Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies.

The cardiovascular abnormalities were investigated in two unrelated hemizygous males with Fabry disease who had clinical mitral insufficiency. Postmortem examination of their hearts revelaed anatomic, ultrastructural and biochemical abnormalities resulting from defective activity of the lysosomal enzyme, alpha-galactosidase A. The ultrastructural and biochemical studies demonstrated the marked ...

Studies in Borreliae II. Some Immunologic, Biochemical and Physical Properties of the Antigenic Components of Borrelia turicatae

Cataract in gyrate atrophy: clinical and morphologic studies.

The clinical appearance of the cataract in nine phakic patients with gyrate atrophy of the choroid and retina is described. The gross and microscopic examination of three cataractous lenses removed from patients 31 years to 47 years of age is reported. Clinically, the lens opacities appeared primarily along the confluence of the sutures posteriorly, interfering with vision because of their loca...

Familial cervical artery dissections: clinical, morphologic, and genetic studies.

BACKGROUND AND PURPOSE Genetic risk factors are thought to play a role in the etiology of spontaneous cervical artery dissections (CAD). However, familial CAD is extremely rare. In this study we analyzed patients with familial CAD and asked the question whether familial CAD has particular features. METHODS Seven families with 15 CAD patients were recruited. All patients were carefully investi...

Morphologic and biochemical hallmarks of apoptosis.

Apoptosis is characterised by a series of typical morphological features, such as shrinkage of the cell, fragmentation into membrane-bound apoptotic bodies and rapid phagocytosis by neighbouring cells. This paper reviews the current knowledge on the molecular mechanisms of apoptosis as they relate to the morphologic hallmarks and their implications for the detection of apoptosis in cardiac tiss...