Biomedical subjects

J Wipff

Publications and source records attributed to J Wipff.

6 recordsLinked to original sources

PubMed2006

Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.

UNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance. OBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population. METHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA. RESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02). CONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc.

Adult↗

PubMed2006

Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population.

The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. Systemic sclerosis (SSc) is a connective tissue disease with some autoimmune abnormalities. The aim of our study was to test for association of the PTPN22*620W allele with SSc in a French Caucasian cohort with a case-control study of 121 patients with SSc and 103 controls. All patients and controls were genotyped for the PTPN22*R620W SNP. No association was found between the PTPN22*620W allele and SSc (7% v 9.2%, p = 0.39). The frequency of genotypes carrying at least one 620W allele was similar in both groups (13% v 17%, p = 0.38). The PTPN22*620W allele was also not associated with autoantibody patterns. Thus, the PTPN22*R620W polymorphism cannot be regarded as a genetic susceptibility factor for SSc in the French Caucasian population.

Adult↗

PubMed2006

Radiological hand involvement in systemic sclerosis.

BACKGROUND: The osteoarticular and soft tissue structures of the hand may be involved in systemic sclerosis (SSc), causing functional disability. OBJECTIVE: To assess radiological hand features in a cross sectional study of SSc patients and in controls. METHODS: Hand radiology was done systematically in patients with SSc seen over a two year period and in unselected controls with rheumatoid arthritis or digital trauma. Two independent investigators blind to the diagnosis carried out the radiological assessment. RESULTS: 120 consecutive SSc patients (median (range) age, 56.5 (20 to 90) years; disease duration, 6 (0 to 42) years) and 42 controls (22 with rheumatoid arthritis and 20 with digital trauma) were studied. Radiological abnormalities in SSc patients included erosion (21%), joint space narrowing (28%), arthritis (defined by concomitant erosion and joint space narrowing) (18%), radiological demineralisation (23%), acro-osteolysis (22%), flexion contracture (27%), and calcinosis (23%). In univariate and multivariate analysis, the resorption of distal phalanges was significantly associated with digital ulcers, extra-articular calcification, and pulmonary arterial hypertension; flexion contracture was associated with the diffuse cutaneous form and high HAQ (Health Assessment Questionnaire) disability score. Calcinosis was most often seen in patients with digital ulcers, but was similarly observed in patients with the diffuse or limited cutaneous subtypes. CONCLUSIONS: Flexion contracture was associated with disability and occurred in patients with the diffuse cutaneous subtype of SSc, consistent with the tendency towards fibrosis and functional impairment of this subtype. Calcinosis and acro-osteolysis were both associated with vascular complications, highlighting a potential role of vascular injury in such lesions.

Adult↗

PubMed2005

Prevalence of Barrett's esophagus in systemic sclerosis.

OBJECTIVE: The esophagus is the most commonly affected gastrointestinal area in systemic sclerosis (SSc). Patients with SSc frequently develop gastroesophageal reflux, esophageal injury, and sometimes, intestinal metaplasia, or Barrett's esophagus (BE), which may increase the risk of esophageal adenocarcinoma. This study sought to determine the prevalence of BE and esophageal adenocarcinoma in a cohort of SSc patients. METHODS: One hundred ten SSc patients who were receiving long-term treatment with proton-pump inhibitors (PPIs) were assessed systematically by esophageal manometry and endoscopy. Esophageal biopsies were performed when macroscopic abnormalities were detected, and BE was diagnosed histologically. RESULTS: Among the 110 patients, 14 had BE (12.7%). None of the patients with BE had adenocarcinoma, but 3 of the 14 patients (21%) had dysplasia on esophageal biopsy. Similar proportions of patients with and without BE had abnormal peristalsis and decreased lower esophageal sphincter pressure. No association between BE and other disease characteristics was demonstrated. CONCLUSION: In this study, 12.7% of SSc patients who had been treated with PPIs for long periods had BE, similar to the prevalence in patients with gastroesophageal reflux disease. Although none of the patients had esophageal adenocarcinoma, patients with BE should be followed up closely, particularly patients with dysplasic BE. Long-term prospective studies are warranted to determine the phenotype of SSc patients at high risk of developing dysplasia or esophageal adenocarcinoma.

Adenocarcinoma↗

PubMed1986

[Traumatic retroplacental hematomas].

In this study the authors present 4 observations of traumatic retroplacental hematomas recorded in the department of obstetrics and gynecology of the general hospital at Meaux between 1979 and 1984. The 4 cases are related to serious injury to the circulation as is shown by a detailed study of the observations. The frequency of these traumatic retroplacental hematomas seems clearly to be on the increase if comparison is made with earlier statistics. The problem of the security girdle is evoked again; the authors themselves think that it should be worn until pregnancy reaches its term. Emergency ultrasonography is the indispensable complement to the obstetric examination carried out on arrival of every pregnancy presenting a trauma enclosed in the abdomen; it may modify the order of the operations to be carried out by the various specialists who are responsible for the surveillance and treatment of these patients; together with monitoring it remains the best means of surveillance of the foetus following a road accident.

Abdominal Injuries↗

PubMedDate not supplied

[Vitamin D and pregnancy: value of a single dose in the third trimester. Comparative study of 100 cases].

A comparative study (100 treated subjects, 100 controls) was carried out at the Centre Hospitalier at Meaux during the winter of 1984-85 in which pregnant women were given single doses of vitamin D to be taken at the seventh month of pregnancy. The results obtained for neonatal blood calcium levels clearly demonstrated the value of vitamin D supplements in pregnant women. This study was original in that a single dose of vitamin D was provided; this led to almost perfect therapeutic observance (99%).

Delivery, Obstetric↗