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Biomedical subjects

D Kaufman

Publications and source records attributed to D Kaufman.

At least 127 records · Page 7Linked to original sources
PubMed1986

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.

A search for the defective gene causing torsion dystonia has been carried out in a family manifesting an autosomal dominant mode of inheritance of this movement disorder. Complete neurologic examination and establishment of lymphoblast lines have been carried out for over 50 members. Linkage analysis, using cloned DNA sequences and restriction fragment length polymorphisms, was evaluated by the LOD score method with requisite assumptions for mode of inheritance, age-of-onset and incomplete gene penetrance. Genes for pro-opiomelanocortin and glutamic acid decarboxylase, which have been implicated in the etiology of the disease in rat models, were excluded as being responsible for the disease state in this family. Other regions of the genome were also excluded using DNA probes for other genes and random "unique" sequences.

Adolescent↗
PubMed1986

Secretion of an insulin-like growth factor-I-related protein by human breast cancer cells.

Somatomedin activity is required for proliferation of normal cells; recently somatomedin activity in the cellular environment was shown to be necessary for expression of the transformed phenotype. We demonstrate here that authentic serum-derived insulin-like growth factor-I (IGF-I) stimulates the proliferation of four human breast cancer cell lines, MCF-7, MDA-MB-231, ZR-75-1, and Hs578T in serum-free monolayer culture and that each of these lines produces and secretes an IGF-I-related growth factor. The two highly tumorigenic estrogen-independent cell lines, MDA-MB-231 and Hs578T, produced 2- to 10-fold more IGF-I than did two estrogen responsive cell lines, MCF-7 and ZR-75-1, which are not tumorigenic in the absence of estrogen. These breast cancer cells also secrete a Mr 50,000 binding activity which partially obscured detection of IGF-I by radioimmunoassay. Acid-ethanol extraction allowed dissociation of the high molecular weight complex; whereupon, fully immunoreactive IGF-I comigrated on acid gel exclusion chromatography with authentic human serum-derived IGF-I. Radioimmunoassay displacement curves for breast cancer cell line-derived IGF-I were parallel to those for authentic IGF-I. Northern blot analysis of mRNA from four breast cancer cell lines demonstrated specific hybridization with a human IGF-I probe corresponding to one of the two major transcripts seen in human liver mRNA. These data suggest that breast cancer cell line-derived IGF-I is similar to liver-synthesized, serum-derived IGF-I.

Breast Neoplasms↗
PubMed1985

Simultaneous recording of pattern electroretinogram and visual evoked responses in neuro-ophthalmologic disorders.

Simultaneous pattern electroretinograms (P-ERG) and pattern visual evoked potentials (P-VEP) to transient and steady-state checkerboard pattern reversal were recorded in 52 normal volunteers. Twenty-seven patients were also studied. Three patterns of abnormalities emerged. Pattern 1 with prolonged P-ERG, prolonged P-VEP, and normal retino-cortical time (RCT) was found exclusively in early maculopathies. Pattern 2 with normal P-ERG, prolonged P-VEP, and prolonged RCT was found in optic nerve lesions without optic atrophy, probably indicating the presence of a demyelinating lesion of the optic nerve. Pattern 3, with very small or absent P-ERG and P-VEP, was observed in both maculopathies and optic atrophies.

Adult↗
PubMed1985

Pattern ERGs and visual evoked potentials in maculopathies and optic nerve diseases.

Normative data were obtained in 52 volunteers to both transient and steady-state checkerboard pattern reversal. Two sizes of checks subtending 15' and 31' of visual angle were used. The simultaneous recording of pattern ERGs (P-ERGs) and visual evoked potentials (VEPs) permitted the determination of the retinocortical time. That is, the transit time expressed in milliseconds between the activation of retinal structures and the arrival of the signal in the visual cortex. Three groups of patients with maculopathies, optic atrophy, and suspected optic nerve demyelination were also studied. Early maculopathies were characterized by delayed P-ERG b-waves and delayed VEPs but normal retinocortical time. Optic nerve demyelination was characterized by normal P-ERGs, delayed VEPs, and prolonged retinocortical time. Optic atrophy and established maculopathies were characterized by abnormal P-ERGs and VEPs. The implications of these findings were discussed.

Adult↗
PubMed1984

Respiratory cryptosporidiosis in the acquired immune deficiency syndrome. Use of modified cold Kinyoun and Hemacolor stains for rapid diagnoses.

We report three cases of primary intestinal cryptosporidiosis with bilateral interstitial pneumonia. The diagnoses were made using two rapid (one-minute) staining procedures, modified cold Kinyoun's solution and a Hemacolor set, on touch preparations of lung biopsy material, sputum, and stool. Intracellular cryptosporidia oocysts in alveolar macrophages suggest possible hematogenous spread of this agent. Opportunistic cryptosporidiosis should be included in the differential diagnosis of pneumonia in patients with acquired immune deficiency syndrome.

Acquired Immunodeficiency Syndrome↗
PubMed1984

Spontaneous contrast in the inferior vena cava in a patient with constrictive pericarditis.

A 66 year old black man was examined because of fatigue and progressive right heart failure. A striking finding on his echocardiogram was intense and slow-moving contrast in the inferior vena cava. Cardiac catheterization revealed constrictive pericarditis, and pericardiectomy was performed. Postoperatively, spontaneous contrast was no longer present. This case helps explain the origin of spontaneous inferior vena cava contrast.

Aged↗
PubMed1984

Similar renal allograft functional survival rates for kidneys from sibling donors matched for zero-versus-one haplotype with the recipient.

From January 1968 to December 1983, 536 primary renal transplants from siblings donors were performed at a single institution; of the donor-recipient pairs, 246 were matched for two, 205 for one, and 43 for zero HLA haplotypes. Renal allograft functional survival rates at two years were 93%, 75%, and 83% for the 2, 1, and 0-haplotype matched pairs. Corresponding patient survival rates were 95%, 85%, and 93%. The functional survival rate of grafts from the HLA-identical sibling donors was significantly better than the rates in both mismatched donor groups (P = .004), but the difference between the one-haplotype and the zero-haplotype matched pairs was not significant. Most transplant units do not perform transplants between siblings mismatched for both haplotypes because it is assumed that the graft survival rates will be inferior to what can be achieved with a one-haplotype match, and that the outcome will be no better than with cadaveric transplantation. Our results do not support that presumption. Although HLA-identical siblings are the best donors, a sibling should not be excluded as a donor simply because he or she is a complete mismatch. The graft survival rate (83%) is still superior to that achieved with cadaveric transplants (64% at two years, n = 618), and is at least as good as that achieved with transplants from siblings matched for one HLA haplotype. The advent of donor-specific blood transfusion has resulted in liberalization of criteria for acceptance of related donors, but the results of our analysis suggest that a liberal policy, at least in regard to haplotype matching, has always been justified--and certainly at this time the recipient with a willing living donor, regardless of match, should not be relegated to receive a cadaver graft (a scarce resource) that could otherwise be transplanted to someone else who does not have a related donor.

Graft Survival↗
PubMed1983

Platysma myocutaneous flap for intraoral defects.

The use of myocutaneous flaps has resulted in improved methods for reconstruction involving the head and neck area. The platysma myocutaneous flap offers an excellent alternative for reconstructing appropriate oral cavity defects resulting from tumor ablation. It has certain advantages over other local or distant pedicled flaps and has been proved to be a reliable alternative for single-stage repair of these defects. The technique of this flap is described and a review of its use in six cases, including complications, is discussed.

Carcinoma, Squamous Cell↗
PubMed1983

Differences in susceptibility to rejection of mouse pancreatic islet allografts disparate for class I or class II major histocompatibility antigens.

Pancreatic islet B cells express class I but not class II antigens, and removal of Ia positive passenger cells from H-2 allogeneic islets by anti-Ia serum and complement leads to permanent allograft survival. A test was made of whether the same result can be achieved by genetically removing the Ia stimulus by performing mouse islet allografts in congenic donor-recipient combinations differing at the H-2 K only, D only, or K + D regions. Mice disparate for class I antigens (H-2 K, D, and K + D) alone reject islet allografts, suggesting that Ia positive passenger cells may be involved in presentation of class I disparities. Established islet allografts appear to be sensitive to rejection induced by injection of donor strain splenocytes when donor and recipient differ for class I (H-2 D alone and D + I) but not class II (H-2 I alone) antigens. These results are consistent with the hypothesis that pancreatic islet allografts do not express class II target antigens, but do express class I antigens that in long-established pancreatic islet allografts are capable of acting as targets but not in initiating an immune response.

Animals↗
PubMed1983

The effect of mismatching for HLA-DR in recipients of renal allografts sharing one HLA-ABC haplotype with related donors.

The effects of mismatching for DR antigens on renal allograft survival rates have largely been restricted to analyses of cadaver transplant results. Analyses of HLA matching in recipients of transplants from related donors have focused on the number of haplotypes shared between the recipients without regard to DR, or on the total number of HLA antigens mismatched, or on the degree of MLC responsiveness of the recipient to the donor. Most related donor-recipient pairs sharing only one HLA haplotype will be mismatched for DR at the other haplotype, but because there are a limited number of DR alleles, sharing of DR antigens on the mismatched haplotypes occurs relatively frequently. To determine the influence of mismatching for DR on the fate of renal allografts from related donors, we analyzed the results of 172 kidney transplants from related donors who shared one HLA-ABC haplotype with the recipient. There were 156 primary grafts and 16 retransplants; 147 donor-recipient pairs were satisfactory typed for DR antigens. Because genotyping was not usually done, we performed two analyses under two different assumptions. The first assumption was that individuals expressing less than or equal to 1 DR antigen had null antigens, or were homozygous for DR; the alternative assumption was that blanks were true antigens and individuals with blanks were heterozygous. The first assumption is more likely to be correct, and is the assumption used in most analyses of the effect of DR antigen mismatches on the results of cadaveric transplantation. Under the first assumption, of the 147 related donor-recipient pairs in whom DR typing was satisfactory, 33% were mismatched for 0, 64% for 1, and 3% for 2 DR antigens. The one-year absolute graft survival rates in recipients of kidneys from donors with 0 mismatches for DR was 92% (n = 49); in those with one mismatch for DR it was 82% (n = 94); and from those with two mismatches it was 50% (n = 4). The one-year graft survival rate in 25 donor-recipient pairs in which one or both members could not be satisfactorily DR typed was 76%. Differences in graft survival rates between the 0 and 1 and the 1 and 2 DR-mismatched groups were not statistically significant.(ABSTRACT TRUNCATED AT 400 WORDS)

Graft Rejection↗
PubMed1981

Tuberculoma of the nasopharynx.

When a patient of oriental extraction was seen with a mass in the nasopharynx, squamous cell carcinoma appeared to be the obvious diagnosis. Histologic examination, however, proved the mass to be a tuberculoma. This condition, which was not rare in the past, is almost always secondary to pulmonary tuberculosis. It responds to antituberculous medications.

Carcinoma, Squamous Cell↗
PubMed1980

Noncontraceptive estrogens and myocardial infarction in young women.

The effect of noncontraceptive estrogens on the risk of myocardial infarction (MI) in women aged 30 to 49 years was investigated in 477 women with first infarctions and in 1,832 hospital control subjects. There was little evidence of an effect: overall, the estimated relative risk of acute MI for women who had used noncontraceptive estrogens in the preceding month, after allowance for potential confounding factors, was 1.0 (95% confidence intervals, 0.6 to 1.7); the corresponding estimate for women who had discontinued use more than one month previously was 1.2 (0.8 to 1.8). There was also no apparent association in various subgroups, including women who smoked heavily and those who had no identified predisposition.

Adult↗
PubMed1980

CT in the early diagnosis of herpes simplex encephalitis.

Herpes simplex is the most common cause of sporadic viral encephalitis. The recent development of specific antiviral chemotherapeutic agents offers new optimism for patients with this disorder if therapy is begun on or before the fifth day of the disease. Eight patients with herpes simplex encephalitis were studied by CT, and a characteristic but not pathognomonic pattern was observed. In each case a low density lesion was noted in the medial portion of the temporal lobe with extension into the Island of Reil. Sparing of the lenticular nucleus was observed in all cases. Mass effect and streaky linear enhancement after contrast administration was also seen. Unfortunately, the findings may be subtle or absent before the fifth day of disease, and thus CT scans must be examined with a high index of suspicion if the correct diagnosis is to be made at a time when therapy may prove useful. Hemorrhagic areas are rarely observed on CT in this disorder despite the frequent occurrence on pathologic studies. The full extent of involvement may not be appreciated on scans obtained during the first 10 days of the disease.

Adult↗