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OBJECTIVES: The pharmaceutical analysis of drug prescriptions is one of the key steps in the drug circuit. This mandatory regulatory practice in France and Quebec is based on national standards. The main objective of this work was to compare the practical methods of pharmaceutical analysis performed in French and Quebec university hospitals. METHODS: This is a prospective comparative survey conducted in 2 French and Quebec university hospital centres among pharmacists and pharmacy residents. RESULTS: The response rate to the survey was 60% (45/75). Between 16 and 22 elements were deemed necessary to structure the centralized, decentralized or mixed pharmaceutical analysis. The chronological ranking of these elements was comparable between the French and Quebec participants. All participants were in favour of the development of initial and continuing training in pharmaceutical analysis. Finally, the majority of participants were against using individual pharmaceutical analysis performance indicators to optimize the process (82%; 37/45). CONCLUSIONS: The French-Quebec practice of prescription analysis by a ward-pharmacist complies with national standards. The main differences in the practice of pharmaceutical analysis are related to the types of organization, the tools available and the length of time pharmacists have been deployed in care units in France and Quebec.
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Prescripciones de Medicamentos/normas , Instituciones de Salud/estadística & datos numéricos , Sistemas de Medicación en Hospital , Actitud del Personal de Salud , Francia , Hospitales Universitarios , Humanos , Farmacéuticos , Servicio de Farmacia en Hospital , Estudios Prospectivos , Quebec , Encuestas y CuestionariosRESUMEN
BACKGROUND: Previous research has shown relatively diminished medial prefrontal cortex activation and heightened psychophysiological responses during the recollection of personal events in post-traumatic stress disorder (PTSD), but the origin of these abnormalities is unknown. Twin studies provide the opportunity to determine whether such abnormalities reflect familial vulnerabilities, result from trauma exposure, or are acquired characteristics of PTSD. METHODS: In this case-control twin study, 26 male identical twin pairs (12 PTSD; 14 non-PTSD) discordant for PTSD and combat exposure recalled and imagined trauma-unrelated stressful and neutral life events using a standard script-driven imagery paradigm during functional magnetic resonance imaging and concurrent skin conductance measurement. RESULTS: Diminished activation in the medial prefrontal cortex during Stressful v. Neutral script-driven imagery was observed in the individuals with PTSD, relative to other groups. CONCLUSIONS: Diminished medial prefrontal cortex activation during Stressful v. Neutral script-driven imagery may be an acquired characteristic of PTSD. If replicated, this finding could be used prospectively to inform diagnosis and the assessment of treatment response.
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Imagen por Resonancia Magnética , Corteza Prefrontal/fisiopatología , Trastornos por Estrés Postraumático/fisiopatología , Veteranos/psicología , Anciano , Estudios de Casos y Controles , Humanos , Imaginación , Masculino , Recuerdo Mental , Persona de Mediana Edad , Estados UnidosRESUMEN
Background/Purpose Long-term anticoagulation is the standard treatment for thrombotic antiphospholipid syndrome (APS). However, in daily practice, the question of withdrawing anticoagulation may arise, without any evidence-based recommendations. This study aimed to assess outcomes in APS patients after anticoagulation withdrawal. Methods Thrombotic APS patients followed in our centre, whose anticoagulation was withdrawn after APS diagnosis, were retrospectively selected, and were match-controlled with patients under anticoagulation, based on sex, age, APS clinical phenotype and disease duration. Results Thirty cases with anticoagulation withdrawal were included. Median follow-up was 51 months (12-124). The risk of thrombotic relapse was higher in cases compared to controls (7.3% versus 1.5% patient-year ( p = 0.01); hazard ratio 4.8; 95% confidence interval (1.4-16.7)). Male gender, anti-ß2GP1 and triple positivity at inclusion were predictive factors for thrombotic relapse. Conversely, aspirin prescription was a protective factor against relapses. Persistence of LA, anti-ß2GP1 and triple positivity over time were associated with a higher risk of thrombosis and aPL disappearance with a lower risk. Conclusion In our study, anticoagulation withdrawal was associated with an increased risk of thrombotic relapse. Our findings emphasize the influence of anti-ß2GP1 and triple positivity persistence over time on the risk of relapse and the benefit of aspirin prescription when anticoagulation has been withdrawn.
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Anticoagulantes/administración & dosificación , Síndrome Antifosfolípido/complicaciones , Síndrome Antifosfolípido/tratamiento farmacológico , Trombosis/complicaciones , Trombosis/tratamiento farmacológico , Adulto , Anticuerpos Antifosfolípidos/inmunología , Anticoagulantes/uso terapéutico , Aspirina/uso terapéutico , Coagulación Sanguínea/efectos de los fármacos , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Adulto JovenRESUMEN
Introduction The long-term risk of first thrombosis and benefit of prophylaxis in antiphospholipid antibody (aPL) carriers without history of thrombosis or obstetrical morbidity is poorly known. This study aimed to evaluate the long-term rate and risk factors associated with a first thrombosis in those patients. Patients and methods After a prior study ended in December 2005 and was already published, we extended the follow-up period of our cohort of aPL carriers. Results Ninety-eight of the 103 patients of the previous study were included. The annual first thrombosis rate was 2.3% per patient-year during a median of 13 years (6-17). None of the baseline characteristics was predictive of risk of first thrombosis, but persistent aPL over time were associated with an increased risk. The stronger association was found in triple aPL-positive carriers: OR 3.38 (95% CI: 1.24-9.22). Of note, conversely to our previous findings, no benefit of aspirin prophylaxis was observed. Conclusion The risk of first thrombosis in aPL carriers without history of thrombosis or obstetrical morbidity was significant, persisted linearly over time and was associated with persistent aPL. This risk was especially increased in triple aPL-positive carriers, in whom a close follow-up seems to be necessary. Nevertheless, the benefit of aspirin prophylaxis remained unclear.
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Anticuerpos Antifosfolípidos/sangre , Síndrome Antifosfolípido/sangre , Trombosis/etiología , Adulto , Síndrome Antifosfolípido/complicaciones , Síndrome Antifosfolípido/diagnóstico , Síndrome Antifosfolípido/tratamiento farmacológico , Aspirina/administración & dosificación , Biomarcadores/sangre , Distribución de Chi-Cuadrado , Supervivencia sin Enfermedad , Femenino , Fibrinolíticos/administración & dosificación , Estudios de Seguimiento , Humanos , Estimación de Kaplan-Meier , Modelos Lineales , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Trombosis/sangre , Trombosis/diagnóstico , Trombosis/prevención & control , Factores de Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVES: The main objective of this study was to compare the responses of pharmacy residents regarding critical steps for medication order review, in the presence or absence of clinical pharmacists on patient care units, to describe the sequence of these steps and to compare them to an optimal sequence. The secondary objectives were to test this sequence in a simulation and to assess the residents' level of agreement on medication order review. METHODS: Twenty-two validation steps were selected from guidelines. A simulation on order review was organized in three steps: selecting elements judged to be necessary or not for the order review critical path, then organizing this sequence in chronological order, implementation of this critical path on two simulated practical cases, resident perceptions about order review in their training. RESULTS: Forty-one residents participated in the activity. Responses were heterogeneous regarding the elements' sequence and the time required for the review of a simulated case (3-13minutes). A majority of residents considered that their training was insufficient (29/41), that pharmacists validated differently (27/41), and that it was impossible to review the 22 proposed items for each prescription (30/41). CONCLUSIONS: This article highlights heterogeneous medication order review practices among pharmacy residents, due to a lack of training in their curriculum according to them. It is essential to acquire medication order review standard both locally and nationally.
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Educación de Postgrado en Farmacia/organización & administración , Internado no Médico , Administración del Tratamiento Farmacológico/educación , Administración del Tratamiento Farmacológico/organización & administración , Farmacéuticos , Servicio de Farmacia en Hospital , Simulación por Computador , Humanos , Errores de Medicación/prevención & controlRESUMEN
For 2 × 2 tables, Egon Pearson's N - 1 chi-squared statistic is theoretically more sound than Karl Pearson's chi-squared statistic, and provides more accurate p values. Moreover, Egon Pearson's N - 1 chi-squared statistic is equal to the Mantel-Haenszel chi-squared statistic for a single 2 × 2 table, and as such, is often available in statistical software packages like SPSS, SAS, Stata, or R, which facilitates compliance with Ian Campbell's recommendations.
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Bioestadística/métodos , Distribución de Chi-Cuadrado , Humanos , Modelos Estadísticos , Programas InformáticosRESUMEN
INTRODUCTION: Health care professionals often forget that there are risks associated with infusion therapy even if it is a common care. In order to assess this practice and to draw potential improvement actions, an audit of local gravity-flow intravenous infusion practices was conducted. MATERIAL AND METHOD: The audit, based on a grid including 66 items from the medical prescription to the end of the infusion therapy administration, was conducted in the 6 units which use the most gravity-flow intravenous infusion devices. A multidisciplinary working group was created to decide and organize priority corrective measures in order to improve infusion practices and quality of healthcare. RESULTS: The audit enabled to observe 90hours of nurse's practices (96 infusions) and highlighted heterogeneity in infusion, in some cases inappropriate infusion practices and misuse of infusion devices. We found 4 main issues: labelling infusion therapy, training of health care professionals on good practices, support the purchase of infusion pumps and standardize perfusion line. An interactive educational program for nurses (workshops) was organized to enhance the respect of good practices: infusion identification at any time, respect of hygiene rules, flow rate regulation by counting drops, appropriate use of pumps and flow rate regulators. DISCUSSION: The audit drew up work priorities. The workshops made easier exchanges between professionals and had a warm welcome that's why it is essential to carry on such training. CONCLUSION: This collaborative approach between pharmacists, nurses, hygienists and biomedical technicians contribute to drug management improvement and promote optimal patient care.
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Personal de Salud , Infusiones Intravenosas/normas , Educación Continua en Enfermería , Humanos , Higiene , Infusiones Intravenosas/instrumentación , Comunicación Interdisciplinaria , Auditoría Médica , Enfermeras y EnfermerosRESUMEN
BACKGROUND: (131)I-metaiodobenzylguanidine (MIBG) is an active radiopharmaceutical in neuroblastoma. A previous study demonstrated that MIBG could be combined with vincristine and prolonged irinotecan, although 25% of first courses had grade 3 diarrhoea. The current phase I/II study evaluated MIBG with vincristine and 5 days of higher-dose irinotecan. METHODS: Patients 1-30 years old with advanced neuroblastoma were eligible. Patients received cefixime on days -1 to +6, irinotecan (50 mg m(-2) per dose IV) on days 0-4, vincristine (2 mg m(-2)) on day 0, MIBG (555 or 666 MBq kg(-1)) on day 1, and peripheral blood stem cells on day 13. UGT1A1 genotyping was performed in consenting patients. RESULTS: Thirty-two patients (12 phase I ; 20 phase II) received 42 courses. No dose-limiting toxicities were seen during dose escalation and the recommended administered activity was 666 MBq kg(-1). Myelosuppression and diarrhoea were the most common toxicities, with grade 3 diarrhoea in 6% of first courses. Patients homozygous for UGT1A1*28 had more grade 4 thrombocytopenia (80% vs 37%; P=0.14). Responses (five complete and four partial) occurred in 9 out of 32 (28%) patients. CONCLUSIONS: MIBG (666 MBq kg(-1)) with vincristine and this irinotecan schedule is tolerable and active, with less severe diarrhoea compared with a regimen using more protracted irinotecan.
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3-Yodobencilguanidina/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Camptotecina/análogos & derivados , Radioisótopos de Yodo/uso terapéutico , Neuroblastoma/terapia , Vincristina/administración & dosificación , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Camptotecina/administración & dosificación , Camptotecina/efectos adversos , Quimioradioterapia , Niño , Preescolar , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Femenino , Humanos , Irinotecán , Masculino , Dosis Máxima Tolerada , Neuroblastoma/genética , Dosificación Radioterapéutica , Vincristina/efectos adversos , Adulto JovenRESUMEN
BACKGROUND: There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. RESULTS: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n=24 centres) (infants <1 year, >2-3g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n=10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n=4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n=25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day). CONCLUSIONS: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.
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Aminoácidos/administración & dosificación , Caseínas/administración & dosificación , Proteínas en la Dieta/administración & dosificación , Suplementos Dietéticos , Fragmentos de Péptidos/administración & dosificación , Fenilcetonurias/dietoterapia , Adulto , Niño , Preescolar , Europa (Continente) , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Fenilalanina , Encuestas y Cuestionarios , Turquía , Organización Mundial de la SaludRESUMEN
BACKGROUND: Bendamustine is a bifunctional alkylating agent with unique properties that distinguish it from other agents in its class. Bendamustine is used as monotherapy or in combination with other agents to treat patients with non-Hodgkin lymphoma (nhl) and chronic lymphocytic leukemia (cll). METHODS: The prospective interventional open-label bend-act trial evaluated bendamustine in patients with rituximab-refractory indolent nhl (inhl) and previously untreated cll. Study objectives were to assess the safety and tolerability of bendamustine monotherapy and to provide patients with access to bendamustine before Health Canada approval. The study aimed to enrol up to 100 patients. All patients with inhl received an intravenous dose of bendamustine 120 mg/m(2) over 60 minutes on days 1 and 2 for up to eight 21- or 28-day treatment cycles. All patients with cll received an intravenous dose of bendamustine 100 mg/m(2) over 30 minutes on days 1 and 2 for up to six 28-day treatment cycles. RESULTS: Of 90 patients treated on study (16 with cll and 74 with inhl), 35 completed the study (4 with cll and 31 with inhl). The most common treatment-emergent adverse events (teaes) were nausea (70%), fatigue (57%), vomiting (40%), and diarrhea (33%)-mostly grades 1 and 2. Ondansetron was the most common supportive medication used in the patients (63.5% of those with inhl and 68.8% of those with cll). Neutropenia (32%), anemia (23%), and thrombocytopenia (21%) were the most frequent hematologic teaes, with neutropenia being the most common grade 3 or 4 teae leading to dose modification. Dose delays occurred in 28 patients (31.3%) because of grade 3 or 4 teaes, with a higher incidence of dose delays being observed in inhl patients on the 21-day treatment cycle than in those on the 28-day treatment cycle (50.0% vs. 24.1%). During the study, 33 patients (36.7%) experienced at least 1 serious adverse event, and 4 deaths were reported (all in patients with inhl). CONCLUSIONS: The type and frequency of the teaes reported accorded with observations in earlier clinical trials and post-marketing experiences, thus confirming the acceptable and manageable safety profile of bendamustine.
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In diffuse large B-cell lymphomas (DLBCL), a recurrent deletion of the 19p13 region has recently been described. CD70 and TNFSF9 genes are suspected tumor suppressor genes, but previous studies suggest an oncogenic role for CD70. Therefore, we studied the consequences of variation in CD70 copy number and epigenetic modifications on CD70 expression. Copy-number variation was investigated in 144 de novo DLBCL tissues by comparative genomic hybridization array and quantitative multiplex PCR. Gene expression was assessed by quantitative RT-PCR, and CD70 promoter methylation was determined by pyrosequencing. The 19p13.3.2 region was deleted in 21 (14.6%) cases, which allowed the minimal commonly deleted region of 57 Kb that exclusively includes the CD70 gene to be defined. Homozygous deletions were observed in four (2.7%) cases, and acquired single-nucleotide variations of CD70 were detected in nine (6.3%) cases. CD70 was highly expressed in both germinal centre B-cell-like (GCB) and activated B-cell-like (ABC) DLBCL compared to normal tissue, with distinct molecular mechanisms of mRNA expression regulation. A gene dosage effect was observed in the GCB subtype, whereas promoter methylation was the predominant mechanism of down regulation in the ABC subtype. However, high CD70 expression levels correlated to shorter overall survival in both the GCB (P = 0.0021) and the ABC (P =0.0158) subtypes. In conclusion, CD70 is targeted by recurrent deletions, somatic mutations and promoter hypermethylation, but its high level of expression is related to an unfavorable outcome, indicating that this molecule may constitute a potential therapeutic target in selected DLBCL.
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Ligando CD27/genética , Variaciones en el Número de Copia de ADN/genética , Metilación de ADN/genética , Linfoma de Células B Grandes Difuso/genética , Ligando CD27/aislamiento & purificación , Puntos de Rotura del Cromosoma , Deleción Cromosómica , Regulación Neoplásica de la Expresión Génica , Humanos , Hibridación Fluorescente in Situ , Linfoma de Células B Grandes Difuso/patología , Regiones Promotoras Genéticas , Análisis de SupervivenciaRESUMEN
The dynamics of cattle body chemical composition during growth and fattening periods determine animal performance and beef carcass quality. The aim of this study was to estimate the empty body (EB) and carcass chemical composition of growing beef-on-dairy crossbred bulls (Brown Swiss breed as dam with Angus, Limousin or Simmental as sire) using three-dimensional (3D) imaging. The 3D images of the cattle's external body shape were recorded in vivo on 48 bulls along growth trajectory (75-520 kg BW and 34-306 kg hot carcass weight [HCW]; set 1) and on 70 bulls at target market slaughter weight, including 18 animals from set 1 (average 517 ± 10 kg BW and 289 ± 10 kg HCW; set 2). The linear, circumference, curve, surface and volume measurements on the 3D body shape were determined. Those predictive variables were used in partial least square regressions, together with the effect of the sire breed whenever significant (P < 0.05), with leave-one-out cross-validation to estimate water, lipid, protein, mineral and energy mass or proportions in the EB and carcass. Mass and proportions were determined directly from postmortem grinding and chemical analyses (set 1) or indirectly using the 11th rib dissection method (set 2). In set 1, bulls' BW and HCW were estimated via 3D imaging, with root mean square error of prediction (RMSEP) of 12 kg and 6 kg, respectively. The EB and carcass chemical component proportions were estimated with RMSEP from 0.2% for EB minerals (observed mean 3.7 ± 0.2%) to 1.8% for EB lipid (11.6 ± 4.2%), close to the RMSEP found for the carcass. In set 2, the RMSEP for estimation via 3D imaging was 9 kg for BW and 6 kg for HCW. The EB energy and protein proportions were estimated, with RMSEP of 0.5 MJ/kg fresh matter (10.1 ± 0.8 MJ/DM) and 0.2% (18.7 ± 0.7%), respectively. Overall, the estimations of chemical component proportions from 3D imaging were slightly less precise for both sets than the mass estimations. The morphological traits from the 3D images appeared to be precise estimators of BW, HCW as well as EB and carcass chemical component masses and proportions.
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Composición Corporal , Imagenología Tridimensional , Animales , Bovinos/genética , Masculino , Imagenología Tridimensional/veterinaria , Imagenología Tridimensional/métodos , Peso Corporal , Carne Roja/análisis , CruzamientoRESUMEN
BACKGROUND: Patients with chronic illnesses, especially rare autoimmune and/or systemic diseases associated with significant diagnostic uncertainty, have a representation of their illness and a sometimes prolonged hospitalization experience that can be traumatic and anxiety-provoking. OBJECTIVE: The aim of this study was to evaluate the impact of a non-medicinal medical hypnosis intervention in reducing the stress state and improving the experience of patients hospitalized in an internal medicine department. METHODS: We conducted a prospective study of 24 patients hospitalized in the Internal Medicine Department of Lille University Hospital in 2023. Twelve patients received a non-drug medical hypnosis intervention known as the "place of safety" (case group) and were compared with 12 patients who did not (control group). Stress was assessed by the STAI questionnaire and hospitalization experience by a satisfaction questionnaire. RESULTS: The 24 patients, 13 of whom were women, had a mean age of 55±17 years at inclusion. On admission to hospital, the median STAI-ETAT between the two groups was 43.5 (38.0; 56.6) in the case group versus 42.0 (37.0; 48.5) in the control group (P=0.45). In the case group, the median STAI-ETAT questionnaire taken immediately after the hypnosis session was significantly lower than at the start of hospitalization (30.0 [25.5; 36.5] vs. 43.5 [38.0; 56.5] P=0.003), indicating a significant reduction in stress. At the end of hospitalization, there was also a significant persistence of the median significant reduction between cases and controls (29.5 [26.5; 35.0] for cases vs. 41.5 [33.5; 45.5] for controls P=0.002). Experience of hospitalization was better in the case group (median 5.0 [4.5; 5.0] vs. 4.0 [4.0; 4.5], P=0.016). CONCLUSION: This study suggests that medical hypnosis is a promising non-medicinal supportive intervention for reducing perceived stress and improving the experience of stress in patients hospitalized on an internal medicine ward.
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Hospitalización , Hipnosis , Medicina Interna , Estrés Psicológico , Humanos , Femenino , Hipnosis/métodos , Medicina Interna/estadística & datos numéricos , Medicina Interna/métodos , Masculino , Persona de Mediana Edad , Hospitalización/estadística & datos numéricos , Estrés Psicológico/terapia , Estrés Psicológico/epidemiología , Estrés Psicológico/etiología , Estrés Psicológico/psicología , Anciano , Adulto , Estudios Prospectivos , Encuestas y Cuestionarios , Departamentos de Hospitales/estadística & datos numéricos , Satisfacción del Paciente/estadística & datos numéricosRESUMEN
BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported. The majority of patients (70%; n=327) were aged 0-16y and 30% (n=137) >16y. Prescribed median protein intake/kg body weight decreased with age with little variation between disorders. The UK tended to give more total protein than other European countries particularly in infancy. Supplements of essential amino acids (EAA) were prescribed for 38% [n=174] of the patients overall, but were given more commonly in arginase deficiency (74%), CPS (48%) and citrullinaemia (46%). Patients in Germany (64%), Portugal (67%) and Sweden (100%) were the most frequent users of EAA. Only 18% [n=84] of patients were prescribed tube feeds, most commonly for CPS (41%); and 21% [n=97] were prescribed oral energy supplements. CONCLUSIONS: Dietary treatment for UCD varies significantly between different conditions, and between and within European IMD centres. Further studies examining the outcome of treatment compared with the type of dietary therapy and nutritional support received are required.
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Aminoácidos Esenciales/metabolismo , Dieta con Restricción de Proteínas , Trastornos Innatos del Ciclo de la Urea/dietoterapia , Trastornos Innatos del Ciclo de la Urea/patología , Adolescente , Adulto , N-Acetiltransferasa de Aminoácidos/deficiencia , Arginasa/metabolismo , Aciduria Argininosuccínica/dietoterapia , Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N/deficiencia , Niño , Preescolar , Citrulinemia/dietoterapia , Europa (Continente) , Humanos , Lactante , Recién Nacido , Ornitina Carbamoiltransferasa/metabolismo , Encuestas y Cuestionarios , Resultado del Tratamiento , Trastornos Innatos del Ciclo de la Urea/enzimologíaRESUMEN
BACKGROUND: Acute decompensation of maple syrup urine disease (MSUD) is usually treated by enteral feeding with an amino-acid mixture without leucine (Leu), valine or isoleucine. However, its administration is ineffective in cases of gastric intolerance and some adult patients refuse enteral feeding via a nasogastric tube. We developed a new parenteral amino-acid mixture for patients with MSUD. METHODS: Seventeen decompensation episodes in four adult patients with MSUD treated with a parenteral amino-acid mixture (group P) were compared to 18 previous episodes in the same patients treated by enteral feeding (group E). RESULTS: The mean Leu concentration at presentation was similar in the groups P and E (1196.9 µmol/L and 1212.2 µmol/L, respectively). The mean decrease in the Leu concentration during the first 3 days of hospitalisation was significantly higher in group P than group E (p = 0.0026); there were no side effects. The mean duration of hospitalisation was similar (4 vs. 4.5 days, p = NS). No patient in group P deteriorated whereas one patient in group E required dialysis. CONCLUSION: This new parenteral amino-acid mixture is safe and allows efficient Leu concentration decrease during acute MSUD decompensation episodes in adults. Its use avoids the need for nasogastric tube insertion.
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Aminoácidos/administración & dosificación , Insuficiencia Cardíaca/dietoterapia , Enfermedad de la Orina de Jarabe de Arce/dietoterapia , Nutrición Parenteral , Adulto , Femenino , Alimentos Formulados , Insuficiencia Cardíaca/etiología , Hospitalización , Humanos , Masculino , Enfermedad de la Orina de Jarabe de Arce/complicaciones , Aceptación de la Atención de Salud , Adulto JovenRESUMEN
OBJECTIVE: Strict adherence to a gluten-free diet is the only treatment for coeliac disease. The gluten-free diet is complex, costly and impacts on all activities involving food, making it difficult to maintain for a lifetime. The purpose of this cross-sectional study was to evaluate the difficulties experienced, the strategies used and the emotional impact of following a gluten-free diet among Canadians with coeliac disease. METHODS: A questionnaire was mailed to all members (n = 10 693) of both the Canadian Celiac Association and the Fondation québécoise de la maladie cÅliaque in 2008. RESULTS: The overall response rate was 72%. Results are presented for the 5912 respondents (≥18 years) reporting biopsy-confirmed coeliac disease and/or dermatitis herpetiformis. Two-thirds never intentionally consumed gluten. Women reported significantly greater emotional responses to a gluten-free diet but, with time, were more accepting of it than men. Difficulties and negative emotions were experienced less frequently by those on the diet for >5 years, although food labelling and eating away from home remained very problematic. Frustration and isolation because of the diet were the most common negative emotions experienced. CONCLUSIONS: The present study quantifies the difficulties experienced, the strategies used and the emotional impact of following a gluten-free diet. It highlights the need to improve the training and education of dietitians, other health providers and the food service industry workers about coeliac disease and a gluten-free diet, with the aim of better helping individuals improve their adherence to a gluten-free diet and their quality of life.
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Enfermedad Celíaca/dietoterapia , Dieta Sin Gluten/psicología , Conducta Alimentaria , Frustación , Glútenes , Cooperación del Paciente/psicología , Aislamiento Social , Adulto , Anciano , Canadá , Enfermedad Celíaca/psicología , Estudios Transversales , Dermatitis Herpetiforme/dietoterapia , Femenino , Etiquetado de Alimentos , Glútenes/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Factores Sexuales , Encuestas y CuestionariosRESUMEN
OBJECTIVES: Psychotic symptoms associated with Alzheimer Disease (AD) contribute to excess functional dependence. Longitudinal studies have generally examined the association between rates of functional decline and the occurrence of psychotic symptoms from either a single evaluation or from multiple evaluations rather than through changes in frequency and severity of symptoms. Although the presence or absence of psychotic symptoms at initial or follow-up examinations may be associated with changes in functional status, the nature of the relationship between changes in these domains cannot be inferred. We examine the association between changes in the frequency of psychotic symptoms and changes in dependence in activities of daily living (ADL) over a period ranging from 1 to 74 months (median = 17.7). METHOD: Data from a cohort of 234 individuals referred to a memory clinic were analyzed using multilevel linear regression. Information on ADL, behavioral and psychological symptoms, depression, and cognition was collected. RESULTS: An increase in the frequency of psychotic symptoms had a unique influence on the deterioration of basic ADL, after controlling for demographic variables, changes in cognition, depression, and other behavioral and psychological symptoms (B = -.017, p = .003). However, changes in psychotic symptoms did not significantly contribute to declines in the ability to perform instrumental ADL (B = -.008, p = .439). CONCLUSION: Changes in psychotic symptoms may influence basic but not instrumental ADL over time. These findings may have ramifications for studies and treatment plans for individuals with AD who demonstrate psychotic symptoms.
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Actividades Cotidianas/psicología , Enfermedad de Alzheimer/psicología , Depresión/etiología , Trastornos Psicóticos/etiología , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/fisiopatología , Estudios de Cohortes , Análisis Factorial , Femenino , Humanos , Modelos Lineales , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Escalas de Valoración PsiquiátricaRESUMEN
Obesity, a common multifactorial disorder, is a major risk factor for type 2 diabetes, hypertension and coronary heart disease (CHD). According to the definition of the World Health Organization (WHO), approximately 6-10% of the population in Westernized countries are considered obese. Epidemiological studies have shown that 30-70% of the variation in body weight may be attributable to genetic factors. To date, two genome-wide scans using different obesity-related quantitative traits have provided candidate regions for obesity. We have undertaken a genome-wide scan in affected sibpairs to identify chromosomal regions linked to obesity in a collection of French families. Model-free multipoint linkage analyses revealed evidence for linkage to a region on chromosome 10p (MLS=4.85). Two further loci on chromosomes 5cen-q and 2p showed suggestive evidence for linkage of serum leptin levels in a genome-wide context. The peak on chromosome 2 coincided with the region containing the gene (POMC) encoding pro-opiomelanocortin, a locus previously linked to leptin levels and fat mass in a Mexican-American population and shown to be mutated in obese humans. Our results suggest that there is a major gene on chromosome 10p implicated in the development of human obesity, and the existence of two further loci influencing leptin levels.
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Cromosomas Humanos Par 10/genética , Obesidad/genética , Alelos , Mapeo Cromosómico , Femenino , Frecuencia de los Genes , Ligamiento Genético , Marcadores Genéticos , Genoma Humano , Genotipo , Humanos , Leptina , Masculino , Obesidad/sangre , Fenotipo , Proteínas/genética , Proteínas/metabolismo , Carácter Cuantitativo HeredableRESUMEN
INTRODUCTION: Several studies suggest the relevance of healthcare simulation to prepare future doctors to deliver bad news. A such, we designed a role-play workshop to train first-year residents enrolled in Lille University School of Medicine to break bad news. The objective of this work is to report on our experience of this training and to assess its educational value through its capacity to satisfy residents' expectations, to induce a feeling of ease towards bad news disclosure, and to change trainees' preconceptions regarding these situations. METHODS: The training consisted of a 45-minute heuristic reflective activity, aimed at identifying residents' preconceptions regarding bad news disclosure, followed by 4 30-min role-plays in which they played the parts of the physician, the patient and/or their relatives. Trainees were asked to answer 2 questionnaires (pre- and post-training), exploring previous experiences, preconceived ideas regarding bad news disclosure and workshop satisfaction. RESULTS: Almost all residents felt very satisfied with the workshop, which they regarded as formative (91%) and not too stressful (89%). The majority felt "more capable" (53% vs. 83%) and "more comfortable" (27% vs. 62%) to deliver bad news, especially regarding "finding the right words" (12% vs. 22%). Trainees tended to overestimate their skills before the workshop and lowered their assessment of their performance after attending the training, especially when they played the role of a patient in the simulation. CONCLUSION: Healthcare role-play seems an interesting technique for training to breaking bad news. Placing residents in the role of patients or relatives is an active approach that encourages reflexivity.
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Internado y Residencia , Relaciones Médico-Paciente , Humanos , Revelación de la Verdad , Universidades , EscolaridadRESUMEN
INTRODUCTION: Coronaritis is a rare but serious complication of giant-cell arteritis (GCA), with an estimated prevalence of less than 1%, however difficult to establish, and of early onset. METHODS: We describe 2 cases of GCA presenting with coronaritis and present a review of the literature on this complication. RESULTS: The first patient presented with stable angina on common trunk coronaritis with ostial stenosis. Corticosteroid combined with tocilizumab from the outset resulted in improvement. Angioplasty was performed at 6months with good outcome. The second patient presented with asymptomatic tritruncular ostial coronaritis. Corticosteroid allowed clinic-biological improvement of GCA. Two years later, he presented relapse with an acute coronary syndrome, with favorable evolution after angioplasty, increase of corticosteroids and addition of tocilizumab. CONCLUSION: Patients presented were successfully treated with corticosteroids combined with tocilizumab and angioplasty of their coronary stenoses. Efficacy of tocilizumab in GCA has not been evaluated especially on coronaritis due to the rarity of this complication. Our experience and the cases reported in the literature suggest good results of angioplasty in this indication. Studies with long-term follow-up will be necessary to evaluate the risk of restenosis.