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J Briner

Publications and source records attributed to J Briner.

At least 37 records · Page 2Linked to original sources
PubMed1996

Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease.

A 7-month-old female cat was seen for abnormal facial features and abnormality of gait. Facial dysmorphism, large paws in relation to body size, dysostosis multiplex, and poor growth were noted, and mucopolysaccharidosis was suspected. A negative urine test for sulfated glycosaminoglycans and extreme stiffness of skin indicated a mucolipidosis hitherto unknown in animals. Deficiency of UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) activity was demonstrated in leukocytes and cultured fibroblasts, which had the appearance of inclusion cells (I-cells). Activities of a set of lysosomal hydrolases were abnormally low in fibroblasts and excessive in blood plasma. Postmortem morphology revealed lysosomal inclusions predominantly in fibroblasts but also in endothelial cells and chondrocytes, i.e., in cells of mesenchymal origin. Storage lysosomes contained oligosaccharides, mucopolysaccharides, and lipids. Tissues most affected were bones, cartilage, skin, and other connective tissues such as those in heart valves, aortic wall, and vocal cords. Parenchymal cells of liver and kidney were unaffected, as was skeletal muscle. Only a few of the cerebral cortical neurons had lipid inclusions; in sciatic nerve some axons were affected, but other peripheral nerves were normal. There were striking clinical, biochemical, and morphologic similarities between the disorder in this cat and the human I-cell disease.

Animals↗
PubMed1996

Distribution of the large aggregating proteoglycan versican in adult human tissues.

We studied the distribution of the large hyaluronan-binding proteoglycan versican (also known as PG-M) in human adult tissues using affinity-purified polyclonal antibodies that recognize the core protein of the prominent versican splice variants VO and V1. Versican was present in the loose connective tissues of various organs and was often associated with the elastic fiber network. Furthermore, it was localized in most smooth muscle tissues and in fibrous and elastic cartilage. Versican staining was also noted in the central and peripheral nervous system, in the basal layer of the epidermis, and on the luminal surface of some glandular epithelia. In blood vessels, versican was present in all three wall layers of veins and elastic arteries. In muscular arteries the immunoreactivity was normally restricted to the tunica adventitia. However, it appeared in the media and the split elastica interna of atherosclerotically transformed vessel walls. Our survey of the distribution of versican in normal human tissues now forms the basis for extended studies of potentially aberrant versican expression during pathogenic processes.

Adult↗
PubMed1995

Detection of several types of human papilloma viruses in AIDS-associated Kaposi's sarcoma.

Epidemiological studies indicate that acquired immunodeficiency syndrome (AIDS)-associated Kaposi's sarcoma (KS) may be caused by an infectious, preferentially sexually transmitted agent. Infections with human papilloma viruses are common, sexually transmitted diseases occurring frequently in homosexual men, who are also the main risk group for developing KS. In order to evaluate the possible role of HPV in the development of KS, 24 cutaneous AIDS-associated Kaposi's sarcomas were investigated by the polymerase chain reaction (PCR) and by in situ hybridization for the presence of human papilloma viruses (HPV). HPV DNA sequences were detected in 5 of 24 KS specimens, in 4 of 13 normal skin specimens from AIDS patients without KS and in 5 of 14 skin specimens of HIV-seronegative patients. For the first time, HPV types 6 and 33 were detected by PCR in KS. A higher proportion of HPV types 16/18 was found in AIDS-associated KS specimens, whereas HPV type 33 was seen more often in normal skin specimens of the control group. Apart from the known HPV types 16/18 described in KS, this study demonstrates also the presence of HPV 6 and 33 in this condition.

AIDS-Related Opportunistic Infections↗
PubMed1995

Determination of hexokinase isoenzyme I and II composition by RT-PCR: increased hexokinase isoenzyme II in human renal cell carcinoma.

Hexokinase isoenzyme composition has been noted to vary in different tissues and with the developmental and metabolic status of the cell. Until now these investigations were performed either by isoenzyme electrophoresis or by column chromatography. In this report we described an RNA-PCR method to evaluate the percentage of HK-1 and HK-2 in different rat tissues. Furthermore we applied the method to determine if a shift in isoform composition is detectable in human renal carcinomas compared to normal kidney tissue. In all of our specimens we were able to detect a shift toward HK-2 in the carcinoma specimens. We discuss a possible role for the detection of the shift in isoenzyme composition as a possible marker to discriminate between normal and malignant specimens.

Adult↗
PubMed1995

Occult hepatosplenic T-gamma delta lymphoma. Value of genotypic analysis in the differential diagnosis.

We report on a patient with a rare hepatosplenic gamma delta T-cell lymphoma (gamma delta TCL) presenting clinically with B-symptoms, hepatosplenomegaly and pancytopenia. During the initial stage of the disease the sparse malignant cells could not be detected histologically. Furthermore, their identification was obscured by massive macrophage proliferation with haemophagocytosis in the spleen. Diagnosis was established by detection of a clonal T-cell receptor (TcR) rearrangement and, retrospectively, by demonstration of rare cells expressing and aberrant T-cell phenotype. The findings in this patient emphasize that minimal neoplastic T-cell infiltrates can lead to severe clinical symptoms. Initial biopsy findings may be misinterpreted as benign. Gamma delta TCL may elaborate lymphokines that suppress haematopoiesis, leading to pancytopenia and macrophage proliferation.

Genotype↗
PubMed1995

Human herpesvirus type 6 and cytomegalovirus in AIDS-associated Kaposi's sarcoma: no evidence for an etiological association.

Epidemiological studies indicate that acquired immune deficiency syndrome (AIDS)-associated Kaposi's sarcoma (KS) may be caused by an infectious, preferentially sexually transmitted agent. Herpesviruses infections are common sexually transmitted diseases in homosexual men, who are also the main risk group for developing Kaposi's sarcoma. To evaluate a possible role of human herpesvirus-6 (HHV-6) and cytomegalovirus (CMV) in the development of AIDS-associated KS, we investigated cutaneous AIDS-associated KS in 26 AIDS patients using the polymerase chain reaction (PCR) and immunohistochemistry (IHC) to detect the presence of HHV-6 and CMV. Human herpesvirus-6 was detected in nine of 26 Kaposi's sarcoma specimens (all cases were HHV-6 subtype B) and in eight of 27 normal skin specimens from human immunodeficiency virus (HIV) seropositive and HIV seronegative patients (one case was HHV-6 subtype A and seven cases were HHV-6 subtype B). In two of four patients showing HHV-6 in KS of the skin, the virus also was detected in other investigated tissues, such as heart, lung, liver, kidney, and adrenals. Cytomegalovirus was detected only in AIDS-associated KS (seven of 26 KS specimens) and not in normal skin tissues of HIV-seropositive and HIV-seronegative patients. Cytomegalovirus was detected in other organs of those patients showing CMV in Kaposi's sarcoma. Our data indicate that the presence of HHV-6 and CMV in AIDS-associated KS most likely reflects disseminated viral infection. Human herpesvirus-6 and CMV may be cofactors but not the only causative agents for the development of AIDS-associated KS.

AIDS-Related Opportunistic Infections↗
PubMed1994

[Current diagnosis in pathology].

The introduction of modern methods into research and daily diagnostic practice of pathology has brought about major advances. In the middle of our century electron microscopy gave new insights into the ultrastructure by increasing the resolution one thousand times as compared to classical light microscopy. Immunofluorescence and histochemistry allowed assessment of functional and morphologic changes. Important new information was gained by the introduction of immunohistochemistry. The ability of antibodies to bind to epitopes even in formalin-fixed and paraffin-embedded tissues allows the precise diagnosis in many poorly differentiated tumors. The combination of different techniques (as for example immunohistochemistry and electron microscopy in the case of immuno-electronmicroscopy) lead to important new findings. The application of molecular biologic methods was a major step forward. They allow to precisely detect genomic sequences. Complementary strands are synthesized (so called probes), labelled and allowed to hybridize to the nucleic acid sequence looked for. Several examples are shown. The detection of viral nucleic acids (many of which can not reliably be identified on routine histological sections) can be achieved by in situ hybridization. The demonstration of bacteria which are slowly growing (as mycobacteria) or cannot be successfully cultivated can be easily achieved after amplification of specific nucleic acid sequences by the polymerase chain reaction. Molecular biological techniques are indispensable in cancer research (as shown here by the demonstration of IGF2 in nephroblastomas) but are also important in the diagnosis of tumors (as shown by the presence of T-cell-receptor-rearrangement in the case of suspected T-cell-lymphoma).(ABSTRACT TRUNCATED AT 250 WORDS)

Fluorescent Antibody Technique↗
PubMed1994

A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy.

A hydropic stillborn female fetus of 22 weeks gestation with shortlimbed skeletal dysplasia and brachyphalangy is described. The markedly shortened phalanges of both hands had a most unusual angel-like configuration radiologically. Histological examination and comparison with a normal hand of the same gestational age revealed this appearance to be due to disturbed enchondral ossification with premature calcification of epiphyseal cartilage and thickening and outfolding of diaphyseal bone as wing-shaped appositions. Magnetic resonance imaging of the fetus demonstrated marked hyperplasia of cartilage, most impressive in the pelvis. This new type of lethal bone dysplasia may be placed in the group of metatropic dysplasias and similar disorders.

Adult↗
PubMed1994

Lichen sclerosus et atrophicus causing phimosis in boys: a prospective study with 5-year followup after complete circumcision.

We prospectively investigated 100 pediatric patients suffering from phimosis and found a 10% incidence of lichen sclerosus et atrophicus. This condition usually can be diagnosed preoperatively because of its classic manifestation of severe phimosis due to a sclerotic, whitish ring at the tip of the prepuce, which in our cases was accompanied by sclerogenous glanular lesions. To our knowledge our study represents the first evidence that the development of secondary phimosis with no apparent reason in school-age boys is highly suggestive for lichen sclerosus et atrophicus. Complete circumcision is the therapy of choice because it completely removes all affected tissue and it allows spontaneous regression or resolution of glanular lesions. There has been no recurrence after 5 years of followup.

Adolescent↗
PubMed1994

Detection of Septata intestinalis in stool specimens and coprodiagnostic monitoring of successful treatment with albendazole.

We describe two patients with AIDS and chronic diarrhea in whom the microsporidian Septata intestinalis was detected with use of light and electron microscopic coprodiagnostic techniques. The ultrastructure of the microsporidian spores found in their stool specimens was distinctly different from that of Enterocytozoon bieneusi, another intestinal microsporidian found in patients infected with human immunodeficiency virus. Electron microscopic examination of duodenal biopsy specimens available from one of the patients enabled identification of S. intestinalis and confirmed the similarity of spores found in feces and in duodenal tissue. Both patients' diarrhea stopped when they were treated with albendazole. Coprodiagnostic monitoring indicated disappearance of the parasites and allowed the diagnosis of a relapse in one patient, who responded well to a second course of treatment.

AIDS-Related Opportunistic Infections↗
PubMed1994

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.

A male cat 12-14 weeks old had walking difficulties and an enlarged abdomen. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. Cultured fibroblasts incorporated 35SO4 into mucopolysaccharides more actively than did fibroblasts of a feline control, and degradation was far inferior. Activity of beta-glucuronidase was absent in leukocytes and markedly reduced in fibroblasts, thus establishing the diagnosis of mucopolysaccharidosis VII, a disorder previously described in humans, dogs, and mice. Light microscopic examination revealed foam cells in virtually all organs examined, and electron microscopic examination showed pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphingolipids in the form of zebra bodies were seen in ganglion cells of the central nervous system and in smooth muscle cells of blood vessels. This case represents another animal model of mucopolysaccharidosis VII with the full disease characteristics known in human patients.

Animals↗
PubMed1994

[Detection of human herpesvirus type 6, human herpesvirus type 7, cytomegalovirus and human papillomavirus in cutaneous AIDS-associated Kaposi's sarcoma].

In order to evaluate a possible role of viral infections in the pathogenesis of AIDS-associated Kaposi's sarcoma (KS), we investigated 26 cutaneous AIDS-associated KS by polymerase chain reaction (PCR), in situ hybridization, and immunohistochemistry. By PCR we detected human papilloma viruses (HPV), cytomegalovirus (CMV), human herpesvirus 6 (HHV-6), and for the first time human herpesvirus 7 (HHV-7) in the KS. The prevalence of HPV, HHV-6, and HHV-7 was similar to or lower in KS than in normal skin tissues of AIDS patients without KS, but higher than in normal skin of HIV-seronegative patients. All HHV-6 found in KS were identified as HHV-6 variant B. In addition to the known HPV types 16 and 18 described in KS, we also found HPV types 6 and 33 in KS specimen. By immunohistochemistry HHV-6 could be localized in macrophages in KS, in the adjacent stroma as well as in normal skin of control cases. In situ hybridization for CMV and HPV gave negative results in KS and controls.

Acquired Immunodeficiency Syndrome↗
PubMed1993

Squamous-cell carcinoma arising in a non-irradiated child with recurrent respiratory papillomatosis.

We describe a patient with recurrent respiratory papillomatosis (RRP) associated with human papilloma virus (HPV), who developed a fatal squamous cell carcinoma of the lung. At the age of 1 year he presented with hoarseness, dyspnoea and inspiratory stridor but the diagnosis of RRP was made only 1 year later. At the age of 4 years he was tracheostomized because of upper airway obstruction. In spite of multiple surgical excisions and topic treatment with 5-fluorouracil the papillomata extended to the lung parenchyma. At the age of 16 years he developed a squamous-cell carcinoma of the lung and died 4 months later. Transformation to pulmonary carcinoma is a rare complication in non-irradiated patients with lung papillomatosis. We found only 11 similar cases in the literature.

Adolescent↗
PubMed1993

Is neuronal intestinal dysplasia (NID) a primary disease or a secondary phenomenon?

In order to identify possible underlying ganglion-cell disorders, specimens have been taken in neonates and infants with intestinal obstruction treated between January 1988 and June 1992. NID was confirmed in 3 patients with intestinal malformation, 2 patients with neonatal intestinal obstruction, 3 patients with meconium peritonitis, 1 patient with persistent constipation after Duhamel's pull-through for Hirschsprung's disease and 1 patient with rectal stricture after conservative treatment for necrotising enterocolitis. Additionally, NID was found in 1 patient with recurrent prolapse of an ileostomy. Associated Hirschsprung's disease has been ruled out by additional rectal suction biopsies in patients where specimens have been collected at laparotomy first. Development of NID in previous normal bowel, the association of NID with intestinal malformations as well as the clinical heterogeneity of patients with NID of the present series suggest that NID is a reaction of the neural intestinal system caused by congenital obstructive factors or inflammatory diseases.

Humans↗
PubMed1992

Intestinal Enterocytozoon bieneusi microsporidiosis in an HIV-infected patient: diagnosis by ileo-colonoscopic biopsies and long-term follow up.

A 39-year-old patient with acquired immunodeficiency syndrome was diagnosed as having intestinal Enterocytozoon bieneusi microsporidiosis after persistent watery diarrhea for 30 months and a 16-kg weight loss. Microsporidian parasites were found by light and electron microscopy in tissue specimens of the duodenum, jejunum, and terminal ileum, and by light microscopic examination of stool specimens. When duodenal tissue sections obtained 16 months previously were reviewed retrospectively, E. bieneusi was also found. Until now, diagnosis of intestinal microsporidiosis has been based on examination of bioptic specimens of the upper small intestine because the sensitivity of new coprodiagnostic techniques has not been determined. Our findings of ileal microsporidiosis show that examination of the terminal ileum and ileal biopsy collection in tandem with colonoscopy is indicated for patients infected with human immunodeficiency virus and suffering from unexplained chronic diarrhea. The long-term course of our patient demonstrates that E. bieneusi, although not necessarily life threatening, can cause protracted debilitating diarrhea and wasting in severely immunodeficient patients.

AIDS-Related Opportunistic Infections↗
PubMed1992

Clinical relevance of Hirschsprung-associated neuronal intestinal dysplasia (HANID).

The rate of Hirschsprung-associated neuronal intestinal dysplasia (HANID) is reported to be as high as 20-75% but no report deals with its sequelae. The aim of our study was to evaluate the influence of the retained neuronal dysplastic segment in patients with Hirschsprung's disease (HD). We report on 47 patients with HD including 11 cases with HANID (23%). All 47 children had a Duhamel procedure subsequent to colostomy and in none of the 11 cases with HANID was the neuronal dysplastic segment resected. There was no significant difference of early and late complications in both groups and the results of the mean follow-up of 5 years after the Duhamel procedure show that the patients with HANID did as well as the patients with isolated HD. It is suggested therefore that HANID may be a distinct disease compared to isolated NID and that the NID attained segment may be retained without increased risks or morbidity.

Child, Preschool↗