Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease.

Presenilin 1 (PSEN1) is a γ-secretase component, which is in charge of the amyloid precursor protein (APP) cleavage. APP is believed to play a central role in the pathogenesis of Alzheimer's disease (AD). PSEN1 mutations are the most important causes of familial AD, being related to the earlier onset and rapid progression of the disease. Presenilins and APP mutations represent an extraordinary opportunity to study the pathophysiology of AD. We describe the clinical and genetic study of a 37-year-old male patient with a novel mutation in PSEN1 (p.Thr-Pro116-117Ser-Thr). We have studied the pedigree of his family with a further 9 members affected, all of them with onset in their 30s. We have also described the clinical data and results of brain biopsies in 2 of them. DNA sequencing of a tissue sample from an uncle of the patient, who died of AD in the 80s, showed the same mutation as in the patient. These data and predictive analysis indicate the pathogenicity of the mutation.

Tianeptina: ¿por qué en España no ha sido catalogada como estupefaciente? / Tineptine: why has not been classified as a narcotic in Spain?

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[Prevalence of uterine anatomical anomalies in mexican women with recurrent pregnancy loss (RPL)]. / Prevalencia de las alteraciones anatómicas uterinas en mujeres mexicanas con pérdida gestacional recurrente (PGR).

INTRODUCTION: In Mexico, the information available about the prevalence of uterine anatomical anomalies as the direct and indirect cause of recurrent pregnancy loss (RPL) is limited. OBJECTIVE: To know the prevalence and types of uterine anatomical anomalies in Mexican women with RPL. METHODS: In a cross-sectional study, we included women attending a clinic for RPL from 2008 to 2013, with a history of three or more consecutive gestational losses, with the same couple and complete study protocol by factors. Altered anatomical factor was defined by any of the following diagnoses: Müllerian malformations, submucosal myomas, uterine synechiae, endometrial polyp, and cervical weakness, confirmed by laparoscopy and hysteroscopy. RESULTS: We analyzed 188 women. The prevalence of anatomical anomalies was 41.5% (n = 78); the type of anatomical anomaly was: cervical weakness 15.9% (n = 30), septate uterus 11.7% (n = 22), and uterine synechiae 9.6% (n = 18), endometrial polyps 1.6% (n = 3), bicornuate uterus 1.1% (n = 2), arcuate uterus 0.5% (n = 1), didelphic uterus 0.5% (n=1), and submucosal myoma 0.5% (n=1). We identified the anatomic factor as the unique cause of RPL in 35.6% (n = 67) of cases. CONCLUSIONS: The prevalence of altered anatomical factor in Mexican women with RPL is 41.5%; more frequent anomalies were: cervical weakness, septate uterus, and uterine synechiae.

[Personality traits in patients with chronic migraine: a categorial and dimensional study in a series of 30 patients]. / Rasgos de personalidad en migraña crónica: estudio categorial y dimensional en una serie de 30 pacientes.

INTRODUCTION: The pathogenic role of personality in migraine has not yet been defined. It can be studied by means of dimensional or categorial measurement instruments, although there is no agreement as to the most suitable approach in this respect either. AIM: To analyse the personality of patients with chronic migraine from the dimensional and categorial point of view. PATIENTS AND METHODS: We used the Salamanca questionnaire as our categorial test and, as the dimensional test, we employed the Minnesota Multiphasic Personality Inventory-2 (MMPI-2). Mood disorders were evaluated with the hospital anxiety and depression scale and the impact of migraine was determined by means of the Headache Impact Test-6 (HIT-6). RESULTS: We included 30 patients (26 females), with a mean age of 40.7 ± 9.6 years. One case (3.3%) presented criteria for depression and four (13.3%) for anxiety. In the Salamanca test, the most common personality traits were those included within cluster C: anankastic (n = 28; 93.3%), anxious (n = 18; 60%) and dependent (n = 7; 23.3%). On the MMPI-2, 16 patients (53.3%) fulfilled criteria for hypochondria; 7 (23.3%) for depression; and 10 (33.3%) for hysteria, which are traits included within the neurotic triad. A pattern called 'conversion V' was observed. No correlation was found between the personality traits and the length of time with chronic migraine, the intensity measured by HIT-6 or the excessive use of symptomatic medication. CONCLUSIONS: In the analysis of the personality in chronic migraine, what stood out from the dimensional point of view was neuroticism and as regards the categorial perspective, the obsessive-compulsive or anankastic trait was the most salient. More extensive series need to be conducted, together with comparisons with episodic migraine and population control.

TITLE: Rasgos de personalidad en migraña cronica: estudio categorial y dimensional en una serie de 30 pacientes.Introduccion. El papel patogenico de la personalidad en la migraña no esta definido. Para su estudio se pueden utilizar instrumentos de medida dimensional o categorial, sin que haya tampoco acuerdo acerca del abordaje mas adecuado. Objetivo. Analizar la personalidad de pacientes con migraña cronica desde el punto de vista dimensional y categorial. Pacientes y metodos. Como test categorial utilizamos el cuestionario Salamanca, y, como dimensional, el Minnesota Multiphasic Personality Inventory-2 (MMPI-2). Evaluamos trastornos del animo con la escala de ansiedad y depresion hospitalaria y el impacto de la migraña mediante el Headache Impact Test-6 (HIT-6). Resultados. Incluimos 30 pacientes (26 mujeres), con una edad media de 40,7 ± 9,6 años. Un caso (3,3%) presentaba criterios de depresion, y 4 (13,3%), de ansiedad. En el test Salamanca, los rasgos de personalidad mas frecuentes fueron los integrados en el cluster C: anancastico (n = 28; 93,3%), ansioso (n = 18; 60%) y dependiente (n = 7; 23,3%). En el MMPI-2, 16 pacientes (53,3%) cumplian criterios de hipocondria; 7 (23,3%), de depresion, y 10 (33,3%), de histeria, rasgos integrados en la triada neurotica. Se objetivo una configuracion denominada 'conversiva V'. No hallamos correlacion entre los rasgos de personalidad y el tiempo de migraña cronica, la intensidad medida por el HIT-6 o el uso excesivo de medicacion sintomatica. Conclusiones. En el analisis de la personalidad en la migraña cronica destaca, desde el punto de vista dimensional, el neuroticismo, y respecto al categorial, el rasgo obsesivo-compulsivo o anancastico. Es necesario el estudio de series mas extensas y la comparacion con pacientes con migraña episodica y poblacion control.

Rasgos de personalidad en migraña crónica: estudio categorial y dimensional en una serie de 30 pacientes / Personality traits in patients with chronic migraine: a categorial and dimensional study in a series of 30 patients

Introducción. El papel patogénico de la personalidad en la migraña no está definido. Para su estudio se pueden utilizar instrumentos de medida dimensional o categorial, sin que haya tampoco acuerdo acerca del abordaje más adecuado. Objetivo. Analizar la personalidad de pacientes con migraña crónica desde el punto de vista dimensional y categorial. Pacientes y métodos. Como test categorial utilizamos el cuestionario Salamanca, y, como dimensional, el Minnesota Multiphasic Personality Inventory-2 (MMPI-2). Evaluamos trastornos del ánimo con la escala de ansiedad y depresión hospitalaria y el impacto de la migraña mediante el Headache Impact Test-6 (HIT-6). Resultados. Incluimos 30 pacientes (26 mujeres), con una edad media de 40,7 ± 9,6 años. Un caso (3,3%) presentaba criterios de depresión, y 4 (13,3%), de ansiedad. En el test Salamanca, los rasgos de personalidad más frecuentes fueron los integrados en el cluster C: anancástico (n = 28; 93,3%), ansioso (n = 18; 60%) y dependiente (n = 7; 23,3%). En el MMPI-2, 16 pacientes (53,3%) cumplían criterios de hipocondría; 7 (23,3%), de depresión, y 10 (33,3%), de histeria, rasgos integrados en la tríada neurótica. Se objetivó una configuración denominada ‘conversiva V’. No hallamos correlación entre los rasgos de personalidad y el tiempo de migraña crónica, la intensidad medida por el HIT-6 o el uso excesivo de medicación sintomática. Conclusiones. En el análisis de la personalidad en la migraña crónica destaca, desde el punto de vista dimensional, el neuroticismo, y respecto al categorial, el rasgo obsesivo-compulsivo o anancástico. Es necesario el estudio de series más extensas y la comparación con pacientes con migraña episódica y población control (AU)

Introduction. The pathogenic role of personality in migraine has not yet been defined. It can be studied by means of dimensional or categorial measurement instruments, although there is no agreement as to the most suitable approach in this respect either. Aim. To analyse the personality of patients with chronic migraine from the dimensional and categorial point of view. Patients and methods. We used the Salamanca questionnaire as our categorial test and, as the dimensional test, we employed the Minnesota Multiphasic Personality Inventory-2 (MMPI-2). Mood disorders were evaluated with the hospital anxiety and depression scale and the impact of migraine was determined by means of the Headache Impact Test-6 (HIT-6). Results. We included 30 patients (26 females), with a mean age of 40.7 ± 9.6 years. One case (3.3%) presented criteria for depression and four (13.3%) for anxiety. In the Salamanca test, the most common personality traits were those included within cluster C: anankastic (n = 28; 93.3%), anxious (n = 18; 60%) and dependent (n = 7; 23.3%). On the MMPI-2, 16 patients (53.3%) fulfilled criteria for hypochondria; 7 (23.3%) for depression; and 10 (33.3%) for hysteria, which are traits included within the neurotic triad. A pattern called ‘conversion V’ was observed. No correlation was found between the personality traits and the length of time with chronic migraine, the intensity measured by HIT-6 or the excessive use of symptomatic medication. Conclusions. In the analysis of the personality in chronic migraine, what stood out from the dimensional point of view was neuroticism and as regards the categorial perspective, the obsessive-compulsive or anankastic trait was the most salient. More extensive series need to be conducted, together with comparisons with episodic migraine and population control (AU)

Disfunción sexual en pacientes migrañosos que reciben tratamiento preventivo: identificación mediante dos tests de cribado / Sexual dysfunction in migraine patients who receive preventive treatment: identification by means of two screening tests

Introducción. Las disfunciones sexuales constituyen uno de los problemas más importantes que afectan a la salud sexual y se asocian a bajos niveles de calidad de vida. Objetivo. Evaluar la función sexual en pacientes migrañosos y la disfunción sexual atribuible al tratamiento preventivo. Pacientes y métodos. Pacientes atendidos en las consultas de cefaleas de dos hospitales generales que acudían a la primera visita tras prescripción de un preventivo. Respondieron al cuestionario de funcionamiento sexual del Hospital General de Massachusetts (MGH-SFQ) y al cuestionario de disfunción sexual secundaria a psicofármacos (SALSEX). Resultados. Muestra de 79 pacientes (17 varones, 62 mujeres), de 37,6 ± 9,1 años (rango: 19-57 años), 31 (39,2%) de ellos con migraña crónica. Como tratamiento preventivo, 23 (29,1%) recibían betabloqueantes; 42 (53,2%), neuromoduladores; 8 (10,1%), antagonistas del calcio, y 6 (7,6%), antidepresivos. El MGH-SFQ detectó en 24 pacientes (30,4%) disminución al menos moderada de satisfacción sexual global. El SALSEX mostró cambio de la función sexual atribuible al tratamiento preventivo en 36 casos (45,5%), sólo excepcionalmente manifestada de forma espontánea. En pacientes con disfunción al menos moderada en el MGH-SFQ, eran significativamente mayores la edad media en el momento de la inclusión, el número de días de dolor al mes y el uso excesivo de medicación sintomática (53,3% frente a 46,7%; p = 0,03). Conclusión. La disfunción sexual evaluada con sencillos test de cribado detecta con frecuencia disfunción sexual en pacientes migrañosos en tratamiento preventivo y cambios en su vida sexual atribuibles a estos fármacos (AU)

Introduction. Sexual dysfunctions are one of the most important problems affecting sexual health and are associated withlow levels of quality of life. Aim. To assess the sexual functioning in migraine patients and the sexual dysfunction that can be attributed to its preventive treatment. Patients and methods. The patients attended in the headache units of two general hospitals who visited for the first time after being prescribed preventive treatment. They answered the Massachusetts General Hospital-Sexual Functioning Questionnaire (MGH-SFQ) and the Psychotropic-Related Sexual Dysfunction Questionnaire (SALSEX). Results. The sample used in the study consisted of 79 patients (17 males, 62 females) aged 37.6 ± 9.1 years (range: 19-57 years), 31 (39.2%) of them with chronic migraine. As preventive treatment, 23 (29.1%) received beta blockers; 42 (53.2%) neuromodulators; 8 (10.1%), calcium antagonists; and 6 (7.6%), antidepressants. The MGH-SFQ detected diminished overall sexual satisfaction that was at least moderate in 24 patients (30.4%). SALSEX showed changes in sexual functioning that was attributable to the preventive treatment in 36 cases (45.5%), which only exceptionally appeared spontaneously. In patients with at least moderate dysfunction on the MGH-SFQ, the mean ages at the time of testing, the number of days with pain per month and the excessive use of medication for their symptoms were all higher(53.3% versus 46.7%; p = 0.03). Conclusions. Simple sexual dysfunction screening tests often detect sexual dysfunctions in patients with migraine on preventive treatment and changes in their sex life that can be attributed to these drugs (AU)

[Sexual dysfunction in migraine patients who receive preventive treatment: identification by means of two screening tests]. / Disfuncion sexual en pacientes migrañosos que reciben tratamiento preventivo: identificacion mediante dos tests de cribado.

INTRODUCTION: Sexual dysfunctions are one of the most important problems affecting sexual health and are associated with low levels of quality of life. AIM: To assess the sexual functioning in migraine patients and the sexual dysfunction that can be attributed to its preventive treatment. PATIENTS AND METHODS: The patients attended in the headache units of two general hospitals who visited for the first time after being prescribed preventive treatment. They answered the Massachusetts General Hospital-Sexual Functioning Questionnaire (MGH-SFQ) and the Psychotropic-Related Sexual Dysfunction Questionnaire (SALSEX). RESULTS: The sample used in the study consisted of 79 patients (17 males, 62 females) aged 37.6 ± 9.1 years (range: 19-57 years), 31 (39.2%) of them with chronic migraine. As preventive treatment, 23 (29.1%) received beta blockers; 42 (53.2%) neuromodulators; 8 (10.1%), calcium antagonists; and 6 (7.6%), antidepressants. The MGH-SFQ detected diminished overall sexual satisfaction that was at least moderate in 24 patients (30.4%). SALSEX showed changes in sexual functioning that was attributable to the preventive treatment in 36 cases (45.5%), which only exceptionally appeared spontaneously. In patients with at least moderate dysfunction on the MGH-SFQ, the mean ages at the time of testing, the number of days with pain per month and the excessive use of medication for their symptoms were all higher (53.3% versus 46.7%; p = 0.03). CONCLUSIONS: Simple sexual dysfunction screening tests often detect sexual dysfunctions in patients with migraine on preventive treatment and changes in their sex life that can be attributed to these drugs.

TITLE: Disfuncion sexual en pacientes migrañosos que reciben tratamiento preventivo: identificacion mediante dos tests de cribado.Introduccion. Las disfunciones sexuales constituyen uno de los problemas mas importantes que afectan a la salud sexual y se asocian a bajos niveles de calidad de vida. Objetivo. Evaluar la funcion sexual en pacientes migrañosos y la disfuncion sexual atribuible al tratamiento preventivo. Pacientes y metodos. Pacientes atendidos en las consultas de cefaleas de dos hospitales generales que acudian a la primera visita tras prescripcion de un preventivo. Respondieron al cuestionario de funcionamiento sexual del Hospital General de Massachusetts (MGH-SFQ) y al cuestionario de disfuncion sexual secundaria a psicofarmacos (SALSEX). Resultados. Muestra de 79 pacientes (17 varones, 62 mujeres), de 37,6 ± 9,1 años (rango: 19-57 años), 31 (39,2%) de ellos con migraña cronica. Como tratamiento preventivo, 23 (29,1%) recibian betabloqueantes; 42 (53,2%), neuromoduladores; 8 (10,1%), antagonistas del calcio, y 6 (7,6%), antidepresivos. El MGH-SFQ detecto en 24 pacientes (30,4%) disminucion al menos moderada de satisfaccion sexual global. El SALSEX mostro cambio de la funcion sexual atribuible al tratamiento preventivo en 36 casos (45,5%), solo excepcionalmente manifestada de forma espontanea. En pacientes con disfuncion al menos moderada en el MGH-SFQ, eran significativamente mayores la edad media en el momento de la inclusion, el numero de dias de dolor al mes y el uso excesivo de medicacion sintomatica (53,3% frente a 46,7%; p = 0,03). Conclusion. La disfuncion sexual evaluada con sencillos test de cribado detecta con frecuencia disfuncion sexual en pacientes migrañosos en tratamiento preventivo y cambios en su vida sexual atribuibles a estos farmacos.

Rasgos de personalidad en pacientes migrañosos: estudio multicéntrico utilizando el cuestionario de cribado Salamanca / Personality traits in patients with migraine: a multi-centre study using the Salamanca screening questionnaire

Introducción. La comorbilidad psiquiátrica en migraña es frecuente, y se ha estudiado más la relacionada con trastornos afectivos y ansiedad que los rasgos de personalidad. Objetivo. Estudiar la presencia de rasgos de personalidad en personas con migraña y su relación con la presencia de migraña crónica o abuso de medicación. Pacientes y métodos. Se evalúan pacientes atendidos consecutivamente en cinco centros. Se exploran, mediante las 22 preguntas del cuestionario de cribado Salamanca, 11 rasgos de personalidad agrupados en tres grupos. Se obtuvieron datos referentes a las características demográficas e impacto de la migraña. Resultados. Se incluyeron en el estudio 164 pacientes (134 mujeres, 30 varones), con una edad media de 36,6 ± 12,5 años (rango: 18-78 años). En la mayoría de los pacientes, el impacto de la migraña fue elevado. Los rasgos de personalidad que aparecieron más frecuentemente fueron: ansioso (53,7%), anancástico (44,5%), histriónico (40,9%) y dependiente (32,9%). El riesgo de migraña crónica fue superior en pacientes con el rasgo anancástico (riesgo relativo = 2,06; intervalo de confianza al 95% = 1,07-3,94; p = 0,027). Conclusiones. Hay rasgos de personalidad detectables con el cuestionario Salamanca muy frecuentes en pacientes migrañosos. En nuestra serie, el rasgo anancástico se relaciona con la presencia de migraña crónica (AU)

Introduction. Psychiatric comorbidity is frequent in cases of migraine and research has focused more on that related to affective disorders and anxiety than to personality traits. Aims. To study the presence of personality traits in persons with migraine and how they are related with the presence of chronic migraine or medication abuse. Patients and methods. Patients attended consecutively in five centres were evaluated. The 22 questions in the Salamanca screening questionnaire were used to explore 11 personality traits classified in three groups. Data were obtained concerning demographic characteristics and the impact of migraine. Results. The sample used in the study included 164 patients (134 females and 30 males), with a mean age of 36.6 ± 12.5 years (range: 18-78 years). In most patients, the impact of migraine was high. The personality traits that appeared most frequently ere: anxious (53.7%), anankastic (44.5%), histrionic (40.9%) and dependent (32.9%). The risk of chronic migraine was higher in patients with the anankastic trait (relative risk = 2.06; confidence interval at 95% = 1.07-3.94; p = 0.027). Conclusions. Some of the personality traits that can be detected with the Salamanca questionnaire are very common in patients with migraine. In our series, the anankastic trait is related with the presence of chronic migraine (AU)

[Personality traits in patients with migraine: a multi-centre study using the Salamanca screening questionnaire]. / Rasgos de personalidad en pacientes migrañosos: estudio multicentrico utilizando el cuestionario de cribado Salamanca.

INTRODUCTION: Psychiatric comorbidity is frequent in cases of migraine and research has focused more on that related to affective disorders and anxiety than to personality traits. AIMS: To study the presence of personality traits in persons with migraine and how they are related with the presence of chronic migraine or medication abuse. PATIENTS AND METHODS: Patients attended consecutively in five centres were evaluated. The 22 questions in the Salamanca screening questionnaire were used to explore 11 personality traits classified in three groups. Data were obtained concerning demographic characteristics and the impact of migraine. RESULTS: The sample used in the study included 164 patients (134 females and 30 males), with a mean age of 36.6 ± 12.5 years (range: 18-78 years). In most patients, the impact of migraine was high. The personality traits that appeared most frequently were: anxious (53.7%), anankastic (44.5%), histrionic (40.9%) and dependent (32.9%). The risk of chronic migraine was higher in patients with the anankastic trait (relative risk = 2.06; confidence interval at 95% = 1.07-3.94; p = 0.027). CONCLUSIONS: Some of the personality traits that can be detected with the Salamanca questionnaire are very common in patients with migraine. In our series, the anankastic trait is related with the presence of chronic migraine.

TITLE: Rasgos de personalidad en pacientes migrañosos: estudio multicentrico utilizando el cuestionario de cribado Salamanca.Introduccion. La comorbilidad psiquiatrica en migraña es frecuente, y se ha estudiado mas la relacionada con trastornos afectivos y ansiedad que los rasgos de personalidad. Objetivo. Estudiar la presencia de rasgos de personalidad en personas con migraña y su relacion con la presencia de migraña cronica o abuso de medicacion. Pacientes y metodos. Se evaluan pacientes atendidos consecutivamente en cinco centros. Se exploran, mediante las 22 preguntas del cuestionario de cribado Salamanca, 11 rasgos de personalidad agrupados en tres grupos. Se obtuvieron datos referentes a las caracteristicas demograficas e impacto de la migraña. Resultados. Se incluyeron en el estudio 164 pacientes (134 mujeres, 30 varones), con una edad media de 36,6 ± 12,5 años (rango: 18-78 años). En la mayoria de los pacientes, el impacto de la migraña fue elevado. Los rasgos de personalidad que aparecieron mas frecuentemente fueron: ansioso (53,7%), anancastico (44,5%), histrionico (40,9%) y dependiente (32,9%). El riesgo de migraña cronica fue superior en pacientes con el rasgo anancastico (riesgo relativo = 2,06; intervalo de confianza al 95% = 1,07-3,94; p = 0,027). Conclusiones. Hay rasgos de personalidad detectables con el cuestionario Salamanca muy frecuentes en pacientes migrañosos. En nuestra serie, el rasgo anancastico se relaciona con la presencia de migraña cronica.