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Biomedical subjects

D Carles

Publications and source records attributed to D Carles.

At least 19 recordsLinked to original sources
PubMed2006

[Perinatal prognosis of pregnancies complicated by placental chronic intervillitis].

UNLABELLED: SUBJECT. Massive Chronic Intervillositis is an infrequent inflammation lesion of the placenta, characterized by lymphohistiocytic intervillous infiltration, associated with fibrinoid deposition. The purpose of this study was to evaluate the perinatal outcome of pregnancies complicated by such lesions. MATERIAL AND METHODS: We conducted a descriptive retrospective multicentric analysis of a series of pregnancies for which placenta or products of abortion were analyzed between January 1995 and September 2005, at the University Hospital of Bordeaux. After re-examining the histology slides, we performed a semi-quantitative graduation of the cell infiltration and fibrinoid deposition. RESULTS: Twenty-five women were included (one twin-pregnancy and two histologic recurrences). We found three spontaneous abortions before 22 weeks, four intrauterine fetal deaths and three neonatals deaths. Seven of eight elective inductions pregnancies, were performed for intrauterine growth restriction less than 2.5 percentile. The rate of pregnancy loss was 55% and the perinatal mortality was 29%. 77% of fetuses are small for gestational age. Three mothers were pre-eclamptic. 21% of the fetuses had a congenital malformation. Only 32% of the fetuses were alive one week after birth. Histologically, 25% were associated with lesions of Villitis of Unknown Etiology. 77% of the cell infiltration was grade 3 and seemed to be correlated with severe growth restriction. We describe 3 cases of antenatal diagnosis of Chronic Intervillositis, realised after immunofixation on chorionic villous sampling. CONCLUSION: Massive Chronic Intervillositis is a recurrent lesion with a poor prognosis complicated by spontaneous abortion, intrauterine growth restriction and perinatal fetal death. Currently, there is no treatment. Chorionic villous sampling in severe growth restriction might be useful in order to obtain at the same time the fetal karyotype and an histological probe of the placenta.

Adult↗
PubMed2005

[DiGeorge syndrome, a review of 52 patients].

UNLABELLED: The deletion of chromosome 22q11.2 is involved in the majority of DiGeorge or velo-cardiofacial syndrome. The phenotypic variability was noted in the "CATCH 22" acronym. This acronym doesn't recapitulate the full spectrum of the symptoms. The diagnosis of this syndrome can be done with the prenatal diagnosis, with fetal pathology or with a child alive. METHODS: Review of 52 cases with the microdeletion 22q11. Six cases were diagnosed during the prenatal period, 12 cases at fetal pathology examination, and 34 cases during infancy. RESULTS: Cardiac malformations were the major indications (75%) to search for the microdeletion. The facial dysmorphy was difficult to diagnose during the antenatal period or in dead foetus, thereby it was not often recognized. The renal anomalies usually present in 35% of cases, were diagnosed in only 6 to 16% of the cases in our study. CONCLUSION: Phenotypic diversity of the DiGeorge syndrome is important. Its knowledge allows to better determine the indications of the research of the microdeletion. 22q11.2.

Child↗
PubMed2004

Differential expression of the nm23 genes in the developing human trophoblast.

NDP kinases are the non-specific enzymes which catalyse the synthesis of the NTPs through a transfer reaction using ATP as phosphoryl donor. In addition to their enzymatic activity, they display other not yet explained functions related to cell growth, differentiation and apoptosis, embryonic development, tumour progression and metastasis. In this study, the expression patterns of the three highly related NDP kinases A, B and C isoforms were investigated in the developing human trophoblast. Both NDP kinase A and B were found to be primarily present in the villous and extravillous cytotrophoblasts, while NDP kinase C was found almost exclusively in the syncytiotrophoblast layer. This suggests that NDP kinase A and B could be a marker for the mononuclear stage of differentiation of villous trophoblasts, while NDP kinase C could be a marker of the syncytiotrophoblast layer.

Embryonic and Fetal Development↗
PubMed2004

Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.

This manuscript reports a fetus of 24 weeks gestation, detected on echography to have congenital anomalies: intra-uterine growth retardation, facial dysmorphism, ventricular septal defect with aortic displacement and 8-mm nuchal skinfold thickness. Karyotype was performed. Post termination of pregnancy autopsy showed additionnal internal organ anomalies included: absent gall bladder and thyroid isthmus agenesis. To our knowledge, these anomalies have never been described in trisomic 22 fetuses. This case suggests that chromosome 22 could play a role in thyroid development.

Centromere↗
PubMed2002

[Iniencephaly: four cases and a review of the literature].

Iniencephaly is a rare malformation of the base of the skull. The brain is involved and prognosis is almost invariably lethal. We identified 202 reports in the literature up through 2000. Ultrasound morphology explorations now provide the diagnosis making it possible to propose pregnancy termination. We report four cases of iniencephaly diagnosed between 1992 and 1999.

Abnormalities, Multiple↗
PubMed2001

Ventricular patch endocarditis caused by Propionibacterium acnes: advantages of gallium scanning.

Propionibacterium acnes is a weakly pathogenic commensal of the skin. When isolated from blood cultures it is often considered a contaminant. However, P. acnes may be responsible for severe infections and its role in certain cases of infectious endocarditis has now been definitely established.(1) We report a case of endocarditis due to P. acnes stemming from a ventricular patch and revealed by a gallium 67 scan.

Endocarditis, Bacterial↗
PubMed2000

Outbreak of typhoid fever on the French Riviera.

A case-control study was conducted to establish the source of a community outbreak of typhoid fever in Utelle, France, a village located in the Alpes-Maritimes district of the French Riviera. Thirteen confirmed cases of typhoid fever and 41 confirmed community controls were included in the study. Cases and controls did not differ regarding ingestion of water. Multivariate logistic regression analysis identified consumption of pork meats during a village festival as the only statistically significant risk factor for typhoid fever after adjusting for age and sex (odds ratio, 76.0; 95% confidence interval, 3.5-1660). Assessment of food-handling procedures at the inn where the food had been prepared showed that the refrigeration and cooking facilities were inadequate to maintain a proper sanitary environment during the preparation of a meal for 350 people. Although the exact cause of the epidemic could not be confirmed, food contaminated by a chronic typhi carrier is the most plausible hypothesis.

Animals↗
PubMed2000

Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis.

We found a new C-terminal amyloidogenic variant of apolipoprotein AI (apoAI), Leu178His in a French kindred, associated with cardiac and larynx amyloidosis and skin lesions with onset during the fourth decade. This single-point mutation in exon 4 of the apoAI gene was detected by DNA sequencing of polymerase chain reaction amplified material and restriction fragment length polymorphism analysis in two siblings. Blood, larynx, and skin biopsies were available from one sibling. Anti-apoAI immunoblotting of isoelectric focusing of plasma showed a +1 alteration in the charge of the protein. Extraction of fibrils from the skin biopsy revealed both full-length and N-terminal fragments of apoAI and transthyretin (TTR). ApoAI and TTR co-localized in amyloid deposits as demonstrated by immunohistochemistry. The present report, together with the first recently described C-terminal amyloidogenic variant of apoAI, Arg173Pro, shows that amyloidogenicity of apoAI is not a feature exclusive to N-terminal variants. The most striking characteristic of amyloid fibrils in Leu178His is that wild-type TTR is co-localized with apoAI in the fibrils. We have previously determined that a fraction of plasma TTR circulates in plasma bound to high-density lipoprotein and that this interaction occurs through binding to apoAI. Therefore we hypothesize that nonmutated TTR might influence deposition of apoAI as amyloid.

Adult↗
PubMed1999

Splenogonadal fusion limb defect syndrome: report of five new cases and review.

Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD) syndrome. In this article, we report on 5 new cases of SGFLD and we review the 25 cases reported since 1889. Most cases reviewed here have a combination of severe limb and oro-mandibular defects, suggesting that SGFLD may be related to the broader group of Hanhart complex. In addition, several cases have limb malformations and facial anomalies, which suggest that SGFLD overlaps with both femur-fibula-ulna dysostosis and femoral-facial syndrome. The hypothesis of a vascular disruptive event, occurring between the 5th and the 7th weeks of gestation, could explain the limb defects, the mandibular hypoplasia, and the fusion of the spleen to the gonad observed in SGFLD. However, this heterogenous and polytopic condition could also be the consequence of a primary field defect. All the cases to date reported have been sporadic and the recurrence risk is probably low. However, a recent case of Roberts syndrome with SGF was reported that suggests careful examination of chromosomal status.

Abnormalities, Multiple↗
PubMed1999

[Detection of respiratory syncytial virus using immunohistochemistry. Report of 53 cases of sudden infant death].

We analyzed 53 cases of sudden infant death to detect immunohistochemical expression of respiratory syncytial virus on pulmonary sections. The virus was identified in 7 cases. The immunohistochemical staining was intracytoplasmic and mainly observed in bronchioles. Among these 7 cases, 6 showed severe pulmonary lesions which were assumed to be accountable for decrease. The inflammatory lesions related to respiratory syncytial virus were diffuse, located with the same intensity to either bronchi, bronchioles, alveoles and upper respiratory tract. The immunohistochemical staining was markedly heterogeneous, requiring numerous pulmonary samples.

Female↗
PubMed1999

[Uvular edema. Diagnostic, etiologic and therapeutic management].

Acute oedema of the uvula is relatively rare, and often idiopathic. None the less, possible causes should be excluded, such as allergy, infection, trauma or mechanical. Hereditary angioneurotic oedema should be excluded when there are identical recurrent episodes. Although three of our patients had a recent herpetic viral infection, it does not seem likely that this was the cause. Treatment consists mainly or antihistamines, steroids, antibiotics, or specific treatment for hereditary angioneurotic oedema. The clinician must always bear in mind the potential seriousness or this condition as a cause of obstruction of the upper airway. In the light of four recent cases, the authors discuss the diagnosis, cause and treatment of this particular condition.

Acute Disease↗
PubMed1998

Expression of NGF receptors in normal and pathological human thymus.

The expression of NGF receptors was investigated in normal human thymus and in thymic hyperplasias, thymomas and thymic carcinomas. By RT-PCR, we detected TrkAI transcripts encoding for the high-affinity NGF receptor. Western blot analysis showed the presence of both TrkA and p75NGFR proteins. In normal thymuses, epithelial subcapsular and medullar cells were TrkA immunoreactive. Interdigitated medullar cells were stained for both TrkA and p75NGFR. While epithelial cells of normal thymuses or benign thymomas exhibited a TrkA positive-p75NGFR negative phenotype, a switch to a TrkA negative-p75NGFR positive phenotype was observed in malignant epithelial cell tumours and was associated with cell proliferation-associated MIB1 expression. Our results argue for a local role of NGF and its receptors on thymic stromal cells both in normal and neoplastic conditions.

Adolescent↗
PubMed1998

Laryngomucocele as an unusual late complication of subtotal laryngectomy. Case report.

We report an unusual case of laryngomucocele occurring after subtotal laryngectomy. Laryngoceles generally have a congenital origin in a long-preexisting saccule, and their association with laryngeal carcinoma is well known. Laryngocele is usually favored by the increase of intraglottic pressure caused by the laryngeal carcinoma. However, an iatrogenic secondary laryngomucocele occurring after a surgical procedure is uncommon. We report in detail the physiopathologic conditions leading to the creation of this lesion.

Aged↗
PubMed1998

[Otolaryngological manifestations of sarcoidosis. Report of 10 cases and review of the literature].

Sarcoidosis is a systemic chronic granulomatous condition of unknown aetiology. Although the mediastino-pulmonary type is the commonest, the condition may affect the head and neck in a significant number of cases, obliging the practising ENT surgeon to be familiar with the condition. The diagnosis is made by a combination of clinical, biochemical, radiological and histopathological features. We present 10 cases of sarcoidosis with exclusively cervico-facial features which have passed through the department between 1985 and 1996, including a typical nasal case with combined features, and a very rare pharyngeal case. The definitive diagnosis, always with histological confirmation, was sometimes made only after some delay, demonstrating the polymorphic nature of the clinical features, which are rarely pathognomonic. Special investigations, carried out virtually routinely once the diagnosis of ENT sarcoidosis was made, demonstrated only one case of associated pulmonary disease. Treatment was reserved for the symptomatic cases (4 out of 10), and consisted of systemic steroids whose dose and duration was determined by the clinical response.

Adult↗
PubMed1997

Molecular anatomy of the development of the human substantia nigra.

A series of 15 fetal and perinatal human brains (from week 12 of fetal life to day 2 after birth) was studied in order to describe the anatomical and molecular correlates of the substantia nigra ontogeny. In situ hybridization, immunohistochemistry and binding studies were used to detect D2 dopamine receptor (D2R) mRNA, D2R binding sites, dopamine membrane transporter (DAT) mRNA, tyrosine hydroxylase (TH) protein D1 dopamine receptor (D1R) protein and D1R binding sites. Dopaminergic (DA) neurons of the substantia nigra were detected through TH immunoreactivity from week 12. At week 16, the substantia nigra was clearly delineated as a compact group of intermingled neurons and fibers. From week 19, groups of DA neurons were segregated from the pars reticulata. These groups have been divided into the substantia nigra pars compacta, the ventral tegmental area and the retrorubral area. The DA neurons exhibited a gradual increase in size and branching development until birth. From week 12 onward they expressed several other markers of dopamine transmission, i.e., D2R mRNA, D2R binding sites and DAT mRNA. The ventral tegmental area expressed lower levels of mRNA for DAT and D2R than the pars compacta. From week 12, D1R immunoreactivity and D1R binding sites were also present in the substantia nigra pars reticulata. This suggests that projecting striatonigral neurons, known to express the D1R gene, have developed pathways connecting with the substantia nigra by week 12. Our results demonstrate that the developing substantia nigra in human displays early transcriptional and translational activity for the main constituents of dopaminergic transmission from week 12 and receives at this time dopaminoceptive inputs bearing D1 receptors from the striatum.

Biomarkers↗
PubMed1997

Horizontal glottectomy: functional and oncological results.

The authors report on their experience with 25 cases of horizontal glottectomy and discuss the functional and oncological results of this operation. Indications for this procedure are T1a and T1b glottic carcinomas. The overall three-year and five-year survival was respectively 94 and 88 per cent. Distant metastasis appears to be the major long-term failure, three patients dying of lung carcinoma. Short functional rehabilitation was observed in all cases. Decannulation was achieved in 100 per cent of the cases and none of our patients had laryngeal stenosis. The average time of removal of the nasogastric tube was 11.8 days. Because of its high local control and reduced functional after effects, horizontal glottectomy appears to be a reliable and safe procedure for limited glottic carcinomas and must be included in their therapeutic management.

Adult↗