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Biomedical subjects

J Briner

Publications and source records attributed to J Briner.

At least 19 recordsLinked to original sources
PubMed1997

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.

UNLABELLED: The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia. Genetic linkage between SJS and chromosomal region 1q36-34 has been observed in several families, but the gene has not yet been identified. We studied the clinical and radiological features in 81 patients from the literature and 5 own patients trying to identify distinct subgroups. In addition, we tested genetic linkage to the SJS locus on chromosome 1 in one family with two affected sibs. We found that a group of patients have mild skeletal changes which may be secondary consequences of myotonia, while another group of patients appear to have primary bone dysplasia with myotonia. Within this latter group, there are differences in age of manifestation, clinical course and pattern of bone changes. We tentatively isolate three different types of SJS: type 1A, usually recognized in childhood, with moderate bone dysplasia, corresponding to the original descriptions of Schwartz, Jampel and Aberfeld; type 1B, similar to type 1A but recognizable at birth, with more pronounced bone dysplasia resembling Kniest dysplasia; and type 2, manifest at birth, with increased mortality and bone dysplasia resembling Pyle disease. Genetic analysis of the family with two sibs affected by SJS type 2 showed evidence against linkage to chromosome 1p36-34. CONCLUSIONS: SJS is clinically and radiologically heterogeneous. The causes of heterogeneity are not known yet but are likely to include both different mutations at the SJS locus on chromosome 1 and the presence of a second SJS locus. A tentative clinico-radiological classification can be useful for the characterization of patients and the development of genotype-phenotype correlations.

Adolescent↗
PubMed1996

Detection and typing of human papillomavirus in biopsy and cytological specimens by polymerase chain reaction and restriction enzyme analysis: a method suitable for semiautomation.

Screening for high-risk human papillomavirus (HPV) types allows the detection of women at a high risk of cervical squamous carcinomas, thereby defining a subset of patients targeted for more intensive screening and follow-up. Thirty-four cervical biopsy specimens and isolated cells from cervical smears of normal women or women diagnosed with high-grade intraepithelial lesion (HGSIL) were screened for the presence of HPV by in situ hybridization (ISH) and/or by polymerase chain reaction (PCR). The exact HPV type was determined using a novel restriction typing method. The detection of HPV was facilitated greatly by the use of a PCR-enzyme-linked immunosorbent assay (ELISA)-based method. HPV was detected by PCR in 32% of the biopsy specimens, whereas only 23% had a positive staining by ISH. In one case, a double infection was detected by ISH as well as by PCR. In two cases, the presence of HPV was detected by both methods but the exact type was different. Analyzing cells isolated from cervical smears by the PCR-ELISA technique or by PCR followed by agarose gel electrophoresis, HPV was detected only in patients with HGSIL and not in the control group. The PCR system is more sensitive than conventional ISH, and the PCR-ELISA system presented in this study is efficient in screening large series of cytological samples. Furthermore, this system allows exact HPV typing on the microtiter plate. These innovations may allow the application of HPV detection and typing as a routine screening method to identify patients with a high risk of developing cervical neoplasia.

Automation↗
PubMed1996

Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.

UNLABELLED: We report two brothers with renal dysplasia and congenital hepatic fibrosis. One patient died shortly after birth of lung hypoplasia. The second developed end-stage renal failure at 14 months. The hepatic fibrosis progressed to cirrhosis and hepatic failure. Pancreatic function was normal, but increased echogenicity was seen on ultrasound. At age 3 years and 9 months a successful combined liver-kidney transplantation was performed. The features of our patients are compatible with the "renal-hepatic-pancreatic dysplasia" syndrome. CONCLUSION: Renal-hepatic-pancreatic dysplasia is an autosomal recessive disorder with variable expression. Combined liver-kidney transplantation offers a new therapeutic option.

Abnormalities, Multiple↗
PubMed1996

Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus.

Ultrasonographic and pathoanatomical features of a fetus displaying bilateral brachial amelia, complex facial clefting, encephalocele and omphalocele are described. The findings are compared with the few previously published cases. Bilateral brachial amelia with complex other organ malformations in previable fetuses may be more frequently diagnosed with improving prenatal ultrasonography.

Abnormalities, Multiple↗
PubMed1996

Detection of t(11;22)(q24;q12) translocation breakpoint in paraffin-embedded tissue of the Ewing's sarcoma family by nested reverse transcription-polymerase chain reaction.

Tumors of the Ewing's sarcoma family often present a major diagnostic challenge for the pathologist. In recent years, significant progress has been made in identifying characteristic chromosomal rearrangements associated with certain solid tumors. More than 85% of Ewing's sarcoma and related tumors present a specific t(11;22) (q24;q12) balanced translocation, which generates a fusion transcript of the EWS gene and the FLI-1 gene. The cloning of the t(11;22)(q24;q12) breakpoint has raised the possibility of using a reverse transcription-polymerase chain reaction (RT-PCR) based assay as a diagnostic tool. We report an improvement of the established method, which currently depends on fresh or snap-frozen tissue, so that it is possible to use formalin-fixed, paraffin-embedded tissue as a source of RNA. The described nested RT-PCR assay enables the pathologist to investigate retrospectively archival tumor samples or to confirm the diagnosis in cases where no fresh or frozen material is available.

Adult↗
PubMed1996

Mucolipidosis type II in a domestic shorthair cat.

A seven-month-old, female domestic shorthair cat was presented to the Veterinary Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth and progressive hindlimb paresis. On physical examination the cat had a flat, broad face with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids. The corneas of both eyes were clear and the pupils were dilated. The skin was generally thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The toluidine blue spot test on a urine sample, however, was negative for glycosaminoglycans. Further biochemical investigations revealed a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron microscopy of different tissues are briefly summarised. The findings of this cat, the first reported case of mucolipidosis type II are compared with other similar storage diseases described in the cat.

Animals↗
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↗