Santiago de Compostela, Spain
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Fernandez-Rodriguez E.,University of Santiago de Compostela | Barreiro J.,University of Santiago de Compostela | Marazuela M.,Autonomous University of Madrid | Pereiro I.,CHUS | And 6 more authors.
Neuroendocrinology | Year: 2011

Objectives: To investigate the prevalence of pituitary stalk dysgenesis (PSD) in adult hypopituitary patients by describing the chronology of hormone deficiencies and their potential correlation with traumatic delivery, mutations in genes required for pituitary development and function and pituitary stalk visibility on MRI. Design: Retrospective and prospective study involving 231 hypopituitary patients, including 26 diagnosed with PSD. Clinical, biochemical and radiological studies were reviewed. Molecular analyses of HESX1, LHX4,PROP1 and POU1F1 genes were performed prospectively. Results: PSD was present in 11.2% of hypopituitary patients. PSD was diagnosed before 14 years of age in 46.2% of cases, between 14 and 18 years of age in 23%, and in adulthood in 30.8%. Perinatal complications or gene mutations were present in 26.9 and 4.3% of patients, respectively. At first assessment, 92.3% of patients had growth hormone (GH) deficiency. 26.9% presented as combined pituitary deficiencies and 7.6% as panhypopituitarism. Hormone deficiencies were progressive during follow-up in 84.6%. 96% progressed to multiple deficiencies and 46% to panhypopituitarism. No significant association was found between hormonal dysfunction and previous perinatal damage or breech delivery (p = 0.17), PROP1 mutations (p = 0.26) or pituitary stalk visibility on MRI (p = 0.52). No mutations in POU1F1, HESX1 and LHX-4 genes were detected. Conclusion: In this study, PSD prevalence in adult hypopituitary patients was 11.2%. Typical clinical presentation includes isolated or combined pituitary hormone deficiencies during the pediatric age, which usually progress to combined or complete hypopituitarism in adulthood. Phenotype is highly variable depending on hormone profile and age at onset. Copyright © 2011 S. Karger AG.


Xu H.,University of Montréal | Perez-Cuevas R.,Instituto Mexicano del Seguro Sosial | Xiong X.,Tulane University | Reyes H.,National Institute of Public Health | And 23 more authors.
American Journal of Obstetrics and Gynecology | Year: 2010

Objective: We sought to investigate whether prenatal vitamin C and E supplementation reduces the incidence of gestational hypertension (GH) and its adverse conditions among high- and low-risk women. Study Design: In a multicenter randomized controlled trial, women were stratified by the risk status and assigned to daily treatment (1 g vitamin C and 400 IU vitamin E) or placebo. The primary outcome was GH and its adverse conditions. Results: Of the 2647 women randomized, 2363 were included in the analysis. There was no difference in the risk of GH and its adverse conditions between groups (relative risk, 0.99; 95% confidence interval, 0.78-1.26). However, vitamins C and E increased the risk of fetal loss or perinatal death (nonprespecified) as well as preterm prelabor rupture of membranes. Conclusion: Vitamin C and E supplementation did not reduce the rate of preeclampsia or GH, but increased the risk of fetal loss or perinatal death and preterm prelabor rupture of membranes. © 2010 Mosby, Inc. All rights reserved.


News Article | November 15, 2016
Site: www.eurekalert.org

A study finds that smoking or being overweight makes it more difficult for patients with rheumatoid arthritis to achieve optimal control of inflammation and symptoms, despite standard of care treatment. American and Canadian researchers, who collected data on more than 1,100 patients at multiple sites, presented their findings at the American College of Rheumatology/Association of Rheumatology Health Professionals annual meeting on November 15 in Washington, DC. "Early, aggressive treatment to achieve remission is the primary goal of therapy and can be best achieved early on when treating patients with newly diagnosed rheumatoid arthritis, as early disease control is associated with improved long-term outcomes," said Vivian Bykerk, MD, senior investigator and director of the Inflammatory Arthritis Center of Excellence at Hospital for Special Surgery. "We have previously shown that individuals with excess weight are less likely to achieve sustained remission in the first three years after diagnosis. Here we explore the impact of smoking and being overweight or obese on the ability to achieve good control of symptoms and inflammation in men and women with rheumatoid arthritis." Data were collected at 19 sites across Canada as part of the CATCH (Canadian Early Arthritis Cohort) Study. The multicenter study included rheumatoid arthritis patients diagnosed within 12 months of symptom onset. Researchers looked at the patient's disease activity score, known as the DAS, when they entered the study and at follow-up visits. The DAS is based on the number of swollen and tender joints, a blood test that reflects inflammation, and the patient's own description of their arthritis symptoms over the prior week. After the initial enrollment, patients were seen by their rheumatologist as part of their usual care for follow up every three months in the first year, every six months in the second year, and annually thereafter. Data about their arthritis were collected at each visit. The researchers analyzed how gender, excess weight and smoking (current/former/never) affected symptoms when patients entered the study and over time. The study included 1,109 patients with a mean age of 54 at study onset. Almost all of them were being treated with methotrexate and/or another conventional oral medication when they enrolled. Most of the participants (72%) were female. Among the women, 31% were overweight, 32% were obese, and 15% currently smoked. Among the males, 44% were overweight, 35% were obese and 22% currently smoked. Sex, excess weight and smoking were not significantly associated with symptom severity early on, when patients entered the study. However, all three factors influenced how much symptoms improved over time. The average rate of improvement in the disease activity score was lower in women compared to men. Less symptom improvement was also seen in patients who were overweight or obese compared with those of a healthy weight. Current smokers also saw less symptom relief compared to nonsmokers over time. Former smokers, however, did not do worse than those who had never smoked. The most dramatic differences in symptoms were seen in patients who were overweight or obese and smoked. These patients had considerably worse outcomes over time compared to nonsmoking patients with a healthy weight. "These results contribute to growing evidence of how lifestyle impacts how well patients may respond to treatment and the potential value of referring them to proven community-based smoking cessation and weight management programs," Dr. Bykerk concluded. Authors: Susan J. Bartlett1,2, Orit Schieir3, Kathleen Andersen4, Gilles Boire5, Boulos Haraoui6, Carol Hitchon7, Edward Keystone8, Janet E. Pope9, J Carter Thorne10, Diane Tin11, Vivian P. Bykerk12 and Canadian Early Arthritis Cohort (CATCH) Investigators, 1Department of Medicine, Division of ClinEpi, Rheumatology, Respirology, McGill University, Montreal, QC, Canada, 2Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, 3University of Toronto, Toronto, ON, Canada, 4Rheumatology, Hospital for Special Surgery, New York, NY, 5Rheumatology Division, CHUS - Sherbrooke University, Sherbrooke, QC, Canada, 61551, Ontario Street East, Institut de Recherche en Rhumatologie de Montréal (IRRM), Montreal, QC, Canada, 7University of Manitoba, Winnipeg, MB, Canada, 8Mt. Sinai Hospital, University of Toronto, Toronto, ON, Canada, 9University of Western Ontario, St Joseph's Health Care, London, ON, Canada, 10Southlake Regional Health Centre, Newmarket, ON, Canada, 11The Arthritis Program, Southlake Regional Health Centre, Newmarket, ON, Canada, 12Divison of Rheumatology, Hospital for Special Surgery, New York, NY Hospital for Special Surgery (HSS) is the world's largest academic medical center focused on musculoskeletal health. HSS is nationally ranked No. 1 in orthopedics and No. 2 in rheumatology by U.S. News & World Report (2016-2017), and is the first hospital in New York State to receive Magnet Recognition for Excellence in Nursing Service from the American Nurses Credentialing Center four consecutive times. HSS has one of the lowest infection rates in the country. HSS is an affiliate of Weill Cornell Medical College and as such all Hospital for Special Surgery medical staff are faculty of Weill Cornell. The hospital's research division is internationally recognized as a leader in the investigation of musculoskeletal and autoimmune diseases. Hospital for Special Surgery is located in New York City and online at http://www. .


Lamas M.J.,Complejo Hospitalario Universitario of Santiago | Duran G.,Complejo Hospitalario Universitario of Santiago | Balboa E.,Molecular Medicine Unit | Bernardez B.,Complejo Hospitalario Universitario of Santiago | And 7 more authors.
Pharmacogenomics | Year: 2011

Aim: Polymorphisms in the metabolism, detoxification or DNA repair pathways have been proposed as potential predictors of response to 5-fluorouracil and oxaliplatin. We have studied the predictive value of a set of germline genetic polymorphisms in metastatic colorectal cancer patients treated with mFolfox-6. Materials & methods: A total of 72 patients, comprising 50 men (69.4%) and 22 women (30.6%), were included after the signing of an informed consent form. Median age was 65.5 years (range: 32-80). All participants received mFolfox-6. DNA was extracted from peripheral blood samples and genotyped by direct sequencing, SnapShot®Â and multiplex PCR techniques. Eight polymorphisms within six genes were investigated: TS 5́Ấ-UTR (variable number tandem repeat + G/C), TS 3́-UTR (TS1494del6); MTHFR C677T and A1298C; GSTP1 I105V; ERCC1 C118T; XPD Lys751Gln and XRCC1 Arg399Gln. Association was evaluated by univariate analysis, and Cox regression and Kaplan-"Meier assessed survival. The local ethics committee approved the pharmacogenetic study protocol and all subjects signed an informed consent before participating in the study. Results: The sample was in Hardy-"Weinberg equilibrium. Only XPD Lys751Gln was found to be significantly associated with a favorable progression-free survival (PFS). Median PFS for XPD Lys751Gln patients (n = 33) was 16 months (95% CI: 9.2-"22.7), 10 months (95% CI: 6.1-"13.9) for Gln/Gln (n = 11) and 8 months (95% CI: 5.8-"10.2) for Lys/Lys (n = 28), p = 0.019. The increased risk of progression was: 1.93 (95% CI: 1.13-"13.30; p = 0.017) for Lys/Lys and 2.1 (95% CI: 1.01-"4.22; p = 0.047) for Gln/Gln. Patients with one or two Val alleles of GSTP1 tended to a lower risk of progression compared with Ile/Ile homozygotes, p = 0.067. When XPD Lys751Gln and GSTP1 were analyzed jointly, patients who carried one or two favorable genotypes, XPD Lys751Gln and Val, had a longer median PFS: 11 months (95% CI: 7.4-"14.6) compared with six (95% CI: 4.6-7.4) with unfavorable genotypes, p < 0.001. Conclusion: In metastatic colorectal cancer patients treated with mFolfox-6, the combination of haplotype XPD Lys751Gln-GSTP1 105Val seems to predict the risk of progression. © 2011 Future Medicine Ltd.


Poder T.G.,UETMIS and CRCHUS | He J.,University of Sherbrooke | Simard C.,CH of Chicoutimi | Pasquier J.-C.,CHUS
Patient Preference and Adherence | Year: 2014

Objective: To measure the willingness to pay (WTP) of women aged 18–45 years to receive drug treatment for ovulation induction (ie, the social value of normal cycles of ovulation for a woman of childbearing age) in order to feed the debate about the funding of fertility cares.Setting: An anonymous questionnaire was used over the general population of Quebec.Participants: A total of 136 subjects were recruited in three medical clinics, and 191 subjects through an online questionnaire.Method: The questionnaire consisted of three parts: introduction to the problematic, socioeconomic data collection to determine factors influencing the formation of WTP, and a WTP question using the simple bid price dichotomous choice elicitation technique. The econometric estimation method is based on the “random utility theory.” Each subject responding to our questionnaire could express her uncertainty about the answer to our WTP question by choosing the answer “I do not know.”Outcome measure: The WTP in Canadian dollars of women aged 18–45 years to receive drug treatment for ovulation induction.Results: Results are positive and indicate an average WTP exceeding 4,800 CAD, which is much more than the drug treatment cost. There is no evidence of sample frame bias or avidity bias across the two survey modes that cannot be controlled in econometric estimates.Conclusion: Medical treatment for ovulation induction is highly socially desirable in Quebec. © 2014 Poder et al.


PubMed | CH of Chicoutimi, UETMIS and CRCHUS, Université de Sherbrooke and CHUS
Type: | Journal: Patient preference and adherence | Year: 2014

To measure the willingness to pay (WTP) of women aged 18-45 years to receive drug treatment for ovulation induction (ie, the social value of normal cycles of ovulation for a woman of childbearing age) in order to feed the debate about the funding of fertility cares.An anonymous questionnaire was used over the general population of Quebec.A total of 136 subjects were recruited in three medical clinics, and 191 subjects through an online questionnaire.THE QUESTIONNAIRE CONSISTED OF THREE PARTS: introduction to the problematic, socioeconomic data collection to determine factors influencing the formation of WTP, and a WTP question using the simple bid price dichotomous choice elicitation technique. The econometric estimation method is based on the random utility theory. Each subject responding to our questionnaire could express her uncertainty about the answer to our WTP question by choosing the answer I do not know.The WTP in Canadian dollars of women aged 18-45 years to receive drug treatment for ovulation induction.Results are positive and indicate an average WTP exceeding 4,800 CAD, which is much more than the drug treatment cost. There is no evidence of sample frame bias or avidity bias across the two survey modes that cannot be controlled in econometric estimates.Medical treatment for ovulation induction is highly socially desirable in Quebec.


Anton Aparicio L.M.,UDC | Anton Aparicio L.M.,Oncology Group | Medina Villaamil V.,Oncology Group | Aparicio Gallego G.,Oncology Group | And 9 more authors.
Cancer Genomics and Proteomics | Year: 2011

Background: Mutations in signalling pathways essential for embryonic development often lead to tumourigenesis, as is also true for Notch. The aim of this study was to assess the relationship between Notch1 to -4 and their ligands with anatomopathological features of the patients with renal cell carcinoma (RCC). Materials and Methods: This study investigated the pattern of protein expression in RCC specimens using tissue microarray technology. A total of 80 paraffin-embedded RCC samples were retrospectively analysed together with ACHN and A.704 cell lines. Results: Notch1 showed significant positive correlation with chromophobe RCC, no broken capsule, Furhman grade I and when the number of nodes involved was small [(N=1); p=0.039, 0.016, 0.037 and 0.001, respectively)]. Notch3 showed higher expression when the tumour was located in the right kidney (p=0.048). Conclusion: Notch1 may be useful in the future as a biomarker for the differential diagnosis of different RCC histological subtypes. Notch1 to -3 may also have potential use as a strong prognostic factor.


Damaj L.,Neurology Service | Damaj L.,Teaching Hospital of Rennes | Lupien-Meilleur A.,CHU Ste Justine | Lortie A.,Neurology Service | And 6 more authors.
European Journal of Human Genetics | Year: 2015

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often overlooked. In this study, we report 16 affected individuals from four unrelated families presenting with a spectrum of cognitive impairment including intellectual deficiency, executive dysfunction, ADHD and/or autism, as well as childhood-onset epileptic encephalopathy with refractory absence epilepsy, febrile seizures, downbeat nystagmus and episodic ataxia. Sequencing revealed one CACNA1A gene deletion, two deleterious CACNA1A point mutations including one known stop-gain and one new frameshift variant and a new splice-site variant. This report illustrates the phenotypic heterogeneity of CACNA1A loss-of-function mutations and stresses the cognitive and epileptic manifestations caused by the loss of Ca V 2.1 channels function, presumably affecting cerebellar, cortical and limbic networks. © 2015 Macmillan Publishers Limited.


PubMed | Neurology Service, CHUS and CHU Ste Justine
Type: Journal Article | Journal: European journal of human genetics : EJHG | Year: 2015

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often overlooked. In this study, we report 16 affected individuals from four unrelated families presenting with a spectrum of cognitive impairment including intellectual deficiency, executive dysfunction, ADHD and/or autism, as well as childhood-onset epileptic encephalopathy with refractory absence epilepsy, febrile seizures, downbeat nystagmus and episodic ataxia. Sequencing revealed one CACNA1A gene deletion, two deleterious CACNA1A point mutations including one known stop-gain and one new frameshift variant and a new splice-site variant. This report illustrates the phenotypic heterogeneity of CACNA1A loss-of-function mutations and stresses the cognitive and epileptic manifestations caused by the loss of CaV2.1 channels function, presumably affecting cerebellar, cortical and limbic networks.


Aim: The purpose of this study was to calculate the cost savings associated with using the kaizen approach in our hospital. Methods: Originally developed in Japan, the kaizen approach, based on the idea of continuous improvement, has considerable support in North America, including in the Quebec health care system. This study assessed the first fifteen kaizen projects at the CHUS. Results: Based on an economic evaluation, we showed that using the kaizen approach can result in substantial cost savings. Conclusion: The success of the kaizen approach requires compliance with specific prerequisites. The future of the approach will depend on our ability to comply with these prerequisites. More specifically, such compliance will determine whether the approach is merely a passing fad or a strategy for improving our management style to promote greater efficiency. © S.F.S.P.. Tous droits réservés pour tous pays.

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