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101.
Gilles Morin Nadina Ortiz Bruechle Amrathlal Rabbind Singh Cordula Knopp Guillaume Jedraszak Miriam Elbracht Dominique Brémond‐Gignac Kathi Hartmann Henri Sevestre Peter Deutz Didier Hérent Peter Nürnberg Bernard Roméo Kerstin Konrad Michèle Mathieu‐Dramard Johannes Oldenburg Elisabeth Bourges‐Petit Yuequan Shen Klaus Zerres Halima Ouadid‐Ahidouch Jacques Rochette 《Human mutation》2014,35(10):1221-1232
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild hypocalcemia, muscle fatigue, asplenia, and ichthyosis. Using targeted sequencing and whole‐exome sequencing, we identified the c.910C > T transition in a STIM1 allele (p.R304W) only in patients and not in their unaffected family members. STIM1 encodes stromal interaction molecule 1 protein (STIM1), which is a finely tuned endoplasmic reticulum Ca2+ sensor. The effect of the mutation on the structure of STIM1 was investigated by molecular modeling, and its effect on function was explored by calcium imaging experiments. Results obtained from calcium imaging experiments using transfected cells together with fibroblasts from one patient are in agreement with impairment of calcium homeostasis. We show that the STIM1 p.R304W variant may affect the conformation of the inhibitory helix and unlock the inhibitory state of STIM1. The p.R304W mutation causes a gain of function effect associated with an increase in both resting Ca2+ levels and store‐operated calcium entry. Our study provides evidence that Stormorken syndrome may result from a single‐gene defect, which is consistent with Mendelian‐dominant inheritance. 相似文献
102.
Gilles Morin Nadina Ortiz Bruechle Amrathlal Rabbind Singh Cordula Knopp Guillaume Jedraszak Miriam Elbracht Dominique Brémond‐Gignac Kathi Hartmann Henri Sevestre Peter Deutz Didier Hérent Peter Nürnberg Bernard Roméo Kerstin Konrad Michèle Mathieu‐Dramard Johannes Oldenburg Elisabeth Bourges‐Petit Yuequan Shen Klaus Zerres Halima Ouadid‐Ahidouch Jacques Rochette 《Human mutation》2014,35(12):1542-1542
103.
Sofia Nene Lorant Gonczi Zsuzsanna Kurti Isabelle Morin Kelly Chavez Christine Verdon Jason Reinglas Rita Kohen Talat Bessissow Waqqas Afif Gary Wild Ernest Seidman Alain Bitton Peter Laszlo Lakatos 《World journal of gastroenterology : WJG》2020,26(7):759-769
BACKGROUND Emergency situations in inflammatory bowel diseases(IBD)put significant burden on both the patient and the healthcare system.AIM To prospectively measure Quality-of-Care indicators and resource utilization after the implementation of the new rapid access clinic service(RAC)at a tertiary IBD center.METHODS Patient access,resource utilization and outcome parameters were collected from consecutive patients contacting the RAC between July 2017 and March 2019 in this observational study.For comparing resource utilization and healthcare costs,emergency department(ED)visits of IBD patients with no access to RAC services were evaluated between January 2018 and January 2019.Time to appointment,diagnostic methods,change in medical therapy,unplanned ED visits,hospitalizations and surgical admissions were calculated and compared.RESULTS 488 patients(Crohn’s disease:68.4%/ulcerative colitis:31.6%)contacted the RAC with a valid medical reason.Median time to visit with an IBD specialist following the index contact was 2 d.Patients had objective clinical and laboratory assessment(C-reactive protein and fecal calprotectin in 91%and 73%).Fast-track colonoscopy/sigmoidoscopy was performed in 24.6%of the patients,while computed tomography/magnetic resonance imaging in only 8.1%.Medical therapy was changed in 54.4%.ED visits within 30 d following the RAC visit occurred in 8.8%(unplanned ED visit rate:5.9%).Diagnostic procedures and resource utilization at the ED(n=135 patients)were substantially different compared to RAC users:Abdominal computed tomography was more frequent(65.7%,P<0.001),coupled with multiple specialist consults,more frequent hospital admission(P<0.001),higher steroid initiation(P<0.001).Average medical cost estimates of diagnostic procedures and services per patient was$403 CAD vs$1885 CAD comparing all RAC and ED visits.CONCLUSION Implementation of a RAC improved patient care by facilitating easier access to IBD specific medical care,optimized resource utilization and helped avoiding ED visits and subsequent hospitalizations. 相似文献
104.
105.
L. Zerah C. Arena A.-S. Morin T. Blanchon J. Cabane L. Fardet 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2012
Background
In patients treated with systemic glucocorticoids (GCs), it is unknown if beliefs about the treatment are associated with level of reported adherence.Patients and methods
Cross-sectional study conducted in two departments of internal medicine during a six-month period. All patients receiving long-term GCs therapy were asked to fill in a questionnaire regarding their beliefs about (specific scale of the Beliefs about Medicines Questionnaire) and their adherence to (four-item Morisky-Green scale) GCs. Logistic regression analysis was used to assess association between beliefs about GCs and adherence to treatment.Results
One hundred and eighty one questionnaires were analysed (women: 79%, median age [IQR]: 47 [33–61] years, median duration of treatment: 18 [7–72] months, median daily dosage of prednisone equivalent: 10 [6–20] mg). Among these 181 patients, 83 (46%) reported a “concern” score equal to or higher than the “necessity” score. Nineteen percent of patients reported a low adherence level. In multivariate analysis, these patients were significantly younger (OR: 0.96 [0.93–0.98] per increasing year of age, P = 0.002) and reported more frequently a “concern” score higher than a “necessity” score (OR: 3.08 [1.27–7.46], P = 0.01) as compared to patients reporting a high adherence level.Conclusion
Informing patients about the “necessity” of GCs and taking into account their “concerns” about adverse events or their fear of becoming dependent on the medication may improve their adherence to treatment. 相似文献106.
S. Bouchikh J. Stirnemann V. Prendki R. Porcher H. Kesthmand A.-S. Morin P. Cruaud S. Rouaghe D. Farge O. Fain 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2012
Purpose
The recommended duration of pulmonary tuberculosis therapy is 6 months. For extrapulmonary tuberculosis, treatment duration depends on tuberculosis involvement and HIV status. The objective of this study was to describe the main characteristics of a cohort of extrapulmonary tuberculosis patients, to compare patients with a 6-month treatment to those with more than a 6-month treatment, and to analyze the compliance of medical centres with recommended duration of treatment.Methods
A retrospective cohort study of 210 patients with extrapulmonary tuberculosis was carried from January 1999 to December 2006 in two hospitals in the north-east of Paris. These patients were treated with quadruple therapy during two months, followed by dual therapy during 4 months (n = 77) or more (n = 66). The characteristics of each group were compared by uni- and multivariate analysis. The primary endpoint was the rate of relapse or treatment failure at 24-month follow-up after treatment completion.Results
No relapse was observed after 24 months of follow-up after the end of treatment in the two groups. In univariate analysis, patients with lymph node tuberculosis were more often treated for 6 months than at other sites of tuberculosis (respectively 61% versus 40.9%; P = 0.02); the decision of treatment duration was related to medical practices (79.2% treated 6 months in one hospital versus 20.7% in the other, P < 0.001); patients living in private residence were more often treated during 6 months than patients living in residence (24.2% versus 10.3%, P = 0.042). In multivariate analysis, only hospital (P = 0.046), sex (P = 0.007) and private residence were significantly different in each group.Conclusion
A period of 6 months seems to be sufficient to treat extrapulmonary tuberculosis (except for neuromeningeal localization). 相似文献107.
108.
109.
Tedrow VA Zelaya CE Kennedy CE Morin SF Khumalo-Sakutukwa G Sweat MD Celentano DD 《AIDS and behavior》2012,16(5):1217-1226
As community-level interventions become more common in HIV prevention, processes such as community mobilization (CM) are increasingly utilized in public health programs and research. Project Accept, a multi-site community randomized controlled trial, is testing the hypothesis that CM coupled with community-based mobile voluntary counseling and testing and post-test support services will alter community norms and reduce the incidence of HIV. By using a multiple-case study approach, this qualitative study identifies seven major community mobilization strategies used in Project Accept, including stakeholder buy-in, formation of community coalitions, community engagement, community participation, raising community awareness, involvement of leaders, and partnership building, and describes three key elements of mobilization success. 相似文献
110.
Emilie Morin France Berthelet John Weisnagel Martin Bidlingmaier Omar Serri 《Pituitary》2012,15(1):97-100
It has been suggested that treatment with adequate dose titration of pegvisomant, a GH antagonist, up to a maximum of 40 mg
daily, can achieve IGF-1 normalisation in virtually all patients with acromegaly. On the other hand, temozolomide (TMZ), an
alkylating cytostatic agent, has been reported to reduce pituitary tumour size and hormone hypersecretion in a small number
of aggressive pituitary macroadenomas. In this paper we report the case of a patient resistant to very high doses of pegvisomant
used in combination with somatostatin analogs (SSA) and to TMZ therapy. The patient, initially a 22 year-old man with an invasive
GH-secreting pituitary macroadenoma (IGF-1, 371% upper limit of normal), had active acromegaly despite a repeat transsphenoidal
surgery followed by radiotherapy and SSA (octreotide 800 μg sc daily) (IGF-1, 262% ULN). In combination with SSA, pegvisomant
was started at 20 mg daily and doses were titrated up to 60 mg daily. IGF-1 was moderately reduced and stabilized at 200%
ULN after 1 year of treatment. Serum pegvisomant level was 30,500 ng/l, the denaturalized GHBP concentration 1,120 pM and
the endogenous GH level was 220 μg/l. Pegvisomant was stopped and TMZ therapy was given for 5 cycles. However, the patient
reported an increase of acromegaly symptoms and the serum IGF-1 was raised to the same level prior to pegvisomant therapy.
Consequently, pegvisomant was tried again with doses up to 100 mg daily finally resulting in normalisation of serum IGF-1
level and improvement of acromegaly symptoms and patient well-being. We conclude that in some patients with severe acromegaly
refractory to multimodal therapy, biochemical control may be difficult to attain with conventional doses of pegvisomant or
TMZ therapy. 相似文献