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M Bonduelle

Publications and source records attributed to M Bonduelle.

At least 91 records · Page 5Linked to original sources
PubMed1994

[Charcot. Dates. Legend and reality].

This introductiion to the session devoted to Charcot reviews the important steps in his career: 1848, the internship, followed by the "chef de clinique" state (1852-53); the central hospital office in 1856; the agregation in 1860; the chair of pathological anatomy in 1872; the clinical chair in diseases of the nervous system in 1882. We review as well the milestones in his scientific work. His arrival in 1862 at the Salpêtrière which he would never leave; there in 1866, he started a "free" course which became the point of departure for his reputation. Taking advantage of histology together with a mastery of the anatomical-clinical method permitted him to achieve considerable progress with a few years (associating locomotor ataxia with lesions of the posterior roots and columns; acute and chronic progressive muscular atrophy with those of the anterior horn: separating multiple sclerosis from Parkinson's disease) which culminated in the masterful description of amyotrophic lateral sclerosis (1874), the pathological anatomy and physiology of the spinal cord (1873) and cerebral localisations of motor areas (1875). Beginning in 1878, he applied the nosological method to the study of hysteria, relying on the notion of "analogous anatomy" in seeking a correspondence between organic lesions and "dynamic lesions". In 1883 and 1884, his approach to aphasia led him to introduce beyond the anatomical-clinical fact a new speculative dimension, that of psycho-physiology. This he applied to interpret hysterical ailments and "psychic paralyses". The personality of Charcot is briefly sketched. In the arts as in politics, he was more of a conservative than an opportunist; authoritarian, shy, and brusque, gloomy and taciturn, he nontheless had a remarkable power to attract.

Clinical Medicine↗
PubMed1994

A case of term mors in utero in a chromosome 11p linked long QT syndrome family.

Isolated congenital long QT syndrome is an autosomal dominant disorder characterized by recurrent syncopes, ventricular arrhythmias, or sudden death often accompanied by a prolonged QTc interval on ECG. On the occasion of a pregnancy complicated by an intra-uterine death of a full term baby with prolonged bradycardia a long QT syndrome was diagnosed in the mother. Familial examination revealed a prolonged QTc in her mother, brother and sister, all with positive history of syncopes. DNA linkage analysis was subsequently performed in this family with DNA markers on the short arm of chromosome 11. Four of the children in the family, younger than 5 years, were found to be asymptomatic carriers. Three of them showed a clear QTc prolongation on a 12 lead ECG. Another showed QTc prolongation during Holter monitoring but had a normal basic ECG. Measurement of QTc interval in families affected by the long QT syndrome is helpful but does not always permit an accurate diagnosis. Familial screening with DNA linkage analysis especially in families where a member is affected by the syndrome, can reveal "masked" cases which can further be investigated with Holter or effort ECG. The identification of locus heterogeneity of the long QT syndrome complicates genetic diagnosis. Only prospective studies in more families with long QT syndrome can show the additional diagnostic and prognostic value of DNA linkage.

Adult↗
PubMed1994

[Charcot, anatomo-pathologist].

Charcot (1825-1893) brought new vigor to the clinicopathologic tradition of the Paris school by adding to macroscopic anatomy the new dimension of histology--still marginal in France when, in 1862, he came to the Salpêtrière and undertook the exploration of its enormous resources in pathology. Vulpian was the initiator. Cornil, Charcot's intern in 1863, taught him the techniques which he had acquired from Virchow's laboratory. Within a decade, Charcot established the bases for a neurological classification which have endured. He described multiple sclerosis. He attributed progressive and acute muscular atrophy to lesions of anterior horns of the spinal cord; locomotor ataxia to the posterior horn and spinal root. He gathered together the data leading to the description of amyotrophic lateral sclerosis. In 1872 (in fact 1873) he replaced Vulpian in the chair of pathological anatomy which he held for ten years. His lessons in pathology of the viscera; kidney, liver, and bile ducts, lung, make up several volumes of his Completes Works. In the study of Localizations of diseases of the spinal cord (1873-74), he specified the anatomy and physiology of the cord. In 1875, and then in 1880, the Cerebral localizations of motor activities marked a decisive step. By 1882, when the clinical chair for the diseases of the nervous system was inaugurated, Charcot was already substantially involved in the study of hysteria. He approached that subject from a perspective that remained loyal to pathology setting up by analogy an ongoing correspondence in terms of anatomical sites, between the "dynamic lesion" assumed to be responsible for manifestations of the neurosis, and organic lesions which produced the same symptoms.

France↗
PubMed1994

Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling.

Progressive diaphyseal dysplasia (Camurati-Engelmann disease) is a rare hereditary disorder of bone characterized by progressive, bilaterally symmetrical diaphyseal sclerosis of the long bones. Severely affected patients show muscle weakness, waddling gait and severe pain in the extremities. However, clinical and radiological investigations in families with Camurati-Engelmann disease demonstrate a wide variability in expression of the manifestations. Asymptomatic patients were in several instances diagnosed only after radiologic screening of relatives. Although considered an autosomal dominant disorder, families are described where neither clinical nor radiological manifestations can be demonstrated in direct ancestors of patients. Combining roentgenographic examination with bone scintigraphy seems therefore necessary in confirming or ruling out progressive diaphyseal dysplasia in each family member.

Bone and Bones↗
PubMed1993

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.

BACKGROUND: Myotonic dystrophy is the most common inherited form of muscular dystrophy affecting adults. Its symptoms are not confined to muscle, and variability in their nature and in the patient's age at their onset can make diagnosis difficult. A specific unstable DNA sequence associated with myotonic dystrophy has recently been identified. We describe the use of a DNA probe (p5B1.4) that can detect this mutation directly, improving the accuracy and speed of diagnosis. METHODS: We analyzed DNA extracted from the peripheral-blood lymphocytes of 112 unrelated patients with myotonic dystrophy and their families, using molecular genetic techniques. Southern blot analysis and amplification with the polymerase chain reaction were used to determine the extent of expansion of the unstable DNA sequence. RESULTS: Probe p5B1.4 allowed direct identification of the myotonic dystrophy mutation in 108 of the 112 unrelated patients. In three families for whom the clinical and genetic data obtained with linked probes were ambiguous, the probe identified persons at risk for symptoms of this disorder and demonstrated that a possible sporadic case of myotonic dystrophy was familial. In one of these families the size of the unstable myotonic dystrophy-specific fragment decreased on transmission to offspring, who remained asymptomatic. CONCLUSIONS: The diagnosis of myotonic dystrophy is improved by the use of a probe that detects directly the mutation responsible for this disorder.

Adolescent↗
PubMed1993

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and 21 were screened for by DGGE. We identified 17 mutations, which accounted for 94.3% of the Belgian CF chromosomes. Four novel mutations and a novel polymorphism were characterized. The detection of such a high proportion of Belgian CF mutations is important in understanding the functional role of the molecule and in improving prenatal and genetic diagnosis of CF.

Adolescent↗
PubMed1993

[Portrait of Jean Martin Charcot].

Throughout paintings, engravings, and photography, Charcot's face and his life at the Salepêtrière have become widely known. More importantly, his biographers and those who wrote about their firsthand experiences with Charcot have brought to life his authority and his penetrating eye. Charcot held his students, his patients, and all those in close contact with him under a despotic rule. His shyness and emotions hid behind a cold and impenetrable mask. Much has been written about Charcot's life at the Salpêtrière. He transformed the old hospice into an institute of neurology considered internationally as a model, and its fame attracted visitors and patients from around the world. He formed a school at the Salpêtrière composed of his many students. These young men gathered each Tuesday evening in the luxurious reception halls of his mansion on Boulevard Saint-Germain. There they mixed with writers, artists, and politicians who were firmly republican and anticlerical. There is only information on Charcot's early years other than the major dates of his career and a few legends. Arriving at the Salpêtrière in 1862, he created the foundations of neurology over the next decade by applying the anatomoclinical method. Built on the traditions of the French anamatopathological method, his system was adapted by Charcot to incorporate the new advances in microscopy and cellular pathology. Later in his career, he also directed a scientific effort towards psychophysiologic explorations of hysteria and hypnosis, some inciting severe criticism. This judgement has been revised and in its place there remains the boldness of an innovative mind. His neurological achievement remains undisputed.(ABSTRACT TRUNCATED AT 250 WORDS)

France↗
PubMed1991

A comparative study of danazol and norethisterone in dysfunctional uterine bleeding presenting as menorrhagia.

This randomized open study compared the efficacy and safety of norethisterone, 5 mg three times a day from day 19 to 26, and danazol, 200 mg daily, in the treatment of dysfunctional uterine bleeding presenting as menorrhagia. Clinical criteria were employed to confirm the diagnosis, and subjective assessment of the condition was performed during one pre-treatment and three treatment cycles. Fourteen patients commenced norethisterone and 10 danazol. Bleeding intensity scores were significantly lower with danazol than with norethisterone, and patients assessed their blood loss to be significantly less with danazol than with norethisterone. Associated symptoms of backache and abdominal pain were improved to a similar degree by both treatments. Adverse reactions were reported with similar frequency and were of a similar nature in both treatment groups.

Abdominal Pain↗
PubMed1991

Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.

Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII), presented with fetal hydrops at 20 and 26 weeks of gestation. The enzyme deficiency was observed in cultured amniotic fluid cells and in fetal plasma from cord-blood and was confirmed after termination of pregnancy. A third case presented with transient ascites at 6.5 months of gestation. Mild dysmorphic features at birth and gradual neurological deterioration were observed. Deficiency of beta-galactosidase was documented confirming a GM1 gangliosidosis. Evidence has accumulated that fetuses affected by lysosomal diseases, may present with transient or persistent hydrops fetalis. The exact frequency is however not known. Further diagnostic studies in persistent or transient hydrops fetalis, looking for lysosomal and other metabolic diseases, whenever major causes of hydrops fetalis have been excluded, are therefore indicated. Amniocentesis and cordocentesis should always be performed.

Chorionic Villi Sampling↗
PubMed1990

The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population.

The cystic fibrosis (CF) gene deletion F508 was studied in a Belgian population of 74 families and their 83 CF children. The haplotypes for CF and normal chromosomes had previously been determined with several linked DNA probes. In our CF population, the gene deletion F508 was found in 76% of the mutant alleles. Of the deletion F508, 97% segregated with the highest risk haplotype for the CF carrier status. Some 61% of our families were found to be homozygous for this major CF mutation. Each of our three pancreatic sufficiency patients (two of whom were siblings) was heterozygote for the F508 deletion.

Belgium↗
PubMed1990

[Aran-Duchenne? Duchenne-Aran? The quarrel around progressive muscular atrophy].

A description of progressive muscular atrophy, the first item in neuro-muscular nosography, figures in the memoir published by F.A. Aran in 1850. There, all the essential features of the disease can be found: its usual onset at the distal end of the upper limbs, its slowly progressive worsening, with muscular atrophy sparing certain muscles or muscular fascicles, its peculiar "claw hand", its muscular "fasciculations" and cramps, with untouched sensitivity. After praising Aran's "beautiful description", G.B. Duchenne de Boulogne subsequently persisted in claiming paternity, untiringly referring to a memoir on "muscular atrophy with fatty transformation" said to have been submitted to the Académie des Sciences in 1849. There is no trace of this memoir, and while it is true that the "localized electrisation" technique was applied by Duchenne to all the patients in Aran's memoir, and that he was the sole author of two of his observations, it is Aran who must be credited with the clinical description, the synthetic presentation and the appellation of "progressive muscular atrophy". Initially, this term covered a number of disparate facts which were later identified and put in their proper nosological place, even though this dismemberment left standing what Charcot called "Duchenne-Aran disease" before the Aran-Duchenne denomination prevailed. This denomination is now customary, and rightly so.

Eponyms↗