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Biomedical subjects

D Olivier

Publications and source records attributed to D Olivier.

At least 19 recordsLinked to original sources
PubMed2001

Genetic predisposition and pathogenetic mechanisms of interstitial lung diseases of unknown origin.

Understanding of the cellular and cytokine interactions associated with inflammation and fibrosis in interstitial lung diseases (ILDs) has increased substantially during the past few years. Presently, many agents are known to have the ability to induce ILDs, although only a small percentage of exposed individuals will develop the disease. In addition, the majority of ILDs are of unknown origin and many are labelled "idiopathic". Therefore, host susceptibility, genetic factors and, possibly, environmental cofactors may be important for the clinical expression of ILDs. The present review reports evidence of the genetic predisposition to develop ILDs of unknown origin, more specifically sarcoidosis, idiopathic pulmonary fibrosis (IPF), lymphangioleio-myomatosis and ILDs, in systemic sclerosis. For instance, for sarcoidosis and IPF several histocompatibility antigens have been associated with the development and/or the clinical presentation of the disease. Furthermore, there are also several types of ILD that are associated with inherited disorders, of which the tuberous sclerosis complex is only one example. This clearly indicates that pulmonary fibrosis can be influenced by genetic factors. Familial occurrence of sarcoidosis and IPF is also well known, although the exact modes of inheritance are debatable. Several studies have shown that extrinsic factors, such as single or multiple fibrosing agents, probably contribute to the development of clinical ILDs of unknown origin. It is probable that some of these studies deal with patients who do not have classical IPF, as recently defined by the American Thoracic Society (ATS)/European Respiratory Society (ERS) consensus. Therefore, the true role of these extrinsic factors in the development of IPF, or even sarcoidosis, remains speculative. With the help of animal studies and, more specifically, by using knock-out mice, it may be possible in the near future to unravel at least some of the genes that are responsible for the increased susceptibility of the development of interstitial lung diseases.

Animals↗
PubMed1997

[Meckel syndrome. Update on a recurrent case].

Meckel's syndrome is an autosomal recessive disorder classically defined by occipital encephalocele, multicystic kidneys and polydactyly. However, a very wide phenotypic spectrum is characteristic of Meckel's syndrome. The prenatal diagnosis of this lethal syndrome is approached with ultrasound examination. The karyotype has to be done in order to make the differential diagnosis, especially with Trisomy 13 or 18. The rate of the Meckel's syndrome's gene is 1/400. The isolation of the specific gene will be soon helpful to define the Meckel's syndrome precisely.

Abnormalities, Multiple↗
PubMed1995

[Myositis ossificans progressiva].

BACKGROUND: Myositis ossificans progressiva is a rare progressive disease of connective tissue with a poor prognosis. CASE REPORT: A 16 year-old girl suffered from lameness of her right leg associated with inguinal swelling. Progressive aggravation of pain with extension of swelling to the posterior part of her thigh required an X-ray examination which showed hip dysplasia and calcifications around the hip. Angiography was normal; a diagnosis of hematoma was suggested by scannography and bone scintigraphy, but biopsy showed features of nodular fasciitis. The association of progressive ectopic ossification to malformation of the big toe led to diagnosis of myositis ossificans progressiva. CONCLUSIONS: Congenital malformations, most commonly of big toes and thumbs, are important for distinguishing myositis ossificans progressiva from other diseases of muscle.

Adolescent↗
PubMed1985

[Early biopsy of chorionic villi. Personal experience and review of the literature].

Chorionic villus biopsies made during the first trimester of pregnancy offer the advantage of earlier antenatal diagnoses than usual methods. This technic was introduced about 15 years ago but recently improved thanks to innovations in equipment and the contribution of echography. 75 biopsies were made using aspiration technic by echographic-guided catheter. These biopsies were carried out before elective abortion, 18 in an ambulatory setting one to three weeks before the abortion in order to test the social acceptability and tolerance of this method, as well as the inherent risks involved. The biopsy technic is described as well as preliminary results of chromosomic analyses of biopsied chorionic tissues. Drawing from a perspicacious review of the literature, the respective advantages of various biopsy technics and their uses (i.e. sex determination and chromosome analyses by culture and especially direct methods, study of fetal DNA, and enzyme assay) are examined. Finally, the risks of biopsy technic in the immediate and near future are discussed, and the indications today for this new technic are described.

Abortion, Therapeutic↗
PubMed1980

[Septo-optic dysplasia with congenital hypopituitarism (author's transl)].

The syndrome of septo-optic dysplasia with congenital hypopituitarism consists of optic nerve hypoplasia, midline malformations of the prosencephalon and hypothalamic hypopituitarism. There is great variability of these features and clinical manifestation is age-dependent: Newborns present with hypoglycemic seizures, apnea, cyanosis, hypotonia, prolonged jaundice (and micropenis in boys) because of growth hormone and/or ACTH-deficiencies. Wandering eye movements and more or less visual disturbance become evident during infancy and growth retardation even later in some cases. Early recognition is facilitated by the pathognomonic fundoscopic findings, together with normal electroretinogram, absent visually evoked potentials and computer tomography. Early hormone substitution is essential to prevent hypoglycemic damage.

Electroretinography↗
PubMed1978

[Postoperative fitting of soft contact lenses in aphakia. (A trial with Weicon 38 and Weicon 72) (author's transl)].

In a controlled clinical pilot study 48 aphakic eyes were fitted with HEMA soft lenses on the 3rd postoperative day. An optically satisfactory and wearable fit was obtained neither with the conventional hydrated Weicon 38, nor with the highly hydrophilic Weicon 72. The main reasons were centralizing and motility defects of the lenses, which might be eliminated by an improved lens design. A further 57 patients showed an increase in corneal thickness following cataract extraction. The early fitting of permanent soft aphakic lenses should be delayed until the 4th day postoperatively, by which time the oedema has reduced and the cornea has reached approximately its pre-operative thickness.

Cataract Extraction↗
PubMed1977

Primary vitrectomy as a preventive surgical procedure in the treatment of severely injured eyes.

The results of treating 72 severely injured eyes by primary vitrectomy combined with anterior and posterior segment reconstruction are presented. This approach aims at improving the visual prognosis by allowing fundus examination and immediate retinal surgery where indicated, and by preventing the more severe complications associated with vitreous and anterior segment disorganisation. The prospects for improved visual results and the problems encountered, particularly secondary haemorrhage, are discussed.

Adolescent↗