peter

    2014-03-01

    Newborn screening for inborn errors of metabolism is regarded as highly successful by health professionals. Little is known about parents' perspectives on child development and social impact on families. Parents of 187 patients with metabolic disorders detected by newborn screening rated child development, perceived burdens on child and family, and future expectations on a questionnaire with standardized answers. Parental ratings were compared with standardized psychometric test results. Regression analysis was performed to identify factors associated with extent of perceived burden. In 26.2% of patients, parents perceived delays in global development and/or specific developmental domains (physical, social, intellectual, language). Parents expected normal future development in 95.7%, and an independent adult life for their child in 94.6%. Comparison with psychometric test results showed that parents of children with cognitive impairments tended to overrate their child's abilities. Mild/medium burden posed on the family (child) by the metabolic disorder was stated by 56.1% (48.9%) of parents, severe/very severe burden by 19.3% (8.6%). One third of families reported financial burden due to the metabolic disorder. Dietary treatment and diagnoses with risk for metabolic decompensation despite treatment were associated with higher perceived burden for the family. Disorders rated as potentially very burdensome by experts were not rated accordingly by parents, demonstrating different perspectives of professionals and parents. Although newborn screening leads to favourable physical and cognitive outcome, living with a metabolic disorder may cause considerable stress on patients and families, emphasizing the need for comprehensive multidisciplinary care including psychological and social support.

  18. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

    Science.gov (United States)

    Saavedra-Matiz, Carlos A; Luzi, Paola; Nichols, Matthew; Orsini, Joseph J; Caggana, Michele; Wenger, David A

    2016-11-01

    Newborn screening (NBS) for Krabbe's disease (KD) has been instituted in several states, and New York State has had the longest experience. After an initial screening of dried blood spots, samples from individuals with galactocerebrosidase (GALC) values below a given cutoff level were subjected to additional testing, including sequencing of the GALC gene. This resulted in the identification of mutations that had previously been found in confirmed KD patients and of variants that had never previously been reported. Some individuals had variants considered to be polymorphisms, alone or on the same allele as another mutation. To help with counseling of families on the risk for a newborn to develop KD, expression studies were conducted with these variants identified by NBS. GALC activity was measured in COS1 cells for 140 constructs and compared with mutations that had previously been seen in confirmed cases of KD. When a polymorphism was present on the same allele as the variant, expressed activity was measured with and without the polymorphism. In some cases the presence of the polymorphism greatly lowered the measured GALC activity, possibly making it disease causing. Although it is not possible to predict conclusively whether a variant is severe and will result in infantile KD if two such variants are present or whether a variant is mild and will result in late-onset disease, some variants clearly are not disease causing. This is the largest expression study of GALC variants/mutations found in NBS and confirmed KD cases. This work will be helpful for counseling families of screen-positive newborns found to have low GALC activity. © 2016 Wiley Periodicals, Inc.

  19. Newborn Screening Tests

    Science.gov (United States)

    ... be treated with oral doses of thyroid hormone. Galactosemia Babies with galactosemia lack the enzyme that converts galactose (one of ... for the body's cells. For a baby with galactosemia, milk (including breast milk ) and other dairy products ...

  20. Newborn Screening Tests

    Science.gov (United States)

    ... body. Made in the bone marrow and the thymus gland, B- and T- lymphocytes are specialized white ... be treated to help prevent problems with that development. previous continue Should I Request Other Tests? If ...

  1. Newborn jaundice

    Science.gov (United States)

    ... of life for babies sent home from the hospital in 72 hours Alternative Names Jaundice of the newborn; Neonatal hyperbilirubinemia; Bili lights - jaundice; Infant - yellow skin; Newborn - yellow skin Patient Instructions Newborn jaundice - discharge Newborn jaundice - what to ask your doctor Images ...

  2. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry

    DEFF Research Database (Denmark)

    Matern, Dietrich; He, Miao; Berry, Susan A;

    2003-01-01

    developed athetoid cerebral palsy, and another had severe motor developmental delay with muscle atrophy. A sibling of the first patient is asymptomatic after prenatal diagnosis and early treatment. Family investigations in the second family revealed that the patient's mother was also affected...... but asymptomatic. METHODS: We report 8 additional patients identified by prospective newborn screening using tandem mass spectrometry. RESULTS: Molecular genetic analysis performed for 3 of these patients revealed that all are homozygous for an 1165A>G mutation that causes skipping of exon 10 of the SBCAD gene...

  3. 77 FR 41791 - Proposed Collection; Comment Request; Prostate, Lung, Colorectal and Ovarian Cancer Screening...

    Science.gov (United States)

    2012-07-16

    ..., Colorectal and Ovarian Cancer Screening Trial (PLCO) (NCI) SUMMARY: In compliance with the requirement of... Ovarian Cancer Screening Trial (PLCO) (NCI). Type of Information Collection Request: Revision (OMB : 0925... designed to determine if cancer screening for prostate, lung, colorectal, and ovarian cancer can...

  4. 76 FR 22108 - Proposed Collection; Comment Request; Prostate, Lung, Colorectal and Ovarian Cancer Screening...

    Science.gov (United States)

    2011-04-20

    ..., Colorectal and Ovarian Cancer Screening Trial (PLCO) (NCI) SUMMARY: In compliance with the requirement of... Ovarian Cancer Screening Trial (PLCO) (NCI). Type of Information Collection Request: Revision (OMB : 0925... to determine if screening for prostate, lung, colorectal and ovarian cancer can reduce mortality...

  5. Universal screening for hepatitis B among pregnant women led to 96% vaccination coverage among newborns of HBsAg positive mothers in Denmark

    DEFF Research Database (Denmark)

    Harder, Katja Majlund; Cowan, Susan; Eriksen, Mette Brandt

    2011-01-01

    to examine the effectiveness of universal HBV-screening of pregnant women and HBV-immunizations of their newborn, and to provide a prevalence-estimate for HBV in Denmark. On a opt out basis all women in Denmark attending antenatal care were tested for hepatitis B serology. Vaccination data of the newborns...... and households of HBsAg positive pregnant women were assembled. Among 140,376 HBsAg tests of pregnant women, 371 (0.26%) were positive. The prevalence among women of Danish origin was 0.012% and 2.74% among foreign born women, highest for women from Southeast Asia (14.5%). Genotype C was the most prevalent (37......%) and 13% had a HBVDNA ≥10(8) IU/ml. The prevalence estimate of chronic hepatitis B in Denmark was 0.2-0.3% in the general population. Among children born within the project period, 96% received vaccination at birth compared to 50% of siblings born prior to universal screening. During 3 years of passive...

  6. 新生儿听力筛查832例回顾性分析%Retrospectively analysis of hearing screening of 832 newborns

    Institute of Scientific and Technical Information of China (English)

    程洪源; 李静

    2015-01-01

    Objective To summarize neonatal hearing screening data to describe clinical experience of early detection of congenital deafness. Methods From March to December in 2012 832 neonates born in Hubei Zhongshan Hospital Yangluo School were chosen in study, and they underwent transient evoked otoacoustic emission ( TEOAE) screening-TEOAE rescreening- auditory brainstem response ( ABR) screening again. Wuhan Neonatal Screening Management required transfering the neonates with positive results in second screening to Wuhan Neonatal Screening Center for further examination. The screening results were analyzed. Results Of 832 cases, the pass rate at primary screening was 90. 50%, and that of normal full-term newborns and high-risk neonates was 91. 15% and 86. 67%, respectively. The difference was significant (χ2 =12. 734, P<0. 05). The pass rate of primary screening among neonates born by section was 90. 13%, and that of second screening was 91. 04%. Among spontaneously delivered neonates the pass rate of primary screening was 92. 16%, and that of second screening was 91. 67%. After adopting three-step hearing screening method, the transfer treatment rate of newborns was 0. 84%. Conclusion Neonatal hearing screening makes it possible to detect hearing defect early and carry out relevant interventions to promote the recovery of hearing and language function.%目的:总结新生儿听力筛查资料,探讨早期发现先天性耳聋患儿的临床体会。方法选择2012年3至12月在湖北省中山医院阳逻院区出生的832例新生儿为研究对象,采用瞬态诱发耳声发射( TEOAE)初筛-TEOAE复筛-听性脑干诱发电位( ABR)再筛的三步法开展新生儿听力筛查,复筛阳性者按武汉市新生儿疾病筛查管理要求转诊到武汉市新生儿疾病筛查中心做进一步检查,并对结果进行分析。结果在832例新生儿中,听力筛查初筛通过率为90.50%,其中正常足月新生儿和高危儿初筛通过率分别为91.15%和86

  7. GC-CI-MS-SIM方法诊断新生儿苯丙酮尿症%Newborn Screening of Phenylketonuria by GC-CI-MS-SIM

    Institute of Scientific and Technical Information of China (English)

    邓春晖; 胡耀铭; 胡克季; 张雅芬; 顾学范

    2001-01-01

    The application of MS in newborn screening is one of the most important branches of MS′s current clinical application.In this paper we first reported a new method of newborn screening for Phenylketonuria (PKU) by GC-CI-MS-SIM,which was relatively cheap,fast,sensitive and accurate.In this method Phenylalanine (Phe) and Tyrosine (Tyr) were extracted from dry blood spots with 0.1% mol/L HCl-methanol.The protein in the extraction was gotten rid of by centrifugor.Phe and Tyr were reacted with 3.0 mol/L HCl-butanol,then the products Phe and Tyr butyl esters were reacted with trifluoroacetic anhydride.The final derivations from Phe and Tyr,alanine,3-phenyl-N(trifluoroacetyl)-,butyl este and L-tyrosine,N(trifluoroacetyl)-,butyl ester,trifl were analyzed by GCCI-MS-SIM.The contents of the two amino acids in blood samples were determined by calculating the areas of their final derivations with exterior standard.Finally,the molar ratios of Phe to Tyr in blood sample were calculated as the basis of PKU diagnosis.Because chemical ionization and selective ion measurement were used in this method,the limits of detection for Phe and Tyr were low and the sensitivity was excellent.About 30 blood samples were analyzed by this method,and the results prove that this method could successfully discriminate between normal infants and PKU positive ones.The price of instrument GC-MS is cheaper than that of MS-MS.Therefore it was capable for large-scale screening in developing countries.

  8. Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

    Science.gov (United States)

    Ko, Dae-Hyun; Jun, Sun-Hee; Park, Kyoung Un; Song, Sang Hoon; Kim, Jin Q; Song, Junghan

    2011-04-01

    Galactosemia is one of the most important inherited metabolic disorders detected by newborn screening tests. Abnormal results during screening should be confirmed by enzyme activity assays. Recently, we developed a multiplex enzyme assay for galactosemia in erythrocytes using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). In this study, we proposed a second-tier multiplex enzyme assay for galactosemia that can be directly applied to dried blood spots (DBSs). Supernatants from two rehydrated-punched 3.2-mm DBSs were incubated with a reaction mixture containing [¹³C6]galactose, [¹³C2]galactose-1-phosphate, and UDP-glucose as substrates for three galactose-metabolizing enzymes. After a 4-hour incubation, the end products from the combined reaction mixture, [¹³C6]galactose-1-phosphate, UDP-[¹³C2]galactose, and UDP-galactose, were simultaneously measured using UPLC-MS/MS. Substrates, products, and internal standards from the mixture of the three enzyme reactions were clearly separated in the UPLC-MS/MS system, with an injection cycle time of 10 min. Intra- and inter-assay imprecisions of the UPLC-MS/MS were 8.4-14.8% and 13.2-15.7% CV, respectively. Enzyme activities in DBSs from 37 normal individuals and 10 patients with enzyme deficiencies were analyzed. DBSs from galactosemia patients showed consistently lower enzyme activities as compared to those of normal individuals. In conclusion, multiplex enzyme assays using UPLC-MS/MS can be successfully applied to DBS analysis. This method allows a fast and effective second-tier test for newborns showing abnormal screening results.

  9. Reference values for spot urinary iodine concentrations in iodine-sufficient newborns using a new pad collection method

    NARCIS (Netherlands)

    Dorey, C.M.; Zimmermann, M.B.

    2008-01-01

    Background: Iodine deficiency in infancy can impair neurocognitive development, but there are few available indicators of iodine intake during this critical period. In many countries, access to newborns in maternity clinics in the first few days after birth is high. If spot urine samples could be co

  10. Collection and Screening of Microalgae for Lipid Production

    Energy Technology Data Exchange (ETDEWEB)

    Cooksey, K. E.

    1987-05-01

    Themotolerant microalgae were selected from an existing culture collection and isolated from hot spring areas of Yellowstone National Park. Several of them grew at 35 degrees celsius, although only one grew at much better than 1 doubling per day.

  11. The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

    DEFF Research Database (Denmark)

    O'Reilly, Linda; Bross, Peter; Corydon, Thomas J;

    2004-01-01

    Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the beta-oxidation of medium-chain fatty acids. Mutations in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS/MS, ...

  12. 77 FR 42323 - Notice of Proposed Information Collection for Public Comment; Screening and Eviction for Drug...

    Science.gov (United States)

    2012-07-18

    ... lists the following information: Title of Proposal: Screening and Eviction for Drug Abuse and Other... URBAN DEVELOPMENT Notice of Proposed Information Collection for Public Comment; Screening and Eviction for Drug Abuse and Other Criminal Activity AGENCY: Office of the Assistant Secretary for Public...

  13. Newborn screening for sickling and other haemoglobin disorders using tandem mass spectrometry: A pilot study of methodology in laboratories in England.

    Science.gov (United States)

    Daniel, Yvonne A; Henthorn, Joan

    2016-12-01

    To determine (i) if electrospray mass spectrometry-mass spectrometry with the SpOtOn Diagnostics Ltd reagent kit for sickle cell screening could be integrated into the English newborn screening programme, under routine screening conditions, and provide mass spectrometry-mass spectrometry results which match existing methods, and (ii) if common action values could be set for all manufacturers in the study, for all assessed haemoglobins, to indicate which samples require further investigation. Anonymised residual blood spots were analysed using the SpOtOn reagent kit as per manufacturer's instructions, in parallel with existing techniques at four laboratories. Mass spectrometry-mass spectrometry instrumentation at Laboratories A and B was AB Sciex (Warrington, UK) AP4000, and at Laboratories C and D, Waters Micromass (Manchester, UK), Xevo TQMS and Premier, respectively. There were 23,898 results accepted from the four laboratories. Excellent specificity at 100% sensitivity was observed for haemoglobin S, haemoglobin C, haemoglobin E and haemoglobin O(Arab). A common action value was not possible for Hb C, but action values were set by manufacturer. The two haemoglobin D(Punjab) cases at Laboratory D were not detected using the common action value. Conversely, false-positive results with haemoglobin D(Punjab) were a problem at the remaining three laboratories. This multicentre study demonstrates that it is possible to implement mass spectrometry-mass spectrometry into an established screening programme while maintaining consistency with existing methods for haemoglobinopathy screening. However, one of the instruments investigated cannot be recommended for use with this application. © The Author(s) 2016.

  14. Avaliação econômica em saúde: triagem neonatal da galactosemia Newborn screening for galactosemia: a health economics evaluation

    Directory of Open Access Journals (Sweden)

    José Simon Camelo Junior

    2011-04-01

    Full Text Available Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise de custo-benefício, utilizando a relação benefício/custo (B/C, a taxa de juros de 9,25% ao ano para descapitalização dos resultados obtidos. Também se realiza uma análise de sensibilidade, em função da variação da taxa de juros entre 0 e 20% e do intervalo de 95% de confiança da incidência da galactosemia (1:7.494 a 1:59.953 recém-nascidos. A economia obtida com a melhora da saúde das crianças doentes identificadas precocemente é superior aos custos (B/C = 1,33, caracterizando como eficiente a política de adição do exame neonatal para galactosemia no Teste do Pezinho. Quanto menor a taxa de juros vigente na economia, mais eficiente é a política de triagem neonatal, não considerados os custos sociais intangíveis evitados.This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns. The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33, characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.

  15. Clinician and Patient Acceptability of Self-Collected Human Papillomavirus Testing for Cervical Cancer Screening.

    Science.gov (United States)

    Mao, Constance; Kulasingam, Shalini L; Whitham, Hilary K; Hawes, Stephen E; Lin, John; Kiviat, Nancy B

    2017-06-01

    To evaluate clinician and patient attitudes toward home self-collected human papillomavirus (HPV) testing for cervical cancer screening. Women aged 21-65 years were recruited for a randomized trial comparing home self-collected HPV testing to standard clinician-collected Pap screening. Participants were surveyed about their attitudes toward self-collected HPV testing. Clinicians performing cervical cancer screening in University of Washington medical clinics were also surveyed to determine their acceptability of self-collected HPV testing. Over half (59.1%) of the 1,769 women surveyed preferred self-collected HPV testing to clinician-collected tests. Reasons most often cited were convenience or time saving (82.7%), and avoiding embarrassment or discomfort associated with pelvic exam (38.1%). Women who did not prefer self-collected HPV testing reported greater faith in clinician-collected samples (56.7%) or a desire for a clinic visit to address other issues (42.4%). One hundred eighteen (49.6%) of 238 physicians and midlevel providers surveyed completed the survey. The majority (78.0%) reported that they would recommend a self-collected HPV test if the test had qualities such as high sensitivity and cost effectiveness. Provider concerns mirrored those of patients, namely ensuring adequate sample collection and the opportunity to address other health concerns. Patients and clinicians are supportive of self-collected HPV testing. However, concerns regarding adequacy of samples that are self collected and the desire to see a provider in a clinic setting for other health needs highlight areas that need to be addressed if self collection proves to be a viable option for cervical cancer screening.

  16. 76 FR 45645 - 10-Day Notice of Proposed Information Collection: Technology Security/Clearance Plans, Screening...

    Science.gov (United States)

    2011-07-29

    ...The Department of State has submitted the following information collection request to the Office of Management and Budget (OMB) for approval in accordance with the Paperwork Reduction Act of 1995. Title of Information Collection: Technology Security/ Clearance Plans, Screening Records, and Non-Disclosure Agreements Pursuant to 22 CFR 126.18. OMB Control Number: 1405-XXXX.......

  17. 76 FR 30177 - Proposed collection; comment request; Web-Based Skills Training for SBIRT (Screening Brief...

    Science.gov (United States)

    2011-05-24

    ... HUMAN SERVICES National Institutes of Health Proposed collection; comment request; Web-Based Skills... of Management and Budget (OMB) for review and approval. Proposed Collection Title: Web-based Skills..., providing convenient access to screening and brief intervention skills training and resources for busy...

  18. Screening a core collection of citrus genetic resources for resistance to Fusarium solani (Mart) Sacc

    Science.gov (United States)

    A causal agent for Dry root rot (DRR) of citrus has not been definitively identified, but the organism most consistently associated with DRR is Fusarium solani (Mart.) Sacc. To efficiently screen a citrus germplasm collection for resistance to F. solani, a core subset of the collection was evaluated...

  19. Deficiência auditiva na toxoplasmose congênita detectada pela triagem neonatal Hearing loss in congenital toxoplasmosis detected by newborn screening

    Directory of Open Access Journals (Sweden)

    Gláucia Manzan Queiroz de Andrade

    2008-02-01

    Full Text Available A toxoplasmose congênita pode causar déficit neurossensorial em até 20% dos casos e o tratamento no primeiro ano de vida melhora o prognóstico. No Brasil, desconhece-se o impacto da infecção na hipoacusia. OBJETIVO: Avaliar a audição de crianças com toxoplasmose congênita identificadas pela triagem neonatal. MATERIAL E MÉTODO: Estudo prospectivo de crianças com toxoplasmose congênita identificadas pela triagem neonatal (IgM anti-T. gondii em Belo Horizonte, durante 2003/2004. Realizada sorologia confirmatória (mãe/filho e consideradas positivas as crianças apresentando IgM e/ou IgA nos primeiros seis meses ou IgG aos 12 meses de vida. Avaliações auditivas ao diagnóstico e após 12 meses incluíram Audiometria Comportamental, Emissões Otoacústicas, Imitanciometria, Audiometria de Tronco Encefálico. RESULTADOS: Dentre 30.808 crianças triadas (97% dos nascidos vivos, 20 apresentavam toxoplasmose congênita, 15 (75% com infecção subclínica. Dezenove crianças realizaram avaliação auditiva. Quatro apresentaram déficit neurossensorial (21,1%. Uma criança apresentou outros fatores de risco para hipoacusia; nas outras três, a toxoplasmose foi o único fator observado. Duas crianças, tratadas adequadamente com antiparasitários, apresentaram déficit auditivo, em desacordo com a literatura. CONCLUSÃO: Os achados sugerem que a toxoplasmose congênita, prevalente no Brasil, é um fator de risco para hipoacusia e o impacto dessa infecção nas perdas auditivas deve ser estudado.Congenital toxoplasmosis may cause sensorineural deficit in up to 20% of the patients and proper treatment in the first year improves prognosis. In Brazil, this infection’s impact on hearing impairment is unknown. AIM: To evaluate hearing of newborns with congenital toxoplasmosis identified by the newborn screening service. METHOD: This prospective study analyzed children with congenital toxoplasmosis identified by newborn screening (IgM anti

  20. Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

    Directory of Open Access Journals (Sweden)

    Simon E. Olpin

    2017-02-01

    Full Text Available Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pathogenic mutations and variants of uncertain significance. VLCADD is included in many newborn screening programs but these suffer from high false positive rates, primarily due to positive screens in heterozygotes. Separating these and newborns with two low-risk “mild” variants from clinically at risk patients can be problematic, as clinical and biochemical markers are often unreliable, particularly in stable neonates. We have measured fibroblast fatty acid oxidation flux using [9,10-H3]myristic acid and [9,10-H3]oleic acid from 69 clinically presenting VLCADD patients including myopathic and infantile phenotypes and 13 positive newborn screened patients. We also measured fibroblast VLCADD enzyme activity by UV-HPLC detection of product in a sub-set of patients and compared these results to oleate FAO-flux. Fibroblast enzyme assay by UV-HPLC detection failed to clearly discriminate between some clinically presenting VLCADD patient cell lines and cell lines from some simple heterozygotes. FAO-flux clearly discriminated between clinically presenting VLCADD patients and the false positive screened patients. FAO-flux at 37 °C provides information as to the likely clinical phenotype but FAO-flux at 41 °C is the best discriminator for identifying clinically at risk patients.

  1. Results analysis of 6874 cases of newborn hearing screening in Tianjin Beichen district%天津市北辰区新生儿听力筛查6874例结果分析

    Institute of Scientific and Technical Information of China (English)

    费燕; 解畅

    2013-01-01

    目的:开展新生儿听力筛查,通过新生儿听力筛查工作的结果,了解先天性听力损失的发病率及其可能的高危因素,探讨早期筛查、诊断、随访、干预的可行性办法。方法:新生儿出生3d 后采用畸变产物耳声发射(DPOAE)进行初筛,未通过者及有听损伤高危因素的孩子42d 后,转诊至天津市妇女儿童保健中心用 DPOAE 和快速脑干反应(AABR)进行复筛,并跟踪追访。结果:初筛时正常儿童未通过率占11.08%,高危儿为15.84%。结论:先天性听力损伤在其他新生儿先天疾患中发病率最高,开展新生儿听力筛查非常必要,通过筛查可及早发现先天性听力障碍儿童,及早干预,利于婴幼儿言语-语言心理行为健康发育。%Objective:Conduct newborn hearing screening, by the results of newborn hearing screening;understand the incidence of congenital hearing loss and possible risk factors of it. Methods:3 days after newborn birth using distortion product otoacoustic emission (DPOAE) for screening. Did not pass screening and children with risk factors for hearing impairment were referral to a health center in Tianjin women and children after 42 days, given DPOAE and rapid auditory brainstem response (AABR) for rescreening and have track interrupted. Results:When first screening, normal children did not pass rate for 11.08%, high-risk children was 15.84%. Conclusion:In other newborns congenital disorders, with congenital hearing impairment have the highest incidence, so newborn hearing screening is necessary to carry out, by screening for early detection of congenital hearing impaired children, early intervention, which will help infant development of speech-language psychological and behavioral health.

  2. Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service

    Directory of Open Access Journals (Sweden)

    Zeni Drubi Nogueira

    2015-06-01

    Full Text Available OBJECTIVE: To study the breastfeeding history (BF and the anthropometric status of children with Sickle Cell Disease (SCD. METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and gender. RESULTS: The mean (SD age was 3.7 (1.1 years, 52.9% were boys and 53.5% had SCA (hemoglobin SS. The prevalence of exclusive breastfeeding (EBR up to six months of age was 31.5%, the median EBR times (p25-p75 was 90.0 (24.0-180.0 days and the median weaning ages (p25-p75 was 360.0 (90.0-720.0 days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01, and were weaned later (p<0.05. Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators.

  3. PID comes full circle: Applications of V(DJ recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders

    Directory of Open Access Journals (Sweden)

    Menno C. Van Zelm

    2011-05-01

    Full Text Available The vast majority of patients suffering from a primary immunodeficiency (PID have defects in their T- and/or B-cell compartments. Despite advances in molecular diagnostics, in many patients no underlying genetic defect has been identified. B- and T-lymphocytes are unique in their ability to create a receptor by genomic rearrangement of their antigen receptor genes via V(DJ recombination. During this process, stable circular excision products are formed that do not replicate when the cell proliferates. Excision circles can be reliably quantified using real-time quantitative (RQ-PCR techniques. Frequently occurring δREC–ψJα T-cell receptor excision circles (TRECs have been used to assess thymic output and intronRSS–Kde recombination excision circles (KREC to quantify B-cell replication history. In this perspective, we describe how TRECs and KRECs are formed during precursor- T and B cell differentiation, respectively. Furthermore, we discuss new insights obtained with TRECs and KRECs and specifically how these excision circles can be applied to support therapy monitoring, patient classification and newborn screening of PID.

  4. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

    OpenAIRE

    Dowsett, Leah; Lulis, Lauren; Ficicioglu, Can; Cuddapah, Sanmati

    2017-01-01

    An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency?a rare autosomal recessive disor...

  5. Screening a diverse soybean germplasm collection for reaction to purple seed stain caused by Cercospora kikuchii

    Science.gov (United States)

    Purple seed stain (PSS), caused by Cercospora kikuchii, is a prevalent soybean disease that causes latent seed infection, seed decay, purple seed discoloration, and overall quality deterioration. The objective of this research was to screen soybean accessions from the USDA germplasm collection for r...

  6. 76 FR 4709 - Extension of Agency Information Collection Activity Under OMB Review: Certified Cargo Screening...

    Science.gov (United States)

    2011-01-26

    ... off- airport and includes facilities upstream in the air cargo supply chain, such as shippers, manufacturers, warehousing entities, distributors, third party logistics companies, and Indirect Air Carriers... supply chain to accept, screen, and transport air cargo. The uninterrupted collection of this...

  7. 78 FR 38452 - Agency Information Collection (VA Police Officer Pre-Employment Screening Checklist) Activities...

    Science.gov (United States)

    2013-06-26

    ... AFFAIRS Agency Information Collection (VA Police Officer Pre-Employment Screening Checklist) Activities Under OMB Review AGENCY: Office of Policy, Planning and Preparedness, Department of Veterans Affairs... Management and Budget (OMB) for review and comment. The PRA submission describes the nature of...

  8. Newborn hearing screening in the Campania region (Italy): early language and perceptual outcomes of infants with permanent hearing loss.

    Science.gov (United States)

    Marciano, E; Laria, C; Malesci, R; Iadicicco, P; Landolfi, E; Niri, C; Papa, C; Franzè, A; Auletta, G

    2013-12-01

    Hearing loss in children causes a deficit in early perceptive and language skills. The objective of this study was to evaluate early receptive and expressive language outcomes in children with hearing loss, identified by hearing screening, compared to the time of diagnosis. We studied 18 severely hearing impaired children who were divided into two groups according to the time of diagnosis. Evaluation of communicative language ability was carried out at 18 month of age using the "MacArthur Child Development Inventory" questionnaire, while evaluation of acoustic-perceptual abilities was assessed with the Genovese-Arslan protocol every three months following diagnosis. The linguistic communicative and acoustic-perceptual outcomes of hearing impaired children diagnosed before 6 months of age followed those expected for normally hearing children, with a trend of temporal progression of skills that were faster than those of children diagnosed after 6 months of age.

  9. Big pharma screening collections: more of the same or unique libraries? The AstraZeneca-Bayer Pharma AG case.

    Science.gov (United States)

    Kogej, Thierry; Blomberg, Niklas; Greasley, Peter J; Mundt, Stefan; Vainio, Mikko J; Schamberger, Jens; Schmidt, Georg; Hüser, Jörg

    2013-10-01

    In this study, the screening collections of two major pharmaceutical companies (AstraZeneca and Bayer Pharma AG) have been compared using a 2D molecular fingerprint by a nearest neighborhood approach. Results revealed a low overlap between both collections in terms of compound identity and similarity. This emphasizes the value of screening multiple compound collections to expand the chemical space that can be accessed by high-throughput screening (HTS). Copyright © 2012 Elsevier Ltd. All rights reserved.

  10. Respostas falso-positivas na triagem auditiva neonatal universal: possíveis causas False-positive results in newborn universal hearing screening: possible causes

    Directory of Open Access Journals (Sweden)

    Maria Cristina Silva Simonek

    2011-04-01

    Full Text Available OBJETIVO: avaliar a ocorrência de respostas falso-positivas na Triagem Auditiva dentro de uma maternidade particular, suas possíveis causas e soluções. MÉTODOS: foram avaliados 1.110 recém-nascidos eutróficos entre 6 e 48 horas de vida no berçário, com o analisador de Emissões Otoacústicas Evocadas Transientes (EOATE modelo Echochek da Ilodynamics Ltd. Na ausência de resposta, foi realizada a manipulação do meato acústico externo (Manobra Facilitadora e colhido novo resultado. Os que falharam foram retestados em 15 dias. RESULTADOS: 50,09% dos RN falhou na primeira tentativa. Após a manobra facilitadora, 24,41% continuou falhando, mas demonstraram EOATE presentes no reteste. O tempo médio de internação foi de 42,27 h, sendo 93,42% oriundos de cesareana. Pertenciam a convênios particulares padrão enfermaria 98% e 2% quarto individual. A idade média do grupo que passou foi de 24,14 h (± 10,21 e a do grupo que falhou 19,19 horas (±8,43. Possuíam menos de 24 horas de vida no momento do teste 66,12% dos RN, foi constatado vérnix obliterante em 4.9%. CONLUSÃO: face a alta precoce hospitalar, é necessário que o Fonoaudiólogo realize o teste antes das 48 horas de vida do RN. Desta forma, além das causas biológicas inerentes a faixa etária, detectou-se um problema estrutural de administração hospitalar, que independe da habilidade ou experiência do Fonoaudiólogo. A Manobra Facilitadora é altamente recomendada.PURPOSE: to investigate the rate of false positive responses in a hospital - based newborn hearing screening program (NHS, their possible causes and solutions. METHODS: during the period we evaluated 1,110 regular nursery newborns, age 6 to 48 hours with Transient Evoked Otoacoustic Emissions (TEOAEs, Echocheck, Ilodynamics Ltd model., at the nurseries, before discharge. In case of absence of response, the ear canal was manipulated. Infants that failed the screening were retested fifteen days after birth

  11. Investigación de cocaína y marihuana en meconio de neonatos atendidos en un hospital público: Primera experiencia realizada en la ciudad Córdoba, Argentina Screening of cocaine and marijuana in meconium of newborns from a public hospital of city of Córdoba, Argentina

    Directory of Open Access Journals (Sweden)

    Andrés Suárez

    2009-12-01

    Full Text Available Se investigaron cocaína y marihuana en meconio de neonatos nacidos en la Maternidad Provincial de la Ciudad de Córdoba y se relacionaron los resultados con las semanas de gestación y los pesos al nacer. Las determinaciones se realizaron utilizando inmunoensayo y cromatografía gaseosa-espectrometría de masas. Se analizaron 48 muestras de meconio recolectadas durante un año (2007-2008. De los 48 meconios analizados, 17 correspondieron a neonatos masculinos y 31 a neonatos femeninos. Se procesaron en paralelo 15 muestras de meconio como controles normales (niños no expuestos a drogas seleccionados por historia clínica y controles prenatales. De las 48 muestras de meconio 13 fueron positivas para cocaína y/o marihuana. El peso y las semanas de gestación de los neonatos cuyas muestras fueron positivas se compararon frente a un grupo control normal, hallándose mayores diferencias estadísticamente significativas (α=0,05 - pWe investigated cocaine and marijuana in meconium of newborns attended at the Hospital Materno Provincial of Córdoba City and the results were correlated with birthweight and weeks of pregnancy. The samples were analyzed using immunoassay (FPIA and gas chromatography-mass spectrometry (GC-MS for confirmation. Forty eight samples of meconium were collected during one year period (2007-2008. Of the 48 samples screened, 17 correspond to masculine sex and 31 to feminine. Fifteen samples of meconium from normal newborns (newborns not exposed to drugs selected by maternal self report, pregnancy controls were processed as control group. The results obtained in 48 samples of meconium showed 13 cases tested positive for cocaine and/or marijuana. Birth weight and weeks of gestation of newborn with positive sample results were compared with a control group. A statistically significant difference (α= 0.05 - p<0.0001 was found in relation to birth weight. Although these results arise from a small number of samples, these data have

  12. Serological and parasitological screening of Trypanosoma cruzi infection in mothers and newborns living in two Chagasic areas of Mexico.

    Science.gov (United States)

    Olivera Mar, Amonario; Guillén Ortega, Fernando; Cruz Vidal, Salatiel; Hernández-Becerril, Nidia; Pérez Galdamez, Enrique; Córdova Concepción, Guzmán; Reyes, Pedro A; Monteón, Victor M

    2006-08-01

    Maternal-fetal transmission of Trypanosoma cruzi generally occurs in 2-12% of pregnant infected mothers. This transmission form has been poorly studied in Mexico where only one case of congenital infection published in 1998 has been reported. We screened 145 mothers and their delivered babies in two hospitals of endemic regions in Mexico (states of Chiapas and Veracruz) searching for anti-T. cruzi antibodies and circulating parasites by hemoculture and PCR. In Poza Rica, Veracruz, 3/85 (3.5%) mothers were seropositive for T. cruzi infection and in Palenque, Chiapas, 3/60 (5%) cases. In total 6/145 (4.1%) were seropositive subjects. Although cord blood samples of delivered babies from seropositive mothers have IgG anti-T. cruzi antibodies, none presented PCR and positive hemoculture. Although a high relative seroprevalence of T. cruzi infection in pregnant women was detected, no case of vertical transmission was recognized. Undoubtedly, further studies of large samples are necessary to evaluate maternal transmission risk in Mexico.

  13. 南宁市18005例新生儿α地中海贫血筛查结果分析%Analysis result of 18005 newborn α-thalassemia screening in Nanning

    Institute of Scientific and Technical Information of China (English)

    罗超; 李东明; 玉晋武; 李旺; 林彩娟; 俸诗瀚; 陈少科; 郑陈光

    2015-01-01

    目的:了解南宁市新生儿α地贫筛查情况。方法:使用全自动毛细管电泳仪对18005例新生儿血样进行筛查,筛查出Hb Bart’s>0者召回进行基因确诊。结果:检出Hb Bart’s>0共1932例,检出率为10.73%;其中静止型(0.2%~0.9%)608例,标准型(1%~6%)1259例,HbH病(6%~30%)53例。共召回647例阳性患儿进行基因检测,确诊622例,确诊率96.14%。结论:通过新生儿足跟血可以准确快速地筛查出α地贫,为临床提供参考。%Objective:To investigate the result of newborn α-thalassemia screening in Nanning.Method:Sebia Capillarys electrophoresis system was used in 18005 newborn screening, recall Hb Bart’s>0 and perform gene test.Result:1932 Hb Bart’s>0 cases was detected, detection rate was 10.73%, among them, static type(0.2%~0.9%) was 608 cases, standard type(1%~6%) was 1259 cases, HbH disease(6%~30%) was 53 cases. 647 newborns were recalled for gene test, 622 was conifrmed α-thalassemia, coincidency was 96.14%.Conclusion:Newborn heel blood can effectively and fast screen out who infected with α-thalassemia, so that provide reference for clinic.

  14. Anemia in the Newborn

    Science.gov (United States)

    ... Doctor About Emotional Struggles Additional Content Medical News Anemia in the Newborn By Arthur E. Kopelman, MD, ... of Prematurity Necrotizing Enterocolitis (NEC) Jaundice in Newborns Anemia in the Newborn Polycythemia in the Newborn Thyroid ...

  15. Comparison of a full systematic review versus rapid review approaches to assess a newborn screening test for tyrosinemia type 1.

    Science.gov (United States)

    Taylor-Phillips, Sian; Geppert, Julia; Stinton, Chris; Freeman, Karoline; Johnson, Samantha; Fraser, Hannah; Sutcliffe, Paul; Clarke, Aileen

    2017-07-13

    Rapid reviews are increasingly used to replace/complement systematic reviews to support evidence-based decision-making. Little is known about how this expedited process affects results. To assess differences between rapid and systematic review approaches for a case study of test accuracy of succinylacetone for detecting tyrosinemia type 1. Two reviewers conducted an "enhanced" rapid review then a systematic review. The enhanced rapid review involved narrower searches, a single reviewer checking 20% of titles/abstracts and data extraction, and quality assessment using an unadjusted QUADAS-2. Two reviewers performed the systematic review with a tailored QUADAS-2. Post hoc analysis examined rapid reviewing with a single reviewer (basic rapid review). Ten papers were included. Basic rapid reviews would have missed 1 or 4 of these (dependent on which reviewer). Enhanced rapid and systematic reviews identified all 10 papers; one paper was only identified in the rapid review through reference checking. Two thousand one hundred seventy-six fewer title/abstracts and 129 fewer full texts were screened during the enhanced rapid review than the systematic review. The unadjusted QUADAS-2 generated more "unclear" ratings than the adjusted QUADAS-2 [29/70 (41.4%) versus 16/70 (22.9%)], and fewer "high" ratings [22/70 (31.4%) versus 42/70 (60.0%)]. Basic rapid reviews contained important inaccuracies in data extraction, which were detected by a second reviewer in the enhanced rapid and systematic reviews. Enhanced rapid reviews with 20% checking by a second reviewer may be an appropriate tool for policymakers to expeditiously assess evidence. Basic rapid reviews (single reviewer) have higher risks of important inaccuracies and omissions. Copyright © 2017 John Wiley & Sons, Ltd.

  16. Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.

    Science.gov (United States)

    de Ru, Minke H; Bouwman, Machtelt G; Wijburg, Frits A; van Zwieten, Myra C B

    2012-11-01

    Newborn screening (NBS) techniques have been developed for several lysosomal storage disorders (LSDs), including Mucopolysaccharidosis type I (MPS I). MPS I is an LSD with a wide phenotypic spectrum that ranges from the severe Hurler phenotype to the attenuated Scheie phenotype. To improve the ethical discussion about NBS for MPS I, we performed an interview study to explore the experiences of MPS I patients and their parents with the timings of their diagnoses. We used a qualitative research approach consisting of 17 interviews with the parents of patients with all MPS I phenotypes and with patients with attenuated forms of MPS I. The interviews were audio-recorded, transcribed and subsequently analyzed to identify the main themes identified by the participants. Five important themes, focusing on the experienced disadvantages of delayed diagnosis and the advantages and disadvantages of a hypothetical earlier diagnosis, were identified in our group of participants: 1) delayed diagnosis causing parental frustration, 2) delayed diagnosis causing patient frustration, 3) early diagnosis enabling reproductive decision-making, 4) early diagnosis enabling focusing on the diagnosis, and 5) early diagnosis enabling timely initiation of treatment. There was a remarkable similarity in the experiences with timing of diagnosis between parents of patients with the severe and the attenuated forms. This was the first study to explore the personal experiences of MPS I patients and their parents with diagnostic timing. Our study identified five important themes that are highly relevant to the ethical discussion on expanding NBS programs for MPS I. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. [Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service].

    Science.gov (United States)

    Nogueira, Zeni Drubi; Boa-Sorte, Ney; Leite, Maria Efigênia de Queiroz; Kiya, Márcia Miyuki; Amorim, Tatiana; Fonseca, Silvana Fahel da

    2015-01-01

    To study breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). A cross-sectional study of 357 children with SS and SC hemoglobinopathies aged between 2 and 6 years old receiving regular follow-up at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and sex. The average (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SS hemoglobinopathy. The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-20.0) days respectively. Normal W/H children experienced EBR for an average duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had SS hemoglobinopathy and were over 4 years of age. EBR time and weaning age were greater than found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBR and later weaning were associated with improved anthropometric indicators. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  18. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

    Directory of Open Access Journals (Sweden)

    Touw Catharina M L

    2012-05-01

    Full Text Available Abstract Background Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD deficiency in population newborn bloodspot screening (NBS programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme genotypes that have never been identified in clinically ascertained patients. It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes. Methods We performed a retrospective cohort study of all patients identified upon population NBS for MCAD deficiency in the Netherlands between 2007–2010. Clinical, molecular, and enzymatic data were integrated. Results Eighty-four patients from 76 families were identified. Twenty-two percent of the subjects had a variant ACADM genotype. In patients with classical ACADM genotypes, residual MCAD enzyme activity was significantly lower (median 0%, range 0-8% when compared to subjects with variant ACADM genotypes (range 0-63%; 4 cases with 0%, remainder 20-63%. Patients with (fatal neonatal presentations before diagnosis displayed residual MCAD enzyme activities Conclusions Determination of residual MCAD enzyme activity improves our understanding of variant ACADM genotypes and may contribute to risk stratification. Subjects with variant ACADM genotypes and residual MCAD enzyme activities ACADM genotypes. Parental instructions and an emergency regimen will remain principles of the treatment in any type of MCAD deficiency, as the effect of intercurrent illness on residual MCAD enzyme activity remains uncertain. There are, however, arguments in favour of abandoning the general advice to avoid prolonged fasting in subjects with variant ACADM genotypes and >10% residual MCAD enzyme activity.

  19. Recent trends and observations in the design of high-quality screening collections.

    Science.gov (United States)

    Renner, Steffen; Popov, Maxim; Schuffenhauer, Ansgar; Roth, Hans-Joerg; Breitenstein, Werner; Marzinzik, Andreas; Lewis, Ian; Krastel, Philipp; Nigsch, Florian; Jenkins, Jeremy; Jacoby, Edgar

    2011-04-01

    The design of a high-quality screening collection is of utmost importance for the early drug-discovery process and provides, in combination with high-quality assay systems, the foundation of future discoveries. Herein, we review recent trends and observations to successfully expand the access to bioactive chemical space, including the feedback from hit assessment interviews of high-throughput screening campaigns; recent successes with chemogenomics target family approaches, the identification of new relevant target/domain families, diversity-oriented synthesis and new emerging compound classes, and non-classical approaches, such as fragment-based screening and DNA-encoded chemical libraries. The role of in silico library design approaches are emphasized.

  20. Semi-High Throughput Screening for Potential Drought-tolerance in Lettuce (Lactuca sativa) Germplasm Collections.

    Science.gov (United States)

    Knepper, Caleb; Mou, Beiquan

    2015-04-17

    This protocol describes a method by which a large collection of the leafy green vegetable lettuce (Lactuca sativa L.) germplasm was screened for likely drought-tolerance traits. Fresh water availability for agricultural use is a growing concern across the United States as well as many regions of the world. Short-term drought events along with regulatory intervention in the regulation of water availability coupled with the looming threat of long-term climate shifts that may lead to reduced precipitation in many important agricultural regions has increased the need to hasten the development of crops adapted for improved water use efficiency in order to maintain or expand production in the coming years. This protocol is not meant as a step-by-step guide to identifying at either the physiological or molecular level drought-tolerance traits in lettuce, but rather is a method developed and refined through the screening of thousands of different lettuce varieties. The nature of this screen is based in part on the streamlined measurements focusing on only three water-stress indicators: leaf relative water content, wilt, and differential plant growth following drought-stress. The purpose of rapidly screening a large germplasm collection is to narrow the candidate pool to a point in which more intensive physiological, molecular, and genetic methods can be applied to identify specific drought-tolerant traits in either the lab or field. Candidates can also be directly incorporated into breeding programs as a source of drought-tolerance traits.

  1. 17000名新生儿遗传性耳聋基因突变筛查%Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis

    Institute of Scientific and Technical Information of China (English)

    吕康模; 熊业华; 俞皓; 邹玲; 冉隆荣; 刘德顺; 殷勤; 徐应文; 方雪

    2014-01-01

    Objective To achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital,prenatal and postnatal genetic counseling.Methods A total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents.Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits.Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used.Nine hot mutations including GJB2 (35delG,176del16,235delC and 299delAT),GJB3 (538C > T),SLC26A4 (IVS 7-2 A> G,2168 A > G),and mitochondrial DNA 12S rRNA(1555 A>G,1494 C>T) were detected by PCR amplification and microarray hybridization.Mutations detected by microarray were verified by Sanger DNA sequencing.Results Of the 17 000 newborns,542 neonates had mutations of the 4 genes.Heterozygous mutations of GJB2,at 235delC,299delAT,and 176del16 were identified in 254,55,and 15 newborns,respectively.Two newborns had homozygous mutation of GJB2,235delC.Heterozygous mutations at 538C>T of GJB3,2168A>G and IVS 7-2A>G of SLC26A4 were found in 23,17 and 128 newborns,respectively.For mutation analysis of mitochondrial DNA 12S rRNA,1494C > T and 1555A > G were homogeneous mutations in 4 and 42 neonates,respectively.In addition,6 complexity mutations were detected,which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4,IVS7 2A> G,one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation,1555 A>G,one heterozygous mutations at GJB2,299delAT,and GJB3,538C>T,one at GJB2,299delAT and 12S rRNA,1555 A> G,two at GJB2,299delAT,and SLC26A4,IVS7-2A> G.All mutations as above were confirmed by DNA sequencing.Conelusion The total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu.Mutations of GJB2 and SLAC26A4 are major ones (86.5% of

  2. Screening results of deafness gene mutations in 4 679 newborns in Nanning%南宁市4679例新生儿突变耳聋基因筛查结果

    Institute of Scientific and Technical Information of China (English)

    杜娟; 许涓涓; 黄萍丽; 付华钰

    2015-01-01

    Objective To understand the newborns ' carrying situation of the mutation of deafness-related genes in Nanning. Methods Samples of heel blood were collected from 4 679 newborns in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region who were born in 3-5 days. DNA samples were extracted and detected by Matrix-assis-ted Laser Desorption-Ionization Time of Flight Mass Spectrometry ( MALDI-TOF-MS ) , including 20 mutation sites of 4 deafness-related genes ( GJB2, GJB3, SLC26A4 and 12SrRNA). Results Among 4 679 newborns, 143 cases (3. 056%) were detected with 13 mutation types, which included 76 cases of GJB2 (235delC, 299_300delAT, 176_191del16) gene mutation, 5 cases of GJB3 (538C>T, 547G>A) gene mutation, 48 cases of SLC26A4 ( IVS7-2A>G, 1174A>T, 1229C>T, 1975G>C, 2027T>A, 2168A>G) gene mutation and 14 cases of 12SrRNA (1555A>G) gene mutation. Conclusion The mutation of deafness-related gene screening in neonates may be useful in early detection of de-layed deafness and it helps for the prevention and control of hearing impairment.%目的:了解南宁市新生儿突变耳聋基因携带情况。方法选择在广西壮族自治区妇幼保健院出生3~5 d的新生儿4679例,采集其足跟末稍静脉血,提取 DNA,采用基质辅助激光解吸电离飞行时间质谱技术检测GJB2、GJB3、SLC26A4、12SrRNA四个耳聋基因的20个突变位点。结果4679例新生儿中有143例检出四个耳聋基因的13种突变类型,突变耳聋基因携带率为3.056%。 GJB2基因检出235delC、299_300delAT、176_191del16三种突变共76例,GJB3基因检出538C >T、547G >A 两种突变5例,SLC26A4基因检出 IVS7-2A >G、1174A >T、1229C>T、1975G>C、2027T>A、2168A>G、六种突变48例,12SrRNA基因检出1555A>G突变14例。结论通过突变耳聋基因筛查可早期发现迟发性耳聋患儿,为人群听力障碍防控提供帮助。

  3. Analysis of Hearing Screening of Newborn on Bed After Bathing and Touching%新生儿沐浴抚触后床边听力筛查效果的分析

    Institute of Scientific and Technical Information of China (English)

    刘玉青

    2014-01-01

    目的:探讨在床边沐浴抚触吃饱奶后对新生儿听力筛查的影响,提高首次筛查通过率。方法选择我科出生的新生儿1000例,分两组。对照组500例每天上午由专职工作人员在专用房间里进行听力筛查,干预组500例,每天上午沐浴抚触吃饱奶后到床边筛查。结果干预组新生儿首次筛查通过率、再次筛查通过率与对照组比较,差异有统计学意义(P<0.01)。结论沐浴抚触吃饱奶后再到床边筛查能降低新生儿听力筛查假阳性率,提高首次通过率,可减少住院期间重复测试和出院后的随访复查,从而减轻了家长的心理压力和经济负担。%Objective Explore the infiuence of newborn hearing screening in the bed bathing, touching and eating milk, to improve the first screening pass rat. Method Select Branch newborns born 1000 cases, divided into two groups. The control group of 500 cases were screened every morning by the full-time staff dedicated room, intervention group of 500 cases, were screened in the bed bathing, touching and eating milk. Result The neonatal intervention group first screening pass rate, again screened through rate compared to the control group, the difference was statistically significant(P<0.01). Conclusion Massage bath and then to the bedside newborn hearing screening can reduce the false positive rate to improve screening through rate for the first time, can reduce repeated testing during hospitalization and post-discharge follow-up review, so as to reduce the psychological stress of parents and economicburden.

  4. Purpose of Newborn Hearing Screening

    Science.gov (United States)

    ... that help with hearing loss and learning important communication skills. That is why the American Academy of Pediatrics ( ... for communicating with your baby including total communication, oral communication, cued speech, and American Sign Language. The Individuals ...

  5. An Analysis of Newborn Hearing Screening Results In Obstetrics and Neonatal Intensive Care Units%正常和重症监护病房新生儿听力筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    梁永宏; 劳霞; 杨福均

    2011-01-01

    Objective To analyze the results of newborn hearing screening in obstetrics and neonatal intensive care unit (NICU). Methods Distortion product otoacoustic emission (DPOAE) was used to undertake initial screening to the newborns between 2 ~ 5 days at our hospital and the initial screening to the newborns at the neonatal intensive care unit after conditions were stabilized. Those who failed to pass the initial screening received rescreening on the 42nd day. For the newborn failed in the rescreening, they would be transferred to provincial hospitals for auditory brainstem response (ABR) and/or auditory steady-state responses (ASSR) examination when they were 3 months old. Results 3 668 newborn out of 3 778 in the obstetrics department received hearing screening. The initial screening rate was 97. 09% (3 668/3 778). 342 cases failed in their initial screening, with the positive rate of 9. 32% (342/3 668); 342 received a rescreening but actually 144 cases were undertaken the rescreening with the rescreening rate at 42. 11% (144/342). 40 cases failed in a repetitive screening, with the positive rate of 27. 7% (40/ 144). Referral 25 cases, eventually diagnosed congenital hearing loss in 7 cases 1. 91‰(7/3 668), 2 665 cases of newborn at NICU received initial hearing screening with an initial screening rate of 100%, of whom 330 cases failed in the initial hearing screening, with a positive rate of 12. 3% (330/2 665). 330 cases for a repetitive screening with only 46 cases received actual screening, and the screening rate was 13, 94% (46/330), 8 cases failed in a rescreening, with a positive rate of 7. 39% (8/46). The actual referral in 6,eventually diagnosed congenital hearing loss in 2 cases 0. 75‰(2/2 665) ,of whom, one newborn suffered hypoxic Sachemic encephalopathy, and the other case suffered severe neonatal asphyxia. Altogether 9 cases have hearing loss in the two groups, with total hearing loss rate of 1. 42‰(9/6 333). 6 had mild hearing loss, 2 severe and

  6. 影响新生儿听力筛查假阳性的因素分析%The Analysis of Influence Factors of Newborn Hearing Screening False Positive Rate

    Institute of Scientific and Technical Information of China (English)

    林莉

    2015-01-01

    目的:探讨临床上新生儿听力筛查假阳性以及复查率的影响因素。方法:对来本院筛查的4080例新生儿相关资料进行分析,对所有新生儿进行听力筛查,将初筛不通过的436例新生儿作为试验组,设置研究前初筛不通过的436例作为对照组,比较两组复查结果。结果:6组新生儿每组有680例,A组中110例初筛不通过,且81例假阳性;B组95例初筛不通过,57例假阳性;C组67例初筛不通过,40例假阳性;D组78例初筛不通过,62例假阳性;E组49例初筛不通过,24例假阳性;F组37例初筛不通过,18例假阳性;试验组新生儿出生42 d后349例进行复查,复查率为80.1%,高于对照组,两组比较差异有统计学意义(P<0.05)。结论:听力筛查是早期发现、早期干预听力障碍的重要手段,临床上加强宣传教育提高新生儿复查率。%Objective:To investigate the factors of newborn hearing screeningfalse positive and the clinical effect of review rate.Method:The related data analysis of 4080 cases of newborn in our hospital were selected, hearing screening of all newborns, the screening of 436 cases of neonatal fail as the experimental group, set before the study by screening 436 cases as the control group, two groups were compared the results of the review.Result:Six newborns in each group had 680 cases,A group of 110 cases without going through screening, and 81 cases were false-positive; B group of 95 cases without screening,57 cases were false-positive; C group of 67 cases screening were not passed, 40 cases were false-positive; D group of 78 cases without screening, 62 cases were false-positive; E group of 49 patients without screening, 24 cases were false-positive; F group, 37 cases without screening, 18 cases were false-positive.In the experimental group 349 cases for review, the review was 80.1% higher than the control group, the difference was statistically significant (P<0

  7. Buen Comienzo, Buen Futuro: Su Recien Nacido. (Healthy Start, Grow Smart: Your Newborn).

    Science.gov (United States)

    Department of Education, Washington, DC.

    This booklet offers guidance to parents in caring for their newborn babies. Advice is given on the following topics: (1) newborn health screening; (2) what a healthy newborn looks like; (3) newborn reflexes; (4) baby checkups; (5) fathers' role; (6) the baby blues; (7) sleeping position; (8) breast milk; (9) breast feeding; (10) bottle feeding;…

  8. A enfermagem na triagem neonatal - DOI: 10.4025/actascihealthsci.v25i2.2226 Nursing in newborn screening - DOI: 10.4025/actascihealthsci.v25i2.2226

    Directory of Open Access Journals (Sweden)

    Ivete Sanson Zagonel

    2003-04-01

    Full Text Available Estudo realizado junto ao Serviço de Referência em Triagem Neonatal no estado do Paraná (Fepe, objetivando identificar o índice de coletas de sangue inadequadas recebidas pelo laboratório da Fepe, para realização do exame, no período de janeiro a dezembro de 2002. Foram estudadas fichas cadastrais dos registros internos do laboratório da Fepe, e analisados 222.366 exames, em que identificamos 2.787 com necessidade de repetição por imperícia e erros técnicos nas coletas. Os critérios utilizados na classificação foram: transfusão de sangue, sangue insuficiente, hemolisado, envelhecido, excesso, contaminado e ressecado. Com base nos dados levantados e analisados, verificamos que os maiores índices de erros estão no sangue insuficiente e envelhecido, indicando dificuldades na execução da técnica de coleta, que podem estar relacionadas à falta de conhecimento técnico-científico e desvalorização do exame, às trocas de profissionais treinados por outros não qualificados e à demora significativa no envio das amostras de sangue ao laboratório, realçando a falta de sensibilidade quanto à importância do exame.This paper deals with a study undertaken at Paraná Newborn Screening Reference Service (Fepe. Its aim was to identify the level of inadequate blood samples received by Fepe laboratory for testing from January to December 2002. A study was made from Fepe Laboratory internal medical records and 222,366 tests were examined, in which we identified 2,787 as needing to be repeated due to mistakes made during sample collection. The criteria used for classification were as follows: blood transfusion, insufficient, haemolysed, old, excess, contaminated and dried blood. Based on obtained and analysed data, we were able to determine that the greatest amount of errors relates to insufficient and old blood, indicating difficulties in carrying out the collection technique, which may be concerned to: lack of technical and

  9. Sleep and Newborns

    Science.gov (United States)

    ... 12-Month-Old Bed-Sharing All About Sleep Sleep and Your 1- to 2-Year-Old Communication and Your Newborn Medical Care and Your Newborn Your Newborn's Growth Choosing Safe Baby Products: Cribs Flat Head Syndrome ( ...

  10. RT-PCR Screening for ETV6-RUNX1-positive Clones in Cord Blood From Newborns in the Danish National Birth Cohort

    DEFF Research Database (Denmark)

    Olsen, Marianne; Hjalgrim, Henrik; Melbye, Mads;

    2012-01-01

    BACKGROUND:: Several large biobanks comprising umbilical cord blood samples have been established allowing efforts to characterize the prevalence and risk factors for preleukemic cell clones in healthy newborns. This study explores the feasibility of demonstrating translocation ETV6-RUNX1 transcr...... history of childhood acute lymphoblastic leukemia. Finally, the estimated frequency of translocation ETV6-RUNX1-positive cells was below 10....

  11. The Complex Interaction between Home Environment, Socioeconomic Status, Maternal IQ and Early Child Neurocognitive Development: A Multivariate Analysis of Data Collected in a Newborn Cohort Study.

    Directory of Open Access Journals (Sweden)

    Luca Ronfani

    Full Text Available The relative role of socioeconomic status (SES, home environment and maternal intelligence, as factors affecting child cognitive development in early childhood is still unclear. The aim of this study is to analyze the association of SES, home environment and maternal IQ with child neurodevelopment at 18 months.The data were collected prospectively in the PHIME study, a newborn cohort study carried out in Italy between 2007 and 2010. Maternal nonverbal abilities (IQ were evaluated using the Standard Progressive Matrices, a version of the Raven's Progressive Matrices; a direct evaluation of the home environment was carried out with the AIRE instrument, designed using the HOME (Home Observation for Measurement of the Environment model; the socioeconomic characteristics were evaluated using the SES index which takes into account parents occupation, type of employment, educational level, homeownership. The study outcome was child neurodevelopment evaluated at 18 months, with the Bayley Scales of Infant and Toddler Development Third Edition (BSID III. Linear regression analyses and mediation analyses were carried out to evaluate the association between the three exposures, and the scaled scores of the three main scales of BSID III (cognitive, language and motor scale, with adjustment for a wide range of potential explanatory variables.Data from 502 mother-child pairs were analyzed. Mediation analysis showed a relationship between SES and maternal IQ, with a complete mediation effect of home environment in affecting cognitive and language domains. A direct significant effect of maternal IQ on the BSID III motor development scale and the mediation effect of home environment were found.Our results show that home environment was the variable with greater influence on neurodevelopment at 18 months. The observation of how parents and children interact in the home context is crucial to adequately evaluate early child development.

  12. The Complex Interaction between Home Environment, Socioeconomic Status, Maternal IQ and Early Child Neurocognitive Development: A Multivariate Analysis of Data Collected in a Newborn Cohort Study.

    Science.gov (United States)

    Ronfani, Luca; Vecchi Brumatti, Liza; Mariuz, Marika; Tognin, Veronica; Bin, Maura; Ferluga, Valentina; Knowles, Alessandra; Montico, Marcella; Barbone, Fabio

    2015-01-01

    The relative role of socioeconomic status (SES), home environment and maternal intelligence, as factors affecting child cognitive development in early childhood is still unclear. The aim of this study is to analyze the association of SES, home environment and maternal IQ with child neurodevelopment at 18 months. The data were collected prospectively in the PHIME study, a newborn cohort study carried out in Italy between 2007 and 2010. Maternal nonverbal abilities (IQ) were evaluated using the Standard Progressive Matrices, a version of the Raven's Progressive Matrices; a direct evaluation of the home environment was carried out with the AIRE instrument, designed using the HOME (Home Observation for Measurement of the Environment) model; the socioeconomic characteristics were evaluated using the SES index which takes into account parents occupation, type of employment, educational level, homeownership. The study outcome was child neurodevelopment evaluated at 18 months, with the Bayley Scales of Infant and Toddler Development Third Edition (BSID III). Linear regression analyses and mediation analyses were carried out to evaluate the association between the three exposures, and the scaled scores of the three main scales of BSID III (cognitive, language and motor scale), with adjustment for a wide range of potential explanatory variables. Data from 502 mother-child pairs were analyzed. Mediation analysis showed a relationship between SES and maternal IQ, with a complete mediation effect of home environment in affecting cognitive and language domains. A direct significant effect of maternal IQ on the BSID III motor development scale and the mediation effect of home environment were found. Our results show that home environment was the variable with greater influence on neurodevelopment at 18 months. The observation of how parents and children interact in the home context is crucial to adequately evaluate early child development.

  13. Comparison of Different Blood Collection, Sample Matrix, and Immunoassay Methods in a Prenatal Screening Setting

    Directory of Open Access Journals (Sweden)

    Jeroen L. A. Pennings

    2014-01-01

    Full Text Available We compared how measurements of pregnancy-associated plasma protein A (PAPP-A and the free beta subunit of human chorionic gonadotropin (fβ-hCG in maternal blood are influenced by different methods for blood collection, sample matrix, and immunoassay platform. Serum and dried blood spots (DBS were obtained by venipuncture and by finger prick of 19 pregnant women. PAPP-A and fβ-hCG from serum and from DBS were measured by conventional indirect immunoassay on an AutoDELFIA platform and by antibody microarray. We compared methods based on the recoveries for both markers as well as marker levels correlations across samples. All method comparisons showed high correlations for both marker concentrations. Recovery levels of PAPP-A from DBS were 30% lower, while those of fβ-hCG from DBS were 50% higher compared to conventional venipuncture serum. The recoveries were not affected by blood collection or immunoassay method. The high correlation coefficients for both markers indicate that DBS from finger prick can be used reliably in a prenatal screening setting, as a less costly and minimally invasive alternative for venipuncture serum, with great logistical advantages. Additionally, the use of antibody arrays will allow for extending the number of first trimester screening markers on maternal and fetal health.

  14. The Clinical Applications of Newborn Deafness Gene Screening and Genetic Counseling%新生儿聋病基因筛查及咨询的临床意义

    Institute of Scientific and Technical Information of China (English)

    高儒真; 陈晓巍; 历东东; 姜鸿

    2015-01-01

    目的:通过新生儿致聋基因突变筛查、遗传咨询及随访,分析新生儿常见遗传性耳聋基因的突变频率、类型及听力表型,探讨耳聋基因筛查联合新生儿听力筛查对漏筛风险的规避性及遗传咨询的应用范围和临床价值。方法分析北京市新生儿血样44200例,应用微阵列芯片法检测中国人常见的4个致聋基因的9个突变位点,对检出者进行随访并提供遗传咨询。结果本组新生儿耳聋基因突变检出率为4.26%(1884例);GJB2(1027例)与SLC26A4(617例)基因突变占比最高,总携带率为3.72%;致聋药物易感基因线粒体DNA基因突变率达0.25%(112例);明确单个耳聋基因纯合及复合性突变16例,同时携带不同基因突变个体21例;以可随访新生儿998例为进一步研究对象,建立并实践筛查阳性个体听力随访流程及遗传咨询规范。结论新生儿听力筛查联合耳聋基因筛查可有效提前确诊遗传性耳聋的时间;基因筛查可用于指导遗传咨询,通过建立病历追访和听力随访体系、掌握咨询要点,可避免、预防和减少耳聋的发生,并有效指导家族成员婚育。%Objective To determine the prevalence of deafness gene mutations in newborns and provide clinical experience for newborn genetic screening and effective genetic counseling.Methods The blood samples of 44200 newborns in Beijing were screened for hot spot mutations of GJB2,GJB3,SLC26A4 and MTRNR1 associated with hearing loss. The genetic screening results were comprehensively analyzed with hearing results in genetic counseling.Results 1 or 2 pathogenic mutations were identified in 1884(4.26%)individuals.Among them, mutations of GJB2 and SLC26A4 were commom with the rate of 3.72%.112 babies were found to carry the MTRNR1 mutation.16 compound heterozygotes and homozygotes were also identified. 21 newborns showed 2 mutations in 2 different genes.998 newborns visited

  15. Requalification of a Brazilian Trichoderma Collection and Screening of Its Capability to Decolourise Real Textile Effluent.

    Science.gov (United States)

    Silva Lisboa, Dianny; Santos, Cledir; Barbosa, Renan N; Magalhães, Oliane; Paiva, Laura M; Moreira, Keila A; Lima, Nelson; Souza-Motta, Cristina M

    2017-04-01

    Water contamination with large amounts of industrial textile coloured effluents is an environmental concern. For the treatment of textile effluents, white-rot fungi have received extensive attention due to their powerful capability to produce oxidative (e.g., ligninolytic) enzymes. In addition, other groups of fungi, such as species of Aspergillus and Trichoderma, have also been used for textile effluents treatment. The main aim of the present study was to requalify a Brazilian Trichoderma culture collection of 51 Trichoderma strains, isolated from different sources in Brazil and preserved in the oldest Latin-American Fungal Service Culture Collection, The Micoteca URM WDCM 804 (Recife, Brazil). Fungal isolates were re-identified through a polyphasic approach including macro- and micro-morphology and molecular biology, and screened for their capability to decolourise real effluents collected directly from storage tanks of a textile manufacture. Trichoderma atroviride URM 4950 presented the best performance on the dye decolourisation in real textile effluent and can be considered in a scale-up process at industrial level. Overall, the potential of Trichoderma strains in decolourising real textile dye present in textile effluent and the production of the oxidative enzymes Lac, LiP and MnP was demonstrated. Fungal strains are available in the collection e-catalogue to be further explored from the biotechnological point of view.

  16. Analysis of the Eye Diseases Screening Results of 933 Newborns by Ret Cam III%Ret CamⅢ筛查新生儿眼底病933例结果分析

    Institute of Scientific and Technical Information of China (English)

    陈刚; 杜梅; 李一青; 李梅君; 刘丽清

    2016-01-01

    Objective:To explore the application value of Ret Cam III in eye diseases screening in newborns, and to understand the oncome situation of fundus diseases for providing basis for the prevention and treatment of eye diseases in newborns. Methods: Ret Cam III was used to screen eye diseases in 933 newborns in this hospital from March 2015 to August 2015 and the discussion and analysis were carried out for the results. Results:87 cases of fundus diseases were detected among 933 newborns(9.32%), including 64 cases of fundus hemorrhage(6.86%);18 cases of retinopathy in premature infants(1.93%);5 cases of other eye diseases(0.54%);2 cases of optic atrophy(0.21%);2 cases of familial exudative vitreoretinopathy(0.21%);1 case of permanent hyaloid artery stump (0.11%). Conclusion:Because fundus diseases in newborns are not easy to be noticed at early stage, so it's necessary to pay attention to the screening, especially for the premature infants, and full term infants with high risk factors. Ret Cam III is easy to operate with wide range of observation, which is beneficial for promoting the diagnosis rate of fundus diseases in newborns, and for noticing and treating the diseases at early stage effectively.%目的:探讨Ret CamⅢ在新生儿眼底病筛查中的应用价值,了解新生儿眼底病发病情况,为新生儿眼病防治提供依据。方法:使用Ret CamⅢ对2015年3月至2015年8月生产及住院的933例新生儿进行眼病筛查,并对结果进行讨论分析。结果:933例新生儿中共检出眼底病变87例(占9.32%),其中眼底出血64例(占6.86%);早产儿视网膜病变18例(占1.93%);其他眼底病5例(占筛查总人数0.54%),其中视神经萎缩2例(占0.21%),家族渗出性玻璃体视网膜病变2例(占0.21%),永存性玻璃体动脉残留1例(占0.11%)。结论:新生儿眼底病早期可无明显症状,不易被发现,应重视早期筛查。早产儿及伴有高危因素的

  17. Caracterização da triagem auditiva neonatal da Clínica Limiar em Porto Velho - Rondônia Newborn hearing screening in the Limiar Clinic in Porto Velho - Rondônia

    Directory of Open Access Journals (Sweden)

    Marilia Silva e Nunes Botelho

    2010-10-01

    Full Text Available Triagem auditiva neonatal de rotina é capaz de detectar precocemente alterações auditivas que poderão interferir na vida do indivíduo. OBJETIVO: Caracterizar o programa de triagem auditiva neonatal em uma população de neonatos. MATERIAL E MÉTODO: Estudo de coorte histórico longitudinal. Levantamento no banco de dados da clínica responsável pela triagem auditiva neonatal na cidade Porto Velho-RO do período de fevereiro de 2004 a outubro de 2006. RESULTADOS: Dos 6889 recém-nascidos cadastrados, 5700 (82,7% passaram e 1189 (17,3% falharam na primeira etapa da triagem. Dos que falharam 900 (75,7% compareceram para o reteste. Dentre estes, 15 (0,22% recémnascidos tiveram deficiência auditiva confirmada. A deficiência auditiva mais prevalente foi à perda auditiva neural com 46,7% dos casos confirmados, tendo como indicador de risco mais prevalente a hiperbilirrubinemia. CONCLUSÃO: A hiperbilirrubinemia apresentou maior prevalência dentre os indicadores de risco encontrados nos recém-nascidos com deficiência auditiva confirmada. A prevalência de perda auditiva observada é de dois recém-nascidos para cada 1000 nascidos. Observa-se ainda uma correlação estatisticamente significante entre a perda auditiva neural com o indicador de risco hiperbilirrubinemia e perda auditiva neurossensorial com a etiologia desconhecida.With the universal hearing screening we can prevent auditory disorders in children. AIM: To characterize the program of neonatal auditory screening into a population of neonates. MATERIALS AND METHODS: longitudinal cohort study. We surveyed the clinic's database on neonatal auditory screening in the city of Porto Velho, Rondônia. RESULTS: Among the 6,889 newborns in the database, 5,700 (82.7% passed and 1,189 (17.3% failed the first screening. Of the group which failed 900 (75.7 % returned for retesting. Among these, 15 (0.22 % newborns had hearing loss confirmed. The most prevalent was neural hearing loss with 46

  18. Triagem auditiva neonatal: motivos da evasão das famílias no processo de detecção precoce Newborn hearing screening: reasons for the evasion of families in the process of early detection

    Directory of Open Access Journals (Sweden)

    Kátia de Feitas Alvarenga

    2012-01-01

    Full Text Available OBJETIVO: Analisar os motivos da evasão familiar no programa de triagem auditiva neonatal realizado em um hospital público e correlacioná-los com a distribuição demográfica das famílias e as características do programa. MÉTODOS: Participaram 132 famílias, de um total de 739 contatadas, cujos filhos nasceram em uma maternidade no interior do estado de São Paulo de outubro/2003 a dezembro/2005 e que não haviam comparecido para a realização do teste ou reteste da triagem auditiva neonatal. Foi aplicado um questionário de levantamento das causas de evasão, contendo perguntas relacionadas à triagem auditiva, nível de escolaridade e profissão dos pais e também sobre a audição e o desenvolvimento de linguagem da criança. RESULTADOS: Realizou-se a aplicação do questionário com 132 famílias (17,86%; com as demais não foi obtido contato. Deste total, 82 haviam faltado na primeira etapa da triagem auditiva (teste e 50 não haviam retornado para realização do reteste. Os motivos mais frequentes para justificar a evasão foram o desinteresse e a dificuldade em conciliar o agendamento com a rotina familiar. Não houve associação entre os motivos da evasão e o nível de escolaridade e ocupação dos pais, nem com o profissional que realizou a orientação acerca da triagem auditiva. Não foi referido nenhum caso de alteração auditiva, nem de atraso significativo no desenvolvimento da linguagem. CONCLUSÃO: Os motivos da evasão familiar independem de variáveis voltadas à família e à dinâmica do programa de triagem auditiva.PURPOSE: To analyze the reasons for evasion of the families from the newborn hearing screening program conducted at a public hospital, and to correlate them with the demographic distribution of the families and the characteristics of the program. METHODS: Participants were 132 families, from a total of 739 contacted, whose children had been born in a maternity hospital in the interior of the state of

  19. Data Collection in Zooarchaeology: Incorporating Touch-Screen, Speech-Recognition, Barcodes, and GIS

    Directory of Open Access Journals (Sweden)

    W. Flint Dibble

    2015-12-01

    Full Text Available When recording observations on specimens, zooarchaeologists typically use a pen and paper or a keyboard. However, the use of awkward terms and identification codes when recording thousands of specimens makes such data entry prone to human transcription errors. Improving the quantity and quality of the zooarchaeological data we collect can lead to more robust results and new research avenues. This paper presents design tools for building a customized zooarchaeological database that leverages accessible and affordable 21st century technologies. Scholars interested in investing time in designing a custom-database in common software (here, Microsoft Access can take advantage of the affordable touch-screen, speech-recognition, and geographic information system (GIS technologies described here. The efficiency that these approaches offer a research project far exceeds the time commitment a scholar must invest to deploy them.

  20. The Long Quest for Neonatal Screening for SCID

    Science.gov (United States)

    Buckley, Rebecca H.

    2012-01-01

    Early recognition of SCID is a pediatric emergency, because a diagnosis before live vaccines or non-irradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T-cell-depleted haploidentical hematopoietic stem cell transplantation, enzyme replacement therapy or gene therapy. The need for newborn screening for this condition has been recognized for the past 15 years. However, implementation of screening required development of an assay for T cell lymphopenia that could be performed on dried blood spots routinely collected from newborn infants for the past 48 years. This was accomplished 6 years ago and there have already been 7 successful pilot studies. A recommendation to add SCID to the routine newborn screening panel was approved by the Secretary’s AdvisoryCommittee on Heritable Disorders of Newborns and Children in 2010 and was soon after approved by the Secretary of Health and Human Services. It is important for allergists, immunologists and other health care providers to take an active role in promoting newborn screening for SCID and other T lymphocyte abnormalities in their states. Even more important will be their roles in establishing accurate diagnoses for screen positive infants and in ensuring that they are given the best possible treatment. PMID:22277203

  1. The long quest for neonatal screening for severe combined immunodeficiency.

    Science.gov (United States)

    Buckley, Rebecca H

    2012-03-01

    Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T cell-depleted haploidentical hematopoietic stem cell transplantation, enzyme replacement therapy, or gene therapy. The need for newborn screening for this condition has been recognized for the past 15 years. However, implementation of screening required development of an assay for T-cell lymphopenia that could be performed on dried bloodspots routinely collected from newborn infants for the past 48 years. This was accomplished 6 years ago, and there have already been 7 successful pilot studies. A recommendation to add SCID to the routine newborn-screening panel was approved by the Secretary's Advisory Committee on Heritable Disorders of Newborns and Children in 2010 and was soon after approved by the Secretary of Health and Human Services. It is important for allergists, immunologists, and other health care providers to take an active role in promoting newborn screening for SCID and other T-lymphocyte abnormalities in their states. Even more important will be their roles in establishing accurate diagnoses for infants with positive screen results and in ensuring that they are given the best possible treatment.

  2. 婴儿抚触对缓解新生儿足跟采血所致疼痛的效果观察%The effect observation of infantile touching to relieve pain daring collection of heel blood of newborn

    Institute of Scientific and Technical Information of China (English)

    黄凌雁; 张伟青; 彭晓云; 王名英; 廖桂凤; 陈秀云

    2010-01-01

    Objective To explore the effect of infantile touching to relieve pain during collection of heel blood of newborns. Methods A total of 200 newborns were randomly divided into 2 groups during collection of heel blood. The interference group were given touching and propitiatory talk during collection of heel blood (n = 100), and the control group were given routine heel blood collection (n = 100). The pain degree was evaluated respectively during heel blood collection among the 2 groups. Results The pain degree of interference group and control group were (2.29 ±0.34) and (2.73±0.61) respectively, and there was significant difference of pain degree between the two groups (P <0. 01). Conclusions The pain of newborn is very common in the medical operating. The appropriate touching can relieve pain during collect heel blood of newborns.%目的 探讨抚触对缓解新生儿足跟毛细血管采血疼痛的效果.方法 将行足跟毛细血管采血的200例新生儿随机分为干预组(n=100)及对照组(n=100),干预组在进行足跟采血前后均给予实施抚触和安抚性的语言;对照组行常规足跟采血.采血时分别对2组新生儿疼痛的行为表现进行评估.结果 干预组与对照组采血时疼痛评分分别为(2.29±0.34)和(2.73 ±0.61),2组差异有统计学意义(P<0.01).结论 新生儿疼痛在医疗操作中常见,足跟采血时给予适宜的抚触可减轻其操作时所致的疼痛.

  3. A Sensor-Enabled Smartphone Application to Collect Eating Behavior Data for Population Screening.

    Science.gov (United States)

    Maramis, Christos; Moulos, Ioannis; Ioakeimidis, Ioannis; Nolstam, Jenny; Lekka, Irini; Bergh, Cecilia; Maglaveras, Nicos

    2016-01-01

    The worldwide extent of obesity and eating disorders (ED) today highlights the necessity for efficient treatment, but also early prevention of eating-related diseases. A promising category of therapeutic and preventive interventions comes from the domain of behavioral informatics (BI), whose purpose is to monitor and modify harmful behaviors - unhealthy eating in the particular case - with the help of information and communication technologies. Smartphones have already shown great promise in delivering such BI interventions in the field of obesity and ED. In fact, plenty of smartphone applications aiming to monitor and support the change of eating behavior with the help of built-in or external sensors have been proposed in the scientific literature. However, to the best of our knowledge, no smartphone application up to date has been designed to collect eating behavior data for the purpose of population screening against obesity or ED. In this work we describe a novel, sensor-enabled smartphone application that captures in-meal behavioral data from multiple subjects in a brief data collection process, with the end goal of recording, in detail, the user's eating style throughout a cooked meal. These data can later be employed for assessing the subjects' risk for obesity or ED. The proposed application has undergone preliminary evaluation with respect to its usability and technical soundness, yielding promising results.

  4. Effects of music therapy and massage on the quality of newborn hearing screening%音乐治疗后辅以抚触疗法对新生儿听力筛查质量的影响*

    Institute of Scientific and Technical Information of China (English)

    陈巧玲; 魏永新; 崔丽霞

    2016-01-01

    目的:探讨音乐治疗后辅以抚触疗法对新生儿听力筛查质量的影响。方法选择120例新生儿,按听力筛查顺序进行编号,单号设为对照组,双号设为实验组,每组各60例。两组新生儿在进行听力筛查前均实施音乐疗法,实验组新生儿在筛查听力时实施抚触疗法,对照组不进行抚触疗法。观察两组新生儿听力测试状态和了解听力筛查成功率。结果实验组新生儿听力测试状态优良率及筛查成功率均较对照组高,两组比较,差异均有统计学意义(P <0.05)。结论在新生儿听力筛查前实施音乐疗法和在筛查时实施抚触疗法,可提高其听力筛查的质量。%Objective To explore the effects of music therapy and massage on the quality of newborn hearing screening. Methods One hundred and twenty neonates were equally divided according to their registration number: those with even numbers in the experiment group and those with odd number in the control one. Both groups were treated with music therapy. In the experiment group, massage was added by specially trained nurses on the basis of music therapy. The two groups were compared in terms of neonatal hearing test and screening results. Result In the experiment group, the excellence rate of neonatal hearing test and the success rate of screening were significantly higher than those of the control group ( P<0 . 05 ) . Conclusion The music therapy and massage in the neonatal hearing screening can improve the quality of newborn hearing screening.

  5. Análise da implantação de programa de triagem auditiva neonatal em um hospital universitário Newborn hearing screening program implantation analysis at a university hospital

    Directory of Open Access Journals (Sweden)

    Wilian Maduell de Mattos

    2009-04-01

    Full Text Available Aperda auditiva é mais prevalente que outros distúrbios já rastreados ao nascimento. Esforços têm sido feitos para identificação e tratamento precoces de perdas auditivas por meio de programas de triagem auditiva neonatal. OBJETIVO: Estudo prospectivo com objetivo caracterizar o processo de implantação do Programa de Triagem Auditiva Neonatal (PTAN num Hospital Universitário. Analisar a investigação diagnóstica de perda auditiva em recém-nascidos. Apresentar propostas para aprimoramento do PTAN. MATERIAIS E MÉTODOS: Foram estudados recém-nascidos (RNs submetidos à TAN por emissões otoacústicas transientes (EOAT, reflexo cócleo-palpebral (RCP e Potencial Evocado Auditivo de Tronco Encefálico (PEATE. RESULTADOS: Foram testadas 625 crianças. Na primeira etapa passaram 458 RNs e falharam 155. Retornaram na segunda etapa 122 RNs, sendo que 8 o fizeram por apresentar fator de alto risco para PA. Encaminhados para investigação diagnóstica 12 RNs (1,9%. Dos 5 que retornaram para PEATE, observou-se PA em dois RNs. CONCLUSÃO: O programa testou 81,7% dos candidatos. O índice de adesão ao programa foi 68,2%. Na primeira etapa falharam 26,7% dos RNs. A implantação do programa está em andamento e necessita constantemente de análise das dificuldades, visando solucioná-las a fim de tornar a Triagem Auditiva Neonatal Universal uma realidade.Hearing loss is more prevalent than other disorders found at birth. Efforts have been put up towards the early identification and treatment of hearing loss by means of neonatal hearing screening programs. AIM: prospective study with the goal of characterizing the process of implementing a Neonatal Auditory Screening Program (NASP at a University Hospital. To analyze hearing loss diagnostic investigations in newborns, and to present proposals for NASP improvement. MATERIALS AND METHODS: we studied newborns (NB submitted to Newborn Auditory Screening (NAS by transient evoked otoacoustic

  6. Newborn screening of inherited metabolic diseases by tandem mass spectrometry%串联质谱仪在新生儿遗传代谢病筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    Chun-li YU; 顾学范

    2006-01-01

    Application of TMS technology in newborn screening has resulted in major expansion of disorder panel for metabolic diseases in recent years. This automated, multiplex testing methodology detects multiple analytes from single analysis of one blood spot, which leads to detection of 30-35 disorders of amino acids, organic acids, and fatty acids metabolism. The early identification of persons affected with inborn errors of metabolism has led to unexpected discoveries related to the natural history of the disorder or options for therapy. This article summarized (1) the basic principles of this technology and methodology. (2) Current status of application of this methodology in the United States, European countries and in China. (3) The positive impacts on the public health and advances in medical genetics. Finally (4) Challenges, issues and possible solutions. The purpose of this article aimed at introducing new technology and exploring the possibilities of implementing into developing countries where medical genetics is not developed and foreseeing the possible problems and obstacles.

  7. First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17a-hydroxyprogesterone in blood spots

    NARCIS (Netherlands)

    Elvers LH; Loeber JG; Dhondt JL; Fukushi M; Hannon WH; Torresani T; Webster D; Hopital Saint Philibert, Lille,; Sapporo City Institute of Public Health,; Centers for Disease Control and Prevention,; Universitats Kinderklinik, zurich, Switzerland; National Testing Center, Auckland, New Zealand; LIS

    2005-01-01

    Many countries have a screening programme for newborns for congenital metabolic disorders. For this screening several components are measured in dried blood spots collected by a heel stick on filter paper. Most laboratories use commercially available reagent sets for the measurements. Manufacturers

  8. Universal newborn hearing screening: knowledge of pediatricians and neonatologists in the city of Jundiaí, São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Ana Carolina Moreno de Campos

    2014-10-01

    Full Text Available INTRODUCTION: Hearing loss has severe emotional, psychological, and social consequences. The early identification of hearing impairment is crucial. OBJECTIVE: To evaluate and quantify the knowledge of neonatologists, pediatricians, and residents in pediatrics regarding detection, risk factors, early diagnosis, and referral for rehabilitation of patients with neonatal hearing loss in Jundiaí, state of São Paulo, Brazil. METHODS: This was a cross-sectional contemporary cohort study including 47 physicians from three hospitals, including a questionnaire with 15 items. RESULTS: Most respondents (83% had received information about hearing loss in their medical courses, but most had no knowledge of techniques for hearing evaluation, and degrees and types of loss. All physicians agreed that in the first six months of life, it is possible to evaluate hearing function and that it is the physician's responsibility to assess the newborn. Regarding the age that the child can receive auditory rehabilitation, the end of the first year and the second year of life predominate. CONCLUSION: Most respondents know the risk factors for the detection of neonatal hearing impairment, know how to perform procedures, and recognize the importance of diagnosis of hearing loss and the need to refer suspected cases, but most do not know the techniques used to assess hearing in newborns.

  9. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

    Science.gov (United States)

    la Marca, Giancarlo; Malvagia, Sabrina; Pasquini, Elisabetta; Innocenti, Marzia; Donati, Maria Alice; Zammarchi, Enrico

    2007-07-01

    The expansion of newborn screening programs has increased the number of newborns diagnosed with inborn errors of metabolism in the presymptomatic phase, but it has also increased the number of costly, stress-producing false-positive results. Because propionylcarnitine (C3) is one of the analytes most frequently responsible for false-positive results, we aimed to develop a rapid liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to identify free methylmalonic (MMA) and 3-OH propionic (3OH-PA) acids in blood spots. We studied newborn screening spots from 250 healthy controls; 124 from infants with abnormal C3, of whom only 5 (4%) were truly affected; 124 from infants with altered isolated methylmalonylcarnitine; and 4 from clinically diagnosed patients. Whole blood was eluted from a 3.2-mm dried blood spot by a CH(3)CN/H(2)O 7:3 and 5 mL/L formic. This extract was injected into a LC-MS/MS equipped with pneumatically assisted electrospray without derivatization. Total analysis time was 5 min per sample. The assays were linear up to 3300 nmol/L for both metabolites. Intra- and interassay imprecision data were 3.6%-8% and 3.1%-6%, respectively, for MMA and 5.2%-20% and 3.6%-17% for 3OH-PA. Limit of detection and limit of quantitation were 1.95 and 4.2 micromol/L, respectively, for MMA and 8 and 10 micromol/L for 3OH-PA. The recoveries were 92.9%-106.1%. No deterioration was noted on the columns after 500 chromatographic runs. If the new method had been used as a 2nd-tier test for the 124 samples, only the 5 true positives would have been recalled for additional samples, and the positive predictive value would have been 100%. This method has the potential to markedly reduce false-positive results and the associated costs and anxiety. It may also be suitable for diagnosing and routinely monitoring blood spots for methylmalonic aciduria and propionic acidemia.

  10. Family knowledge on newborn care

    Directory of Open Access Journals (Sweden)

    Ana Leticia Monteiro Gomes

    2015-05-01

    Full Text Available Objective: analyzing the knowledge that families acquired on newborn care, before and after their participation in a mother-father-infant welcoming group. Methods: a quantitative and descriptive study that took place in a municipal health center, with 27 participants. Data were collected by a questionnaire applied before and after the educational activity, and was analyzed by comparing the answers of the items. Results: care actions properly modified were: the use of baby powder, soap, tea, objects in the navel, sun bathing time, correct hygiene of male genitalia, attention to child’s records and physiological eliminations. Conclusion: the families reported positive changes in newborn care through participation in health education activities, suggesting that the activity developed with caregivers can reduce risks to the health of newborn babies.

  11. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.

    Science.gov (United States)

    Puck, Jennifer M

    2012-03-01

    The most profound primary immunodeficiency disease, severe combined immunodeficiency (SCID), is fatal in infancy unless affected infants are provided with an adaptive immune system through allogeneic hematopoietic cell transplantation, enzyme replacement, or gene therapy. However, most infants with SCID lack a family history or any clinical clues before the onset of infections, making this serious but treatable disease a candidate for population-based newborn screening. Of several approaches considered for SCID screening, testing for T-cell receptor excision circles (TRECs), a DNA biomarker of normal T-cell development, has proved successful. TREC numbers can be measured in DNA isolated from the dried bloodspots already routinely collected for newborn screening. Infants with low or absent TRECs can thus be identified and referred for confirmatory testing and prompt intervention. TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs.

  12. Low blood sugar - newborns

    Science.gov (United States)

    ... medlineplus.gov/ency/article/007306.htm Low blood sugar - newborns To use the sharing features on this page, please enable JavaScript. A low blood sugar level in newborn babies is also called neonatal ...

  13. Sleep and Newborns

    Science.gov (United States)

    ... AAP introduced this recommendation in 1992. Use a firm sleep surface. Cover the mattress with a sheet ... Sleep and Your 1- to 2-Year-Old Communication and Your Newborn Medical Care and Your Newborn ...

  14. Feeding Your Newborn

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Feeding Your Newborn KidsHealth > For Parents > Feeding Your Newborn ... giving up the breast. previous continue About Formula Feeding Commercially prepared infant formula is a nutritious alternative ...

  15. Your Child's Development: Newborn

    Science.gov (United States)

    ... Child Too Busy? Helping Your Child Adjust to Preschool School Lunches Kids and Food: 10 Tips for Parents Healthy Habits for TV, Video Games, and the Internet Your Child's Development: Newborn KidsHealth > For Parents > Your Child's Development: Newborn ...

  16. A molecular epidemiologic study of thalassemia using newborns' cord blood in a multiracial Asian population in Singapore: results and recommendations for a population screening program.

    Science.gov (United States)

    Kham, S K; Yin, Shirley Kham Kow; Quah, Thuan Chong; Loong, Ai Mei; Tan, Poh Lin; Fraser, Angus; Chong, S S; Chuan, Samuel Chong Siong; Yeoh, A E; Eng-Juh, Allen Yeoh

    2004-12-01

    DNA technology provides a new avenue to perform neonatal screening tests for single-gene diseases in populations of high frequency. Thalassemia is one of the high-frequency single-gene disorders affecting Singapore and many countries in the malaria belt. The authors explored the feasibility of using PCR-based diagnostic screening on 1,116 unselected sequential cord blood samples for neonatal screening. The cord blood samples were screened for the most common reported alpha- and beta-thalassemia mutations in each ethnic group (Chinese, Malays, and Indians) in a multiracial population. The carrier frequency for alpha-thalassemia mutations was about 6.4% in the Chinese (alpha deletions = 3.9%, alpha deletions = 2.5%), 4.8% in Malays, and 5.2% in Indians. Only alpha deletions were observed in the Chinese. The carrier frequency for beta-thalassemia mutations was 2.7% in the Chinese, 6.3% in Malays, and 0.7% in Indians. Extrapolating to the population distribution of Singapore, the authors found a higher overall expected carrier frequency for alpha- and beta-thalassemia mutations of 9% compared with a previous population study of 6% by phenotype. The highly accurate results make this molecular epidemiologic screening an ideal method to screen for and prevent severe thalassemia in high-risk populations.

  17. 重症监护病房与母婴同室新生儿听力筛查比较%Comparative study of newborn hearing screening between the neonatal intensive care unit and well-baby nursery

    Institute of Scientific and Technical Information of China (English)

    张恩东; 李大建; 苗乐杰

    2011-01-01

    Objective To investigate the hearing screening situation of newborns in the neonatal intensive care unit (NICU) and compare it with that of newborns in the well-baby nursery.Methods Hearing screening was carded out in 927 newborns in the NICU and 16 353 newborns in the well-baby nursery.All newborns were screened and rescreened with transient evoked otoacoustic emission.Positive cases were evaluated by a diagnostic audiology test.Results 28 cases of sensorineural deafness were founded in the NICU group, of which 11 had hyperbilirubinemias, 9 very low birth weight, 6 ischemic encephalopathy and 2 meningitis.The incidence rate of sensorineural deafness in the NICU group was 3.02% (28/927).There were 50 cases of sensorineural deafness in the well-baby nursery group, of which 23 had intrauterine infection, 12 hyperbilimbinemias, 10 family history of hearing loss, 3 meningitis and 2 ototoxic drug contact history.The incidence rate of sensorineural deafness was 0.31% (50/16 353).There was a significant difference between the two groups ( P < 0.05 ).Conclusions The incidence rate of sensorineural deafness is obviously higher in the NICU group than the well-baby nursery group.Hyperbilirubinemias, very low birth weight and ischemic encephalopathy are the main risk factors in the NICU group.Intrauterine infection, hyperbilirubinemias and family history of hearing loss are the main risk factors in the well-baby nursery group.More attention should be paid to newborn hearing screening in the NICU.%目的 探讨新生几重症监护病房患儿听力筛查情况并与母婴同室新生儿听力筛查情况进行比较.方法 对927例新生儿重症监护病房患儿和16353例母婴同室新生儿采用瞬态诱发耳声发射进行初筛和复筛,并对筛查阳性者进行诊断性听力学检测.结果 927例新生儿重症监护病房患儿中,通过筛查发现感音神经性听力障碍28例.其中高胆红素血症11例,极低体重儿9例,缺血缺氧性脑病6

  18. Quality assurance for screening mammography data collection systems in 22 countries.

    NARCIS (Netherlands)

    Klabunde, C.N.; Sancho-Garnier, H.; Broeders, M.E.A.C.; Thoresen, S.; Rodrigues, V.J.; Ballard-Barbash, R.

    2001-01-01

    OBJECTIVES: To document the mammography data that are gathered by the organized screening programs participating in the International Breast Cancer Screening Network (IBSN), the nature of their procedures for data quality assurance, and the measures used to assess program performance and impact. MET

  19. Trials with portable screen rooms modified for use as animal-baited net traps for mosquito collection.

    Science.gov (United States)

    Wilton, D P; Darsie, R F; Story, R

    1985-06-01

    Trials in Larimer County, Colorado during July and August 1984, with recreational screen rooms modified as large animal-baited mosquito traps are described. The two units tested are free-standing, portable and require no external support. In all-night trials, 462.5 mosquitoes/trap night were captured with horse bait compared with 367/trap night with CDC light traps. In 2-hour evening comparisons, mosquitoes collected per trapping period totalled 416 for horse-bait traps, 132 for light traps, and 93 for human-bait traps. Animal-baited screen rooms offer an alternative to existing methods for mosquito surveillance.

  20. Recommendations of the NIDCD Working Group on Early Identification of Hearing Impairment on Acceptable Protocols for Use in State-Wide Universal Newborn Hearing Screening Programs.

    Science.gov (United States)

    National Inst. on Deafness and Other Communications Disorders, Bethesda, MD.

    This document presents the consensus statement of a 2-day conference which addressed issues concerned with the early identification of hearing impairment. The conference resulted in the following consensus conclusions: (1) all infants admitted to the neonatal intensive care unit should be screened for hearing loss prior to discharge; (2) universal…

  1. Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program Fenilcetonúria, hipotireoidismo congênito e hemoglobinopatias: questões de saúde pública para um programa de triagem neonatal brasileiro

    Directory of Open Access Journals (Sweden)

    Judy Botler

    2012-09-01

    Full Text Available In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil Newborn Screening Program (NBSP was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007 was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427 and B (1:16,522 might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively. This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.Neste estudo, foi analisada a frequência de detecção do hipotireoidismo congênito, fenilcetonúria e hemoglobinopatias no Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, entre 2005 e 2007. Havia dois Serviços de Referência em Triagem Neonatal (designados SRTN A e B com diferenças programáticas. Em 2007, a cobertura alcançou 80,7%. O aumento na incidência do hipotireoidismo congênito (1:1.030 em 2007 foi atribuído à redução no valor de corte do TSH ao longo do tempo. As incidências discrepantes da fenilcetonúria entre os modelos (SRTN A - 1:28.427; SR-TN B - 1:16.522 podem ser parcialmente explicadas pelo pequeno número de casos. A incidência da doença falciforme e do traço falcêmico foi uniformemente elevada (1:1.288 e 1:21, respectivamente, sendo coerente com a composição étnica da população. As diferenças nos m

  2. Touch screen computer-assisted health-related quality of life and distress data collection in head and neck cancer patients.

    Science.gov (United States)

    de Bree, R; Verdonck-de Leeuw, I M; Keizer, A L; Houffelaar, A; Leemans, C R

    2008-04-01

    Touch screen computer-assisted health-related quality of life data collection in head and neck cancer patients is feasible. Touch screen computer-assisted health-related quality of life data collection can be used for scientific documentation as well as in clinical setting. Patients are willing to complete the questionnaire on a touch-screen and find the equipment easy to use. Compliance needs improvement by instructing clinicians and nurses and a better alert system.

  3. Improvement of light collection efficiency of lens-coupled YAG screen TV system for a high-voltage electron microscope.

    Science.gov (United States)

    Yamamoto, K; Tanji, T; Hibino, M; Schauer, P; Autrata, R

    2000-06-15

    A new lens coupling television (TV) system using a YAG (Yttrium Aluminum Garnet: Y(3)Al(5)O(12) : Ce(3+)) single crystal screen has been developed for a high-voltage electron microscope (HVEM), and its performance is examined. The system, using a combination of YAG and lenses, is less damaged by high-energy electron irradiation and reduces the influence of X-rays on the image. YAG screens have not been used for lens-coupling systems, because the high refractive index (n = 1.84) of YAG results in a low light collection efficiency for emitted light. This disadvantage is overcome by combining a thin YAG disk screen (thickness; 100 microm) with a glass hemisphere whose refractive index is 1.81. We found that the light intensity is almost the same as that obtained with a conventional P22 powder screen and lenses system. The resolution is about 55 microm on the YAG screen, and this value is 1.3 times higher than that measured by the conventional system. Shading and distortion do not affect TV observation. Detection quantum efficiency, obtained after correction of the channel mixing effect, is about 0.1.

  4. Flue gas conditioning for improved particle collection in electrostatic precipitators. First topical report, Results of laboratory screening of additives

    Energy Technology Data Exchange (ETDEWEB)

    Durham, M.D.

    1993-04-16

    Several tasks have been completed in a program to evaluate additives to improve fine particle collection in electrostatic precipitators. Screening tests and laboratory evaluations of additives are summarized in this report. Over 20 additives were evaluated; four were found to improve flyash precipitation rates. The Insitec particle analyzer was also evaluated; test results show that the analyzer will provide accurate sizing and counting information for particles in the size range of {le} 10 {mu}m dia.

  5. Conjunctivitis in the newborn- A comparative study

    Directory of Open Access Journals (Sweden)

    Meenakshi Wadhwani

    2011-01-01

    Full Text Available Background: Conjunctivitis of the newborn is defined as hyperemia and eye discharge in the neonates and is a common infection occurring in the neonates in the first month of life. In the United States, the incidence of neonatal conjunctivitis ranges from 1-2%, in India, the prevalence is 0.5-33% and varies in the world from 0.9-21% depending on the socioeconomic status. Aim: To study the organisms causing conjunctivitis of the newborn and to correlate the etiology with the mode of delivery. Design: Single center, prospective, observational study. Materials and Methods: A total of 300 mothers and their newborns, born over a period of one year, were included in the study. Of these 200 newborns were delivered through vaginal route (Group A and 100 (Group B delivered by lower segment caesarean section (LSCS. At the time of labour, high vaginal swabs were taken from the mothers. Two conjunctival swabs each from both eyes of the newborn were collected at birth and transported to Microbiology department in a candle jar immediately. Results: Eight babies in Group A, developed conjunctivitis at birth. None of the babies in Group B developed conjunctivitis, this difference was statistically highly significant (P<0.000. The organisms found in the conjunctiva of the newborns in Group A were Coagulase negative Staphylococcus, α hemolytic Streptococcus, Escherichia coli and Pseudomonas spps. However, the commonest organism leading to conjunctivitis in the newborn in this study was Coagulase negative Staphylococcus. It was observed that the mothers of 5 out of 8 babies (60% developing conjunctivitis gave history of midwife interference and premature rupture of membranes so the presence of risk factors contribute to the occurrence of conjunctivitis in the newborn. Conclusions: It is inferred that the mode of delivery and the presence of risk factors is responsible for conjunctivitis in the newborn.

  6. 75 FR 57038 - Proposed Collection; Comment Request; Recruitment and Screening for the Insight Into...

    Science.gov (United States)

    2010-09-17

    .... There are no Operating or Maintenance Costs to report. Number of Frequency of Average time Annual hour.... Type of Information Collection Request: NEW. Need and Use of Information Collection: The purpose of the..., hearing, sensory proprioception, neuropathy and balance; and movement and strength of the upper and lower...

  7. Communication and Your Newborn

    Science.gov (United States)

    ... Habits for TV, Video Games, and the Internet Communication and Your Newborn KidsHealth > For Parents > Communication and Your Newborn Print A A A What's ... first smile — a welcome addition to your baby's communication skills! continue What Should I Do? As soon ...

  8. Communication and Your Newborn

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Communication and Your Newborn KidsHealth > For Parents > Communication and Your Newborn A A A What's in ... first smile — a welcome addition to your baby's communication skills! continue What Should I Do? As soon ...

  9. A Mobile Health Data Collection System for Remote Areas to Monitor Women Participating in a Cervical Cancer Screening Campaign.

    Science.gov (United States)

    Quercia, Kelly; Tran, Phuong Lien; Jinoro, Jéromine; Herniainasolo, Joséa Lea; Viviano, Manuela; Vassilakos, Pierre; Benski, Caroline; Petignat, Patrick

    2017-08-28

    Barriers to efficient cervical cancer screening in low- and medium-income countries include the lack of systematic monitoring of the participants' data. The aim of this study was to assess the feasibility of a mobile health (m-Health) data collection system to facilitate monitoring of women participating to cervical cancer screening campaign. Women aged 30-65 years, participating in a cervical cancer screening campaign in Ambanja, Madagascar, were invited to participate in the study. Cervical Cancer Prevention System, an m-Health application, allows the registration of clinical data, while women are undergoing cervical cancer screening. All data registered in the smartphone were transmitted onto a secure, Web-based platform through the use of an Internet connection. Healthcare providers had access to the central database and could use it for the follow-up visits. Quality of data was assessed by computing the percentage of key data missing. A total of 151 women were recruited in the study. Mean age of participants was 41.8 years. The percentage of missing data for the key variables was less than 0.02%, corresponding to one woman's medical history data, which was not sent to the central database. Technical problems, including transmission of photos, human papillomavirus test results, and pelvic examination data, have subsequently been solved through a system update. The quality of the data was satisfactory and allowed monitoring of cervical cancer screening data of participants. Larger studies evaluating the efficacy of the system for the women's follow-up are needed in order to confirm its efficiency on a long-term scale.

  10. 母婴皮肤接触对减轻足月新生儿足跟采血时疼痛的作用%Effect of skin - to - skin contact relieving pain during heel blood collection in the newborn

    Institute of Scientific and Technical Information of China (English)

    刘敏; 赵丽; 李雪芬

    2011-01-01

    目的 探讨母婴皮肤接触对减轻足月新生儿足跟采血时疼痛的作用.方法 将40例足月新生儿分为两组,干预组足跟采血前20 min母亲与新生儿实施袋鼠式护理,整个采血过程及采血恢复期持续皮肤接触;对照组在常规下进行足跟血采集.比较两组新生儿在心率、血氧饱和度、面部疼痛表情持续时间及啼哭时间等方面的差异.结果 从穿刺开始后10秒至结束后10秒7个时间段中,两组新生儿心率均有不同程度的改变,在足跟采血时间因素、交互作用和分组因素上有统计学意义(P<0.01);两组新生儿血氧饱和度之间存在统计学差异(P<0.05);两组新生儿疼痛表情持续时间、啼哭持续时间和新生儿急性疼痛行为评分量表得分差异均具有统计学意义(P<0.01).结论 母婴皮肤接触降低新生儿足跟采血时的疼痛感;减少新生儿足跟采血时心率变化;提高新生儿足跟采血时血氧饱和度.%Objective To evaluate the effect of skin - to - skin contact relieving pain during heel blood collection in the newborn. Methods A total of 40 newborns were recruited and divided into the experimental group and the control group. Kangaro care was implemented in the 20 minutes before heel blood collection in the experimental group,and skin contact were continued during blood collection and recovery process. Routine blood collection method was employed in the control group. The difference of heart rate,oxygen saturation,duration of facial expressions of pain and crying time were compared between the two groups. Results The two groups had different change in heart rates and the main effect of time, group and interaction between time and group during the 7 time periods from 10 seconds after the beginning of puncture to 10 seconds after puncture were statistically significant (P <0. 01 ) . The difference of the oxygen saturation between the two groups of newborn was statistically

  11. Hipotireoidismo congênito: perfil clínico dos recém-nascidos identificados pelo Programa de Triagem Neonatal de Minas Gerais Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil

    Directory of Open Access Journals (Sweden)

    Isabela L. Pezzuti

    2009-02-01

    Full Text Available OBJETIVO: Avaliar o perfil clínico de recém-nascidos com hipotireoidismo congênito identificados pelo Programa Estadual de Triagem Neonatal de Minas Gerais entre 2000 e 2006. MÉTODOS: A frequência das manifestações clínicas de hipotireoidismo congênito foi analisada em relação aos níveis de hormônio estimulante da tireoide T4L (determinados por quimioluminescência, valores de referência de 0,3 a 5,0 µUI/mL e 0,8 a 1,8 ng/dL, respectivamente e idades ao diagnóstico e tratamento. Estudou-se 443 crianças, sendo 55,8% do sexo feminino e 95% delas com menos 60 dias de vida. RESULTADOS: Os sinais clínicos mais prevalentes foram: hérnia umbilical (51%, fontanela anterior ampla (50,3% e fontanela posterior aberta (47,2%. Hipotonia, macroglossia e sucção débil foram os sinais mais associados com a gravidade bioquímica da doença. Em 32,1% das crianças houve atraso na idade óssea ao diagnóstico. As medianas de TSH e T4L séricos foram 120 µUI/mL e 0,62 ng/dL, respectivamente. A mediana da idade de início de tratamento foi de 28 dias. CONCLUSÃO: Existem sinais clínicos precoces que sugerem o diagnóstico de hipotireoidismo congênito. Portanto, diante de uma criança com esses sinais, devem ser avaliados TSH e T4L séricos para confirmar ou excluir a doença, independentemente do resultado do teste de triagem. A idade de início de tratamento ainda foi elevada, mas o programa vem adotando estratégias para redução da mesma.OBJECTIVE: To evaluate the clinical profile of newborns with congenital hypothyroidism identified by the Newborn Screening Program of the State of Minas Gerais, Brazil, between 2000 and 2006. METHODS: Analysis of factors involved in this profile, including: TSH and FT4 levels (determined by chemiluminescence, with limits of normality set at 0.3-5.0 µUI/mL and 0.8-1.8 ng/dL, respectively, age at diagnosis and age at treatment. The study sample consisted of 443 children, 55.8% were female and 95% were seen

  12. Collection of sequential imaging events for research in breast cancer screening

    Science.gov (United States)

    Patel, M. N.; Young, K.; Halling-Brown, M. D.

    2016-03-01

    Due to the huge amount of research involving medical images, there is a widely accepted need for comprehensive collections of medical images to be made available for research. This demand led to the design and implementation of a flexible image repository, which retrospectively collects images and data from multiple sites throughout the UK. The OPTIMAM Medical Image Database (OMI-DB) was created to provide a centralized, fully annotated dataset for research. The database contains both processed and unprocessed images, associated data, annotations and expert-determined ground truths. Collection has been ongoing for over three years, providing the opportunity to collect sequential imaging events. Extensive alterations to the identification, collection, processing and storage arms of the system have been undertaken to support the introduction of sequential events, including interval cancers. These updates to the collection systems allow the acquisition of many more images, but more importantly, allow one to build on the existing high-dimensional data stored in the OMI-DB. A research dataset of this scale, which includes original normal and subsequent malignant cases along with expert derived and clinical annotations, is currently unique. These data provide a powerful resource for future research and has initiated new research projects, amongst which, is the quantification of normal cases by applying a large number of quantitative imaging features, with a priori knowledge that eventually these cases develop a malignancy. This paper describes, extensions to the OMI-DB collection systems and tools and discusses the prospective applications of having such a rich dataset for future research applications.

  13. [Neonatal hearing screening program and school education for deaf children in Switzerland].

    Science.gov (United States)

    Cao-Nguyen, M-H; Guyot, J-P

    2009-09-30

    A national hearing screening in newborns was introduced in Switzerland in the early 2000s. Since then, the number of maternities which applies has considerably increased. Test results are collected in a national database, giving a good overview of the quality of screening and incidence of deafness in Switzerland. The diagnosis and rehabilitation of deafness is earlier than before. This, combined to modem technologies allows mainstream integration of almost every deaf child.

  14. Hemothorax in the newborn

    Energy Technology Data Exchange (ETDEWEB)

    Oppermann, H.C.; Wille, L.

    1980-04-01

    Twenty cases of hemothorax in newborns are reviewed in detail. This unusual cause of acute respiratory distress within the neonatal period was observed in 14 males and 6 females. Most of the patients were fullterm newborns. As causal factors hemorrhagic disease of the newborn (vitamin K deficiency), disseminated intravascular coagulation, arteriovenous malformations and pleural/vascular rupture are considered. The time of occurrence of bleeding symptoms ranged from 1 to 28 days of life. Sixteen out of 20 patients survived without sequelae, but in 4 cases the outcome was lethal.

  15. From Hahnemann's hand to your computer screen: building a digital homeopathy collection.

    Science.gov (United States)

    Mix, Lisa A; Cameron, Kathleen

    2011-01-01

    The University of California, San Francisco (UCSF), Library holds the unique manuscript of the sixth edition of Samuel Hahnemann's Organon der Heilkunst, the primary text of homeopathy. The manuscript volume is Hahnemann's own copy of the fifth edition of the Organon with his notes for the sixth edition, handwritten throughout the volume. There is a high level of interest in the Organon manuscript, particularly among homeopaths. This led to the decision to present a digital surrogate on the web to make it accessible to a wider audience. Digitizing Hahnemann's manuscript and determining the best method of presentation on the web posed several challenges. Lessons learned in the course of this project will inform future digital projects. This article discusses the historical significance of the sixth edition of Hahnemann's Organon, its context in UCSF's homeopathy collections, and the specifics of developing the online homeopathy collection.

  16. Jaundice in Healthy Newborns

    Science.gov (United States)

    ... Development Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & ... common condition in newborns, refers to the yellow color of the skin and whites of the eyes ...

  17. Common Conditions in Newborns

    Science.gov (United States)

    ... Stages Listen Español Text Size Email Print Share Common Conditions in Newborns Page Content Article Body Some physical conditions are especially common during the first couple of weeks after birth. ...

  18. Screening of the entire USDA castor germplasm collection for oil content and fatty acid composition for optimum biodiesel production.

    Science.gov (United States)

    Wang, Ming Li; Morris, J Bradley; Tonnis, Brandon; Pinnow, David; Davis, Jerry; Raymer, Paul; Pederson, Gary A

    2011-09-14

    Castor has tremendous potential as a feedstock for biodiesel production. The oil content and fatty acid composition in castor seed are important factors determining the price for production and affecting the key fuel properties of biodiesel. There are 1033 available castor accessions collected or donated from 48 countries worldwide in the USDA germplasm collection. The entire castor collection was screened for oil content and fatty acid composition by nuclear magnetic resonance (NMR) and gas chromatography (GC), respectively. Castor seeds on the average contain 48.2% oil with significant variability ranging from 37.2 to 60.6%. Methyl esters were prepared from castor seed by alkaline transmethylation. GC analysis of methyl esters confirmed that castor oil was composed primarily of eight fatty acids: 1.48% palmitic (C16:0), 1.58% stearic (C18:0), 4.41% oleic (C18:1), 6.42% linoleic (C18:2), 0.68% linolenic (C18:3), 0.45% gadoleic (C20:1), 84.51% ricinoleic (C18:1-1OH), and 0.47% dihydroxystearic (C18:0-2OH) acids. Significant variability in fatty acid composition was detected among castor accessions. Ricinoleic acid (RA) was positively correlated with dihydroxystearic acid (DHSA) but highly negatively correlated with the five other fatty acids except linolenic acid. The results for oil content and fatty acid composition obtained from this study will be useful for end-users to explore castor germplasm for biodiesel production.

  19. An Analysis of the Deafness-related Gene Screening Results of 15343 Newborns%15343例新生儿耳聋基因普遍筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    周怡; 刘海红; 郝津生; 张亚梅; 张杰; 徐放; 申阿东

    2014-01-01

    目的:探讨新生儿耳聋基因普遍筛查的意义,对携带耳聋基因儿童的家长提出预警并指导其进行听力学随诊和生活防护。方法用9项遗传性耳聋基因检测试剂盒(微阵列芯片法)对15343例新生儿进行4个常见耳聋相关基因9个突变位点的检测,包括GJB2(35delG、176del16、235delC、299_300delAT)、SLC26A4(IVS7-2A>G、2168A>G)、线粒体DNA 12S rRNA(1555A>G、1494C>T)、GJB3(538C>T),对阳性结果的家长进行电话或门诊咨询,给予相关指导。结果15343例新生儿检测出单基因单杂合突变545例,分别为GJB2基因杂合突变277例,携带率为1.8%;SLC26A4基因杂合突变188例,携带率为1.2%;线粒体12S rRNA基因均质或异质突变46例,携带率为0.3%;GJB3基因杂合突变34例,携带率为0.2%;9个热点突变单杂合突变阳性率为3.6%。另有单基因复合杂合突变2例和双杂合突变6例。结论新生儿耳聋基因普遍筛查对听障患儿的早期发现、早期诊断和早期干预具有重要意义。%Objective To explore the significance of deafness-related newborn gene screening and to provide ear and hearing care guidance to parents. Methods 15,343 neonates received the screening of 9 mutation sites of 4 deafness-related genes, including GJB2 (35delG, 176del16,235delC, 299_300delAT), SLC26A4 (IVS7-2A>G, 2168A>G), mitochondrial DNA12S rRNA (1494C>T,1555A>G,) and GJB3 (538C>T), respectively. Results The numbers of neonates who carried heterozygous mutations in GJB2, SLC26A4, and GJB3 were 277, 188, and 34 and the corresponding carrier rates were 1.8%,1.2% and 0.2%, respectively. The number of neonates who carried homogeneous or heterogeneous mutation in mitochondrial 12S rRNA gene was 46 with a carrier rate of 0.3%. In all, 545 cases were found to carry deafness-related gene mutation with a carrier rate of 3.6%. 2 cases were found to carry compound heterozygous mutations and 6 cases were

  20. Capture and exploration of sample quality data to inform and improve the management of a screening collection.

    Science.gov (United States)

    Charles, Isabel; Sinclair, Ian; Addison, Daniel H

    2014-04-01

    A new approach to the storage, processing, and interrogation of the quality data for screening samples has improved analytical throughput and confidence and enhanced the opportunities for learning from the accumulating records. The approach has entailed the design, development, and implementation of a database-oriented system, capturing information from the liquid chromatography-mass spectrometry capabilities used for assessing the integrity of samples in AstraZeneca's screening collection. A Web application has been developed to enable the visualization and interactive annotation of the analytical data, monitor the current sample queue, and report the throughput rate. Sample purity and identity are certified automatically on the chromatographic peaks of interest if predetermined thresholds are reached on key parameters. Using information extracted in parallel from the compound registration and container inventory databases, the chromatographic and spectroscopic profiles for each vessel are linked to the sample structures and storage histories. A search engine facilitates the direct comparison of results for multiple vessels of the same or similar compounds, for single vessels analyzed at different time points, or for vessels related by their origin or process flow. Access to this network of information has provided a deeper understanding of the multiple factors contributing to sample quality assurance.

  1. Newborn Screening Tests for your Baby

    Science.gov (United States)

    ... checkup , staying at a healthy weight and avoiding alcohol and street drugs . Featured articles March of Dimes ... change fat into energy. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Very long-chain acyl-CoA dehydrogenase ...

  2. Newborn Screening: MedlinePlus Health Topic

    Science.gov (United States)

    ... National Library of Medicine) Article: Use of a Smartphone App to Assess Neonatal Jaundice. Article: Fragile X ... See our disclaimer about external links and our quality guidelines . About MedlinePlus Site Map FAQs Customer Support ...

  3. Newborn Screening - Multiple Languages: MedlinePlus

    Science.gov (United States)

    ... Hearing Test for Your Baby Kontrola sluha vaše bebe - Bosanski (Bosnian) Bilingual PDF Health Information Translations Chinese - ... Test for Your Baby Test ďaudition pour votre bébé - français (French) Bilingual PDF Health Information Translations Hindi ( ...

  4. Maternal anti-M induced hemolytic disease of newborn followed by prolonged anemia in newborn twins

    Directory of Open Access Journals (Sweden)

    Satyam Arora

    2015-01-01

    Full Text Available Allo-anti-M often has an immunoglobulin G (IgG component but is rarely clinically significant. We report a case of hemolytic disease of the fetus and newborn along with prolonged anemia in newborn twins that persisted for up to 70 days postbirth. The aim was to diagnose and successfully manage hemolytic disease of newborn (HDN due to maternal alloimmunization. Direct antiglobulin test (DAT, antigen typing, irregular antibody screening and identification were done by polyspecific antihuman globulin cards and standard tube method. At presentation, the newborn twins (T1, T2 had HDN with resultant low reticulocyte count and prolonged anemia, which continued for up to 70 days of life. Blood group of the twins and the mother was O RhD positive. DAT of the both newborns at birth was negative. Anti-M was detected in mothers as well as newborns. Type of antibody in mother was IgG and IgM type whereas in twins it was IgG type only. M antigen negative blood was transfused thrice to twin-1 and twice to twin-2. Recurring reduction of the hematocrit along with low reticulocyte count and normal other cell line indicated a pure red cell aplastic state. Anti-M is capable of causing HDN as well as prolonged anemia (red cell aplasia due to its ability to destroy the erythroid precursor cells. Newborns with anemia should be evaluated for all the possible causes to establish a diagnosis and its efficient management. Mother should be closely monitored for future pregnancies as well.

  5. Learning, Play, and Your Newborn

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Learning, Play, and Your Newborn KidsHealth > For Parents > Learning, ... juega su recién nacido What Is My Newborn Learning? Play is the chief way that infants learn ...

  6. [Perinatal factors affecting the detection of otoacoustic emissions in vaginally delivered, healthy newborns, during the first 48 hours of life].

    Science.gov (United States)

    Sequi-Canet, José M; Sala-Langa, María J; Collar Del Castillo, José I

    2014-01-01

    Most hospitals perform neonatal hearing screening because it is a very useful procedure. Otoacoustic emissions are an ideal technique for this screening. We analyse the possible influence on screening results of some perinatal factors. We collected retrospective data from 8,239 healthy newborns delivered vaginally at the maternity ward of our hospital. We compared multiple perinatal factors vs the results of otoacoustic emissions performed within the first 48 h of life, before discharge. A total of 6.4% of newborns had an abnormal response and failed the screening. Univariate and multivariate analysis showed a significant (P<.0001) positive relationship between breastfeeding and normal otoacoustic emissions (OR: 0.65). Another, less significant factor was female gender. The remaining variables, including origin, education or employment status of the mother, maternal smoking, dystocic delivery, presentation, need for resuscitation, preterm labour (34-36 weeks), weight, length and frequent maternal pathology, such as streptococcus detection, hypothyroidism, hypertension or diabetes, were not significant. Breastfeeding was the most important factor related to a normal response in otoacoustic emissions. It may improve final results and reduce the number of neonates who need to be rescheduled for a repeated test, as well as the associated anxiety and the possibility of losing patients during follow-up. These are major problems in neonatal hearing screening. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  7. The application of nutritional risk and developmental dysplasia screening tool in hospitalized newborns%营养风险及发育不良筛查工具在住院新生儿营养风险筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    李衡; 孙娟; 王正新; 祝启花; 董梅花; 解红文

    2016-01-01

    目的:选择合适的营养风险筛查工具对新生儿进行营养风险评估。方法使用营养风险及发育不良筛查工具STRONGkid对98例住院新生儿进行营养风险筛查,并通过 Fenton 2013生长曲线图从身长、体质量及头围等方面进行对比监测,评估新生儿的营养状况。结果总的营养风险检出率为67.3%(66/98),早产新生儿营养高风险的发生率较足月新生儿高( P<0.05);总的营养不良检出率为52.0%(51/98),早产新生儿出营养不良的概率高于足月新生儿( P<0.05)。营养风险检出率越高,则营养不良检出率也越高。结论营养风险及发育不良筛查工具STRONGkid的筛查结果可以为早期存在营养不良风险的新生儿进行营养干预提供参考。%Objective To select the appropriate nutritional risk screening tool to evaluation the neonatal nutrition risk .Methods Using the nutritional risk screening tool STRONGkid on 98 cases of hospitalized infants ,and assessed the nutritional status of ne‐onates by using 2013 Fenton growth curve ,and body length ,weight and head circumference measurement .Results The total nutri‐tional risk of the 98 cases of hospitalized infants was 67 .3% (66/98) ,the incidence of premature neonates were higher than the full‐term newborns(P<0 .05);the total malnutrition rate was 52% (51/98) ,the risk of premature newborns were higher than the full‐term newborns(P<0 .05) .The higher the rate of nutritional risk was ,the higher the detection rate of malnutrition was .Conclusion The results of nutritional risk and developmental dysplasia screening tool STRONGkid could provide reference in the early inter‐vention of malnutrition for newborns who had high nutritional risk .

  8. Study on the effect of nursing intervention to relieve pain of newborn caused by blood collection from heel.%护理干预对缓解新生儿足跟采血疼痛的影响

    Institute of Scientific and Technical Information of China (English)

    方渝; 吴梅花; 沈润华; 温惠文; 李霞; 冯智慧

    2011-01-01

    Objective : To discuss the effect of nursing intervention to relieve the pain of newbom caused by blood collection from heel. Methods: 400 newhorns ( 05/2009 - 10/2010 ) were divided into 4 groups, which was induction touch experiment group ( A group ), body position experiment group ( B group ), non - nutritive suck group ( C group ) and compare group ( D group ). Do blood collection from heel on the 4 groups and use the NIPS to evaluate the pain degree. Results: Comparing the pain degree evaluation results of the non - nutritive suck group ( C group ), induction touch experiment group ( A group ) and compare group ( D group ). P <0. 05 , which has statistical significance; comparing the pain degree evaluation results of the body position experiment group ( B group ) and compare group ( D group ), P > 0. 05 , which has no statistical significance. Conclusion: Appropriate nursing intervention can effectively relieve pain of newborn caused by blood collection from heel.%目的:探讨护理干预对缓解新生儿足跟采血疼痛的效果.方法:将我院2009年5月~2010年10月出生的400例新生儿随机分为抚触诱导性干预组(A组)、体位干预组(B组)、非营养性吸吮组(C组)与对照组(D组)各100例进行足跟采血,采用新生儿疼痛评分表进行疼痛评分.结果:非营养性吸吮组(C组)、抚触诱导性干预组(A组)与对照组(D组)分别进行疼痛评分比较,P<0.05,差异具有统计学意义;体位干预组(B组)与对照组(D组)比较,P>0.05,无统计学意义.结论:适当的护理干预措施能有效减轻新生儿足跟采血所致的疼痛.

  9. [Increased incidence of developmental hip dysplasia in hypertrophic newborn infants].

    Science.gov (United States)

    Peschgens, T; Skopnik, H; Casser, H R; Rauschning-Sikora, K; Heimann, G

    1993-01-01

    "Lack of space" in utero is considered to be a major factor in the aetiology of the congenital dislocation of the hip. This study tries to answer the question whether hypertrophy of a newborn has to be regarded as a risk factor on the basis of the principle mentioned above. The results of postnatal clinical and sonographical examination performed on 98 large-for-gestational-age (LGA-) newborn were compared to those performed on 310 newborn children during a non selective screening program. Among the LGA-newborn pathological hip joints were found more often mainly female LGA-newborn infants were affected. It seemed that the birth weight did not correlate to the extent of the retardation of the hip joint development. It was again confirmed that the restriction to only clinical diagnostic procedures in the neonatal period is not effective in the early diagnosis of the malformation. Hypertrophy of a newborn has to be considered as a risk factor behind the development of congenital dislocation of the hip. It is recommended to examine all LGA-newborn infants post partum by clinical and most importantly also by sonographical means to recognize a retardation of hip joint development.

  10. Approach to the bleeding newborn

    OpenAIRE

    1998-01-01

    Bleeding in the newborn can lead to serious cardiovascular and neurological effects. Routine administration of vitamin K has reduced the incidence of hemorrhagic disease of the newborn, but abnormal bleeding can occur in babies from many causes. A practical approach to the diagnosis and treatment of bleeding in the newborn is described in this article.

  11. Roles and responsibilities in newborn care in four African sites.

    Science.gov (United States)

    Iganus, R; Hill, Z; Manzi, F; Bee, M; Amare, Y; Shamba, D; Odebiyi, A; Adejuyigbe, E; Omotara, B; Skordis-Worrall, J

    2015-10-01

    To explore roles and responsibilities in newborn care in the intra- and postpartum period in Nigeria, Tanzania and Ethiopia. Qualitative data were collected using in-depth interviews with mothers, grandmothers, fathers, health workers and birth attendants and were analysed through content and framework analyses. We found that birth attendants were the main decision-makers and care takers in the intrapartum period. Birth attendants varied across sites and included female relatives (Ethiopia and Nigeria), traditional birth attendants (Tanzania and Nigeria), spiritual birth attendants (Nigeria) and health workers (Tanzania and Nigeria). In the early newborn period, when the mother is deemed to be resting, female family members assumed this role. The mothers themselves only took full responsibility for newborn care after a few days or weeks. The early newborn period was protracted for first-time mothers, who were perceived as needing training on caring for the baby. Clear gender roles were described, with newborn care being considered a woman's domain. Fathers had little physical contact with the newborn, but played an important role in financing newborn care, and were considered the ultimate decision-maker in the family. Interventions should move beyond a focus on the mother-child dyad, to include other carers who perform and decide on newborn care practices. Given this power dynamic, interventions that involve men have the potential to result in behaviour change. © 2015 The Authors. Tropical Medicine & International Health Published by John Wiley & Sons Ltd.

  12. Acceptability and Accuracy of Cervical Cancer Screening Using a Self-Collected Tampon for HPV Messenger-RNA Testing among HIV-Infected Women in South Africa.

    Directory of Open Access Journals (Sweden)

    Paul C Adamson

    Full Text Available HIV increases women's risk for high-risk human papillomavirus (hrHPV infection and invasive cervical cancer. South Africa has a high HIV prevalence but low cervical cancer screening coverage. Self-collection of cervical specimens and hrHPV testing, including hrHPV messenger-RNA (mRNA testing, are methods aimed at increasing screening rates. However, data are limited on the acceptability and accuracy of tampon-based self-collection for hrHPV mRNA testing in HIV-infected women.We recruited 325 HIV-infected women seeking care at a government HIV clinic in Pretoria, South Africa. A clinician performed a pelvic examination and obtained an endocervical specimen. Study participants performed self-collection using a tampon. Both clinician- and self-collected specimens were tested for hrHPV mRNA. Acceptability of both collection methods was assessed, the prevalence of hrHPV mRNA in our study population was estimated, test positivity of the two collection methods were compared, and test agreement was assessed by calculating the κ-statistic, sensitivity, and specificity.Over 90% of women reported no difficulties self-collecting specimens and 82% were willing to perform the tampon-collection at home. Based on clinician-collection specimens, the prevalence of hrHPV mRNA in our study population was 36.7% (95% CI: 31.4%- 42.0%. There was no difference in test positivity between clinician-collection, 36.7%, and tampon-collection, 43.5% (p-value = 0.08. Using clinician-collection as the reference test, the sensitivity and specificity for hrHPV mRNA of tampon-collection were 77.4% (95% CI: 69.8-85.0% and 77.8% (95% CI: 71.9-83.6%, respectively.Tampon-based self-collection is acceptable to women and has similar hrHPV mRNA positivity rates as clinician-collection, but has reduced sensitivity and specificity compared to clinician-collection. The hrHPV mRNA prevalence in our study population is high, but similar to other high-risk populations, and highlights the

  13. 75 FR 2554 - Advisory Committee on Heritable Disorders in Newborns and Children

    Science.gov (United States)

    2010-01-15

    ... should have expertise in dealing with heritable disorders and genetic diseases that affect the racial and ethnic and geographical diversity of newborns served by the State newborn screening programs. The... be impaired. Appointments shall be made without discrimination on the basis of age, ethnicity,...

  14. 78 FR 23770 - Establishment of the Discretionary Advisory Committee on Heritable Disorders in Newborns and...

    Science.gov (United States)

    2013-04-22

    ... authorizing directive and guidelines under the Federal Advisory Committee Act (FACA), a charter will be filed... state and local health agencies to provide for newborn and child screening, counseling and health care..., counseling, testing, or specialty services for newborns and children at risk for heritable disorders;...

  15. Pain indicators in newborns

    Directory of Open Access Journals (Sweden)

    Spasojević Slobodan

    2008-01-01

    Full Text Available Definition of pain. The International Association for the Study of Pain has defined pain as "an unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage." The interpretation of pain is subjective. Each person forms an internal construct of pain through encountered injury. Pain and newborn. The issue of pain perception in newborns, its management and prevention has been neglected for decades. The inability of "self-report" of painful experience has contributed significantly to misunderstanding of the importance of this problem and in­adequate treatment. The main characteristic of this 'critical window of brain development' period is rapid enlargement of brain volume and its great plasticity. Harmful short-term and long-term consequences can arise as a consequence of disturbance of the sophisticated balance between newborn and its surrounding. Neonatal pain indicators. As a response to a present painful stimulus, the newborn adapts to this acute stress with changes in endocrine, vegetative, immune and behavioral area. An ideal pain indicator in neonatal period does not exist. There are several different groups o them, namely contextual and developmental indicators (gestational age, contributed illness, medication, for example, physiological (heart rate, vagal tone, breathing rate, blood pressure, oxygen saturation, transcutaneous partial pressures of oxygen and carbon-dioxide, intracranial pressure, palm sweating and behavioral ones (face expression, movements of limbs, cry, several neonatal pain scales were constructed on the basis of these indicators. .

  16. Newborn Black Holes

    Science.gov (United States)

    Science Teacher, 2005

    2005-01-01

    Scientists using NASA's Swift satellite say they have found newborn black holes, just seconds old, in a confused state of existence. The holes are consuming material falling into them while somehow propelling other material away at great speeds. "First comes a blast of gamma rays followed by intense pulses of x-rays. The energies involved are much…

  17. Fecal Collection and Stabilization Methods for Improved Fecal DNA Test for Colorectal Cancer in a Screening Setting

    Directory of Open Access Journals (Sweden)

    Francesca Maria Carozzi

    2013-01-01

    Full Text Available Early detection of CRC and adenomas reduces CRC-related mortality. The optimal screening test for CRC is still a subject of debate, and molecular stool sample analysis could provide a valid alternative to conventional methods in terms of compliance and practicability. Seven fecal DNA storage systems were evaluated in two successive phases. In the first phase of the study was selected the preservative buffer able to ensure the best human DNA recovery. In the second phase was evaluated human DNA stability, amplificability and integrity in DNA extracted from selected buffer. Results showed that the best performance was obtained in samples stored in 100 mM EDTA buffer and Genefec buffer. Likewise buffer addition yielded a significant increase in DNA stability and integrity without PCR inhibition, compared to the matched aliquots with no buffer added. Our study shows that samples collected in stabilization solution stabilize DNA so that intact nucleic acids, are more effectively detectable in the molecular assay. DNA buffer preservation and storage conditions could be useful to guarantee the most consistent yield in human DNA. Stabilization buffer addition to stool samples prior to transport presents an easily implemented solution that appears to be highly effective. Overall DNA extracted from faeces preserved in preservative buffer can feasibility been used for molecular analysis leading to an increase of assay sensitivity.

  18. Respiratory distress in the newborn.

    Science.gov (United States)

    Reuter, Suzanne; Moser, Chuanpit; Baack, Michelle

    2014-10-01

    Respiratory distress presents as tachypnea, nasal flaring, retractions, and grunting and may progress to respiratory failure if not readily recognized and managed. Causes of respiratory distress vary and may not lie within the lung. A thorough history, physical examination, and radiographic and laboratory findings will aid in the differential diagnosis. Common causes include transient tachypnea of the newborn, neonatal pneumonia, respiratory distress syndrome (RDS), and meconium aspiration syndrome (MAS). Strong evidence reveals an inverse relationship between gestational age and respiratory morbidity. (1)(2)(9)(25)(26) Expert opinion recommends careful consideration about elective delivery without labor at less than 39 weeks’ gestation. Extensive evidence, including randomized control trials, cohort studies, and expert opinion, supports maternal group B streptococcus screening, intrapartum antibiotic prophylaxis, and appropriate followup of high-risk newborns according to guidelines established by the Centers for Disease Control and Prevention. (4)(29)(31)(32)(34) Following these best-practice strategies is effective in preventing neonatal pneumonia and its complications. (31)(32)(34). On the basis of strong evidence, including randomized control trials and Cochrane Reviews, administration of antenatal corticosteroids (5) and postnatal surfactant (6) decrease respiratory morbidity associated with RDS. Trends in perinatal management strategies to prevent MAS have changed. There is strong evidence that amnioinfusion, (49) oropharyngeal and nasopharyngeal suctioning at the perineum, (45) or intubation and endotracheal suctioning of vigorous infants (46)(47) do not decrease MAS or its complications. Some research and expert opinion supports endotracheal suctioning of nonvigorous meconium-stained infants (8) and induction of labor at 41 weeks’ gestation (7) to prevent MAS.

  19. Public attitudes towards genomic risk profiling as a component of routine population screening.

    Science.gov (United States)

    Nicholls, S G; Wilson, B J; Craigie, S M; Etchegary, H; Castle, D; Carroll, J C; Potter, B K; Lemyre, L; Little, J

    2013-10-01

    Including low penetrance genomic variants in population-based screening might enable personalization of screening intensity and follow up. The application of genomics in this way requires formal evaluation. Even if clinically beneficial, uptake would still depend on the attitudes of target populations. We developed a deliberative workshop on two hypothetical applications (in colorectal cancer and newborn screening) in which we applied stepped, neutrally-framed, information sets. Data were collected using nonparticipant observation, free-text comments by individual participants, and a structured survey. Qualitative data were transcribed and analyzed using thematic content analysis. Eight workshops were conducted with 170 individuals (120 colorectal cancer screening and 50 newborn screening for type 1 diabetes). The use of information sets promoted informed deliberation. In both contexts, attitudes appeared to be heavily informed by assessments of the likely validity of the test results and its personal and health care utility. Perceived benefits included the potential for early intervention, prevention, and closer monitoring while concerns related to costs, education needs regarding the probabilistic nature of risk, the potential for worry, and control of access to personal genomic information. Differences between the colorectal cancer and newborn screening groups appeared to reflect different assessments of potential personal utility, particularly regarding prevention.

  20. Gingival Cyst of Newborn.

    Science.gov (United States)

    Moda, Aman

    2011-01-01

    Gingival cyst of newborn is an oral mucosal lesion of transient nature. Although it is very common lesion within 3 to 6 weeks of birth, it is very rare to visualize the lesion thereafter. Presented here is a case report of gingival cyst, which was visible just after 15 days of birth. Clinical diagnoses of these conditions are important in order to avoid unnecessary therapeutic procedure and provide suitable information to parents about the nature of the lesion.

  1. Low-cost near-infrared measurement of subcutaneous fat for newborn malnutrition

    Science.gov (United States)

    McEwan, A. L.; Bian, S.; Gargiulo, G. D.; Morhard, R.; Jones, P.; Mustafa, F. H.; Bek, B. Emily; Jeffery, H. E.

    2014-04-01

    Low fat composition in newborns exposes them to an immediate risk of increased mortality and morbidity, inhibited physical and cognitive development and to diabetes and obesity diseases in later life. Information about nutritional and dietary status of newborns can be accessed by measuring the amount of fat composition in the body. The functions of subcutaneous fat involve energy storage, thermo-insulation and a physical buffer. Current technologies for newborn body fat monitoring are: a device based on air displacement plethesmography (PeaPod), dual-energy Xray, and underwater weighting. However they are bulky, expensive, immobile, and require technical expertise. We propose an alternative portable measurement system of in-vitro for subcutaneous fat that uses diffuse near-infrared light reflectance measurement system. We also introduce an in-vitro three-layered tissue model mimicking the subcutaneous fat layer in newborns together with a preliminary study to measure fat using dual-wavelength nearinfrared light. Based on the output data from these measurements, we have proposed a suitable transmission and scattering model. This model estimated the amount of reflected light collected by a photodetector after incident light is scattered in several fat layers. Our portable sensor is low cost and does not require training hence it is suitable for mass use in the developing world. It consists of a single LED and two photodetectors (900 nm and 1000 nm). The photodetectors wavelengths were chosen to be sensitive to fat as it exhibits a peak in the wavelength at 930 nm and to water at which exhibits a peak at 980 nm; the latter is used, to remove hydration bias. Results on a porcine tissue model demonstrate differentiation as low as 2 mm fat which is a relevant screening thickness to indicate low percentage body fat.

  2. Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

    Directory of Open Access Journals (Sweden)

    Ibarra-González Isabel MSc

    2014-04-01

    Full Text Available Inborn errors of intermediary metabolism (IEiM are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/infections actually decompensate in the neonatal period. In this study, we performed metabolic tests on 2025 newborns in Mexico admitted to 35 neonatal intensive care units or emergency wards (NICUs/EWs over a 6-year period, in whom a metabolic disorder was clinically suspected. Of these 2025 newborns with sickness, 11 had IEiM, revealing a prevalence of 1:184. Clinical characteristics and outcomes of the newborns with confirmed IEiM are shown. Of these 11 patients, 4 had isolated methylmalonic acidemia, 3 had maple syrup urine disease, 2 had urea cycle disorders, 1 had 3-hydroxy-3-methylglutaric acidemia, and 1 had isovaleric acidemia. During the first week of life (average 3 days, all of these newborns presented with impaired alertness, hypotonia, feeding difficulties, and vomiting along with metabolic acidosis and hyperammonemia. Of the 11 newborns with IEiM, 7 died, leading to a mortality rate of 64%. In conclusion, the differential diagnosis of newborns admitted to the NICU/EW must include IEiM, requiring systematic screening of this population.

  3. Newborn predictors of infant irritability.

    Science.gov (United States)

    Keefe, M R; Froese-Fretz, A; Kotzer, A M

    1998-01-01

    To identify newborn infant behaviors that may predict infant irritability, commonly referred to as colic. A prospective, correlational design, with data collection occurring the first 4 days of life and again at 1 month of age. This study was conducted in a private hospital in a large metropolitan city in the Midwest. Sixty infants who were at low risk and full term and whose weight was appropriate for gestational age were recruited during their postpartum hospital stay. Infants with congenital anomalies, signs of illness, or high-risk factors were excluded from the study. During infants' 1-4-day hospital stays, their crying was assessed and reported by the nurses, and a Neonatal Behavioral Assessment Scale was completed on each infant. At 1 month of age, irritability was measured using the Fussiness Rating Scale. Only two components of the Neonatal Behavioral Assessment Scale were related to development of colic or infant irritability at 1 month of age. These were the cluster of variables representing motor activity and the Neonatal Behavioral Assessment Scale supplemental item measuring the persistence necessary on the part of the examiner to get the infant to attend to stimuli presented. The infants who were classified by parents as irritable at 1 month of age were more active and more attentive to stimuli in the first few days of life. Of interest was that the newborn nursery nurses cry ratings were not related to the later development of colic in these infants. Active infants who are sensitive to stimuli may be predisposed to infant irritability; however, further work is needed to understand the relationships of these infant characteristics to the human interactions and physical environments they encounter

  4. Reference intervals for acetylated fetal hemoglobin in healthy newborns

    Directory of Open Access Journals (Sweden)

    Renata Paleari

    2014-09-01

    Full Text Available The acetylated fetal hemoglobin (AcHbF derives from an enzyme-mediated post-translational modification occurring on the N-terminal glycine residues of γ-chains. At present, no established data are available on reference intervals for AcHbF in newborns. A total of 92 healthy infants, with gestational age between 37 and 41 weeks were selected for the establishment of AcHbF reference intervals. Blood samples were collected by heel pricking, when collecting routine neonatal screening, and the hemoglobin pattern was analyzed by high-performance liquid chromatography. AcHbF results were then normalized for HbF content in order to account for differences in hemoglobin switch. No difference was found in AcHbF values between genders (P=0.858. AcHbF results were as follow: 12.8±0.8% (mean±standard deviation, reference interval: 11.3-14.3%. This finding could facilitate further studies aimed to assess the possible use of AcHbF, for instance as a possible fetal metabolic biomarker during pregnancy.

  5. Analysis of questionnaires and related factors on parents whose babies failed the first newborn hearing screening%未通过听力初筛新生儿家长知信行状况及相关因素分析

    Institute of Scientific and Technical Information of China (English)

    贾晓; 马莹; 卞迁; 张巍; 史蕾; 韩优莉; 王亚东; 孙慧红; 龚新红; 马丽霞; 张淑燕

    2012-01-01

    目的 了解家长对新生儿听力筛查的知晓度、认可度、心理状态以及依从性,进一步分析其影响因素.方法 2010年9月至2011年6月,采用问卷调查的形式,在北京妇产医院(三级医院)及海淀区妇幼保健院(二级医院)对未通过新生儿听力筛查的家长进行相关问卷的调查.结果 共发放问卷680份,全部收回.有效问卷653份,有效率(96%).数据分析显示,384例(58.8%)家长表示在入院宣教时了解到新生儿听力筛查,仅90例(13.7%)家长表示在产前宣教时即了解到.647例(99.1%)家长认为筛查有必要,但仅479例(73.4%)家长认可普筛中使用诱发型耳声发射(OAE)和自动听觉脑干诱发电位(AABR)联合筛查.517例(79.2%)家长对初筛结果未通过表示担心.对于降低假阳性转诊的三阶段筛查模式,464例(71.0%)家长表示愿意接受.经多因素Logistic回归分析显示,母亲学历和分娩医院级别越高者,家长的担心情绪越低(P<0.05);母亲学历高者,更容易接受三阶段筛查模式(P <0.0-5).结论 大部分家长对新生儿听力筛查持认可态度,但对其认知程度和依从性有待提高.母亲学历及分娩医院级别越高,家长对初筛未通过的担心情绪越低.加强宣教力度才能更好的推进听力筛查工作的进一步发展.%Objective To study the awareness, acceptance, psychological status and compliance of parents on newborn hearing screening as to further analyze the related factors. Methods Questionnaire survey was conducted in Beijing Obstetrics Gynecology Hospital and Haidian Maternal & Child Health hospital with parents whose babies failed the first newborn hearing screening from September 2010 to June 2011. Results Totally 680 copies of questionnaires were distributed to parents and retrieved with 653 valid copies. Coefficient of recovery and response rate is 100% and 96% respectively. 58.5% (348) of parents claim that they learn newborn hearing screening

  6. Large-scale virtual high-throughput screening for the identification of new battery electrolyte solvents: computing infrastructure and collective properties.

    Science.gov (United States)

    Husch, Tamara; Yilmazer, Nusret Duygu; Balducci, Andrea; Korth, Martin

    2015-02-07

    A volunteer computing approach is presented for the purpose of screening a large number of molecular structures with respect to their suitability as new battery electrolyte solvents. Collective properties like melting, boiling and flash points are evaluated using COSMOtherm and quantitative structure-property relationship (QSPR) based methods, while electronic structure theory methods are used for the computation of electrochemical stability window estimators. Two application examples are presented: first, the results of a previous large-scale screening test (PCCP, 2014, 16, 7919) are re-evaluated with respect to the mentioned collective properties. As a second application example, all reasonable nitrile solvents up to 12 heavy atoms are generated and used to illustrate a suitable filter protocol for picking Pareto-optimal candidates.

  7. Critical Congenital Heart Disease Screening by Pulse Oximetry in a Neonatal Intensive Care Unit

    Science.gov (United States)

    Manja, Veena; Mathew, Bobby; Carrion, Vivien; Lakshminrusimha, Satyan

    2014-01-01

    Critical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false positive rate (0.035%). Objective (1) To compare 2817 NICU discharges before and after implementation of CCHD screening; and (2) to evaluate CCHD screening at < 35 weeks gestation. Methods collection of results of CCHD screening including preductal and postductal SpO2 values. Results During the pre-CCHD screen period, 1247 infants were discharged from the NICU and one case of CCHD was missed. After 3/1/12, 1508 CCHD screens were performed among 1570 discharges and no CCHDs were missed. The preductal and postductal SpO2 values were 98.8±1.4% and 99±1.3% respectively in preterm and 98.9±1.3% and 98.9±1.4% in term infants. Ten infants had false positive screens (10/1508=0.66%). Conclusions Performing universal screening in the NICU is feasible but is associated with a higher false positive rate compared to asymptomatic newborn infants. PMID:25058746

  8. [Bednar's aphthae in newborn].

    Science.gov (United States)

    Fariñas Salto, Mercedes; Menéndez Hernando, Cristina; Martín Molina, Raquel; Galán Gómez, Víctor; García de Pedro, Fernando J

    2017-02-01

    The description of the Bednar's ulcer is uncommon in the current literature. It has been associated with the traumatic effect of the bottle's nipple and/or no orthodontic soothers while breastfeeding. We present a newborn of 20 days of life attended at the emergency room for irritability, with the only finding on physical examination of two oral ulcers. We describe the clinical presentation, evolution and treatment. The normality of the diagnostic test, clinical characteristics and evolution lead to the diagnosis of Bednar´s ulcer.

  9. A tailored within-community specimen collection strategy increased uptake of cervical cancer screening in a cross-sectional study in Ghana.

    Science.gov (United States)

    Awua, Adolf K; Wiredu, Edwin K; Afari, Edwin A; Tijani, Ahmad S; Djanmah, Gabriel; Adanu, Richard M K

    2017-08-01

    The implementation of cervical cancer screening strategies has reported different rates of success in different countries due to population specific factors that limit women's participation. We report observations and the development of a community-based specimen collection strategy which resulted from interactions with women in the study communities, following an initial low response to a hospital based cervical cancer screening strategy. Women were recruited by a house survey and invited to report at a hospital either within a week or after a week for self and health-personnel specimen collections. However, due to the very low response and subsequent interactions with the women of the communities, another strategy was developed that required recruited women report at a central location within their respective communities for specimen collections at times that did not interfere with their daily routines. For specimen collection, of the 156 participants who opted to report after a week at the hospital, 60 (38.5%) reported. Of the 118 participants who opted to report within 1 week at the hospital, 55 (46.6%) reported. Of the 103 participants were invited to report at a specified location within the community, 98 (95.1%) reported. An overall response rate of 60.4% was attained. Almost 89.7% (226 of 253) of the women performed both self and health personnel sample collection. The community-based strategy with self-specimen collection and HPV testing holds great potential for increasing women's participation in cervical cancer screening in Ghana as compared to the hospital based strategy.

  10. Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

    Directory of Open Access Journals (Sweden)

    Lisa Bleyle

    2016-06-01

    Conclusions: We provide additional evidence suggesting 7α12αC4 may be a promising test marker to screen newborn DBS for CTX. Early detection and intervention through newborn screening would greatly benefit those affected with CTX, preventing morbidity and mortality.

  11. Medical Care and Your Newborn

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Medical Care and Your Newborn KidsHealth > For Parents > Medical Care and Your Newborn A A A What's ... doctor of the birth. If you had any medical problems during pregnancy, if your baby might have ...

  12. Medical Care and Your Newborn

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Medical Care and Your Newborn KidsHealth > For Parents > Medical Care and Your Newborn Print A A A ... doctor of the birth. If you had any medical problems during pregnancy, if your baby might have ...

  13. Conjunctivitis (Pink Eye) in Newborns

    Science.gov (United States)

    ... Work Adenovirus Non-Polio Enterovirus Parent Portal Conjunctivitis (Pink Eye) in Newborns Language: English Español (Spanish) Recommend ... recién nacidos Newborns with symptoms of conjunctivitis (pink eye) should see a doctor right away. Neonatal ...

  14. European guidelines for quality assurance in cervical cancer screening: recommendations for collecting samples for conventional and liquid-based cytology.

    NARCIS (Netherlands)

    Arbyn, M.; Herbert, A.; Schenck, U.; Nieminen, P.; Jordan, J.; Mcgoogan, E.; Patnick, J.; Bergeron, C.; Baldauf, J.J.; Klinkhamer, P.; Bulten, J.; Martin-Hirsch, P.

    2007-01-01

    The current paper presents an annex in the second edition of the European Guidelines for Quality Assurance in Cervical Cancer Screening. It provides guidance on how to make a satisfactory conventional Pap smear or a liquid-based cytology (LBC) sample. Practitioners taking samples for cytology should

  15. European guidelines for quality assurance in cervical cancer screening: recommendations for collecting samples for conventional and liquid-based cytology.

    NARCIS (Netherlands)

    Arbyn, M.; Herbert, A.; Schenck, U.; Nieminen, P.; Jordan, J.; Mcgoogan, E.; Patnick, J.; Bergeron, C.; Baldauf, J.J.; Klinkhamer, P.; Bulten, J.; Martin-Hirsch, P.

    2007-01-01

    The current paper presents an annex in the second edition of the European Guidelines for Quality Assurance in Cervical Cancer Screening. It provides guidance on how to make a satisfactory conventional Pap smear or a liquid-based cytology (LBC) sample. Practitioners taking samples for cytology should

  16. Haemolytic disease of the newborn due to multiple maternal antibodies

    Directory of Open Access Journals (Sweden)

    Suresh B

    2014-07-01

    Full Text Available Haemolytic disease of the foetus and newborn (HDFN is a condition in which the lifespan of an infant’s red blood cells (RBCs is shortened by the action of specific maternal immunoglobulin G (IgG antibody. Rhesus (Rh- D haemolytic disease of the newborn is a prototype of maternal isoimmunization and foetal haemolytic disease. Although rare, the other blood group antigens capable of causing alloimunization and haemolytic disease are c, C, E, Kell and Duffy. We report a case of HDFN due to anti-D and anti-C in the maternal serum as a result of anamnestic response to Rh-D and C antigens. This report highlights the importance of antibody screening in antenatal women which could assist in diagnosing and successfully treating the foetus and newborn with appropriate antigen negative cross-matched compatible blood.

  17. Rapid, sensitive and reproducible method for point-of-collection screening of liquid milk for adulterants using a portable Raman spectrometer with novel optimized sample well

    Science.gov (United States)

    Nieuwoudt, Michel K.; Holroyd, Steve E.; McGoverin, Cushla M.; Simpson, M. Cather; Williams, David E.

    2017-02-01

    Point-of-care diagnostics are of interest in the medical, security and food industry, the latter particularly for screening food adulterated for economic gain. Milk adulteration continues to be a major problem worldwide and different methods to detect fraudulent additives have been investigated for over a century. Laboratory based methods are limited in their application to point-of-collection diagnosis and also require expensive instrumentation, chemicals and skilled technicians. This has encouraged exploration of spectroscopic methods as more rapid and inexpensive alternatives. Raman spectroscopy has excellent potential for screening of milk because of the rich complexity inherent in its signals. The rapid advances in photonic technologies and fabrication methods are enabling increasingly sensitive portable mini-Raman systems to be placed on the market that are both affordable and feasible for both point-of-care and point-of-collection applications. We have developed a powerful spectroscopic method for rapidly screening liquid milk for sucrose and four nitrogen-rich adulterants (dicyandiamide (DCD), ammonium sulphate, melamine, urea), using a combined system: a small, portable Raman spectrometer with focusing fibre optic probe and optimized reflective focusing wells, simply fabricated in aluminium. The reliable sample presentation of this system enabled high reproducibility of 8% RSD (residual standard deviation) within four minutes. Limit of detection intervals for PLS calibrations ranged between 140 - 520 ppm for the four N-rich compounds and between 0.7 - 3.6 % for sucrose. The portability of the system and reliability and reproducibility of this technique opens opportunities for general, reagentless adulteration screening of biological fluids as well as milk, at point-of-collection.

  18. The use of saliva as a practical and feasible alternative to urine in large-scale screening for congenital cytomegalovirus infection increasesinclusion and detection rates

    Directory of Open Access Journals (Sweden)

    Emanuelle Santos de Carvalho Cardoso

    2015-04-01

    Full Text Available INTRODUCTION: Although urine is considered the gold-standard material for the detection of congenital cytomegalovirus (CMV infection, it can be difficult to obtain in newborns. The aim of this study was to compare the efficiency of detection of congenital CMV infection in saliva and urine samples. METHODS: One thousand newborns were included in the study. Congenital cytomegalovirus deoxyribonucleic acid (DNA was detected by polymerase chain reaction (PCR. RESULTS: Saliva samples were obtained from all the newborns, whereas urine collection was successful in only 333 cases. There was no statistically significant difference between the use of saliva alone or saliva and urine collected simultaneously for the detection of CMV infection. CONCLUSIONS: Saliva samples can be used in large-scale neonatal screening for CMV infection.

  19. [Care of mothers of newborns in intensive care units: experiences, feelings and expectations of the mothers].

    Science.gov (United States)

    Belli, M A

    1995-08-01

    The purpose of the study was to examine the experiences, feelings and expectation of mothers of high risk newborns. The population was a group of 20 mothers of high risk newborns of three hospitals in the City of São Paulo. Interview with the mothers was the method of data collection containing opened and structured questions. It was verified that most of the mothers had none or only a little interaction with the newborn after delivery; the eye contact was the most referred during the staying of the newborn in the Intensive Care Unity; all of them demonstrated interest in participating in the care of the newborn and expressed the need of information concerning to the health status of the newborn, the Intensive Care Unity environment and the hospital team. Several were the feelings expressed and the motives that indicated the needs of the mothers.

  20. Dangerous and Expensive Screening and Treatment for Rare Childhood Diseases: The Case of Krabbe Disease

    Science.gov (United States)

    Lantos, John D.

    2011-01-01

    Public policy surrounding newborn screening is in flux. New technology allows more screening for more diseases at lower cost. Traditional criteria for target diseases have been criticized by leading health policymakers. The example of newborn screening for Krabbe disease highlights many of the dilemmas associated with population-based screening…

  1. Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil.

    Science.gov (United States)

    Adorno, Elisângela Vitória; Couto, Fábio David; Moura Neto, José Pereira de; Menezes, Joelma Figueiredo; Rêgo, Marco; Reis, Mitermayer Galvão dos; Gonçalves, Marilda Souza

    2005-01-01

    Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2 (4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

  2. Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

    Directory of Open Access Journals (Sweden)

    Adorno Elisângela Vitória

    2005-01-01

    Full Text Available Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb and alpha2(4.2 Kb thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8% were FAS; 36 (6.5% FAC; one (0.2% SF; and five (0.9% FSC. One hundred fourteen (22.2% newborns had alpha2(3.7 Kb thalassemia, of whom 101 (19.7% were heterozygous and 13 (2.5% homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb thalassemia carriers. The alpha2(4.2 Kb thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

  3. Newborn Care in the Home and Health Facility: Formative Findings for Intervention Research in Cambodia.

    Science.gov (United States)

    Bazzano, Alessandra N; Taub, Leah; Oberhelman, Richard A; Var, Chivorn

    2016-12-21

    Global coverage and scale up of interventions to reduce newborn mortality remains low, though progress has been achieved in improving newborn survival in many low-income settings. An important factor in the success of newborn health interventions, and moving to scale, is appropriate design of community-based programs and strategies for local implementation. We report the results of formative research undertaken to inform the design of a newborn health intervention in Cambodia. Information was gathered on newborn care practices over a period of three months using multiple qualitative methods of data collection in the primary health facility and home setting. Analysis of the data indicated important gaps, both at home and facility level, between recommended newborn care practices and those typical in the study area. The results of this formative research have informed strategies for behavior change and improving referral of sick infants in the subsequent implementation study. Collection and dissemination of data on newborn care practices from settings such as these can contribute to efforts to advance survival, growth and development of newborns for intervention research, and for future newborn health programming.

  4. Newborn Care in the Home and Health Facility: Formative Findings for Intervention Research in Cambodia

    Directory of Open Access Journals (Sweden)

    Alessandra N. Bazzano

    2016-12-01

    Full Text Available Global coverage and scale up of interventions to reduce newborn mortality remains low, though progress has been achieved in improving newborn survival in many low-income settings. An important factor in the success of newborn health interventions, and moving to scale, is appropriate design of community-based programs and strategies for local implementation. We report the results of formative research undertaken to inform the design of a newborn health intervention in Cambodia. Information was gathered on newborn care practices over a period of three months using multiple qualitative methods of data collection in the primary health facility and home setting. Analysis of the data indicated important gaps, both at home and facility level, between recommended newborn care practices and those typical in the study area. The results of this formative research have informed strategies for behavior change and improving referral of sick infants in the subsequent implementation study. Collection and dissemination of data on newborn care practices from settings such as these can contribute to efforts to advance survival, growth and development of newborns for intervention research, and for future newborn health programming.

  5. Basic consciousness of the newborn.

    Science.gov (United States)

    Lagercrantz, Hugo; Changeux, Jean-Pierre

    2010-06-01

    The newborn shows several signs of consciousness, such as being awake and aware of him/herself and mother. The infant processes olfactory and painful inputs in the cortex, where consciousness is believed to be localized. Furthermore, the newborn expresses primary emotions such as joy, disgust, and surprise and remember rhymes and vowels to which he or she has been exposed during fetal life. Thus, the newborn infant fulfills the criteria of displaying a basic level of consciousness, being aware of its body and him/her-self and somewhat about the external world. Preterm infants may be conscious to a limited degree from about 25 weeks, when the thalamocortical connections are established.

  6. Measurement and repeatability of interrupter resistance in unsedated newborn infants.

    Science.gov (United States)

    Adams, A M; Olden, C; Wertheim, D; Ives, A; Bridge, P D; Lenton, J; Seddon, P

    2009-12-01

    Interrupter resistance (R(int)) is a useful measure of airway caliber in young children, but has not been well characterized in infants-in whom there are concerns about the accurate measurement of driving pressure. This study aimed to assess the feasibility and repeatability of measuring R(int) in unsedated newborn infants, and to explore alternative algorithms for calculating driving pressure. R(int) measurement was attempted in 28 healthy term newborn infants during natural sleep using the MicroRint device. Paired R(int) measurements were achieved in 24 infants, but after screening of waveforms only 15 infants had at least 5 technically acceptable waveforms on both measurements. R(int) values obtained were comparable with reported values for airflow resistance in newborns using other methods. However, the repeatability coefficient (CR) was much higher than reported values in preschool children using standard back-extrapolation algorithms, with CR 2.47 KPa L(-1) sec (unscreened) and 2.93 KPa L(-1) sec (screened). Other algorithms gave only marginally better repeatability, with all CR values over 50% of the mean R(int) value. Using current commercially available equipment, R(int) is too poorly repeatable to be a reliable measurement of airflow resistance in newborn infants. Lower deadspace equipment is needed, but anatomical and physiological factors in the infant are also important.

  7. In-vitro antimicrobial screening with phytochemical study of Plumbago zeylanica L. collected from two regions of Eastern Himalayas- A comparative study

    Directory of Open Access Journals (Sweden)

    Bapan Banik

    2014-09-01

    Full Text Available Geographical variation plays an important role in the phytoconstituents of the plant species. The present study was an investigation of phytochemical and antimicrobial properties of a same species of plant Plumbago zeylanica L. collected from two different Eastern Himalayan regions (Sikkim and Assam. The solvent used for extraction of plants were chloroform, acetone and ethanol. Preliminary phytochemical screening revealed the presence of alkaloids, flavonoids, carbohydrates, triterpenoids, gum, mucilage, fatty acids, protein and saponine in both region plants.  The qualitative phytochemical study revealed important information about the different phytoconstituents content present in the various extracts of same plant collected from two different regions. The in-vitro antimicrobial evaluation was carried out by agar disc diffusion method and it was performed on microbial strains like gram negative species Salmonella typhi and Pseudomonas aeruginosa and gram positive bacteria Bacillus subtilis and Staphylococcus aureus. Standard antibiotic Amoxicillin was used as a reference drug to screen the antimicrobial properties of extracts. Ethanolic extract exerted the maximum activity in both regions plants. The ethanol extracts of both region plants showed significant antibacterial activity against all the organisms, while chloroform and acetone fractions showed moderate activity. As this was a comparative study so, the interesting finding was that Assam plant extract was having more potency especially ethanol extract in comparison to Sikkim plant extracts. Therefore, the detail result and analysis of this study helped to distinguish the differences in characters with special attention towards antimicrobial properties of P. zeylanica L. species collected from these two Himalayan regions.

  8. Sickle cell disease: time for a targeted neonatal screening programme.

    LENUS (Irish Health Repository)

    Gibbons, C

    2015-02-01

    Ireland has seen a steady increase in paediatric sickle cell disease (SCD). In 2005, only 25% of children with SCD were referred to the haemoglobinopathy service in their first year. A non-funded screening programme was implemented. This review aimed to assess the impact screening has had. All children referred to the haemoglobinopathy service born in Ireland after 2005 were identified. Data was collected from the medical chart and laboratory system. Information was analysed using Microsoft Excel. 77 children with SCD were identified. The median age at antibiotic commencement in the screened group was 56 days compared with 447 days in the unscreened group, p = < 0.0003. 22 (28%) of infants were born in centre\\'s that do not screen and 17 (81%) were over 6 months old at referral, compared with 14 (21%) in the screened group. 6 (27%) of those in the unscreened group presented in acute crisis compared with 2 (3%) in the screened population. The point prevalence of SCD in Ireland is 0.2% in children under 15 yr of African and Asian descent. We identified delays in referral and treatment, which reflect the lack of government funded support and policy. We suggest all maternity units commence screening for newborns at risk of SCD. It is a cost effective intervention with a number needed to screen of just 4 to prevent a potentially fatal crisis.

  9. Hemolytic disease of the newborn

    Science.gov (United States)

    ... about 120 days in the body. In this disorder, red blood cells in the blood are destroyed earlier than normal. ... Hemolytic disease of the fetus and newborn (HDFN); Erythroblastosis fetalis; ... - HDN; ABO incompatibility - HDN; Rh incompatibility - HDN

  10. Screening of phytochemicals and antimicrobial activity of Caulerpa scalpelliformis collected from Manapad Coast, Tuticorin District, Tamilnadu, South India

    Institute of Scientific and Technical Information of China (English)

    N Karthick; M Anees Fathimal; K Ramesh; H Sridhar; M Natrajan; VV Divya; M Umavanitha; S Umamaheswari

    2014-01-01

    Objective:To analyse the phytochemicals, elements and evaluate the antimicrobial activity of Caulerpa scalpelliformis (C. scalpelliformis) against different bacterial and fungal pathogens. Methods: For the elemental analysis and the screening of phytochemicals, some common and available standard tests were done. The antimicrobial activity was done through the agar well diffusion method. Results:In the qualitative phytochemical screening, among the five different solvent extracts of C. scalpelliformis, the benzene extract showed a maximum number of compounds such as tannins, flavanoids, glycosides, phenols, saponins, terpenoids, etc. The quantitative analysis showed the total protein, total carbohydrate and total lipid content to be (15.86±1.13)%w/w, (10.32±0.94)%w/w, and (1.05±0.08)% w/w respectively. The antibacterial activity showed a maximum zone of inhibition (15±0.18) mm and a minimum zone of inhibition (6±0.05) mm in the benzene extract of C. scalpelliformis exhibited against Serratia marcescens and Bacillus subtilis. The antifungal assay of C. scalpelliformis showed the benzene extract rendered a maximum activity (20±0.25) mm against Aspergillus terreus whereas a minimum activity (12±0.14) mm obtained in the chloroform extract against Aspergillus flavus. Conclusions: Our findings provide the evidence that the benzene extract of C. scalpelliformis possesses the good antimicrobial activity and hence the algae proves to be an effective therapeutic agent.

  11. Screening of phytochemicals and antimicrobial activity of Caulerpa scalpelliformis collected from Manapad Coast, Tuticorin District, Tamilnadu, South India

    Directory of Open Access Journals (Sweden)

    N Karthick

    2014-02-01

    Full Text Available Objective: To analyse the phytochemicals, elements and evaluate the antimicrobial activity of Caulerpa scalpelliformis (C. scalpelliformis against different bacterial and fungal pathogens. Methods: For the elemental analysis and the screening of phytochemicals, some common and available standard tests were done. The antimicrobial activity was done through the agar well diffusion method. Results: In the qualitative phytochemical screening, among the five different solvent extracts of C. scalpelliformis, the benzene extract showed a maximum number of compounds such as tannins, flavanoids, glycosides, phenols, saponins, terpenoids, etc. The quantitative analysis showed the total protein, total carbohydrate and total lipid content to be (15.86±1.13% w/w, (10.32±0.94% w/ w, and (1.05±0.08% w/w respectively. The antibacterial activity showed a maximum zone of inhibition (15±0.18 mm and a minimum zone of inhibition (6±0.05 mm in the benzene extract of C. scalpelliformis exhibited against Serratia marcescens and Bacillus subtilis. The antifungal assay of C. scalpelliformis showed the benzene extract rendered a maximum activity (20±0.25 mm against Aspergillus terreus whereas a minimum activity (12±0.14 mm obtained in the chloroform extract against Aspergillus flavus. Conclusions: Our findings provide the evidence that the benzene extract of C. scalpelliformis possesses the good antimicrobial activity and hence the algae proves to be an effective therapeutic agent.

  12. Intraventricular Hemorrhage of the Newborn

    OpenAIRE

    1999-01-01

    Intraventricular hemorrhage IVH of the premature newborn is an important complication which determines its prognosis Intravascular vascular and extravascular factors should be considered in its etiology Cranial ultrasonography is the most suitable medical imagery technique IVH is graded from 1 to 4 according to its severity Prevention is the most crucial point in its management The literature and the management of IVH is reviewed Key words: Newborn Premature Intraventricular Hemorrhage

  13. Human Newborns Match Tongue Protrusion of Disembodied Human and Robotic Mouths

    Science.gov (United States)

    Soussignan, Robert; Courtial, Alexis; Canet, Pierre; Danon-Apter, Gisele; Nadel, Jacqueline

    2011-01-01

    No evidence had been provided so far of newborns' capacity to give a matching response to 2D stimuli. We report evidence from 18 newborns who were presented with three types of stimuli on a 2D screen. The stimuli were video-recorded displays of tongue protrusion shown by: (a) a human face, (b) a human tongue from a disembodied mouth, and (c) an…

  14. 111例未通过听力筛查新生儿常见耳聋基因突变位点分析%The analysis of common mutation in deafness-associated gene in 111 neonates who failed to pass newborn hearing screening

    Institute of Scientific and Technical Information of China (English)

    张舒; 周杰; 程龙飞; 张其刚; 潘琼

    2016-01-01

    Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.%目的:了解未通过听力筛查新生儿耳聋基因突变情况。方法随机选取听力筛查未通过、经听觉脑干诱发电位(ABR)测试为感音神经性耳聋患儿111例,收集足跟血血片,提取基因组DNA后,检测GJB 2、SLC 26 A 4和线粒体12SrRNA基因中的11个热点的突变,分析听力损失程度与突变的关联。结果111例新生儿中,共检出携带耳聋基因突变24例(21.6%

  15. Frequency of Hearing Defect and Ear Abnormalities in Newborns Conceived by Assisted Reproductive Techniques in Royan Institute

    Directory of Open Access Journals (Sweden)

    Seyed Ebrahim Ahmadi

    2010-01-01

    Full Text Available Background: Assisted reproductive techniques (ART are used with increasing frequencyworldwide. The present research was conducted to determine the effects of ART on hearing defectsand ear abnormalities.Materials and Methods: In a descriptive, cross-sectional, non-randomized study, the status ofhearing and ear abnormalities was assessed in 300 newborns conceived by ART at Royan Institute,Tehran, Iran. This study was performed over a sixteen month period.Data were collected from parents, otoscopic examinations and transiently evoked otoacousticemissions (TEOAE tests of the newborns. The external ear was assessed by otoscopic examination,followed by the TEOAE test (an objective test that does not need the infant’s collaboration whichwas performed by an audiologist. In this test, the OAE wave was registered after a click (stimulusat 5-20 millisecond intervals with an 82 dB SPL altitude. Data were analyzed by statistical tests.Results: Of the 300 cases examined by otoscopy, two cases (0.66% had bilateral malformationin the auricle, two (0.66% had unilateral perforation of the tympanic membrane, five (1.66%had unilateral retraction of the tympanic membrane, eight (2.66% had bilateral retraction of thetympanic membrane, one (0.33% had unilateral tympanic membrane inflammation, one (0.33%had bilateral tympanic membrane inflammation and one case (0.33% had wax obstruction of theexternal ear canal.A total of 289 out of 300 newborns undewent the TEOAE test. Of these, three cases (1.03% did nothave a bilateral registered wave and were diagnosed with bilateral hearing loss.Conclusion: This study shows that hearing and ear screening in newborns conceived by ARTis contemplative and emphasizes the profitability of continual check up in these infants.

  16. Perspectivas para triagem da deficiência auditiva genética: rastreamento da mutação 35delG em neonatos Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population

    Directory of Open Access Journals (Sweden)

    Vânia B. Piatto

    2005-04-01

    Full Text Available OBJETIVO: Investigar a prevalência da mutação 35delG em amostra de recém-nascidos, com teste molecular específico; avaliar as perspectivas para a triagem neonatal genética para a deficiência auditiva. CASUÍSTICA E MÉTODO: Foram avaliados 223 recém-nascidos no Hospital de Base de São José do Rio Preto, em São Paulo, para análise molecular da mutação 35delG, no gene da conexina 26, com a técnica da reação em cadeia da polimerase alelo-específico, após extração do DNA genômico de sangue de cordão umbilical. RESULTADOS: Foram identificados cinco heterozigotos, obtendo-se prevalência de 2,24% de portadores da mutação 35delG, na população do estudo. CONCLUSÃO: O uso do teste molecular permitiu a identificação da mutação 35delG na população do estudo, podendo ser utilizado como complemento aos rastreamentos audiométricos neonatais por ser simples, rápido, de fácil execução e de baixo custo.OBJECTIVES: To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment. POPULATION AND METHOD: 233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analysis of the 35delG mutation in the connexin 26 gene, with the reaction technique in allele-specific polymerase chain reaction, after genomic DNA extraction from umbilical cord blood. RESULTS: Five heterozygotes were identified, obtaining a prevalence of 2.24% of 35delG mutation carriers in the study population. CONCLUSION: Using the molecular test allowed for the identification of the 35delG mutation in the study population with the possibility of being used as a complement to neonatal audiometric screening as being simple, fast, and easily to perform with low costs.

  17. Performance of the Fecal Immunochemical Test for Colorectal Cancer Screening Using Different Stool-Collection Devices: Preliminary Results from a Randomized Controlled Trial.

    Science.gov (United States)

    Shin, Hye Young; Suh, Mina; Baik, Hyung Won; Choi, Kui Son; Park, Boyoung; Jun, Jae Kwan; Hwang, Sang-Hyun; Kim, Byung Chang; Lee, Chan Wha; Oh, Jae Hwan; Lee, You Kyoung; Han, Dong Soo; Lee, Do-Hoon

    2016-11-15

    We are in the process of conducting a randomized trial to determine whether compliance with the fecal immunochemical test (FIT) for colorectal cancer screening differs according to the stool-collection method. This study was an interim analysis of the performance of two stool-collection devices (sampling bottle vs conventional container). In total, 1,701 individuals (age range, 50 to 74 years) were randomized into the sampling bottle group (intervention arm) or the conventional container group (control arm). In both groups, we evaluated the FIT positivity rate, the positive predictive value for advanced neoplasia, and the detection rate for advanced neoplasia. The FIT positivity rates were 4.1% for the sampling bottles and 2.0% for the conventional containers; these values were significantly different. The positive predictive values for advanced neoplasia in the sampling bottles and conventional containers were 11.1% (95% confidence interval [CI], -3.4 to 25.6) and 12.0% (95% CI, -0.7 to 24.7), respectively. The detection rates for advanced neoplasia in the sampling bottles and conventional containers were 4.5 per 1,000 persons (95% CI, 2.0 to 11.0) and 2.4 per 1,000 persons (95% CI, 0.0 to 5.0), respectively. The impact of these findings on FIT screening performance was unclear in this interim analysis. This impact should therefore be evaluated in the final analysis following the final enrollment period.

  18. [Maternal autoimmune thyroid disease: relevance for the newborn].

    Science.gov (United States)

    Temboury Molina, M Carmen; Rivero Martín, M José; de Juan Ruiz, Jesús; Ares Segura, Susana

    2015-04-08

    Autoimmune thyroid disease is amongst the most frequent endocrine disorders during pregnancy. It is associated with an increase in perinatal morbidity, congenital defects, neurological damage, fetal and neonatal thyroid dysfunction. Maternal thyroid hormones play a key role in child neurodevelopment. We aimed to evaluate the thyroid function and the clinical course of neonates born from mothers with autoimmune thyroid disease during the first months of life in order to define the follow-up. We monitored thyroid function and clinical status during the first months in 81 newborns of mothers with autoimmune thyroid disease; 16 had Graves disease and 65 autoimmune thyroiditis. A percentage of 4.93 newborns had congenital defects, and 8.64% neonates showed an increase in thyrotropin (TSH) (>9.5 μUI/mL 2 times) and required thyroxin within the first month of life. A 85.7% of these showed a negative newborn screening (due to a later increase of TSH). A higher TSH value in the newborn was related to an older age of the mother, higher levels of thyroid peroxidase (TPO) antibody during pregnancy and lower birth weight. A higher free thyroxine (FT4) value in the newborn was related to fewer days of life and mothers with Graves disease. We recommend the evaluation of TSH, T4 and TPO antibodies before 10 weeks in all pregnant women with follow-up if maternal thyroid autoimmunity or disorders is detected. It is also recommended to test children's serum TSH and FT4 at 48 h of life in newborns of mothers with autoimmune thyroid disease and repeat them between the 2nd and 4th week in children with TSH>6 μUI/mL. Careful endocrine follow-up is advised in pregnant women and children if hyperthyroidism is detected. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  19. [Tracheal phospholipid composition and respiratory distress syndrome of the newborn].

    Science.gov (United States)

    Obladen, M

    1979-03-01

    Tracheal or pharyngeal aspirates were collected in 50 newborn infants with and without respiratory distress syndrome (RDS). After lipid extraction the phospholipids were analyzed with 2-dimensional thin layer chromatography. Surface-active are lecithin (PC), phosphatidylglycerol (PG), and phosphatidylinositol (PI). Newborn infants with RDS always have a complete lack of PG, which makes up to 11% of phospholipid-phosphors in mature newborns. In all infants with and without RDS, a sharp increase of PC occurs in the lung effluent after birth. The recovery from RDS is characterized by marked changes of PI: this phospholipid rises up to twice its initial value if the infants survive. The PI-increase parallels the clinical improvement and reaches its maximum usually on the 5th day of life. At the time of the PI-peak, the infants' surfactant function is sufficient to maintain alveolar stability with spontaneous breathing. In infants dying from RDS the PI-increase was not observed.

  20. 十堰市2009年县乡级医疗机构新生儿甲状腺筛查分析%ANALYSIS AND STUDY OF NEWBORN CONGENITAL HYPOTHYROIDISM SCREENING IN SHIYAN

    Institute of Scientific and Technical Information of China (English)

    叶章宇; 纪宏先; 党洪霞

    2011-01-01

    [ Objective] To explore the morbidity and screen of congenital hypothyroidism (CH) in Shiyan in 2009, so as to find out a better way to guide future screening. [Methods] A drop of plantar blood from newboms 72 hours after delivery was obtained to put into a filter paper and dried to blood levels of TSH. All positive cases were called back for further diagnosis test. [Results] A total 29 231 cases were screened in Shiyan in 2009. Among which 11 cases were diagnosed as CH, the morbidity rate of CH was 0.69‰. The screening strategy in the women and children's hospital was related standard, and the activity in the county level hospital was related poor. The screening rate in each county is unequal, which was associated with transportation and economic income. [Conclusion] The CH morbidity in Shiyan is still higher than other cities. The government and women and children health care institutes at all leveLs should strengthen the construction and management of screening network of neonatal disease, extend screening coverage, enforce identification and therapy of the disease, reduce the occurrence of birth defect to improve the quality of the newhoms in Shiyan.%[目的]回顾十堰市各县乡级医疗机构对新生儿先天性甲状腺功能减低症(CH)1年来筛查情况,总结经验、查找不足,以提高新生几疾病筛查工作.[方法]各级医疗机构于新生儿出生72h后,采足跟末梢血制成滤纸干血片,送至我院筛查中心检测促甲状腺素(TSH)的浓度,筛查阳性,召回确诊,并对筛查数据进行汇总与分析.[结果]1年来,共筛查新生几29231例,确诊CH患儿11例,CH阳性率为0.6‰例,其中妇幼保健机构筛查比较规范,县级人民医院积极性相对较差,各县筛查率参差不齐,差异较大,与交通,经济收入关系不大.[结论]十堰市CH发病率处于全国平均水平,新生儿疾病筛查率仍有很大提高空间,各级政府部门和妇幼保健机构应加强新生儿疾病筛查网络

  1. Methylation analysis and HPV genotyping of self-collected cervical samples from women not responding to screening invitation and review of the literature

    Science.gov (United States)

    Del Mistro, Annarosa; Frayle, Helena; Rizzi, Martina; Fantin, Gianpiero; Ferro, Antonio; Angeletti, Paolo Matteo; Giorgi Rossi, Paolo; Altobelli, Emma

    2017-01-01

    Aim of the study To assess the feasibility of partial HPV genotyping and methylation analysis of CADM1, MAL, and miR124-2 genes as triage tests in assaying self-collected cervical samples positive for high-risk HPV on primary screening, and to review the literature regarding host cellular gene methylation analysis of self-collected cervical samples. Material and methods Women residing in North-East Italy who had failed to respond to the invitation to participate in an organized population-based program were invited to provide a self-sample. Their stored baseline (self-collected) and follow-up (clinician-collected) cervical samples were included in the study. DNA was extracted from HPV-positive (Qiagen’s Hybrid Capture 2, HC2) samples. Partial genotyping with separate detection of HPV types 16 and 18 was performed with a hybrid capture-based method and a quantitative PCR assay. Methylation was assayed with a quantitative methylation-specific PCR. Results High-risk HPV infection was detected in 48% of baseline and 71% of follow-up HC2-positive samples. Methylation was demonstrated respectively in 15% and 23.5% of baseline and follow-up samples and chiefly involved a single gene (miR124-2). Invalid quantitative PCR results were recorded in 5% of self-collected samples. The specificity of miR124-1, MAL, and CADM1 methylation was 84%, 94%, and 98%, respectively, and the specificity of the three markers combined was 84%. Sensitivity was not estimated due to the lack of CIN2+ samples. The systematic review showed that different methylation assays yield different accuracy values. Conclusion Self-collected samples are suitable for methylation assays included in reflex triage testing. The reproducibility and accuracy of the methylation tests described in the literature should be improved. PMID:28263992

  2. Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry

    Directory of Open Access Journals (Sweden)

    Guilherme Dotto Brand

    2013-11-01

    Full Text Available OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tandem mass spectrometry in dried blood spots, which offers considerable technical advantages compared with standard methodologies. We aimed to investigate whether the mass spectrometry methodology for lysosomal storage disease screening, originally developed for newborns, can also discriminate between affected patients and controls of various ages. METHODS: A total of 205 control individuals were grouped according to age and subjected to mass spectrometry quantification of lysosomal α-glucosidase, β-glucocerebrosidase, α-galactosidase, acid sphingomyelinase, galactocerebrosidase, and α−L-iduronidase activities. Additionally, 13 affected patients were analyzed. RESULTS: The median activities for each enzyme and each age group were determined. Enzyme activities were significantly lower in individuals aged older than 18 years compared with those in newborns. Affected patients presented enzymatic activities corresponding to less than 20% of the age-matched controls. CONCLUSIONS: Our data indicate that the mass spectrometry methodology can be used for the screening of lysosomal storage diseases in non-newborn patients. However, for some diseases, such as Fabry and mucopolysaccharidosis I, a combination of biochemical and clinical data may be necessary to achieve accurate diagnoses.

  3. Community air monitoring for pesticides. Part 3: using health-based screening levels to evaluate results collected for a year.

    Science.gov (United States)

    Wofford, Pamela; Segawa, Randy; Schreider, Jay; Federighi, Veda; Neal, Rosemary; Brattesani, Madeline

    2014-03-01

    The CA Department of Pesticide Regulation (CDPR) and the CA Air Resources Board monitored 40 pesticides, including five degradation products, in Parlier, CA, to determine if its residents were exposed to any of these pesticides and, if so, in what amounts. They included 1,3-dichloropropene, acrolein, arsenic, azinphos-methyl, carbon disulfide, chlorpyrifos and its degradation product, chlorthalonil, copper, cypermethrin, diazinon and its degradation product, dichlorvos, dicofol, dimethoate and its degradation product, diuron, endosulfan and its degradation product, S-ethyl dipropylcarbamothioate (EPTC), formaldehyde, malathion and its degradation product, methyl isothiocyanate (MITC), methyl bromide, metolachlor, molinate, norflurazon, oryzalin, oxyfluorfen, permethrin, phosmet, propanil, propargite, simazine, SSS-tributylphosphorotrithioate, sulfur, thiobencarb, trifluralin, and xylene. Monitoring was conducted 3 days per week for a year. Twenty-three pesticides and degradation products were detected. Acrolein, arsenic, carbon disulfide, chlorpyrifos, copper, formaldehyde, methyl bromide, MITC, and sulfur were detected in more than half the samples. Since no regulatory ambient air standards exist for these pesticides, CDPR developed advisory, health-based non-cancer screening levels (SLs) to assess acute, subchronic, and chronic exposures. For carcinogenic pesticides, CDPR assessed risk using cancer potency values. Amongst non-carcinogenic agricultural use pesticides, only diazinon exceeded its SL. For carcinogens, 1,3-dichloropropene concentrations exceeded its cancer potency value. Based on these findings, CDPR has undertaken a more comprehensive evaluation of 1,3-dichloropropene, diazinon, and the closely related chlorpyrifos that was frequently detected. Four chemicals-acrolein, arsenic, carbon disulfide, and formaldehyde-sometimes used as pesticides were detected, although no pesticidal use was reported in the area during this study. Their presence was most

  4. A matched-pair longitudinal study on the relationship between maternal smoking and head circumference of newborns.

    Science.gov (United States)

    Miyao, M; Furuta, M; Matsushita, Y; Ogiso, M; Ishihara, S; Teo, P C

    1995-02-01

    The relationship between maternal smoking and the head circumference of newborns were analyzed using a matched-pair longitudinal method. For the study, data was collected from Japanese primiparas in Aichi, Japan. Forty-seven smoking and nonsmoking mothers were matched using multivariate caliper matching for birth weight and gender for their newborns, and gestational period and age for the gravidas. Significantly smaller head circumferences of the newborns from the smoking mothers were observed.

  5. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.

    Science.gov (United States)

    Chace, Donald H; Kalas, Theodore A; Naylor, Edwin W

    2002-01-01

    This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes from one prepared blood specimen in a single analysis permits broad recognition of amino acid, fatty acid, and organic acid disorders. An increasing number of newborn screening programs are either utilizing or conducting pilot studies with tandem mass spectrometry. It is therefore imperative that the genetics community be familiar with tandem mass spectrometric newborn screening.

  6. The Prevalence and Clinical Study of Galactosemia Disease in a Pilot Screening Program of Neonates, Southern Iran

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    B Tarami

    2011-12-01

    Full Text Available Background: The aim of the study was to research concerning the epidemiology of newborns' galactosemia during 2007-2008 to find out whether screening was necessary for Iranian newborns or not and also what the symptoms of this disease before or after diet were.Methods: The data were collected from 24000 newborn babies from Fars Province, southern Iran. The enzymatic calori­metric test was done on their blood and Red questions from the children's parents. For treatment, free lactose milk or soya milk have been used for the feeding of the newborns. Results: The prevalence of galactosemia in Fars Province was 5:24000 in neonates, being more than those reported among the white race are and Asians are. The maximum clinical symptoms before diet in 10 days after birth were vomiting and jaundice and those after using diet were sepsis, full fontanels, and hepatic failure.Conclusion: Consanguineous marriage is a major cause of inheritance of the disease in Iran. The number of familial mar­riage in children's parents was very high. Screening should be executed for all of the families with a history of Galactosemia in Iran. To the best of our knowledge, this is the first large study report on the prevalence of Galactosemia in Iran.

  7. Screening in a Lactobacillus delbrueckii subsp. bulgaricus Collection to select a strain able to survive to the human intestinal tract

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    Clotilde Vázquez

    2013-08-01

    Full Text Available Objectives: Genetic diversity and resistance of Lactobacillus bulgaricus sbsp. delbrueckii collection with 100 isolates from different home-made yogurt in rural Bulgarian areas were determined. Methods: The strain K98 was the most resistant to bile salts and low pH. Survival and effects on short chain fatty acids production were tested in 20 healthy volunteers. High genetic diversity was observed in the L. bulgaricus collection by RAPD, whereas the ability of tolerate high deoxycholic acid concentrations, and different acid pHs was variable. The strain K98 was selected and used to prepare a homemade yogurt which was administered to 20 healthy volunteers (500 ml/day during 15d. A basal faecal sample and another after yogurt intake were recovered. Results: DGGE experiments, using both universal and Lactic Acid Bacteria (LAB primers, demonstrated no significant changes in the qualitative composition of gut microbiota. A band corresponding to L. bulgaricus was observed in all 20 samples. Viable L. bulgaricus K98 strain was only recovered in one volunteer. After yogurt intake we found an increase of LAB and Clostridium perfringens, and a decrease of Bacteroides-Prevotella-Porphyromonas. In addition, increases of acetic, butyric and 2-hydroxybutyric acids in faeces were detected. Conclusions: Genetic diversity of L. delbrueckii subsp. bulgaricus especie is high We have isolated a probiotic resistant strain to bile and high acidity, L. delbrueckii subsp. bulgaricus-K98. Qualitative and quantitative changes in the intestinal microbiota are found after ingestion of a homemade yogurt containing this strain, with a concomitant increase in faecal SCFA. Our findings support the interest in developing further studies providing different amounts of L. delbrueckii subsp. bulgaricus-K98, and should evaluate its clinical effects in human disease.

  8. Evaluation of Two Different Methods for Hemoglobin Screening of Blood Donors to Use in Mobile Blood Collection Team

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    Soner Yilmaz

    2014-10-01

    Full Text Available AIM: The aim of the study is to compared two point-of care hemoglobin concentration measuring devices with laboratory measurements to determine their accuracy in mobile blood collection conditions. This two devices were the Pronto-7 (Masimo Corp., Irvine,CA pulse co-oximeter and HemoCue Hb 201+ uses spectrophotometric method. METHODS: Blood samples were collected from 152 individuals. The samples were tested for total hemoglobin measurement by three different methods: noninvaziv pulse co-oximeter device Pronto-7, finger-stick blood sample on an automated spectrophotometric device HemoCue and venous samples on an automated hemotology analyzer (reference device RESULTS: According to the venous samples (mean Hb value is 14.6 g/dl, the mean hemoglobin levels were detected slightly higher in the fingerstick samples (mean Hb value is 15.1 g/dl and slightly lower in the pulse co-oximetry (mean Hb value is 14.1 g/dl. The sensivity of HemoCue, Pronto-7 was 97.7%, 81.6% and their specifity was 31.2% and %43.7, respectively. The positive predictive values (PPV of HemoCue and Pronto-7 were high (92.3% and 92.5%, respectively but both of their negative predictive values (NPV were low (62.5% and 21.8%, respectively. Of blood donors, 88.4% (138/152 percent were correctly classified with HemoCue and 78.2% were with Pronto-7. COCLUSION: Taking automated laboratory hemoglobin measurement as a reference, Pronto-7 gave lower readings for Hb value and was less accurate than the Hemo-Cue system [TAF Prev Med Bull 2014; 13(5.000: 391-394

  9. Vitamin K deficiency bleeding of the newborn

    Science.gov (United States)

    Vitamin K deficiency bleeding of the newborn (VKDB) is a bleeding disorder in babies. It most often ... A lack of vitamin K may cause severe bleeding in newborn babies. Vitamin K plays an important role in blood clotting. Babies often ...

  10. Diverse small molecule inhibitors of human apurinic/apyrimidinic endonuclease APE1 identified from a screen of a large public collection.

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    Dorjbal Dorjsuren

    Full Text Available The major human apurinic/apyrimidinic endonuclease APE1 plays a pivotal role in the repair of base damage via participation in the DNA base excision repair (BER pathway. Increased activity of APE1, often observed in tumor cells, is thought to contribute to resistance to various anticancer drugs, whereas down-regulation of APE1 sensitizes cells to DNA damaging agents. Thus, inhibiting APE1 repair endonuclease function in cancer cells is considered a promising strategy to overcome therapeutic agent resistance. Despite ongoing efforts, inhibitors of APE1 with adequate drug-like properties have yet to be discovered. Using a kinetic fluorescence assay, we conducted a fully-automated high-throughput screen (HTS of the NIH Molecular Libraries Small Molecule Repository (MLSMR, as well as additional public collections, with each compound tested as a 7-concentration series in a 4 µL reaction volume. Actives identified from the screen were subjected to a panel of confirmatory and counterscreen tests. Several active molecules were identified that inhibited APE1 in two independent assay formats and exhibited potentiation of the genotoxic effect of methyl methanesulfonate with a concomitant increase in AP sites, a hallmark of intracellular APE1 inhibition; a number of these chemotypes could be good starting points for further medicinal chemistry optimization. To our knowledge, this represents the largest-scale HTS to identify inhibitors of APE1, and provides a key first step in the development of novel agents targeting BER for cancer treatment.

  11. Diverse small molecule inhibitors of human apurinic/apyrimidinic endonuclease APE1 identified from a screen of a large public collection.

    Science.gov (United States)

    Dorjsuren, Dorjbal; Kim, Daemyung; Vyjayanti, Vaddadi N; Maloney, David J; Jadhav, Ajit; Wilson, David M; Simeonov, Anton

    2012-01-01

    The major human apurinic/apyrimidinic endonuclease APE1 plays a pivotal role in the repair of base damage via participation in the DNA base excision repair (BER) pathway. Increased activity of APE1, often observed in tumor cells, is thought to contribute to resistance to various anticancer drugs, whereas down-regulation of APE1 sensitizes cells to DNA damaging agents. Thus, inhibiting APE1 repair endonuclease function in cancer cells is considered a promising strategy to overcome therapeutic agent resistance. Despite ongoing efforts, inhibitors of APE1 with adequate drug-like properties have yet to be discovered. Using a kinetic fluorescence assay, we conducted a fully-automated high-throughput screen (HTS) of the NIH Molecular Libraries Small Molecule Repository (MLSMR), as well as additional public collections, with each compound tested as a 7-concentration series in a 4 µL reaction volume. Actives identified from the screen were subjected to a panel of confirmatory and counterscreen tests. Several active molecules were identified that inhibited APE1 in two independent assay formats and exhibited potentiation of the genotoxic effect of methyl methanesulfonate with a concomitant increase in AP sites, a hallmark of intracellular APE1 inhibition; a number of these chemotypes could be good starting points for further medicinal chemistry optimization. To our knowledge, this represents the largest-scale HTS to identify inhibitors of APE1, and provides a key first step in the development of novel agents targeting BER for cancer treatment.

  12. Uptake of community-based, self-collected HPV testing vs. visual inspection with acetic acid for cervical cancer screening in Kampala, Uganda: preliminary results of a randomised controlled trial.

    Science.gov (United States)

    Moses, Erin; Pedersen, Heather N; Mitchell, Sheona M; Sekikubo, Musa; Mwesigwa, David; Singer, Joel; Biryabarema, Christine; Byamugisha, Josaphat K; Money, Deborah M; Ogilvie, Gina S

    2015-10-01

    To compare two cervical cancer screening methods: community-based self-collection of high-risk human papillomavirus (HR-HPV) testing and visual inspection with acetic acid (VIA). Pilot randomised controlled trial of 500 women aged 30-65 in the community of Kisenyi, Uganda. Women randomised to self-collection-based HR-HPV testing provided a cervico-vaginal swab for HR-HPV, and results were provided by phone after laboratory testing. Women who tested HPV positive were referred for VIA at the local health unit. Women randomised to VIA underwent screening at the local health unit, where women who tested positive with VIA were provided cryotherapy at time of screening, as per local standard of care. Women were referred for colposcopy when indicated. Outcome measures were uptake of screening, HR-HPV prevalence, VIA result and treatment rates. In the HR-HPV arm, 248 of 250 (p < 0.01) women provided samples, while in the VIA arm, 121 of 250 (48.4%) women attended screening. Among the 73 of 248 HR-HPV-positive women, 45.2% (N = 33) attended VIA screening for follow-up, 21.2% (N = 7) of whom screened positive; five received treatment and two were missing clinical follow-up records. Of the 121 women in the VIA arm who attended screening, 13.2% (N = 16) screened positive; seven received cryotherapy, three refused treatment, five were referred to colposcopy; and one woman had suspected cervical cancer and received treatment after confirmatory testing. This pilot study demonstrated trial feasibility and willingness of the women to participate and be randomised successfully into the two arms. Self-collection-based cervical cancer screening had a higher uptake than VIA. © 2015 John Wiley & Sons Ltd.

  13. 42 CFR 435.117 - Newborn children.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Newborn children. 435.117 Section 435.117 Public..., Children Under 8, and Newborn Children § 435.117 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is receiving...

  14. Newborn physiological responses to noise in the neonatal unit,

    Directory of Open Access Journals (Sweden)

    Sandra Maria Schefer Cardoso

    2015-12-01

    Full Text Available ABSTRACT INTRODUCTION: The incorporation of technologies in the care of infants has contributed to increased survival; however, this has turned neonatal unit into a noisy environment. OBJECTIVE: To evaluate the physiological and functional effects resulting from the exposure to noise on low-weight newborns in incubators in a neonatal unit. METHODS: Prospective, observational, quantitative, exploratory, descriptive study. The adopted statistical method included tables of frequency, descriptive statistics, and Student's t-test, with a 0.05 level of significance. As data collection tools, the environmental noise and the noise inside of the incubator were evaluated, and the Assessment of Preterm Infant Behavior scale was used to assess premature newborn behavior and projected specifically to document the neurobehavioral functioning of preterm infants. The data collection occurred from September of 2012 to April of 2013; 61 low-weight newborns admitted in the neonatal unit and in incubators were observed. RESULTS: Significant differences in the variables heart rate and oxygen saturation were noted when newborns were exposed to noise. CONCLUSION: Low-weight neonates in incubators present physiological alterations when facing discomfort caused by environmental noise in neonatal units.

  15. Newborn physiological responses to noise in the neonatal unit.

    Science.gov (United States)

    Cardoso, Sandra Maria Schefer; Kozlowski, Lorena de Cássia; Lacerda, Adriana Bender Moreira de; Marques, Jair Mendes; Ribas, Angela

    2015-01-01

    The incorporation of technologies in the care of infants has contributed to increased survival; however, this has turned neonatal unit into a noisy environment. To evaluate the physiological and functional effects resulting from the exposure to noise on low-weight newborns in incubators in a neonatal unit. Prospective, observational, quantitative, exploratory, descriptive study. The adopted statistical method included tables of frequency, descriptive statistics, and Student's t-test, with a 0.05 level of significance. As data collection tools, the environmental noise and the noise inside of the incubator were evaluated, and the Assessment of Preterm Infant Behavior scale was used to assess premature newborn behavior and projected specifically to document the neurobehavioral functioning of preterm infants. The data collection occurred from September of 2012 to April of 2013; 61 low-weight newborns admitted in the neonatal unit and in incubators were observed. Significant differences in the variables heart rate and oxygen saturation were noted when newborns were exposed to noise. Low-weight neonates in incubators present physiological alterations when facing discomfort caused by environmental noise in neonatal units. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  16. Cardiotocography (CTG as the screening method of fetal condition assessment

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    V. Zulčić-Nakić

    2007-02-01

    Full Text Available A basic function of fetal monitoring is an analysis of fetal cardiac action. Cardiotocography (CTG cannot provide all necessary information for assessment of the fetal condition as it is not sufficiently reliable and gives a large number of false positive results that increase the number of cesarean sections. An objective of this work was to establish CTG reliability as a method for assessment of intrapartal fetal condition. Based on CTG parameters (baseline fetal heart rate, fetal heart rate variability, oscillations and decelerations 100 pathological CTG records, collected at Obstetrics and Gynecology Department of the Tuzla University Clinic Hospital from 01.12.2004 to 05.08.2005 were identified. Using binomial distribution they were classified as non-pathological (indicating absence of asphyxia and pathological (indicating possible presence of asphyxia. After the delivery the condition of newborns was assessed according to the Apgar score. Based on comparison between certain pathological parametres of CTG records and newborns’ conditions at birth the results indicated high positive predictive values whereas sensitivity and accuracy were low. Apgar score 1. from 7 upwards was given to 96 (96% newborns whereas Apgar score 2 from 7 upwards was given to all the newborns with previous pathological CTG records. Results have confirmed that CTG can be used only as a screening method for assessment of intrapartal fetal condition.

  17. Newborns' Mooney-Face Perception

    Science.gov (United States)

    Leo, Irene; Simion, Francesca

    2009-01-01

    The aim of this study is to investigate whether newborns detect a face on the basis of a Gestalt representation based on first-order relational information (i.e., the basic arrangement of face features) by using Mooney stimuli. The incomplete 2-tone Mooney stimuli were used because they preclude focusing both on the local features (i.e., the fine…

  18. Newborn with severe epidermolysis bullosa

    DEFF Research Database (Denmark)

    Boesen, Martin Lehmann; Bygum, Anette; Hertz, Jens Michael

    2016-01-01

    Epidermolysis bullosa (EB) is an inherited skin disease with four main subtypes that cannot be distinguished clinically at birth. All subtypes may present with widespread life-threatening blisters and fragile skin, making treatment and handling of the newborn with EB challenging. The prognosis...

  19. Screening for and treatments of congenital immunodeficiency diseases.

    Science.gov (United States)

    Verbsky, James; Routes, John

    2014-12-01

    Although newborn screening (NBS) for inborn errors of metabolism has been successfully utilized in the US for decades, only recently has this screening program expanded to include disorders of immunity. Severe combined immunodeficiency (SCID) became the first disorder of immunity to be screened on a population wide basis in 2008. While NBS for SCID has been successful, the implementation of population-based screening programs is not without controversy, and there remain barriers to the nationwide implementation of this test. In addition, as the program has progressed we have learned of new challenges in the management of newborns that fail this screen.

  20. Neonatal Screening for Severe Combined Immunodeficiency (SCID)

    Science.gov (United States)

    Puck, Jennifer M.

    2012-01-01

    Purpose of review Population-based newborn screening for severe combined immunodeficiency (SCID) and related disorders has been instituted in five states, with several more planning to add this testing to their newborn screening panels. This review summarizes the rationale, development, and implementation of SCID screening programs to date and highlights current and future challenges. Recent findings Early results of T-cell receptor excision circle (TREC) testing newborns in pilot states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. The TREC test has clinical validity and TRECs, as predicted, are an excellent biomarker of poor T-cell lymphocyte production in the thymus or increased lymphocyte loss resulting in T-cell lymphopenia. A variety of cases with typical SCID genotypes and other conditions have been detected in a timely manner and referred for appropriate early treatment. Summary Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. Routine screening of all newborns with the TREC test, implemented as part of an integrated public health program, can achieve pre-symptomatic diagnosis of SCID and other disorders with T-cell lymphopenia, allowing prompt and effective treatment and leading to a better understanding of the spectrum of these disorders and how to manage them. PMID:22001765

  1. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  2. The importance of the toxicological analysis in newborns: clearing the case of a tetralogy of Fallot with a paradoxical reaction to 1-hydroxymidazolam

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    Cristiano Ialongo

    2016-01-01

    Full Text Available Short half-life benzodiazepines like midazolam are used as premedication to relieve intra-partum pain, and are known to have no adverse effects to the newborn. However, such short-acting drugs are known to induce paradoxical reactions when their concentration is abnormally elevated respect to the age of the subject. In a 1 day-old newborn, admitted to the Cardiology Unit of the “Bambino Gesù” Children Hospital of Rome due to a prenatal diagnosis of tetralogy of Fallot, a paradoxical reaction with a spontaneous resolution was observed. The analysis of urines, performed by gas chromatography/mass spectrometry after a drug screening, showed the presence of the active metabolite 1-hydroxymidazolam at 9.7 µg/mL with no detectable trace of its precursor midazolam and of the alternative metabolite 4-hydroxymidazolam. On the basis of these evidences, we speculated that 1-hydroxymidazolam, produced by the mother’s liver enzymes, passed to the newborn whose reduced volume of distribution (for the shunted circulation favoured the onset of such a reaction. Hence, the toxicological approach should be carried out on both mother and child wherever the clinical picture may appear unexplainable or does not match with the other findings collected.

  3. A Versatile System for High-Throughput In Situ X-ray Screening and Data Collection of Soluble and Membrane-Protein Crystals

    Energy Technology Data Exchange (ETDEWEB)

    Broecker, Jana; Klingel, Viviane; Ou, Wei-Lin; Balo, Aidin R.; Kissick, David J.; Ogata, Craig M.; Kuo, Anling; Ernst, Oliver P.

    2016-10-12

    In recent years, in situ data collection has been a major focus of progress in protein crystallography. Here, we introduce the Mylar in situ method using Mylar-based sandwich plates that are inexpensive, easy to make and handle, and show significantly less background scattering than other setups. A variety of cognate holders for patches of Mylar in situ sandwich films corresponding to one or more wells makes the method robust and versatile, allows for storage and shipping of entire wells, and enables automated crystal imaging, screening, and goniometerbased X-ray diffraction data-collection at room temperature and under cryogenic conditions for soluble and membrane-protein crystals grown in or transferred to these plates. We validated the Mylar in situ method using crystals of the water-soluble proteins hen egg-white lysozyme and sperm whale myoglobin as well as the 7-transmembrane protein bacteriorhodopsin from Haloquadratum walsbyi. In conjunction with current developments at synchrotrons, this approach promises high-resolution structural studies of membrane proteins to become faster and more routine.

  4. Epidemiological and Clinical Study of Phenylketonuria (PKU Disease in the National Screening Program of Neonates, Fars Province, Southern Iran

    Directory of Open Access Journals (Sweden)

    S Senemar

    2009-06-01

    Full Text Available "nBackground: Classic phenylketonuria (PKU is a rare metabolic disorder that results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH. In this study, we researched about PKU epidemiological factors and health quality of patients after the neonatal screening program."nMethods: Neonatal screening for PKU was conducted by one neonatal screening center in Fars Province, in Shiraz Paramedical University. All Fars infants must refer only to this center, in which a heel prick blood sample  of each infant was collected at 72 hours postnatal on to standard filter paper and asked questions from the children's parent's and the doctor examined the patients receiving phenylalanine- free milk through examining the children's development. PKU was screened by Fluorometric method."nResults: Totally of 70477 newborns screened for PKU, 15- cases of PKU detected with an incidence of 1:4698. In "Eghlid", that is a city in Fars Province. The prevalence of the disease is 1:382 of newly born babies. The frequency of familial marriage in these children's parents is 86.6%. Twenty nine percent of them were observed among those who had married their close relatives. Mean rate of normal development in PKU patients was 95%."nConclusion: Consanguineous marriage is a major cause in that pattern particular in Iranian. The treatment of PKU after newborn screening is used. With special diet in above of 90% newborn is satisfactory. Now screening should be executed for all of family that they have familial history of PKU in Iran.

  5. Hitting the target: fragment screening with acoustic in situ co-crystallization of proteins plus fragment libraries on pin-mounted data-collection micromeshes

    Energy Technology Data Exchange (ETDEWEB)

    Yin, Xingyu [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Stony Brook University, NY 11794-5215 (United States); Nanjing University, Nanjing, Jiangsu (China); Scalia, Alexander [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Binghamton University, 4400 Vestal Parkway East, NY 13902 (United States); Leroy, Ludmila [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Ministry of Education of Brazil, 70040-020 Brasilia-DF (Brazil); Universidade Federal de Minas Gerais, 6627 Av. Antonio Carlos, 31270-901 Belo Horizonte-MG (Brazil); Cuttitta, Christina M. [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); The City University of New York, 2800 Victory Boulevard, Staten Island, NY 10314 (United States); Polizzo, Gina M. [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); St Joseph’s College, 155 West Roe Boulevard, East Patchogue, NY 11772 (United States); Ericson, Daniel L. [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); University at Buffalo, SUNY, 12 Capen Hall, Buffalo, NY 14260 (United States); Roessler, Christian G. [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Campos, Olven [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Florida Atlantic University, 777 Glades Road, Boca Raton, FL 33414 (United States); Ma, Millie Y. [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Comsewogue High School, 565 Bicycle Path, Port Jefferson Station, NY 11776 (United States); Agarwal, Rakhi; Jackimowicz, Rick; Allaire, Marc [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Orville, Allen M. [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Brookhaven National Laboratory, Upton, NY 11973-5000 (United States); Sweet, Robert M.; Soares, Alexei S., E-mail: soares@bnl.gov [Brookhaven National Laboratory, Upton, NY 11973-5000 (United States)

    2014-05-01

    A method is presented for screening fragment libraries using acoustic droplet ejection to co-crystallize proteins and chemicals directly on micromeshes with as little as 2.5 nl of each component. This method was used to identify previously unreported fragments that bind to lysozyme, thermolysin, and trypsin. Acoustic droplet ejection (ADE) is a powerful technology that supports crystallographic applications such as growing, improving and manipulating protein crystals. A fragment-screening strategy is described that uses ADE to co-crystallize proteins with fragment libraries directly on MiTeGen MicroMeshes. Co-crystallization trials can be prepared rapidly and economically. The high speed of specimen preparation and the low consumption of fragment and protein allow the use of individual rather than pooled fragments. The Echo 550 liquid-handling instrument (Labcyte Inc., Sunnyvale, California, USA) generates droplets with accurate trajectories, which allows multiple co-crystallization experiments to be discretely positioned on a single data-collection micromesh. This accuracy also allows all components to be transferred through small apertures. Consequently, the crystallization tray is in equilibrium with the reservoir before, during and after the transfer of protein, precipitant and fragment to the micromesh on which crystallization will occur. This strict control of the specimen environment means that the crystallography experiments remain identical as the working volumes are decreased from the few microlitres level to the few nanolitres level. Using this system, lysozyme, thermolysin, trypsin and stachydrine demethylase crystals were co-crystallized with a small 33-compound mini-library to search for fragment hits. This technology pushes towards a much faster, more automated and more flexible strategy for structure-based drug discovery using as little as 2.5 nl of each major component.

  6. Hepatitis B virus infection status in the PBMC of newborns of HBsAg positivemothers

    Institute of Scientific and Technical Information of China (English)

    Su Ping Wang; De Zhong Xu; Yong Ping Yah; Meng Yuan Shi; Ru Lin Li; Jing Xia Zhang; Gang Zuan Bai; Jian Xin Ma

    2000-01-01

    AIM To study the hepatitis B virus (HBV) status in peripheral blood mononuclear cells (PBMC) and itsrelationship with serum HBV infection in newborns of hepatitis B surface antigen (HBsAg) positive mothers.METHODS Blood specimens were collected by femoral puncture from newborns of HBsAg positive motherswithin 24 hours after birth between February, 1997 and May, 1998. All sera were examined for HBV DNAand HBsAg by nested polymerase chain reaction (nPCR) and enzyme-linked immunosorbent assay (ELISA).PBMC were separated from above blood specimen of newborns. Fifty-five FBMC smear of newborns wereobtained whose sera were HBV DNA positive and 38 PBMC smear were randomly selected from newbornswhose'sera were HBV DNA negative. These Ninety-three smear of newborns' PBMC at birth were detectedfor HBV DNA by in situ polymerase chain reaction (IS PCR) and in situ hybridization (ISH) using digoxin-labelled HBV DNA probe.RESULTS Twenty-seven (49.09%) out of 55 HBV DNA positive newborns sera had HBV DNA in PBMCand 4 (10.53%) out of 38 HBV DNA negative newborns sera were detected for HBV DNA in their PBMC byISH. Sixty-two HBV DNA negative newborns PBMC by ISH were examined for HBV DNA by IS PCR. Ten(35.71%) out of 28 HBV DNA positive newborns sera had HBV DNA in their PBMC. Two (5.88%) out of 34 HBV DNA negative newborns sera were found HBV DNA in their PBMC. Total positive rates of PBMCHBV DNA (by ISH and/or IS PCR) were 67.27% (37/55) in those newborns with HBV DNA positive seraand 15.79% (6/38) in those newborns with HBV DNA negative sera.CONCLUSION HBV DNA in PBMC were found in most of newborns who had HBV DNA positive sera.But HBV DNA in PBMC also were positive in some of newborns who were negative for HBV DNA in theirsera at birth. It suggests that intrauterine HBV infection may be demonstrated only by HBV infection intheir PBMC and should be served as diagnosis index for intrauterine HBV infection. HBV infection in PBMCmay play some role in HBV intrauterine infection and

  7. [THE COMPARATIVE CHARACTERISTIC OF KAOLIN-ACTIVATED THROMBOELASTOGRAPHY IN HEALTHY NEWBORNS AND NEWBORNS WITH HEART AILMENTS].

    Science.gov (United States)

    Leonov, N P; Karas'kov, A M; Litasova, E E; Strunin, O V; Karmadonova, N A; Akopov, G D; Vishegorodtseva, L I

    2016-02-01

    The study was carried out to diferentiate reference values for kaolin-activated thromboelastography in newborns with congenital heart disease. The study included two groups ofpatients. The first one consisted of 62 newborns with congenital heart disease and the second one consisted of 35 healthy newborns. The results of kaolin-activated thromboelastography implemented in groups are evaluated as condition of normal coagulation. The valuable diferences of homeostasis system in healthy newborns and newborns with congenital heart disease (without severe concomitant pathology) are not established. They have similar indicators of kaolin-activated thromboelastography. The derived results can be applied as standards in full-term newborns with congenital heart disease.

  8. [Pain in newborns and children].

    Science.gov (United States)

    Plaja, Francesca; Alesi, Mt

    2004-01-01

    Pain is a mechanism of defense in response to damaged tissue in order to determine a response to remove the cause of damage. Attention to pain control is considered a quality index in the pediatric care newborn infants react to pain with changes in cardiac and respiratory rate, blood pressure, blood gas, grimace, palm sweating, crying, sleep/awake rythm. Measuring pain in child is based on: history of the child, changes in behaviour adn vital parameters. Being able to explain pain depends on cognitive and language ability of the child. The role of the nurse who attend the newborn infant in the neonatal intensive care unit is to help baby to cope with acute pain by means of simple manoeuvres like wrapping, non nutritive suction, massage, tactile stimulation.

  9. Congenital epulis of the newborn

    Directory of Open Access Journals (Sweden)

    R Mahesh Kumar

    2015-01-01

    Full Text Available Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day.

  10. Late hemorrhagic disease of newborn.

    Science.gov (United States)

    D'Souza, I E; Rao, S D Subba

    2003-03-01

    The clinical features of 14 infants diagnosed with late hemorrhagic disease of newborn (LHDN), of which 10 did not receive vitamin K prophylaxis, are presented. All infants were exclusively breast-fed and 12 did not have any underlying illness to explain the abnormal coagulation profile. The common presenting symptoms were seizures (71%), vomiting (57%), poor feeding (50%) and altered sensorium (36%). Physical examination shared pallor in all infants and a bulging anterior fontanel in 64%. Intracranial bleed was the predominant manifestation (93%), with CT scan showing intracranial bleed in 78%. Eight infants (57%) succumbed to their illness, while 36%had neurological sequelae. Since LHDN leads to significant morbidity and mortality, it should be prevented by providing vitamin K prophylaxis to all newborns.

  11. [Congenital ranula in a newborn].

    Science.gov (United States)

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  12. 77 FR 47857 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Science.gov (United States)

    2012-08-10

    ... the Department of Health and Human Services with the development of newborn screening activities... the economics of genomic medicine; (4) reports on the continued work of the Advisory Committee's subcommittees on Laboratory Standards and Procedures, Follow-up and Treatment, and Education and Training; (5...

  13. PHENYLKETONURIA, DETECTION IN THE NEWBORN INFANT AS A ROUTINE HOSPITAL PROCEDURE.

    Science.gov (United States)

    GUTHRIE, ROBERT; WHITNEY, STEWART

    A FIELD TRIAL OF AN INHIBITION ASSAY METHOD FOR SCREENING FOR PHENYLKETONURIA (PKU) TESTED MORE THAN 400,000 NEWBORN INFANTS PRIOR TO DISCHARGE FROM THE HOSPTIAL. IN ALL, 39 CASES WERE FOUND, A HIGHER INCIDENCE THAN HAD PREVIOUSLY BEEN EXPECTED. THE PRACTICALITY OF THE INHIBITION ASSAY METHOD WAS ALSO DEMONSTRATED. THE REPORT DETAILS THE TRIAL'S…

  14. Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico

    Directory of Open Access Journals (Sweden)

    María del Rosario Torres-Sepúlveda

    2008-06-01

    Full Text Available OBJETIVO: Instituir un programa estatal de tamizaje neonatal ampliado para identificar errores innatos del metabolismo y determinar su prevalencia en la población de recién nacidos del estado de Nuevo León. MATERIAL Y MÉTODOS: Entre marzo de 2002 y febrero de 2004 se incluyeron neonatos consecutivos nacidos en hospitales públicos del estado. Se colectaron muestras de sangre en papel filtro entre las 24 y 48 horas de vida y se las sometió a tamiz metabólico mediante espectrometría de masas en tándem. RESULTADOS: Se analizaron 42 264 primeras muestras y se detectaron siete casos, uno de cada padecimiento: homocistinuria, fenilcetonuria, citrulinemia, tirosinemia/transitoria, deficiencia de 3-metilcrotonil-CoA carboxilasa, deficiencia de 3-hidroxi-3-metilglutaril-CoA liasa y galactosemia típica. CONCLUSIONES: La incidencia acumulada de defectos metabólicos en la población fue de 1:5 000 con 0.22% de casos falso-positivos. El programa permitió identificar y tratar con oportunidad los trastornos metabólicos al nacimiento con una efectiva prevención secundaria del retraso mental.OBJECTIVE: To initiate a statewide expanded metabolic screening program in neonates with the purpose of identifying the most common inborn errors of metabolism. MATERIAL AND METHODS: From March 2002 through February 2004, a blood sample was obtained between 24 and 48 hours after delivery from every consecutive child born in public hospitals in Nuevo León. It was spotted on filter paper and analyzed by tandem mass spectrometry for expanded metabolic screening. RESULTS: A total of 42 264 samples were analyzed. Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. CONCLUSIONS: The estimated incidence of inborn errors of metabolism is 1:5 000, with a false positive rate

  15. Newborn healthcare in urban India

    Science.gov (United States)

    Sharma, J; Osrin, D; Patil, B; Neogi, S B; Chauhan, M; Khanna, R; Kumar, R; Paul, V K; Zodpey, S

    2016-01-01

    The rapid population growth in urban India has outpaced the municipal capacity to build essential infrastructures that make life in cities safe and healthy. Local and national governments alike are grappling with the challenges of urbanization with thousands migrating from villages to cities. Thus, urbanization in India has been accompanied by a concentration of poverty and urban public healthcare has emerged as one of the most pressing priorities facing our country. Newborn mortality rates in urban settings are lower than rural areas, early neonatal deaths account for greater proportion than late neonatal deaths. The available evidence suggests that socio-economic inequalities and poor environment pose major challenges for newborn health. Moreover, fragmented and weak public health system, multiplicity of actors and limited capacity of public health planning further constrain the delivery of quality and affordable health care service. Though healthcare is concentrated in urban areas, delay in deciding to seek health care, reaching a source of it and receiving appropriate care affects the health outcomes disproportionately. However, a few city initiatives and innovations piloted in different states and cities have brought forth the evidences of effectiveness of different strategies. Recently launched National Urban Health Mission (NUHM) provides an opportunity for strategic thinking and actions to improve newborn health outcomes in India. There is also an opportunity for coalescence of activities around National Health Mission (NHM) and Reproductive, Maternal, Newborn and Child Health+Adolescent (RMNCH+A) strategy to develop feasible and workable models in different urban settings. Concomitant operational research needs to be carried out so that the obstacles, approaches and response to the program can be understood. PMID:27924107

  16. Transfer of Maternal Immunity to Newborns of Diabetic Mothers

    OpenAIRE

    2012-01-01

    This study was carried out with hyperglycemic pregnant women to investigate the transfer of antibody classes to newborns across the placenta or by colostrum and the functional activity of phagocytes in maternal blood, cord blood, and colostrum from diabetes mothers. Samples from maternal blood, cord blood, and colostrum were collected from 20 normoglycemic and 20 hyperglycemic pregnant women. We determined antibodies levels, superoxide release, phagocytosis and bactericidal activity of phagoc...

  17. Roles and Responsibilities in Newborn Care in four African Sites.

    OpenAIRE

    Iganus, R.; Hill, Z.; Manzi, F; Bee, M.; Amare, Y.; Shamba, D; Odebiyi, A.; Adejuyigbe, E.; Omotara, B.; Skordis-Worrall, J

    2015-01-01

    Objectives. To explore roles and responsibilities in newborn care in the intra- and postpartum period in Nigeria, Tanzania and Ethiopia. Methods. Qualitative data were collected using in-depth interviews with mothers, grandmothers, fathers, health workers and birth attendants and were analysed through content and framework analyses. Results. We found that birth attendants were the main decision-makers and care takers in the intrapartum period. Birth attenda...

  18. 罕見疾病(先天代謝疾病)新生兒篩檢政策之探討⎯⎯篩檢原則與父母醫療決定權之衡平 Newborn Baby Screening for Rare Disease: Children’s Best Interest and the Parental Right of Decision

    Directory of Open Access Journals (Sweden)

    劉兆菊 Chao-Chu Liu

    2008-12-01

    Full Text Available 在生命孕育的奇妙過程當中,小寶貝的健康,是每位父母最大的盼望。人體內三萬多個基因藉由DNA 的複製代代相傳,其中倘有基因發生變異,就可能在生命傳承時,把有缺陷的基因帶給子女,造成遺傳性的罕見疾病的產生。自2001 年7 月1 日起,行政院衛生署積極推動「第二代新生兒篩檢」,透過Tandem Mass 串聯質譜儀來分析人體各種代謝產物,只要一滴血,就可以發現26 種代謝異常疾病。由於新生兒篩檢的受試者是新生兒,須賴其父母作成意思表示。然而,新生兒先天代謝疾病之篩檢屬於遺傳篩檢的一種,所得知之資訊關係到整個家庭、家族成員,當篩檢出結果發覺無有效之醫學介入,此際,新生兒無法直接受益於篩檢之結果,但其資訊將助益於家庭成員就其健康及生涯規劃之選擇及安排時,父母親是否有權為相關的篩檢做同意?本文將以篩檢是否符合成本效益及是否存在有效之醫學介入等情事,以針對父母的決定權行使及限制之範疇為進一步之探討。再者,罕見疾病因其遺傳性與長期病程等特性,主管機關及民間社團可透過講座、團體互動及實務操作,提供病友及家屬更多元的專業知識,讓照顧的技巧、生活的品質因此而獲得具體的改善。 In the wonderful course of pregnancy, baby’s health is each parent’s greatest hope. More than 30,000 genes are passed down from one generation to another by the replication of DNA in the human body. If there are abnormal genes occurred or copied in the course of replication, it may bring defective genes to children and cause genetic rare disease. Since July 1st., 2001, the National Health Administration of the Executive Yuan proactively promotes “the second generation’s screening for newborn baby”, which analyzes various metabolism in human body through Tandem Mass

  19. Hitting the target: fragment screening with acoustic in situ co-crystallization of proteins plus fragment libraries on pin-mounted data-collection micromeshes.

    Science.gov (United States)

    Yin, Xingyu; Scalia, Alexander; Leroy, Ludmila; Cuttitta, Christina M; Polizzo, Gina M; Ericson, Daniel L; Roessler, Christian G; Campos, Olven; Ma, Millie Y; Agarwal, Rakhi; Jackimowicz, Rick; Allaire, Marc; Orville, Allen M; Sweet, Robert M; Soares, Alexei S

    2014-05-01

    Acoustic droplet ejection (ADE) is a powerful technology that supports crystallographic applications such as growing, improving and manipulating protein crystals. A fragment-screening strategy is described that uses ADE to co-crystallize proteins with fragment libraries directly on MiTeGen MicroMeshes. Co-crystallization trials can be prepared rapidly and economically. The high speed of specimen preparation and the low consumption of fragment and protein allow the use of individual rather than pooled fragments. The Echo 550 liquid-handling instrument (Labcyte Inc., Sunnyvale, California, USA) generates droplets with accurate trajectories, which allows multiple co-crystallization experiments to be discretely positioned on a single data-collection micromesh. This accuracy also allows all components to be transferred through small apertures. Consequently, the crystallization tray is in equilibrium with the reservoir before, during and after the transfer of protein, precipitant and fragment to the micromesh on which crystallization will occur. This strict control of the specimen environment means that the crystallography experiments remain identical as the working volumes are decreased from the few microlitres level to the few nanolitres level. Using this system, lysozyme, thermolysin, trypsin and stachydrine demethylase crystals were co-crystallized with a small 33-compound mini-library to search for fragment hits. This technology pushes towards a much faster, more automated and more flexible strategy for structure-based drug discovery using as little as 2.5 nl of each major component.

  20. The Relationship between Maternal Plasma Leptin and Adiponectin Concentrations and Newborn Adiposity

    Directory of Open Access Journals (Sweden)

    Natália P. Castro

    2017-02-01

    Full Text Available Increased maternal blood concentrations of leptin and decreased adiponectin levels, which are common disturbances in obesity, may be involved in offspring adiposity by programming fetal adipose tissue development. The aim of this study was to assess the relationship between maternal leptin and adiponectin concentrations and newborn adiposity. This was a cross-sectional study involving 210 healthy mother-newborn pairs from a public maternity hospital in São Paulo, Brazil. Maternal blood samples were collected after delivery and leptin and adiponectin concentrations were measured by enzyme-linked immunosorbent assay. Newborn body composition was estimated by air displacement plethysmography. The association between maternal leptin and adiponectin concentrations and newborn adiposity (fat mass percentage, FM% was evaluated by multiple linear regression, controlling for maternal age, socioeconomic status, parity, pre-pregnancy body mass index (BMI, weight gain, gestational age, and newborn age at the time of measurement. No relationship was found between maternal leptin and FM% of male or female newborn infants. Maternal adiponectin (p = 0.001 and pre-pregnancy BMI (p < 0.001; adj. R2 = 0.19 were positively associated with FM% of newborn males, indicating that maternal adiponectin is involved in fetal fat deposition in a sex-specific manner. Large-scale epidemiological, longitudinal studies are necessary to confirm our results.

  1. The Relationship between Maternal Plasma Leptin and Adiponectin Concentrations and Newborn Adiposity.

    Science.gov (United States)

    Castro, Natália P; Euclydes, Verônica V; Simões, Fernanda A; Vaz-de-Lima, Lourdes R A; De Brito, Cyro A; Luzia, Liania A; Devakumar, Delan; Rondó, Patrícia H C

    2017-02-23

    Increased maternal blood concentrations of leptin and decreased adiponectin levels, which are common disturbances in obesity, may be involved in offspring adiposity by programming fetal adipose tissue development. The aim of this study was to assess the relationship between maternal leptin and adiponectin concentrations and newborn adiposity. This was a cross-sectional study involving 210 healthy mother-newborn pairs from a public maternity hospital in São Paulo, Brazil. Maternal blood samples were collected after delivery and leptin and adiponectin concentrations were measured by enzyme-linked immunosorbent assay. Newborn body composition was estimated by air displacement plethysmography. The association between maternal leptin and adiponectin concentrations and newborn adiposity (fat mass percentage, FM%) was evaluated by multiple linear regression, controlling for maternal age, socioeconomic status, parity, pre-pregnancy body mass index (BMI), weight gain, gestational age, and newborn age at the time of measurement. No relationship was found between maternal leptin and FM% of male or female newborn infants. Maternal adiponectin (p = 0.001) and pre-pregnancy BMI (p < 0.001; adj. R² = 0.19) were positively associated with FM% of newborn males, indicating that maternal adiponectin is involved in fetal fat deposition in a sex-specific manner. Large-scale epidemiological, longitudinal studies are necessary to confirm our results.

  2. Ultrasonography of hydronephrosis in the newborn: A practical review

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Young Hun; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One [Dept. of Radiology, Seoul National University College of Medicine, Seoul National University Children' s Hospital, Seoul (Korea, Republic of)

    2016-07-15

    Widespread use of fetal ultrasonography is accompanied by more frequent detection of antenatal hydronephrosis. Therefore, sonographic evaluation of neonates with a history of antenatal hydronephrosis is becoming more widespread. As an initial postnatal non-invasive imaging modality, ultrasonography is used to screen for persistence of hydronephrosis, determine the level and severity of obstruction, and contribute to appropriate diagnosis and treatment. This review aims to provide a practical overview of the sonographic evaluation of neonatal hydronephrosis and to describe the sonographic findings of conditions associated with hydronephrosis in the newborn.

  3. Transcutaneous bilirubinometry in the newborn infant: state of the art.

    Science.gov (United States)

    Hegyi, T

    1986-01-01

    Hyperbilirubinemia in the newborn infant continues to challenge physicians. Clinical evaluation and treatment have evolved well-established principles over the past decade. This review examines neonatal bilirubin metabolism and focuses on a recently developed clinical diagnostic tool, the transcutaneous bilirubinometer. In spite of some limitations, the transcutaneous bilirubinometer can be best applied as a screening tool to identify healthy full-term infants who require serum bilirubin determination. With proper application, this device can eliminate most invasive diagnostic testing. Optimal use of the instrument requires the relationship between the serum bilirubin concentration and the transcutaneous bilirubinometer index to be determined for each device, institution, and population.

  4. Hospital stay for healthy term newborn infants.

    Science.gov (United States)

    Benitz, William E

    2015-05-01

    The hospital stay of the mother and her healthy term newborn infant should be long enough to allow identification of problems and to ensure that the mother is sufficiently recovered and prepared to care for herself and her newborn at home. The length of stay should be based on the unique characteristics of each mother-infant dyad, including the health of the mother, the health and stability of the newborn, the ability and confidence of the mother to care for herself and her newborn, the adequacy of support systems at home, and access to appropriate follow-up care in a medical home. Input from the mother and her obstetrical care provider should be considered before a decision to discharge a newborn is made, and all efforts should be made to keep a mother and her newborn together to ensure simultaneous discharge. Copyright © 2015 by the American Academy of Pediatrics.

  5. 基于MiniGUI的触摸屏多点采集校准算法%Arithmetic of Touch Screen Multi-points Collection Based on MiniGUI

    Institute of Scientific and Technical Information of China (English)

    向昱丞; 高洁

    2011-01-01

    为实现触摸屏的精确校准,提出一种在嵌入式Linux系统下基于MiniGUI的触摸屏多点采集校准算法.该方法利用MiniGUI定时器消息和鼠标消息,在一般校屏程序中只需采集5个基本目标点,将每个目标点的取值都细化为多个光标点运算处理.通过多点数据的采集、比较及处理,能够较精确地校准触摸屏.结果表明,该算法能提高取值的准确性,减少取值过程中的误操作.%For realize the precise adjustment of touch screen, introduce algorithm of touch screen multi-points collection based on MiniGUI in embedded Linux system. The algorithm use MiniGUI timer information and mouse information.Adopt 5 basic object points in screen adjustment program, and value collection of every objection point is divided into multi cursor point's calculation. Through multi-point data collection, comparison and processing, the touch screen can precisely adjust. The result shows that the algorithm can collect more correct value, and less error operations in processing.

  6. Can the exceptional chilling tolerance of C4 photosynthesis found in Miscanthus × giganteus be exceeded? Screening of a novel Miscanthus Japanese germplasm collection.

    Science.gov (United States)

    Głowacka, Katarzyna; Jørgensen, Uffe; Kjeldsen, Jens B; Kørup, Kirsten; Spitz, Idan; Sacks, Erik J; Long, Stephen P

    2015-05-01

    A clone of the hybrid perennial C4 grass Miscanthus × giganteus (Mxg) is known for achieving exceptionally high rates of leaf CO2 uptake during chilling. This is a requisite of success in the early spring, as is the ability of the leaves to survive occasional frosts. The aim of this study was to search for genotypes with greater potential than Mxg for photosynthesis and frost survival under these conditions. A total of 864 accessions representing 164 local populations of M. sacchariflorus (Msa), M. sinensis (Msi) and M. tinctorius (Mti) collected across Japan were studied. Accessions whose leaves survived a natural late frost in the field were screened for high maximum photosystem II efficiency (Fv/Fm) following chilling weather, as an indicator of their capacity for light-limited photosynthesis. Those showing the highest Fv/Fm were transferred to a high-light-controlled environment and maintained at chilling temperatures, where they were further screened for their capacities for high-light-limited and light-saturated leaf uptake of CO2 (ΦCO2,max and Asat, respectively). For the first time, relatives of Mxg with significantly superior capacities for photosynthesis at chilling temperatures were identified. Msa accession '73/2' developed leaves in the spring that survived night-time frost, and during growth under chilling maintained a statistically significant 79 % higher ΦCO2,max, as a measure of light-limited photosynthesis, and a 70 % higher Asat, as a measure of light-saturated photosynthesis. A second Msa accession, '73/3' also showed significantly higher rates of leaf uptake of CO2. As remarkable as Mxg has proved in its chilling tolerance of C4 photosynthesis, this study shows that there is still value and potential in searching for yet more superior tolerance. Msa accession '73/2' shows rates of light-limited and light-saturated photosynthesis at chilling temperatures that are comparable with those of the most cold-tolerant C3 species. This adds

  7. Enteral Nutrition and Care of Risky Newborns

    Directory of Open Access Journals (Sweden)

    Ebru Kilicarslan Toruner

    2013-09-01

    Full Text Available Making appropriate and effective enteral feeding is decreasing the morbidity and mortality rates of risky newborns. Most important problems during enteral feeding in risky newborns are realizing the enteral feeding needs late, not following enteral feeding protocols and errors in medical practices (misconnections etc.. The aim of this review article is to describe the gastrointestinal development, nutrition requirements, enteral nutrition, feeding intolerance and care of risky newborns. Increasing the awareness of health care professionals about this topic is promoted the quality of care in risky newborns. [J Contemp Med 2013; 3(3.000: 227-233

  8. Large number discrimination in newborn fish.

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    Laura Piffer

    Full Text Available Quantitative abilities have been reported in a wide range of species, including fish. Recent studies have shown that adult guppies (Poecilia reticulata can spontaneously select the larger number of conspecifics. In particular the evidence collected in literature suggest the existence of two distinct systems of number representation: a precise system up to 4 units, and an approximate system for larger numbers. Spontaneous numerical abilities, however, seem to be limited to 4 units at birth and it is currently unclear whether or not the large number system is absent during the first days of life. In the present study, we investigated whether newborn guppies can be trained to discriminate between large quantities. Subjects were required to discriminate between groups of dots with a 0.50 ratio (e.g., 7 vs. 14 in order to obtain a food reward. To dissociate the roles of number and continuous quantities that co-vary with numerical information (such as cumulative surface area, space and density, three different experiments were set up: in Exp. 1 number and continuous quantities were simultaneously available. In Exp. 2 we controlled for continuous quantities and only numerical information was available; in Exp. 3 numerical information was made irrelevant and only continuous quantities were available. Subjects successfully solved the tasks in Exp. 1 and 2, providing the first evidence of large number discrimination in newborn fish. No discrimination was found in experiment 3, meaning that number acuity is better than spatial acuity. A comparison with the onset of numerical abilities observed in shoal-choice tests suggests that training procedures can promote the development of numerical abilities in guppies.

  9. Lead Level in Umbilical Cord Blood and its Effects on Newborns Anthropometry.

    Science.gov (United States)

    Neda, Akbari-Nassaji; Fahimeh, Sabeti; Tahereh, Ziaei Kajbaf; Leila, Fakharzadeh; Zahra, Nazari; Bahman, Cheraghian; Narges, Cham Kouri

    2017-06-01

    High concentration of blood lead is accompanied by adverse health effects on growth of foetus and the newborn. The aim of this study was to determine umbilical cord blood lead level and its relationship with birth weight, length and head circumference of the newborns in Abadan, Iran. In this cross-sectional study, 3 ml blood was collected from the umbilical cord vein in 147 newborns, immediately after the birth. Blood lead was measured using atomic absorption spectrophotometry. Data collection instruments included demographic questionnaire (age of mother, gestational age, newborn gender, job and education of mother) and also data registration form (umbilical cord blood lead concentration, weight, length, and head circumference of newborn). Data was analyzed with SPSS software version 16.0. The mean of umbilical cord blood lead was determined 0.65±0.32 µg/dl (0.3-1.35 µg/dl). The decrease of birth weight with increased blood lead level was small and was not statistically significant. There was reverse significant correlation between umbilical cord blood lead level and birth length and head circumference. There was no significant correlation between blood lead and other variables such as age, weight, education and job of mother and gestational age. Umbilical blood lead level was determined umbilical cord blood lead caused decreasing birth weight, length and head circumference of the newborns.

  10. Transient hyperechogenicity of the renal medullary pyramids: incidence in the healthy term newborn.

    Science.gov (United States)

    Khoory, B J; Andreis, I A; Vino, L; Fanos, V

    1999-01-01

    A screening program was performed on 1881 clinically healthy term newborns, aimed at detecting eventual pathological conditions not diagnosed during pregnancy. Seventy-three cases of transient hyperechogenicity of the renal medullary pyramids were observed, involving one or both kidneys with either sectorial or diffuse pattern. None of the neonates examined had evidence of renal dysfunction and follow-up ultrasound scans demonstrated complete resolution of the sonographic picture. Medullary hyperechogenicity is not rare in healthy term newborns (3.9%); it presents rapid resolution and should be considered in differential diagnosis of pathological conditions.

  11. Newborn infants perceive abstract numbers.

    Science.gov (United States)

    Izard, Véronique; Sann, Coralie; Spelke, Elizabeth S; Streri, Arlette

    2009-06-23

    Although infants and animals respond to the approximate number of elements in visual, auditory, and tactile arrays, only human children and adults have been shown to possess abstract numerical representations that apply to entities of all kinds (e.g., 7 samurai, seas, or sins). Do abstract numerical concepts depend on language or culture, or do they form a part of humans' innate, core knowledge? Here we show that newborn infants spontaneously associate stationary, visual-spatial arrays of 4-18 objects with auditory sequences of events on the basis of number. Their performance provides evidence for abstract numerical representations at the start of postnatal experience.

  12. Unusual osteopathy in a newborn

    Energy Technology Data Exchange (ETDEWEB)

    Jequier, S.; Nogrady, M.B.; Wesenberg, R.L.

    1983-06-01

    A newborn baby presented with hyaline membrane disease, interstitial pneumonia, jaundice, hepatosplenomegaly, and unusual bone manifestations with lytic and sclerotic bone lesions and virtually absent periosteal reaction. He subsequently developed intracranial calcifications and mental retardation. The pneumonia and hepatosplenomegaly resolved. At the time of the delivery, a sibling was suffering from a severe undetermined viral infection. The clinical evolution of the disease and the radiologic findings led us to believe that this patient has a prenatal viral infection. The laboratory tests and the histologic picture of the bone biopsy supported the diagnosis.

  13. Flooring choices for newborn ICUs.

    Science.gov (United States)

    White, R D

    2007-12-01

    Floors are a major element of newborn intensive care unit (NICU) construction. They provide visual cues, sound control, and with certain materials, some degree of physical comfort for workers. Flooring materials may entail a significant cost for installation and upkeep and can have substantial ecological impact, both in the choice of the flooring itself, as well as the substances used to clean it. In this article the important aspects to consider for each factor are explored and recommendations are offered for appropriate choices in various NICU areas.

  14. Selection and screening of microbial consortia for efficient and ecofriendly degradation of plastic garbage collected from urban and rural areas of Bangalore, India.

    Science.gov (United States)

    Skariyachan, Sinosh; Megha, M; Kini, Meghna Niranjan; Mukund, Kamath Manali; Rizvi, Alya; Vasist, Kiran

    2015-01-01

    Industrialization and urbanization have led to massive accumulation of plastic garbage all over India. The persistence of plastic in soil and aquatic environment has become ecological threat to the metropolitan city such as Bangalore, India. Present study investigates an ecofriendly, efficient and cost-effective approach for plastic waste management by the screening of novel microbial consortia which are capable of degrading plastic polymers. Plastic-contaminated soil and water samples were collected from six hot spots of urban and rural areas of Bangalore. The plastic-degrading bacteria were enriched, and degradation ability was determined by zone of clearance method. The percentage of polymer degradation was initially monitored by weight loss method, and the main isolates were characterized by standard microbiology protocols. These isolates were used to form microbial consortia, and the degradation efficiency of the consortia was compared with individual isolate and known strains obtained from the Microbial Type Culture Collection (MTCC) and Gene Bank, India. One of the main enzymes responsible for polymer degradation was identified, and the biodegradation mechanism was hypothesized by bioinformatics studies. From this study, it is evident that the bacteria utilized the plastic polymer as a sole source of carbon and showed 20-50% weight reduction over a period of 120 days. The two main bacteria responsible for the degradation were microbiologically characterized to be Pseudomonas spp. These bacteria could grow optimally at 37 °C in pH 9.0 and showed 35-40% of plastic weight reduction over 120 days. These isolates were showed better degradation ability than known strains from MTCC. The current study further revealed that the microbial consortia formulated by combining Psuedomonas spp. showed 40 plastic weight reduction over a period of 90 days. Further, extracellular lipase, one of the main enzymes responsible for polymer degradation, was identified. The

  15. Screening for Critical Congenital Heart Disease in Newborns

    Science.gov (United States)

    ... Search Donate Circulation My alerts Sign In Join Facebook Twitter Home About this Journal Editorial Board General Statistics Circulation Doodle → Blip the Doodle Information for Advertisers Author Reprints Commercial Reprints Customer Service and Ordering ...

  16. 42 CFR 436.124 - Newborn children.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Newborn children. 436.124 Section 436.124 Public... the Categorically Needy § 436.124 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is receiving...

  17. Liver Abscess: Increasing Occurrence in Premature Newborns

    Directory of Open Access Journals (Sweden)

    OKTAV BOSNALI

    2013-03-01

    Full Text Available Neonatal liver abscess is a very rare condition associated with high morbidity and mortality rates. There seems to be an increasing trend of this rare condition amongst the newborns admitted to neonatal intensive care units. We report a case of liver abscess in a premature newborn and briefly review the literature and discuss its management.

  18. Liver Abscess: Increasing Occurrence in Premature Newborns

    Science.gov (United States)

    Bosnalı, Oktav; Moralıoğlu, Serdar; Pektaş, Osman

    2013-01-01

    Neonatal liver abscess is a very rare condition associated with high morbidity and mortality rates. There seems to be an increasing trend of this rare condition amongst the newborns admitted to neonatal intensive care units. We report a case of liver abscess in a premature newborn and briefly review the literature and discuss its management. PMID:26023443

  19. Liver Abscess: Increasing Occurrence in Premature Newborns

    Directory of Open Access Journals (Sweden)

    Oktav Bosnalı

    2013-04-01

    Full Text Available Neonatal liver abscess is a very rare condition associated with high morbidity and mortality rates. There seems to be an increasing trend of this rare condition amongst the newborns admitted to neonatal intensive care units. We report a case of liver abscess in a premature newborn and briefly review the literature and discuss its management.

  20. [Premature newborn: a case presentation].

    Science.gov (United States)

    Pastor Rodríguez, Jesús David; Pastor Bravo, María Del Mar; López García, Visitación; Cotes Teruel, María Isabel; Mellado, Jesús Eulogio; Cárceles, José Jara

    2010-01-01

    A case is presented of a premature newborn of 27 weeks gestation and weighing 420 grams who was delivered as a result of a maternal pre-eclampsia and retarded intra-uterine growth. During the 125 days of hospitalisation, an individual care plan based on the Virginia Henderson model was devised and applied to both the child and her parents using NANDA diagnostics, interventions according to the NIC classification, and the expected results according to the NOC classification. The Marjory Gordon functional patterns were used for the initial assessment. By applying the pre-term newborn (PTNB) plan, all their needs were provided and were modified throughout the hospital stay, with new needs that were added to the established ones. These required a continuous assessment with the subsequent adapting of the care plan. Likewise, the care required by the parents varied from the initial grief due to the possible loss of their child to learning the alarm signs and the home care that their child would need. The child was finally discharged weighing 2900 grams and with normal neurological and psychomotor development, although with a lower weight appropriate to her age. Currently, at 2 years old, the child has a normal neurological and psychomotor development, but with weight and size lower than the P(3) percentile. She requires speech therapy treatment due to paralysis of the right vocal cord.

  1. Traumatic brain lesions in newborns

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    Nícollas Nunes Rabelo

    Full Text Available ABSTRACT The neonatal period is a highly vulnerable time for an infant. The high neonatal morbidity and mortality rates attest to the fragility of life during this period. The incidence of birth trauma is 0.8%, varying from 0.2-2 per 1,000 births. The aim of this study is to describe brain traumas, and their mechanism, anatomy considerations, and physiopathology of the newborn traumatic brain injury. Methods A literature review using the PubMed data base, MEDLINE, EMBASE, Science Direct, The Cochrane Database, Google Scholar, and clinical trials. Selected papers from 1922 to 2016 were studied. We selected 109 papers, through key-words, with inclusion and exclusion criteria. Discussion This paper discusses the risk factors for birth trauma, the anatomy of the occipito-anterior and vertex presentation, and traumatic brain lesions. Conclusion Birth-related traumatic brain injury may cause serious complications in newborn infants. Its successful management includes special training, teamwork, and an individual approach.

  2. Radial localization of odors by human newborns.

    Science.gov (United States)

    Rieser, J; Yonas, A; Wikner, K

    1976-09-01

    To study sensitivity to radial location of an odor source, 20 human newborns, ranging from 16 to 130 hours of age, were presented with a small amount of ammonium hydroxide. The odor source was placed near the nose slightly to the left or right of midline, with its position randomized over repeated trails. Direction of headturn with respect to the odor location and diffuse motor activity were scored from the videotape recordings of the newborns' behavior. It was found that as a group, the newborns turned away from the odor source more frequently than they turned toward it. The tendency to turn away from the odor was stronger in infants who displayed less motor activity after the response. Newborns also exhibited a right bias in the direction of the head movements. It is concluded that a spatially appropriate avoidance response is present in the neonate and that the newborn is innately sensitive to the radial location of an odor.

  3. Effect of Maternal Iron Deficiency Anemia on the Iron Store of Newborns in Ethiopia

    Science.gov (United States)

    Birhanu, Asaye; Nigussie, Paulos; Tsegaye, Aster

    2015-01-01

    Iron deficiency anemia among pregnant women is a widespread problem in developing countries including Ethiopia, though its influence on neonatal iron status was inconsistently reported in literature. This cross-sectional study was conducted to compare hematologic profiles and iron status of newborns from mothers with different anemia status and determine correlation between maternal and neonatal hematologic profiles and iron status in Ethiopian context. We included 89 mothers and their respective newborns and performed complete blood count and assessed serum ferritin and C-reactive protein levels from blood samples collected from study participants. Maternal median hemoglobin and serum ferritin levels were 12.2 g/dL and 47.0 ng/mL, respectively. The median hemoglobin and serum ferritin levels for the newborns were 16.2 g/dL and 187.6 ng/mL, respectively. The mothers were classified into two groups based on hemoglobin and serum ferritin levels as iron deficient anemic (IDA) and nonanemic (NA) and newborns of IDA mothers had significantly lower levels of serum ferritin (P = 0.017) and hemoglobin concentration (P = 0.024). Besides, newborns' ferritin and hemoglobin levels showed significant correlation with maternal hemoglobin (P = 0.018; P = 0.039) and ferritin (P = 0.000; P = 0.008) levels. We concluded that maternal IDA may have an effect on the iron stores of newborns. PMID:25734012

  4. Newborn care: the effect of a traditional illness, asram, in Ghana.

    Science.gov (United States)

    Okyere, E; Tawiah-Agyemang, C; Manu, A; Deganus, S; Kirkwood, B; Hill, Z

    2010-01-01

    To explore the role of a traditional illness of the newborn, asram, in care-seeking in rural Ghana. Data are from formative research into newborn care which included collecting qualitative data from 14 villages in Brong Ahafo region of Ghana through 25 birth narratives, 30 in-depth interviews and two focus groups with recently delivered/pregnant women, 20 in-depth interviews and six focus groups with birth attendants/grandmothers, 12 in-depth interviews and two focus groups with husbands, and six in-depth interviews with asram healers. The study confirmed that asram is characterised by symptoms which include green/black veins, a big head and the newborn growing lean. However, a complex classification of 14 types of asram covering a wide array of symptoms was identified. Asram was perceived as a common illness which cannot be treated at health facilities and to which many danger signs in the newborn are attributed, and thus it affects care-seeking. Asram treatment includes frequent cold herbal baths and air-drying; however, oral treatments and preventive bathing are also used. Any modification of asram treatment was reported to require the sanction of a healer. Understanding traditional illnesses as a potential barrier to newborn care-seeking is essential for designing care-seeking interventions. An asram diagnosis can prevent sick newborns being taken to health facilities and traditional treatment exposes them to the risk of hypothermia.

  5. 邯郸地区新生儿听力与药物性耳聋易感基因突变联合筛查研究%Neonatal hearing screening combined with drug-induced deafness susceptibility genes mutation screening in Handan area

    Institute of Scientific and Technical Information of China (English)

    陈丁莉; 李守霞; 要跟东; 冯海芹; 郭丽丽; 孙彩霞; 杨志明; 张晓芳

    2013-01-01

    Objectives To evaluate the feasibility and significance of universal neonatal hearing screening combined with mitochondria deafness genes screening using newborn cord blood. Methods One thousand newborns were enrolled in the study. Routine hearing screening was carried out and meanwhile the cord bloods were collected for mitochondria DNA screening. Mutations of A1555G and C1494T on mitochondria gene 12S rRNA were screened using Sanger sequencer. Results In hearing screening, 141 (14.1%) of the 1000 newborns were identified to be at risk, of whom 11 (1.1%) were confirmed to have hearing loss. In gene screening. AI555G mutation was found in 4 (0.4%) of the 1000 newborns and C1494T mutation was found in 2 (0.2%) infants, though they were all identified as normal in the first-step hearing screening. Conclusions Mitochondria deafness genes screening can complement hearing screening, and may effectively help to avoid later healing loss in children sensitive to aminoglycoside antibiotics.%目的 探讨在新生儿听力筛查同时,采用新生儿脐带血进行线粒体耳聋基因筛查的可行性及其意义.方法 收集邯郸地区新生儿1 000例为研究对象,进行常规听力筛查,同时采集脐带血,用于线粒体DNA的筛查.采用Sanger测序法检测线粒体12S rRNA A1555G和C1494T两个突变位点.结果 在1000名新生儿中,初次听力筛查有141例(14.1%) 未通过,经过复筛后仍有11例 (1.1%) 未通过新生儿听力筛查.线粒体12S rRNA检测发现携带A1555G突变4例(0.4%),C1494T突变2例 (0.2%),而该6例新生儿均通过了初次听力筛查.结论 线粒体耳聋基因筛查可以有效补充听力筛查的不足,早期发现对氨基糖苷类抗生素敏感的个体,避免药物性耳聋的发生.

  6. Diagnosis of congenital hip dysplasia in the newborn.

    Science.gov (United States)

    Finne, Per Haavwardsholm; Dalen, Ingvild; Ikonomou, Nicolaos; Ulimoen, Geir; Hansen, Thor Willy Ruud

    2008-06-01

    Screening of newborn infants for congenital hip dysplasia may be done by clinical examination, ultrasound, or radiography--or a combination of these. Studies that have used clinical examination followed by ultrasound imaging for infants with certain risk factors have shown excellent results, but they were performed by very experienced practitioners. We wanted to find out whether the results of such screening would be equally good with less optimal staffing. Thus, we evaluated the real-life performance of a screening program for detection of congenital hip dysplasia in newborn infants. We performed a retrospective chart review of all infants (n = 1,983) referred for evaluation for suspected congenital hip dysplasia from one single obstetric hospital, where 19,820 infants had been screened from 1992 through 2001. Infants were referred either because of a positive finding during the Ortolani and Barlow examinations or because of the presence of risk factors. The reasons for referral of the 1,983 infants (10% of those examined) were: positive clinical signs in 255 (1.3% of all examined) and risk factors in 1,547 (7.8%), and a combination of both in 114 (0.6%). 67 other infants (0.3%) who had passed the initial pediatric screening were later referred from the local health centers. Finally, 23 of the 1,983 infants were subsequently referred again by their health center for renewed orthopedic evaluation. Of the infants who were treated (298/1,983 = 15% of those referred), those with a pathological examination result were represented proportionately more than infants who were referred because of risk factors (0.8% as opposed to 0.5%). Delayed diagnoses occurred in 1.7/1,000 infants. The performance of a screening protocol for congenital hip dysplasia in a real-life setting involving several physicians both on the pediatric and orthopedic side may not live up to expectations based on the use of such a protocol in an optimized setting. This type of analysis of screening data

  7. Management of Complex Ovarian Cysts in Newborns – Our Experience

    Science.gov (United States)

    Manjiri, S; Padmalatha, SK; Shetty, J

    2017-01-01

    Aims: To analyse the clinical presentation, clinicopathological correlation and management of complex ovarian cysts in newborn and infants. Materials and Methods: Over a period of 6 years (2009-2015), 25 newborns who were diagnosed to have ovarian cyst on antenatal ultrasound, were followed up. We collected data in the form of clinical features, radiological findings, pathology and mode of treatment. Results: Of the 25 fetuses who were diagnosed to have ovarian cysts, fourteen (56%) underwent spontaneous regression by 6-8 months. Eight were operated in newborn period while 3 were operated in early infancy. Seven had ovarian cyst on right side, 4 had on left side. Eight babies underwent laparoscopy while 3 underwent laparotomy. Histopathology showed varied features of hemorrhagic cyst with necrosis and calcification, serous cystadenoma with hemorrhage, benign serous cyst with hemorrhage and simple serous cyst. Post-operative recovery was uneventful in all. Conclusion: All the ovarian cysts detected antenatally in female fetuses need close follow-up after birth. Since spontaneous regression is known, only complex or larger cysts need surgical intervention, preferably by laparoscopy. Majority of the complex cysts show atrophic ovarian tissue hence end up in oophorectomy but simple cysts can be removed preserving normal ovarian tissue whenever possible. PMID:28083489

  8. Heel lance in newborn during breastfeeding: an evaluation of analgesic effect of this procedure

    Directory of Open Access Journals (Sweden)

    Tozzini Danila

    2008-11-01

    Full Text Available Abstract Objectives The reduction of pain due to routine invasive procedures (capillary heel stick blood sampling for neonatal metabolic screening in the newborn is an important objective for the so-called "Hospital with no pain". Practices such as skin to skin contact, or breastfeeding, in healthy newborn, may represent an alternative to the use of analgesic drugs. The aim of our work is to evaluate the analgesic effect of breastfeeding during heel puncture in full term healthy newborn. Methods We studied 200 healthy full term newborns (100 cases and 100 controls, proposing the puncture to mothers during breastfeeding, and explaining to them all the advantages of this practice. Pain assessment was evaluated by DAN scale (Douleur Aigue Nouveau ne scale. Results The difference in score of pain according to the DAN scale was significant in the two groups of patients (p = 0.000; the medium score was 5.15 for controls and 2.65 for cases (newborns sampled during breastfeeding. Conclusion Our results confirmed the evidence of analgesic effect of breastfeeding during heel puncture. This procedure could easily be adopted routinely in maternity wards.

  9. Congenital CMV infection: prevalence in newborns and the impact on hearing deficit.

    Science.gov (United States)

    Engman, Mona-Lisa; Malm, Gunilla; Engstrom, Lotta; Petersson, Karin; Karltorp, Eva; Tear Fahnehjelm, Kristina; Uhlen, Inger; Guthenberg, Claes; Lewensohn-Fuchs, Ilona

    2008-01-01

    Congenital cytomegalovirus (CMV) infection is asymptomatic in 90% of infected newborns but approximately 10-20% of these infants are at risk of developing sequelae later, mostly hearing deficit. The aims of the study were to investigate the prevalence of congenital CMV infection in a Swedish population of newborns and investigate the relative risk of hearing deficit in newborns with congenital CMV infection. The dried blood spot (DBS) samples of 6060 newborns in southern Stockholm during 12 months (October 2003-June 2004; August 2004-October 2004) were analysed for CMV DNA by TaqMan based real-time PCR. Hearing deficit was assessed by otoacoustic emission (OAE) within a newborn screening programme. 12 infants out of 6060 or 0.2% (95% CI 0.1-0.3%) had congenital CMV infection. One boy among the 12 infected infants had unilateral hearing loss, indicating that the risk of hearing loss is greatly increased (about 20 times) in CMV infected infants. No child developed ocular complications such as chorioretinopathy during 3 y of follow-up. Congenital CMV has an impact on child health but can easily be overlooked due to lack of signs in the neonatal period. Surveillance for congenital CMV is important in addition to programmes for prevention and treatment.

  10. Implementing neonatal screening for congenital cytomegalovirus: addressing the deafness of policy makers.

    Science.gov (United States)

    de Vries, Jutte J C; Vossen, Ann C T M; Kroes, Aloys C M; van der Zeijst, Bernard A M

    2011-01-01

    Congenital cytomegalovirus (CMV) infection is an important public health problem with approximately 7 in 1,000 newborns infected and consequently at risk for hearing impairment. Newborn hearing screening will fail to detect this hearing impairment in approximately half of the cases because late onset hearing loss is frequent. Hearing impairment has profound impact on cognitive and social development of children and their families, determining most of the disease burden of congenital CMV infection. The potential value of newborn screening for congenital CMV is increasingly discussed. To date, many experts acknowledge the benefit of antiviral treatment in the prevention of hearing deterioration in newborns with neurological symptoms, and the benefit of early identification of late-onset hearing impairment by means of extensive audiological follow up of infected infants. These opinions imply that the potential of newborn screening for CMV would lie in the identification of the large proportion of asymptomatic congenitally infected newborns at risk for developing late-onset hearing loss. Experience with postnatal antiviral treatment of symptomatic newborns is encouraging, but has not been studied in asymptomatic congenitally infected newborns. A large-scale study on the safety and effectiveness of combined screening and antiviral therapy for congenital CMV infection is the necessary next step to take and should not be delayed.

  11. Third trimester screening for alloimmunisation in Rhc-negative pregnant women : evaluation of the Dutch national screening programme

    NARCIS (Netherlands)

    Slootweg, Y. M.; Koelewijn, J. M.; van Kamp, I. L.; van der Bom, J. G.; Oepkes, D.; de Haas, M.

    ObjectiveTo evaluate the effect of red blood cell (RBC) antibody screening in the 27th week of pregnancy in Rhc-negative women, on detection of alloimmunisation, undetected at first trimester screening (late' alloimmunisation), and subsequent haemolytic disease of the fetus and newborn (HDFN), to

  12. Third trimester screening for alloimmunisation in Rhc-negative pregnant women : evaluation of the Dutch national screening programme

    NARCIS (Netherlands)

    Slootweg, Y. M.; Koelewijn, J. M.; van Kamp, I. L.; van der Bom, J. G.; Oepkes, D.; de Haas, M.

    2016-01-01

    ObjectiveTo evaluate the effect of red blood cell (RBC) antibody screening in the 27th week of pregnancy in Rhc-negative women, on detection of alloimmunisation, undetected at first trimester screening (late' alloimmunisation), and subsequent haemolytic disease of the fetus and newborn (HDFN), to as

  13. Monitoring of cerebral haemodynamics in newborn infants

    DEFF Research Database (Denmark)

    Liem, K Djien; Greisen, Gorm

    2010-01-01

    The most important cerebrovascular injuries in newborn infants, particularly in preterm infants, are cerebral haemorrhage and ischemic injury. The typical cerebral vascular anatomy and the disturbance of cerebral haemodynamics play important roles in the pathophysiology. The term 'cerebral...

  14. Zika Linked to Deformed Limbs in Newborns

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_160324.html Zika Linked to Deformed Limbs in Newborns Cause isn' ... 2016 TUESDAY, Aug. 9, 2016 (HealthDay News) -- The Zika virus has already been linked to serious birth ...

  15. Complete albinism in a Podarcis muralis newborn

    Directory of Open Access Journals (Sweden)

    Filippo Spadola

    2007-01-01

    Full Text Available The authors describe a case of complete albinism in a Podarcis muralis newborn, from Chieti (Abruzzo, central Italy in September 2004. This is the first complete albinism case in a Podarcis spp. In the world.

  16. Changes in the newborn at birth

    Science.gov (United States)

    Birth - changes in the newborn ... heart and flows through the baby's body. At birth, the baby's lungs are filled with fluid. They ... gastrointestinal system doesn't fully function until after birth. In late pregnancy, the baby produces a tarry ...

  17. The interfacility transport of critically ill newborns.

    Science.gov (United States)

    Whyte, Hilary Ea; Jefferies, Ann L

    2015-01-01

    The practice of paediatric/neonatal interfacility transport continues to expand. Transport teams have evolved into mobile intensive care units capable of delivering state-of-the-art critical care during paediatric and neonatal transport. While outcomes are best for high-risk infants born in a tertiary care setting, high-risk mothers often cannot be safely transferred. Their newborns may then have to be transported to a higher level of care following birth. The present statement reviews issues relating to transport of the critically ill newborn population, including personnel, team competencies, skills, equipment, systems and processes. Six recommendations for improving interfacility transport of critically ill newborns are highlighted, emphasizing the importance of regionalized care for newborns.

  18. Panniculitis in the newborn: a case report

    Directory of Open Access Journals (Sweden)

    Fernando Bastos

    2011-12-01

    Full Text Available The authors present a case of panniculitis in a newborn, a rare disease in the neonatal period discussing its causes and differential diagnosis, emphasizing a possible diagnosis of erythema nodosum.

  19. Newborns from deliveries with epidural anaesthesia

    Directory of Open Access Journals (Sweden)

    Avramović Lidija

    2010-01-01

    Full Text Available Introduction. The use of epidural anaesthesia in delivery with the purpose to reduce pain and fear in a pregnant woman has the influence on the physiological status of the woman in childbirth and the course of delivery. From the epidural space of the pregnant woman, one part of free anaesthetic comes in the foetal circulation through the mother's circulation and placenta and connects with the foetal proteins. A lower value of albumins and serum proteins in the foetal circulation give bigger free fraction of anaesthetic which is accumulated in the foetal liver, brain and heart full of blood. Objective. The aim of the study was to examine the influence of epidural anaesthesia on the newborn. Methods. Retrospective study of 6,398 documents of newborns was performed in our Clinic of Gynaecology and Obstetrics 'Narodni front' during 2006. The first group was made of 455 newborns from deliveries with epidural anaesthesia and the second was the control group of 5,943 remaining newborns. In both groups we analysed the following: sex, week of gestation, weight, Apgar score, measure of care and resuscitation, perinatal morbidity and then the obtained results were compared. Results. Most of deliveries were vaginal without obstetric intervention (86.6%. The number of deliveries finished with vacuum extractor (4.6% was statistically significantly bigger in the group with epidural anaesthesia than in the control group. Most of the newborns in the first group were born on time (96.5% in 39.0±1.0 week of gestation and with foetal weight 3448±412 grammes. There was no statistical significance in Apgar score between both groups. Epidural anaesthesia does not increase the degree of the newborn's injury. Lower pH of blood was found in the newborns from deliveries with vacuum extractor or operated on (the Ceasarean section. Conclusion. Application of epidural anaesthesia decreases duration of delivery and has no adverse effects on the newborn and hypoxic

  20. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included