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1.
Trials ; 22(1): 291, 2021 Apr 20.
Article in English | MEDLINE | ID: mdl-33879224

ABSTRACT

Having access to parenting interventions in the early years is key to improve the developmental outcomes of children with neurodevelopmental problems. The Incredible Years® (IY) Parent Program is a group intervention that has demonstrated efficacy in terms of reducing stress in parents, as well as improving behavioral, emotional, and social outcomes in children. The program has been recently adapted for families of children with autism or language delays (IY-ASLD®). This intervention has not yet been implemented in the Spanish Public Health System, where there is a scarcity of evidence-based interventions being offered to families with young children presenting neurodevelopmental problems. The main aims of this study are to determine the feasibility of implementing the IY-ASLD® program within Spanish Child Mental Health Services and to examine parents' acceptability and satisfaction with the intervention. As a secondary objective, we aim to evaluate its preliminary effectiveness in terms of reducing parental stress and behavioral difficulties in their children. The FIRST STEPS study is a multicenter, pilot randomized controlled trial comparing the IY-ASLD® program with a treatment-as-usual (TAU) condition. Approximately 70 families of children with autism spectrum disorder (ASD) and preterm children with communication and/or socialization difficulties (aged 2-5 years) will be recruited. Families will be assessed prior to randomization and after the intervention. Due to the COVID-19 pandemic, the intervention will consist of 22 weekly online sessions (approximately 6 months). The FIRST STEPS pilot trial will demonstrate the feasibility and acceptability of reliably implementing the IY-ASLD® program within the Spanish Public Health System. The results of this study could represent the first step to inform policymakers in Spain when designing evidence-based healthcare pathways for families of children presenting ASD symptoms or neurodevelopmental difficulties at early stages. TRIAL REGISTRATION: ClinicalTrials.gov NCT04358484 . Registered on 04 April 2020.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Communication , Socialization , Autism Spectrum Disorder/therapy , Autistic Disorder/therapy , Child , Child, Preschool , Humans , Multicenter Studies as Topic , Parenting , Parents , Pilot Projects , Premature Birth , Randomized Controlled Trials as Topic , Spain
2.
Front Neurol ; 11: 575634, 2020.
Article in English | MEDLINE | ID: mdl-33193025

ABSTRACT

Background and Objective: Oral anticoagulation (OAC) for secondary stroke prevention is recommended in atrial fibrillation (AF) and other sources of cardioembolic stroke. Our objectives were to explore the differences in ischemic and hemorrhagic events when using OAC for secondary stroke prevention according to the type of anticoagulant treatment and to analyze the number and reasons for OAC switches during long-term follow-up. Methods: Ischemic stroke (IS) patients who were discharged on OAC for secondary stroke prevention from January 2014 to October 2017 were recruited in a prospective, multicenter, hospital-based registry. Follow-up at 3 months was scheduled at the outpatient clinic with subsequent annual phone interviews for 3 years. Patients were classified into three study groups according to OAC at discharge: Vitamin K antagonist (VKA), Factor Xa inhibitor (FXa), or direct thrombin inhibitor (DTI). We compared stroke recurrences, intracranial hemorrhage, major bleeding, and all-cause mortality during the follow-up. We recorded any switches in OAC and the main reasons for the change. Results: A total of 241 patients were included. An anticoagulant was indicated in the presence of a source of cardioembolic stroke in 240 patients (99.6%) and lupus plus antiphospholipid syndrome in one patient. Up to 86 patients (35.6%) were on OAC before the index stroke; in 71 (82.5%) of them, this was VKA. At hospital discharge, 105 were treated with FXa (43.8%), 96 with VKA (39.6%), and 40 with DTI (16.6%). The cumulative incidences at 3 years were 17% for stroke recurrence, 1.6% for intracranial hemorrhage, 4.9% for major hemorrhage, and 22.8% for all-cause mortality, with no differences among the OAC groups in any outcomes. During the follow-up, 40 OAC switches were recorded (63% of them to FXa), mostly due to stroke recurrence. Conclusion: Long-term OAC in secondary stroke prevention is associated with a lower frequency of bleeding complications than stroke recurrences. No differences between anticoagulant drugs were found in any of the analyzed outcomes. The main cause for OAC switch during follow-up was stroke recurrence.

3.
Rev. lab. clín ; 12(3): e9-e24, jul.-sept. 2019. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-187161

ABSTRACT

La preeclampsia (PE) constituye una de las principales causas de mortalidad materna y perinatal en el mundo. En los países desarrollados, los estudios apuntan a un importante aumento de la incidencia de PE en la última década, en parte, por el aumento de la prevalencia, en la población general, de enfermedades que afectan a la función vascular, como la diabetes, la hipertensión crónica o la enfermedad renal. En el presente documento se lleva cabo una revisión actualizada de la PE. Se describen los criterios diagnósticos y la fisiopatología de la enfermedad. El objetivo principal del documento es revisar los nuevos marcadores bioquímicos que pueden ser de utilidad en la práctica clínica para la predicción y el diagnóstico de la PE, así como los distintos métodos mediante los cuales se puede llevar a cabo su determinación


Pre-eclampsia (PE) is one of the leading causes of maternal and perinatal mortality in the world. In developed countries, studies point to a significant increase in the incidence of PE in the last decade, partly due to the increase in the prevalence in the general population of diseases that affect vascular function, such as diabetes. chronic hypertension, or kidney disease. An updated review of PE is presented in this article. The diagnostic criteria and the pathophysiology of the disease are described. The main objective of the document is to review the new biochemical markers that may be useful in clinical practice for the prediction and diagnosis of PE, as well as the different methods by which yey can be determined


Subject(s)
Humans , Pre-Eclampsia/diagnosis , Placenta Growth Factor/analysis , Proteinuria/diagnosis , Angiogenesis Inhibitors/analysis , Angiogenic Proteins/analysis , Vascular Endothelial Growth Factors/analysis , Biomarkers/analysis , Clinical Chemistry Tests/methods , Predictive Value of Tests , Risk Factors , Mass Screening/methods
5.
Nat Genet ; 45(9): 1077-82, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23913003

ABSTRACT

Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor ß (PDGF-Rß) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-Rß. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.


Subject(s)
Basal Ganglia Diseases/genetics , Basal Ganglia Diseases/pathology , Calcinosis/genetics , Mutation , Proto-Oncogene Proteins c-sis/genetics , Amino Acid Substitution , Animals , Basal Ganglia Diseases/diagnosis , Brain/metabolism , Brain/pathology , Disease Models, Animal , Female , Gene Order , Humans , Magnetic Resonance Imaging , Male , Mice , Mice, Knockout , Pedigree , Tomography, X-Ray Computed
6.
Neuro Oncol ; 15(6): 797-805, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23460319

ABSTRACT

BACKGROUND: To assess management patterns and outcome in patients with glioblastoma multiforme (GBM) treated during 2008-2010 in Spain. METHODS: Retrospective analysis of clinical, therapeutic, and survival data collected through filled questionnaires from patients with histologically confirmed GBM diagnosed in 19 Spanish hospitals. RESULTS: We identified 834 patients (23% aged >70 years). Surgical resection was achieved in 66% of patients, although the extent of surgery was confirmed by postoperative MRI in only 41%. There were major postoperative complications in 14% of patients, and age was the only independent predictor (Odds ratio [OR], 1.03; 95% confidence interval [CI],1.01-1.05; P = .006). After surgery, 57% received radiotherapy (RT) with concomitant and adjuvant temozolomide, 21% received other regimens, and 22% were not further treated. In patients treated with surgical resection, RT, and chemotherapy (n = 396), initiation of RT ≤42 days was associated with longer progression-free survival (hazard ratio [HR], 0.8; 95% CI, 0.64-0.99; P = .042) but not with overall survival (HR, 0.79; 95% CI, 0.62-1.00; P = .055). Only 32% of patients older than 70 years received RT with concomitant and adjuvant temozolomide. The median survival in this group was 10.8 months (95% CI, 6.8-14.9 months), compared with 17.0 months (95% CI, 15.5-18.4 months; P = .034) among younger patients with GBM treated with the same regimen. CONCLUSIONS: In a community setting, 57% of all patients with GBM and only 32% of older patients received RT with concomitant and adjuvant temozolomide. In patients with surgical resection who were eligible for chemoradiation, initiation of RT ≤42 days was associated with better progression-free survival.


Subject(s)
Antineoplastic Agents, Alkylating/therapeutic use , Brain Neoplasms/mortality , Dacarbazine/analogs & derivatives , Glioblastoma/mortality , Practice Patterns, Physicians' , Adult , Aged , Aged, 80 and over , Brain Neoplasms/diagnosis , Brain Neoplasms/epidemiology , Brain Neoplasms/therapy , Combined Modality Therapy , Dacarbazine/therapeutic use , Female , Follow-Up Studies , Glioblastoma/diagnosis , Glioblastoma/epidemiology , Glioblastoma/therapy , Humans , Male , Middle Aged , Neoplasm Grading , Prognosis , Retrospective Studies , Spain/epidemiology , Survival Rate , Temozolomide , Time Factors , Young Adult
7.
Lab Invest ; 82(2): 123-32, 2002 Feb.
Article in English | MEDLINE | ID: mdl-11850526

ABSTRACT

Knowledge about the molecular mechanisms involved in the pathogenesis of tumoral progression in mycosis fungoides (MF) is still scarce. Because the 9p21 locus seems to be a good target for a detailed study in MF, this prompted us to compare the mechanisms of inactivation of the p16(INK4a), p15(INK4b), and p14(ARF) genes in aggressive and stable forms of MF, performing microsatellite analysis, methylation-specific polymerase chain reaction, direct sequencing, and p16(INK4a) protein expression by immunohistochemistry. Additionally, the p53 gene was also sequenced in tumoral lesions. Thirty-nine patients with stable MF were studied. Alterations in p16(INK4a) and p15(INK4b) genes were detected in 18% and 5% of the cases, respectively. None of the cases analyzed showed alterations of the p14(ARF) gene. In contrast with these findings, in the 11 patients with aggressive MF, alterations of the p16(INK4a), p15(INK4b), or p14(ARF) genes were found in 8 (73%), 3 (27%), and 2 (18%) cases, respectively. A significant proportion (4/11) of these alterations were already present in the p16(INK4a) gene in the initial plaque lesions in these aggressive forms of MF. Alterations in the p16(INK4a) gene, either methylation or loss of heterozygosity, were clearly more frequent than those in the p15(INK4b) and p14(ARF) genes. These p16(INK4A) alterations were confirmed using immunohistochemistry. None of the nine tumoral lesions analyzed showed mutations in exons 1-2 of the p16(INK4a) gene or in exons 5-8 of the p53 gene. These results seem to suggest that 9p21 alterations, and selectively p16(INK4a) silencing, could be a characteristic phenomenon in MF progression.


Subject(s)
Cyclin-Dependent Kinase Inhibitor p16/genetics , Gene Silencing , Mycosis Fungoides/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Chromosomes, Human, Pair 9 , DNA Methylation , Female , Humans , Immunohistochemistry , Loss of Heterozygosity , Male , Middle Aged , Mutation , Mycosis Fungoides/pathology
8.
Acta neurol. colomb ; 17(1): 28-31, mar. 2001.
Article in Spanish | LILACS | ID: lil-307272

ABSTRACT

Se llevó a cabo un estudio prospectivo de 415 pacientes con ictus ingresados consecutivamente durante un año. Se excluyeron la isquemia transitoria y la hemorragia subaracnoidea. Se analizó edad, sexo, factores de riesgo, gravedad, mortalidad y pronóstico funcional a la semana. De los 415 pacientes 354 fueron diagnosticados de infarto cerebral y 61 de hemorragia parenquimatosa. El factor de riesgo más frecuente fue la hipertensión arterial. Padecían DM 95 pacientes. El análisis bi y multivariante determina como variables indpendientes asociadas a la DM el debut de la patología cerebrovascular en edades más jóvenes (p=0,009), la asociación a hipertensión arterial (p=0,002) y la peor calidad de vida previa (p=0,003). No se encontró mayor frecuencia de infartos lacunares entre los pacientes diabéticos. El paciente diabético es más jóven y con frecuencia asocia hipertensión. No existen diferencias en cuanto a la mortalidad y tipo de ACV. Tampoco se encontró una relación significativa con el infarto lacunar


Subject(s)
Cerebrovascular Disorders , Diabetes Mellitus
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