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Biomedical subjects

F Dubas

Publications and source records attributed to F Dubas.

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

[Papular mucinosis associated with myopathy].

BACKGROUND: Papular mucinosis is an uncommon condition sometimes associated with myopathy as in our case. CASE REPORT: A 54-year-old woman presented several disseminated pruriginous papules that spread progressively. Histopathology of a skin biopsy showed mucine deposits and fibroblasts in the derma. Serum monoclonal lambda IgG was evidenced. The patient complained of weakness of the proximal muscles and dysphagia. Serum creatine phosphokinase was moderately elevated and the electromyography showed a typical myogenic pattern. Histopathology of a muscle biopsy disclosed a polymyositis aspect without mucine deposits. The patient was given prednisone. The skin lesions regressed totally with no modification of the muscle deficit. DISCUSSION: Myopathy associated with papulous mucinosis generally presents as a proximal deficit with dysphagia. Myalgia and amyotrophy are exceptional. Moderate serum myolysis is often evidenced. The electromyogram shows a myogenic pattern. The pathophysiology of this condition remains unclear, but the association with papulous mucinosis does not appear to be fortuitous due to its frequency. No standard treatment has been established. General corticosteroid therapy is generally effective and methotrexate, melphalan, isotretinoine and D-penicillamine have given good results in a few cases.

Biopsy↗
PubMed1999

mtDNA haplogroup J: a contributing factor of optic neuritis.

Optic neuritis frequently occurs in multiple sclerosis (MS), and shares several similarities with the optic neuritis of Leber's hereditary optic neuropathy (LHON), which is mainly due to maternally transmitted mitochondrial DNA (mtDNA) mutations. Our report shows for the first time that a mitochondrial DNA background could influence the clinical expression of MS. One European mtDNA haplogroup was found only in MS patients with optic neuritis but not in MS patients without visual symptoms. Therefore, we hypothesize that mtDNA haplogroup J might constitute a risk factor for optic neuritis occurrence when it is coincidentally associated with MS, but not be a risk factor for developing MS per se as suggested previously.

Alleles↗
PubMed1998

[Periodic hypokalemic paralysis disclosing thyrotoxicosis].

BACKGROUND: Hypokaliemic periodic paralysis is an uncommon complication of hyperthyroidism occurring sporadically almost exclusively in young Asian men. The clinical presentation is the same as in familial hypokaliemic periodic paralysis. Treatment consists of conventional management for thyrotoxicosis. CASE REPORT: A Laotian man aged 42 years had suffered episodes of pain and fatigue in the lower limbs lasting 2 to 7 days over the last few months. The patient was hospitalized with severe limb pain. Clinical examination found severe motor deficit involving all four limbs. Laboratory findings induced hypokaliemia (1.8 mmol/l) and hyperthyroidism (free thyroxin 36 pmol/l, TSH < 0.005 mlU/l). Thyroid echography revealed multinodular goitre with two heterogeneous nodules. Strong uptake was seen on the scintigram. The motor deficit regressed within 8 hours and the kaliemia was restored with 1.50 g KCl. The patient was discharged with carbimazole (30 mg/d). Three months later he was euthyroid and symptom free. Total thyroidectomy was performed and L-thyroxin prescribed. The patient remains symptom-free at the last follow-up, 5 months after thyroidectomy. DISCUSSION: The pathogenesis of hypokaliemic periodic paralysis involves the ATPase-dependent sodium-potassium pump whose activity is stimulated by thyroid hormones. The reasons for the ethnic and male predominance are poorly elucidated.

Adult↗
PubMed1998

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother, at the same age, presented a classical phenotype of LGMD in an advanced functional stage.

Adult↗
PubMed1998

Autosomal dominant late adult onset distal leg myopathy.

A distal myopathy characterised by an autosomal dominant inheritance, with clinical onset around the age of 60, early involvement of posterior leg and thigh muscles, and normal or slightly-elevated creatine kinase levels was identified in three members of a French kindred. Tibialis anterior muscles were involved only in the most severely-affected sibling. Histological features included large multiple nonrimmed vacuolation and focal intrasarcoplasmic masses which immunoreacted with the anti-desmin antibody. Cytoplasmic and intranuclear tubulofilamentous inclusions were observed by electron microscopy. The condition of this familial syndrome is discussed in relation to previously-identified autosomal dominant distal myopathies and inclusion body myopathies.

Age of Onset↗
PubMed1998

[Cervical deficit radiculopathy in 3 cases of vertebral artery dissection].

Three cases of extracranial vertebral artery dissections with upper limb peripheral motor deficit (C5-C6) are reported. Six similar cases were also found in the literature. Central neurological symptoms occurred in five of these nine cases, suggesting the diagnosis of dissection. The peripheral motor or sensorial deficit was strictly isolated in the four other cases, simulating radicular neuralgia due to discopathy or foraminal compression. In case of dissections, a precise analysis of pain is helpful to guide diagnosis; sharp, unbearable, continuous and extended neck pain without nocturnal paroxysms and posterior neck stiffness is typical. Analgesics or anti-inflammatory drugs are ineffective. Peripheral motor deficit is more common than sensory deficit. Recovery was complete in this series. In most cases, the radiculopathy appears to be due to cervical root compression in its extraforaminal course due to the dissection hematoma and rarely to radicular ischemia.

Adult↗
PubMed1997

Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis.

OBJECTIVES: To compare the diagnosis and prognosis of extracranial versus intracranial vertebral artery dissections without intracerebral haemorrhage. METHODS: Twenty two vertebral artery dissections were defined by intra-arterial angiography and classified in two groups: group 1, nine extracranial dissections (seven patients) and group 2, 13 intracranial dissections (nine patients), involving the basilar artery in five cases. Bilateral dissections were found in 38% of the population. Before angiography, all the patients had been investigated by continuous wave Doppler, colour coded Doppler, and transcranial Doppler. Mean follow up was 44 months. RESULTS: The two most important symptoms of both dissections (81% of patients) were unbearable pain preceding stroke and progressive onset of stroke within a few hours. Severe ultrasonic abnormalities were present in 94% of the patients whereas specific ultrasonic signs (segmental dilation with eccentric channel) were rare (19%) in both groups. Major strokes and brainstem strokes represented respectively 67% and 78% in intracranial versus 43% and 29% in extracranial dissections. Severe sequelae (permanent disabling motor or cerebellar deficit) were more often associated with intracranial (44%) than with extracranial dissections (14%). No recurrence of dissection and no cerebral haemorrhage were found under heparin. Significant factors of poor outcome (P< 0.05) were the initial severity of the stroke and the bilateral location of dissections. CONCLUSION: The combination of a pain and a progressive onset of the stroke, corroborated by ultrasonic findings, could have helped to recognise most of these types of dissections. Intracranial dissections have a poorer prognosis than extracranial dissections.

Adult↗
PubMed1997

Anti-NGF autoantibodies and NGF in sera of Alzheimer patients and in normal subjects in relation to age.

It has been suggested that inflammation may be a possible cause of Alzheimer's disease (AD). Increased anti-NGF autoantibody levels and increased NGF frequency in serum have previously been associated with inflammatory responses. In this study no changes in anti-NGF autoantibody titers or in NGF frequency were detected in sera of AD patients, suggesting that they are not involved in the neuroimmunological mechanisms underlying AD. There were neither age-associated changes in NGF frequency in sera of four groups of normal subjects between 18-91 years of age. In contrast, anti-NGF autoantibodies were significantly increased in sera of the 31-45 yr age group.

Adolescent↗
PubMed1997

Detection of vertebrobasilar intracranial stenoses: transcranial Doppler sonography versus angiography.

Vertebrobasilar intracranial stenoses seem to carry a higher risk of brain stem ischemia than proximal vertebral artery stenoses. Our aim was to assess the value of transcranial Doppler sonography versus angiography in detecting and quantifying these intracranial stenoses. All consecutive patients who underwent transcranial Doppler sonography prior to angiography from 1989 to 1994 and whose sonograms showed a stenosis of greater than 50% of one vertebral artery (21 cases) or of the basilar artery (eight cases) were included in the study. These patients were compared with 60 other consecutive stroke patients studied via transcranial Doppler sonography prior to normal vertebrobasilar angiography The transcranial Doppler sonographic criteria for stenosis were a peak systolic frequency shift greater than 2 KHz. A tight stenosis was identified by this pattern combined with direct and reverse low frequencies of high spectrum energy. The sensitivity of transcranial Doppler sonography using a peak systolic frequency shift in diagnosing stenoses reached 80% and its specificity was 97% if only atheromatous stenoses were considered. The main diagnostic failures concerned bilateral stenoses or contralateral occlusion, tandem lesions, and upper basilar artery stenosis. Transcranial Doppler sonography underestimated the degree of stenosis compared to angiography in 55% of the cases. We conclude that transcranial Doppler sonography is accurate in recognizing a stenosed vessel in the intracranial vertebrobasilar circulation, but if this finding will alter therapy, the examination must be complemented by magnetic resonance angiography.

Adult↗
PubMed1996

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

The molecular defects in the HEXB gene encoding the common beta-subunit of lysosomal beta-hexosaminidase A (beta-Hex A, alpha beta) and beta-Hex B (beta beta) were investigated in a Portuguese family affected with late onset Sandhoff disease (GM2-gangliosidosis variant 0). This family comprised two unaffected daughters and three affected sibs who developed at about age 17 cerebellar ataxia and mental deficiency. Their parents were consanguineous and clinically asymptomatic. There was no detectable beta-Hex B activity and a profound reduction in the activity of beta-Hex A in the leukocytes and transformed lymphoid cell lines from the affected sibs. The expected intermediate values were observed in the parents as well as in one daughter and her children. Western analysis revealed the presence of reduced, but detectable amounts of mature beta-chain protein in cell lysates from the probands and intermediate levels in the parents. Nucleotide sequencing of amplified, reverse-transcribed beta-chain mRNA demonstrated the presence of two single point mutations: an A619 to G transition in exon 5 (Ile207-->Val), and a G1514 to A transition in exon 13 (Arg505-->Gln). Both of these two mutations have been previously linked to the adult form of Sandhoff disease in compound heterozygote patients. All three affected sibs were found to be homoallelic for both mutations. Interestingly, while the mother was heterozygous for each mutation, the father was homozygote for the A619-->G substitution and heterozygote for the G1514-->A transition. Since the father is homozygote for the A619-->G mutation but expresses a biochemical phenotype consistent with a carrier of Sandhoff disease and is clinically asymptomatic, this substitution is likely a neutral mutation. We confirmed this hypothesis by finding this transition present in 4 of 30 alleles from normal individuals. We conclude that homozygosity for the G1514-->A mutation is exclusively responsible for the adult form of Sandhoff disease in this family, and that the A619-->G substitution is not a deleterious mutation but rather a common HEXB polymorphism.

Adult↗
PubMed1995

Colour Doppler and duplex sonography and angiography of the carotid artery bifurcations. Prospective, double-blind study.

We undertook a prospective double-blind study of 128 carotid artery bifurcations using colour Doppler and duplex sonography and angiography. Sixty-four patients with cerebrovascular events were admitted for angiography. All underwent sonography within 24 h of angiography. Standard duplex sonography and colour Doppler imaging without spectral analysis were performed, on the same device, by two sonographers, using defined morphological and haemodynamic criteria. Digital radiological data on vessel diameter were interpreted independently by two radiologists. The two sonographic methods gave similar grading of stenosis, compared to angiography, with an accuracy ranging from 96% in severe to 83% in minor stenoses. Colour Doppler studies gave better area measurements than standard duplex sonography, except for major stenoses. Discrepancies between ultrasonography and angiography were due mainly to minor stenoses and large plaques of calcification on the vessel walls, which masked very segmental 70% stenoses in 2 cases. Angiography is limited by its own resolution, does not show uncalcified vessel walls and does not give cross-sectional data. It would therefore be inappropriate for showing small plaques, the full extent of ectasia or for defining the carotid bulb accurately. The advantages of colour methods were in investigating sinuous or deep vessels and hypoechoic plaques. Analysis of the residual lumen of a stenosis and its extent could be determined more rapidly. Haemodynamic quantification of stenoses by standard duplex sonography may be difficult because of limited sample volume and error in estimation of angle, whereas colour Doppler allows semiquantitative estimation of haemodynamics.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Flow Velocity↗
PubMed1994

[Cerebral amyloid angiopathy].

The most usual form of cerebral amyloid angiopathy is due to deposition of B protein on vessel walls. This senile angiopathy is often, but inconstantly, associated with Alzheimer's disease, and rarely causes intracerebral hemorrhage, which is typically lobar and recurrent, occurring in elderly normotensive patients with ou without dementia. There is probably no cause-effect relationship between senile cerebral amyloid angiopathy and Alzheimer's disease, which may occur independently and seems to represent two modalities of cerebral amyloidosis. Other forms of cerebral amyloid angiopathy are exceptional: hereditary cerebral hemorrhages with amyloidosis differ from each another in type of fibrillar protein (cystatine-C, variant of B protein, transthyretine).

Alzheimer Disease↗
PubMed1994

Effect of subclavian syndrome on the basilar artery.

Fifty-five patients with a permanent or intermittent subclavian steal syndrome demonstrated by continuous wave Doppler were included in a prospective study: 25 patients without vertebro-basilar symptoms, 8 symptomatic patients with defined vertebro-basilar symptoms and 22 with hemodynamic vertebro-basilar occurrences. The basilar artery velocity was recorded by Transcranial Doppler Sonography in baseline conditions, and after a hyperaemia test to the upper limb. A spontaneous, incomplete basilar steal was diagnosed in seven patients, and a complete basilar steal in one patient, (14.5% of the cases). After hyperaemia test, 18 other incomplete basilar steal were observed. The occurrence of a basilar steal was higher in the vertebro-basilar group (57% of the cases) especially in 7 of the 8 cases with defined vertebro-basilar symptoms; it was lower in the patients without vertebro-basilar occurrences (36% of the cases). This basilar steal was also seen in five of the six symptomatic patients with opposite vertebral artery stenosis above a 50% diameter. Transcranial Doppler Sonography could help to define a subgroup of subclavian steal syndrome with a high risk of strokes.

Adult↗