Le mécanisme héréditaire de la maladie de Dupuytren

Dupuytren's disease recurs more frequently than generally assumed. 24 typical family trees derived from the literature are analyzed here. The main conclusions that can be derived are the following: 1) Monogenic heredity is confirmed. 2) The sex ratio in the affected families is 61,2 m: 38,8 f. 3) The sex ratio in unaffected families is 38 m: 43 f. 4) The expressivity of the disease is variable. Penetrance, which is incomplete, varies according to the sex. In our selected material, the penetrance rate is 93,6% in the males and 42,9% in the females. 5) Males transmit the gene in 68% of the cases; females in 32%. 6) Incomplete sex linkage can be excluded. 7) A comparison is made between the really observed values and the theoretical rates for normal and affected men and women for the chance of an auto-somatic dominance. These observations make possible the conclusion that the number of affected females is too low as compared with unaffected females and affected males. 8) A new theory is suggested concerning the mechanism of heredity based on the different statistical values. The responsible factor would be deadly for 60% of the XX affected zygotes. But 60% of the affected X gametes produced by the mother, being identified by an essential incompatibility for the unaffected X spermatozoid, would be electively fecundated by a Y gamate. This machanism would explain the excess of affected males, the small proportion of affected females and the sex-ratio of 61,2: 38,8. The concordance between the observed values and the theoretically expected values of such a kind seem to convalidate our new theor

Fibromatosis of the Plantar Fascia: Diagnosis and Indications For Surgical Treatment

Plantar fibromatosis is a rare, benign lesion involving the plantar aponeurosis. Eleven patients (13 feet) underwent 24 operations, including local excision, wide excision, or complete plantar fasciectomy. Clinical results were evaluated retrospectively. There were no differences among the subgroups in postoperative complications. Two primary fasciectomies did not recur. Three of six revised fasciectomies, seven of nine wide excisions, and six of seven local excisions recurred. Our results indicate that recurrence of plantar fibromatosis after surgical resection can be reduced by aggressive initial surgical resection

Laennec, el método anatomoclínico y la invención del estetoscopio : parte 1 : de Bretaña a París, hasta la gran invención

Hasta comienzos del siglo XIX, el examen físico del paciente tenía un lugar secundario en el diagnóstico médico. El enfoque diagnóstico comenzó a cambiar a partir del método anátomo-clínico desarrollado principalmente en la Escuela de Medicina de París. En la revolución allí iniciada tuvo un papel muy destacado la invención del estetoscopio por René Théophile Hyacinthe Laennec (1781-1826). Este es un relato de la vida y circunstancias de Laennec desde su nacimiento hasta el descubrimiento de la auscultación mediata por medio del estetoscopio. En la segunda parte me referiré a la obra principal de Laennec y su impacto en la práctica de la medicina desde esta invención hasta el fallecimiento de su inspirado autor.Until the early nineteenth Century, the physical examination of the patient had a secondary role in medical diagnosis. The diagnostic approach began to change starting with the anatomo-clinical method developed mainly in the School of Medicine of Paris. In the revolution that was started there, the invention of the stethoscope by René Théophile Hyacinthe Laennec (1781-1826) had an outstanding role. This is an account of the life and circumstances of Laennec since his birth to the discovery of mediate auscultation by means of the stethoscope. In the second part, I will address Laennec’s main work and its impact on the practice of medicine since this invention to the demise of its inspired author.Fil: Saraví, F.D.. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Departamento de Morfofisiologí

Surgery for Dupuytren’s contracture of the fingers (Review)

Background - Dupuytren's disease is a benign fibroproliferative disorder that causes the fingers to be drawn into the palm via formation of new tissue under the glabrous skin of the hand. This disorder causes functional limitations, but it can be treated through a variety of surgical techniques. As a chronic condition, it tends to recur. Objectives - To assess the benefits and harms of different surgical procedures for treatment of Dupuytren's contracture of the index, middle, ring and little fingers

Хирургическая коррекция сгибательной контрактуры суставов пальцев кисти при болезни Дюпюитрена

ДЮПЮИТРЕНА КОНТРАКТУРАКИСТЬОРТОПЕДИЯТРАВМАТОЛОГИЯСОЕДИНИТЕЛЬНОЙ ТКАНИ БОЛЕЗНИДЮПЮИТРЕНА БОЛЕЗНЬВ основу исследования положена разработка дифференцированного подхода к хирургической коррекции сгибательной контрактуры суставов пальцев кисти с целью улучшения результатов реабилитации пациентов с кистевыми проявлениями болезни Дюпюитрена

Dupuytren's Disease: Anatomy and Surgical Treatment

The principal aim of this written account is to describe the evolution of a surgical approach to the treatment of Dupuytren's Disease based on current knowledge of pathogenesis and precise description of the anatomy. The historical record of the life and works of Baron Guillaume Dupuytren, together with those of his contemporaries, pupils and critics have been reviewed to clarify the understanding of the condition at that time and to uncover wisdom which has been forgotten. The disease process is considered by analysis of studies of incidence, aetiological factors, pathology and related fibromatous lesions. Series of dissections of the palm and digits in fresh and preserved cadaveric hands have been performed to establish a new perspective on the micro-anatomy of the normal ligamentous components of the hand. The lesions of Dupuytren's Disease - palmar nodules, pits and cords, distortion of palmar creases and knuckle changes - have been examined by observations of clinical signs and operative dissections. New clinical signs -the "blanching" sign in the palm, and knuckle changes -have been described. A new classification of operative interventions is described according to the approach to a) the skin, b) the fascia and c) the joints. The operative experience and long term results, using an evolution of techniques, have been reviewed in a series of 100 patients. Dupuytren's Disease is viewed as a process akin to wound healing which involves not only the palmar fascia, as described by Dupuytren, but many of the connective tissues of the hand including the dermis of the skin. The distribution of the pathological tissue is not random, but dictated by lines of tension or stress concentrations transmitted through certain anatomical pathways. Movement of the hand may be the stimulus to the propagation of the contracture once it has commenced. Treatment has been found to be generally not curative, but affording only temporary release. A less extensive and more precise operative approach has been developed. The values of minimal surgery and maximal rehabilitation are stressed

Les jeunes filles de Prosper Menière qui firent tourner beaucoup de têtes

Après la publication dans une revue anglo-saxonne d’un article consacré à la carrière de Prosper Menière, il nous a semblé utile, pour revenir sur quelques approximations, de demander à un biographe, auteur d’un livre consacré à l’éponyme des vertiges, une mise au point historiquement documentée qui, au-delà des spécialistes, oto-rhino-laryngologistes et neurologues, devrait intéresser l’ensemble des lecteurs de médecine/sciences

The motor function measure to study limitation of activity in children and adults with Charcot-Marie-Tooth disease

AbstractObjectiveTo study the applicability and responsiveness of the motor function measure (total score and sub-scores D1, D2 and D3) in patients with Charcot-Marie-Tooth disease.Patients and methodsTwo hundred and thirty-three patients aged 4–86 years were included in the descriptive study. Scores and sub-scores were analyzed by age and by disease subtypes. Sensitivity to change (responsiveness) was estimated in patients having had at least two evaluations with at least six months between the first and the second.ResultsMotor function measure scores decrease with age, especially sub-scores D1 and D3. There were no significant differences between the scores according to type of Charcot-Marie-Tooth disease. The scores were significantly higher for ambulatory than for non-ambulatory patients. Significant responsiveness was demonstrated only in type 2 Charcot-Marie-Tooth disease.Discussion/conclusionsOur results suggest that, especially for D1 and D3 sub-scores, the motor function measure is a reliable and valid outcome measure that can be usefully applied in longitudinal follow-up. Studies of longer duration could demonstrate its responsiveness in other Charcot-Marie-Tooth disease subtypes

Les nouveaux médicaments du marché suisse : Typologie des nouvelles références de la liste des spécialités

Contexte : L’étude a pour but de donner une information sur la structure de l’offre en nouveaux médicaments basée sur leurs caractéristiques pharmaceutiques, en particulier s’il s’agit d’une nouvelle substance, d’une diversification de la présentation d’un médicament déjà commercialisé ou d’une alternative commerciale. Ce rapport ne se prononce pas sur la valeur ajoutée du point de vue thérapeutique et n’entre pas dans les données pharmacologiques ou cliniques. Il décrit, dans une perspective qui pourrait être celle du prescripteur, comment est constituée l’offre en nouveaux médicaments à une période donnée. Depuis plus d’une décennie, les médias titrent sur un ralentissement du nombre de nouvelles molécules et les difficultés du secteur pharmaceutique à trouver un relais de croissance suffisant avec des médicaments innovants pour pallier la perte des brevets. Et pourtant, chaque année, ce sont quelque 600 nouvelles références qui sont inscrites sur la liste des spécialités (LS) et près de 5000 médicaments qui obtiennent une autorisation ou un renouvellement d’autorisation de mise sur le marché en Suisse. De cet apparent paradoxe est née une curiosité: que sont ces nouveaux médicaments? Quelles sont leurs caractéristiques pharmaceutiques, quelles maladies concernent-ils ? Si la question intéresse moins les spécialistes, qui connaissent avec précision les tendances et développements du marché des médicaments, elle est pertinente pour les personnes intéressées à la politique de santé mais non spécialistes des médicaments pour qui cette information n’est pas aisément accessible. Les documents existants apportent en effet une information générale sur le marché des médicaments, mais ne permettent pas de se faire une idée des caractéristiques des produits nouvellement entrés sur le marché suisse au cours d’une période donnée. Objectifs : L’étude a pour but de donner une information sur la structure de l’offre en nouveaux médicaments basée sur leurs caractéristiques pharmaceutiques, en particulier s’il s’agit d’une nouvelle substance, d’une diversification de la présentation d’un médicament déjà commercialisé ou d’une alternative commerciale. Ce rapport ne se prononce pas sur la valeur ajoutée du point de vue thérapeutique et n’entre pas dans les données pharmacologiques ou cliniques. Il décrit, dans une perspective qui pourrait être celle du prescripteur, comment est constituée l’offre en nouveaux médicaments à une période donnée. Outre son caractère informatif, cette étude développe un outil de classification qui constitue une base de travail en vue d’analyses futures concernant, par exemple, la diffusion des nouveaux médicaments sur le territoire suisse ou selon le type de prestataires. Il permettra par exemple de voir si certaines régions ou prestataires adoptent plus rapidement certains types de nouveautés et contribuera à éclairer les différences dans les pratiques de prescription