Validez de un registro poblacional automatizado de demencia basado en las bases de datos clínicas / Validity of a computerized population registry of dementia based on clinical databases

Introducción: El manejo de la información mediante soportes digitales permite abordajes innovadores de la identificación de los casos de demencia mediante búsquedas automatizadas en las bases de datos clínicas con sistemas de codificación de los diagnósticos. El objetivo de este trabajo fue analizar la validez de un registro de demencia en Gipuzkoa basado en los sistemas de registro administrativos y clínicos existentes en el Servicio Vasco de Salud.MétodosEs un estudio descriptivo basado en la evaluación de las fuentes de datos disponibles. Primero, mediante revisión de historias clínicas se evaluó la validez diagnóstica en 2 muestras de casos identificados y no identificados como demencia. Se midió la sensibilidad, especificidad y valor predictivo positivo y negativo del diagnóstico de demencia. Posteriormente se buscaron los casos de demencia vivos a fecha 31 de diciembre de 2016 en toda la población guipuzcoana y se recogieron variables sociodemográficas y clínicas.ResultadosLas 2 muestras de validación incluyeron 986 casos y 327 no casos. La sensibilidad calculada fue del 80,2% y la especificidad del 99,9%. El valor predictivo negativo fue del 99,4% y el positivo del 95,1%. Los casos registrados en toda la población guipuzcoana fueron 10.551 que supone un 65% de los casos previstos según la literatura. Un 40% tomaban medicación antisicótica. La población institucionalizada fue del 25%.ConclusionesUn registro de demencias basado en las bases de datos clínicas y administrativas es válido y factible. Su principal aportación es mostrar la dimensión que tiene la demencia en el ámbito del sistema sanitario. (AU)

Introduction: The handling of information through digital media allows innovative approaches for identifying cases of dementia through computerized searches within the clinical databases that include systems for coding diagnoses. The aim of this study was to analyze the validity of a dementia registry in Gipuzkoa based on the administrative and clinical databases existing in the Basque Health Service.MethodsThis is a descriptive study based on the evaluation of available data sources. First, through review of medical records, the diagnostic validity was evaluated in 2 samples of cases identified and not identified as dementia. The sensitivity, specificity and positive and negative predictive value of the diagnosis of dementia were measured. Subsequently, the cases of living dementia in December 31, 2016 were searched in the entire Gipuzkoa population to collect sociodemographic and clinical variables.ResultsThe validation samples included 986 cases and 327 no cases. The calculated sensitivity was 80.2% and the specificity was 99.9%. The negative predictive value was 99.4% and positive value was 95.1%. The cases in Gipuzkoa were 10,551, representing 65% of the cases predicted according to the literature. Antipsychotic medication were taken by a 40% and a 25% of the cases were institutionalized.ConclusionsA registry of dementias based on clinical and administrative databases is valid and feasible. Its main contribution is to show the dimension of dementia in the health system. (AU)

Validity of a computerised population registry of dementia based on clinical databases.

INTRODUCTION: The handling of information through digital media allows innovative approaches for identifying cases of dementia through computerised searches within the clinical databases that include systems for coding diagnoses. The aim of this study was to analyse the validity of a dementia registry in Gipuzkoa based on the administrative and clinical databases existing in the Basque Health Service. METHODS: This is a descriptive study based on the evaluation of available data sources. First, through review of medical records, the diagnostic validity was evaluated in two samples of cases identified and not identified as dementia. The sensitivity, specificity and positive and negative predictive value of the diagnosis of dementia were measured. Subsequently, the cases of living dementia in December 31, 2016 were searched in the entire Gipuzkoa population to collect sociodemographic and clinical variables. RESULTS: The validation samples included 986 cases and 327 no cases. The calculated sensitivity was 80.2% and the specificity was 99.9%. The negative predictive value was 99.4% and positive value was 95.1%. The cases in Gipuzkoa were 10 551, representing 65% of the cases predicted according to the literature. Antipsychotic medication were taken by a 40% and a 25% of the cases were institutionalised. CONCLUSIONS: A registry of dementias based on clinical and administrative databases is valid and feasible. Its main contribution is to show the dimension of dementia in the health system.

Neuropatía mentoniana: un difícil diagnóstico topográfico / Numb chin syndrome: a difficult topographic diagnosis

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[22q11 deletion syndrome: an expanding phenotype]. / Síndrome de deleción 22q11: un fenotipo en expansión.

INTRODUCTION: Chromosome 22q11 deletion syndrome is a syndromic complex which includes several manifestations such as cardiac defects, immunodeficiency, cleft palate and facial dysmorphic features. It is also associated with developmental delay and other neuropsychiatric symptoms. Epilepsy is an uncommon manifestation. CASE REPORT: A 15 year old female patient with a history of developmental delay and learning difficulties. She began with generalized and partial complex epileptic seizures of unknown etiology in the absence of other known risk factors for seizures. Brain magnetic resonance imaging and electroencephalographic recording were normal. Neuropsychiatric history, phenotype with nasal voice and dysmorphic features justified the study of the 22q11 deletion that was diagnostic. CONCLUSIONS: 22q11 deletion is one of the most common microdeletion chromosomal syndromes. In recent years more atypical cases are being diagnosed due to a better knowledge of the syndrome and the availability of the fluorescence in situ hybridization test. These cases are conferring a wider phenotypical spectrum to the syndrome.Therefore, increasing awareness of the expression of this syndrome by different specialists is essential. Clinical features such as facial dysmorphism or nasal speech in atypical cases are important diagnostic clues.

Síndrome de deleción 22q11: un fenotipo en expansión / 22q11 deletion syndrome: an expanding phenotype

Introducción. El síndrome de deleción 22q11 es un complejo sindrómicoque incluye muy diversas manifestaciones, entre las que destacanmalformaciones cardíacas, inmunodeficiencia, hipocalcemia,fisura palatina y dismorfia facial. Se suele asociar también a retrasoen el desarrollo y otros síntomas neuropsiquiátricos, pero es muyinfrecuente la presentación con epilepsia como manifestación predominante.Caso clínico. Paciente mujer de 15 años con antecedentes deretraso en el desarrollo y dificultades de aprendizaje con retraso escolarque comenzó con crisis epilépticas generalizadas y parciales complejassin etiología ni factores predisponentes conocidos. La resonanciamagnética craneal y el electroencefalograma de vigilia fueronnormales. Los antecedentes neuropsiquiátricos y el fenotipo con voznasal y rasgos dismórficos faciales leves llevaron a solicitar el estudiode la deleción 22q11, que fue diagnóstico.Conclusiones. La deleción 22q11 es uno de los síndromes cromosómicosmás frecuentes. En los últimos años, gracias su mejorconocimiento y a la disponibilidad de la técnica de hibridación insitu con fluorescencia, se están diagnosticando un mayor número decasos atípicos que están ampliando el espectro fenotípico. Es importanteel conocimiento de sus manifestaciones por diferentes especialistas,ya que en casos atípicos algunas manifestaciones como lavoz nasal o los rasgos dismórficos faciales pueden dar la clave diagnóstica (AU)

Introduction. Chromosome 22q11 deletion syndrome is asyndromic complex which includes several manifestations suchas cardiac defects, immunodeficiency, cleft palate and facialdysmorphic features. It is also associated with developmentaldelay and other neuropsychiatric symptoms. Epilepsy is anuncommon manifestation.Case report. A 15 year old female patient with a history ofdevelopmental delay and learning difficulties. She began withgeneralized and partial complex epileptic seizures of unknownetiology in the absence of other known risk factors for seizures.Brain magnetic resonance imaging and electroencephalographicrecording were normal. Neuropsychiatric history, phenotype withnasal voice and dysmorphic features justified the study of the22q11 deletion that was diagnostic.Conclusions. 22q11 deletion is one of the most commonmicrodeletion chromosomal syndromes. In recent years more atypicalcases are being diagnosed due to a better knowledge of thesyndrome and the availability of the fluorescence in situ hybridizationtest. These cases are conferring a wider phenotypical spectrumto the syndrome. Therefore, increasing awareness of theexpression of this syndrome by different specialists is essential.Clinical features such as facial dysmorphism or nasal speech inatypical cases are important diagnostic clues (AU)

[Unusual thalamo-mesencephalic infarction: clinico-radiological correlations]. / Infarto tálamo-mesencefálico inusual: correlaciones clinicorradiológicas.

INTRODUCTION: Mesencephalic infarcts usually produce clinical features that allow the lesion to be located with precision, although they do not always match the patterns included in the classical syndromes reported in the literature, as occurs in the case we describe here. CASE REPORT: We report the case of a 73-year-old female with no cardiovascular risk factors, who presented a sudden clinical picture of instability, diplopia, palpebral ptosis and mild hypersomnia. On examining the patient the following manifestations were observed: compromise of the right common oculomotor nerve, up and down vertical gaze palsy, dysmetry of the right limbs and mild long tract signs in the left limbs. Magnetic resonance imaging of the brain revealed right thalamo-mesencephalic infarction in the paramedian territory, which became bilateral in the upper mesencephalon. The aetiological study showed only a carotid atheromatosis. CONCLUSIONS: Cerebellar compromise ipsilateral to a lesion in the common oculomotor nerve in mesencephalic infarcts is a very uncommon clinical variant. The pathogenetic heterogeneity of infarctions involving the mesencephalon makes it necessary to carry out an extensive aetiological study. Magnetic resonance imaging of the brain is an essential tool for understanding the clinical picture and the anatomical structures involved in cases of infrequent cerebral infarction.

Infarto tálamo-mesencefálico inusual: correlaciones clinicorradiológicas / Unusual thalamo-mesencephalic infarction: clinico-radiological correlations

Los infartos mesencefálicos suelen producir cuadros clínicos que permiten una localización precisade la lesión, aunque no siempre se ajustan a los patrones recogidos en los síndromes clásicos de la bibliografía, tal como ocurre en el caso que se presenta. Caso clínico. Mujer de 73 años sin factores de riesgo cardiovascular, que presentó un cuadrobrusco de inestabilidad, diplopía, ptosis palpebral e hipersomnia leve. En la exploración se observó la afectación del nervio oculomotor común derecho, la parálisis de la mirada vertical hacia arriba y hacia abajo, la dismetría de las extremidades derechasy la afectación piramidal leve de las extremidades izquierdas. En la resonancia magnética cerebral se objetivó un infarto tálamo-mesencefálico derecho en el territorio paramediano, que en el mesencéfalo superior se hacía bilateral. El estudio etiológico mostró únicamente una ateromatosis carotídea. Conclusiones. La afectación cerebelosa ipsilateral a la lesióndel nervio oculomotor común en los infartos mesencefálicos constituye una variante clínica muy infrecuente. La heterogeneidad patogénica de los infartos que afectan al mesencéfalo obliga a un estudio etiológico extenso. La resonancia magnética cerebral constituye una herramienta indispensable para comprender la clínica y las estructuras anatómicas implicadas en losinfartos cerebrales infrecuentes

Mesencephalic infarcts usually produce clinical features that allow the lesion to be located withprecision, although they do not always match the patterns included in the classical syndromes reported in the literature, as occurs in the case we describe here. Case report. We report the case of a 73-year-old female with no cardiovascular risk factors, who presented a sudden clinical picture of instability, diplopia, palpebral ptosis and mild hypersomnia. On examiningthe patient the following manifestations were observed: compromise of the right common oculomotor nerve, up and down vertical gaze palsy, dysmetry of the right limbs and mild long tract signs in the left limbs. Magnetic resonance imaging of the brain revealed right thalamo-mesencephalic infarction in the paramedian territory, which became bilateral in the uppermesencephalon. The aetiological study showed only a carotid atheromatosis. Conclusions. Cerebellar compromise ipsilateral to a lesion in the common oculomotor nerve in mesencephalic infarcts is a very uncommon clinical variant. The pathogeneticheterogeneity of infarctions involving the mesencephalon makes it necessary to carry out an extensive aetiological study. Magnetic resonance imaging of the brain is an essential tool for understanding the clinical picture and the anatomical structures involved in cases of infrequent cerebral infarction

Neuroimagen en el diagnostico de las encefalopatías espongiformes transmisibles humanas / Neuroimaging in the diagnosis of human transmisible spongiform encephalopathies

Introducción. El papel de la neuroimagen en el diagnóstico de las encefalopatías espongiformes transmisibles humanas (EETH) está evolucionando desde la exclusión de otros procesos en la aportación de datos diagnósticos de inestimable utilidad, como la hiperintensidad en los ganglios basales y la corteza cerebral en distintas secuencias de la resonancia magnética (RM). Métodos. Se realizaron búsqueda bibliográfica en Medline, lectura y análisis de los artículos relacionados. Resultados. Existen alteraciones como el aumento de intensidad de señal en cabeza del caudado, putamen y la corteza cerebral en la enfermedad de Creutzfeldt-Jakob esporádica, o el aumento de intensidad de señal en el pulvinar en la variante de enfermedad de Creutzfeldt-Jakob que han demostrado una adecuada fiabilidad diagnóstica. Estos hallazgos se relacionan con el subtipo molecular en los casos esporádicos, con la evolución clínica y con los hallazgos patológicos. Conclusiones. Aunque la RM sólo se incluye actualmente en los criterios diagnósticos de la variante de enfermedad de Creutzfeldt-Jakob, es una prueba diagnóstica útil para apoyar el diagnóstico de las EETH, presentando las secuencias de difusión y FLAIR una mayor sensibilidad diagnóstica (AU)

Introduction: The role of neuroimaging in the diagnosis of the Human Transmissible Spongiform Encephalopathies (HTSE) has been changing from the exclusion of other conditions to the contribution of diagnostic data having incalculable utility, such as basal ganglia and cerebral cortex in different magnetic resonance imaging (MRI) sequences. Methods: Search in Medline. Reading and analysis of related papers. Results: There are alterations such as increased of the signals in the caudate nucleus, putamen and cerebral cortex in the sporadic Creutzfeldt-Jakob disease (CJD) or increased signal intensity in the pulvinar for the variant Creutzfeldt-Jakob disease (vCJD). These signals are associated with the molecular subtype in sporadic cases, stage and duration of the disease and with pathological findings. Conclusions: Although magnetic resonance imaging (MRI) is only currently included in the vCJD diagnostic criteria, it is a useful diagnostic test in the diagnosis of other HTSE, especially diffusion-weighted and FLAIR images (AU)

Crisis mioclónicas inducidas por tramadol en paciente con epilepsia mioclónica juvenil / Myoclonic seizures induced by tramadol in patients with juvenile myoclonic epilepsy

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Fenómeno de Lhermitte anterior: una nueva localización para un fenómeno conocido / Anterior Lhermitte's phenomenon. A novel location for a well-known phenomenon

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[Analysis of gait and movement of upper limbs in muscular dystrophies]. / Análisis de la marcha y del movimiento de las extremidades superiores en distrofias musculares.

INTRODUCTION: The objective is to analyze gait and upper extremity movement in a sample of healthy individuals and patients with different muscular dystrophies and to determine the relationship of the obtained variables with the pattern of muscular involvement. SUBJECTS AND METHODS: Gait and upper limb movement was analyzed with a three-dimensional photogrammetry system. Convenience sample of 28 healthy volunteers, 40 patients with myotonic dystrophy (MD), 9 patients with facioscapulohumeral dystrophy (FSHD) and 14 patients with limb-girdle muscular dystrophy type 2A (LGMD2A). Spatio-temporal and kinematic variables were analyzed. RESULTS: Patients had lower velocity, cadence and shorter stride duration than healthy subjects. Gait and upper extremity kinematic variables suggested proximal muscular involvement in LGMD2A patients and distal muscular abnormalities in MD patients. The most characteristic finding in FSHD patients was related with dorsiflexor muscles' weakness. Some of the variables were also correlated to the patients' functional stage. CONCLUSIONS: This analysis allows the distinction of kinematic and spatio-temporal patterns of gait and upper extremity movement that correlate with muscular dystrophy's phenotype. The use of this analysis in the clinical setting to assess disease progression or the potential effects of treatments requires further studies.

Análisis de la marcha y del movimiento de las extremidades superiores en distrofias musculares / Analysis of gait and movement of upper limbs in muscular dystrophies

Introducción. El objetivo del estudio es analizar y comparar la marcha y el movimiento de las extremidades superiores en una muestra de individuos sanos y con diferentes tipos de distrofias musculares y determinar la relación entre las variables obtenidas y el patrón de afectación muscular. Pacientes y métodos. Se analizó la marcha y el movimiento de las extremidades superiores a través de un sistema de fotogrametria tridimensional a una muestra de 28 voluntarios sanos, 40 pacientes con distrofia miotónica (DM). 9 pacientes con distrofia facioescapulohumeral (DMFEH) y 14 pacientes con distrofia muscular de cinturas tipo 2A (LGM02A). Se analizaron variables espacio-temporales y cinemáticas. Resultados. Los pacientes presentaron una menor velocidad, cadencia y menor duración de la zancada que los sujetos sanos. Las variables cinemáticas se correlacionaron con una afectación muscular proximal en los pacientes con LGM02A y con anomalías en la musculatura distal en pacientes con OM. Los hallazgos más característicos en los pacientes con OMFEH se relacionaron con una debilidad de la musculatura dorsiflexora del pie. Se encontró también correlación entre la alteración de algunas variables y el estadio funcional de los pacientes. Conclusiones. Este análisis permite establecer una correlación entre las alteraciones de las variables espaciotemporales y cinemáticas de la marcha y el movimiento de los miembros superiores y el fenotipo de cada una de las distrofias musculares examinadas. La utilización de este análisis en la práctica clínica para evaluar la progresión de la enfermedad o los efectos potenciales de diferentes intervenciones requiere estudios adicionales

Introduction. The objective is to analyze gait and upper extremity movement in a sample of healthy individuals and patients with different muscular dystrophies and to determine the relationship of the obtained variables with the pattern of muscular involvement. Subjects and methods. Gait and upper limb movement was analyzed with a three-dimensional phtogrammetry system. Convenience sample of 28 healthy volunteers, 40 patients with myotonic dystrophy (MD), 9 patients with facioscapulohumeral dystrophy (FSHD) and 14 patients with limb-girdle muscular dystrophy type 2A (LGMD2A). Spatio-temporal and kinematic variables were analyzed. Results. Patients had lower velocity, cadence and shorter stride duration than healthy subjects. Gait and upper extremity kinematic variables suggested proximal muscular involvement in LGMD2A patients and distal muscular abnormalities in MD patients. The most characteristic finding in FSHD patients was related with dorsiflexor muscles' weakness. Some of the variables were also correlated to the patients' functional stage. Conclusions. This analysis allows the distinction of kinematic and spatio-temporal patterns of gait and upper extremity movement that correlate with muscular dystrophy's phenotype. The use of this analysis in the clinical setting to assess disease progression or the potential effects of treatments requires further studies

[Creutzfeldt-Jakob disease: alterations in an isolated cortical signal in diffusion magnetic resonance imaging]. / Enfermedad de Creutzfeldt-Jakob: alteración de la señal cortical aislada en resonancia magnética de difusión.

INTRODUCTION: Neuroimaging is playing an increasingly important role in the diagnosis of Creutzfeldt-Jakob disease (CJD), as shown by the fact that it is giving rise to the exclusion of other processes and providing invaluable diagnostic data -above all alterations in the signal in basal ganglia and in the cerebral cortex. CASE REPORTS: Case 1: A 66-year-old male who had symptoms of rapidly progressing cognitive impairment that began in the occipital region, with ataxia and myoclonias. The electroencephalogram (EEG) recordings revealed the presence of periodic biphasic sharp waves, and determination of protein 14-3-3 in cerebrospinal fluid (CSF) was negative. In the second cranial magnetic resonance (MR) scan that was performed, a signal increase at the level of the cortex, and predominantly in the right hemisphere, was observed in the diffusion sequences. Case 2: An 80-year-old male with a subacute clinical picture of cognitive and motor impairment that progressed in a matter of weeks to akinetic mutism accompanied by myoclonias. EEG recordings showed diffuse slowing, and the determination of protein 14-3-3 in CSF was positive. In both cranial MR scans carried out, we observed an isolated increase in the cortical signal in FLAIR sequences, and in the second MR scan there was also an increase in the cortical signal in the diffusion sequences. Neuropathology findings confirmed the diagnosis of sporadic CJD in both patients. CONCLUSIONS: Cranial MR imaging in patients with CJD can be used to complement the other diagnostic tests and MR with diffusion sequences appears to offer greater diagnostic sensitivity, above all for the detection of a signal increase on a cortical level.

Enfermedad de Creutzfeldt-Jakob: alteración de la señal cortical aislada en resonancia magnética de difusión / Creutzfeldt-Jakob disease: alterations in an isolated cortical signal in diffusion magnetic resonance imaging

Introducción. El papel de la neuroimagen en el diagnóstico de la enfermedad de Creutzfeldt-Jakob (ECJ) está evolucionando desde la exclusión de otros procesos a la contribución con datos diagnósticos de inestimable utilidad, fundamentalmente alteraciones de la señal en los ganglios basales y en la corteza cerebral. Casos clínicos. Caso 1: Varón de 66 años que presentó un cuadro de deterioro cognitivo rápidamente progresivo de inicio occipital, con ataxia y mioclonías. El electroencefalograma(EEG) mostró la presencia de ondas agudas bifásicas periódicas, y la determinación de la proteína 14-3-3 en el LCR fue negativa. En la segunda resonancia magnética (RM) craneal realizada, se observó un aumento de la señal a nivel cortical de predominio hemisférico derecho en las secuencias de difusión. Caso 2: Varón de 80 años que presentó un cuadro subagudo de deterioro cognitivo y motor que evolucionó en semanas hasta la situación de mutismo a cinético acompañado de mioclonías. El EEG mostró enlentecimiento difuso, y la determinación de la proteína 14-3-3en el LCR fue positiva. En las dos RM craneales realizadas se observó un aumento aislado de la señal cortical en secuencias FLAIR, y en la segunda RM, además, un aumento de la señal cortical en las secuencias de difusión. Los hallazgos neuropatológicos confirmaron el diagnóstico de ECJ esporádica en ambos pacientes. Conclusiones. La RM craneal en pacientes con ECJ supone un apoyo al resto de pruebas diagnósticas y la RM consecuencias de difusión parece aportar una mayor sensibilidad diagnóstica, sobre todo para la detección del aumento de señal a nivel cortical

Introduction. Neuroimaging is playing an increasingly important role in the diagnosis of Creutzfeldt-Jakob disease(CJD), as shown by the fact that it is giving rise to the exclusion of other processes and providing invaluable diagnostic data–above all alterations in the signal in basal ganglia and in the cerebral cortex. Case reports. Case 1: A 66-year-old male who had symptoms of rapidly progressing cognitive impairment that began in the occipital region, with ataxia and myoclonias. The electroencephalogram (EEG) recordings revealed the presence of periodic biphasic sharp waves, and determination of protein14-3-3 in cerebrospinal fluid (CSF) was negative. In the second cranial magnetic resonance (MR) scan that was performed, a signal increase at the level of the cortex, and predominantly in the right hemisphere, was observed in the diffusion sequences. Case 2: An 80-year-old male with a subacute clinical picture of cognitive and motor impairment that progressed in a matter of weeks to a kinetic mutism accompanied by myoclonias. EEG recordings showed diffuse slowing, and the determination of protein14-3-3 in CSF was positive. In both cranial MR scans carried out, we observed an isolated increase in the cortical signal in FLAIR sequences, and in the second MR scan there was also an increase in the cortical signal in the diffusion sequences. Neuropathology findings confirmed the diagnosis of sporadic CJD in both patients. Conclusions. Cranial MR imaging inpatients with CJD can be used to complement the other diagnostic tests and MR with diffusion sequences appears to offer greater diagnostic sensitivity, above all for the detection of a signal increase on a cortical level

Síndrome de Guillain-Barré postinmunización con vacunas antihepatitis A y antifoidea / Guillain-Barré syndrome agter immunisation with hepatitis A and typhoid vaccines

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