Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F / Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing

Un varón de 4 años, sin antecedentes relevantes, consulta por disminución de agudeza visual bilateral, más acusada en condiciones escotópicas, que no mejora con corrección óptica. No se aprecian alteraciones fundoscópicas significativas, por lo que se sospecha una distrofia retiniana. La secuenciación del gen CACNA1F detecta la mutación c.3081C > A (p.Tyr1027Ter), que se ha producido de novo en la madre del paciente. Esta mutación, en el contexto clínico referido y con un patrón electronegativo compatible, establece el diagnóstico de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X. La electrofisiología y el estudio genético deben formar parte del protocolo diagnóstico de cualquier pérdida de visión inexplicada en niños. La descripción, la nomenclatura y la clasificación de las distrofias retinianas hereditarias con base en sus características genotípicas y electrorretinográficas evita los errores diagnósticos derivados de su habitual superposición clínica y fenotípica

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C > A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap

Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing. / Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F.

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C>A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap.

Estimulación transcutánea del nervio tibial posterior en el tratamiento de la incontinencia urinaria de urgencia refractaria, de origen idiopático y neurógenico / Transcutaneous stimulation of the posterior tibial nerve for treating refractory urge incontinence of idiopathic and neurogenic origin

Objetivo: Evaluar la eficacia del tratamiento con la estimulación transcutánea del nervio tibial posterior (T-PTNS) en pacientes con incontinencia urinaria de urgencia, de origen neurógenico o no neurógenico, refractaria a las opciones terapéuticas de primera línea. Material y métodos: Se incluyeron 65 pacientes con incontinencia urinaria de urgencia refractaria a tratamiento médico. Antes de T-PTNS se realizó anamnesis, estudio urodinámico y potenciales evocados somatosensoriales (PESS), estudiando el estado funcional urólogico mediante un diario miccional. El tratamiento consistió en 10 sesiones semanales de T-PTNS de 30 minutos de duración. Resultados: Un 57,7% de los pacientes presentaban PESS tibiales anormales y en un 42% PESS pudendos anormales. Se objetivó una mejoría sintomática estadísticamente significativa en todos los parámetros clínicos tras el tratamiento con T-PTNS, y en el 66% se evidenció una mejora global, independientemente del género, presencia de alteraciones neurológicas de base, hiperactividad detrusoriana en el estudio urodinámico o trastornos en los PESS. No se produjeron efectos adversos durante el tratamiento. Conclusiones: T-PTNS es un tratamiento efectivo y bien tolerado en pacientes con incontinencia de urgencia refractaria a terapias de primera línea, y debería ser ofrecida precozmente en la estrategia de tratamiento. Son necesarios nuevos estudios para identificar los parámetros óptimos de estimulación, los protocolos de tratamiento más efectivos y la eficacia a largo plazo, así como su aplicabilidad a pacientes con un sustrato neurogénico

Objective: To assess the efficacy of treatment with transcutaneous posterior tibial nerve stimulation (TPTNS) in patients with urge urinary incontinence, of neurogenic or nonneurogenic origin, refractory to first-line therapeutic options. Material and methods We included 65 patients with urge urinary incontinence refractory to medical treatment. A case history review, a urodynamic study and a somatosensory evoked potentials (SEP) study were conducted before the TPTNS, studying the functional urological condition by means of a voiding diary. The treatment consisted of 10 weekly sessions of TPTNS lasting 30 minutes. Results: Some 57.7% of the patients showed abnormal tibial SEPs, and 42% showed abnormal pudendal SEPs. A statistically significant symptomatic improvement was observed in all clinical parameters after treatment with TPTNS, and 66% of the patients showed an overall improvement, regardless of sex, the presence of underlying neurological disorders, detrusor hyperactivity in the urodynamic study or SEP disorders. There were no adverse effects during the treatment. Conclusions: TPTNS is an effective and well tolerated treatment in patients with urge incontinence refractory to first-line therapies and should be offered early in the treatment strategy. New studies are needed to identify the optimal parameters of stimulation, the most effective treatment protocols and long-term efficacy, as well as its applicability to patients with a neurogenic substrated

Transcutaneous stimulation of the posterior tibial nerve for treating refractory urge incontinence of idiopathic and neurogenic origin. / Estimulación transcutánea del nervio tibial posterior en el tratamiento de la incontinencia urinaria de urgencia refractaria, de origen idiopático y neurógenico.

OBJECTIVE: To assess the efficacy of treatment with transcutaneous posterior tibial nerve stimulation (TPTNS) in patients with urge urinary incontinence, of neurogenic or nonneurogenic origin, refractory to first-line therapeutic options. MATERIAL AND METHODS: We included 65 patients with urge urinary incontinence refractory to medical treatment. A case history review, a urodynamic study and a somatosensory evoked potentials (SEP) study were conducted before the TPTNS, studying the functional urological condition by means of a voiding diary. The treatment consisted of 10 weekly sessions of TPTNS lasting 30minutes. RESULTS: Some 57.7% of the patients showed abnormal tibial SEPs, and 42% showed abnormal pudendal SEPs. A statistically significant symptomatic improvement was observed in all clinical parameters after treatment with TPTNS, and 66% of the patients showed an overall improvement, regardless of sex, the presence of underlying neurological disorders, detrusor hyperactivity in the urodynamic study or SEP disorders. There were no adverse effects during the treatment. CONCLUSIONS: TPTNS is an effective and well tolerated treatment in patients with urge incontinence refractory to first-line therapies and should be offered early in the treatment strategy. New studies are needed to identify the optimal parameters of stimulation, the most effective treatment protocols and long-term efficacy, as well as its applicability to patients with a neurogenic substrate.

[The physiopathology and management of sexual dysfunction in epileptic patients]. / Fisiopatología y abordaje de la disfunción sexual en pacientes epilépticos.

AIM: To review sexual dysfunction in epileptic patients, which is an aspect of the disease that is often deemed as being of little importance, but which exerts a decisive influence on the quality of life of these patients. DEVELOPMENT: The alterations in sexual functioning in epilepsy have a complex physiopathology, can be of different types and occur during seizures, the aura or in the intercritical periods. Their clinical expression depends on the sex and age of the patient. The severity and incidence of sexual dysfunction are influenced by the treatment being used, the psychosocial adjustment of the individual, and certain aspects of epilepsy such as the age at onset, time to progression, location of the focus, the type of seizures and the degree of control the patient has over them. The therapeutic strategy is based on adjusting or modifying the antiepileptic therapy and then treating the sexual dysfunction and/or possible hormonal upsets. CONCLUSIONS: Sexuality is a fundamental human right and as a health provider, the physician must take this aspect of the disease into account when dealing with epileptic patients by attempting to detect and characterise the disorder. The patient must be informed of the possible effects of epilepsy and its treatment on sexual functioning, and also the therapeutic options the physician considers to be best suited to the patient's particular case. He or she should also be encouraged to play an active role in making decisions on the matter and it is necessary to carry out developmental monitoring that takes into account the impact that improved sexual functioning is going to have on the patient's psychosocial and family adjustment.

Fisiopatología y abordaje de la disfunción sexual en pacientes epilépticos / The physiopathology and management of sexual dysfunction in epileptic patients

Revisar la disfunción sexual en epilépticos, un aspecto de la enfermedad a menudo infravalorado, peroque puede influir decisivamente sobre la calidad de vida de estos pacientes. Desarrollo. Las alteraciones de la función sexual en la epilepsia tienen una fisiopatología compleja, pueden ser de diferentes tipos y acontecer durante las crisis, el aura o los períodos intercríticos. Su expresión clínica depende del sexo y la edad de los pacientes. El tratamiento utilizado, el ajuste psicosocial del individuo y determinados aspectos de la epilepsia, como la edad de comienzo, el tiempo de evolución, la localización del foco, el tipo de crisis y el grado de control de las mismas, influyen sobre la gravedad y la incidencia de la disfunción sexual. La estrategia terapéutica se basa en ajustar o modificar la terapia antiepiléptica y abordar después la disfunción sexual y/o las posibles alteraciones hormonales. Conclusiones. La sexualidad es un derecho fundamental del ser humano, y ante un paciente epiléptico es obligación del médico, como proveedor de salud, atender este aspecto de la enfermedadtratando de detectar y caracterizar la alteración, informando al paciente de los posibles efectos de la epilepsia y su tratamiento sobre la función sexual, exponiéndole las opciones terapéuticas que considera más adecuadas, animándole a participar activamente en la toma de decisiones al respecto, y realizando un control evolutivo que tenga en cuenta el impacto que la mejoría de la función sexual va a producir sobre el ajuste psicosocial y familiar del paciente

To review sexual dysfunction in epileptic patients, which is an aspect of the disease that is often deemed asbeing of little importance, but which exerts a decisive influence on the quality of life of these patients. Development. The alterations in sexual functioning in epilepsy have a complex physiopathology, can be of different types and occur during seizures, the aura or in the intercritical periods. Their clinical expression depends on the sex and age of the patient. Theseverity and incidence of sexual dysfunction are influenced by the treatment being used, the psychosocial adjustment of the individual, and certain aspects of epilepsy such as the age at onset, time to progression, location of the focus, the type of seizures and the degree of control the patient has over them. The therapeutic strategy is based on adjusting or modifying the antiepileptic therapy and then treating the sexual dysfunction and/or possible hormonal upsets. Conclusions. Sexuality is a fundamental human right and as a health provider, the physician must take this aspect of the disease into account whendealing with epileptic patients by attempting to detect and characterise the disorder. The patient must be informed of the possible effects of epilepsy and its treatment on sexual functioning, and also the therapeutic options the physician considers tobe best suited to the patient's particular case. He or she should also be encouraged to play an active role in making decisions on the matter and it is necessary to carry out developmental monitoring that takes into account the impact that improved sexual functioning is going to have on the patient’s psychosocial and family adjustment

Etiología neurógena en pacientes con disfunción eréctil / Neurogenic etiology in patients with erectile dysfunction

Objetivo: La disfunción eréctil (DE) es una alteración cuya prevalencia es elevada y aumenta con la edad. Se estima que en España afecta al 18,9% de los varones de 25 a 70 años. En la mayor parte de los casos es de origen multifactorial y en su patogenia se admite la influencia de enfermedades sistémicas, fármacos de diferentes tipos, factores psicógenos, patologías cardiovasculares, endocrinopatías y alteraciones neurológicas. La disfunción eréctil de causa neurológica puede tener su origen a nivel del Sistema Nervioso Central o Periférico. Entre las posibles causas de disfunción eréctil neurógena de origen central estarían tumores, accidentes cerebrovasculares, encefalitis, Enfermedad de Parkinson, Esclerosis Múltiple y otras enfermedades desmielinizantes, demencias, degeneración olivo pontocerebelosa y epilepsia. Las mielopatías de cualquier etiología, pueden ser dependiendo de su localización o extensión, causas de disfunción eréctil. A nivel periférico pueden ser causa de DE las alteraciones de las vías sensitivas que constituyen el brazo aferente del reflejo espinal de la erección y las de las vías eferentes vegetativas o somáticas que median en la vasodilatación arterial, la relajación del músculo liso cavernoso o la contracción de la musculatura estriada del suelo de la pelvis. La finalidad de este trabajo es revisar detalladamente las causas más relevantes de DE de origen neurógeno, sus mecanismos etiopatogénicos y los abordajes terapéuticos que en la actualidad se consideran más adecuados para cada caso particular. Conclusión: La correcta aproximación diagnóstica al paciente con DE pasa por identificar, en la medida de lo posible, los factores etiopatogénicos implicados su origen. En este sentido, la detección e identificación, de la posible presencia del factor de riesgo neurógeno, contribuirá a un mejor entendimiento de sus mecanismos fisiopatológicos y con ello a una aproximación diagnóstica, pronóstica y terapéutica más adecuada especialmente en aquellos pacientes refractarios a la terapia de primera línea (AU)

Objectives: Erectile dysfunction (ED) is a disorder with a high prevalence that increases with age. It is estimated that 18.9% of men’s between 25 and 70 years suffer it in Spain. Most cases have a multifactorial origin and it is admitted the influence on its pathogenesis of systemic diseases, different kind of drugs, psychogenic factors, cardiovascular, endocrinological and neurological diseases. Neurologic cause erectile dysfunction may have its origin in the central or peripheral nervous system. Among possible process of neurogenic erectile dysfunction of central origin would be tumors, cerebral vascular accidents, encephalitis, Parkinson disease, multiple sclerosis and other demyelinization diseases, dementias, olivopontocerebellar degeneration and epilepsy. Myelopathies of any etiology may be, depending on their localization and extension, cause of erectile dysfunction. At the peripheral level, disorders of the sensitive tracts constituting the afferent limb of the erection spinal reflex, and the efferent vegetative or somatic tracts mediating arterial vasodilatation, cavernous smooth muscle relaxation or pelvic floor striated muscle contraction. The aim of this work is to review in detail the most relevant causes of neurogenic erectile dysfunction, their etiopathogenic mechanisms and therapeutic approaches currently considered more adequate for each particular case. Conclusions: The correct diagnostic approach to patients with erectile dysfunction passes through identification, if possible, of the etiopathogenic factors implied. Regarding this, detection and identification of a possible neurogenic risk factor will contribute to a better understanding of the physiopathology mechanisms, and more adequate diagnostic, prognostic and therapeutic approaches, mainly in those patients refractory to first line therapy (AU)