1/48. A novel deficiency of mitochondrial ATPase of nuclear origin.We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). A hypotrophic newborn from a consanguineous marriage presented severe lactic acidosis, cardiomegaly and hepatomegaly and died from heart failure after 2 days. The activity of oligomycin-sensitive ATPase was only 31-34% of the control, both in muscle and heart, but the activities of cytochrome c oxidase, citrate synthase and pyruvate dehydrogenase were normal. Electrophoretic and western blot analysis revealed selective reduction of ATPase complex but normal levels of the respiratory chain complexes I, III and IV. The same selective deficiency of ATPase was found in cultured skin fibroblasts which showed similar decreases in ATPase content, ATPase hydrolytic activity and level of substrate-dependent ATP synthesis (20-25, 18 and 29-33% of the control, respectively). pulse-chase labelling of patient fibroblasts revealed low incorporation of [(35)S]methionine into assembled ATPase complexes, but increased incorporation into immunoprecipitated ATPase subunit beta, which had a very short half-life. In contrast, no difference was found in the size and subunit composition of the assembled and newly produced ATPase complex. Transmitochondrial cybrids prepared from enucleated fibroblasts of the patient and rho degrees cells derived from 143B. TK(-)human osteosarcoma cells fully restored the ATPase activity, ATP synthesis and ATPase content, when compared with control cybrids. Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We conclude that the generalized deficiency of mitochondrial ATPase described is of nuclear origin and is caused by altered biosynthesis of the enzyme.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/48. pH-dependent fibrillogenesis of a VkappaIII bence jones protein.Disorders of immunoglobulin (Ig) synthesis that occur in malignant plasma-cell proliferation may result in either granular (LCDD) or fibrillar (AL) tissue deposition of light-chain monoclonal components. The structural features that govern the transition from soluble polypeptides to either fibrillar or granular conformational states remain undefined. Among the many factors presumed to play a role in these transitions the net charge of the molecule has been associated with folding conformation changes. The majority of the proteins involved in AL amyloidosis show acidic isoelectric points (pI 3.8-5.2), whereas most L chains with basic pIs deposit in granular patterns. In our studies a 12 kD VkappaIII fragment was purified as the main component of the fibrils isolated from myocardium and adipose tissue of the pericardium obtained post-mortem from an individual with systemic AL amyloidosis. An apparently identical 12 kD VL fragment with the same N-terminal sequence constituted the BJ protein present in the urine. This urinary protein exhibited strikingly cathodic electrophoretic mobility on agarose gels and lacked retention by anionic exchange chromatography matrices, indicative of a highly basic pI (>10). When it was subjected to in vitro fibril-formation experiments, the BJ protein adopted a fibrillar conformation only at acidic pHs, remaining aggregated but not fibrillar at physiological pH. The data indicate that a specific tissue deposition pattern involves not only structural properties of the protein but rather more complex mechanisms in which acidic micro-environments may contribute to the stabilization of amyloidogenic conformations.- - - - - - - - - - ranking = 39.717653718026keywords = adipose (Clic here for more details about this article) |
3/48. Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome).Total generalized lipodystrophy (Berardinelli - Seip syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli - Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.- - - - - - - - - - ranking = 39.717653718026keywords = adipose (Clic here for more details about this article) |
4/48. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).Cantu syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the 44-year-old father and his two children (a male and female), aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. This is the first reported instance of male-to-male transmission of CS. With the paternal age effect found in the reported sporadic cases and the segregation analysis [Robertson et al., 1999], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantu et al. [1982] could be explained by parental gonadal mosaicism.- - - - - - - - - - ranking = 2keywords = fat (Clic here for more details about this article) |
5/48. Fatal arrhythmia in a juvenile athlete due to myocardial hypertrophy and infarction.This report is a case history of a 16-year-old highly trained athlete who suffered from ventricular fibrillation during exhaustive physical activity. After resuscitation and admission into hospital ECG revealed posterior wall infarction. thrombolytic therapy was advised and ST-segment elevation reversed. Within 48 h cerebral edema evolved due to hypoxic brain damage and the subject deceased after 16 days despite prolonged maximum antiedematous therapy. autopsy confirmed the diagnosis of concentric myocardial hypertrophy (total heart weight 568 g) without signs of coronary artery disease. Systemic inflammatory diseases and drug abuse were ruled out by lab studies, evidence for viral infection was not found. Thus, relative coronary insufficiency in regard to myocardial hypertrophy during excessive athletic activity must be viewed as cause for the fatal arrhythmia.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
6/48. Milder childhood form of very long-chain acyl-coa dehydrogenase deficiency in a 6-year-old Japanese boy.We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-coa dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated plasma levels of creatine phosphokinase and acyl-carnitine and a fatty liver at biopsy suggesting a diagnosis of VLCAD deficiency. CONCLUSION: The diagnosis of very long-chain acyl-coa dehydrogenase deficiency was supported by the results of acyl-coa dehydrogenase activity for C8 and C16 fatty acids in skin fibroblasts from the patient. Treatment with medium chain triglycerides and L-carnitine in the diet improved his hepatomegaly and cardiomegaly.- - - - - - - - - - ranking = 2keywords = fat (Clic here for more details about this article) |
7/48. Typhoid cardiac involvement.Three cases of typhoid cardiac complications are reported. Salmonella typhi was the aetiological agent in all three; The discovery of 3 patients over a period of 18 months merits special interest, especially since typhoid fever is endemic in the area concerned. The significance of the complication reported here is further enhanced by absence of similar specific cases in the English literature dealing with cardiac salmonellosis. One of the cases described in this article, the only fatality of the series, developed a rhythm disturbance identical with that of a patient whose myocardial abscess was due to salmonella typhimurium. The rarity of typhoid cardiac complications may be deceptive; The septicaemic disturbance may mask it and one must note that cardiac salmonellosis is reported from developed countries, where typhoid fever is a rarity.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
8/48. Cystic thymoma simulating contrictive pericarditis. The role of echocardiography in the differential diagnosis.A case is presented of a 60-year-old woman with fatigue, dyspnea, and chest pain. A chest x-ray film revealed an abnormal cardiac silhouette. echocardiography revealed a large, echo-free area with well-demarcated, discrete borders adjacent to the right heart border. This structure decreased in size with inspiration and did not show pulsatile cardiac motion. cardiac catheterization confirmed the extracardiac nature of the lesion and also showed a "constrictive" pattern with equalization of diastolic pressures. Surgical exploration revealed a large cystic thymoma. With removal of the tumor, intracardiac pressures returned to normal.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
9/48. Localized left ventricular myocardial defect leading to fatal cerebral embolism.The case of a previously health 17-year-old youth who presented a fatal cerebral infarct is described. A localized defect in the anterior left ventricular myocardium with overlying thrombus, and left ventricular hypertrophy were found at necropsy. An old infarct was found in the left kidney. There were no signs of ischaemic or inflammatory heart disease. The possible origins of the lesion are discussed.- - - - - - - - - - ranking = 5keywords = fat (Clic here for more details about this article) |
10/48. Familial centronuclear myopathy associated with 'cardiomyopathy'.Two cases of familial centronuclear myopathy are described. Both presented features of 'cardiomyopathy and one had signs of slight congenital aortic stenosis. The 'cardiomyopathy' was fatal in one case. The clinical histological, and necropsy findings are presented and discussed.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
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