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.

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.