A child with dilated cardiomyopathy and homozygous splice site variant in gene.

gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in were initially linked to myofibrillar myopathy and over time, evidence showed association of this gene with different forms of autosomal dominant cardiomyopathy including hypertrophic, dilated and restrictive forms. Recently, two cases of recessive mutations have been reported by Reinstein et al.

Tricuspid Valve Tethering Is Associated with Residual Regurgitation after Valve Repair in Hypoplastic Left Heart Syndrome: A Three-Dimensional Echocardiographic Study.

Background: Tricuspid valve regurgitation (TR) is a risk factor for morbidity and mortality in children with hypoplastic left heart syndrome (HLHS). Surgical tricuspid valve (TV) repair is common, but durable repair remains challenging. The aim of this study was to examine mechanisms of TR requiring surgery, features associated with unsuccessful repair, and TV changes after surgical repair.

[Urodynamic aspects of feminine urinary incontinence treated with slings].

Objectives: Treatment of feminine stress urinary incontinence (SUI) with slings aims to supplement the function of the damaged ligaments, favoring the correct transmission of the tensions. Our objective is to determine which preoperative variables could predict the outcome of surgical treatment of SUI and to study the urodynamic changes produced by the surgery.

Material And Methods: 139 women (age X =61.

[Contasure Needleless: a single incision tot for the surgical treatment of stress urinary incontinence].

Summary Objectives: The aim of this study is to describe the surgical technique, and assess the complications and middle-term results of the Contasure Needleless (Neomedic International), a single incision TOT sling for the surgical treatment of stress urinary incontinence. The main concept of this device is that it is not a mini-sling, it has 138% more surface area. We are analyzing the results of a minimally invasive solution that is a TOT like sling with the same known benefits of a TOT and the advantages of a single incision technique.

[Changes in detrusor contractility in bladder hyperreflexia].

Objectives: Classically, it was understood detrusor contractility was affected in bladder areflexia but not in hyperreflexia. We aim to demonstrate that there is some detrusor contractility affectation in bladder hyperreflexias, although it may seem paradoxical at first sight.

Methods: Neuro-urologic study was performed in a series of 68 consecutive patients with bladder hyperreflexia (neurogenic detrusor hyperactivity), referred to the unit of functional urology for urodynamic evaluation.