[Usefulness of serological studies for the early diagnosis of Lyme disease in Primary Health Care Centres]. / Utilidad de los estudios serológicos en los centros de Atención Primaria para el diagnóstico precoz de la enfermedad de Lyme.

OBJECTIVE: The main aim of this study was to determine the usefulness of an early diagnosis of Lyme disease (LD) in Primary Health Care Centres (PHCC) using the ELISA test as serological screening technique. METHODS: A retrospective study (2006-2013) was performed in order to determine the anti-Borrelia seropositivity in 2,842 people at risk of having LD. The possible relationship between the environment and the area of residence with anti-Borrelia seropositivity was also studied according to the origin of the specimens (PHCC/Hospital). RESULTS: Overall, 15.2% of samples were positive to Borrelia spp. Seropositivity was significantly higher in samples sent by PHCC doctors than those sent by Hospital doctors. Seropositivity was significantly higher in rural than in urban populations and in those who live in mountainous or flat areas. The percentage of seropositivity has increased over the years. CONCLUSIONS: The role of the PHCC doctor is essential for achieving an early diagnosis of Lyme disease, as a higher percentage of seropositives was detected in samples submitted from PHCC. Furthermore, most early localised LD patients were diagnosed in PHCC, avoiding the appearance of sequelae. Therefore, detection of Borrelia specific antibodies using an ELISA assay is a useful screening test for patients at risk of LD.

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

OBJECTIVE: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. METHODS: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. RESULTS: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemiplegia during nocturnal or daytime sleep heralded by inconsolable crying. Possible triggers included stress and sleep deprivation. Eleven of fourteen patients had a family history of migraine or 'intermittent headache' and two sets of siblings are reported. In one case, exome sequencing revealed a heterozygous 16p11.2 deletion involving 33 genes, including the PRRT2 gene. EEG showed ictal and/or interictal contralateral slowing in four patients. Treatment efficacy was generally disappointing. A complete disappearance of attacks appeared in nearly all cases at most recent follow-up. In a remarkably high number of cases (10/14, 71%), hyperactive behaviour was reported during follow-up. CONCLUSION: We underscore the phenotypic homogeneity including the self-limiting course of BNAHC episodes and suggest the condition be renamed 'benign childhood hemiplegia during sleep' (BCHS). We propose a role for the PRRT2 gene and the resulting neuronal hyperexcitability as one of its possible underpinning mechanisms and discuss the clinical similarities of BCHS with the recognized PRRT2-related disorders.

Molecular identification of Borrelia spirochetes in questing Ixodes ricinus from northwestern Spain.

BACKGROUND: Ixodes ricinus, the predominant tick species in Europe, can transmit the causative agents of important human diseases such as Lyme borreliosis (LB), caused by Borrelia spirochetes. In northern Spain, LB is considered endemic; recently, a significant increase of the annual incidence of LB was reported in the northwestern (NW) region. METHODS: In order to provide information on the prevalence of Borrelia spp., pooled and individually free-living I. ricinus from NW Spain were molecularly analyzed. Positive samples were characterized at the fla and Glpq genes and the rrfA-rrlB intergenic spacer region to identify Borrelia species/genospecies. RESULTS: Borrelia burgdorferi (sensu lato) (s.l.) individual prevalence and MIR were significantly higher in adult females (32.3 and 16%) than in nymphs (18.8 and 6.2%) and adult males (15.6 and 8.4%). Five Borrelia genospecies belonging to the B. burgdorferi (s.l.) group were identified: B. garinii was predominant, followed by B. valaisiana, B. lusitaniae, B. afzelii and B. burgdorferi (sensu stricto) (s.s.). One species belonging to the tick-borne relapsing fever group (B. miyamotoi) was also found, showing low individual prevalence (1%), positive pool (0.7%) and MIR (0.1%) values. To our knowledge, this is the first citation of B. miyamotoi in free-living ticks from Spain. CONCLUSIONS: The significant prevalences of B. burgdorferi (s.l.) genospecies detected in questing ticks from NW Spain are similar to those detected in northern and central European countries and higher to those previously found in Spain. These results together with the high incidence of LB in humans and the high seroprevalence of B. burgdorferi (s.l.) in roe deer shown in other studies reveal that the northwest area is one of the most risky regions for acquiring LB in Spain.

Articular manifestations in patients with Lyme disease. / Manifestaciones articulares en enfermos de Lyme.

OBJECTIVES: To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. PATIENTS: A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. RESULTS: Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. CONCLUSIONS: Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels.

[Epidemiology of Lyme disease in a healthcare area in north-west Spain]. / Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España.

OBJECTIVE: To evaluate the influence of some risk factors on the incidence rate of Lyme disease and the main clinical manifestations. METHODS: A retrospective study of Lyme disease (2006-2013) was performed in north-west Spain; we included only patients who fulfilled the epidemiological surveillance criteria defined by the Centers for Disease Control and Prevention. RESULTS: The incidence rate varied between 2.64 and 11.61/100,000 inhabitants/year. Significant differences were found in relation to habitat, age and area of residence. Patients showed neurological (67.59%), dermatological (47.22%), rheumatological (15.74%) and cardiac (13.88%) manifestations, alone or combined. CONCLUSIONS: Due to the increase of the disease in north-west Spain and the differences observed between the different areas, epidemiological studies are needed that increase the index of diagnostic suspicion and lead to the implementation of effective prevention measures.

Utilidad de los estudios serológicos en los centros de Atención Primaria para el diagnóstico precoz de la enfermedad de Lyme / Usefulness of serological studies for the early diagnosis of Lyme disease in Primary Health Care Centres

Objetivo: Determinar la utilidad del diagnóstico precoz de la enfermedad de Lyme (EL) en los Centros de Atención Primaria (CAP) empleando el ELISA como técnica de cribado serológico. Métodos: Se realiza un estudio retrospectivo (2006-2013) consistente en la determinación mediante ELISA de la seropositividad a Borrelia de 2.842 personas consideradas en riesgo de padecer EL. Se estudia la relación entre el hábitat y la zona de residencia de las personas con seropositividad a Borrelia, según la procedencia de las muestras (CAP/Hospital). Resultados: El 15,2% de los sueros resultaron positivos frente a Borrelia spp. La seropositividad fue significativamente superior en las muestras remitidas desde los CAP que desde el Hospital y en los habitantes del rural y la montaña frente al área urbana y la meseta. El porcentaje de seropositividad se incrementó con el transcurso de los años. Los médicos de Atención Primaria detectaron mayor porcentaje de enfermos de Lyme en Fase I y tras la instauración del tratamiento no se observaron secuelas. Conclusiones: El papel del médico de atención primaria es primordial en el diagnóstico precoz de la EL, constatándose un mayor porcentaje de seropositivos entre las muestras remitidas desde los CAP con predominio del diagnóstico en Fase I de enfermedad y la resolución sin secuelas. La detección de anticuerpos específicos frente a Borrelia, mediante ELISA, es una prueba útil para el cribado de pacientes en riesgo de EL (AU)

Objective: The main aim of this study was to determine the usefulness of an early diagnosis of Lyme disease (LD) in Primary Health Care Centres (PHCC) using the ELISA test as serological screening technique. Methods: A retrospective study (2006-2013) was performed in order to determine the anti-Borrelia seropositivity in 2,842 people at risk of having LD. The possible relationship between the environment and the area of residence with anti-Borrelia seropositivity was also studied according to the origin of the specimens (PHCC/Hospital). Results: Overall, 15.2% of samples were positive to Borrelia spp. Seropositivity was significantly higher in samples sent by PHCC doctors than those sent by Hospital doctors. Seropositivity was significantly higher in rural than in urban populations and in those who live in mountainous or flat areas. The percentage of seropositivity has increased over the years. Conclusions: The role of the PHCC doctor is essential for achieving an early diagnosis of Lyme disease, as a higher percentage of seropositives was detected in samples submitted from PHCC. Furthermore, most early localised LD patients were diagnosed in PHCC, avoiding the appearance of sequelae. Therefore, detection of Borrelia specific antibodies using an ELISA assay is a useful screening test for patients at risk of LD (AU)

Manifestaciones articulares en enfermos de Lyme / Articular manifestations in patients with Lyme disease

Objetivos. Determinar el porcentaje de pacientes con clínica articular entre los enfermos de Lyme en el NO de España y conocer su evolución y respuesta al tratamiento. Pacientes. Se realizó un estudio retrospectivo (2006-2013) revisando las historias clínicas de los enfermos de Lyme con clínica articular. Se analizaron las manifestaciones clínicas, los datos de laboratorio, el tratamiento y la evolución de los enfermos. Resultados. Diecisiete de 108 pacientes confirmados como enfermos de Lyme (15,7%) presentaban clínica articular. De estos 17, el 64,7% presentó artritis, el 29,4% artralgias y el 5,9% bursitis. La rodilla fue la articulación más afectada. La clínica articular se asoció frecuentemente a manifestaciones neurológicas, dermatológicas o cardíacas. La mayoría de los pacientes estaban en fase iii. El 11,8% evolucionó a artritis crónica recidivante, aunque recibieron tratamiento adecuado. Conclusiones. En zonas con elevado riesgo de picadura por garrapatas, la presencia de clínica articular debe hacernos sospechar la posibilidad de una enfermedad de Lyme con objeto de establecer de forma precoz un tratamiento adecuado que evite secuelas (AU)

Objectives. To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. Patients. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Results. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Conclusions. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels (AU)

Epidemiología de la enfermedad de Lyme en un área sanitaria del noroeste de España / Epidemiology of Lyme disease in a healthcare area in north-west Spain

Objetivo: Valorar la influencia de algunos factores de riesgo sobre la tasa de incidencia de la enfermedad Lyme y describir las principales manifestaciones clínicas de esta. Métodos: Se realizó un estudio retrospectivo sobre esta enfermedad (2006-2013), en una zona del noroeste de España, incluyendo solo los pacientes que cumplían los criterios de vigilancia epidemiológica de los Centers for Disease Control and Prevention de los Estados Unidos. Resultados: La tasa de incidencia varió entre 2,64 y 11,61 por 100.000 habitantes y año. Hubo diferencias significativas respecto al hábitat, la edad y la zona de residencia. Los pacientes presentaron manifestaciones neurológicas (67,59%), dermatológicas (47,22%), reumatológicas (15,74%) o cardiacas (13,88%), solas o combinadas. Conclusiones: El incremento de esta enfermedad en el noroeste de España y las diferencias observadas entre las distintas zonas de una misma área sanitaria hacen necesario plantear estudios epidemiológicos que permitan aumentar el índice de sospecha diagnóstica e implementar medidas de prevención eficaces (AU)

Objective: To evaluate the influence of some risk factors on the incidence rate of Lyme disease and the main clinical manifestations. Methods: A retrospective study of Lyme disease (2006-2013) was performed in north-west Spain; we included only patients who fulfilled the epidemiological surveillance criteria defined by the Centers for Disease Control and Prevention. Results: The incidence rate varied between 2.64 and 11.61/100,000 inhabitants/year. Significant differences were found in relation to habitat, age and area of residence. Patients showed neurological (67.59%), dermatological (47.22%), rheumatological (15.74%) and cardiac (13.88%) manifestations, alone or combined. Conclusions: Due to the increase of the disease in north-west Spain and the differences observed between the different areas, epidemiological studies are needed that increase the index of diagnostic suspicion and lead to the implementation of effective prevention measures (AU)