Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia

PEDIATRICS ◽  
1977 ◽  
Vol 60 (3) ◽  
pp. 389-389
Author(s):  
Charles R. Scriver ◽  
Murray Feingold ◽  
Peter Mamunes ◽  
Henry L. Nadler
Keyword(s):  
Thyroid Hormone ◽  
Newborn Infant ◽  
Screening Program ◽  
Task Force ◽  
Hormone Deficiency ◽  
American Thyroid Association ◽  
Screening Programs ◽  
Congenital Deficiency ◽  
Essential Components ◽  
Infant Screening

The Committee on Genetics of the American Academy of Pediatrics was formed in 1976. The initial reports from the Committee are published in this supplement to Pediatrics: one on guidelines for screening the newborn infant for hyperphenylalaninemia (including phenylketonuria [PKU]) and the other on screening for congenital hypothyroidism. The first statement describes guidelines for screening for thyroid hormone deficiency in newborn infants; it concerns a traditional problem in pediatrics, the prevention of cretinism. A statement on "T4 screening" has already been issued by the American Thyroid Association.1 Why is there need for another (and longer) statement from the Academy? The Task Force on Genetic Screening recommended a special review of T4 screening, and that recommendation has been acted on quickly in the hope that most of the mistakes made in PKU screening will not be repeated in T4 screening. The American Thyroid Association statement adequately describes the status of testing for T4 deficiency; it does not cover other essential components of an effective screening program, namely, provision for serving patient retrieval, diagnosis, and treatment. The Committee urges pediatricians and endocrinologists who elect to push ahead with T4 testing to pause and examine the many issues of mass newborn infant screening before they act too hastily, perhaps to the detriment of their patients and newborn infant screening programs. Dr. Jean Dussault served as consultant to the Committee when it examined T4 screening; his personal experience extends to ¼ million screened subjects and emanates from a model program which has largely avoided many pitfalls of newborn infant screening.

Screening for Congenital Deficiency of Thyroid Hormone

PEDIATRICS ◽  
1977 ◽  
Vol 60 (3) ◽  
pp. 391-395
Keyword(s):  
Thyroid Hormone ◽  
Early Diagnosis ◽  
Newborn Infant ◽  
Genetic Screening ◽  
Thyroid Tissue ◽  
Hormone Deficiency ◽  
Background Information ◽  
American Thyroid Association ◽  
Congenital Deficiency ◽  
Thyroid Hormone Biosynthesis

The Task Force on Genetic Screening was not able to discuss details of the various forms of genetic and metabolic screening.1 A Committee on Genetics was formed to examine these and other issues relating to congenital disease and medical genetics. The following statement is one of the Committee's reports. Congenital thyroid hormone deficiency is a prime example of a condition whose early diagnosis, as well as the opportunity for effective treatment, can be missed. The following report examines both the practice of newborn infant screening for early diagnosis of congenital thyroid hormone (T4) deficiency and the relation of that activity to the principles of metabolic (and genetic) screening.2 The reader is also referred to a parallel statement prepared by a committee of the American Thyroid Association.3 BACKGROUND INFORMATION There is limited placental transport of thyrotropin (TSH) and the thyroid hormones 3,5,3'-triiodothyronine (T3) and thyroxine (T4). Serum T4 concentration in the newborn infant will be diminished when there is congenital deficiency of thyroid tissue, impaired activity of one of the enzymes involved in thyroid hormone biosynthesis (T4 hormone dysgenesis), deficient serum binding globulin (TBG), or deficient stimulation of thyroid (by TSH) or pituitary (by thyrotropin releasing hormone [TRH]). Primary congenital hypothyroidism (cretinism) is associated with a high frequency of mental retardation; cretinism accounts for about 1% to 2% of admissions to institutions for the mentally retarded. Only half of the patients with cretinism achieve IQs above 90 if diagnosis and treatment are delayed until 3 to 6 months of age, but 75% of patients achieve this outcome when clinical diagnosis is made and treatment begins before 3 months of age.4

Lung Cancer Screening in the Community Setting: Challenges for Adoption

2018 ◽  
Vol 84 (9) ◽  
pp. 1415-1421
Author(s):  
Simran Randhawa ◽  
Gary Drizin ◽  
Tracy Kane ◽  
Grace Y. Song ◽  
Thomas Reilly ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Online Survey ◽  
Screening Program ◽  
Task Force ◽  
Community Setting ◽  
Lung Cancer Screening ◽  
Lung Cancer Mortality ◽  
High Risk Population ◽  
Screening Programs ◽  
National Lung Screening Trial

Secondary prevention of lung cancer by screening a high-risk population with low-dose CT (LDCT) of the chest has been shown to save lives. Our Institution offered a free screening program in 2013. The program was promoted through flyers, radio programs, face-to-face information sessions, and a multidisciplinary lung symposium. A lung navigator confirmed the eligibility of patients according to National Lung Screening Trial (NLST) criteria. Data were, prospectively, collected over a 12-month period using Lung-RADs (Lung Imaging Reporting and Data System). After one year, an online survey was sent out to all primary care and referring physicians in the network. One hundred and sixty-nine patients were found to be eligible for screening. Sixty-five per cent were black, 44 per cent white, 9 per cent Hispanic, and 6 per cent were Asian. Sixty per cent patients were referred by their physician. Thirty-one were Lung-RADs 1 (18.3%), 116 were Lung-RADs 2 (68.6%), 16 were Lung-RADs 3 (9.5%), and six were Lung-RADs 4 (3.6%). At the end of the study period, the survey showed that 100 per cent of the providers were aware of the screening program but 15 per cent never referred a patient. Time constraints and requirement for precertification were cited as potential barriers to referral. Twenty-six per cent of providers were unaware that LDCT was recommended by the U.S. Preventive Services Task Force on par with colonoscopy and mammography. The NLST showed that screening with LDCT could reduce lung cancer mortality by 20 per cent. Significant concerns exist about the generalizability of these results and the applicability of screening programs in the community.

scholarly journals Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism

2004 ◽  
Vol 48 (1) ◽  
pp. 70-82 ◽  
Author(s):  
Jussara Vono-Toniolo ◽  
Peter Kopp
Keyword(s):  
Thyroid Hormone ◽  
Congenital Hypothyroidism ◽  
Early Recognition ◽  
Wide Spectrum ◽  
Hormone Deficiency ◽  
Follicular Cells ◽  
Thyroid Dysgenesis ◽  
Hormone Synthesis ◽  
Screening Programs ◽  
Thyroid Follicular Cells

Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyroid hypoplasia. Thyroid dysgenesis is usually sporadic; in only 2% it occurs in a familial fashion. It can be caused by mutations in transcription factors that are essential for the development and function of thyroid follicular cells. Thyroid hypoplasia can also result from resistance to TSH at the level of the thyrocytes. Defects in the steps required for thyroid hormone synthesis within thyroid follicular cells are referred to as dyshormonogenesis and account for about 10-15% of congenital hypothyroidism. In contrast to thyroid dysgenesis, affected patients typically present with goitrous enlargement of the thyroid. The defects leading to dyshormonogenesis typically display a recessive mode of inheritance. Careful clinical, biochemical and molecular analyses of patients with syndromic and non-syndromic forms of thyroid dysgenesis and dyshormonogenesis have significantly enhanced our understanding of the wide spectrum of pathogenetic mechanisms underlying congenital hypothyroidism and provide unique insights into the (patho)physiology of thyroid development and hormone synthesis.

scholarly journals An Audit of Opportunistic Lung Cancer Screening in a Canadian Province

2021 ◽  
Vol 12 ◽  
pp. 215013272110514
Author(s):  
Victoria Linehan ◽  
Scott Harris ◽  
Rick Bhatia
Keyword(s):  
Lung Cancer ◽  
Screening Program ◽  
Task Force ◽  
Preventive Health Care ◽  
Smoking History ◽  
Cancer Stage ◽  
Detection Rates ◽  
Cancer Symptoms ◽  
Screening Programs ◽  
Stage 1

Objectives: Lung cancer is a leading cause of cancer-related death in Canada. Early detection can improve outcomes and despite recommendations from the Canadian Task Force on Preventive Health Care to screen patients who are 55 to 74 years old and have a 30+ pack-year history, formal screening programs are rare in Canada. Our goal was to determine if screening is being performed in a representative Canadian population, if recommendations are being followed, and how screening impacts lung cancer stage at diagnosis and prognosis. Methods: A retrospective chart review was performed to identify patients either screened for lung cancer or imaged due to lung cancer symptoms in Eastern Newfoundland between 2015 and 2018. Age, smoking history, screening modality, diagnosis, cancer stage, and mortality were recorded. Results: Under 6.0% of the eligible population were screened for lung cancer with only 28.13% meeting age and smoking criteria and being screened appropriately with low-dose CT. However, 70% of patients that had lung cancers found by screening met age and smoking screening criteria. While lung cancer detection rates were similar, screening detected cancer in patients at an earlier stage (50% Stage 1) compared to patients who were not screened (20% Stage 1). Patients who were screened had an improved prognosis. Conclusions: Physicians are opportunistically screening for lung cancer, but not consistently following screening guidelines. As screening is sensitive, leads to earlier stage diagnosis, and has a mortality benefit, implementation of an organized screening program could increase quality assurance and prevent many lung-cancer related deaths.

scholarly journals Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement

Thyroid ◽  
2014 ◽  
Vol 24 (12) ◽  
pp. 1670-1751 ◽  
Author(s):  
Jacqueline Jonklaas ◽  
Antonio C. Bianco ◽  
Andrew J. Bauer ◽  
Kenneth D. Burman ◽  
Anne R. Cappola ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Task Force ◽  
Hormone Replacement ◽  
American Thyroid Association ◽  
Thyroid Hormone Replacement ◽  
Association Task

Human Papillomavirus Selected Properties and Related Cervical Cancer Prevention Issues

2020 ◽  
Vol 26 (18) ◽  
pp. 2073-2086
Author(s):  
Saule Balmagambetova ◽  
Andrea Tinelli ◽  
Ospan A. Mynbaev ◽  
Arip Koyshybaev ◽  
Olzhas Urazayev ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Human Papillomavirus ◽  
Cancer Prevention ◽  
Screening Program ◽  
Hpv Infection ◽  
Cervical Cancer Prevention ◽  
Point Of View ◽  
Prevention Strategies ◽  
Middle Income ◽  
Screening Programs

High-risk human papillomavirus strains are widely known to be the causative agents responsible for cervical cancer development. Aggregated damage caused by papillomaviruses solely is estimated in at least 5% of all malignancies of the human body and 16% in cancers that affect the female genital area. Enhanced understanding of the complex issue on how the high extent of carcinogenicity is eventually formed due to the infection by the Papoviridae family would contribute to enhancing current prevention strategies not only towards cervical cancer, but also other HPV associated cancers. This review article is aimed at presenting the key points in two directions: the current cervical cancer prevention and related aspects of HPV behavior. Virtually all applied technologies related to HPV diagnostics and screening programs, such as HPV tests, colposcopy-based tests (VIA/VILI), conventional and liquid-based cytology, currently available are presented. Issues of availability, advantages, and drawbacks of the screening programs, as well as vaccination strategies, are also reviewed in the article based on the analyzed sources. The current point of view regarding HPV is discussed with emphasis on the most problematic aspect of the HPV family concerning the observed increasing number of highly carcinogenic types. Present trends in HPV infection diagnostics throughout the human fluids and tissues are also reported, including the latest novelties in this field, such as HPV assay/self-sample device combinations. Besides, a brief outline of the related prevention issues in Kazakhstan, the leading country of Central Asia, is presented. Kazakhstan, as one of the post-soviet middle-income countries, may serve as an example of the current situation in those terrains, concerning the implementation of globally accepted cervical cancer prevention strategies. Along with positive achievements, such as the development of a nationwide screening program, a range of drawbacks is also analyzed and discussed.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

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