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Biomedical subjects

B Puech

Publications and source records attributed to B Puech.

At least 19 recordsLinked to original sources
PubMed1991

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France].

The authors present part of a study concerning inherited retinal dystrophies as recorded among the inhabitants of the Nord-Pas-de-Calais region of France. This retrospective study, covering eighteen years (from 1972 to 1989) and covering a population of nearly 4 millions inhabitants, has enabled us to assess the prevalence of each disease. 1,660 cases have been detected and 650 pedigrees have been established. The spatial distribution of the patients in reference to their places of origin in relation to the spatial division of area into "communes" or districts roughly corresponded to the population density and revealed a few centres of dominant retinal dystrophies in rural areas. The analysis of the distribution and inheritance of the various forms of retinitis pigmentosa confirmed the results obtained in other recent and similar studies carried out in other countries. The age pyramid of the detected cases followed that of the population under surveillance. Detection of all dystrophies increased up to the age of 35, then followed the normal decreasing pattern for older generations. As for retinoschisis, detection usually took place in the first fifteen years after birth; for Stargardt's disease, it has occurred up to the age of 20 and for Best's dystrophy, the process was the most extensive and the slowest to appear. The global number of dystrophies studied, corresponded to a prevalence of 1:1,490, which allowed us to estimate that the number of cases in France was 33,800. If we apply the phenomenon to all the populations of the European Community, we must consider that more than 300,000 patients are now affected by disabling hereditary retinal dystrophies.

Cohort Studies↗
PubMed1990

[Progressive cone dystrophy: electrophysiological changes in female carriers].

The authors evaluated a family with X-linked progressive cone dystrophy and special attention was paid to female carriers. Twenty-four members of the family were examined. One generation II--male and five generation III--males were affected. Two generation II--females who, in each case had affected children, but who were asymptomatic, underwent electrophysiological evaluations. The electroretinograms were found to be subnormal in both patients with alterations of cone-mediated responses and color vision. The discovery of abnormalities in female carriers emphasized the necessity of systematically performing electroretinography, together with color vision testing and pedigree examination, when assessing so called sporadic cone dystrophy or in cases where the modes of inheritance are not clear.

Adolescent↗
PubMed1990

Biointegration of massive bone allografts: imaging and histological studies in cat.

A study was carried out in a cat model to compare three imaging methods (X-ray, bone scintigraphy (BS) and magnetic resonance imaging (MRI] in order to assess the healing of bone allografts. X-ray remains the first technique to proceed, for morphological information and control of devices. BS is very sensitive although unspecific and difficult to quantify in exploration of bone reconstruction. It may be a useful complement of X-ray methods in some pathological circumstances (stress fracture, infection, non union). MRI is a very sensitive exploration of the bone marrow, but not of the cortical bone. In its present state it is of little value in bone graft imaging because of its low specificity and because of metallic artefacts (material, micro particles).

Animals↗
PubMed1989

Did Mozart have a chronic extradural haematoma?

When Mozart died at the age of 36, was he suffering from the belated complications of a calcified extradural haematoma? This theory took shape during the identification process of the skull owned by the Mozarteum, when the print of calcified extradural haematoma was discovered on the left inner temporoparietal calvarial surface of the skull. This print looks like a rosette, with three distinct concentric areas. The first outer area is striated, the second middle one is granular and scattered with bony deposits, the third central one is marked with vascular grooves.

Adult↗
PubMed1989

X-shaped macular dystrophy with flavimaculatus flecks.

Two families showed a retinal pigment epithelial dystrophy characterized by an X-shaped yellowish macular lesion and numerous flavimaculatus retinal flecks. Nine members were variously affected. The condition was bilateral, had a dominant inheritance and started in middle age with a slow-developing macular lesion. Visual functions were often minimally disturbed for 2 or 3 decades. The flavimaculatus flecks which differed in number appeared only as secondary phenomena yet increased in number and size. At the onset of the disease, the ERG and EOG as well as colour vision were normal and became altered only in the course of a very slow process.

Adult↗
PubMed1989

[Leber's optic neuropathy. Future prospects].

Leber's optic neuropathy is a maternally inherited disease. Its transmission does not correspond to Mendelian principles and two hypothesis about the role of cytoplasmic transmission are discussed. The role of a virus or a mutation mitochondrial DNA, maternally transmitted, are possible. However if not definite conclusion can be, actually, certified, there is a good hope to find a solution for this disease, in a near future.

DNA, Mitochondrial↗
PubMed1989

Craniofacial dysmorphism in Mozart's skull.

Mozart's craniofacial dysmorphism shown in his portraits and in the skull held by the Mozarteum in Salzburg (Austria) helps to document the role of pathology in human identification. The specific syndrome is formed by a premature synostosis of the metopic suture (PSMS) in association with an abnormally shaped skull.

Austria↗
PubMed1989

[The course of fundus flavimaculatus in Stargardt disease].

From the study of twelve of Fundus Flavimaculatus and after recording the main characteristics of this disease the authors try to distinguish the "classical juvenile" form of Fundus Flavimaculatus form the "tardy" form of Fundus Flavimaculatus. This last one would affect the adult and have a better prognosis.

Age Factors↗
PubMed1977

[Isotopic criteria for the assessment of the effects of lumbar sympathectomy (author's transl)].

The authors present a work intended to assess the effects of lumbar sympathectomy using radioactive microspheres. These contain 99mTe and are injected into the femoral artery. The distribution of radioactivity is then measured at the lower limb with a gamma camera linked to a computer. Seventeen patients were tested before and after lumbar sympathectomy. It appears from this short series that lumbar sympathectomy causes a redistribution of the radioactive material directed towards the extremities, mainly the feet.

Aged↗
PubMed1975

[Stargardt's disease and fundus flavimaculatus].

From their sixty two personnal observations and a study of literature cases, the authors demonstrate that the ophthalmoscopic fluoroscopic and functionnal aspects of macular lesions are strictly identical in Stargardt disease and in Fundus Flavimaculatus. Their transmission is also identical, generally autosomal and recessive, more rarely dominant. Flavimaculate lesions situated in perimacular or inperipheric area may coexist in the same family, and certainly correspond to variable forms of expressivity of a unique gene. The authors discuss the nosologic problems brought by these two affections and other juvenile macular degenerations. Their conclusions are as follows: The same disease may present three different forms: -- Pure Stargardt disease; -- Stargardt disease with perimacular flavimaculate crown; -- Stargardt disease with peripheric Fundus Flavimaculatus.

Adolescent↗
PubMedDate not supplied

Identification of the cranium of W.A. Mozart.

In 1801 at the cemetery in Vienna, Austria, the skull of W.A. Mozart was exhumed (La Chronique Médicale, 13 (1906) 423), and now it has been examined for identification. The osteometrical and osteological findings correspond with the available data of W.A. Mozart. Superimposition gives evidence that craniofacial distinctiveness of the cranium is consistent with the portrait. Additional individual particularities caused by the premature synostosis of the metopic suture (PSMS) and a bone lesion are described.

Austria↗