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Biomedical subjects

E Roulet

Publications and source records attributed to E Roulet.

At least 37 records · Page 2Linked to original sources
PubMed1994

Follow-up of optic pathway gliomas in children with neurofibromatosis type 1.

Optic pathway gliomas (OPG) are found in about 15% of patients with neurofibromatosis Type 1 (NF-1). The natural history of OPG is not yet well documented. Treatment in cases with growing tumors is still controversial. Twenty-one patients with NF-1 and OPG, diagnosed over a 20-year period, and followed neuroradiologically and ophthalmologically for at least two years, were reevaluated. The diagnosis of OPG was made at a mean age of 7.1 years (range 0-14.5 years); six children were asymptomatic, 15 were symptomatic. The mean follow-up was 9.0 years (2.0-18.5 (years). In eight initially operated or biopsied patients (three optic nerve and five chiasmal gliomas) tumor regrowth was found in one patient without progression on subsequent follow-up. Improvement of visual acuity occurred in one child after operation of a large suprasellar tumor and deterioration in one patient after biopsy of a chiasmal glioma. The neuroradiological follow-up of the 13 not-operated and not-radiated patients (four optic nerve and nine chiasmal gliomas) was stable in 10, progressive in three, resulting in visual loss in one patient. In 11 children (52%) a second tumor outside the optic pathway was found at a mean age of 4.0 years after the diagnosis of an OPG. Until now they are mostly asymptomatic. Second site tumors were operated in two children because of rapid tumor growth, one child died of a brainstem tumor. OPG are a frequent complication in children with NF-1, appearing within the first decade.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

[Isolation of Borrelia burgdorferi in the cerebrospinal fluid of 3 children with neurological involvement].

Isolation of Borrelia burgdorferi from the CSF is relatively rare. The present report describes the first three isolations in Switzerland. Clinically, our first observation confirmed the frequent association of B. burgdorferi with peripheral facial paresis in children. The other two cases illustrate the variety of symptoms in neuro-borreliosis. In the first case the culture was positive after 6 weeks. The results of serologic tests (indirect immunofluorescence and ELISA) for detection of antibodies against B. burgdorferi were negative or non-significant in this child's serum. On the other hand, specific antibodies (IgG) were detected in the serum by western blot. Culture of the second CSF already showed Borrelia growth after 10 days. Immunofluorescence revealed high antibody titers (1/256) against B. burgdorferi in this patient's serum. IgG showed a weakly positive reaction in western blot. The reliability of this result was confirmed by isolation of Borrelia. In neither of the two CSF could intrathecal synthesis of specific antibodies be demonstrated. In the third case, however, immunofluorescence showed IgG antibody titers of 1/128 in the CSF and 1/512 in serum. Intrathecal synthesis of specific antibodies was demonstrated with an index of 13.4 (norm < 2). Western blot confirmed the specificity of the reactions observed with the serum and CSF IgG. Culture of CSF produced significant growth of Borrelia within 7 days. Protein profile and reactions with poly- and monoclonal antibodies confirmed that the three strains belonged to B. burgdorferi.(ABSTRACT TRUNCATED AT 250 WORDS)

Antibodies, Bacterial↗
PubMed1993

Maternally inherited Leigh syndrome.

A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.

Adenosine Triphosphatases↗
PubMed1993

Speech and oromotor deficits of epileptic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS). Relationship to the acquired aphasia-epilepsy syndrome.

The authors report three children who suffered temporary oromotor or speech disturbances as focal epileptic manifestations within the frame of benign partial epilepsy of childhood with rolandic spikes and review similar cases described in the literature. The deficit can occur as an initial symptom of the disorder without visible epileptic seizures and interferes in a variable way with simple voluntary oromotor functions or complex movements including speech production, depending on the exact location and spread of the discharging epileptic focus around the perisylvian region. The most severe deficit produces the anterior operculum syndrome. More subtle non-linguistic deficits such as intermittent drooling, oromotor apraxia or dysfluency, as well as linguistic ones involving phonologic production, can occur. The rapidity of onset, progression and recovery of the deficit is very variable as well as its duration and presumably reflects the degree of epileptic activity. In some cases, rapid improvement with antiepileptic medication occurs and coincidence between the paroxysmal EEG activity (which is usually bilateral) and the functional deficit is seen. The clinical and EEG profile of the seizures disorder and the dynamic of the deficit in these cases bear a strong resemblance to what is seen in the acquired epilepsy-aphasia syndrome (Landau and Kleffner). The variations in clinical symptoms appear more related to the main site, local extension and bilaterality of the epileptic foci rather than a basic difference in physiopathology.

Aphasia↗
PubMed1992

[Transverse myelitis and optic neuromyelitis in children. Apropos of 3 case reports].

We report on three children with acute transverse myelitis. One of them also had optic neuritis. In connection with these three cases, we discuss etiology, diagnosis and outcome of transverse myelitis in childhood and possible involvement of the optic nerve. Our observations show the variability of spinal cord deficit and the fact that there can be a good prognosis, despite severe initial neurological deficits and massive elevation of basic myelin protein in children with ATM.

Adolescent↗
PubMed1990

[Educational value of diabetes camps for children].

Patient education plays a key role in diabetes care, and summer camps have been shown to be of value in teaching diabetic children. In our camps, we have shown that education significantly improves knowledge of diabetes in both 6-11 and 12-16 year old children. This increased knowledge was retained for at least one year in both age groups. We show that structured age group education associated with individualized teaching was more efficient in enhancing diabetes knowledge than individualized education alone. Camp attendance also significantly improved the children's self-management at home. We show a strong correlation between the degree of diabetes knowledge and autonomy (r = 0.82) which was independent of both the children's age and duration of diabetes. The lack of a strong correlation between the improved metabolic control assessed 3 months after camp (p less than 0.05), and either increased knowledge and/or autonomy in the children tested, confirms that other factors influence their adaptation to diabetes. In conclusion, camps whose teaching staff is well trained in educational methods are of value in enhancing both the diabetes knowledge and self-management of children as young as 6 years of age, and/or of children whose diabetes is of recent onset, and may therefore be helpful in improving their coping processes.

Adaptation, Psychological↗
PubMed1990

Benign paroxysmal tonic upgaze of childhood--a new syndrome.

A child with intermittent upward deviation of the eyes starting at 9 months of age, compensating bending forward of the head, nystagmus on attempted downward gaze and a mild gait ataxia is described. The symptoms gradually disappeared between 3 and 4 years of age. Four cases with identical clinical findings have been initially described by Ouvrier in Australia (5) as "benign paroxysmal tonic upgaze of childhood". It is apparently a new syndrome.

Child, Preschool↗
PubMed1989

Synthesis of a homodimer neurohormone precursor of locust adipokinetic hormone studied by in vitro translation and cDNA cloning.

The homodimer neurohormone precursor P1, consisting of 41 residue subunits or A-chains, is synthesized by the glandular neurosecretory cells of the corpora cardiaca (CC) of the locust Schistocerca gregaria. Processing of P1 generates two copies of a 10 amino acid peptide neurohormone (AKH I) and one copy of a homodimer peptide (APRP 1). Here we show that the P1 dimer is formed from two independent A-chain translation products. Translation of CC mRNA in vitro produces a prominent 6.4 kd protein, the synthesis of which can be blocked by oligonucleotides hybridizing to mRNA encoding the A-chain. Northern blot experiments suggest that the 6.4 kd protein is produced by an integral of 500 base mRNA. cDNA cloning reveals a pre-A-chain structure in which a single copy of the A-chain is preceded by a 22 amino acid signal peptide. This evidence indicates that the P1 dimer is synthesized by coupling of very small translational products rather than by folding and processing of a larger protein containing more than one copy of the A-chain.

Amino Acid Sequence↗