bluuebunny/crossref_metadata_2025_split huggingface dataset:
Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies
Authors: WETHERS DORIS , PEARSON HOWARD , GASTON MARILYN 
Published: December 2021

Hemoglobinopathies represent one of the major health problems in the United States and constitute the most common genetic disorders in some populations. Sickle cell disease (SS, SC, S-β-thalassemia) alone affects about one in 400 American black newborns, as well as persons of African, Mediterranean, Asian, Caribbean, Middle Eastern, and South and Central American origins.
For the past 20 years, the medical profession has known that children with sickle cell anemia have an increased susceptibility to severe bacterial infection, particularly due to Streptococcus pneumoniae. The risk of major infection and death posed by this organism is greatest in the first 3 years of life and can occur as early as 3 months of age. In fact, this infection may be the first clinical manifestation of disease. The infection can be fulminant, progressing from the onset of fever to death in a matter of hours, and the case fatality rate is reported as high as 30%.
In addition, acute splenic sequestration, another acute catastrophic event, contributes to early mortality in children with sickle cell anemia and may occur as early as 5 months of age.
It has been proposed that early diagnosis to identify infants with major sickle hemoglobinopathies, who have a high risk of early mortality and morbidity, is essential to institute appropriate ongoing care and effective measures of prophylaxis and intervention. Early diagnosis of hemoglobinopathies should be in the newborn period.
Even though the technology to screen infants in the newborn period has been available for the past 15 to 20 years, screening has not received widespread acceptance.
PROGRAM EFFECTS ON DECREASING MORBIDITY AND MORTALITY
Authors: Grover Ranjeet 
Published: December 2021

Our experience demonstrates that the diagnosis of sickle cell disease at birth along with early intervention can reduce mortality among identified patients. However, accurate screening of newborns in the absence of a comprehensive follow-up program is of limited value.
Our experience with trait follow-up indicates that couples at risk should be sought both by testing the parents of trait newborns and by testing the mothers in the prenatal period.
Our recommendations are that programs for sickle cell screening of newborns should be structured on the basis of clearly defined goals and should ensure the following services: a newborn screening laboratory under strict quality control with backup facilities for special test procedures and interpretation of test results; an efficient and effective mechanism for recall of infants with presumptively positive results and referral of patients with the sickle cell disease diagnosis; treatment centers with a high standard of medical care to provide comprehensive care to patients with sickle cell disease and their families; skilled genetic counseling for the families of newborns with sickle cell disease and trait, including the information available concerning prenatal diagnosis for couples at risk; broadbased and ongoing education for professionals, paraprofessionals, and the public at large to enhance their understanding and cooperation; means to evaluate the effectiveness and success of the program in achieving the goals set forth.
Newborn Experience in the Cooperative Study of Sickle Cell Disease
Authors: Gill Frances M. , Brown Audrey , Gallagher Dianne , Diamond Steven , Goins Eleanor , Grover Ranjeet , Lubin Bertram , Moore Gloria , Gaston Marilyn H. 
Published: December 2021

In 1978, the National Heart, Lung, and Blood Institute of the NIH initiated a large-scale, multiinstitutional collaborative study to investigate the clinical course of sickle cell disease from birth to death. Twenty-three institutions participate in the cooperative study, of which 19 have pediatric components. Newborn screening is performed in 18 institutions. Centers are located along the east coast, and in the South, the Midwest, and California. Both rural and urban populations are represented in the study. This Cooperative Study of Sickle Cell Disease has been described in detail.
MATERIALS AND METHODS
Newborn screening began in late 1978, and patient entry began in 1979. Between late 1978 and August 1986, 633 infants were found to have a hemoglobin pattern of FS and 326 were found to have FSC. A major effort was made to enroll these infants with sickle cell disease in the cooperative study. Other infants whose diseases were not diagnosed by screening but referred to the centers were also enrolled. From these two sources a total of 600 infants less than 6 months of age had been enrolled in the study as of August 1986. Diagnoses were established by cellulose acetate and citrate agar gel electrophoreses or by isoelectric focusing studies.
The children have been followed up regularly at the study centers. Visits are scheduled for the ages of 2, 4, 6, 9, 12, 15, 18, 21, and 24 months and twice yearly thereafter. During the visits an interval history is obtained, a complete physical examination is performed, and developmental state is assessed.
APPROACHES TO SCREENING
Authors: Harris Mary S. , Eckman James R. 
Published: December 2021

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980.
The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing.
The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation.
Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).
New York's Experience
Authors: Diaz-Barrios Vivien 
Published: December 2021

In 1964, the New York State Public Health Law, §2500a, set the stage for mandatory newborn screening. By 1978, testing was already under way when the last of the total of eight diseases was added. Screening for homozygous sickle cell disease was included in 1975. Specimens submitted from 1975 to 1984 totaled nearly 2.5 million, and these specimens were sent to four different laboratories in New York state. New York City, with the largest population of newborns, sent the largest proportion of specimens (1.1 million).
Although testing was occurring, it was not until 1979 that citywide follow-up was established. Follow-up efforts were coordinated through the New York City Department of Health in cooperation with 52 hospitals. Of these hospitals, 25 received New York state funding for the provision of genetic services, which included testing and counseling for parents of children whose test results were positive for trait or disease. A cooperative effort was set up between the New York City Department of Health and health providers, who agreed to provide follow-up for newborns with all hemoglobinopathies at their respective hospitals. In cases of sickle cell disease, efforts were made to obtain second specimens from affected infants. In cases in which this was difficult, New York City Department of Health aids visited the home and obtained the specimen, counseled the parents, and arranged for further follow-up.
Other cooperative efforts occurred when various genetic or sickle cell centers came together and organized committees. Two major committees, the Sickle Cell Advisory Committee, and its executive arm, the Implementation Committee, in which all providers of genetic services throughout the state are represented, met to discuss statewide problems, to identify needs, and to formulate policy.
Follow-up of Children With Trait in a Rural Setting
Authors: Harris Herman 
Published: December 2021

The Comprehensive Sickle Cell Centers were established in 1972 to test, educate, counsel, and research sickle cell anemia and related hemoglobinopathies. Standards and protocols for testing, education, and research were readily established because similar procedures and methods were already in operation at the institutions where the centers were located.
The most difficult and still the most controversial program to provide is counseling. It became evident, early, that there is no universally accepted method for informing carriers of abnormal Hb S about their results.
Centers located in large urban areas with a limited testing radius do not face the same problems as centers located in rural areas where the testing radius may cover an entire state or several states.
Individual, or one-on-one, counseling of persons with trait results appears to be successful for urban centers where the individual may be called to the center and given information. But, in a rural setting, it is not feasible for the center to ask a person to travel 350 miles to be told he or she has nothing to worry about. And it is not cost-effective to send a caseworker 350 miles to say the same thing. It must, therefore, be concluded that each agency or center must adopt counseling methods that meet its specific needs. Each program must be flexible, imaginative, and creative and must successfully and accurately deliver information about being a carrier for the sickle gene or other hemoglobinopathy and its implication and significance for patients and their future offspring.
To do this, we must first look at the problems facing us.
Screening of the Mother During Early Pregnancy
Authors: Rooks Yolanda 
Published: December 2021

Screening for the early diagnosis of sickle cell disease has been advocated as essential for reducing infant mortality and morbidity. The provision of comprehensive and preventive care optimizes the chance for a longer and more healthy life by minimizing the detrimental complications that often occur in early life. Accordingly, the goals of early identification and intervention include preventing complications through the anticipation of medical problems, educating the family so that they become knowledgeable about sickle cell disease and how it may affect their child, and assisting the family in identifying specialized medical centers where appropriate care and follow-up will occur.
MATERIALS AND METHODS
The target population in New Haven, CT, was defined as black and Puerto Rican gravida women giving birth at Yale Medical Center. Screening these at-risk pregnant women and the fathers permitted prior identification of the newborn at risk. This was perceived to be a method of decreasing the number of cord blood specimens to be screened as well as increasing the yield.
Screening guidelines mandated education, informed consent, and appropriate follow-up for parents whose infants were identified to be heterozygous or homozygous for a sickle variant. The protocols for sample collection and sample testing were established. Hemoglobin electrophoresis was performed by the following two techniques: (1) cellulose acetate at pH 8.4 and (2) citrate agar gel at pH 6.2. The latter technique facilitates the identification of Hb S and Hb C in the presence of large amounts of Hb F3.
The screening program was introduced to the medical community and support staff.
LESSONS FROM THE THIRD WORLD
Authors: Sissman Norman J. 
Published: December 2021

American pediatricians are often unaware of significant developments in international health, especially when they are reported in non-pediatric journals. A case in point is summarized by this abstract of a study from Java:
In a controlled trial, fortification of commercially marketed monosodium glutamate (MSG) with vitamin A improved serum vitamin A levels of young children and the vitamin A content of breast milk of lactating women. These improvements in vitamin A indices were accompanied by dramatic changes in health and anthropometric status. During the course of the study, the prevalence of Bitot's spots among children in program villages fell progressively from 1.2% at base line to 0.2% 11 mo after introduction of the fortified product (p&lt;0.001) xerophthalmia rates in control villages remained essentially unchanged. Linear growth was greater among program than among control children at every age. Hemoglobin levels among program children rose by ∼10 g, from 113 ± 16 g/L at base line to 123 ± 16 by 5 mo (p&lt;0.0001); they remained essentially unchanged among children of control villages. Preschool children in control villages died at 1.8 times the rate of children in program villages. Am J Clin Nutr 1988;48:1271-6
These results are similar to those independently obtained in Sumatra, where Vitamin A capsules were given to preschool children at 6 month intervals (A. Sommer, et al: Impact of vitamin A supplementation on childhood mortality. Lancet 1986;1:1169) The data should stimulate inquiries into the mechanisms of the effect of Vitamin A on general health and mortality (in addition to its preventing xerophthalmia) and their relevance for nutritionally marginal children in the United States.
DR CHARLES WEST ON THE PROPER APPROACH TO THE ILL CHILD (1850)
Authors: C. T. E. 
Published: December 2021

Charles West (1816-1898), founder of the Children's Hospital, Great Ormond Street, London, has been described by Fielding H. Garrison, America's leading medical historian, as: "The greatest English pediatrist of his time, and perhaps the most genial practitioner of the art who ever lived." West's pediatric treatise, first published in 1848, opens with this admirable advice on the approach to the ill child.
The quiet manner and the gentle voice which all who have been ill know how to value in their attendants, are especially needed when the patient is a child. Your first object must be not to alarm it; if you suceed in avoiding this danger, it will not be long before you acquire its confidence; do not therefore, on entering the room, go at once close up to the child, but, sitting down sufficiently near to watch it, and yet so far off as to attract its attention, put a few questions to its attendant. While doing this, you may, without seeming to notice it, acquire a great deal of important information; you may observe the expression of the face, the character of the respiration, whether slow or frequent, regular or unequal, and if the child utter any sound, you may attend to the character of the cry. All your observations must be made without staring the child in the face, little children, especially if ill, seem always disturbed by this, and would be almost sure to cry. If the child be asleep at the time of your visit, your observations may be more minute; the kind of sleep should be noticed, whether quiet or disturbed, whether the eyes be perfectly closed during it, or partly open as they are in many cases where the nervous system is disordered: you may, too, if the sleep seem sound, venture to count the frequency of the respiration, and the beat of the pulse, but in doing this you should be careful not to arouse the child. It should be awoke gently by the nurse or mother, and a strange face should not be the first to meet its eye on awakening. If it were awake when you entered the room, it will probably in a few minutes have grown accustomed to your presence, and will allow you to touch its hand, and feel its pulse.
Follow-up or Weaning Formulas
Authors:   COMMITTEE ON NUTRITION
Published: December 2021

A high level of success in infant nutrition has been achieved in the United States by breast-feeding as preferred, or by feeding with iron-fortified infant formulas. Minor controversies about feeding choices occur when infants are weaned from an all liquid diet to one containing a variety of solid foods.
Weaning is not a single event but a process that takes place throughout a number of months, beginning optimally between 4 and 6 months of age. The nutritional objective is to achieve a varied diet with approximately 35% to 50% of energy coming from sources other than breast milk or infant formula. Variety remains the key to the diet, particularly for infants older than 6 months of age. Solid food must provide an adequate source of iron, trace minerals, and vitamins to replace and supplement those in that portion of breast milk or formula removed from the diet.
Breast milk and fortified infant formula continue to be optimal for the milk segment of the diet during the second 6 months of life. The mother may choose to stop breast-feeding for a variety of reasons, however. The Committee on Nutrition has indicated that cow's milk could be substituted in the second 6 months of age provided that (1) the amount of milk calories consumed does not exceed 65% of total calories and (2) the solid food portion of the diet replace the iron and vitamins deficient in cow's milk.
Recently "follow-up" feedings (formulas) have been marketed in the United States as they have been in Europe for many years.
Proposed Treatment for Infants With Wolman Disease
Authors: WOLMAN MOSHE 
Published: December 2021

Presently available information indicates that Wolman disease is due to a defect in a single lysosomal enzyme molecule, called acid lipase, esterase, or cholesterol ester hydrolase (EC3.1.1.13). Cells of the reticuloendothelial system, hepatocytes, adrenocortical, and presumably many other cells normally, contain a neutral esterase associated with their microsomes, which is not deficient in Wolman disease.
Theoretically, catabolism of intracellular hydrophobic cholesterol (esters and triglycerides) should proceed normally in Wolman disease cells whenever the metabolic chain does not depend on lysosomal hydrolysis.
Oral Suction in the Delivery Room
Authors: BALLARD JEANNE L. 
Published: December 2021

Dr Kempen's point that the practice of orally suctioning neonates for meconium aspiration is no longer acceptable and should be abandoned is well taken. This is true not only because of the potential danger to the physician of acquiring human immunodeficiency virus but other sexually transmitted agents as well.
It is true that secretions obtained by oral suction are frequently ingested by the resuscitating physician. In a survey of pediatric residents, 74% reported having accidentally ingested secretions suctioned orally from neonates during 1 year of training.
Breed or Meadow?—Munchausen or Münchhausen?
Authors: M R. J. 
Published: December 2021

To pick another nit, the name Munchausen is an anglicization apparently coined by R. E. Raspe and his English publisher in 1786 and since perpetuated.
Freiherr von Münchhausen, after whose tall tales the syndrome was named, not only spelled his name with two hs, as noted by Meadow and Lennert (Pediatrics 1984;74:554-556), but also with an umlaut over the first u. Interestingly, Meadow and Lennert's article carried a picture of a book printed in Germany with the name correctly spelled on the cover but they, this editor and the copy editor all missed the discrepancy!
REVIEWS OF LAY LITERATURE ON CHILD CARE: WHAT PARENTS ARE READING
Authors: Glascoe Frances P. , Moore William R. , Henderson James , Martin Elaine D. 
Published: December 2021

Frankel A: Once Upon a Potty: His (Hers). New York, NY: Barron's: 1980; list price $4.95. (#3 on the 1988 bestseller list of books on child care of the Ingram Book Co, distributors of trade books).
It is hard to tell why this book is categorized with books on child-rearing. It is essentially a children's book without much information and virtually no guidance, except perhaps to emphasize that toilet training often takes a long time. Using the euphemisms, "poo-poo" and "wee-wee," the book colorfully and graphically depicts the story of Joshua, his new potty, and his first successful experience with it. The pictures show only a mother and not a father having a role. Young children may not recognize the potty as such because the example is atypical. The companion book is identical except that the leading character is named Prudence. The book is certainly easy to read and at an early elementary level.
Traumatic Monocular Blindness and Associated Carotid Injuries
Authors: KING MICHAEL A. , BARKOVICH ANTHONY J. , HALBACH VAN V. , HIESHIMA GRANT B. , EDWARDS MICHAEL S. B. 
Published: December 2021

Cases of traumatic carotid injuries have been described sporatically in the literature since the early 19th century. The general availability of angiography in the 1930s caused a significant increase in the number of articles published concerning this subject, but reports of carotid artery injuries remain uncommon. In one series of 2000 head injury patients, carotid injuries were recognized in only 0.5% of patients.
Of the various types of injury the carotid artery can sustain, the development of intracavernous false aneurysm is potentially the most devastating. The syndrome of traumatic monocular blindness and severe delayed epistaxis in association with carotid injuries and basilar skull fractures was first reported by Barth and more recently by Chambers et al. Mortality rates of 20% to 40% have been attributed to a delay in diagnosis.
Professional Liability Coverage for Residents
Authors: COHN BRAD 
Published: December 2021

As a member of the American Academy of Pediatrics' Committee on Liability, I have been asked to comment further on professional liability coverage for residents (Pediatrics 1989;83:311). The positions stated are satisfactory. However, the problems encountered by residents who "moonlight" under a professional liability coverage written on a "claims made" form were not addressed.
Most medical professional liability individual policies in the United States are now written on a "claims made" form. This classification means that the insured is covered only for claims arising and reported during the policy year for which a premium has been paid.