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3.
Neurología (Barc., Ed. impr.) ; 36(9): 692-697, noviembre-diciembre 2021. tab, graf
Article in Spanish | IBECS | ID: ibc-220132

ABSTRACT

Objetivos: El cuestionario Migraine Disability Assessment (MIDAS) es el instrumento más empleado para valorar el grado de discapacidad en los estudios de migraña. El objetivo del estudio es determinar el nivel de cumplimentación del cuestionario, valorar su facilidad de uso y conocer la percepción subjetiva del paciente sobre la capacidad del cuestionario para medir realmente su discapacidad.Material y métodosEstudio prospectivo sobre una población de 78 pacientes con migraña crónica. Se determina el nivel educativo y la situación laboral. En la visita basal se adiestra a los pacientes sobre la correcta cumplimentación del cuestionario. A los 3 meses se determina la puntuación total y el nivel de cumplimentación. Además los pacientes contestan una encuesta que mide: facilidad de uso y percepción del paciente sobre si la escala refleja su propia discapacidad.ResultadosSolo el 46% rellena completamente el cuestionario. El 69% de los pacientes indica que el cuestionario no les resulta fácil de cumplimentar (resultado no influido por el nivel educativo, pero sí por la situación laboral de los pacientes). El 62% de los encuestados opina que el cuestionario no refleja completamente su propia percepción de discapacidad.ConclusionesAunque está más que demostrada la validez y consistencia del cuestionario MIDAS, un porcentaje elevado de nuestra población reconoce que el cuestionario no es fácil de rellenar y además es percibido por muchos de nuestros pacientes como un cuestionario que no refleja adecuadamente su discapacidad. Conocer la opinión de los pacientes sobre la idoneidad de los cuestionarios administrados en las consultas es crucial para mejorar su cumplimentación. (AU)


Objectives: The Migraine Disability Assessment (MIDAS) questionnaire is the most frequently used instrument for assessing the level of disability in studies into migraine. This study aims to determine the level of completion of the questionnaire, assess the ease of use, and understand patients’ subjective perception of the questionnaire's actual ability to measure disability.Material and methodsWe performed a prospective study of a sample of 78 patients with chronic migraine, determining their level of education and employment status. In a baseline visit, patients were trained to properly complete the questionnaire. At 3 months, we determined the total score and level of completion. Patients also completed a survey measuring ease of use of the questionnaire and patients’ perception of whether the score accurately reflected their disability.ResultsOnly 46% of patients fully completed the questionnaire. Sixty-nine percent reported finding it difficult to complete (this was influenced by patient's employment status but not by educational level). Sixty-two percent of respondents believed that the questionnaire did not fully reflect their own perception of their disability.ConclusionsAlthough the validity and consistence of the MIDAS questionnaire are well documented, a high percentage of the study population reported finding it difficult to complete; many patients also considered that the questionnaire did not accurately reflect their disability. Understanding patients’ opinions of the suitability of questionnaires used in consultation is crucial to improving completion. (AU)


Subject(s)
Humans , Migraine Disorders/diagnosis , Auditory Perception , Headache , Prospective Studies , Surveys and Questionnaires
4.
Neurologia (Engl Ed) ; 36(9): 692-697, 2021.
Article in English | MEDLINE | ID: mdl-34752347

ABSTRACT

OBJECTIVES: The Migraine Disability Assessment (MIDAS) questionnaire is the most frequently used instrument for assessing the level of disability in studies into migraine. This study aims to determine the level of completion of the questionnaire, assess the ease of use, and understand patients' subjective perception of the questionnaire's actual ability to measure disability. MATERIAL AND METHODS: We performed a prospective study of a sample of 78 patients with chronic migraine, determining their level of education and employment status. In a baseline visit, patients were trained to properly complete the questionnaire. At 3 months, we determined the total score and level of completion. Patients also completed a survey measuring ease of use of the questionnaire and patients' perception of whether the score accurately reflected their disability. RESULTS: Only 46% of patients fully completed the questionnaire. Sixty-nine percent reported finding it difficult to complete (this was influenced by patient's employment status but not by educational level). Sixty-two percent of respondents believed that the questionnaire did not fully reflect their own perception of their disability. CONCLUSIONS: Although the validity and consistence of the MIDAS questionnaire are well documented, a high percentage of the study population reported finding it difficult to complete; many patients also considered that the questionnaire did not accurately reflect their disability. Understanding patients' opinions of the suitability of questionnaires used in consultation is crucial to improving completion.


Subject(s)
Disability Evaluation , Migraine Disorders , Humans , Migraine Disorders/diagnosis , Perception , Prospective Studies , Surveys and Questionnaires
5.
An. sist. sanit. Navar ; 43(1): 93-97, ene.-abr. 2020. ilus
Article in Spanish | IBECS | ID: ibc-193682

ABSTRACT

La miocardiopatía periparto (MCPP) es una miocardiopatía idiopática que cursa con insuficiencia cardiaca secundaria a disfunción de ventrículo izquierdo al final del embarazo o en los primeros meses tras el parto. El diagnóstico se realiza mediante electrocardiograma, radiografía de tórax y aumento de péptidos natriuréticos. La ecografía a pie de cama puede aportar datos que ayuden al diagnóstico precoz. El tratamiento se realiza siguiendo las guías clínicas de insuficiencia cardiaca, con la precaución de manejo de los fármacos potencialmente teratogénicos. La importancia de esta patología radica en que afecta a mujeres en edad fértil y en que es potencialmente mortal, por lo que debe mantenerse un elevado índice de sospecha para su diagnóstico y realizar diagnóstico diferencial con otras entidades. En esta nota clínica presentamos una serie de casos de MCPP con el objetivo de revisar el diagnóstico y el tratamiento de esta entidad


Peripartum cardiomyopathy (PPCM) is an idiopathic cardiomyopathy that is caused by heart failure secondary to a dysfunction of the left ventricle at the end of pregnancy or in the first months following childbirth. The diagnosis is performed by electrocardiogram, radiography of the thorax and increase of natriuretic peptides. Bedside radiography can contribute with data that help early diagnosis. Treatment is carried out following clinical guidelines for heart failure, taking into account potentially teratogenic drugs. The importance of this pathology lies in that it affects women at a fertile age and is potentially mortal, which is why there must be a high index of suspicion for its diagnosis and a differential diagnosis with other entities. In this clinical note we present a series of cases of PPCM with the goal of reviewing the diagnosis and treatment of this entity


Subject(s)
Humans , Female , Pregnancy , Adult , Cardiomyopathies/complications , Cardiomyopathies/diagnostic imaging , Peripartum Period , Electrocardiography , Early Diagnosis , Heart Failure/therapy , Diagnosis, Differential
6.
An Sist Sanit Navar ; 43(1): 93-97, 2020 Apr 20.
Article in Spanish | MEDLINE | ID: mdl-32176218

ABSTRACT

Peripartum cardiomyopathy (PPCM) is an idiopathic cardiomyopathy that is caused by heart failure secondary to a dysfunction of the left ventricle at the end of pregnancy or in the first months following childbirth. The diagnosis is performed by electrocardiogram, radiography of the thorax and increase of natriuretic peptides. Bedside radiography can contribute with data that help early diagnosis. Treatment is carried out following clinical guidelines for heart failure, taking into account potentially teratogenic drugs. The importance of this pathology lies in that it affects women at a fertile age and is potentially mortal, which is why there must be a high index of suspicion for its diagnosis and a differential diagnosis with other entities. In this clinical note we present a series of cases of PPCM with the goal of reviewing the diagnosis and treatment of this entity.


Subject(s)
Cardiomyopathies/diagnosis , Puerperal Disorders/diagnosis , Adult , Cardiomyopathies/drug therapy , Echocardiography , Female , Heart Failure/etiology , Humans , Puerperal Disorders/drug therapy , Ventricular Dysfunction, Left/complications
7.
Neuroophthalmology ; 44(1): 45-48, 2020 Feb.
Article in English | MEDLINE | ID: mdl-32076450

ABSTRACT

Homonymous hemianopia is frequently associated with retrochiasmal lesions. Vascular etiology is the most common and usually evident on magnetic resonance imaging. When the results of neuroimaging are normal, there are other etiologies that we should consider, like nonketotic hyperglycemia (NKH). We report a 62-year-old female diabetic patient with headache, colour vision and sudden homonymous inferior quadrantanopia and elevated blood sugar levels with normal pH. The neuroimaging was normal and the visual lost improved after the correction of the hyperglycemia. NKH should be considered in patients with sudden and transient hemianopia and normal neuroimaging.

8.
Neurologia (Engl Ed) ; 2018 Nov 16.
Article in English, Spanish | MEDLINE | ID: mdl-30455123

ABSTRACT

OBJECTIVES: The Migraine Disability Assessment (MIDAS) questionnaire is the most frequently used instrument for assessing the level of disability in studies into migraine. This study aims to determine the level of completion of the questionnaire, assess the ease of use, and understand patients' subjective perception of the questionnaire's actual ability to measure disability. MATERIAL AND METHODS: We performed a prospective study of a sample of 78 patients with chronic migraine, determining their level of education and employment status. In a baseline visit, patients were trained to properly complete the questionnaire. At 3 months, we determined the total score and level of completion. Patients also completed a survey measuring ease of use of the questionnaire and patients' perception of whether the score accurately reflected their disability. RESULTS: Only 46% of patients fully completed the questionnaire. Sixty-nine percent reported finding it difficult to complete (this was influenced by patient's employment status but not by educational level). Sixty-two percent of respondents believed that the questionnaire did not fully reflect their own perception of their disability. CONCLUSIONS: Although the validity and consistence of the MIDAS questionnaire are well documented, a high percentage of the study population reported finding it difficult to complete; many patients also considered that the questionnaire did not accurately reflect their disability. Understanding patients' opinions of the suitability of questionnaires used in consultation is crucial to improving completion.

12.
J Viral Hepat ; 24(6): 464-471, 2017 06.
Article in English | MEDLINE | ID: mdl-27976490

ABSTRACT

Limited data are available on direct-acting antivirals for treating hepatitis C virus (HCV) infection in patients with severe renal impairment. The aim of this study was to evaluate the effectiveness and safety of ombitasvir/paritaprevir/ritonavir (OBV/PTV/r) ± dasabuvir (DSV) ± ribavirin (RBV) in patients with stage 4 or 5 chronic kidney disease (CKD) and HCV genotype 1 or 4 infection in real clinical practice, and to investigate pharmacological interactions. This retrospective study included patients treated with OBV/PTV/r+DSV±RBV or OBV/PTV/r+RBV with CKD stage 4 (eGFR: 15-29 mL/min/1.73m2 ) or 5 (eGFR<15 mL/min/1.73m2 or requiring dialysis) and HCV infection by genotypes 1 and 4 between April 2015 and October 2015 in nine Spanish centres. Sustained virological response at 12 weeks (SVR12) was assessed, and clinical and laboratory data, fibrosis stage, adverse events and pharmacological interactions were reported. Forty-six patients were included: 10 (21.7%) had CKD stage 4 and 36 (78.2%) CKD stage 5. Seventeen (36.9%) had cirrhosis. SVR12 rate in the intention-to-treat population was 95.7%. Twenty-one (45.6%) received RBV, which was discontinued in two (9.5%) patients. Anaemia (haemoglobin <10 g/dl) occurred in 12 patients (57.1%) with RBV vs 10 (40.0%) without RBV (P=.246). Renal function remained stable during antiviral therapy. Nine patients (19.5%) experienced serious adverse events unrelated to antiviral therapy. Concomitant medication was discontinued or modified in 41.3% of patients. In conclusion, the effectiveness of OBV/PTV/r±DSV±RBV in patients with CKD 4-5 was similar to that observed in those with normal renal function and was not associated with severe adverse events.


Subject(s)
Antiviral Agents/therapeutic use , Drug Therapy, Combination/methods , Hepatitis C, Chronic/complications , Hepatitis C, Chronic/drug therapy , Renal Insufficiency/complications , Renal Insufficiency/therapy , Adult , Aged , Antiviral Agents/adverse effects , Drug Interactions , Drug Therapy, Combination/adverse effects , Drug-Related Side Effects and Adverse Reactions , Female , Genotype , Hepacivirus/classification , Hepacivirus/genetics , Hepacivirus/isolation & purification , Humans , Male , Middle Aged , Retrospective Studies , Spain , Sustained Virologic Response , Treatment Outcome
13.
J Thromb Haemost ; 14(12): 2410-2418, 2016 12.
Article in English | MEDLINE | ID: mdl-27681307

ABSTRACT

Essentials Vitamin K-dependent coagulant factor deficiency (VKCFD) is a rare autosomal recessive disorder. We describe a case of inherited VKCFD due to uniparental disomy. The homozygous mutation caused the absence of GGCX isoform 1 and overexpression of Δ2GGCX. Hepatic and non-hepatic vitamin K-dependent proteins must be assayed to monitor VKCFD treatment. SUMMARY: Background Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in the γ-glutamyl carboxylase gene (GGCX) or the vitamin K epoxide reductase gene (VKORC1), with great heterogeneity in terms of both clinical presentation and response to treatment. Objective To characterize the molecular basis of VKCFD in a Spanish family. Methods and Results Sequencing of candidate genes, comparative genomic hybridization and massive sequencing identified a new mechanism causing VKCFD in the proband. Uniparental disomy (UPD) of chromosome 2 caused homozygosity of a mutation (c.44-1G>A) resulting in aberrant GGCX splicing. This change contributed to absent expression of the mRNA coding for the full-length protein, and to four-fold overexpression of the smaller mRNA isoform lacking exon 2 (Δ2GGCX). Δ2GGCX might be responsible for two unexpected clinical observations in the patient: (i) increased plasma osteocalcin levels following vitamin K1 supplementation; and (ii) a mild non-bleeding phenotype. Conclusions Our study identifies a new autosomal disease, VKCFD1, caused by UPD. These data suggest that the Δ2GGCX isoform may retain enzymatic activity, and strongly encourage the evaluation of both hepatic and non-hepatic vitamin K-dependent proteins to assess differing responses to vitamin K supplementation in VKCFD patients.


Subject(s)
Blood Coagulation , Uniparental Disomy , Vitamin K Epoxide Reductases/deficiency , Vitamin K/metabolism , Carbon-Carbon Ligases/genetics , Comparative Genomic Hybridization , Female , Hemostasis , Homozygote , Humans , Infant , Loss of Heterozygosity , Male , Mutation , Phenotype , Promoter Regions, Genetic , RNA, Messenger/metabolism , Spain , Vitamin K Epoxide Reductases/genetics
16.
Acta Neurol Scand ; 132(2): 143-6, 2015 Aug.
Article in English | MEDLINE | ID: mdl-25828425

ABSTRACT

OBJECTIVE: Although ocular side effects of topiramate are common, neuroophthalmologic manifestations such as blepharospasm, myokymia and oculogyric crisis are scarcely reported. METHODS: We present a serie of 8 patients with migraine who developed eyelid myokymia after treatment with topiramate. We reviewed all patients with migraine treated with topiramate attending the headache outpatient clinic of our hospital from January 2008 to December 2012. RESULTS: During the study period, a total of 140 patients with migraine were treated with topiramate in our headache clinic. Eight presented eyelid myokymia after beginning treatment with topiramate (5,7%). Topiramate was stopped and myokymia disappeared in all patients, it was prescribed again and eyelid myokymia reappeared with their previous characteristics in all patients. CONCLUSIONS: Eyelid myokymia is an underreported side-effect of topiramate in patients with migraine, of unknown cause, so that in future, further studies are need to examine whether patients with migraine are predisposed or not to this adverse effect.


Subject(s)
Eyelids/drug effects , Fructose/analogs & derivatives , Migraine Disorders/drug therapy , Myokymia/chemically induced , Adolescent , Adult , Female , Fructose/adverse effects , Humans , Male , Middle Aged , Topiramate
17.
Plant Dis ; 99(8): 1153-1160, 2015 Aug.
Article in English | MEDLINE | ID: mdl-30695943

ABSTRACT

The Kenyan wheat (Triticum aestivum L.) 'Kenya Kongoni' exhibits high levels of adult plant resistance (APR) to leaf rust (LR) and yellow rust (YR). We determined the genomic regions associated with LR and YR resistance in a population of 148 recombinant inbred lines generated from a cross between 'Avocet-YrA' and Kenya Kongoni. Field experiments to characterize APR to LR and YR were conducted in four and two Mexican or Uruguayan environments, respectively. A linkage map was constructed with 438 diversity arrays technology and 16 simple-sequence repeat markers by JoinMap 4.1 software. Genetic analyses showed that resistance to both rusts was determined by four to five APR genes, including Lr46/Yr29 and Sr2/Lr27/Yr30. Quantitative trait loci (QTL) analysis indicated that pleiotropic APR loci QYLr.cim-1BL corresponding to Lr46/Yr29 and QYLr.cim-7BL that is a putative novel QTL accounted for 5 to 57% and 12 to 35% of the phenotypic variation for resistance to LR and YR, respectively. These loci, in combination with another three LR QTL and two YR QTL, respectively, conferred high levels of resistance to both LR and YR in wheat under Mexican and Uruguayan environments. Among other detected QTL, QLr.cim-1DS, QLr.cim-2BL, and QYLr.icm-7BL may be new loci for APR to both rusts in common wheat.

18.
Int J Lab Hematol ; 37(3): 334-40, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25181647

ABSTRACT

INTRODUCTION: Various indices derived from red blood cell (RBC) parameters have been described for distinguishing thalassemia and iron deficiency. We studied the microcytic to hypochromic RBC ratio as a discriminant index in microcytic anemia and compared it to traditional indices in a learning set and confirmed our findings in a validation set. METHODS: The learning set comprised samples from 371 patients with microcytic anemia mean cell volume (MCV < 80 fL), which were measured on a CELL-DYN Sapphire analyzer and various discriminant functions calculated. Optimal cutoff values were established using ROC analysis. These values were used in the validation set of 338 patients. RESULTS: In the learning set, a microcytic to hypochromic RBC ratio >6.4 was strongly indicative of thalassemia (area under the curve 0.948). Green-King and England-Fraser indices showed comparable area under the ROC curve. However, the microcytic to hypochromic ratio had the highest sensitivity (0.964). In the validation set, 91.1% of microcytic patients were correctly classified using the M/H ratio. CONCLUSIONS: Overall, the microcytic to hypochromic ratio as measured in CELL-DYN Sapphire performed equally well as the Green-King index in identifying thalassemia carriers, but with higher sensitivity, making it a quick and inexpensive screening tool.


Subject(s)
Anemia, Hypochromic/blood , Anemia, Hypochromic/diagnosis , Anemia, Iron-Deficiency/blood , Anemia, Iron-Deficiency/diagnosis , Erythrocyte Indices , Anemia, Hypochromic/etiology , Diagnosis, Differential , Humans , ROC Curve , beta-Thalassemia/blood , beta-Thalassemia/diagnosis
19.
Theor Appl Genet ; 125(8): 1767-82, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22864387

ABSTRACT

This study presents the development of an enhanced map in faba bean. The map contains 258 loci, mostly gene-based markers, organized in 16 linkage groups that expand 1,875 cM, with an average inter-marker distance of 7.26 cM. The combination of EST-derived markers with a number of markers physically located or previously ascribed to chromosomes by trisomic segregation, allowed the allocation of eight linkage groups (229 markers), to specific chromosomes. Moreover, this approach provided anchor points to establish a global homology among the faba bean chromosomes and those of closely-related legumes species. The map was used to identify and validate, for the first time, QTLs controlling five flowering and reproductive traits: days to flowering, flowering length, pod length, number of seeds per pod and number of ovules per pod. Twelve QTLs stable in the 2 years of evaluation were identified in chromosomes II, V and VI. Comparative mapping suggested the conservation of one of the faba bean genomic regions controlling the character days to flowering in other five legume species (Medicago, Lotus, pea, lupine, chickpea). Additional syntenic co-localizations of QTLs controlling pod length and number of seeds per pod between faba bean and Lotus japonicus are likely. The new genetic map opens the way for further translational studies between faba bean and related legume species, and provides an efficient tool for breeding applications such as QTL analysis and marker-assisted selection.


Subject(s)
Fabaceae/genetics , Flowers/genetics , Genomics/methods , Models, Biological , Quantitative Trait Loci/genetics , Vicia faba/growth & development , Vicia faba/genetics , Chromosome Mapping , Chromosomes, Plant/genetics , Crosses, Genetic , Fabaceae/growth & development , Flowers/physiology , Genes, Plant/genetics , Genetic Linkage , Genetic Markers , Inbreeding , Quantitative Trait, Heritable , Seeds/genetics , Synteny/genetics
20.
Enferm Intensiva ; 20(3): 88-94, 2009.
Article in Spanish | MEDLINE | ID: mdl-19775565

ABSTRACT

BACKGROUND: This study aimed to verify the relationship between different Sedation Rating Scales (SRSs) for critical patients on mechanical ventilation and to know the relationship between the SRSs, clinical information and the dose of sedative and analgesia drugs (SAD). MATERIAL AND METHODS: A longitudinal, prospective analytic pilot study conducted in a Medical-Surgical Intensive Care Unit of a tertiary hospital from October-December 2006. The sample included patients who required administration of SAP and mechanical ventilation. The following biological parameters and scales were evaluated: patient's demographics, RAMSAY, Sedation Agitation Scale (SAS), Richmond Agitation Sedation Scale (RASS), Motor Activity Assessment Scale (MASS), SAD dose, mean blood pressure, cardiac rate, pupil diameter and respiratory frequency. Spearman coefficient of interrelation was used to compare the relationship between the different scales. RESULTS: A total of 2.412 measurements were made for each variable: SRS, clinical information and SAD dose in 30 patients with different diseases, 63 % males, age 52 +/- 19 years, APACHEII 24 +/- 8, SAPSII 44 +/- 16, with an ICU mortality UCI 34 %. Median and IQ range of stay in ICU 15.5 and 20 days, of mechanical ventilation 9 and 14 days, of SAD 6 and 5.5 days and of paralyzing drugs (PD) 2 and 5 days, respectively. Interrelation was detected between all the SRSs, with p < 0.0001. The relationship between SAS, RASS and MASS was direct, whereas these were related inversely to RAMSAY. No evidence of interrelation was found between the SRSs, the clinical information and the SAD doses. CONCLUSION: The RAMSAY scale that has not been validated in ICU patients has a strong interrelation with the other already validated SRSs. SRSs are subjective and do not correlate with the clinical information and the SAD doses, probably due to the sample's small size and heterogeneity.


Subject(s)
Conscious Sedation/classification , Adult , Aged , Aged, 80 and over , Critical Illness , Female , Humans , Male , Middle Aged , Prospective Studies , Young Adult
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