scholarly journals The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease

2020 ◽  
Vol 6 (3) ◽  
pp. 65
Author(s):  
Monica M. Martin ◽  
Ryan Wilson ◽  
Michele Caggana ◽  
Joseph J. Orsini

New York uses a two-tier assay to screen newborns for Krabbe disease and Pompe disease. Individual enzyme activities are measured in the first-tier, and specimens from newborns with low activity are reflexed to second tier Sanger sequencing of the associated gene. Using only this two-tiered approach, the screen positive and false positive rates were high. In this study, we added an additional step that examines the activity of four additional lysosomal enzymes. Results for all enzymes are integrated using the multivariate pattern recognition software called Collaborative Laboratory Integrated Reports (CLIR) to assess the risk for disease. Results after one year of screening using the new algorithm are compared to the prior year of screening without consideration of the additional enzymes and use of CLIR. With CLIR the number of babies referred for Krabbe disease was reduced by almost 80% (from 48 to 10) and the number of babies referred for Pompe disease was reduced by almost 32% (22 to 15).

2020 ◽  
Vol 6 (2) ◽  
pp. 33 ◽  
Author(s):  
Dimitar K. Gavrilov ◽  
Amy L. Piazza ◽  
Gisele Pino ◽  
Coleman Turgeon ◽  
Dietrich Matern ◽  
...  

The expansion of the recommend uniform screening panel to include more than 50 primary and secondary target conditions has resulted in a substantial increase of false positive results. As an alternative to subjective manipulation of cutoff values and overutilization of molecular testing, here we describe the performance outcome of an algorithm for disorders of methionine, cobalamin, and propionate metabolism that includes: (1) first tier screening inclusive of the broadest available spectrum of markers measured by tandem mass spectrometry; (2) integration of all results into a score of likelihood of disease for each target condition calculated by post-analytical interpretive tools created byCollaborative Laboratory Integrated Reports (CLIR), a multivariate pattern recognition software; and (3) further evaluation of abnormal scores by a second tier test measuring homocysteine, methylmalonic acid, and methylcitric acid. This approach can consistently reduce false positive rates to a <0.01% level, which is the threshold of precision newborn screening. We postulate that broader adoption of this algorithm could lead to substantial savings in health care expenditures. More importantly, it could prevent the stress and anxiety experienced by many families when faced with an abnormal newborn screening result that is later resolved as a false positive outcome.


2015 ◽  
Vol 18 (15) ◽  
pp. 2881-2890 ◽  
Author(s):  
Brian Elbel ◽  
Alyssa Moran ◽  
L Beth Dixon ◽  
Kamila Kiszko ◽  
Jonathan Cantor ◽  
...  

AbstractObjectiveTo assess the impact of a new government-subsidized supermarket in a high-need area on household food availability and dietary habits in children.DesignA difference-in-difference study design was utilized.SettingTwo neighbourhoods in the Bronx, New York City. Outcomes were collected in Morrisania, the target community where the new supermarket was opened, and Highbridge, the comparison community.SubjectsParents/caregivers of a child aged 3–10 years residing in Morrisania or Highbridge. Participants were recruited via street intercept at baseline (pre-supermarket opening) and at two follow-up periods (five weeks and one year post-supermarket opening).ResultsAnalysis is based on 2172 street-intercept surveys and 363 dietary recalls from a sample of predominantly low-income minorities. While there were small, inconsistent changes over the time periods, there were no appreciable differences in availability of healthful or unhealthful foods at home, or in children’s dietary intake as a result of the supermarket.ConclusionsThe introduction of a government-subsidized supermarket into an underserved neighbourhood in the Bronx did not result in significant changes in household food availability or children’s dietary intake. Given the lack of healthful food options in underserved neighbourhoods and need for programmes that promote access, further research is needed to determine whether healthy food retail expansion, alone or with other strategies, can improve food choices of children and their families.


1990 ◽  
Vol 21 (2) ◽  
pp. 45-57 ◽  
Author(s):  
Lorinda R. Arella ◽  
Sherry Deren ◽  
Joan Randell ◽  
Vincent Brewington

Interventions were designed to increase utilization ofvocational services and client vocational/educational status in methadone treatment programs. The impact of two variables was assessed: (a) compensating programs for Medicaid reimbursement losses associated with client vocational progress (MC), and (b) placement of a vocational specialist whose role was to facilitate clinic integration of vocational services with other program goals, resources, and policies (VI). The study was conducted in four methadone maintenance treatment programs located in New York City. Conclusions were that: (a) involvement in the study itself can cause a significant increase in V/E activity, (b) the VI factor alone was related to higher rates of V/E referral, while the MC factor alone was associated with decrease in both V/E activity and status, and (c) given the high degree of V/E status stability and the inverse relationship of V/E status to continued drug use and Medicaid dependence, the greatest V/E status gains are likely to occur where both issues are addressed.


2001 ◽  
Vol 18 (1) ◽  
pp. 110-114
Author(s):  
Ibrahim Kalin

This book, originally published in 1962, has now become a classic on the historyof modemTurkish political thought, whose beginning is usually traced back to theT-t period (1836-1878), the most turbulent and crucial period of modemTurkish history. Serif Mardin, the famous Turkish historian and political scientist,is like a household name to those interested in modern Ottoman and Turkishintellectual history. In his numerous books and articles, which followed thepublication of the present work, Mardin took the herculean task of unearthing theparameters of modem Turkish thought with an almost solitary conscience. It issimply impossible to have a discussion about Islam and Turkish society, socialchange, modernization or secularization without referring to Mardin’s work,which is woven around a string of ideas, concepts and analytical tools, all of whichenable him to see the realities of Turkey and the modem Islamic world both fromwithin and from without. His more recent Relwon and Social change in Twkey:’ c irhe of&aYuzaman Said Nuni (New York: SUNY Press, 1989),w hich is thesingle most important book written in English on Said Nursi, the founder of theNurcu movement in Turkey, is the result of the same set of principles Mardin hasadopted throughout his career: diligent scholarship, resistance to fads, and willingnessto understand before passing any judgements on his subject.The present work under review touches upon the most sensitive and crucialperiod of modem Turkish history, viz., the end of the Ottoman era and the establishmentof the modem Turkish Republic. Mardin’s exclusive emphasis is on theTanzirnat period, and the figures that laid the intellectual foundations of it. Thesignificance of this period can hardly be overemphasized, not only for Turkish historybut also for the rest of the Islamic world. It was in this period that a wholegeneration of ottoman intellectuals, from right to left, was faced with the historictask of confronting modem western civilization in the profoundest sense of theterm, and their successes and failures set the agenda for the modem intellectualhistory of Turkey for decades to follow. Their troublesome journey was shaped bythe historical setting, in which they came to terms with such questions as modernism,secularism, westernization, nationalism, Islam, society, science, tradition,and a host of other issues that continue to haunt the minds of the Islamic worldtoday. Their trial, however, was linked to the rest of the members of the Islamicworld in ways, as the present work under review shows, more important than isusually thought, and this issue, namely the place of ottoman intellectual historywithin the larger context of modem klamic thought, has not been resolved. In this ...


2009 ◽  
Vol 8 (2) ◽  
pp. 89-94
Author(s):  
Robyn J. Barst ◽  
Marc Humbert ◽  
Ivan M. Robbins ◽  
Lewis J. Rubin ◽  
Robyn J. Park

A discussion among attendees of the 4th World Symposium on Pulmonary Hypertension took place to share “an insider's look” into the current and future research and treatment implications in pulmonary hypertension. Myung H. Park, MD, guest editor of this issue of Advances in Pulmonary Hypertension, Assistant Professor of Medicine and Director, Pulmonary Vascular Diseases Program, Division of Cardiology, University of Maryland School of Medicine, Baltimore, moderated the discussion. Participants included Robyn Barst, MD, Professor Emerita, Columbia University, New York; Marc Humbert, MD, PhD, Universite Paris-Sud, French Referal Center for Pulmonary Hypertension, Hopital Antoine-Beclere, Assistance Publique Hopitaux de Paris, Clamart, France; Ivan Robbins, MD, Associate Professor of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee; and Lewis J. Rubin, MD, Clinical Professor, Department of Medicine, University of California, San Diego.


2020 ◽  
Author(s):  
Eduardo Atem De Carvalho ◽  
Rogerio Atem De Carvalho

BACKGROUND Since the beginning of the COVID-19 pandemic, researchers and health authorities have sought to identify the different parameters that govern their infection and death cycles, in order to be able to make better decisions. In particular, a series of reproduction number estimation models have been presented, with different practical results. OBJECTIVE This article aims to present an effective and efficient model for estimating the Reproduction Number and to discuss the impacts of sub-notification on these calculations. METHODS The concept of Moving Average Method with Initial value (MAMI) is used, as well as a model for Rt, the Reproduction Number, is derived from experimental data. The models are applied to real data and their performance is presented. RESULTS Analyses on Rt and sub-notification effects for Germany, Italy, Sweden, United Kingdom, South Korea, and the State of New York are presented to show the performance of the methods here introduced. CONCLUSIONS We show that, with relatively simple mathematical tools, it is possible to obtain reliable values for time-dependent, incubation period-independent Reproduction Numbers (Rt). We also demonstrate that the impact of sub-notification is relatively low, after the initial phase of the epidemic cycle has passed.


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