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Annis Marney

Publications and source records attributed to Annis Marney.

2 recordsLinked to original sources

Aortic stenosis and autonomic dysfunction: co-conspirators in syncope.

Autonomic dysfunction and aortic stenosis share several clinical characteristics, including, in severe cases, syncope. Both illnesses tend to manifest later in life, and most cases are idiopathic in origin. In a short period of 4 weeks, the authors noted that three patients out of 36 referrals for autonomic dysfunction also had histories of aortic valve replacement due to stenosis. In each case, similar presenting symptoms of fatigue, light-headedness, and syncope were attributed to aortic stenosis without mention of autonomic failure as a possible contributor. The authors propose that patients for whom symptoms of aortic valve stenosis are not relieved by surgical intervention may have concomitant autonomic dysfunction contributing significantly to their symptoms. Furthermore, the two conditions may comprise a dangerous combination, aortic stenosis causing physical obstruction of ventricular outflow, and autonomic dysfunction causing decreased venous return and insufficient cardiac filling. It may be beneficial for patients with aortic stenosis who present with syncope to be considered for possible autonomic dysfunction to address both potential pathophysiologies contributing to the syncope.

Aged↗

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

Familial pulmonary fibrosis is a heterogeneous group of interstitial lung diseases of unknown cause that is associated with multiple pathologic subsets. Mutations in the surfactant protein C (SP-C) gene (SFTPC) are associated with familial desquamative and nonspecific interstitial pneumonitis. Genetic studies in familial usual interstitial pneumonitis have been inconclusive. Using a candidate gene approach, we found a heterozygous exon 5 + 128 T-->A transversion of SFTPC in a large familial pulmonary fibrosis kindred, including adults with usual interstitial pneumonitis and children with cellular nonspecific interstitial pneumonitis. The mutation is predicted to substitute a glutamine for a conserved leucine residue and may hinder processing of SP-C precursor protein. SP-C precursor protein displayed aberrant subcellular localization by immunostaining. Electron microscopy of affected lung revealed alveolar type II cell atypia, with numerous abnormal lamellar bodies. Mouse lung epithelial cells transfected with the SFTPC mutation were notable for similar electron microscopy findings and for exaggerated cellular toxicity. We show that an SFTPC mutation segregates with the pulmonary fibrosis phenotype in this kindred and may cause type II cellular injury. The presence of two different pathologic diagnoses in affected relatives sharing this mutation indicates that in this kindred, these diseases may represent pleiotropic manifestations of the same central pathogenesis.

Adolescent↗