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G Steinmetz

Publications and source records attributed to G Steinmetz.

At least 19 recordsLinked to original sources
PubMed2002

[Prion diseases].

Creutzfeldt-Jakob disease, kuru, Gerstmann Sträussler Scheinker syndrome and fatal familial insomnia in humans, as well as scrapie and bovine spongiform encephalopathy, in animals, are fatal disorders of the central nervous system that are part of the group of transmissible spongiform encephalopathies, (TSE) or prion diseases. Neuronal intracellular spongiosis and the accumulation of abnormal, protease resistant prion protein in the nervous central system characterize TSE. The conformational change of a host protein, prion protein, into a pathological isoform is the key pathogenetic event in TSE. Despite their relative rarity, prion diseases have a great impact on the scientific community and society in general. There are two major reasons: first, the heretical hypothesis of a disease transmitted by an "infectious protein" in the absence of nucleic acid, the basis of the conformational transmissibility concept; second, the panic originated from the appearance of new variant Creutzfeldt-Jakob disease and the evidence linking it to the exposure of humans to bovine spongiform encephalopathy via food contaminated by affected bovine tissue. Novel therapeutic approaches are examined.

Brain↗
PubMed1999

Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant.

Gerstmann-Sträussler-Scheinker disease is a rare familial form of prion disease. This autosomal dominant disorder is constantly associated with a point mutation on the PrP gene. Eight mutations affecting respectively codons 102, 105, 117, 145, 202, 212 and 218, have been so far described. Symptoms are variable and include ataxia and dementia. They generally appear between the fourth and sixth decade. Mean duration of the disease (5 years) is on the whole longer than that of other familial forms of prion diseases. Gerstmann-Sträussler-Scheinker disease is neuropathologically characterized by the presence of numerous multicentric or unicentric PrP amyloid deposits widespread throughout the encephalon. Spongiform change is inconstant. Neurofibrillary tangles have been described in some families. Clinicopathological features show considerable variability. Pathogenesis of amyloidosis and associated lesions as well as factors underlying the phenotypic polymorphism of the disease remain only partially known.

Adult↗
PubMed1993

Decreased platelet aggregation during pregnancy correlates with gestational age.

In vivo platelet aggregation was determined in pregnant women at different gestational ages and nonpregnant women by a modification of a method. A higher platelet count ratio (PCR) was found in pregnant women after a gestational age of 13 weeks. At 16-30 and 31-41 weeks of gestation, in vivo platelet aggregation was significantly decreased. The PCR, meaning the ratio of non-aggregated platelets to all circulating platelets, correlated significantly with gestational age. It is suggested that the decrease in in vivo aggregation measured during pregnancy reflects a summarized effect of different factors during pregnancy connected to placenta and uteroplacental vessels.

Adolescent↗
PubMed1992

[Prion encephalopathies].

Spongiform encephalopathies, also called prion encephalopathies, are characterized, in human as well as in animals, by (1) their clinical picture which indicates strict localisation in central nervous system, (2) their histological aspect: spongiform degeneration and neuronal loss, and (3) their transmissibility in the same animal species but also from man to animal. The nature of the pathogenic agent is still debated. This agent could be one isoform of the prion protein which, probably because of a modification of its tertiary structure, is partially resistant to proteolytic enzymes. Recent description of a bovine spongiform encephalopathy caused by meat flour absorption has raised again the question of the transmissibility of these animal diseases to human.

Animals↗
PubMed1992

Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies.

The clinical progression of Gerstmann-Sträussler-Scheinker disease in a family of Alsatian origin is reported. The age of onset and the duration of evolution were variable. The clinical picture became more complex over the generations: in the first generations, isolated dementia and in later generations a triad of pyramidal, pseudobulbar syndromes and dementia associated with spinal cord and cerebellar features. Prion gene analysis showed that four surviving patients carry double missense changes at codons 117 and 129, identical to those found in one case at necropsy and 10 other healthy members of the family. The missense changes were not found in 100 controls. No member of the family had modification of condons 102, 178, or 200. The lod score suggests linkage between the missense change at codon 117 and Gerstmann-Sträussler-Scheinker disease in this family.

Adult↗
PubMed1991

[Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease].

We report the clinical progression of the Gerstmann-Sträussler-Scheinker disease (GSS) in a family of Alsatian origin. The age of onset and duration of evolution were variable. The clinical picture became more complex over the generations: isolated dementia in the first generations, then, more recently, a triad of pyramidal, pseudobulbar syndrome and dementia associated with symptoms indicating spread of damage to the spinal cord and cerebellum. Study of the prion gene showed that in all patients analyzed and in 10 healthy family members, there is a double mutation of codon 117 leading to loss of the restriction site PvuII and to the replacement of an alanine by a valine. We did not find the mutation of codon 102 reported in 5 GSS families. The role of these mutations in the pathogenesis of the disease is unclear: marker for a particular susceptibility to the encephalopathies due to the prion, or direct role in the disease? Further study of the family, particularly the healthy carriers, could suggest the answer. GSS seems to be an especially useful model for the study of the role of a foreign abnormal protein in the synthesis and regulation of host proteins.

Chromosome Mapping↗
PubMed1990

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome.

Using immunostaining with anti-prion protein (PrP) antiserum, we detected numerous kuru plaques in the brain of a 24-year-old man with Gerstmann-Sträussler-Scheinker syndrome. Immunoreactivity on Western blotting of the protease-resistant PrP fraction from the frozen brain was weak. PrP gene analysis showed substitution of alanine to valine in codon 117 but no substitution in codon 102. As the experimental transmission of the disease to mice was negative, a pathogen of a relatively low infectivity may cause the disease in predisposed family members.

Adult↗
PubMed1988

Diagnosis of Chlamydia trachomatis infection--culture versus serology.

The diagnostic value of different laboratory methods in detecting Chlamydia trachomatis infections in high risk groups was analysed. The efficiency of a direct specimen test was compared with serology (IgG and IgM ELISA) and culture in L929 cells, stained either with fluorescein conjugated monoclonal antibodies or with iodine. Patients (no. = 1041) with localized genital infections attending a STD clinic, sexual contacts and patients with ascending infections from urological and gynecological clinics were examined. Chlamydia trachomatis was detected in 225 patients: 210 (93.3%) were reactive in the direct test (smears stained with monoclonal antibodies), whereas culture missed only 5 (sensitivity 97.8%) when stained by the same method. Cultures stained with iodine produced the lowest recovery rate (73.8%), but this rate increased to 80.9% when a second passage was performed. In addition the prevalence of Neisseria gonorrhoeae, Mycoplasma hominis, Ureaplasma urealyticum, Candida albicans and Trichomonas vaginalis was investigated. In patients with non-gonococcal urethritis (no. = 331) and cervicitis (no. = 353), Chlamydia trachomatis was isolated in 32.3% and 12.8% respectively. However, this pathogen could be isolated in only 3 (15.8%) out of 19 patients with epididymitis and 15 (14%) out of 107 patients with adnexitis, although 66.7% and 93.3% respectively had specific IgG antibodies. Specific IgM could by detected with a sandwich ELISA in patients with adnexitis (46.7%), epididymitis (33.3%), cervicitis (22.2%), non-gonococcal urethritis (14%) and in the sexual partners of patients with genital infections (35.7%). The direct specimen test with monoclonal antibodies is the method of choice for the diagnosis of a C. trachomatis infection in patients with urethritis and cervicitis.(ABSTRACT TRUNCATED AT 250 WORDS)

Antibodies, Monoclonal↗
PubMed1987

[Meningoradiculitis after a tick bite. Study of 31 cases].

A retrospective study covering a period of 20 years identified reports on 31 cases of meningoradiculitis of the Garin-Bujadoux-Bannwarth type (MRGBB). Clinical, biological, electromyographic characteristics and course of the disease were studied. The most recent cases (n = 8) in 1984 and 1985 had serological tests for Borrelia Burgdorferi and half of the cases had negative results. Conversely, in some patients with meningoradiculitis, even in the absence of a tick bite or of migrating chronic erythema, serology was positive for Borrelia Burgdorferi antigen. The efficacy of antibiotic therapy against pain and on the quality and time of functional recovery justifies the use of this therapy under these two circumstances.

Bites and Stings↗
PubMed1985

[Emboligenic abscess of the aortic ring disclosing gonococcal endocarditis. Value of echocardiography].

Echocardiography has become a valuable diagnostic modality in bacterial endocarditis and of even more importance in following the subsequent course of the infection while on medical therapy. It can play an extremely important role in certain clinical circumstances, even before blood culture results are available or hemodynamic or auscultatory abnormalities appear. Nevertheless, in spite of this usefulness, the limitations of echocardiography should be recognized. The examination lacks absolute specificity and sensitivity which could result in inaccurate or delayed information in diagnosing a lesion or in recognizing local or regional complications. These advantages and limitations are well illustrated in an unusual case due to Neisseria gonorrhoeae, a causative agent whose incidence may increase over the years to come.

Abscess↗
PubMed1982

[Familial presenile dementia: Gerstmann-Sträussler-Scheinker's syndrome (author's transl)].

A similar affection has developed in eight members from four generations of a family living in the Alsace. The disease is characterized by the onset of a pyramidal, pseudobulbar syndrome and dementia during the third or fourth decade of life. The outcome is fatal after a mean period of three years. Cerebral biopsies in three cases have demonstrated multicentric amyloid plaques differing from senile plaques. Clinical and pathological findings are similar to those currently reported in the literature as being typical of Gerstmann-Sträussler-Scheinker's syndrome. The affection appears as a separate entity: the multicentric plaques, clinical symptomatology, pyramidal or pseudobulbar, cerebellar syndromes, usually preceding dementia, age of onset, course, and familial character or the disorder distinguish it among presenile dementias. Its clinical profile and course are very similar to that of familial cases of Alzheimer's disease, some of which are probably cases of Gerstmann-Strässler-Scheinker's syndrome. Transmission to animals, though inconstant, places it within the group of transmissible dementias among kuru, Creutzfeldt-Jakob's, and familial forms of Alzheimer's disease. The familial nature of the affection and the variability of clinical and pathological features in the same family illustrate the complex relationships between hosts and pathogenic agents in the clinicopathological expression of a disease.

Adult↗