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Biomedical subjects

B Puech

Publications and source records attributed to B Puech.

At least 19 recordsLinked to original sources
PubMed2001

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001.

Base Sequence↗
PubMed2001

[Kjellin syndrome].

A previously healthy 30-year-old woman who had cognitive impairment since childhood suddenly developed progressive spastic paraparesis. Visual impairment and characteristic retinal macular spots supported the diagnosis of Kjellin syndrome. This disease, probably transmitted by autosomal recessive inheritance, is seldom observed in clinical practice. We describe the characteristics of Kjellin syndrome and the differential diagnosis, including other macular changes associated with spastic paraparesis.

Adult↗
PubMed1999

North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.

PURPOSE: We previously reported linkage of North Carolina macular dystrophy in a single isolated family to a broad region on chromosome 6q16. In order to refine the localization of the MCDR1 gene (North Carolina macular dystrophy), additional families with this disease and new markers were studied. METHODS: We ascertained 10 families with the North Carolina macular dystrophy phenotype (MCDR1). These families were of various ethnic and geographic origins such as Caucasian, Mayan Indian, African-American, French, British, German, and American of European decent. Two hundred thirty-two individuals in these families underwent comprehensive ophthalmic examinations and blood was collected for genotyping. One hundred seventeen were found to be affected. Linkage simulation studies were performed. Two-point linkage, haplotype analysis, and multipoint linkage was performed using VITESSE and FASTLINK. HOMOG was used to test for genetic heterogeneity. RESULTS: The clinical features were consistent with the diagnosis of North Carolina macular dystrophy in all families. Multipoint linkage analysis indicates that the MCDR1 gene is in the interval between D6D249 and D6S1671 with a maximum LOD score of 41.52. There was no evidence of genetic heterogeneity among the families studied. Families 765, 768, 772, 1193, and 1292 shared the same chromosomal haplotype in this region. CONCLUSIONS: This is the largest single data set of families with the MCDR1 phenotype. The single large family from North Carolina continues to be informative for the closest flanking markers and alone supports the minimal candidate region as suggested by previous studies. There remains no evidence of genetic heterogeneity in this disease. Most of the American families appear to have descended from the same ancestral mutation. The remaining families could each represent independent origins of the mutation in the MCDR1 gene.

Adolescent↗
PubMed1997

North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.

PURPOSE: To determine if a family in France, which manifests an autosomal dominant macular dystrophy, has North Carolina macular dystrophy (MCDR1) and to determine its possible molecular genetic relationship with the original North Carolina family. METHODS: A family from Northern France with a macular dystrophy underwent comprehensive ophthalmic examinations and were ascertained for genetic studies. Blood collection and examinations were performed on 38 individuals. Fundus photographs with a hand held KOWA camera were obtained on affected subjects. DNA was extracted and genotyping performed using new microsatellite genetic markers, which have recently been found in the MCDR1 (North Carolina macular dystrophy) region. Standard two - point linkage and haplotype analysis was performed. RESULTS: Eleven individuals were found with the clinical manifestations of North Carolina macular dystrophy. Two - point linkage analysis generated a maximum peak LOD score of 4.5 with a recombination of 0% between D6S1717 and the macular dystrophy locus in the French family. The haplotype associated with the disease is, however, different from that of the original North Carolina family. CONCLUSIONS: These findings indicate that the macular dystrophy gene in this French family maps to the same region as that of North Carolina macular dystrophy (MCDR1) locus but that independent mutations are involved. The disease in the French family is clinically and genetically similar to North Carolina macular dystrophy. Therefore MCDR1 occurs in various ethnic groups, is present world-wide, and there remains no evidence of genetic heterogeneity for this clinically distinct form of macular degeneration.

Adolescent↗
PubMed1996

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

Alström syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy, obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the charts of eight patients followed for periods of 2 to 22 years, we established the natural history of this syndrome during childhood. Five patients, in four families, were seen between the ages of 3 weeks and 4 months with a dilated cardiomyopathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented in the eight patients between the ages of 5 months and 15 months. In all patients, electroretinography initially showed a severe cone impairment with mild (2/8) or no (6/8) rod involvement. Electroretinograms, obtained again at ages 9 to 22 years for four patients, revealed extinguished rod-and-cone responses. Obesity developed during childhood in seven patients, in at least three of them before age 2 years. Hearing impairment (5/8) and diabetes/glucose intolerance (4/8) were diagnosed at the end of the first decade or during the second decade. This constellation of features should facilitate early diagnosis of the syndrome.

Adolescent↗
PubMed1995

Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region.

The gene involved in juvenile retinoschisis (RS) has previously been localized, by genetic linkage analyses, to Xp22.1-p22.2, between DXS274 and DXS43/DXS207; it is closely linked to the latter markers. From our recent data, this interval represents a genetic distance of approximately 10 cM. In the present study, we have studied 14 French families with X-linked juvenile RS by using four CA polymorphisms that are closely linked to the RS locus and that have recently been included in an Xp22.1-p22.2 high-resolution map. Complete cosegregation with the disease locus was observed for three of them, DXS207, DXS418, and DXS999, which further confirms the locus homogeneity for RS and the close linkage to this region. One recombinant was found with the most proximal marker, AFM291wf5, thereby defining this marker as the new proximal boundary of the candidate region for RS. Under the assumption that DXS207 and DXS43 constitute the distal boundary, the present study further reduces the region containing the disease gene to a interval of 3-4 cM. The results reported here should facilitate the eventual cloning of the RS gene.

Chromosome Mapping↗
PubMed1993

[Vitreoretinochoroidal heredo-dystrophy, microcornea, glaucoma and cataract].

Vitreoretinochoroidopathy with microcornea, glaucoma and cataract must be considered to be a distinctively autosomal dominant affection. The authors present evidence in the form of 18 carriers of the same anomaly detected with a pedigree extending up to six generations. Microcornea and vitreoretinochoroidal dystrophy are the prime characteristics; hypertonia and cataract are induced complications. The syndrome may be attributed to a hereditary dysgenesis affecting the anterior part of the globe with trabecular and preequatorial corneal alterations. The dystrophy has a slow development as shown by the clinical and electroretinographic course. Present treatment only consists of controlling ocular hypertonia and cataract.

Adolescent↗
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↗