Inborn errors of metabolism in the United States

1987 ◽  
Vol 2 (3) ◽  
pp. 1-8
Author(s):  
Virginia E. Schuett
Keyword(s):  
United States ◽  
Inborn Errors Of Metabolism ◽  
The United States ◽  
Inborn Errors

Donors for Liver Transplantation

PEDIATRICS ◽  
1983 ◽  
Vol 71 (5) ◽  
pp. 856-857
Author(s):  
THOMAS E. STARZL ◽  
THOMAS R. HAKALA ◽  
J. THOMAS ROSENTHAL ◽  
DON DENNY
Keyword(s):  
United States ◽  
Liver Transplantation ◽  
Biliary Atresia ◽  
Inborn Errors Of Metabolism ◽  
The United States ◽  
Good Evidence ◽  
Full Potential ◽  
Inborn Errors ◽  
Infancy And Childhood ◽  
Liver Replacement

There is good evidence that the decade of the 1980s will witness an expansion of efforts to transplant extrarenal organs. This will have a profound effect in pediatrics, and particularly in the field of hepatology. The number of infants born with biliary atresia is not known with certainty, but it is likely that there are approximately 500 new cases each year in the United States. The number of lethal hepatic based inborn errors of metabolism that can be effectively treated with liver replacement has steadily grown. Other acquired hepatic disorders are not uncommon in infancy and childhood. If transplantation of the liver (or of the kidney, heart, intestine, pancreas, and possibly other organs) is to reach its full potential, pediatricians will have to be more acutely aware of the need for organs, and will need to collaborate actively in the procurement process.

The Crashing Neonate

2020 ◽  
pp. 15-30
Author(s):  
Thomas M. Kennedy ◽  
Ghazala Q. Sharieff
Keyword(s):  
United States ◽  
Emergency Department ◽  
Inborn Errors Of Metabolism ◽  
Clinical Information ◽  
The United States ◽  
Emergency Department Visits ◽  
Metabolic Abnormalities ◽  
Midgut Volvulus ◽  
Inborn Errors ◽  
Hospital Policies

An increasing incidence of newborn emergency department visits in the United States has been documented; this may be due to a higher number of home births and hospital policies directing earlier discharge of newborns from nurseries. Although many of these visits are for benign conditions, it is imperative that the emergency physician know how to manage a critically ill neonate (a newborn in the first 28 days of life). The mnemonic, THE MISFITS, provides a method for remembering many of the serious conditions that present acutely in the neonatal period: trauma (accidental trauma and child abuse), heart disease (structural and nonstructural) and hypovolemia, endocrinopathies, metabolic abnormalities (electrolyte imbalances), inborn errors of metabolism, sepsis, formula mishaps (under- or overdilution), intestinal catastrophes (e.g., necrotizing enterocolitis and midgut volvulus), toxic exposures, and seizures. This chapter provides the essential clinical information for several of these conditions.

scholarly journals Newborn screening and changing face of inborn errors of metabolism in the United States

2018 ◽  
Vol 6 (24) ◽  
pp. 468-468 ◽  
Author(s):  
Shibani Kanungo ◽  
Dilip R. Patel ◽  
Mekala Neelakantan ◽  
Brinda Ryali
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
The United States ◽  
Inborn Errors

scholarly journals Genetic Testing and the Clinical Laboratory Improvement Amendments of 1988: Present and Future

1999 ◽  
Vol 45 (5) ◽  
pp. 739-745 ◽  
Author(s):  
Morton K Schwartz
Keyword(s):  
Genetic Testing ◽  
Inborn Errors Of Metabolism ◽  
Clinical Laboratory ◽  
Clinical Chemistry ◽  
Special Section ◽  
Molecular Genetic ◽  
The United States ◽  
Inborn Errors ◽  
Clear Cut ◽  
Ethical Implications

Abstract CLIA ‘88 superseded CLIA ‘67. CLIA ‘88 set standards designed to improve quality and expanded federal oversight to virtually all clinical laboratories in the United States. Presumably because genetics testing was then in its infancy, CLIA ‘88 did not devote a special section to genetics testing. Biochemical and immunochemical tests used to evaluate inborn errors of metabolism and other genetic entities were categorized as analytes in the Clinical Chemistry section, and DNA probes used primarily in infectious disease were included in Microbiology. The legal, social, economic, and ethical implications of genetic testing and the rapid commercialization of these tests led to recommendations that genetic testing be defined as a laboratory specialty with a subsection in CLIA. The advisory committee created under CLIA was assigned to review these recommendations. The committee agreed that genetics testing was sufficiently different from other areas already included in CLIA to warrant a separate section. Two definitions were adopted. The more clear-cut one is for molecular genetic and cytogenic tests. This includes the analysis of human DNA/RNA in evaluating genetic diseases. The second definition is not as clear-cut and is for the analysis of proteins and metabolites used predominantly to detect inborn errors of metabolism. Many of these analytes already are categorized according to their uses for other purposes. The recommendations for genetic testing include detailed and specific proposals concerning personnel, confidentiality and informed consent, quality control, contamination, proficiency testing, validation of tests, special reporting, retention of records, and reuse of tested specimens.

Correlative microscopy in distrubuted (client/server) computing environments: tools for catalyzing the rapid dissemination of information about the cell biology of the human prostate

1995 ◽  
Vol 53 ◽  
pp. 682-683
Author(s):  
A. Hakam ◽  
J.T. Gau ◽  
M.L. Grove ◽  
B.A. Evans ◽  
M. Shuman ◽  
...  
Keyword(s):  
United States ◽  
Cell Biology ◽  
Tissue Bank ◽  
The United States ◽  
Prostate Adenocarcinoma ◽  
Correlative Microscopy ◽  
Client Server ◽  
Critical Elements ◽  
Transplant Organ

Prostate adenocarcinoma is the most common malignant tumor of men in the United States and is the third leading cause of death in men. Despite attempts at early detection, there will be 244,000 new cases and 44,000 deaths from the disease in the United States in 1995. Therapeutic progress against this disease is hindered by an incomplete understanding of prostate epithelial cell biology, the availability of human tissues for in vitro experimentation, slow dissemination of information between prostate cancer research teams and the increasing pressure to “ stretch” research dollars at the same time staff reductions are occurring.To meet these challenges, we have used the correlative microscopy (CM) and client/server (C/S) computing to increase productivity while decreasing costs. Critical elements of our program are as follows:1) Establishing the Western Pennsylvania Genitourinary (GU) Tissue Bank which includes >100 prostates from patients with prostate adenocarcinoma as well as >20 normal prostates from transplant organ donors.

Digital image acquisition, processing, and analysis in a polymer microscopy laboratory

1994 ◽  
Vol 52 ◽  
pp. 454-455
Author(s):  
Vinod K. Berry ◽  
Xiao Zhang
Keyword(s):  
United States ◽  
Image Analysis ◽  
Digital Image ◽  
Image Acquisition ◽  
Image Transmission ◽  
The United States ◽  
Quantitative Image Analysis ◽  
Quantitative Image

In recent years it became apparent that we needed to improve productivity and efficiency in the Microscopy Laboratories in GE Plastics. It was realized that digital image acquisition, archiving, processing, analysis, and transmission over a network would be the best way to achieve this goal. Also, the capabilities of quantitative image analysis, image transmission etc. available with this approach would help us to increase our efficiency. Although the advantages of digital image acquisition, processing, archiving, etc. have been described and are being practiced in many SEM, laboratories, they have not been generally applied in microscopy laboratories (TEM, Optical, SEM and others) and impact on increased productivity has not been yet exploited as well.In order to attain our objective we have acquired a SEMICAPS imaging workstation for each of the GE Plastic sites in the United States. We have integrated the workstation with the microscopes and their peripherals as shown in Figure 1.

Silence of the Land: On the Historical Irrelevance of Territory to Congressional Districting and Political Representation in the United States

2001 ◽  
Vol 15 (01) ◽  
pp. 53-87 ◽  
Author(s):  
Andrew Rehfeld
Keyword(s):  
United States ◽  
House Of Representatives ◽  
Political Representation ◽  
The United States ◽  
Representative Government ◽  
Congressional District ◽  
Congressional Districts ◽  
Communities Of Interest

Every ten years, the United States “constructs” itself politically. On a decennial basis, U.S. Congressional districts are quite literally drawn, physically constructing political representation in the House of Representatives on the basis of where one lives. Why does the United States do it this way? What justifies domicile as the sole criteria of constituency construction? These are the questions raised in this article. Contrary to many contemporary understandings of representation at the founding, I argue that there were no principled reasons for using domicile as the method of organizing for political representation. Even in 1787, the Congressional district was expected to be far too large to map onto existing communities of interest. Instead, territory should be understood as forming a habit of mind for the founders, even while it was necessary to achieve other democratic aims of representative government.

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