Elevated intraneural vascularization of the median nerve proximal to the arteriovenous fistula in hemodialysis patients suspected of carpal tunnel syndrome: A case series.

Patients with end-stage kidney disease may require creation of an arteriovenous fistula in order to receive hemodialysis treatment. The creation may result in several complications, including carpal tunnel syndrome. Early diagnosis and treatment are essential to relieve symptoms, prevent permanent nerve damage, and improve quality of life.

Patient reported outcomes in a secondary progressive MS cohort related to cognition, MRI and physical outcomes.

Background: Patient-reported outcomes (PROs) are increasingly being used as outcomes in secondary progressive multiple sclerosis (SPMS) trials. We examined how PROs reflect disease burden in SPMS.

Methods: In this observational prospective study, 65 SPMS patients were examined by five different PROs (Fatigue Scale Motor Cognition (FSMC), Multiple Sclerosis Impact Scale version 2 (MSIS-29v2), 36-Item Short Form Health Survey version 2 (SF-36v2), EQ-5D-5L and Work Productivity and Activity Impairment Questionnaire: Multiple Sclerosis version 2.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons of the dorsal root ganglia. The recurrent substitution in TRPM3: c.2509G>A, p.

Epilepsy features in ARID1B-related Coffin-Siris syndrome.

Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet. We report seven patients with ARID1B-related CSS, focusing on epilepsy and its electroclinical features.

The epilepsy specialist nurse: A mixed-methods case study on the role and activities.

Purpose: To describe the role and activities of epilepsy specialist nurses (ESNs) operating as a team in the setting of a hospital specialising in the diagnosis and management of seizure disorders.

Methods: We conducted a descriptive mixed-methods embedded single case study. We recruited 9 ESNs, 14 of their professional colleagues and 9 'key informants' to analyse their perceptions of the role and activities of ESNs.

The personalised discharge letter: the experience of patients and parents from the Filadelfia Epilepsy Hospital.

Objective: To examine the experience of a discharge letter received by patients suffering from epilepsy and parents with children who suffer from epilepsy.

Design: Qualitative research inspired by a phenomenological methodology approach.

Setting: Face-to-face interviews with patients and parents of epileptic children in their own homes.

The multifaceted role of the Epilepsy Specialist Nurse: Literature review and survey study on patient and medical Staff Perceptions.

Background: Epilepsy is frequently accompanied by learning, behavioural and psychological difficulties, therefore the management of this pathology extends far beyond the use of antiepileptic drugs. The specialist-nurse-service provides a multifaceted management. This study adds new points of view on how epilepsy-specialist-nurses work, the benefits they produce and their feedback.