Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome).

Selecting the best site for pacing leads after cardiac surgery by evaluating the asynchrony of myocardial deformation observed with different pacing sites.

Introduction And Objectives: After cardiac surgery, temporary pacing leads are routinely implanted in the right ventricle (RV). The objective was to investigate the effect of different ventricular pacing locations on cardiac synchrony (by evaluating myocardial deformation, or strain) and efficiency in patients undergoing cardiac surgery.

Methods: Interventricular asynchrony (i.

On the diagnosis of CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic arteriopathy related to Notch3 mutations, is difficult to diagnosis. The goal of this study was to determine the value of clinical, immunohistochemical, and molecular techniques for the diagnosis of CADASIL. Clinical features and the immunohistochemical and molecular findings in 200 subjects with suspected CADASIL in whom 93 biopsies and 190 molecular studies are reported.

An XX male with an intratubular undifferentiated germ cell neoplasia.

Objective: To report a case of a 46,XX male with an intratubular undifferentiated germ cell neoplasia within an extra-abdominal gonad.

Design: Case report.

Setting: Molecular, cytogenetic, pathologic, and clinical units of three tertiary hospitals.

Role of insulin-like growth factor I signaling in neurodegenerative diseases.

Disturbed trophic support to neurons has long been considered a potential mechanism in neurodegeneration. Recent evidence indicates that intracellular trophic signaling may be compromised in several neurodegenerative diseases. Changes in the levels of insulin-like growth factor I (IGF-I), a trophic hormone with multiple neuroprotective actions, have recently been observed in several human neurodegenerative illnesses.