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Biomedical subjects

A Barois

Publications and source records attributed to A Barois.

At least 19 recordsLinked to original sources
PubMed1991

[Familial mitochondrial encephalopathy. A clinicopathologic study].

We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions. The course was progressive and led to death within 8 years. The pathological findings included bilateral and almost symmetrical lesions involving the thalami, the colliculi, and the pontine and medullar tegmentum, similar to the changes described in Leigh disease. Neuronal loss and gliosis were noted in the dentate nucleus and in the inferior olive, as in MERRF syndrome. Laminar necrosis of the cerebral cortex could have been due to episodes of severe hypotension before death. Cytochrome c oxidase deficiency was found in case 2. The enzyme deficiency was present in muscle and in fibroblasts in culture.

Brain↗
PubMed1991

[Pathological anatomy of the heart in myopathies and infantile muscular atrophies].

In progressive muscular dystrophy, the heart is always affected and presents characteristic histological lesions: irregular, diffuse and intense rearrangements predominantly in the left ventricle, the septum and conductive tissue, consisting of wide, poorly vascularized fibrous bands, that are destructive but without an inflammatory aspect. The remaining myocardium is dystrophic with degeneration of the fibers (hyalin, atrophic or hypertrophic) with irregular nuclei. Plaques of adipose tissue are found under the epicardium within the heart wall. Sometimes, a fibrous thickening of the intracoronary arteries is observed without modification of the intima, but vascular lesions are not systematically seen. In congenital muscular dystrophy, cardiomyopathy certainly exists, but there is no histological description. Half of the patients suffering from myopathy with intracytoplasmic inclusions also have dystrophic and fibrotic cardiac involvement. Congenital myopathies may have their own specific cardiomyopathy, as in central core myopathy, nemaline (rod) myopathy and especially myotubular myopathy, where involvement is common. Werdnig-Hoffmann disease types I and II do not affect the heart. In contrast, several cases of fibrotic lesions have been described in KugelbergWelander disease.

Adolescent↗
PubMed1990

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann disease (type II) and Kugelberg-Welander disease (type III). These different clinical forms have previously been attributed to either genetic heterogeneity or variable expression of different mutations at the same locus. Research has been hindered because the underlying biochemical defect is unknown, and there are insufficient large pedigrees with the most common and severe form (type I) available for study. Therefore, we have undertaken a genetic linkage analysis of the chronic forms of the disease (types II and III) as an initial step towards the ultimate goal of characterizing the gene(s) responsible for all three types. We report here the assignment of the locus for the chronic forms to the long arm of chromosome 5 (5q12-q14), with the anonymous DNA marker D5S39, in 24 multiplex families of distinct ethnic origin. Furthermore, no evidence for genetic heterogeneity was found for types II and III in our study, suggesting that these two forms are allelic disorders.

Chromosome Mapping↗
PubMed1989

[Oxygen therapy and assisted ventilation in children at home].

Home oxygen therapy is indicated in children with chronic obstructive lung disease when the oxygen content of arterial blood is decreased (oxygen partial pressure less than or equal to 50 mmHg). Three systems are available: compressed gas, bulk liquid, and oxygen concentrator. Oxygen may be administered via nasal cannulae, masks, hoods or endotracheal tubes 15 hours per day. FIO2 and SaO2 are periodically measured. Since 1972, when the experience of mechanical ventilation at home began with poliomyelitis teenagers, many children with neuromuscular diseases have been discharged from hospital with a ventilator. More recently, younger children with chronic lung diseases have also managed at home using intermittent positive pressure ventilation. Oral mechanical ventilation using pressure preset ventilators has been used in neuromuscular diseases; early and daily ventilation of children with paralytic respiratory muscles provides better development of the thoracic cage and of the lungs. Artificial ventilation can be performed by external means; we consider this type of ventilation as contraindicated as it causes thoracic deformities in young children.

Child↗
PubMed1989

[Infantile spinal muscular atrophy].

The authors report 100 cases with prolonged spinal muscular atrophy (SMA) and survival beyond 4 years old. There were 46 boys and 54 girls. 23 of them had histories with an autosomal recessive form of inheritance. One case had a dominant form. The unity of cases described as Werdnig Hoffman disease [SMA I, SMA II (Childhood), ans SMA III (Kugelberg Welander)] is supported and our cases fell in three groups according to their ambulatory capabilities: never acquired, lost, or retained. 71 cases have never walked: the onset of symptoms was noted at an average age of 6.4 months +/- 3; the average age at the last examination was 16 years (4-39). Death occurred in 6 cases. Loss of walking occurred in 24 cases: the onset of symptoms was noted at an average age of 17.4 months +/- 14.2. 5 cases were still ambulatory: the onset of symptoms was noted at an average age of 2.4 years +/- 2.8. For these last 29 cases the average age at the last examination was 20 years (4-38); death occurred in two cases. The weakness was symmetrical and proximal. The period of worsening varied but, frequently, patients with a later onset of symptoms had a longer period of deterioration. Tongue fasciculations were present in all cases who never walked. Facial and masseter weakness occurred in 3 cases. Oesophagus dyskinesia and distension of the stomach due to brain stem lesions occurred in many cases. This brain stem damage was responsible of 2 sudden deaths (8-30 years). Premature puberty occurred in 14 cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1987

[Diffusion of vancomycin in the cerebrospinal fluid, in the dog, in the absence of meningeal inflammation].

The diffusion of vancomycin into the cerebro-spinal fluid was studied in 5 healthy dogs. Its appears that vancomycin does diffuse across the blood-brain barrier. Though the concentrations reached in the CSF are low, they are of the same order of magnitude as the minimal inhibitory concentrations of this antibiotic towards the germs usually treated. The usual pharmacokinetic parameters were determined.

Animals↗
PubMed1987

[Myasthenia in children: long-term course].

Twenty three children with myasthenia were followed up in our Department for 10 years. There were no familial forms of the disease; there were no patients with the pure ophthalmic form but 61 p. 100 of patients had serious respiratory disease. Steroid therapy was possible in 10 cases: in 4 patients under 15 years of age, short courses of steroids were ineffective; in 6 patients over the age of 15, long term steroid therapy resulted in some improvement but cortico-dependence developed in 4 cases. One child responded to treatment with veinoglobulin (R). Sixteen children underwent thymectomy; the symptoms in the 7 non-thymectomized patients were equivalent. The myasthenic syndrome was stable or worsened in 75 p. 100 of cases after thymectomy; only 56 p. 100 of children improved 2 years after surgery. The incidence of complete remission was the same in the children undergoing thymectomy and in those not treated surgically at 7 years after thymectomy. Our attitude is therefore not to refer myasthenic children for routine thymectomy and to avoid steroid therapy whenever possible.

Adolescent↗
PubMed1987

[Endocarditis of the ventricular septum. Echocardiographic diagnosis].

A 5 year-old child presented with prolonged fever, severe impairment of general condition and a pleuro-pericardium effusion. Echocardiography revealed a "bell-clapper-like tumor" in each ventricle, developed from the ventricular septum. Presence of a staphylococcal sepsis and early disappearance of the echocardiographic signs after antibiotic treatment allowed for diagnosis of bacterial endocarditis with abscess of the ventricular septum. Sinusitis and IgA deficiency were later found to be also present.

Child, Preschool↗
PubMed1986

[Ventricular staphylococcal infections. Treatment with vancomycin by continuous venous infusion].

Thirteen cases of meningeal and/or ventricular infection and 1 case of septicaemia, all caused by staphylococci, were treated with continuous intravenous infusions of vancomycin. Repeated measurements of vancomycin plasma and CSF levels by microbiological assay or by high performance liquid chromatography showed that the antibiotic entered the CSF after 48 hours of treatment and that its concentrations in CSF remained stable at 1 to 4 micrograms/ml (mean: 2 micrograms/ml) throughout the 3 weeks' treatment period. After treatment was discontinued, vancomycin became undetectable in CSF within less than 24 hours. All the children were cured.

Cerebral Ventricles↗
PubMed1985

[Immunologic thrombopenic purpura in children: therapeutic trial with high dose of intravenous gamma globulins].

Fifteen children with immunological thrombocytopenic purpura were treated by first intention with high dose intravenous gammaglobulins (Venoglobulins and Sandoglobulins). Nine children recovered after the first injection with platelet counts greater than 50,000/mm3 after 2 days' treatment, so countering the risk of haemorrhage. One child required a second course of treatment and was then cured. Three children had temporary rises in their platelet counts and then relapsed; two children did not react at all to the treatment. The most interesting feature of this new therapeutic approach is the possibility of preventing serious haemorrhagic complications in cases of severe thrombocytopaenia (less than 10,000/mm3) by inducing a rapid rise in the platelet count.

Adolescent↗
PubMed1978

Treatment of mediastinitis in children after cardiac surgery. A study of 20 cases.

Twenty-three cases of mediastinitis after cardiac surgery in children were treated by us between 1973 and 1976. Three patients died within 6 hours of admission. Treatment used in the tweny other cases are discussed. The mean age of the patients was three years and three months. The mediastinitis was evident an average of twelve days after extracoporeal circulation. A staphylococus was always responsible for the infection. Treatment was a combination of surgery, antibiotics and respiratory and nutritional supplies. The surgical treatment consisted of a careful mediastinal cleansing with resection of the sternal edges. In fifteen patients the thorax was closed after surgery, and an irrigation system installed using a solution of 4% Dakin in physiologic saline. Recovery was simple in 5 patients. In the 10 other patients of this group the thorax had to be reopened; one patient died after 90 days from Serratia marcescens endocarditis. The thorax was left open initially in five patients: one patient of this group died from candida endocarditis. All patients needed endotracheal ventilation through a nasotracheal tube (7 to 90 days of ventilation). Treatment with bactericidal antibiotics was pursued for three months and a monotherapy was kept for nine months. After reviewing the observed complications, our methods and results are compared with others in the literature.

Child↗
PubMed1978

Membrane oxygenators for acute respiratory insufficiency. Clinical use in 11 patients.

Extracorporeal circulation with a membrane oxygenator (ECMO) was used in 11 patients with acute respiratory insufficiency who did not respond to conventional treatment. By pass was veno-arterial in every case, seven times with femoral artery return, three times with axillary artery return, and once with both femoral and axillary return. Five patients died on ECMO. Six patients were taken off ECMO and two of them are long-term survivors. In nine cases ECMO allowed short-term control of respiratory failure. The respective roles of oxygen supply from ECMO and the haemodynamic changes incurred by its use are discussed. Although use of ECMO for long periods seems less hazardous now, present results are restricted by the lack of therapy for the underlying pulmonary lesions.

Acute Disease↗