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Biomedical subjects

M Roussey

Publications and source records attributed to M Roussey.

At least 37 records · Page 2Linked to original sources
PubMed2000

[Adult care centers for patients with cystic fibrosis: prerequisites and practical organization. Cystic Fibrosis Care Centers of Rennes and Lille].

In the past 40 years there has been an increase in the median age of survival of patients with cystic fibrosis (CF), attributed to advances in the diagnosis and treatment of patients with this disease. This progress was also due to the level of care provided by pediatricians and now by adult physicians in CF care centers. They centralize and integrate knowledge and skills of pulmonary medicine, gastroenterology, nutrition, nursing, respiratory therapy, social work, and genetics to provide specialized care to patients with CF from childhood to adulthood. They are also expected to develop teaching and research, particularly the development of new life-extending therapies. The continuity of care of this multisystemic disease is best carried out through a close collaboration between the patient's primary care physician or pulmonologist and the specialized staff of the CF care center.

Adult↗
PubMed1999

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.

AIM: To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease. METHODS: PAP was assayed on screening cards from 202,807 neonates. Babies with PAP > or = 15 ng/ml, or > or = 11.5 ng/ml and immunoreactive trypsinogen (IRT) > or = 700 ng/ml were recalled for clinical examination, sweat testing, and cystic fibrosis transmembrane regulator (CFTR) gene analysis. RESULTS: Median PAP value was 2.8 ng/ml. Forty four cases of cystic fibrosis were recorded. Recalled neonates (n = 398) included only 11 carriers. A receiver operating characteristic curve analysis showed that PAP above 8.0 ng/ml would select 0.76% of babies, including all those with cystic fibrosis, except for one with meconium ileus and two with mild CFTR mutations. Screening 27,146 babies with both PAP and IRT showed that only 0.12% had PAP > 8.0 ng/ml and IRT > 700 ng/ml, including all cases of cystic fibrosis. CONCLUSION: PAP is increased in most neonates with cystic fibrosis and could be used for CF screening. Its combination with IRT looks promising.

Acute-Phase Proteins↗
PubMed1998

Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?

Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The gene responsible for the disease (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes a protein homologous to class I MHC molecules. A main mutation, C282Y, has been identified within the gene. Although hemochromatosis is considered as the most frequent inherited disease in the populations of Northern European origin, its prevalence in Brittany had not been evaluated yet. In this issue we report the C282Y mutation frequency in a cohort of 1000 newborns from maternity hospitals of the four breton départements. The homozygote frequency was 5/1000 and heterozygote frequency was 12%; such high frequencies raise the question of the penetrance of the disease and the relevance of systematic genotypic screening for hemochromatosis.

Alleles↗
PubMed1997

Revisited physicochemical and transport properties of respiratory mucus in genotyped cystic fibrosis patients.

We investigated the physicochemical and transport properties of sputum samples collected in physiotherapy from a well-documented group of 27 cystic fibrosis (CF) patients with identified CF genotypes. Sputum samples were characterized ex vivo for their water content, surface properties (surface tension and contact angle), rheologic properties (viscosity and elastic modulus), and transport properties (mucociliary and cough transport). These data were analyzed in relation to the clinical status of the patients (FEV1, FVC, Shwachman score, Brasfield score, nutritional status), their genotype, and the degree of infection of their sputa (leukocyte and Pseudomonas aeruginosa counts). We observed negative and significant correlations between mucociliary transport and elastic modulus of the patients' sputum (r = -0.63, p < 0.01), and between the cough transport and contact angle of the sputum (r = -0.81, p < 0.0001), respectively. The P. aeruginosa count was also significantly correlated with the sputum water content (r = -0.53, p < 0.02) as well as with the cough transport of the sputum (r = -0.62, p < 0.01). In CF patients with a sputum leukocyte count > 2,000/mm3, the sputum water content (p < 0.02), FEV1 (p < 0.05) and FVC (p < 0.02) were significantly lower than those of CF patients with a leukocyte count < or = 2,000/mm3. CF patients with a homozygous delta F 508 genotype had significantly greater values of sputum water content (p < 0.05), and cough-transport capacity (p < 0.05) than did heterozygous patients. No correlation was observed between the sputum properties and any of the clinical data. These results suggest that the control of infection should be emphasized in CF, since it can directly or indirectly modulate the degree of hydration, and therefore the physicochemical and transport properties, of airway secretions.

Adolescent↗
PubMed1996

[Contribution of post mortem skull scanning for the study of sudden infant death].

BACKGROUND: Despite post-mortem examination and autopsy, many cases of sudden infant death (SID) remain unexplained. The aim of this study was to assess usefulness of CT-scan in the Sudden Infant Death Syndrome (SIDS). POPULATION: Twenty-three cases of SIDS had a post-mortem CT-scan evaluation of skull and brain. The pictures were retrospectively reviewed by several independent radiologists who were unaware of the circumstances of death and results of autopsy. RESULTS: Aspects of pneumatocele, probably due to lumbar puncture were found in 6 cases. The subarachnoid spaces appeared inexplically hyperdense, as they were not correlated to the results of lumbar puncture and autopsy. The ventricles were normal in size or density. Density of the dural sinuses (superfical and deep) was often increased, an aspect possibly artefactual, due to post-mortem thrombosis. The cerebral parenchyma was often slighty hypodense; microcalcifications due to congenital toxoplasmosis were found in one case. CONCLUSION: There was no correlation between the CT-scan imaging and the delay of death and lumbar puncture. Infants with or without subarachnoid hemorrage had the same CT scan findings. The CT-scan has a poor value when autopsy is performed; in its absence, it could be useful for diagnosing post-traumatic intracerebral hematoma.

Autopsy↗
PubMed1996

[Glomerular nephropathy with IgA mesangium deposits and Crohn disease].

BACKGROUND: Renal disease is an unfrequent extraintestinal manifestation of chronic inflammatory bowel disease. CASE REPORT: A 12-year-old girl suffered from recurrent abdominal pain, diarrhea and growth impairment due to Crohn's disease of ileocaecal region. After six months of nutritional rehabilitation, an ileo-caecal resection was performed because of intestinal stenosis. The surgical procedure was followed by parietal abcess and cutaneous fistula. One year later, a purulent secretion came out of the fistula associated with fever, hematuria and acute renal failure. Renal biopsy confirmed IgA nephropathy. The course was favorable under parenteral nutrition and after surgical closure of the sigmoido-cutaneous fistula. The microscopic hematuria only persisted but the nephropathy did not relapse even during a further digestive exacerbation. CONCLUSION: IgA nephropathy has been reported in association with chronic inflammatory bowel disease. Its mechanism remains unclear: increased mucosal IgA production in inflammatory bowel, increased serum IgA and/or immune complex deposition in the renal mesangium appear the most relevant hypotheses.

Acute Kidney Injury↗
PubMed1995

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.

We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born in the western part of Britanny. The first tier, involving IRT screening at 3 days of age, utilizes a low elevation of the trypsinogen level (600 ng/ml), which is highly sensitive. The second tier, which corresponds to the exhaustive screening for mutations in three exons of the gene, is highly specific for this population (Britanny). The false positive rate is very low, and no false negatives have been reported to date. This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S).

Base Sequence↗
PubMed1995

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

Two groups of infertile men with obstructive azoospermia were screened for cystic fibrosis (CF) gene mutations (delta F508, exons 3, 4, 7, 10, 11, 14a, 17b, 19, 20, 21). The first group was composed of 26 patients with congenital agenesis of vas deferens (CAVD). The second group was composed of 12 patients with obstructive azoospermia associated with chronic suppurating respiratory disease (Young's syndrome). Of the group with CAVD, 77% of patients showed at least one mutation in the CF transmembrane conductance regulator (CFTR) gene. The delta F508 mutation occurred most frequently (54%), and the second most frequent mutation to occur was R117H (27%). Six patients were double heterozygotes. In Young's syndrome, no CF mutations were detected. CAVD can be considered as an incomplete clinical form of CF. However, the differences observed in CF mutations between CF and CAVD suggest that they are different disorders resulting from mutations in the same gene. Young's syndrome is a very different clinical entity.

Adult↗
PubMed1995

Dose-dependent in vitro effect of recombinant human DNase on rheological and transport properties of cystic fibrosis respiratory mucus.

Recombinant human deoxyribonuclease (rhDNase) has been demonstrated to reduce the viscosity of purulent cystic fibrosis (CF) respiratory mucus, to improve pulmonary function and to reduce the risk of respiratory tract infectious exacerbations, but its effect on mucus transportability has not so far been investigated. The dose-dependent effect of rhDNase was analysed in vitro on mucus transport rate (tr) by ciliary activity and by simulated cough (cough transport (ct)), as well as on mucus viscosity and surface properties. Purulent CF sputa (n = 15) were incubated for 30 min at 37 degrees C with either rhDNase at three different concentrations (final concentrations 0.2, 2 or 20 micrograms.ml-1 of mucus) or placebo. No significant dose-dependent effect of rhDNase on the mucociliary transport rate was observed when the samples wer statistically analysed together. However, in the larger group of mucus samples (n = 11) with a low initial mucociliary transport rate, the latter was improved at each rhDNase concentration (tr0.2 = 0.69, tr2 = 0.88 and tr20 = 0.87) as compared to placebo (trp = 0.58). In the smaller group of mucus samples (n = 4) with high initial transport rate, a decrease in mucociliary transport rate was observed, particularly at the highest concentration rhDNase assayed, i.e. 20 micrograms.ml-1 of mucus (tr20 = 0.58) as compared to placebo (trp = 0.86). The mucus cough transport was increased by rhDNase (ct0.2 = 25 mm, ct2 = 27.5 mm and ct20 = 31 mm) as compared to placebo (ctp = 23.5 mm).(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Inhalation↗
PubMed1994

[Reflections on 10 years of medically induced abortions in Ille-et-Vilaine].

The medical files of 532 patients who underwent medically induced abortion over a 10-year period (1982-1991) in the French department of Ille-et-Vilaine were studied in order to evaluate the indications and outcomes. Among the patients, 358 resided in the department (67%). Comparatively with the number of births during the 10-year period, there was a relative increase in the number of medically induced abortions from 3.5/1000 to 5.5/1000. This parameter was taken into consideration for the interpretation of a parallel decrease in the perinatal mortality during the same period, from 5.9/1000 to 5.1/1000. There was a maternal indication in 91 cases which correspond to the former category of therapeutic induced abortions. There was a clear increase in 1991 corresponding to abortions induced because of extremely premature rupture of the membranes which were formerly allowed to continue to dead births. Foetal indications were frequent: 441 cases (83%). Exogenous causes were lower (15.6%), particularly due to the disappearance of indications resulting from maternal irradiation. For indications related to infection, the vaccination against rubella and improved prenatal diagnosis resulted in the disappearance of rubella as an indication during the last three years of the study and a clear decrease in the number of toxoplasmosis indications. There were few indications due to maternal infection by human immunodeficiency virus (4 cases). Chromosomal abnormalities were the main cause of medically induced abortion among the foetal indications (27.7%).(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Induced↗
PubMed1993

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

The cystic fibrosis (CF) gene has been cloned and a major mutation identified (delta F508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator gene. A new mutation, F1286-S, was found in exon 20. It involves a nucleotide change of T-->C at nucleotide 3989 and changes a phenylalanine into serine at position 1286 of the protein.

Adolescent↗
PubMed1993

[Comparative study of results of pH-metry in function of its indication in infants].

A 24 hour pH-metry was performed in children younger than 3 months divided in 4 groups: group 1: 37 infants who presented an apparent life-threatening event (ALTE), group 2: 45 infants with an ALTE and chronic digestive symptoms (recurrent vomiting), group 3: 33 infants with digestive symptoms only, group 4: 32 sudden infant death syndrome (SIDS) siblings. The percent duration of oesophageal pH below 4 (% pH < 4) was measured during 24 hours and 12 nocturnal hours (8 PM-8 AM). In addition the mean duration of nocturnal episodes of reflux (MDNR) was calculated (duration of pH < 4 per 12 nocturnal hours/number of reflux episodes). No significant difference was found in the 4 groups for % pH < 4. Nocturnal reflux was present in all groups (40% in group 1, 55% in group 2, 49% in group 3 and 63% in group 4). The MDNR was higher in group 1 (12.3 +/- 7.8 min) vs group 2 (6.8 +/- 5.1 min) and group 3 (6.7 +/- 3.2 min) (P < 0.05). High MDNR did not appear to be related to an history of ALTE since the MDNR in group 2 was identical to group 3. Nocturnal pH metry profile failed to show a relationship between gastro-oesophageal reflux and ALTE.

Circadian Rhythm↗
PubMed1993

[Epidemiological study of noted children under 6 years of age in danger in medicosocial services in a French department (Ille et Vilaine)].

An epidemiological study was conducted during 1 year (1989) in a French department (Ille et Vilaine) on children under 6 years of age reported by local medico-social services as being at risk of child abuse or neglect. This involved 786 children, ie an incidence of 1/80 children under 6. Among these children, 282 (35.9%) presented with clinical signs possibly related to abuse; only nine were hospitalized after being reported, showing the limits of the hospital to detect child abuse or neglect. The psycho-social characteristics of the families, the sources and motives of the reports, the criteria used to assess the risks run by the children, the care and protection measures were investigated through multifactor statistical analysis. Alcoholism, violence and parental immaturity were the most worrying factors. Social workers were at the origin of most reports and referrals (78%); most often they were alerted by socio-economic problems and parental immaturity. Physicians were in a better position to signal physical abuse, but they overlooked the situations of neglect. These were 388 children referred to the judiciary; 91 were removed from their families. Removal was ordered by courts in the presence of alcoholism, familial violence, disabled parents, offence records, insanitary housing, physical abuse or neglect, repeated hospitalizations. The perception of the risks was found to be a subjective notion depending upon the assessor's experience and tolerance thresholds, but also the quality of the professionals training and the organization of the services.

Child Abuse↗
PubMed1993

[Congenital intrahepatic arterio-portal fistula: diagnostic and therapeutic aspects].

The authors report the case of a 4 month old child presenting with a congenital arteriovenous fistula of the left hepatic lobe, revealed by a melaena. Doppler ultrasonography and angiography showed a voluminous vascular malformation fed by a left hepatic artery and fistulized in the portal vein. The therapeutical approach was first palliative, by ligature of the left hepatic artery which proved unsuccessful and resulted in re-permeation of the malformation through a right hepatic artery. Two embolization procedures were then attempted, without success. A left hepatectomy was then performed to remove the malformation. The main event of outcome was the secondary occurrence of a portal cavernoma, with persistent splenic segmentary portal hypertension, and oesophageal varicosity. This case report is the occasion for a literature review on congenital arteriovenous fistulae in the portal region, and for a discussion on therapeutical modalities.

Arteriovenous Fistula↗
PubMed1993

[Epidemiology of neuroblastoma in Brittany over a 10-year period (1980-1989)].

We report the results of a retrospective epidemiologic study on neuroblastoma in Brittany, a region of France characterized by an homogeneous sedentary population living on a granitic ground. During a period of 10 years (1980-1989), 48 cases of neuroblastoma were observed, which gives an incidence of 7.92 cases per million of children under 15 years. There were 25 boys and 23 girls and 20 infants under 1 year (41%). The localisation was abdominal in 39 cases (81%). Among the 28 children older than 1 year, 25 (89%) had stage III and stage IV neuroblastomas, half of them with metastases. We conclude that the incidence and the clinical presentation of neuroblastoma in Brittany are similar to those reported in other countries.

Child↗