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Biomedical subjects

D H Gutmann

Publications and source records attributed to D H Gutmann.

At least 127 records · Page 7Linked to original sources
PubMed1990

Complicated hereditary spastic paraparesis with cerebral white matter lesions.

A family is described with 5 males in a single generation affected with a previously undescribed complicated form of hereditary spastic paraparesis (HSP). The disease is characterized by speech difficulties, lower limb spasticity and hyper-reflexia, mental retardation, cerebellar ataxia, and tremor. The disease starts in the first decade of life and progresses for 3 to 6 years before stabilizing. Magnetic resonance imaging (MRI) of the brain demonstrates bilateral posterior periventricular white matter lesions. Visual evoked responses are markedly prolonged, but electromyography (EMG) and nerve conduction velocity studies are normal. Three of the 4 living affected members of this pedigree exhibit red-green color vision defects. The presentation of a new complicated hereditary spastic paraparesis syndrome in this pedigree extends our understanding of the variability and heterogenity of this syndrome and suggests an approach for the evaluation of similar families in future genetic studies.

Adolescent↗
PubMed1990

Personality changes associated with thalamic infiltration.

Mood and behavioral changes have been reported in patients with thalamic tumors. We report a case in which an infiltrating mass lesion of both thalami was manifested by an alteration in personality with relative motor and sensory sparing. These personality changes, unlike many such cases reported in the literature, were not related to increased intracranial pressure and hydrocephalus. Magnetic resonance imaging (MRI) demonstrated the lesion that was subtle and nearly inapparent on contrast-enhanced computerized tomography (CT).

Adult↗
PubMed1989

Hereditary retinal vasculopathy with cerebral white matter lesions.

We report on a syndrome of progressive visual loss and leukoencephalopathy affecting several relatives. Affected individuals had evidence of retinal vasculopathy on fluorescein angiogram and periventricular white matter lesions on brain magnetic resonance imaging. The clinical manifestations in this family suggest transmission of an autosomal dominant vasculopathy affecting both retinal and intracranial vessels.

Adult↗
PubMed1989

Molecular biology of Duchenne and Becker's muscular dystrophy: clinical applications.

Recent advances in molecular genetics have led to the isolation of the gene defective in patients with Duchenne and Becker's muscular dystrophy and the characterization of its protein product, dystrophin. In this communication, the developments culminating in the identification of the Duchenne muscular dystrophy locus are reviewed. The practical applications of this research and pitfalls that limit prenatal diagnosis and carrier detection are discussed.

Genetic Linkage↗
PubMed1989

Magnetic resonance imaging of ataxic hemiparesis localized to the corona radiata.

A 61-year-old woman developed right hemiparesis with homolateral cerebellar-type ataxia. Computed tomography and magnetic resonance imaging demonstrated left corona radiata lesions, not present on magnetic resonance imaging 1 year earlier. No brainstem lesions were identified, suggesting that ataxic hemiparesis can result from lesions in the corona radiata.

Ataxia↗
PubMed1989

Symptomatic hydrocephalus and reversible spinal cord compression in Listeria monocytogenes meningitis. Case report.

Central nervous system infections with Listeria monocytogenes result in varied clinical syndromes ranging from meningitis to rhomboencephalitis. A case of Listeria meningitis complicated by symptomatic communicating hydrocephalus and hydrostatic cervical cord compression is presented which clinically and radiographically improved with aggressive ventricular drainage.

Brain↗
PubMed1988

Nonfatal disseminated mucocutaneous herpes simplex type 2 infection in a healthy woman.

Disseminated mucocutaneous herpes simplex virus (HSV) infection in nonpregnant and healthy women is a rare manifestation of primary genital inoculation. The literature contains relatively few cases of this type of infection in nonimmunocompromised adults. Furthermore, the majority of adult disseminated mucocutaneous infections have fulminant courses and terminate in death. In this report, a case of nonfatal disseminated mucocutaneous HSV type 2 infection is described in a nonimmunocompromised woman with a childhood history of immune thrombocytopenia purpura and splenectomy.

Acyclovir↗
PubMed1985

Major histocompatibility complex regulation of the immune response.

The ability of an organism to distinguish self from nonself is determined by a cluster of genes located in the major histocompatibility complex. Recent advances in molecular genetics and cellular immunology have begun to elucidate the mechanisms responsible for immune response regulation. In this review article, the genetic organization of the murine and human major histocompatibility complexes and the manner by which their gene products modulate immune responsiveness are discussed.

Animals↗
PubMed1985

Separation of the immune response genes for LDH-B and MOPC-173. III. Evidence that the failure of B10.BASR1 to respond to LDH-B is due to an antigen-presenting cell defect.

Analysis of the immune response of a panel of intra-I-region recombinant mouse strains to LDH-B and MOPC-173 demonstrated that B10.ASR7 (H-2as3) and B10.BASR1 (H-2as4) failed to mount T-cell-proliferative responses to MOPC-173 and LDH-B, respectively. To localize the level of the immune response defect in the B10.BASR1 strain, B10.BASR1 macrophages were shown to be incapable of presenting LDH-B to immune responder B10.ASR7 T cells. These results were confirmed using alloreactivity-depleted and (B10.ASR7 X B10.BASR1)F1 immune T cells. Failure of these strains to respond was shown not to be the result of T cell suppression, because cyclophosphamide and anti-Lyt-2.2-plus-complement treatments did not restore responsiveness. Furthermore, B10.BASR1 macrophages were incapable of educating naive responder T cells in vitro to LDH-B--however, naive nonresponder B10.BASR1 T cells could be educated by responder macrophages to LDH-B in vitro. These results suggest that the failure of B10.BASR1 to respond to LDH-B reflects a defect at the macrophage-T cell interaction level, perhaps related to expression of unique I-A molecules created by intra-I-region recombinatorial events.

Animals↗
PubMed1984

In-vitro-derived bone marrow macrophages. Expression of Ia antigens during macrophage differentiation.

Cultures of bone marrow stem cells, grown in the presence of L-cell-conditioned medium, were harvested on successive days to determine the expression of Ia antigens and the acquisition of Ir4 gene-regulated antigen presentation. I-A subregion antigen expression was detected by an indirect radiobinding assay (RBA) as early as day 3 and reached maximal binding at day 7, before declining with additional time in culture. Indirect immunofluorescence (IIF) demonstrated 20% Ia+ cells on day 3 of culture and peaked at 60% on day 7 before declining with continued incubation. A mixed lymphocyte reaction (MLR) across an I region difference was used to assess the kinetics of bone-marrow-derived macrophage ( BMDM ) Ia expression. Maximal stimulation occurred with BMDM stimulator cells obtained from 5-9-day cultures. To investigate the acquisition of Ir gene function, BMDM harvested after various days in culture were used to reconstitute the T cell proliferative response to poly Glu60Ala30Tyr10 (GAT). The ability of BMDM to present GAT was detected after day 5, increased to maximal levels on day 7, and then declined with weak proliferative responses obtained using day 12 BMDM . The presentation of GAT by BMDM was inhibited by monoclonal anti-Ia. 17 antibody. Thus, the acquisition of Ir gene function by BMDM was found to parallel the expression of Ia molecules. Additional experiments were performed to determine whether treatment of BMDM at day 7 with lymphokines or beta-interferon could extend Ia antigen expression. Whereas treatment of day 7 BMDM cultures with Con-A-stimulated rat splenocyte supernatants extended and augmented Ia expression for an additional three days, beta-interferon treatment did not result in augmentation or extension of Ia antigen expression.

Animals↗
PubMed1984

Separation of the immune response genes for LDH-B and MOPC-173. II. Description of an immune response defect in B10.ASR7.

By using the intra-I region recombinant mouse strain B10.ASR7 (H-2as3), the immune response (Ir) genes for LDH-B and MOPC-173 were genetically and serologically separated, as assayed by T cell proliferation. Previous work demonstrated that H-2s and H-2b strains respond to LDH-B and MOPC-173 whereas H-2a and H-2k strains failed to respond due to haplotype-specific suppression of I-Ak molecule-activated T helper cells by I-Ek molecule-activated T suppressor cells. In the experiments reported here, B10.ASR7 mice, which lack I-Ek expression, mounted a significant T cell proliferative response to LDH-B but not to MOPC-173. Separation of the Ia determinants used in restricting these two antigen responses was further confirmed when pretreatment of B10.S(9R) (A beta sA alpha sE beta sE alpha k) macrophages with A.TL anti-B10.HTT serum (anti-As beta Es beta Js) adsorbed with B10.ASR7 spleen cells blocked the MOPC-173 response but not the LDH-B response. Unadsorbed serum blocked both antigen responses. The B10.ASR7 E beta allele was determined to be s due to the ability of (A.TL X B10.ASR7)F1 hybrids to mount a T cell proliferative response to the terpolymer GLPhe. Monoclonal antibody blocking of the B10.ASR7 T cell proliferative response to LDH-B demonstrated that the Ia.2 and Ia.17, and not the Ia.15 epitopes are spatially related to the Ia epitopes involved in the restriction of the B10.ASR7 LDH-B T cell proliferative response. In addition, B10.ASR7 helper T cells generated in response to LDH-B were suppressed in a haplotype-specific manner by I-Ek molecule-restricted suppressor T cells in that (A.TL X B10.ASR7)F1 hybrids failed to respond to LDH-B. This nonresponsiveness was eliminated by treatment with monoclonal antibodies directed against the I-Ek molecule. These results suggest the possibility that the immune response defect in B10.ASR7 could be related to the site of recombination.

Alleles↗
PubMed1983

Separation of the immune response genes for LDH-B and MOPC-173. I. Description of an immune response defect in B10.BASR1.

By using the intra-I-region recombinant mouse strain, B10.BASR1 (H-2as4), the immune response (Ir) genes for LDH-B and MOPC-173 were genetically and serologically separated, as assayed by T cell proliferation. Previous work demonstrated that the H-2s and H-2b strains respond to LDH-B and MOPC-173, whereas the H-2a and H-2k strains failed to respond due to haplotype-specific suppression of I-Ak-activated T helper cells by I-Ek-activated T suppressor cells. In the experiments reported here, B10.BASR1 mice, which lack I-Ek expression, mounted a significant T cell proliferative response to MOPC-173 but not to LDH-B. Separation of the Ia determinants used in restricting these two antigen responses was further confirmed when pretreatment of B10.S(9R) (A alpha sA beta sE beta sJk) macrophages with A.TL anti-B10.HTT (anti-A beta sE beta sJs) serum absorbed with B10.BASR1 spleen cells blocked the LDH-B response but not the MOPC-173 response. Unabsorbed serum blocked both antigen responses. The primary immunogenic determinant recognized by LDH-B or MOPC-173 immune T cells was not present on both antigens, as MOPC-173-primed T cells and LDH-B-primed T cells responded only to the priming antigen. Lastly, by using the A beta mutant strain, B6CH-2bm12, it was shown that the Ir gene and Ia determinants affected by this mutation had no effect on the LDH-B and MOPC-173 proliferative responses. These results suggest the possibility of an intragenic recombinatorial event in either the A alpha or A beta chain resulting in the separation of these two immune response gene functions.

Animals↗
PubMed1982

Characterization and expression of H-21 region gene products on bone marrow-derived macrophages.

Antigen-presenting macrophages (M phi) were derived from day 7 cultures of bone marrow stem cells using L cell conditioned medium. The adherent bone marrow-derived macrophages (BMM phi) were 100% esterase-positive, 95% positive for C3 receptors, 93% positive for Fc receptors, and 95% actively phagocytic. Indirect immunofluorescence using anti-Ia monoclonal antibodies resulted in 60% Ia-positive BMM phi on day 7 of stem cell culture. BMM phi could stimulate mixed lymphocyte reaction (MLR) proliferation across an I-A subregion difference, but not across I-J subregion differences. This contrasted with splenic M phi which stimulated MLR proliferation across both an I-A and I-J subregion difference. The apparent lack of I-J subregion determinants on BMM phi correlated with their ability to function as antigen-presenting cells. In these experiments, BMM phi effectively reconstituted the trinitrophenyl-specific IgM plaque-forming cell (PFC) response of B cells but not the primary burro red blood cell (BRBC)-specific IgM-PFC response of M phi-depleted spleen cells. When BMM phi were added to BRBC-primed T and B cells, they reconstituted the secondary IgG PFC response to levels obtained using splenic M phi. These experiments relate the differential expression of H-21 region determinants on antigen-presenting cells with their functional capacity.

Animals↗
PubMed1982

The use of restriction endonucleases in the prenatal diagnosis of hemoglobinopathies.

Enzymes which fragment DNA at specific sites have been used to prenatally detect sickle cell anemia, alpha-thalassemia, and beta-thalassemia from amniotic fluid aspirates. Within the last few years, the use of combined restriction endonuclease systems (EcoRI and HindIII) for the antenatal detection of sickle cell anemia was found to provide an exact diagnosis of sickle cell status in 80% of couples at risk. Similar systems have been developed for homozygous alpha- and beta-thalassemia. Clinical applications of this technique and future implications are discussed.

Amniocentesis↗