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Biomedical subjects

R Gilly

Publications and source records attributed to R Gilly.

At least 19 recordsLinked to original sources
PubMed1994

Mutation analysis in 600 French cystic fibrosis patients.

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X (3.3%), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184delA + 2183 A-->G (0.9%), and R553X (0.8%).

Alleles↗
PubMed1992

MRI in Sturge-Weber syndrome.

Five children (3 girls, 2 boys, aged from 1 to 18 years) presenting with Sturge-Weber syndrome were explored by MRI with contrast injection in 2 cases. The respective positions of CT and MRI are discussed: CT is the method of choice to display leptomeningeal calcifications. MRI seems to be more accurate than CT to determine the location of the lesions and to demonstrate the enhancement of the angioma after contrast injection.

Adolescent↗
PubMed1991

[Aberrant left pulmonary artery and tracheal abnormality].

A case of left pulmonary artery sling and tracheobronchial tree malformation is reported in a 3 month-old infant. Acute respiratory presenting symptoms required mechanical ventilatory support. The malformation was suspected because of ventilatory support difficulties. Barium oesophagogram showed an anterior indentation, fiberoptic bronchoscopy and tracheobronchography showed a severe tracheal stenosis from a right bronchus lobaris superior to the carina. This was worsened by the right side compression of trachea end part, due to the abnormal left pulmonary artery as demonstrated by pulmonary angiography. A surgical left artery transposition relieved lateral compression and allowed weaning of ventilatory support. After a 27 month-follow-up, the girl's respiratory status is satisfactory.

Female↗
PubMed1990

[Cystic fibrosis: choices of treatment of respiratory manifestations (except Pseudomonas aeruginosa infections)].

A knowledge of the natural history of cystic fibrosis is the basis for a treatment which, so far, has only been symptomatic. The three fundamental elements of our therapeutic possibilities are: prevention and treatment of bronchial obstruction, administration of antibiotics active against staphylococci and Haemophilus influenza (Pseudomonas aeruginosa infections will be dealt with in another article of this journal), and control of bronchial inflammatory processes. Some complications of cystic fibrosis regarded as serious are no longer beyond our resources. Many works of fundamental research are needed, concerning the local conditions that are necessary to the selective implantation and the development of Staphylococcus aureus in the lung, and the virus Staphylococcus and Staphylococcus-Pseudomonas relations. The real hope of an absolute treatment justifies the new, aggressive therapeutic approach but the precise indications of an antistaphylococcal treatment must still be evaluated carefully. Finally, the complexity of a treatment which must constantly be adjusted is one of the reasons for the existence of "specialized consultations", the organization of which is summarized.

Airway Obstruction↗
PubMed1990

[Antibiotic therapy in cystic fibrosis: uncertainty and reality].

Antibiotics inspite of certain contradictions remain an important part of the treatment of mucoviscidosis (MCV). Despite this the current practice of their extensive use does not always rest on firmly placed criteria. Before colonisation with pseudomonas (PA), the systemic prophylaxis of infection by Staphylococcus (SA), or Hemophilus (HI) is debatable. At the time of exacerbations, even if this may be caused by a virus, the prescription of antibiotics (ATB) active against SA and HI should often be continued for 2 or 3 weeks to maintain a durable clinical benefit. While awaiting the results of complimentary multi-centre trials at present underway it remains uncertain whether eradication of the germ at all costs remains indispensable. Systemic anti-PA antibiotic therapy given quarterly from the time of the implantation of the germ has not yet proved to have definitive advantages when compared to the treatment of exacerbations. An appreciation of the benefit of therapy should take count not only of survival curves but also of the quality of life. The indications for treatment should not neglect the possibility of therapeutic progress, sometimes unexpected. Intensive therapy may be justifiable in certain cases awaiting a lung transplant. ATB is only one part of treatment aimed strictly at the broncho-pulmonary system. Drainage and account of infectious agents other than classical bacterial infections or pathogenic mechanisms other than infections (nutritional problems, bronchial hyper-reactivity, immunological phenomenon, or primary or secondary inflammatory changes) should not be ignored.

Anti-Bacterial Agents↗
PubMed1990

[Pregnancy and cystic fibrosis. A case history].

The authors report a case of pregnancy in a patient suffering from moderately severe cystic fibrosis (the syndrome consisted of diffused obstruction in respiratory function with a vital capacity of 79% and the lowered blood oxygen level with arterial blood gas estimations; oxygen saturation was 94%). The condition was marked by temporary worsening during the pregnancy in which infective bronchitis supervened). She also threatened to go into early labour and did in fact deliver at 36 1/2 weeks of an infant which was normal for the duration of the maturity. The authors review previous known facts about cystic fibrosis. A study of the literature has made it possible to be more accurate in describing methods of ante natal diagnosis of the condition and ways of following the pregnancy and the illness as well as the woman's fertility and her ability to breast feed.

Cystic Fibrosis↗
PubMed1989

[Pressure profile during exertion in subjects aged 70 years and older].

One hundred and fifty-four patients from 70 to 85 years old (mean 74.5 +/- 4.5 years), including 105 men and 49 women, underwent a bicycle exercise test, in the upright position, with 3 minutes triangular levels (levels of 20 watts or more often 30 watts). Blood pressure (BP) was measured at rest and at the end of each level, using the auscultatory method and a mercury manometer. These 154 patients were divided in 59 "healthy" old people, 21 patients suffering from coronary insufficiency but with normal BP, 12 hypertensive patients and 62 patients receiving antihypertensive therapy. The results showed, as in younger people, a linear relation between BP and heart rate (HR). The slope of BP reported to HR determined the exercise BP of each subject. The mean value of "healthy" old people defined the normal exercise BP of people over 70 years old. Slope of systolic blood pressure (SBP) was higher in men than in women, but declined in both sexes in people over 80 years old. Slope of SBP was lower in the case of coronary insufficiency. In hypertensive patients, slope of SBP was the same as in normotensive patients, but was shifted upward. Finally mean exercise BP was lower in patients receiving antihypertensive therapy, compared to non-treaded patients with equal rest BP. The knowledge of exercise BP is useful for the right interpretation of exercise testing in old people suffering from coronary insufficiency or hypertension, as well as in presumed healthy old people.

Aged↗
PubMed1989

[Immunohistochemical absence of adrenergic neurons in the dorsal part of the solitary tract nucleus in sudden infant death].

The immunohistochemical distribution of TH and PNMT containing neuronal elements was investigated utilizing peroxidase anti-peroxidase methods in newborn control and sudden infant death syndrome (SIDS) brainstems. The TH immunoreactive neurons, within the medulla oblongata, displayed a similar distribution in both control and SIDS tissue. However, PNMT immunoreactive neurons seen in the dorsal part of the nucleus of tractus solitarius in control tissue were not observed in SIDS tissue. This alteration of adrenergic neurons in the dorsal part of NTS (region reported to be implicated in the control of blood pressure and respiration) could explain the cardiorespiratory disorders in SIDS.

Epinephrine↗
PubMed1988

[Mucoviscidosis: what is the cause of bronchitis?].

To this day, there is no explanation as to why chronic airway obstruction develops in cystic fibrosis (CF). Even if the mucous secretions are considered abnormal, these abnormalities resemble those observed in patients without CF. There is no primary alteration of the ciliated cells and the presence of a CF ciliary inhibitory factor has not yet been established. However, the electrolyte (chloride and sodium) transport abnormalities in airway epithelia can induce a dehydration of bronchial secretions and a slowdown of mucociliary transport in peripheral airways. But this does not explain the specific lung infection and the role of Pseudomonas aeruginosa. No specific biochemical or structural abnormality of the CF-specific bronchial secretions and/or cell membranes has yet been identified. The question therefore remains open: are we dealing with a deficient respiratory tract immunity? The CF coding gene has been localized: could the discovery of a "basic defect", a direct expression of the abnormal gene, explain the electrolyte transport abnormalities, the specific lung infection and other CF manifestations?

Acute Disease↗
PubMed1988

[Mucoviscidosis: a genetic disease of adulthood].

Mucoviscidosis (cystic fibrosis of the pancreas) is the most frequent lethal genetic disorder in the white race. It is an autosomal recessive transmission. In spite of its recent localisation on the 7th chromosome, the fundamental mechanism responsible for the symptoms remains unknown and it is still a syndrome more than a disease. It presents as a generalised seromucous exocrinopathy. The serous glands are functionally abnormal and have secretions too rich in chloride which allows for the sweat test (the only test of diagnostic value). The accumulation of abnormal mucous secretions is responsible for the clinical manifestations: intestinal troubles, bronchial and pulmonary disease, progressive pancreatic insufficiency and biliary cirrhosis. Mucoviscidosis is not longer a disease exclusively of children. The treatment which is solely symptomatic has profoundly changed the prognosis. Half of the children afflicted become adults. This fact and the better condition of diagnosis explain the appearance of a new symptomatology sometimes with a late presentation. On the basis of the genetic and prognostic implications one should consider the diagnosis at any age even if the general state is well conserved. The diagnosis rests on the association of suggestive symptoms and a disturbed sweat test. In the adult the presenting signs are always respiratory, more rarely digestive, and sometimes sterility. These associations are very suggestive. The current evolution requires a specific clinical management of new adult cases who, even if not in a very good clinical state, maintains a vital hope for several years with symptomatic treatment (and the hope perhaps that the discovery of the fundamental defect will lead to more specific therapy).

Adult↗
PubMed1987

Catecholamine synthesizing enzyme activity in brainstem areas from victims of sudden infant death syndrome.

In order to investigate whether central catecholaminergic neurons are altered in sudden infant death syndrome (SIDS), the activities of dopamine-beta-hydroxylase (DBH) and phenylethanolamine-N-methyltransferase (PNMT) were determined in nine brainstem areas from 19 victims of totally unexplained SIDS (tSIDS), 9 victims of partially unexplained SIDS (pSIDS) and 8 control infants. The distinction between tSIDS and pSIDS was made according to the results of the autopsy. They were totally negative for the tSIDS victims, while minor pathological alterations were found in pSIDS victims. In both tSIDS and pSIDS victims, the PNMT activity was significantly decreased in the medullary C2m and C21 areas and in the nucleus medullae oblongatae centralis. In the C21 area only DBH activity was decreased. Further, in the nucleus ambiguus PNMT activity was decreased in tSIDS, while DBH was lowered in pSIDS victims. No significant modifications were found in the areas from the dorso-lateral pons (locus coeruleus, Kolliker Fuse and parabrachialis nuclei). Thus, in the two groups of SIDS victims the capacity to synthesize adrenaline was decreased in some medullary areas. It is considered that these biochemical alterations are related to the abnormal central respiratory and arousal control, which is thought to be present in SIDS.

Brain Stem↗