[Neonatal respiratory distress caused by primary ciliary dyskinesia]. / Neonatale respiratoire problemen door primaire ciliaire dyskinesie.

Two newborns, both boys, presented with unexplained respiratory distress. One developed recurrent pneumonias in the first neonatal week and was diagnosed with primary ciliary dyskinesia at the age of 2.5 years. The other had respiratory problems besides a situs inversus totalis and was diagnosed with primary ciliary dyskinesia in the neonatal period. Although 65-90% of children with primary ciliary dyskinesia present with neonatal respiratory distress, the disease is often diagnosed after a considerable delay. Primary ciliary dyskinesia should be considered in newborns with unexplained respiratory problems and in children with recurrent respiratory problems. The disease is diagnosed by taking a nasal brush biopsy of the cilia and examining it using electron microscopy or using phase contrast microscopy. Early diagnosis and adequate treatment may prevent further lung damage.

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5'-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parents.

[X-linked lymphoproliferative syndrome]. / Het X-gebonden lymfoproliferatieve syndroom.

This report deals with the case history of a 21/2-year old Turkish boy, who died from an overwhelming mononucleosis infectiosa. The parents, first cousins, lost already two sons and a daughter. According to the parents, the symptoms of these children resembled those of this boy. In the patient, described here, an acquired immunodeficiency was found, probably induced by the Epstein-Barr virus on the basis of a genetic susceptibility for this virus. The family history, the clinical picture, together with the serological, immunological - and histological examinations, pointed to the diagnosis of X-linked recessive lymfoproliferative syndrome (XLP), as described by Purtilo. The immunological findings resemble those of AIDS (acquired immunodeficiency syndrome).

Predicting certification examination scores in a college-based program.

Factors that may predict student performance on the ARRT examination are discussed and statistically examined. For students in the program studied, performance on a simulated registry and grade point average proved to be statistically significant predictors of success. Implications of such models for student motivation are addressed, and a general need to explain differences in student performance is discussed as a step needed to facilitate examination of differences in various educational programs.

An immunoelectron microscopic study of human placenta using three monoclonal antibodies.

An immunoelectron microscopic technique was used to analyse the distribution in term human placentae at the ultrastructural level of three antigens recognized by recently developed monoclonal antibodies. Two of the antigens (recognized by NDOG-1 and NDOG-2) were present only on the outer villous membrane of the syncytiotrophoblast. The other (HLA-A, B, C) was absent from syncytiotrophoblast and present on some capillary endothelial cells and on Hofbauer cells in the villous stroma.

Enemies of abortion.

PIP: Throughout history various religious groups have worked to impose their moralistic view on others, and now the Catholic church in their Right to Life movement is focusing on dramatically exploiting the abortion issue with the use of inflammatory rhetoric, lurid propaganda and outright political blackmail. In 1972 the organized efforts of the New York Right to Life Committee brought about the repeal of that state's liberal abortion bill which was only saved by Nelson Rockefeller's veto. And, the movement has gained momentum since the Supreme Court decision in January 1973 in support of a woman's right to the decision of whether to terminate or continue a pregnancy. In pursuit of their current goal of reversal of the Supreme Court decision by a constitutional amendment, they swarmed into Washington on the anniversary of the decision to rally support for Rep. Lawrence J. Hogan's (Maryland) constitutional amendment which supports the concept of the fetus as a person from the moment of conception of life. Another bill is Senator Buckley's which grants protection to the fetus from the time a biologically identifiable being comes into existence and also allows for pregnancy termination if continuation would result in the death of the mother. Buckley's amendment has the support of some protestants, a few orthodox rabbis, the most conservative branch of the Lutheran church and members of some fundamentalist Christian sects. The National Association for the Repeal of Abortion Laws has been the only organization devoted to the single purpose of supporting legal abortion and the only one utilizing militant tactics to do so. The case for support of legal abortion is clear in that maternal deaths have declined from 35 per 100,000 in 1970, the year the abortion law was liberalized in New York, to 27 per 100,000 in 1972. Also, the number of admissions to Harlem Hospital for botched abortions dropped from 1,054 in 1965 to 292 in 1971, and the city's birthrate has declined 12%. Yet, the enemies of abortion gained a victory in December when the Senate passed the Buckley amendment which would ban Medicaid payments for abortion and again thereby would make legal abortion only available to the rich. Victories such as this can only be considered the beginning to the passage of a constitutional amendment, but the Right to Life movement must be recognized as the real threat that it is or women will lose their right to decide whether to continue or terminate a pregnancy before they even realize that this right is endangered.^ieng