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Aragones J.M.,University of Vic | Altimiras J.,University of Vic | Roura-Poch P.,University of Vic | Homs E.,University of Vic | And 6 more authors.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | Year: 2016

Our objective was to determine the age-specific incidence and clinical-epidemiological characteristics of an amyotrophic lateral sclerosis (ALS) cohort of patients in Catalonia (Spain). New cases diagnosed between 1 January 2004 and 31 December 2013 were 41 (20 males and 21 females), with an annual crude incidence rate of 2.7 per 100,000 person-years (95% CI 1.90–3.59). The incidence rate increased with age reaching a peak in the age group of 70–79 years. There was a non-significant decrease in the incidence rate in the group of patients over 80 years (p-value = 0.75) at 17.99 per 100,000 person years (95% CI 7.81–28.17). The percentage of patients over 80 years of age was 29.3% and over age 85 years was 9.8%. The prevalence rate at the end of the study period was 8.38/100,000 of the total population. Mean age at symptom onset was 76.0 years. Onset of symptoms was bulbar or generalized in 36.6% of cases. In conclusion, ALS incidence in Osona is within the range of other countries across Europe. Our results suggest that the age-specific incidence rate of ALS increases with age through the oldest age groups suggesting an age-risk effect to develop the disease. © 2016 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases Source


Background and objective: Around 75% of the population in our country will die as a consequence of chronic advanced diseases. Advanced chronic care is one of the major challenges for public health systems. This study describes the development of a tool to identify patients with advanced chronic diseases and life limited prognosis that might require some type of palliative intervention in our health and social environment. Material and methods: Spanish translation of PIG/GSF, cultural and clinical adaptation, identification of indicators of severity and progression -general and specific-; study of content validity and pre-test. Results: The NECPAL CCOMS-ICO© tool proposes a quantitative-qualitative, multifactorial, indicative and not dichotomous evaluation combining subjective perception assessment (surprise question) with demand and perceived needs; parameters of severity and progression, geriatric syndromes, emotional aspects, comorbidity and use of resources; and indicators for selected pathologies. Conclusions: The NECPAL CCOMS-ICO© tool, feasible and easy to use, would identify patients with advanced chronic palliative needs of any cause, early and in all resources. © 2012 Elsevier España, S.L. All rights reserved. Source


Molist Brunet N.,Acute Geriatric Units | Espaulella Panicot J.,Hospital de la Santa Creu | Sevilla-Sanchez D.,Hospital General de Vic | Amblas Novellas J.,Hospital General de Vic | And 3 more authors.
European Geriatric Medicine | Year: 2015

Older patients with multimorbidity usually present with progressively worse impairment, resulting in a limited life prognosis. Consequently, drug therapy, which was previously appropriate can become inappropriate and be associated with negative health outcomes. The main objective is to identify inappropriate prescriptions in older patients and to optimize them according to patient directed care goals, established through the application of the patient-centered prescription model, which is based on a shared decision-making process including the patient, physicians and a clinical pharmacist. This was a prospective observational study of patients admitted to an Acute Care Elderly Unit. Comprehensive Geriatric Assessment was applied to each patient in order to identify advanced frailty as an indicator of an end of life situation. In order to identify inappropriate prescriptions, each patient's pharmacotherapeutic plan was assessed by applying the Patient-Centered Prescription Model, a three-step process: (i) patient centered assessment, where care goals were established, setting the stage for the second and third steps; (ii) diagnosis-centered assessment; (iii) medication-centered assessment. Three hundred and nine patients (mean age 86.7 years) were included. Inappropriate prescribing occurred in 39.8% of patients, more frequently amongst end-of-life patients (47.2%) (P < 0.05). During admission, 93.4% of patients with inappropriate prescriptions received an optimized therapeutic plan. A high prevalence of inappropriate prescriptions among patients with multimorbidity was detected, especially in patients at end of life. The patient-centered prescription model helps to identify frail patients on potentially inappropriate prescriptions by means of a holistic review of each patient's situation, in a shared decision-making process. © 2015 Elsevier Masson SAS and European Union Geriatric Medicine Society. All rights reserved. Source


Santin S.,Autonomous University of Barcelona | Fraga G.,Hospital de la Santa Creu | Ruiz P.,Autonomous University of Barcelona | Pardo N.,Hospital de la Santa Creu i Sant Pau | And 5 more authors.
Clinical Nephrology | Year: 2011

Wilms' tumor suppressor gene (WT1) encodes a transcription factor required for normal development of the genitourinary system. Germline WT1 mutations have been described in a wide spectrum of pathological conditions, including kidney diseases, genital abnormalities and Wilms' tumor. Here we report a 4-year-old male patient who presented with bilateral cryptorchidism, Wilms' tumor, nephroblastomatosis and renal failure without nephrotic proteinuria. Sequence analysis of the WT1 gene demonstrated a constitutional heterozygous nonsense mutation in exon 7, which leads to a truncation of the WT1 protein at the zinc-finger 1. In the DNA of the tumor, we observed the same mutation in homo/hemizygosity. Given the requirement of WT1 for normal development, the WT1 mutation is likely to be responsible for the nephroblastomatosis and, inconsequence, for the severe renal failure observed in our patient. This finding extends the spectrum of kidney diseases related to WT1 mutations and points to the need to screen for this gene in children with genitourinary abnormalities and Wilms' tumor because of the associated risk of nephroblastomatosis and renal failure in those carrying WT1 mutations. © 2011 Dustri-Verlag Dr. K. Feistle ISSN 0301-0430. Source


Molist Brunet N.,Hospital de la Santa Creu | Sevilla-Sanchez D.,Hospital de la Santa Creu | Amblas Novellas J.,Hospital de la Santa Creu | Codina Jane C.,Hospital Clinic de Barcelona | And 3 more authors.
European Geriatric Medicine | Year: 2014

Background Advanced dementia is a prevalent health problem in geriatric patients. These patients usually suffer from several chronic diseases, frequently leading to an end-of-life situation lasting months or years, generating complex and often inappropriate medication regimens. Objectives Describe the re-orientation of drug therapy in patients with advanced dementia utilizing a systematic medication review process. Methods This non-experimental pre-post analysis included all patients with advanced dementia admitted to acute geriatric unit (AGU) over one year. Medications were reviewed by a multidisciplinary team and together with the patient caregivers; new therapeutic objectives based on end-of-life care principles were established. Medications were classified as preventive, therapeutic, or symptomatic. The average number of medications per patient pre- and post-admission was compared. Results We included 73 patients (mean age 86.1 years, mean Barthel Index: 14.5/100). At admission, patients had a mean of 7.27 drugs compared to 4.82 at discharge (66.85% reduction, P < 0.05). The main drugs withdrawn were cardiovascular and hematological (35.76%). Drugs for prevention decreased by 66.85% (from 1.8 to 0.6, P < 0.05) and those for symptomatic care decreased by 17,52% (from 2.34 to 1.93, P < 0.05). Conclusion Medication therapy plans in patients with advanced dementia often do not meet their therapeutic goals. The proposed methodology is a useful tool to assess therapeutic appropriateness. © 2013 Elsevier Masson SAS and European Union Geriatric Medicine Society. Source

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