Whole-exome sequencing of samples from affected members of two unrelated families with late-onset non-syndromic hearing loss revealed a novel mutation (c.2090 T > G; NM_017433) in MYO3A. The mutation was confirmed in 36 affected individuals, showing autosomal dominant inheritance. The mutation alters a single residue (L697W or p.Leu697Trp) in the motor domain of the stereocilia protein MYO3A, leading to a reduction in ATPase activity, motility, and an increase in actin affinity. MYO3A-L697W showed reduced filopodial actin protrusion initiation in COS7 cells, and a predominant tipward accumulation at filopodia and stereocilia when coexpressed with wild-type MYO3A and espin-1, an actin-regulatory MYO3A cargo. The combined higher actin affinity and duty ratio of the mutant myosin cause increased retention time at stereocilia tips, resulting in the displacement of the wild-type MYO3A protein, which may impact cargo transport, stereocilia length, and mechanotransduction. The dominant negative effect of the altered myosin function explains the dominant inheritance of deafness.

Introduction: Heart transplantation is currently the only widely accepted surgical alternative to treat patients with severe heart failure (HF) drug therapy cannot maintain optimal quality of life appropriate.Objective: To describe and to compare the values between pre-and postoperative physical capacity and pulmonary patients who underwent heart transplantation.Methods: A retrospective cohort composed of patients undergoing heart transplantation between January 2001 to March 2005 in IC-FUC/RS.Results: Were included in the 21 individuals. We observed decreased levels of volume and lung capacity (FEV1 and FVC) in the first days after surgery compared to preoperatively (P <0.001) and recovery of these values in the 14th postoperative day (P <0.001). The values of muscle strength showed similar trends in reducing post-operative period compared to preoperative (P <0.001) and recovered on the 14 th postoperative day (P <0.001). A useful functional capacity, measured by testing 6-minute walk test (T6') showed improvement in the 14 th postoperative day in relation to pre-operatively (P <0.001). Conclusion:Changes in ventilatory function of subjects undergoing cardiac transplantation are predictable, but these recover respiratory muscle strength and lung capacity within two weeks, and improve functional capacity useful in relation to pre-operative, the transplantation, when indicated, associated with good functional rehabilitation is very god treatment strategy.Descriptors: Heart transplantation. Respiratory function tests. Forced expiratory flow rates. Exercise therapy. ResumoIntrodução: O transplante cardíaco é atualmente a única alternativa cirúrgica amplamente aceita para tratar pacientes com insuficiência cardíaca (IC) grave que a terapia medicamentosa otimizada não consiga manter qualidade de vida adequada.Objetivo: Descrever e comparar os valores entre pré e pós-operatório, das capacidades física e pulmonar de pacientes que realizaram transplante cardíaco. Bras Cir Cardiovasc 2010; 25(2): 190-196 bed, coughing and control techniques of pain [7,12], in addition to the practice of aerobic exercises. [17]. CORONEL, CC ET AL -Perioperative variables of ventilatory function and physical capacity in heart transplant patients RevDespite all the risks that patients with transplanted organ has to infection and rejection, this technique has shown great efficacy in survival, presenting results of survival rate of 90% in the first year and 87% in the fifth year posttransplant with good quality of life [18].This study aims to describe the values of physical and pulmonary abilities of patients who underwent heart transplant and who underwent conventional physiotherapy. Moreover, it aims to evaluate and compare the physical capacity of patients preoperatively and on day 14 th postoperative heart transplant and to evaluate and compare the forced vital capacity, forced expiratory volume in one second, maximum inspiratory muscle strength and the maximal expiratory muscle strength in pre-, 1st, 7th and 14 th postoperativ...

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Efeitos do óxido nítrico inalatório na hipertensão pulmonar de pacientes após cirurgia valvar mitral Effects of inhaled nitric oxide on pulmonary hypertension in patients after mitral valve surgery Abstract Objective: Cardiac surgery in patients with pulmonary hypertension may present severe postoperative complications. The study consists of verifying the effects of using inhaled nitric oxide (iNO) in patients during the postoperative period of mitral valve surgery. Methods: The effects of iNO were measured mainly by verifying changes in pulmonary artery pressure (PAP). Other measures performed included mean arterial pressure (MAP), mean central venous pressure (CVP), mean left atrial pressure (LAP), oxygen saturation by pulse oximetry, and static pulmonary compliance. Results: In the 20 patients studied, a median time of iNO use of 19.1 hours was obtained. The mean PAP was significantly reduced from 33.8 ± 6.17 mm Hg (pre-iNO) to 29.1 ± 6.46 mm Hg in the initial 30 min and to 28.4 ± 5.22 mm Hg considering the mean of all post-iNO measures (p< 0.05). No significant changes occurred in the other hemodynamic measures. Conclusion: The findings indicate that the use of iNO, in post-operative period of mitral valve operation associated with pulmonary hypertension, reduces PAP without systemic effects, demonstrating a selective vasodilator effect on the pulmonary vascular system.