Problems of Early Infancy. Transactions of the Second Conference, March 1-2 1948, New York. With Supplement Covering Special Meeting, July 18-19, 1947, New York. Milton J. E. SennProblems of Infancy and Childhood. Milton J. E. Senn

1950 ◽  
Vol 25 (4) ◽  
pp. 420-420
Author(s):  
Helen Arthur
2021 ◽  
Vol 7 (2) ◽  
pp. 28
Author(s):  
Camille S. Corre ◽  
Dietrich Matern ◽  
Joan E. Pellegrino ◽  
Carlos A. Saavedra-Matiz ◽  
Joseph J. Orsini ◽  
...  

Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires identification and risk-stratification of patients based on laboratory values to predict disease onset in early infancy or later in life. The biomarker psychosine plays a key role in NBS algorithms to ascertain probability of early-onset disease. This report describes a patient who was screened positive for KD in New York State, had a likely pathogenic genotype, and showed markedly reduced enzyme activity but surprisingly low psychosine levels. The patient ultimately developed KD in late infancy, an outcome not clearly predicted by existing NBS algorithms. It remains critical that psychosine levels be evaluated alongside genotype, enzyme activity levels, and the patient’s evolving clinical presentation, ideally in consultation with experts in KD, in order to guide diagnosis and plans for monitoring.


PEDIATRICS ◽  
1948 ◽  
Vol 1 (4) ◽  
pp. 519-520

A special meeting of the Executive Board was held at the Palmer House, Sunday, February 8, 1948, with the President, Dr. John A. Toomey, presiding. There were present Drs. Toomey, Sisson, Stringfield, Beaven, Barba, London, Jr., Munns, McElhenney, Spickard, Hurtado, Grulee, Martmer, Wall, member of the Committee on Legislation—former Chairman of Committee, Wilson, Chairman of the Committee for Improvement of Child Health, Hubbard, Director of the Committee on Study of Child Health Services, Johnston, Chairman of the Committee on Medical Education and Conklin, Chairman of the Committee on Legislation. A recommendation for Federal support for pediatric education was discussed thoroughly. Changes were made in the original recommendations and the final action of the Executive Board is to be reported to the members of the Academy from the I.C.H. Committee. The Executive Board voted to give its official endorsement to the First International Poliomyelitis Conference to be held in New York. A financial report from Dr. Donovan J. McCune, treasurer of the Fifth International Congress of Pediatrics, was read. It was voted that should a member not pay his dues within the first six months of the Academy fiscal year, that his subscription to PEDIATRICS shall be discontinued until settlement is made. Dues for Latin-American members were raised from $10.00 to $15.00 a year beginning July 1, 1948. Dr. Hurtado was authorized to solicit funds from Latin-American branches of United States corporations for the purpose of obtaining money to publish the transactions of the First Pan-American Congress of Pediatrics. The resignation of Dr. Elmer C. Jackson, Blairstown, NJ., was accepted. Dr. Martmer discussed at length the matter of the Program for the coming meeting. It was suggested that the Seminars be increased both as to number of seminars and registrants. This was approved heartily. The question of Round Table Discussions was discussed also and in spite of the difficulties involved the present method of conducting them was approved. It was decided to conduct the Presentation of Awards at one session and the Business Meeting at another, the committee reports to be given at the Business Meeting. Dr. Martmer's report was accepted. An evening session for the Latin-American group was approved. Discussion of School Health Service Bill was then undertaken and the following report from the Committee on Legislation regarding this Bill was presented by Dr. Wall:


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