Vuillaumier-Barrot S.,Assistance Publique Hopitaux de Paris |
Vuillaumier-Barrot S.,French Institute of Health and Medical Research |
Bouchet-Seraphin C.,Assistance Publique Hopitaux de Paris |
Chelbi M.,Assistance Publique Hopitaux de Paris |
And 29 more authors.
American Journal of Human Genetics | Year: 2012
Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a "cobblestone" brain surface and ventricular enlargement. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal-recessive diseases characterized by cerebral, ocular, and muscular deficits. These include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN, and FKRP identified these diseases as alpha-dystroglycanopathies. Our exhaustive screening of these six genes, in a cohort of 90 fetal cases, led to the identification of a mutation in only 53% of the families, suggesting that other genes might also be involved. We therefore decided to perform a genome-wide study in two multiplex families. This allowed us to identify two additional genes: TMEM5 and ISPD. Because TMEM has a glycosyltransferase domain and ISPD has an isoprenoid synthase domain characteristic of nucleotide diP-sugar transferases, these two proteins are thought to be involved in the glycosylation of dystroglycan. Further screening of 40 families with cobblestone lissencephaly identified nonsense and frameshift mutations in another four unrelated cases for each gene, increasing the mutational rate to 64% in our cohort. All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. © 2012 The American Society of Human Genetics.
PubMed | Center Hospitalier Of Vienne and Center Hospitalier Of Troyes
Type: Journal Article | Journal: Annales de cardiologie et d'angeiologie | Year: 2016
Heart failure was a public health problem for one million of French patients. Patients are particularly concerned in rehospitalisation for this chronic pathology. A specific healthcare network was created to take care of patients with heart failure directly at home. This healthcare network (named VISage) brings a specific and adapted monitoring in heart failure. The main of this study was to evaluate the impact of healthcare network in rehospitalisation rate for heart failure of patients.We conducted a retrospective cohort study with patients hospital files of the CH Vienne. Patients who were included in our healthcare network (VISage) were screened. Primary endpoint was 30days, 6months, and 1year rehospitalisation rate for heart failure before and after using healthcare network.One hundred and four patients with comorbidities were included between February 2009and November 2015. A significant reduction of rehospitalisation rate for heart failure was observed before and after network: 0.65 (0.52) vs. 0.17 (0.43) 30days, 1.17 (0.74) vs. 0.42 (0.71) at 6months and 1.35 (0.95) vs. 0.47 (0.74) at 1year (P<0.0001). Results were significant for global rehospitalisation rate too. No significant differences were shown on hospital length of stay.Coordinated healthcare by a specific network at home for elderly is benefic for the rehospitalisation rate.
PubMed | Center Hospitalier Of Troyes, Service de medecine interne, Center Depidemiologie Of Sante Publique Des Armees and Institute du bien vieillir
Type: | Journal: Geriatrie et psychologie neuropsychiatrie du vieillissement | Year: 2016
As our population aging increases, it requires a particular attention from the health system. Indeed, elderly are often frail, with several diseases and presenting high risk of adverse drug accident. Prescribing appropriately to the elderly has become an important matter. Hospitalization and consultation with the general practitioner are key moments for drug prescription. However, their real impact on background treatments of this population has been barely evaluated. A retrospective descriptive study was conducted with 300 patients over 65 years old, hospitalized at the Laveran military hospital in Marseille. Treatment modifications, consecutive to hospitalization and to the first consultation with the general practitioner, were identified and analyzed. We found an average prescription of 5.93 drugs in prehospital period and 66% of the patients with polypharmacy. Drugs for cardiovascular system were the most prescribed and the most modified. Hospitalization generated a rate of modification by prescription of 28.5% and the consultation with the general practitioner following this hospitalization led to further change in 48% of cases. Beside the important prevalence of patients with polypharmacy, this study shows that hospitalization entails a significant change in background treatments in that population at risk. Therefore, it is important to have a consensus in the re-evaluation of these treatments, in order to prevent the iatrogenic risk.
PubMed | Center Hospitalier Of Troyes
Type: Case Reports | Journal: Nephrologie & therapeutique | Year: 2015
Watermelon stomach or gastric antral vascular ectasia (GAVE) syndrome is an uncommon cause of sometimes severe upper gastro-intestinal bleeding. Essentially based on a pathognomonic endoscopic appearance, its diagnosis may be unrecognised because mistaken with portal hypertensive gastropathy, while treatment of these two entities is different. Its etiopathogeny remains still unclear, even if it is frequently associated with different systemic illnesses as hepatic cirrhosis, autoimmune disorders and chronic renal failure. The mechanism inducing these vascular ectasia may be linked with mechanical stress on submucosal vessels due to antropyloric peristaltic motility dysfunction modulated by neurohormonal vasoactive alterations. Because medical therapies are not very satisfactory, among the endoscopic modalities, argon plasma coagulation seems to be actually the first-line treatment because the most effective and safe. However, surgical antrectomy may be sometimes necessary. Recently GAVE syndrome appeared as a new adverse reaction of imatinib mesylate, one of the tyrosine kinase inhibitors used in chronic myeloid leukemia, and we report here the observation of such a pathology in one patient treated at the same time by haemodialysis and by imatinib mesylate for chronic myeloid leukemia.
PubMed | Center Hospitalier Of Troyes
Type: Journal Article | Journal: Nephrologie & therapeutique | Year: 2016
Renal cell carcinoma can metastasize to several locations but rarely in muscles. However, this possibility must never be overlooked because muscle metastases may occur a very long time after the initial nephrectomy. So the post-operative follow-up, according to the recommendations, with thoraco-abdomino-pelvic imaging (computed tomography or nuclear magnetic resonance) allowing to detect metastases, including muscle metastases in the trunk, does not have to neglect the metastases located in the members. This search is based upon a thorough clinical examination, completed by targeted imaging in case of symptoms and/or palpable mass.
PubMed | University of Technology of Troyes and Center Hospitalier Of Troyes
Type: Journal Article | Journal: Journal of medical systems | Year: 2016
Emergency department (ED) have become the patients main point of entrance in modern hospitals causing it frequent overcrowding, thus hospital managers are increasingly paying attention to the ED in order to provide better quality service for patients. One of the key elements for a good management strategy is demand forecasting. In this case, forecasting patients flow, which will help decision makers to optimize human (doctors, nurses) and material(beds, boxs) resources allocation. The main interest of this research is forecasting daily attendance at an emergency department. The study was conducted on the Emergency Department of Troyes city hospital center, France, in which we propose a new practical ED patients classification that consolidate the CCMU and GEMSA categories into one category and innovative time-series based models to forecast long and short term daily attendance. The models we developed for this case study shows very good performances (up to 91,24 % for the annual Total flow forecast) and robustness to epidemic periods.
PubMed | Center Hospitalier Of Troyes
Type: Case Reports | Journal: Annales de dermatologie et de venereologie | Year: 2016
Crusted scabies, also known as Norwegian scabies, is a rare and extremely debilitating form of Sarcoptes scabiei var.hominis infestation that generally occurs in immunosuppressed patients. Herein, we report a historic and fatal case.A 52-year-old woman was admitted to the emergency department presenting crusted dermatitis together with extreme deterioration of her general condition. Her general practitioner had initiated dermo-corticosteroid therapy for suspected atopic dermatitis two months earlier, and she had been confined to bed for the previous 10days. Her son presented pruritus that became worse at night. On examination the patient was moaning, dehydrated and confused and her entire skin was hyperkeratotic, with very thick, yellowish, cracked crusts covering 40% of her body. Tests indicated severe water and electrolytic disorders as well as Staphylococcus aureus bacteremia. A tape test established the diagnosis of crusted scabies. The severity was gradeIII on the Davis clinical grading scale. The patient showed signs of multi-organ failure and was transferred to intensive care, but she died during the night.This case is remarkable for its historic severity. In France, scabies infestation is a re-emerging disease and has been a public health priority since 2012. The rare hyperkeratotic form is not fully understood and frequently diagnosed late, in some cases with a fatal outcome.