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G Rauh

Publications and source records attributed to G Rauh.

At least 19 recordsLinked to original sources
PubMed1995

Bone marrow pathology in relapsing polychondritis: high frequency of myelodysplastic syndromes.

Haemopathologic changes were studied in 19 patients (13 male, six female, age 33-85 years, mean 56 years) with relapsing polychondritis (RP). Anaemia was found in eight, thrombocytopenia in two and splenomegaly in three patients. A total of 17 bone marrow biopsies were obtained from seven individuals. Bone marrow evaluation revealed myelodysplastic syndromes (MDS) with marked trilineage hyperplasia and dysplasia in three cases. Since an excess of myeloblasts or an increase of CD34 positive progenitor cells was not seen, the disorders were designated as 'refractory anaemia' or with regard to the dysplastic megakaryopoiesis 'MDS, unclassifiable'. Two of the three patients died after 10 and 55 months of follow-up due to infectious complications. In a further patient, bone marrow analysis repeatedly showed an unexplained granulopoietic hyperplasia, which, however, was not dysplastic enough to allow a diagnosis of MDS. The remaining patients had clearly reactive changes. Our findings support the notion that RP is a heterogenous disorder and suggest that RP may at times represent a paraneoplastic phenomenon of an underlying MDS. Since HLA typing revealed a significantly increased frequency of the antigen DR4 (10/17 patients positive = 59%), we hypothesize that immunological imbalances due to the MDS in conjunction with a specific immunogenetic background may play key roles in the pathogenesis of RP in these patients.

Adult↗
PubMed1993

[Acute kidney failure caused by sulfadiazine stones. A complication of the therapy of toxoplasmosis in AIDS].

A 45-year-old man with AIDS was treated for a recurrence of cerebral toxoplasmosis with sulphadiazine, 4 g, and pyrimethamine, 75 mg, daily. Owing to a lack of appetite and dysphagia he drank rather little water during the first week of treatment. On the 13th day after starting the drugs he had bilateral renal colics and renal failure was diagnosed (serum creatinine 3.8 mg/dl). Ultrasound examination demonstrated multiple stones with bilateral urinary retention. After parenteral fluid replacement, alkalization of the urine with sodium-potassium-hydrogen citrate and N-butylcopolamine a stone, consisting of sulphadiazine and acetylsulphadiazine, was passed after two days. Three days later the creatinine concentration was within normal limits, and in further two days the ultrasound picture was normal. It is pointed out that diarrhoea, fever or dysphagia often prevent sufficient fluid intake in AIDS patients. Satisfactory oral fluid intake and alkalization of urine is thus of great importance for avoiding complications during sulphadiazine treatment.

AIDS-Related Opportunistic Infections↗
PubMed1993

Relapsing polychondritis presenting as cutaneous polyarteritis nodosa.

Relapsing polychondritis is an infrequently diagnosed, though not necessarily uncommon, systemic disorder characterized by recurrent and potentially destructive inflammation of cartilaginous structures, the eye, and the audiovestibular and cardiovascular systems. Although dermal involvement occurs in approximately 25% of patients with relapsing polychondritis, in only few cases has a skin biopsy been obtained revealing lesions such as leukocytoclastic vasculitis, livedo reticularis, erythema nodosum or keratodermia blenorrhagicum. We describe a patient with relapsing polychondritis in whom a cutaneous polyarteritis nodosa preceded cartilage inflammation by 6 months. Cutaneous polyarteritis nodosa is a rare form of vasculitis that appears to be limited primarily to the skin, muscles, and joints. In contrast to the systemic form of the disease it is characterized by the absence of visceral lesions and a relapsing but benign course. The present case and the fact that vasculitis is a concomitant feature in approximately 30% of patients with relapsing polychondritis [21] demonstrates that this condition may not represent a distinct clinical entity.

Aged↗
PubMed1992

Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.

Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder characterized by a decreased binding of low density lipoprotein (LDL) to the LDL receptor due to defective apo B-100. FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. The arginine (3500)----glutamine mutation has been observed in several populations in North America and Europe with a similar frequency of approximately 1/500 to 1/700. Haplotype analysis has demonstrated that the arginine(3500)----glutamine mutation occurs on the same chromosomal background. The fact that all individuals with FDB are of Caucasian extraction implies that the mutation has its origin in this population. The arginine(3500)----glutamine mutation has a profound impact of varying strength on the plasma LDL cholesterol level, leading to heterogeneous clinical expression comparable to "classic" familial hypercholesterolemia (FH) caused by a defective LDL receptor: tendon xanthoma, premature atherosclerosis and arcus lipoides. The present data suggest that the combination of these clinical features is no longer appropriate for the diagnosis of LDL-receptor-defective FH, but may be a common feature of a defective LDL receptor pathway originating either from defective LDL receptors or from malfunctioning ligand apo B-100.

Apolipoprotein B-100↗
PubMed1992

Allele-specific and asymmetric polymerase chain reaction amplification in combination: a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100.

We have combined the asymmetric polymerase chain reaction (PCR) with allele-specific PCR to detect a single point mutation. A set of two priming oligonucleotides and a third allele-specific primer were used to identify heterozygotes for a G to A mutation at nucleotide 10,708 in the apolipoprotein B (apo B) gene. The system requires neither restriction enzyme digestion nor allele-specific oligonucleotides as conventionally applied for allele-specific hybridization of slot blots. This method clearly allows for the detection of the mutant allele by inspection, after agarose gel electrophoresis of a single PCR reaction. DNA from 40 patients with familial defective apo B-100 due to the G to A mutation at nucleotide 10,708 in the apo B gene and their normal relatives was analyzed. Complete agreement with allele-specific hybridization of slot blots confirms supposition that the system is effective to screen a larger population.

Alleles↗
PubMed1992

Familial defective apolipoprotein B100: clinical characteristics of 54 cases.

Familial defective apolipoprotein B100 (FDB) is a recently identified dominantly inherited genetic disorder, which is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor. FDB is caused by a G to A mutation at nucleotide 10 708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. To determine the consequences of the arginine(3500)----glutamine mutation on plasma lipid levels and other clinical features, we have investigated 54 FDB heterozygotes from Germany (24 men, 30 women, mean age 37.2 (4-73) years). The average total cholesterol level in plasma was 308 mg/dl (average LDL-cholesterol 242 mg/dl), which was 116 mg/dl (120 mg/dl) above the 50th percentile of the age and sex-matched controls reported in the LRC population studies (Lipid Research Clinics' Program 1980). Tendon xanthoma and arcus lipoides were present in 25.9% and 22.2% of the patients, respectively. Plaques in the carotid arteries, determined by duplex scanning, were present in 38.9%, and coronary artery disease was present in 22.2%. This study shows that the combination of tendon xanthoma, arcus lipoides and premature atherosclerosis is no longer totally appropriate for the diagnosis of familial hypercholesterolemia (FH). It rather seems that these features are characteristic of a defective LDL receptor pathway, which could be caused by a defective LDL receptor or a defective ligand apo B100. The distinction between FH and FDB may have therapeutic implications, because certain lipid lowering drugs act by stimulation of the LDL receptor, which has a normal function in FDB.

Adolescent↗
PubMed1992

Basic biochemical data on blood from antarctic Weddell seals (Leptonychotes weddelli): ions, lipids, enzymes, serum proteins and thyroid hormones.

1. Standard laboratory values of blood samples taken from Weddell seals in Antarctica were determined. 2. Numerous blood parameters are similar to those observed in man. 3. Comparatively high cholesterol levels but normal triglyceride levels were observed when compared with humans. 4. In comparison to laboratory findings in humans, T4 levels were decreased although T3 levels were normal. 5. The levels of alkaline phosphatase are considerably higher than those in humans. 6. The data obtained indicate different lipid and thyroid hormone metabolism in Weddell seals when compared with humans.

Animals↗
PubMed1991

Similar frequency of autoantibodies against pneumocytes type II and Clara cells in patients with interstitial lung diseases and healthy persons.

Several experimental findings suggest an association between interstitial lung diseases and autoantibodies. Antibodies against lung tissue including pneumocytes type II in patients suffering from idiopathic pulmonary fibrosis (IPF) were reported in recent years. In this investigation the serum of 103 persons (10 with IPF, 23 with M. Boeck, 18 with rheumatoid arthritis (RA) and 52 healthy controls) was examined for autoantibodies against pneumocytes type II and Clara cells by indirect immunofluorescence on human lung tissue. These antibodies against both cell types are an additional proof for common antigens in pneumocytes type II and Clara cells. The autoantibodies were present in similar frequency in the 4 groups (IPF: 20%, M. Boeck: 26.1%, RA: 22.2% and 23.1% of the healthy controls). So no significant association was found between the antibodies and the interstitial lung diseases. A role of the antibodies in the pathogenesis of the diseases, however, can not be excluded by this study. A possible role as parameter of development of interstitial lung diseases should be subject to further investigations in form of a prospective follow up study.

Adult↗
PubMed1991

Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100.

Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder, which leads to increased serum levels of low density lipoprotein (LDL) cholesterol with reduced affinity for the LDL receptor. This genetic disorder is characterized by defective binding of the apolipoprotein B-100 (apo B-100), which is virtually the sole protein constituent of LDL, to the LDL receptor. The defective binding results from a G to A mutation at amino acid 10,708 in exon 26 of the apolipoprotein B (apo B) gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. It is postulated that FDB can exhibit the same clinical features as familial hypercholesterolemia (FH) caused by a defective LDL receptor. The purpose of this paper is to report on an individual with a defective LDL and a defective LDL receptor. The clinical features of this individual were the same as in the family members with either defective LDL or a defective LDL receptor: premature arcus lipoides, tendon xanthomata, and premature atherosclerosis. Although the clinical features were present to the same degree as in individuals with either defect the prognosis and treatment of such an individual could be different.

Adolescent↗
PubMed1991

Familial defective apolipoprotein B-100: haplotype analysis of the arginine(3500)----glutamine mutation.

Familial defective apolipoprotein B-100 (FDB) is a recently identified, dominantly inherited genetic disorder, which leads to an increased serum level of low density lipoprotein (LDL) cholesterol with reduced affinity for the LDL receptor. It is postulated that this disorder results from a G to A mutation at nucleotide 10,708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. To investigate whether recurrent mutation has contributed to the high frequency of FDB, we have conducted a haplotype analysis in previously reported and newly detected FDB heterozygotes in Germany. 5 FDB families and 6 unrelated FDB heterozygotes were genotypes at 4 polymorphic sites in the 3' end of the apo B gene. These sites consisted of the diallelic markers XbaI, MspI, EcoRI and the hypervariable region (3'HVR). In 5 FDB families and 1 unrelated FDB heterozygote the arginine(3500)----glutamine mutation could be unambiguously assigned to the haplotype XbaI-/MspI+/EcoRI-/3'HVR48, in the other 5 FDB unrelated heterozygotes this finding was consistent with the combination of the genotype. The existence of the arginine(3500)----glutamine mutation on the same and supposedly rare allele suggests that the mutant alleles are identical by descent in our population. The fact that the same mutant allele was identified in North America and Austria suggests a common European origin of the arginine(3500)----glutamine mutation.

Adult↗
PubMed1991

Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.

In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective apolipoprotein B-100 (FDB). To date none of the LDLR mutations causing FH in German patients has been identified and it is therefore not yet possible to use DNA technology for direct diagnosis. However, indirect molecular diagnosis based on genetic linkage of common restriction fragment length polymorphisms (RFLPs) of the LDLR gene can be used for diagnosis in family studies. Patients with FDB were excluded from this study. Genotypes and haplotypes of four RFLPs (StuI, ApalI 5', PvuII, and NcoI) were determined in a total of 164 independent alleles from 31 pedigrees that included 222 subjects. Allele frequencies and four RFLP haplotype distribution did not differ significantly from those reported in other populations. The applicability of DNA diagnosis in our lipid clinic is comparable with the estimation from calculations on frequencies and heterozygosities of RFLPs, as predicted using these four RFLPs before. On the basis of cosegregation of haplotypes and normo- or hypercholesterolaemia in one or more sibs or offspring, defective and normal LDLR gene alleles could be distinguished in 42 of 58 heterozygous FH patients who were heterozygous for at least one RFLP. In 97 of 134 (72%) children of these 42 subjects, diagnosis of FH could be carried out unambiguously.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1990

[Bone pain in adults as the first symptom of late congenital syphilis].

A 20-year-old woman developed multifocal bone pain. Diagnostic radiology revealed thickened periosteum, and syphilis serology was positive (T. pallidum haemagglutination test 1:5120). She also had discrete signs of congenital syphilis, with retinitis pigmentosa and Hutchinson's incisors. Skeletal scintigraphy demonstrated increased uptake even in radiologically unremarkable bones. The bone pain decreased after four-week administration of 1 M units of penicillin G daily. Scintigraphy one year later showed regression of the increased uptake, skeletal radiology did not reveal significant changes. This case shows that late manifestations of congenital syphilis still occur today. The stigmata of such an infection can be minute and easily missed. Skeletal scintigraphy is better for demonstrating active bone involvement than conventional radiology.

Adult↗
PubMed1990

Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia.

Familial combined hyperlipidemia (FCHL) is the most common genetic form of hyperlipidemia in which affected individuals manifest multiple lipoprotein phenotypes. Although the molecular defect is still unknown, several kinetic studies have demonstrated increased turnover rates of apolipoprotein B (apo B) in patients with FCHL, irrespective of their lipoprotein phenotype. Using 3 restriction fragment length polymorphisms (RFLPs) of the apo B gene (XbaI, MspI and EcoRI) we have investigated 33 families which fulfill the diagnostic criteria of FCHL. No significant difference in allele frequency was found between 33 unrelated individuals with FCHL and 107 normolipidemic controls. 3-RFLP haplotypes were constructed in each pedigree. A co-segregation analysis was performed in 7 informative families. In no family was co-segregation observed between the haplotype of the apo B gene and the phenotype of FCHL. These data are not compatible with the hypothesis that FCHL is caused by mutations of the apo B gene acting as a simple mendelian trait.

Adult↗
PubMed1990

Association of DNA-haplotypes in the human LDL-receptor gene with normal serum cholesterol levels.

For the low density lipoprotein receptor (LDLR), many mutations have been characterized which identify this gene as one with an important role in lipid metabolism in patients with familial hypercholesterolemia (FH). Genetic heterogeneity at this locus raises the possibility that the LDLR may also contribute to variation in cholesterol levels in the normocholesterolemic population. We have determined genotypes at the LDLR locus using restriction fragment length polymorphisms (RFLPs) detected with the enzymes StuI, ApalI, PvuII and NcoI in 324 normocholesterolemic individuals from Germany. A significant association (p less than 0.01) was detected between the cutting site for the PvuII RFLP and lower cholesterol levels, and variation associated with this polymorphism explains 3% of the sample variance in cholesterol levels. In family studies we have determined four-RFLP haplotypes of 148 independent LDLR genes and have observed 9 haplotypes in the population. Three of these haplotypes containing the cutting site for PvuII are associated with a reduction in plasma LDL-cholesterol levels. Phylogenetic analysis indicates that these three haplotypes are related by evolutionary history, and this suggests that a single functionally important sequence change in the LDLR explains our observations. Our data confirm other reports and strongly suggest that the LDLR locus may be one of those genes involved in determining serum cholesterol levels in the normal population.

Adult↗
PubMed1989

Relapsing poly(peri)chondritis associated with fibrosing alveolar disease and antibodies to pneumocytes type II and Clara cells.

A 62-year-old man with histological confirmed relapsing polychondritis showed chondritis of ears and nose, arthritis, keratitis and a hemolytic anemia. The bronchoalveolar lavage, computed tomography of the thorax and pulmonary function tests disclosed findings compatible with fibrosing alveolar disease. IgG antibodies to alveolar pneumocytes type II and bronchiolar Clara cells were detected by indirect immunofluorescence of human lung tissue. To our knowledge this is the first report of fibrosing alveolar disease in relapsing polychondritis and detection of antibodies to human pneumocytes type II and Clara cells.

Autoantibodies↗
PubMed1989

[Sweet syndrome in chronic myeloid leukemia].

A 31-year-old woman with chronic myeloid leukemia developed bullous skin changes not responding to antibiotic therapy. A biopsy showed a sterile predominantly neutrophilic infiltrate consistent with Sweet's syndrome. These skin changes responded well to methylprednisolon. Seven months later the patient died in a blast crisis.

Adult↗