Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing.

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.

Transcutaneous stimulation of the posterior tibial nerve for treating refractory urge incontinence of idiopathic and neurogenic origin.

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.

Peripheral neuropathy: an underdiagnosed cause of erectile dysfunction.

Objectives: • To assess the prevalence of peripheral neuropathy in patients with erectile dysfunction (ED). • To evaluate the reliability of clinical tests such as the five-item version of the International Index of Erectile Function (IIEF-5) and the Neuropathy Symptom Score (NSS) classification system in predicting the concurrence of peripheral neuropathy.

Patients And Methods: • We studied 90 patients who were consecutively recruited from the Department of Andrology of the Central Hospital of Asturias.

Sympathetic skin response in patients with erectile dysfunction.

Objectives: To evaluate the role of the sympathetic skin response (SSR) in men with erectile dysfunction (ED), focusing on detecting SSR in the penis.

Patients And Methods: We assessed the SSR in 82 patients with ED, as an indicator of abnormalities both in amyelinic C-fibres and in autonomic pathways in these patients. The SSR was carried out according to the to the Technical Standards of the International Federation of Clinical Neurophysiology.

[Neurogenic etiology in patients with erectile dysfunction].

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.