PubMed Health⌕ Search

Biomedical subjects

L Devisme

Publications and source records attributed to L Devisme.

At least 19 recordsLinked to original sources
PubMed2006

[Genetics and orthopedics: genetic implications of congenital limb abnormalities].

Limb malformations are frequent. These malformations are isolated or associated with anomalies of other developmental fields and accurate diagnostic is essential for prognosis evaluation, treatment and genetic counseling. Animal embryology and molecular biology techniques, have given us a better understanding of the processes of growth and patterning of the limb buds. The key genes that are involved in these processes have been identified and their interactions recognized. Human genetics has been able to identify, or at least localize, several genes implicated in limb development. We here review the present knowledge on these genes and their mutations responsible for limb anomalies.

Extremities↗
PubMed2006

[Benckiser's hemorrhage: severe and inevitable?].

Benckiser's hemorrhage is a rare affection associated with 75-100% neonatal mortality. It is due to the rupture of one or more velamentous and previa vessels. We report two cases, one of which was fatal for the child despite immediate neonatal management. This illustrates how difficult the obstetrical and neonatal management of this affection is. Risk factors for velamentous insertion of the cord and vasa previa are multiple pregnancies, low lying placenta, bilobed and succenturiate-lobed placenta. First we specify the pathophyisiological implication of this severe hemorrhage, then the means to diagnose fetal bleeding or vasa previa. This knowledge could allow us to develop strategies to screen women sonographically to detect vasa previa. Unfortunately the benefits, risks, limits and cost of such strategies remain unknown.

Adult↗
PubMed2005

Effects of antenatal glucocorticoids on circulatory adaptation at birth in the ovine fetus.

OBJECTIVE: Adaptation to extra-uterine life requires dramatic increase in pulmonary blood flow. Mechanisms that induce pulmonary vasodilatation at birth are incompletely understood but include alveolar ventilation, increase in PaO2, and production of vasoactive mediators. We hypothesized that antenatal glucocorticoids (GC) increase pulmonary vasodilatation to birth-related stimuli. STUDY DESIGN: To test this hypothesis, we studied the pulmonary hemodynamic response at birth to mechanical ventilation with low (<10%) and then with high (100%) FiO2 in chronically prepared late-gestation fetal lambs treated or not by antenatal maternal steroids. RESULTS: Basal mean aortic and pulmonary artery pressure (PAP), left pulmonary blood flow, pulmonary vascular resistance (PVR), and blood gas were similar between control and dexamethasone-treated animals (GC group). During mechanical ventilation with low FiO2, mean PVR decreased by 40% in the control group (from 0.44 +/- 0.01 to 0.25 +/- 0.01 mm Hg/ml/min) and by 60% in the GC group (from 0.44 +/- 0.02 to 0.19 +/- 0.02 mm Hg/ml/min) (p < 0.01). When subsequently ventilated with 100% O2, there was no difference in PVR decrease between groups (0.15 +/- 0.02 mm Hg/ml/min in the GC group vs. 0.14 +/- 0.01 mm Hg/ml/min in the control group). CONCLUSION: Antenatal GC enhance pulmonary vasodilatation induced by alveolar ventilation at birth but do not alter the pulmonary vascular response to O2. We speculate that antenatal steroids exposure improve adaptation at birth through acceleration of both parenchymal and vascular lung maturation.

Adaptation, Physiological↗
PubMed2004

[Cerebellar cortical dysplasia: MRI aspects and significance].

Because it is now possible to obtain high-resolution multiplanar MR imaging of the cerebellum and because of the developing interest on the role of the cerebellum on higher brain functions, we have decided to study the process of cerebellar fissuration. All brain MRI examinations performed in children for varied neurological and neurosurgical indications, especially children with non-specific mental retardation and patients with cerebral malformation detected at initial imaging work-up, were reviewed. Fissuration and lobulation anomalies (abnormal orientation of fissures, pseudopolymicrogyria, cortical thickening, subcortical cysts and heterotopia) were identified that we called cerebellar cortical dysplasia (CCD). In order to better understand the origin of this malformation, current data on cerebellar embryogenesis and histogenesis will be reviewed, and the pathological and radiological features will be illustrated. Milder forms of CCD represent a distinct group of anomalies that should be distinguished from other types of cerebellar dysplasia (agenesis, hypoplasia or complex dysplasia with involvement of the cerebellar vermis (rhombencephalosynapsis)) or combined cerebellar and cerebral dysplasia (muscular dystrophies and lissencephaly). Recognition of cerebellar cortical dysplasia could be a first step towards a broader understanding of its pathogenesis and significance.

Adolescent↗
PubMed2003

[Hypertrophic pulmonary osteo-arthropathy revealed by a pulmonary epithelioid hemangioendothelioma in a 15-year-old girl].

UNLABELLED: Pulmonary epithelioid hemangioendothelioma is a rare vascular tumor of the lung, that may be revealed by hypertrophic pulmonary osteo-arthropathy. CASE REPORT: A 15-year-old patient was admitted because of a 1-month history of pneumonia associated with clubbing. A hypertrophic pulmonary osteo-arthropathy due to a paraneoplastic syndrome associated with lung epithelioid hemangioendothelioma was diagnosed. Despite surgical resection and chemotherapy, the patient died 6 months later. COMMENTS: Hypertrophic pulmonary osteo-arthropathy is a rare syndrome in childhood, and is frequently associated with chronic respiratory failure. Diagnosis is confirmed by long bones proliferative periostitis on standard X-ray examination. Pulmonary epithelioid hemangioendothelioma is a rare vascular malignant tumor, that spreads from the vascular pulmonary or hepatic tissues. The prognosis is variable, depending on the malignancy of the tumor. In the absence of a chronic cardiorespiratory disease, the diagnosis of a pulmonary hypertrophic osteo-arthropathy in childhood should prompt the search for a tumoral cause.

Adolescent↗
PubMed2003

[Congenital pulmonary lymphangiectasia revealed by cardiac arrest].

UNLABELLED: Congenital pulmonary lymphangiectasia is a rare cause of respiratory distress in the neonatal period. Cardiac arrest may be its first manifestation. CASE REPORT: We report the case of a full term newborn who suffered at 30 min of life a sudden cardiac arrest. Despite intensive support, the patient died 5 h later. Lung examination showed pulmonary lymphangiectasia. CONCLUSION: Congenital pulmonary lymphangiectasia may be revealed by a sudden neonatal cardiac arrest. Pulmonary lymphangiectasia should be suspected in any newborn who develops early in life an unexplained refractory hypoxemia with radiographic reticulonodular images and uni or bilateral pneumothorax. The diagnosis is established at lung microscopy.

Fatal Outcome↗
PubMed2003

[Fetal thoracic MR imaging].

Ultrasonography is the method of choice for prenatal malformation screening, but it does not always provide sufficient informations to allow a correct diagnosis or an adequate abnormality evaluation. Fetal MRImaging (MRI) indications are increasing in order to complete sonographic findings. It has been initially used for evaluation of cerebral abnormalities, but it is more and more applied to other fetal areas. An adequate analysis of fetal chest and abdomen can be obtained with fast T2 and T1 weighted sequences. This allows an easy diagnosis of congenital diaphragmatic hernia and an evaluation of the consequences on pulmonary growth. Other pulmonary malformations can be also easily identified (cystic adenoid malformation, sequestration, bronchogenic cyst, tracheal or bronchial atresia). Therefore, fetal thoracic MRI contributes to a better understanding and evaluation of fetal thoracic malformations, which is particularly useful for their postnatal management.

Bronchi↗
PubMed2003

Immunolocalization of inhibin and activin alpha and betaB subunits and expression of corresponding messenger RNAs in the human adult testis.

Inhibin B is a testicular peptide hormone that regulates FSH secretion in a negative feedback loop. Inhibin B is a dimer of an alpha and a beta(B) subunit. In adult testes, the cellular site of production is still controversial, and it was hypothesized that germ cells contribute to inhibin B production. To determine which cell types in the testes may produce inhibin B, the immunohistochemical localization of the two subunits of inhibin B were examined in adult testicular biopsies with normal spermatogenesis, spermatogenic arrest, or Sertoli cell only (SCO) tubules. Moreover, using in situ hybridization with mRNA probes, the mRNA expression patterns of inhibin alpha and inhibin/activin beta(B) subunits have been investigated. In all testes, Sertoli cells and Leydig cells showed positive immunostaining for inhibin alpha subunit and expressed inhibin alpha subunit mRNA. Using inhibin beta(B) subunit immunoserum on testes with normal spermatogenesis and with spermatogenic arrest, intense labeling was located in germ cells from pachytene spermatocytes to round spermatids but not in Sertoli cells. Inhibin beta(B) subunit mRNA expression was intense in germ cells from spermatogonia to round spermatids and in Sertoli cells in these testes. In testes with SCO, high inhibin beta(B) subunit mRNA labeling density was observed in both Sertoli cells and Leydig cells, whereas beta(B) subunit immunostaining was negative for Sertoli cells and faintly positive for Leydig cells. These results agree with the recent opinion that inhibin B in adult men is possibly a joint product of Sertoli cells and germ cells.

Activins↗
PubMed2002

Expression of human mucin genes in normal kidney and renal cell carcinoma.

AIMS: Human mucins are large O-glycoproteins expressed by epithelial cells. Mucins are thought to be implicated in cell protection, cell adhesion and signalling. The aim of this study was to investigate the expression of the human mucin genes (MUC1-4, 5AC, 5B, 6-7) in normal kidney and renal cell carcinoma. METHODS AND RESULTS: We analysed by in-situ hybridization, immunohistochemistry and reverse transcriptase-polymerase chain reaction (RT-PCR) the expression of these genes in normal adult kidney (n=14) and renal cell carcinomas (n=29). MUC1, MUC3 and MUC6 were expressed both in normal kidney and in renal carcinomas. In normal kidney, MUC1 was expressed in the distal convoluted tubules and in collecting ducts, whereas MUC3 was restricted to the proximal tubules. MUC4 was strongly expressed in epithelial urothelial cells of pyelocalyceal cavities. MUC6 was only detected by RT-PCR. In renal carcinoma, we showed a heterogeneous expression of MUC1 and MUC3 with an over-expression of MUC3 in renal clear cell carcinoma. The level of MUC3 expression by in-situ hybridization was associated with the nuclear grade in clear cell carcinoma. CONCLUSIONS: This study is the first large series investigating human mucin gene expression in the kidney. MUC1, MUC3 and MUC6 are expressed in normal and tumour kidney. The over-expression of MUC3 in renal cell carcinomas favours its implication in renal tumorigenesis.

Biomarkers, Tumor↗
PubMed2002

Neonatal cholestasis and infantile Gaucher disease: a case report.

AIM: To report on clinical complications of liver disease occurring during Gaucher disease. METHODS: A case of Gaucher disease was revealed by neonatal cholestasis and early onset of portal hypertension. RESULTS: At 7 d of age, a newborn was admitted for cholestasis associated with hepatosplenomegaly and thrombocytopenia. At that time, bone marrow aspirate and liver biopsy did not reveal any engorged cells. The clinical course was marked by early progressive portal hypertension, and the patient died of uncontrollable upper gastrointestinal bleeding. The histological results of the postmortem showed that Gaucher cells were present in the liver, spleen and bone marrow. The diagnosis was confirmed by enzymatic studies. CONCLUSION: Isolated neonatal cholestasis could be the first sign of Gaucher disease. Gaucher disease should always be considered in such circumstances, even if, initially, the bone marrow aspirate and liver biopsy do not reveal any engorged cells.

Age of Onset↗
PubMed2002

[Placental chorioangiomas diagnosed during the second trimester of pregnancy: four cases].

Placental chorioangioma is a benign vascular tumor found in about 1% of pregnancies at routine histological examination of the placenta. The large placental tumor may cause serious fetal complications. We report 4 cases of placental chorioangioma diagnosed during the second trimester. Three pregnancies with rapidly growing tumors measuring more than 4 cm led to fetal hydrops and perinatal death despite thoracocentesis and cesarean delivery at 33 weeks (1 case) and repeated amniodrainage (1 case). The only surviving infant presented with a 3.3cm tumor which grew progressively to 8 cm at 38 weeks and did not induce polyhydramnios or hydrops. Although aggressive prenatal management of placental chorioangioma has been reported using amniodrainage, intrauterine transfusions, embolization, or ligation of the tumor vessel supply, prognosis remains poor for large tumors and largely depends on fetal hemodynamic tolerance.

Adult↗
PubMed2002

[Cerebral fetal MRI and ventriculomegaly].

OBJECTIVE: To evaluate MRI usefulness in diagnosis and management of fetuses with cerebral ventriculomegaly at US. PATIENTS AND METHODS: Sonography depicted cerebral ventriculomegaly in 61 fetuses. Management included MRI in all cases and infectious screening, and karyotype in 51 cases. Final diagnosis was supported by fetal autopsy (n=24), postnatal follow-up>6 months (n=19), infectious screening or karyotype (n=8), and MR imaging when diagnosis was obvious (n=16). RESULTS: MRI was more informative than ultrasonography in 32.8% of cases with identification of the etiology in 21.3% of cases. In 45% MRI and sonography were considered to be normal. In the remaining cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. Ultrasonography never depicted more anomalies than MR imaging. The 2 false negatives were gyration disorders but MR imaging was performed too early. CONCLUSION: US is the imaging modality of choice in the evaluation of fetal anomalies but MRI has to be systematically performed in case of cerebral ventriculomegaly because MRI demonstrates its usefulness in patient counseling, even if there are a few false negative results.

Abortion, Therapeutic↗
PubMed2001

Normal respiratory mucosa, precursor lesions and lung carcinomas: differential expression of human mucin genes.

Mucins are glycoproteins synthesized by epithelial cells and thought to promote tumor-cell invasion. Eight human mucin genes have been well characterized: MUC2, MUC5AC, MUC5B, MUC6 map to 11p15.5 and encode secretory gel forming mucins while MUC1, MUC3, MUC4, MUC7 are scattered on different chromosomes and encode membrane-bound or secreted mucins. The expression pattern of the mucin genes is complex in normal airways involving six genes, mainly MUC5AC and MUC5B in mucus-producing cells and MUC4 in a wide array of epithelial cells. MUC5AC overexpression in metaplasia, dysplasia and normal epithelium adjacent to squamous cell carcinoma provides additional arguments for a mucous cell origin of preneoplastic squamous lesions. MUC5AC and MUC5B expression is related to mucus formation in adenocarcinomas. Mucinous bronchioloalveolar carcinoma (BAC) has a particular pattern of mucin gene expression indicating that it has sustained a well-differentiated phenotype similar to the goblet cell, correlated with distinctive features i.e. a noninvasive pattern and a better prognosis than nonBACs. MUC4 is the earlier mucin gene expressed in the foregut, before epithelial differentiation and is expressed independently of mucus secretion both in normal adult airways and carcinomas. These findings are in favor the histogenetic theory of non-small-cell carcinoma originating from a pluripotent mucous cell.

Gene Expression Regulation↗
PubMed2001

[An ischemic pulmonary malformation of the surviving fetus occurring after selective embryo reduction in bichorionic pregnancy. Report of one case and literature review].

We describe, to our knowledge, the first case of a pulmonary malformation called acinar dysplasia occurring at a surviving fetus after selective embryo reduction in a bichorionic pregnancy. The chronological and histological observations suggest that this anomaly may be linked with a feticide achieved at 13 week's gestation. Literature review concerning selective embryo reduction shows rare cases of vascular connections in bichorionic pregnancies especially during the first half of gestation, that can explain in part the apparition of survivor's anomalies.

Adult↗
PubMed2000

From normal respiratory mucosa to epidermoid carcinoma: expression of human mucin genes.

Mucous cells in the respiratory tract contribute to the maintenance of the normal epithelial cell population via mechanisms of cell proliferation and differentiation. Mucous cell hyperplasia often occurs as a basic response to injury in the tracheobronchial epithelium. These cells are also thought to be involved in the histogenesis of epidermoid metaplasia. A typical biochemical feature of these cells is mucus secretion. Aberrant glycosylation or under-glycosylation of mucins is well known in cancer; however, the specific role played by mucin genes is at present unclear. To provide information regarding the expression of these genes in squamous metaplasia and squamous cell carcinoma, we analyzed and compared the expression of MUC1-MUC7 genes by in situ hybridization in control respiratory mucosa and lesions associated with neoplasia (hyperplasia, metaplasia and dysplasia) and squamous cell carcinomas. MUC4 was expressed independently of mucus secretion since it was expressed weakly by basal cells and probably by ciliated cells as well as collecting ducts, epidermoid metaplasia with complete squamous cell differentiation, and most of epidermoid carcinomas even well differentiated and keratinized. In squamous metaplasia and dysplasia, MUC4 gene expression was diffuse and less intense than in normal epithelium. MUC5AC was overexpressed in dysplasia as well as in mucous cell and basal cell hyperplasia and undetectable when squamous differentiation was achieved.

Biomarkers, Tumor↗
PubMed2000

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.

Abnormalities, Multiple↗