Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.

We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (21q), which are partly the phenotypic countertype of trisomy 21) are of paramount importance in the understanding of genes involved in the phenotype of Down syndrome. The goal is to find the relevant genes implicated in the main traits of Down syndrome (i.

Ethics and financing: overview of the U.S. health care system.

An overview of the financing decisions that occurred with the U.S. health system during the past five decades was presented in relation to the ethical issues which gave rise to and resulted from those financing decisions.

Advantages of outpatient breast surgery.

This article outlines surgical, financial, and psychosocial advantages of outpatient, definitive breast cancer surgery. The analysis of 118 patients who underwent outpatient breast cancer surgery between January 1991 and December 1993--20 modified radical mastectomy, 90 lumpectomy and axillary dissection or axillary dissection alone, and 8 partial or simple mastectomy--revealed only three patients with minor complications requiring admission. Same-day discharge was safely accomplished by early morning admission and using recovery room time for postoperative education.

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre-Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.

Nursing at a crossroads: managing without facts.

Literature on variables relating to nursing structures, nursing support systems, and patient classification systems contains discrepancies in definitions and methods. This lack of systematic research results in uncertainty and renders comparisons untenable.

Uniform labeling of a recombinant antibody Fv-fragment with 15N and 13C for heteronuclear NMR spectroscopy.

The expression of functional antibody fragments in Escherichia coli enables a detailed analysis by NMR spectroscopy. This is demonstrated with the uniform labeling of an Fv-fragment (25 kDa) comprising the antigen binding site of an antibody against 2-phenyloxazolone with 15N and 13C. The antigen-complexed Fv-fragment was analysed for a potential assignment by heteronuclear multi-dimensional NMR spectroscopy.

Use of 2D NMR, protein engineering, and molecular modeling to study the hapten-binding site of an antibody Fv fragment against 2-phenyloxazolone.

Two-dimensional (2D) 1H NMR spectroscopy was used to study the hapten-binding site of a recombinant antibody Fv fragment expressed in Escherichia coli. Point mutations of residues in the CDR loops of the Fv fragment were designed in order to investigate their influence on hapten binding and to make site-specific assignments of aromatic NMR proton signals. Two tyrosines giving NOEs to the ligand 2-phenyloxazolone were identified, residue 33 in CDR1 of the heavy chain and residue 32 in CDR1 of the light chain.

Thrombocytopenia--radial aplasia (TAR) syndrome with associated immune thrombocytopenia.

We report a 10 year old girl with congenital thrombocytopenia with absent radii (TAR) syndrome. Unusually this patient has shown no abnormal bleeding tendency despite numerous orthopaedic procedures. There is evidence of an associated immune component to the thrombocytopenia which has not been previously documented.

Sequential sampling in clinical cytogenetics: a quality control viewpoint.

We have observed that there is some resemblance between the problems of sampling in industrial quality control and the process of diagnosis of mixed cell populations in cytogenetics. This resemblance enabled us to draw from the methodology of the former science to solve some diagnostic problems in the latter. We considered which of the several sampling procedures available for quality control would be more efficient and more suitable in clinical cytogenetics, concluding that 'sequential sampling' combines both features.

A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases.

We report on a computer program that, given the breakpoints and the chromosomes involved in a translocation, generates all the possible imbalanced gametes, calculates their corresponding imbalances, and arranges them in order of increasing imbalance. When compared to current, more cumbersome criteria from the literature, both methods agreed on 196 cases of 199 (greater than 98%). When compared to observed data from families with aneuploid offspring, both our program and the other reported methods yield a rate of accurate prediction of 87%.

Familial congenital muscular torticollis: case report and review of the literature.

A family history of congenital muscular torticollis is uncommon. Only a small number of cases have been reported in the English literature. This is a report of five female children who are interrelated and have congenital muscular torticollis.

Impaired cell-mediated immunity in patients with cancer.

The ability of peripheral blood lymphocytes to respond in vitro to phytohemagglutinin (PHA) and to allogeneic cells in mixed leukocyte reaction (MLC) was studied in 85 patients with cancer and in 50 healthy controls. The effect produced by sera from cancer patients on in vitro lymphocyte blastogenesis was tested on autologous cells and on homologous cells from a constant panel of 10 normal volunteers. Patients with cancer showed a distinct deficiency of cellular immune responsiveness reflected in a stage-related impairment of PHA and MLC reactivity.