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J Orfila

Publications and source records attributed to J Orfila.

At least 19 recordsLinked to original sources
PubMed2006

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

BACKGROUND: First, to establish the mutations of the protoporphyrinogen-oxidase (PPOX) gene in four Spanish patients with variegate porphyria (VP). Second, study of carrier status detection in the families, including a four-generation Balearic family. Third, evaluation of the results of carrier detection screening methods. DESIGN: Blood samples of four patients and of 139 members belonging to four families, including four generations of a Balearic family were processed for mutation analysis of the 13 exons of PPOX gene. Biochemical studies were performed together (blood and faecal porphyrin analysis) and plasma fluorescence scanning for 626 nm peak emission detection. A questionnaire regarding clinical manifestations was submitted to all family members studied. RESULTS: Single strand conformational analysis (SSCP) of DNA allowed the detection of the following mutations: W224R, 746delT: exon 7, 1077-1082insC: exon 10, and IVS6+2T-->A. Mutation was present in 19 of the 139 members of the families studied. Clinical manifestations or biochemical alterations were checked in the carriers detected and found as not relevant or not present. Only 11 members of the 19 mutation-bearing individuals showed plasma fluorescence PV peak positivity. CONCLUSION: Demonstration of gene mutation is the most reliable means of detecting carriers in studies of variegate porphyria families. DNA analysis is the most sensitive carrier detection method and also allows transmission behaviour of the genetic defect to be established in successive generations of the affected families.

Adult↗
PubMed2006

Diagnostic value of an ELISA using a recombinant 54-kDa species-specific protein from Chlamydia pneumoniae.

The aim of this study was to evaluate a 54-kDa recombinant protein encoded by the CPn0980 gene for use in a Chlamydia pneumoniae-specific ELISA. The ability of this affinity-purified protein to detect C. pneumoniae-specific antibodies was evaluated with a panel of 105 serum samples from 62 patients with community-acquired pneumonia. The results of this assay were compared with those obtained with a direct PCR-based detection assay and an outer-membrane complex-based immunoassay. The 54-kDa protein induced specific antibodies following infection of humans, and the recombinant 54-kDa ELISA detected anti-C. pneumoniae IgG and/or IgM antibodies with a sensitivity of 66.7% and a specificity of 79.2% compared with the direct PCR-based detection assay.

Adult↗
PubMed2004

Chlamydia pneumoniae IgG serological status and venous thromboembolism: a cross-sectional hospital based study.

OBJECTIVE: To search for a link between Chlamydia pneumoniae serological status and venous thromboembolic disease. METHODS: From March 1992 to October 1999, we conducted a cross-sectional hospital-based study of consecutive unselected outpatients referred to us for clinical suspicion of venous thromboembolism. We compared the Chlamydia pneumoniae serological status with respectively, the venous thromboembolism, the deep vein thrombosis and the proximal deep vein thrombosis status. RESULTS: Among 1193 patients registered for suspected venous thromboembolism, 1010 samples were available (499 negative and 511 positive patients for venous thromboembolism). Seventy-nine patients were Chlamydia pneumoniae positive. Our work failed to demonstrate any clear association between Chlamydia pneumoniae and venous thromboembolism status. Nevertheless, we identified a statistical difference regarding Chlamydia pneumoniae seropositivity and proximal vein thrombosis status (adjusted odds ratio of 1.70, CI95%: 1.05 to 2.77). CONCLUSION: The presence of Chlamydia pneumoniae antibodies might be a minor risk factor for venous thrombosis.

Aged↗
PubMed2004

[Chlamydia trachomatis urogenital infections in women. Best diagnostic approaches].

Chlamydiae are obligate intracellular bacteria. Chlamydia trachomatis is the most common sexually transmitted disease (STD). The C. trachomatis damaging disease sequelae such as sterility is based on intense and chronic inflammation elicited and maintained by reinfection or persistent infection. The high prevalence of C. trachomatis infection reflects the long and successful adaptation of these organisms to persist in their human host population. The large group of asymptomatically infected persons is not only at risk of serious long-term sequelae but also sustains transmission within communities. C. trachomatis acute infections have been diagnosed by cell culture, direct immunofluorescence, enzyme immunoassay, direct DNA hybridization, and more recently by nucleic acid amplification tests (NAATs). In chronic or persistent chlamydial infections, the level of Chlamydia is very low and bacteria are often not viable. Such infections would be characterized by continuing positive NAATs but only intermittent isolation of viable Chlamydia and positive assays for chlamydial protein antigen. The development of NAATs has been a major advance in the field of chlamydial diagnosis. The use of NAATs associated with serology test is the best diagnosis. The introduction of assays based on amplification of genetic material has subsequently increased the sensitivity of detecting chlamydial infections and offers the opportunity to use non-invasive sampling techniques to screen for infections in asymptomatic subjects. In this article, it was proposed the best diagnosis approaches for detection of acute and chronic infections.

Acute Disease↗
PubMed2002

[Submitral annular aneurysm, postpartum cardiomyopathy, and anti-Chlamydia pneumoniae antibodies in Niamey (Niger)].

Idiopathic annular submitral left ventricular aneurysm has been described mainly in young Africans living in tropical countries. Association with peripartum cardiomyopathy has been previously pointed out. The purpose of this report is to describe 3 patients with idiopathic annular submitral left ventricular aneurysm identified in a series 50 patients with peripartum cardiomyopathy in Niamey, Republic of Niger. Anti-Chlamydia pneumoniae antibody status was determined in all 50 patients using the micro-immunofluorescence technique that differentiates IgG, IgA and IgM antibodies. Findings showed that all 3 patients with annular submitral left ventricular aneurysm had significantly elevated plasma IgG and IgA anti-Chlamydia pneumoniae antibody levels at the time of diagnosis. In one patient analysis of 2 samples collected 3 months apart indicated chronic elevation with exceptionally high IgG antibody levels (1/2048e). These previously unreported data suggest a possible link between Chlamydia pneumoniae and development of peripartum cardiomyopathy and annular submitral left ventricular aneurysm. This possibility is supported by recent evidence that specific IgA anti-Chlamydia pneumoniae antibodies may be predictive of aortic abdominal aneurysms.

Adolescent↗
PubMed2002

[Systematic screening for Chlamydia trachomatis with the molecular biological AMP-CT test in urine samples from young women].

OBJECTIVE: We report the results of a systematic direct detection screening protocol for Chlamydia trachomatis in urine samples from young women. MATERIAL AND METHOD: The study included 1026 patients aged 13 to 30 years. Urine samples were tested with a molecular biology assay: AMP-CT. RESULTS: Thirty-five patients (3.4%) were positive: 80% of the positive patients were aged less than 25 years, 48.6% less than 20 years. All these patients were treated and post treatment controls were negative. CONCLUSION: This study suggests that national screening programs for Chlamydia trachomatis could be beneficial for women aged between 15 and 25 years and that the "Calmat" law could be modified in consequence.

Adolescent↗
PubMed2001

[The relationship between Chlamydia pneumoniae and atherosclerosis].

BACKGROUND: Risk factors for arthrosclerosis have been well identified. More than ten years ago, an infectious process was incriminated, particularly the pathogenic effect of Chlamydia pneumoniae in the development of atheromatous lesions responsible for ischemic cardiovascular diseases. DATA BASES: Several approaches have been used to assess the presence of a relationship between C. pneumoniae and the development of cardiovascular disease. Serological, histopathological (study of the atheromatous plaque), pathophysiological, and finally animal studies using models reproducing the human disease have generally favored an association. Therapeutic trials, especially those testing roxithromycin or azithromycin have demonstrated the action of secondary prevention of ischemic heart disease (unstable angina, myocardial infarction). CONCLUSION: The notion of an association between these two factors is biologically plausible. Several points remain to be clarified, particularly the need to develop a reliable diagnostic method for C. pneumoniae infections. It would also be useful to prove the viability of the pathogen within atheromatous plaques and finally to design studies of immune response to C. pneumoniae infections. Prospective therapeutic trials for primary prevention of cardiovascular disease would be most informative but would be most difficult to conduct.

Animals↗
PubMed2001

Detection of Chlamydia trachomatis in semen and urethral specimens from male members of infertile couples in Tunisia.

The sequelae to infection with Chlamydia trachomatis in women are an established cause of tubal infertility. However, little is known about chlamydial infection and male infertility. The main objective of this study was to evaluate the presence of asymptomatic C. trachomatis infections in urethral and semen specimens from the male members of infertile couples by means of four different methods: the direct fluorescence antibodies assay, cell culture, the Roche Cobas Amplicor polymerase chain reaction, and the presence of chlamydial local IgA antibodies by the recombinant antibody-enzyme-linked immunosorbent assay. One or more chlamydial infection markers were detected in 42 (45.7%) of the 92 examined urethral and semen specimens from the male partners of infertile couples. C. trachomatis was detected in 23.9% (22/92) of urethral specimens and in 35.9% (33/92) of semen specimens. Although there was a significant correlation between the detection of one or more chlamydial infection markers in urethral and semen specimens (p = 0.01), no significant correlation was found between the detection of C. trachomatis DNA in these samples. Furthermore, no significant association was found between the presence of chlamydial local IgA antibodies and the detection of C. trachomatis. The discrepancies in positive results found between some techniques for the detection of C. trachomatis in urethral and semen specimens might be explained by variations in the sensitivities and specificities of the tests carried out and the use of specimens from different anatomical locations. Our findings suggest that C. trachomatis seems to be widespread among the male partners of infertile couples in Tunisia. The detection of C. trachomatis in urethral or semen specimens can serve as a marker for the presence of this organism in the genital tract, which is not necessarily the cause of male infertility. The study of the correlation between the detection of chlamydial infection markers and the parameters of male fertility seems to be necessary in order to determine the direct link between chlamydial infection and male infertility and to choose the most efficient technique and most suitable specimen with which to diagnose C. trachomatis-associated male infertility.

Adult↗
PubMed2001

Chlamydia trachomatis and male infertility in Tunisia.

OBJECTIVE: Chlamydia trachomatis is a common sexually transmitted micro-organism. The impact of chlamydial infection on semen parameters and male fertility is controversial. Our purpose was to determine the prevalence of C. trachomatis in the male partners of infertile couples in Tunisia and to assess the relationship between chlamydial infection markers and male infertility. METHODS: Chlamydial DNA in urethral and in semen specimens was determined by using the Cobas Amplicor polymerase chain reaction (PCR) assay and chlamydial immunoglobulin G (IgG) antibodies were measured by micro-immunofluorescence in serum samples in 92 male partners, with or without pathological standard semen parameters, according to the guidelines of the World Health Organization (sperm count, progressive sperm motility, sperm morphology and sperm viability). In parallel, chlamydial infection markers in endocervical material were determined by PCR and chlamydial IgG antibodies were measured by micro-immunofluorescence in serum samples from the female partners of the patients. RESULTS: C. trachomatis was found in 35.9% (33/92) of the male partners of the infertile couples and in 38% (35/92) of their female partners. There was a significant correlation between the detection of C. trachomatis in both partners (p = 0.004). C. trachomatis DNA was detected in 18.5% (17/92) of urethral specimens and in 16.3% (15/92) of semen specimens. Chlamydial IgG antibodies were present in 9.8% (9/92) of the serum samples. A standard semen analysis showed that 88% (81/92) were pathological. Sperm viability, progressive sperm motility, morphology and sperm concentration were abnormal in 73.8%, 70.2%, 34.5% and 13%, respectively, of the 92 evaluated semen specimens. Comparison of the parameters of the standard semen analysis between the male partners of the infertile couples with or without chlamydial infection markers showed that only the presence of C. trachomatis DNA in semen samples can affect sperm motility. Parameters of the standard semen analysis were not significantly related either to the detection of chlamydial DNA in urethral samples or to the presence of serum chlamydial antibodies. CONCLUSION: Our results show that C. trachomatis seems to be widespread among the male partners of infertile couples in Tunisia and show that this organism can affect sperm motility and, thus, can play an important role in the etiology of male infertility.

Adult↗
PubMed2000

Effect of prior exposure to Chlamydia pneumoniae, Helicobacter pylori, or cytomegalovirus on the degree of inflammation and one-year prognosis of patients with unstable angina pectoris or non-Q-wave acute myocardial infarction.

Inflammation and chronic infections may be important features in the pathogenesis of acute coronary syndromes. We describe 6 systemic markers of inflammation in patients with unstable angina or non-Q-wave myocardial infarction and the relations between these markers, seropositivity to chronic infections, and prognosis. C-reactive protein (CRP), serum amyloid A protein (SAA), fibrinogen, interleukin-6 (IL-6), neopterin, procalcitonin, and serum antibody levels to Chlamydia pneumoniae, Helicobacter pylori, and cytomegalovirus were measured on admission and 48 hours later. One-year clinical follow-up was performed. Plasma levels of acute phase reactants were all elevated on admission and increased further at 48 hours: CRP from 10.1 +/- 2.1 mg/L at baseline to 26.6 +/- 5.1 mg/L at 48 hours (p <0.001); SAA from 27.3 +/- 8.5 to 93.1 +/- 23.2 mg/dl (p <0.005); fibrinogen from 3.2 +/- 0.1 to 3.8 +/- 0.1 g/L (p <0.0001); whereas initial high levels of IL-6 tended also to increase from 9.8 +/- 2 to 15.3 +/- 3.1 pg/ml (p = NS). In contrast, neopterin and procalcitonin remained unchanged. We found no association between levels of each inflammatory marker and the serologic status. Furthermore, levels of inflammatory proteins in patients seronegative to all 3 agents were comparable to those of patients seropositive to 2 or 3 infectious agents. The composite end points of death, myocardial infarction, recurrent angina, or revascularization at 1-year follow-up did not differ according to the serologic status. Thus, in patients with acute coronary syndromes, the acute phase proteins increased over the first 2 days of hospitalization. This initial inflammatory reaction as well as the 1-year clinical outcome did not differ according to the initial serologic status of Chlamydia pneumoniae, Helicobacter pylori, or cytomegalovirus.

Acute-Phase Proteins↗
PubMed2000

Chlamydia pneumoniae serology: interlaboratory variation in microimmunofluorescence assay results.

The lack of standardization in chlamydia serology has made interpretation of published data difficult. This study was initiated to determine the extent of interlaboratory variation of microimmunofluorescence (MIF) test results for the serodiagnosis of Chlamydia pneumoniae infections. Identical panels of 22 sera were sent to 14 laboratories in eight countries for the determination of IgG and IgM antibodies by MIF. Although there was extensive variation in the numeric titer values, the overall percentage agreement with the reference standard titers from the University of Washington was 80%. For results by serodiagnostic category, the best agreement was for four-fold rise in IgG titers, while the lowest agreement was for negative or low IgG titers. Agreement for IgM titers was 50%-95%. Four laboratories failed to discern false-positive IgM titers possibly because of the presence of rheumatoid factor. Further studies are underway to determine the source of interlaboratory variation for the MIF test.

Antibodies, Bacterial↗
PubMed2000

[Chlamydia infection and peripartum dilated cardiomyopathy in Niger].

Peripartum cardiac failure due to cardiomyopathy is common in sub-saharan Africa. The etiology is unknown. This study was performed in Niger to assess a possible relationship between peripartum cardiomyopathy and Chlamydia. A total of 50 African women presenting peripartum cardiomyopathy underwent testing for infection by Chlamydia pneumoniae, Chlamydia trachomatis, and Chlamydia psittaci. The inclusion criteria were cardiac failure during the last three months of pregnancy or first 6 months postpartum with echocardiographic evidence of dilated cardiomyopathy. Similar testing was carried out in a control group of 25 African women from the same geographical location without cardiac disease. Detection of specific IgG, IgA and IgM antibodies was performed using the microimmunofluorescence technique. The cut-off values were > or = 1/32 for specific IgG antibody and > or = 1/16 for specific IgA and IgM antibody. Statistical comparison of the patient and control groups was achieved using the chi 2 test. For Chlamydia pneumoniae, 48 patients (96 p. 100) versus 20 controls (80 p. 100) controls were positive for IgG antibodies (p < 0.025) and 39 patients (80 p. 100) versus 14 controls (56 p. 100) were positive for IgA antibodies (p < 0.05). No patient or control demonstrated IgM antibodies for Chlamydia pneumoniae. For Chlamydia trachomatis and Chlamydia psittaci, differences in positive rates were not statistically significant. This is the first study demonstrating infection in patients with peripartum cardiomyopathy. The possible role of Chlamydia pneumoniae is discussed.

Adult↗
PubMed1999

Serological investigation of Chlamydia trachomatis heat shock protein 10.

The humoral immune response to Chlamydia trachomatis 10-kDa heat shock protein (Chsp10) in populations of Russian and French origin was studied by using a recombinant Chsp10 enzyme-linked immunosorbent assay. A physiological but not a serological correlation of Chsp10 exposure with Chsp60 exposure was observed in the Russian population. In the French population studied, there was a significant association between detection of anti-r-Chsp10 immunoglobulin G (IgG) antibodies and chronic genital tract infections. Chsp10 residues 50 to 67 were found to contain an immunodominant although not universal B epitope. Cross-reactions with Chlamydia pneumoniae or Escherichia coli GroES protein are limited but may occur. Our study suggests that detection of anti-Chsp10 IgG antibodies is associated with chronicity of C. trachomatis genital tract infection and does not parallel that of anti-Chsp60 IgG antibodies.

Amino Acid Sequence↗
PubMed1999

The species specificity of the microimmunofluorescence antibody test and comparisons with a time resolved fluoroscopic immunoassay for measuring IgG antibodies against Chlamydia pneumoniae.

AIMS: To examine the species specificity of the microimmunofluorescence test (MIF) and assess a time resolved fluoroscopic immunoassay (TRIA) for measuring IgG antibodies to C pneumoniae. METHODS: Sera from 1020 subjects were tested by MIF for IgG, IgM, and IgA antibodies to C pneumoniae, C trachomatis, and C psittaci; 501 serum samples were also tested by TRIA for IgG antibodies to C pneumoniae. RESULTS: C pneumoniae antibody titres as measured by MIF were correlated with those for C psittaci and trachomatis. It was estimated that on average, one third of the twofold dilution steps that make up the final C pneumoniae antibody titre may be due to cross reacting genus specific antibody. The results of TRIA correlated well with those of MIF. In 75% of cases, the TRIA result predicted a three titre range within which the actual MIF result would fall. CONCLUSIONS: MIF does not appear to be as species specific as claimed. TRIA is unlikely to be as specific but as it is completely objective, easier to perform, amenable to automation, and gives reproducible results, it is a rapid and useful method for comparing populations.

Aged↗