Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 6 de 6
Filter
1.
Neuromuscul Disord ; 21(11): 782-90, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21727005

ABSTRACT

Dystroglycanopathies are a heterogeneous group of muscular dystrophies with autosomal recessive inheritance characterized by abnormal glycosylation of alpha-dystroglycan. The most severe phenotypes are Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) presenting with lissencephaly type II (LIS II) and in which muscular dystrophy is associated with mental retardation and eye abnormalities. To date, six distinct genes, POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE and recently in one case DPM3, have been shown to be involved in dystroglycanopathies. Genomic sequencing alone is still frequently used for diagnosis purpose, not allowing detection of intragenic rearrangements at the heterozygous state contrarily to RNA analysis, quantitative PCR and CGH array analysis. These latter methods enabled us to identify four new intragenic rearrangements in the LARGE gene in three fetuses with WWS, born to two unrelated families: deletion of exons 9-10 and duplication of introns 1-4 for the first family and deletion of exons 4 and 7 for the second one; and a deletion of the last six exons of the POMGNT1 gene in two unrelated MEB patients. Genomic dosage studies using emerging tools such as CGH array should be included in routine molecular analysis of dystroglycanopathies, not only for the screening of the LARGE gene in which this kind of mutation seems to be more frequent than point mutations, but also for the other involved genes, especially in severe clinical cases.


Subject(s)
Gene Duplication/genetics , N-Acetylglucosaminyltransferases/genetics , Sequence Deletion/genetics , Walker-Warburg Syndrome/genetics , Child , Consanguinity , DNA Mutational Analysis , Exons/genetics , Fetus , Humans , Male , Microsatellite Repeats/genetics , Phenotype , Sequence Analysis, RNA , Walker-Warburg Syndrome/physiopathology
2.
Neuromuscul Disord ; 19(3): 182-8, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19179078

ABSTRACT

Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker-Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially isolated in one case and muscular dystrophy. Immunohistochemical studies and haplotype analysis led us to search for mutations in FKTN. Two patients (two sisters) presented with congenital muscular dystrophy, mental retardation, and posterior fossa malformation including cysts, and brain atrophy at Brain MRI. The other two patients had normal intelligence and brain MRI. Sequencing of the FKTN gene identified three previously described mutations and two novel missense mutations. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP.


Subject(s)
Genetic Predisposition to Disease/genetics , Intellectual Disability/genetics , Membrane Proteins/genetics , Muscular Dystrophies/genetics , Mutation/genetics , Nervous System Malformations/genetics , Adult , Atrophy/genetics , Atrophy/pathology , Atrophy/physiopathology , Brain/abnormalities , Brain/pathology , Brain/physiopathology , Child , Creatine Kinase/analysis , Creatine Kinase/blood , DNA Mutational Analysis , Fatal Outcome , Female , Genetic Markers/genetics , Genetic Predisposition to Disease/ethnology , Genotype , Humans , Intellectual Disability/pathology , Intellectual Disability/physiopathology , Male , Muscular Dystrophies/pathology , Muscular Dystrophies/physiopathology , Nervous System Malformations/pathology , Nervous System Malformations/physiopathology , Phenotype , Syndrome , White People , Young Adult
3.
Radiat Prot Dosimetry ; 117(4): 419-24, 2005.
Article in English | MEDLINE | ID: mdl-15985499

ABSTRACT

A set of measurements have been conducted in order to determine the annual effective dose resulting from the ingestion of natural radionuclides present in eight different brands of bottled water commercialised in Tunisia. Using high-resolution gamma spectrometry technique, we have noted the presence of the following radionuclides: 214Bi, 226Ra, 228Ac, 212Pb, 235U and 40K. For all classes of age, only the radium concentration was found to be significant in the calculation of the equivalent dose. Some of the studied samples exceeded the reference level of 0.1 mSv y(-1) of effective dose.


Subject(s)
Drinking , Mineral Waters , Radioisotopes/analysis , Water Pollutants, Radioactive/analysis , Gamma Rays , Tunisia
4.
Ann Chir ; 128(6): 388-90, 2003 Jul.
Article in French | MEDLINE | ID: mdl-12943836

ABSTRACT

Retroperitoneal bronchogenic cysts are rare and those located in the diaphragm are exceptional. We describe an additional case of bronchogenic cyst of the left crus of diaphragm. Diagnosis of a diaphragmatic lesion was confirmed during laparotomy and complete resection was successful. Final diagnosis was done on pathology.


Subject(s)
Bronchogenic Cyst/surgery , Diaphragm/pathology , Bronchogenic Cyst/diagnosis , Bronchogenic Cyst/pathology , Diagnosis, Differential , Humans , Laparotomy , Male , Middle Aged
5.
Article in French | MEDLINE | ID: mdl-12293314

ABSTRACT

PIP: Gynecologist Dr. Sami Ben Ghachem has practiced at the Regional Hospital of Beja, Tunisia, for 20 years. The first tubal ligation had already been performed before the creation of the National Office of the Family and Population and the official launching of the family planning program. 500-600 minilaparotomies were performed per year. The first laparoscopy was performed in 1976, and in 1977 a record 1152 tubal ligations were performed. Some 23,200 women have now undergone the procedure, out of a population of around 70,000 fertile-aged women in the governorate. Along with the IUD, sterilization has contributed to the achievement of one of the lowest natural increase rates in Tunisia, 1.18%, compared to the national average of 1.70%. Sterilization and IUDs have been the appropriate methods for the largely rural population. As the region becomes more developed and educational standards rise, the demand for different maternal-child health services also rises. An integrated approach has been followed at the Regional Hospital. An infertility service allowed the program to gain the confidence of the population. The hospital has participated in several training programs with Johns Hopkins University and has provided training in tubal ligation. The number of births declined from 8651 in 1981 to 5600 in 1996 in the governorate of Beja, a decline of about 30%. The regional hospital has been provided facilities for ultrasound and is expected to offer mammography in the near future. In early 1998, the governorate of Beja will have a new maternity hospital with a neonatology clinic that will allow it to become a referral center for all the governorates in northwest Tunisia.^ieng


Subject(s)
Health Planning , Maternal-Child Health Centers , Africa , Africa, Northern , Delivery of Health Care , Developing Countries , Family Planning Services , Health , Health Services , Middle East , Organization and Administration , Primary Health Care , Tunisia
SELECTION OF CITATIONS
SEARCH DETAIL
...