RESUMO
Obesity is a common chronic disorder and has detrimental long-term consequences if left untreated. Herein, we report a case of a young lady who suffered from morbid obesity and many of its consequences, and we present a literature review of these complications. While the cause of obesity is multifactorial, the genetic component is particularly important in the pathophysiology of marked obesity. Resistance to Leptin is considered one of the main causes of obesity. There is a unique relationship between polycystic ovary syndrome and obesity, as observed in our case. Obesity is associated with cardiovascular and lung diseases such as heart failure, thromboembolic disease, sleep apnea, and pulmonary hypertension. Our patient had cardiomegaly (730 gm) with eccentric hypertrophy of left and right ventricles. The coronary arteries and aorta were free of atherosclerosis, which is a surprising finding that relates to the mysterious phenomenon of obesity paradox. The terminal event in our young woman was multiple segmental and subsegmental pulmonary arterial thrombi/thromboemboli superimposed on chronic cardiopulmonary stress due to massive obesity.
RESUMO
ABSTRACT Obesity is a common chronic disorder and has detrimental long-term consequences if left untreated. Herein, we report a case of a young lady who suffered from morbid obesity and many of its consequences, and we present a literature review of these complications. While the cause of obesity is multifactorial, the genetic component is particularly important in the pathophysiology of marked obesity. Resistance to Leptin is considered one of the main causes of obesity. There is a unique relationship between polycystic ovary syndrome and obesity, as observed in our case. Obesity is associated with cardiovascular and lung diseases such as heart failure, thromboembolic disease, sleep apnea, and pulmonary hypertension. Our patient had cardiomegaly (730 gm) with eccentric hypertrophy of left and right ventricles. The coronary arteries and aorta were free of atherosclerosis, which is a surprising finding that relates to the mysterious phenomenon of obesity paradox. The terminal event in our young woman was multiple segmental and subsegmental pulmonary arterial thrombi/thromboemboli superimposed on chronic cardiopulmonary stress due to massive obesity.
RESUMO
To assess the detailed expression pattern of mitochondrial-encoded proteins in skeletal muscle of patients with mitochondrial diseases we performed determinations of cytochrome content and enzyme activities of respiratory chain complexes of 12 patients harboring large-scale deletions and of 10 patients harboring the A3243G mutation. For large-scale deletions we observed a mutation gene dose-dependent linear decline of cytochrome aa3 content, cytochrome c oxidase (COX) activity, and complex I activity. The content of cytochromes b and the complex III activity was either not affected or only weakly affected by the deletion mutation and did not correlate to the degree of heteroplasmy. In contrast, in skeletal muscle harboring the A3243G mutation all investigated enzymes containing mitochondrial-encoded subunits were equally affected by the mutation, but we observed milder enzyme deficiencies at a comparable mutation gene dose. The results of single fiber analysis of selected biopsies supported these findings but revealed differences in the distribution of COX deficiency. Whereas predominantly type I fibers were affected in A3243G and deletion CPEO biopsies, we observed in MELAS and KSS biopsies higher quantities of COX-deficient type 2 fibers. Our findings indicate different pathomechanisms of deletion and A3243G mutations.