RésuméLa recherche sur la neuroplasticité déclenchée par la thérapie du langage est relativement récente. Des principes de neuroplasticité issus de la recherche sur les animaux peuvent s’appliquer à la thérapie de l’aphasie avec l’objectif de favoriser le déclenchement de la neuroplasticité pouvant mener à la récupération fonctionnelle.Nous présentons des données probantes sur la neuroplasticité induite par la thérapie orthophonique. Nous nous penchons sur l’impact d’une thérapie spécifique, administrée selon les principes de neuroplasticité, sur la récupération du manque du mot observé chez des patients souffrant d’aphasie chronique. De plus, nous explorons l’impact de l’intervention orthophonique sur le niveau d’intégration de deux réseaux : le réseau du mode par défaut et le réseau canonique du traitement langagier.L’ensemble des résultats rapportés met en évidence les implications cliniques des études sur la connectivité fonctionnelle des réseaux, tant en ce qui concerne l’identification des meilleures approches d’intervention que les effets potentiels de la thérapie du langage sur d’autres domaines de la cognition. Dans l’avenir, la recherche sur l’interaction entre les thérapies et les changements neurofonctionnels permettra d’informer les cliniciens quant aux choix thérapeutiques les plus efficaces, en fonction des circuits cérébraux viables, en tenant compte des marqueurs d’efficacité observables avant de débuter les interventions.
Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members. Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease. The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information. The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family.
Background and Objectives: A pregnant female requested prenatal diagnosis for a congenital and complex eye disease segregating in her family. The three-generation pedigree of Romanian ethnic origin was suggestive of an X-linked inheritance, due to exclusively affected males and no father-to-son transmission. Affected individuals had bilateral optic nerve atrophy, microphthalmia, nystagmus, leukocoria, cataract, retinal detachment, eye tumors reported as retinoblastomas, moderate mental and motor retardation, and seizures. All efforts to obtain the detailed medical records of affected individuals were fruitless. Methods: The disease locus was mapped utilizing 78 microsatellite markers that span the X-chromosome at ~2 Mb intervals, followed by candidate genes analysis and mutations detection by Sanger sequencing. Results: Affected individuals share an ~10 Mb region between DXS1056 and GATA160B08 at Xp11.23-11.4. Candidate genes in this linkage interval included BCOR and NDP. Mutation screening identified a c.267C>A p.F89L mutation in the NPD gene in all affected individuals, previously described in a single unrelated Dutch family and speculated as causing Norrie disease. Conclusions: In retrospect, clinical symptomatology fits the Norrie disease phenotype. The reported retinoblastomas were most likely pseudogliomas characteristic of Norrie disease. Detection of the c.C267A p.F89L mutation in a second unrelated family confirms the pathogenic nature of the mutation for Norrie disease. Utilization of gene mapping through linkage analyses and candidate gene screening previously utilized exclusively for research applications, were applied at a diagnostic setting and were essential in deciphering the offending molecular defect and diagnosing a disease which due to lack of medical records and poor and misleading clinical history would have no chance of being diagnosed correctly. Clinical diagnosis and mutation identification were essential prerequisites for providing proper genetic counseling and prenatal diagnosis in this family.
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic kidney disease. It carries high lifetime morbidity not only due to chronic kidney disease, but also due to a higher risk of cardiovascular death. Multiple metabolic abnormalities associated with ADPKD including insulin resistance and hyperlipidemia as well as subclinical cardiovascular abnormalities, such as left ventricular hypertrophy (LVH), contribute to this cardiovascular risk. These conditions may manifest before evidence of worsening estimated glomerular filtration rate (eGFR). Renal oxidative stress also occurs early in the disease and is a driver of ADPKD progression. Animal models have shown that calorie restriction may mitigate these inflammatory processes. Further research is required to show whether attenuation of metabolic abnormalities associated with ADPKD may improve renal and cardiovascular morbidity. .
