Biomedical subjects

J J Biemer

Publications and source records attributed to J J Biemer.

4 recordsLinked to original sources

PubMed1976

Atypical retinitis pigmentosa in familial hypobetalipoproteinemia.

Of three patients with familial hypobetalipoproteinemia, a 42-yeear-old white woman, who was homozygous for this autosomal dominantly inherited disease, had no detectable serum betalipoprotein and had a marked retinal pigmentary degeneration characterized by ring scotomas by Goldmann perimetry, extinguished electroretinographic responses, delayed responses and elevated thresholds during dark adaptometry, and abnoramal cone thresholds. A 4-year-old daughter and a 28-year-old niece of the first patient, who wer heterozygous, had reduced but detectable levels of serum betalipoprotein and no significant retinal pigmentary degeneration. Unlike patients with autosomal recessively inherited abetalipoproteinemia (the Bassen-Kornzweig syndrome), none of our patients had significant neurologic of cardiac defects. Although the level of serum betalipoprotein might be correlated with retinal pigmentary degeneration in familial hypobetalipoproteinemia and abetalipoproteinemia, it appears that neurologic and cardiac defects are dependent on other factors.

Abetalipoproteinemia↗

PubMed1975

The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family.

A new case of abetalipoproteinemia (ABL) is reported after its recognition during an acquired hemorrhagic disthesis at parturition in a 37-year-old female. The new born infant of that delivery and 4 other first-degree relatives were subsequently studied and found to have hypobetalipoproteinemia (HBL). ABL and HBL, while sharing many clinical and biochemical similarities have, but rarely, been demonstrated within the same kindred and have, therefore, been regarded as different genetic mutations. Analysis of the data in the present and two other reported families indicates that ABL can result from the homozygous inheritance of the same gene which, when present in the heterozygous state, results in HBL't is concluded, therefore, that these cases of ABL have apparently been inherited via a different genetic mutation than most previously reported cases of ABL,and is likely the same gene involved in HBL. The clinical presentation of this form of ABL, that is, familial homozygous hypobetalipoproteinemia, is compared to that of the classical form of ABL.

Abetalipoproteinemia↗

PubMedDate not supplied

Malignant lymphomas associated with immunodeficiency states.

An increased incidence of malignant lymphomas is common to all types of immunodeficient patients whether they be of the natural or constitutionally occurring type, acquired as in acquired immunodeficiency syndrome (AIDS) or of iatrogenic origin as in organ transplantation. Although there is some degree of heterogeneity, the most characteristic feature of these immunodeficient states is alteration of T-cell cytotoxic function. The malignant lymphomas show a variety of relatively common features, notably: rapid onset following the appearance of the immunodeficient state, a high degree of clinical aggressiveness, and a tendency to present in extranodal sites, particularly the central nervous system (CNS) and gastrointestinal tract. The tumors are almost invariably of B-lymphocytic cell origin and while the histologic classifications reflect some diversity, the vast majority of tumors are described as Burkitt-like or diffuse large cell type. There appears to be a high degree of correlation with a preceding fulminant Epstein-Barr virus (EBV) infection resulting in marked B-cell lymphoproliferation in the absence of effective T-cell control. Initially, the B-cell proliferation is clearly polyclonal and reactive in nature, although as time evolves, there appears to be selection of oligoclonal and even monoclonal cell populations. Such cells are latently infected with EBV and may express EBV nuclear protein two and latent membrane protein, which are characteristically seen in proliferating B-lymphocytes in response to growth transformation by EBV. While desoxyribonucleic acid (DNA) probes may continue to demonstrate multiple lymphoid clonal populations, it is hypothesized that the hyperproliferative state favors genetic alterations which select out a single malignant clone. This transformed clone is evidenced by expression of a translocated, activated c-myc oncogene and decreased evidence of EBV nuclear protein two and latent membrane protein, that is, characteristics of Burkitt's lymphoma. Other large cell malignant lymphoma phenotypes may show similar findings. While most studies have continued to suggest that EBV plays a key role in the development of non-Hodgkin's lymphoma (NHL) of AIDS patients, some recent studies have suggested a less dominant role. Therefore, further exploration of the world of molecular biology will be needed to demonstrate whether other factors, namely additional viruses and/or oncogenes play a similar or significant role in the lymphomas of immunodeficient patients.

Acquired Immunodeficiency Syndrome↗

PubMedDate not supplied

Control of oral anticoagulant therapy.

In an effort better to standardize the control of oral anticoagulant therapy, it has recently been recommended that the prothrombin time be reported in the form of an International Normalized Ratio (INR) based upon calibration of the locally employed thromboplastin with an International Reference Preparation. It has been demonstrated in our laboratory that the INR does minimize the differences in results which ensue from variations in the source of thromboplastin and instrumentation and should hopefully allow for better interlaboratory comparisons in the future. Recent studies have also suggested that many American patients tend to be over anticoagulated and at greater risk for hemorrhage. Based upon those findings, over 40 percent of our specimens were above the currently recommended levels.

Administration, Oral↗