18 research outputs found
Imagerie des fistules arterio-veineuses durales a drainage veineux peri -medullaire
Les fistules durales rachidiennes Ă drainage veineux pĂ©rimĂ©dullaire constituent une pathologie dâindividualisation rĂ©cente. Câest les plus frĂ©quentes des malformations vasculaires vertĂ©bromĂ©dullaires,elles se prĂ©sentent sous la forme dâune myĂ©lopathie spastique progressive chez un sujet de plus de 40 ans. A partir dâune Ă©tude rĂ©trospective des donnĂ©es cliniques et explorations radiologiques dâune sĂ©rie de 11 cas en IRM et artĂ©riographie mĂ©dullaire, nous avons recensĂ© lâensemble des signes radiologiques qui orientent le diagnostic. LâIRM a montrĂ© un hypersignal T2 centromĂ©dullaire de façon constante ainsi que des vaisseaux pĂ©rimĂ©dullaires pathologiques. Lâangiographie mĂ©dullaire reste lâexamen clĂ© pour le diagnostic. Elle a permit de montrer dans dix cas le shunt artĂ©rio-veineux ainsi que ses affĂ©rences artĂ©riels et son retour veineux, permettant de planifier le traitement. Huit patients ont Ă©tĂ© pris en charge chirurgicalement avec exclusion de la fistule suivie dâune amĂ©lioration clinique. Lâimagerie joue aussi un rĂŽle important dans le suivi postthĂ©rapeutique. LâIRM permet de mettre en Ă©vidence la disparition progressive des anomalies initiales, signede lâefficacitĂ© du traitement. Les fistules artĂ©rio-veineuses Ă drainage veineux pĂ©rimĂ©dullaire sont une pathologie qui reste encore mĂ©connue. La connaissance de tous ces Ă©lĂ©ments dâimagerie est fondamentalepour un diagnostic et une prise en charge prĂ©coces, seuls garants dâune bonne Ă©volution aprĂšs traitement
Progressive painless lower limbs weakness in a dialyzed patient: undiagnosed tertiary syphilis: a case report
An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3
Background
Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern.
Methods
All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing.
Results
Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family.
Conclusion
A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family
Recommended from our members
Narrowing the gap for hematopoietic stem cell transplantation in the East-Mediterranean/African region: comparison with global HSCT indications and trends.
Hematopoietic Stem Cell Transplantation (HSCT) activity was evaluated in the African (AFR)/EMRO region and compared to the global activity for the years 2006-2013. Data were obtained from 1570 teams in the 6 WHO continental regions. Of these, 29 (1.85%) of all teams were active in 12 of the 68 AFR/EMRO countries. They reported 2.331 (3.3%) of the worldwide 71.036 HSCT, and a transplant rate of 32.8 (TR; HSCT/10 million inhabitants; worldwide 128.5). This reflects still the lowest regional TR despite an increase of 90% since 2006. HSCT activity in AFR/EMRO countries was characterized by a higher use of allogeneic compared to autologous HSCT, an almost exclusive use of family donors, including haploidentical family donors. These findings contrast with the prevalence of autologous over allogeneic HSCT, and a higher frequency of unrelated HSCT in other parts of the world. Of note, the increase by 200% in HSCT for hemoglobinopathies from 2006 to 2013 (72 per year) in the AFR/EMRO region. This reflects the specific role of HSCT for these disease categories with high prevalence and incidence in the AFR/EMRO region. This report provides information for the competent authorities to foster adequate infrastructure. It urges transplant organization to optimize their cooperation
Les hemangiomes vertebraux agressifs
Background Vertebral haemangiomas are benign tumors rarely symptomatic.
Aggressive formes represents less than 1% of all cases. Medical imaging
allows both diagnosis and evaluation of the agressivity . Objective
The purpose is to assess the role of radiology, embolisation,
percutaneous vertebroplasty , radiotherapy and surgery in diagnosis and
treatment of vertebral hemangioma. Methodology This retrospective
stydy reports our experience about five patients . In all of them
radiographies, CT and an RMI has been performed . Results The average
age was 20 years. The symptomatology was made of a progressive medullar
compression in all the cases. Vertebral haemangiomas were localised at
the cervical spine C4 in one case and at dorsal ( D3-D9) in the 4 other
cases. Radiographies showed the classic vertically striated vertebra.
MRI revealed heterogenous vertebras with empty signal zones and others
of hyper signal or iso signal in T1 increased in T2. Epidural component
was presenting the same radiological characterstics as the vertebral
lesions. Two of our patients had an embolization before surgery.
Conclusion Vertebral haemangiomas diagnosis is easy with radiological
criteria by analysing the architecture of the lesion and its epidural
spreading . It allows establishing an agressivity score that guides the
therapeutic attitude. The treatment attitude we adopt associate
embolization, vertebroplasty and surgery when there epidural space is
invaded