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J Goetz

Publications and source records attributed to J Goetz.

At least 19 recordsLinked to original sources
PubMed2006

Which complement assays and typings are necessary for the diagnosis of complement deficiency in patients with lupus erythematosus? A study of 25 patients.

INTRODUCTION: Deficiencies in components of the classical pathway of complement activation are strong risk factors for lupus erythematosus (LE).Yet, it has not been addressed whether the conventional measurements of the serum hemolytic CH50 activity and antigenic concentrations of C3 and C4 are sufficient to asses a deficiency in C4A, C4B or C2 components, the most common deficiencies associated with LE. PATIENTS AND METHODS: In a retrospective series, we performed complement analyses in 35 patients with LE who were systematically screened for a complement deficiency. The majority of patients had cutaneous LE with mild systemic involvement and no complement consumption. Of 25 patients (72%) with complement deficiency we found 13 with a partial C4A deficiency, 2 with a complete C4A deficiency, 6 with a partial C4B deficiency, 2 with a complete C4B deficiency and 2 with a combined partial C2 and C4A deficiency. RESULTS: The total complement activity (CH50) was decreased in only one out of two patients with complete C4B deficiency. CH50 level was found to be low-normal (35-38 U/ml(-1)) in one patient with partial C4B deficiency, one patient with complete C4B deficiency and both patients with combined partial C4A and C2 deficiency. Total C4 levels were normal in 9 out of 13 the patients with a partial C4A deficiency and in 2 out of 6 patients with a complete C4B deficiency. The antigenic concentration of C3 was low in only 1 patients with a complete C4B deficiency and within the normal range in all the others patients. Overall, 50% of the patients had normal or elevated C3, C4, and CH50 levels. DISCUSSION: This study emphasizes that the usual measurements of CH50, C3 and C4 levels are not adequate to detect a C4 and/or C2 deficiency in patients with LE. In epidemiologic or investigative studies addressing the prevalence of complement deficiency, more elaborated diagnostic tests, such as C4 protein allotyping, C2 level measurement and genetic screening for type I C2 deficiency should also be performed.

Adult↗
PubMed2006

Measurement of the N-->Delta(+)(1232) transition at high-momentum transfer by pi(0) electroproduction.

We report a new measurement of the exclusive electroproduction reaction gamma(*)p-->pi(0)p to explore the evolution from soft nonperturbative physics to hard processes via the Q(2) dependence of the magnetic (M(1+)), electric (E(1+)), and scalar (S(1+)) multipoles in the N-->Delta transition. 9000 differential cross section data points cover W from threshold to 1.4 GeV/c(2), 4pi center-of-mass solid angle, and Q(2) from 3 to 6 GeV(2)/c(2), the highest yet achieved. It is found that the magnetic form factor G(M)(*) decreases with Q(2) more steeply than the proton magnetic form factor, the ratio E(1+)/M(1+) is small and negative, indicating strong helicity nonconservation, and the ratio S(1+)/M(1+) is negative, while its magnitude increases with Q(2).

Journal Article↗
PubMed2006

Precision of computer-assisted core decompression drilling of the knee.

INTRODUCTION: Core decompression by exact drilling into the ischemic areas is the treatment of choice in early stages of osteonecrosis of the femoral condyle. Computer-aided surgery might enhance the precision of the drilling and lower the radiation exposure time of both staff and patients. The aim of this study was to evaluate the precision of the fluoroscopically based VectorVision-navigation system in an in vitro model. MATERIALS AND METHODS: Thirty sawbones were prepared with a defect filled up with a radiopaque gypsum sphere mimicking the osteonecrosis. 20 sawbones were drilled by guidance of an intraoperative navigation system VectorVision (BrainLAB, Munich, Germany). Ten sawbones were drilled by fluoroscopic control only. RESULTS: A statistically significant difference with a mean distance of 0.58 mm in the navigated group and 0.98 mm in the control group regarding the distance to the desired mid-point of the lesion could be stated. Significant difference was further found in the number of drilling corrections as well as radiation time needed. CONCLUSION: The fluoroscopic-based VectorVision-navigation system shows a high feasibility and precision of computer-guided drilling with simultaneously reduction of radiation time and therefore could be integrated into clinical routine.

Decompression, Surgical↗
PubMed2006

Serum immunoglobulin free light chain assessment in rheumatoid arthritis and primary Sjogren's syndrome.

BACKGROUND: B cell activation may result in an increased secretion of immunoglobulin free light chains (FLCs) in autoimmune diseases. OBJECTIVE: To analyse serum FLC levels in patients with rheumatoid arthritis and in those with primary Sjögren's syndrome (pSS). PATIENTS AND METHODS: Blood samples were collected from 80 healthy blood donors, 50 patients with rheumatoid arthritis and 139 patients with pSS. Serum FLC level was measured using a new quantitative immunoassay. RESULTS: Mean (standard error (SE)) serum kappa and lambda FLC levels were significantly higher in patients with rheumatoid arthritis and in those with pSS than in controls (kappa : 18.9 (1.1) and 16.3 (1.4) v 10.5 (0.4) mg/l, p<0.001 and p = 0.001, respectively; lambda: 16.7 (1.2) and 19.3 (1.5) v 11.6 (0.6) mg/l, p<0.001 for both). 18 (36%) patients with rheumatoid arthritis and 31 (22.3%) patients with pSS had abnormal serum FLC levels (increased kappa or lambda levels and abnormal ratio of kappa:lambda). Serum kappa and lambda levels were correlated with other B cell activation markers in both diseases. FLC levels increased with disease activity, because, unlike total gammaglobulin and immunoglobulin G levels, they were significantly correlated with Disease Activity Score 28 in patients with rheumatoid arthritis (p = 0.004 for kappa, p = 0.05 for lambda) and with extraglandular involvement in pSS (p = 0.01 for kappa, p = 0.04 for lambda). CONCLUSION: FLC levels are increased and correlate with disease activity in patients with rheumatoid arthritis and in those with pSS, two diseases in which increased risk of lymphoma could result from persistent B cell activation and disease activity. Further studies are required to determine whether FLC assessment could represent a relevant biomarker for response to treatment (especially B cell depletion) and for the risk of lymphoma in autoimmune diseases.

Adult↗
PubMed2006

Precision of computer-assisted core decompression drilling of the femoral head.

INTRODUCTION: Osteonecrosis of the femoral head is a local destructive disease with progression into devastating stages. Left untreated it mostly leads to severe secondary osteoarthrosis and early endoprosthetic joint replacement. Core decompression by exact drilling into the ischemic areas can be performed in early stages according to Ficat or ARCO. Computer-aided surgery might enhance the precision of the drilling and lower the radiation exposure time of both staff and patients. The aim of this study was to evaluate the precision of the fluoroscopically based VectorVision navigation system in an in vitro model. MATERIALS AND METHODS: Thirty sawbones were prepared with a defect filled up with a radiopaque gypsum sphere mimicking the osteonecrosis. Twenty sawbones were drilled by guidance of an intraoperative navigation system VectorVision (BrainLAB, Munich, Germany) and 10 sawbones by fluoroscopic control only. RESULTS: No gypsum sphere was missed. There was a statistically significant difference regarding the three-dimensional deviation (Euclidian norm) as well as maximum deviation in x-, y- or z-direction (maximum norm) to the desired mid-point of the lesion, with a mean of 0.51 and 0.4 mm in the navigated group and 1.1 and 0.88 mm in the control group, respectively. Furthermore, significant difference was found in the number of drilling corrections as well as the radiation time needed: no second drilling or correction of drilling direction was necessary in the navigated group compared to 1.4 in the control group. The radiation time needed was less than 1 s compared to 3.1 s, respectively. CONCLUSION: The fluoroscopy-based VectorVision navigation system shows a high feasibility of computer-guided drilling with a clear reduction of radiation exposure time and can therefore be integrated into clinical routine. The additional time needed is acceptable regarding the simultaneous reduction of radiation time.

Decompression, Surgical↗
PubMed2005

Diagnostic value of anti-F-actin antibodies in a French multicenter study.

According to international criteria, autoimmune hepatitis (AIH) type 1 is characterized by the presence of antinuclear or anti-smooth muscle antibodies (SMA) with F-actin specificity. SMA have been found in 85% of AIH patients, but are not specific to this disease, and anti-F-actin specificity is not always verified when SMA are detected. The objective of this study was to determine the diagnostic value of anti-F-actin antibodies in a large population. A multicenter study involving 12 clinical centers was performed. Patients were selected on the basis of the presence of F-actin SMA detected by indirect immunofluorescence (IIF) on rat liver-kidney-stomach sections and was confirmed by IIF on Hep2 cells treated with colchicine, or F-actin dot-blot. The clinical status of patients was determined from their medical records. One hundred sixty-eight patients were included: 76% women, 24% men; mean age of 45 years (range, 2-88 years), with a bimodal age distribution. Sixty percent had AIH type 1, and 40% had another disease. In the group of women younger than 25 years, 90% had AIH type 1. Other pathologies associated with antiactin were other liver diseases (19%), including viral hepatitis C (7%), and non-liver diseases (21%), including connective tissue diseases (12%). Antibody titers were higher in AIH than in other diseases. Antiactin antibodies are of major diagnostic value in AIH, especially in young women; they may be found in other disease settings, but mostly at low levels.

Actins↗
PubMed2004

Prevalence of anti-cyclic citrullinated peptide and anti-keratin antibodies in patients with primary Sjögren's syndrome.

OBJECTIVE: To investigate the prevalence of anti-cyclic citrullinated peptide (anti-CCP) and anti-keratin antibodies (AKA) in patients with primary Sjögren's syndrome. METHODS: 149 patients with a diagnosis of primary Sjögren's syndrome according to the European/American consensus criteria were recruited from three French medical centres. The presence of anti-CCP was determined by enzyme linked immunosorbent assay and of AKA antibodies by indirect immunofluorescence. Radiographs of hands and feet were evaluated at the time of anti-CCP analysis. RESULTS: Six patients with radiological erosions and nine patients with non-erosive arthritis fulfilling ACR criteria for rheumatoid arthritis were thought to have rheumatoid arthritis and secondary Sjögren's syndrome, while 134 were considered to have primary Sjögren's syndrome (mean (SD) disease duration, 11.1 (6.6) years). Of these, 80 tested positive for IgM rheumatoid factor (RF) (59%), 10 (7.5%) for anti-CCP, 7 (5.2%) for AKA, and 5 (3.7%) for both anti-CCP and AKA. There was no difference in clinical and biological features, including prevalence of RF, between anti-CCP positive and negative patients. The nine Sjögren patients with non-erosive arthritis, fulfilling ACR criteria for rheumatoid arthritis, were all CCP positive. Their response to disease modifying antirheumatic drugs could be different from classical rheumatoid patients. CONCLUSIONS: Most patients with primary Sjögren's syndrome are negative for AKA and anti-CCP, but positive test results should not rule out this diagnosis. Anti-CCP positive patients, who may be prone to developing rheumatoid arthritis, require cautious clinical and radiographic follow up.

Adult↗
PubMed2004

Neonatal management of symptomatic transplacental cryoglobulinaemia.

UNLABELLED: This study reports the first case of symptomatic placental transfer of cryoglobulins and discusses the potential pathogenic processes and the basic guidelines for neonatal management. A 32-y-old woman was affected by essential type I cryoglobulinaemia and displayed the cold-triggered cutaneous symptoms of the disease due to a monoclonal immunoglobulin G (IgG) cryoglobulin. She gave birth to healthy dizygotic twins who were placed in incubators immediately after birth and did not show any cutaneous or visceral lesion in the first 2 d. Cyanotic macules appeared on the hand and foot of one of the newborns when they were removed from the incubators. The same monoclonal IgG-lambda cryoglobulin was identified in the two newborns' cord blood and in the mother's serum. The skin lesions disappeared within 1 wk as both twins were transiently replaced in incubators. No recurrence of skin lesions was observed even at room temperature and, 6 mo later, both twins were healthy and their clinical examination was normal. CONCLUSION: To the authors' knowledge, this is the first report of placental transfer of cryoglobulins and the first description of any neonatal effect. Neonates born to mothers suffering from IgG cryoglobulinaemia should be protected against cold to avoid precipitation of the pathogenic cryoglobulins, until spontaneous resolution.

Adult↗
PubMed2004

Evaluation of anti-citrullinated filaggrin antibodies as hallmarks for the diagnosis of rheumatic diseases.

BACKGROUND: Anti-filaggrin antibodies (AFA) are among the most specific antibodies for rheumatoid arthritis, so procedures for their detection should be included in early biological diagnoses. AFA can be detected by indirect immunofluorescence (anti-keratin antibodies, AKA) or by new enzyme immunoassays (EIA). Their comparative performance needs to be established. OBJECTIVE: To compare these technical procedures to optimise the serological diagnosis of rheumatoid arthritis. METHODS: Results obtained using AKA and EIA were compared in 271 sera from 140 patients with rheumatoid arthritis at various stages, 98 patients with other autoimmune diseases, and 33 healthy subjects. EIA were successively undertaken with citrullinated linear filaggrin peptide (home made EIA) or cyclic citrullinated peptide (CCP2, commercial kits). Rheumatoid factor (RF) was assessed by EIA in all patients. RESULTS: Anti-CCP2 kits showed the best sensitivity and specificity (65% and 96%, respectively). Among the 140 patients with rheumatoid arthritis, those with very recent disease (less than six months' duration, n = 21) were studied as a separate group. In this group, the sensitivity of anti-CCP2 kits decreased to approximately 50%. Nevertheless this assay remained the most accurate when compared with AKA or home made EIA using linear filaggrin peptides. The combination of anti-CCP2 and RF only slightly increased the sensitivity of the diagnosis of very early rheumatoid arthritis. CONCLUSIONS: Kits using citrullinated cyclic peptides (CCP2) were more suitable than either AKA or EIA using linear filaggrin peptides for the diagnosis of early rheumatoid disease.

Antibodies↗
PubMed2003

Primary Sjögren's syndrome associated agranulocytosis: a benign disorder?

OBJECTIVE: To report on an uncommon association of agranulocytosis in primary Sjögren's syndrome (SS). METHODS: The clinical, haematological, and immunological features of seven patients with primary SS associated with a chronic (>6 months) agranulocytosis, and the outcome of the patients, were analysed. RESULTS: Patients were white women with an unexplained agranulocytosis. They all had non-erosive arthritis and three had a thrombocytopenia or Evan's syndrome. In three patients, transient or durable expansion of T lymphocytes was present in the peripheral blood or in the bone marrow, but evolved independently from neutrophil counts. There was no paroxysmal nocturnal haemoglobinuria clone or antibodies to neutrophil surface antigens. In vitro bone marrow culture was normal (four patients) or showed a decrease in colony forming unit-granulocyte monocyte (CFU-GM) and colony forming unit-erythroblast (CFU-E) (one patient). Serum levels of soluble Fas ligand (sFasL) were normal, and granulocyte-colony stimulating factor (G-CSF) concentrations were either normal or raised. One patient was treated with steroids associated with intravenous immunoglobulins and achieved a lasting response. Two other patients were treated with steroids and methotrexate, with poor efficacy. Short courses of subcutaneous G-CSF produced a transient and mild response in all three patients. Complete recovery of the neutrophils occurred temporarily during pregnancy in two patients. After a mean follow up of 34.8 months (range 6-139) all patients were alive and none developed serious infections. CONCLUSION: A subset of patients with primary SS and non-destructive arthritis may develop a chronic but well tolerated agranulocytosis that is usually poorly responsive to steroids and oral methotrexate.

Adult↗
PubMed2001

Production of ochratoxin A by Aspergillus carbonarius on coffee cherries.

Robusta coffee cherries collected before and during sun drying from two coffee farms in Thailand were examined for moulds producing ochratoxin A (OA). Aspergillus ochraceus was only detected in one sample, whereas Aspergillus carbonarius was isolated from 7 out of 14 samples. On gamma-irradiated coffee cherries, each of the six tested A. carbonarius strains produced OA. More than 4800 microg kg(-1) of toxin were detected under optimal conditions (25 degrees C, a(w) 0.99). OA production was strongly reduced (230 microg kg(-1)) at an a(w) of 0.94.

Aspergillus↗
PubMed2000

[Clinical significance of antiribosomal antibodies. Study Group on Autoimmunity (GEAI)].

PURPOSE: Autoantibodies directed against the ribosomal P proteins, P0, P1 and P2 (anti-P), have been related to lupus-related psychosis and/or depression. The diagnostic value of antibodies directed against other ribosomal proteins or 28S RNA (anti-no-P) remains unknown. A multicenter study including ten centers belonging to the study group for autoimmune diseases (GEAI) was conducted in order to determine the diagnostic value of anti-P and anti-no-P antibodies in a large population of patients. METHODS: The patients were selected on the basis of the presence of serum anti-ribosomal antibodies detected by indirect immunofluorescence (IF) on rat liver/kidney/stomach/pancreas sections and human HEp2 cells. The clinical course of all patients was studied using a predetermined survey. The specificity of anti-P antibodies were determined by Western blot. RESULTS: Anti-ribosomal antibodies were found in 82 patients. Fifty-five of them had systemic lupus erythematosus and 27 had another disease. Only 54% of the anti-ribosomal antibodies detected by IF were anti-P and were found in 69% of the patients with systemic lupus erythematosus. Anti-no-P antibodies (46%) were preferably detected in patients who suffered from another disease (78%). In patients with systemic lupus erythematosus, neurological and psychiatric disorders were more frequent in the no-P group (47% vs. 16%, P < 0.01) than arthritis, which was found more frequently in the P group (78% vs. 53%, P < 0.05). CONCLUSION: Anti P antibodies do not constitute a specific diagnostic marker of systemic lupus erythematosus, and lupus-related neuropsychiatric disorders would be preferably associated with the presence of anti no-P antibodies.

Animals↗
PubMed1999

Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.

BACKGROUND & AIMS: Despite extensive investigations of portal vein thrombosis, no underlying cause is identifiable in up to 30% of patients. A recently described mutation of the prothrombin gene at nucleotide position 20210 is associated with history of venous thrombosis and was assessed in this study. METHODS: We compared the frequency of factor II G20210A and factor V G1691A (factor V Leiden) mutations in 10 patients with idiopathic portal vein thrombosis, 10 patients with nonidiopathic portal vein thrombosis, 60 patients with deep vein thrombosis of the legs, and 42 control subjects. RESULTS: The frequency of factor II G20210A mutation was increased in patients with idiopathic portal vein thrombosis (40.0%; confidence interval, 3.1%-76.9%) compared with controls (4.8%; confidence interval, 0%-11.5%) or patients with nonidiopathic portal vein thrombosis or deep vein thrombosis (P = 0.0001). In contrast, the frequency of the factor V G1691A mutation was similar in subjects with portal vein thrombosis and in controls but was increased in patients with deep vein thrombosis (P = 0.0001). CONCLUSIONS: The factor II G20210A mutation is frequent in patients with idiopathic portal vein thrombosis and should therefore be assessed under this circumstance.

Adult↗
PubMed1997

Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects.

Analysis of an abnormal C1q molecule of individuals of a Moroccan family by ultracentrifugation in sucrose gradients revealed a low molecular weight C1q (LMW-C1q). We investigated the molecular basis of this defect by sequencing all six exons of the three C1q genes. One point mutation in the codon for Gly at position 15 (GGT) of the B chain was found resulting in an amino acid substitution to Asp (GAT). The exchange not only leads to an interruption of the collagen-like motif Gly-X-Y, but also introduces one negatively charged residue per B chain which results in two additional charges per structural subunit (A-B, C-C, A-B). The mutation which has been identified by DNA-sequencing in the C1q-deficient younger brother of the propositus was confirmed by PCR-EcoRV-RFLP in the sister and the propositus himself. This mutation is very similar to a mutation previously described in another case of functional C1q deficiency where Gly at position 6 of the C chain was substituted by a large positively charged residue (Arg). Again, a LMW-C1q was demonstrated. These point mutations that lead to amino acid substitutions result in the production of a LMW-C1q where the formation of functionally active 11S C1q consisting of three structural subunits appears to be inhibited by the introduction of six additional charges, one per B or C chain, respectively, in the collagenous region of the molecule.

Adolescent↗
PubMed1997

Post-traumatic pleural effusion: demonstration of local complement consumption.

The present case report describes a 27-year-old patient who presented with post-traumatic pleural effusion. Analysis of the pleural fluid showed hypereosinophilia (990 mm-3), a decreased level of total complement, and decreased levels of C3 and C4 fractions (less than 50% of normal serum levels), indicating a local consumption mechanism for complement. Complement serum levels (CH50, C3, C4) were normal. All other aetiologic possibilities were eliminated. This case suggests that the immunopathological mechanism of post-traumatic pleural effusion may involve activation of the classical pathway of complement and a recruitment of inflammatory cells such as eosinophils.

Adult↗
PubMed1996

Structure and expression of the ATFa gene.

The human ATFa proteins belong to the ATF/CREB family of transcription factors. We have previously shown that they mediate the transcriptional activation by the largest E1a protein and can heterodimerize with members of the Jun/Fos family. ATFa proteins have also been found tightly associated with JNK2, a stress-activated kinase. We now report on the structure of the ATFa gene, which mapped to chromosome 12 (band 12q13). Sequence analysis revealed that ATFa isoforms are generated by alternative splice donor site usage. A minimal promoter region of approximately 200 base pairs was identified that retained nearly full transcriptional activity. Binding sites for potential transcription factors were delineated within a GC-rich segment by DNase I footprinting. Expression studies revealed that ATFa accumulates in the nuclei of transfected cells, and the nuclear localization signal was defined next to the leucine zipper domain. As revealed by hybridization with mouse ATFa sequences, low levels of ATFa mRNAs were ubiquitously distributed in fetal or adult mice, with enhanced expression in particular tissues, like squamous epithelia and specific brain cell layers. The possible significance of coexpression of ATFa, ATF-2, and Jun at similar sites in the brain is discussed.

Activating Transcription Factors↗