Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Medical records of 12 dogs determined at necropsy as having had cardiomyopathy and of 5 live dogs with clinical, electrocardiographic and radiographic evidence of the disease were reviewed. Congestive cardiomyopathy was the most common form of the disease, affecting 15 of the 17 dogs. The dogs were primarily of large breeds and ranged in age from 2 to 8 years. Clinical findings included right and left congestive heart failure presenting as pulmonary congestion and edema, pleural effusion, hepatomegaly, and ascites. Thoracic radiographs showed moderate severe enlargement of all cardiac chambers and evidence of congestive heart failure. Atrial fibrillation was the predominant rhythmn; ventricular premature contractions and left ventricular hypertrophy were sometimes noted. At necropsy, biventricular dilation including dilation of the atrioventricular annular rings and accompanying massive atrial dilation was observed. Myocardial contractility was poor and had resulted in dilation of the heart chambers with minimal hypertrophic responses. The atrioventricular valve leaflets and chordae tendinae were usually near normal. Medical treatment included rest, digoxin, and diuretics, Medical or electrical cardioversion of atrial fibrillation to normal sinus rhythm was also attempted. Prognosis for congestive cardiomyopathy is very poor. The average survival time after onset of signs is 6-12 months; 1 dog in our study survived for 20 months. In contrast to congestive cardiomyopathy, the hypertrophic form is rare in the dog. Only two of the dogs studied had hypertrophic cardiomyopathy; one case was diagnosed at necropsy and one by angiocardiography. Both had features of idiopathic hypertrophic subaortic stenosis (IHSS) as reported in man.
 ...
PMID:Cardiomyopathy in the dog. 12 94

Mucopolysaccharidosis V (Scheie's syndrome, MPS-IS) is a very rare, autosomal recessively inherited metabolic disease. The degradation of dermatan sulphate and heparan sulphate is disturbed due to alpha-L-iduronidase deficiency, leading to intracellular storage and excessive urinary secretion of these substances. The characteristic clinical features are contractures (claw-like flexion of the fingers), umbilical and inguinal herniae, corneal opacity, hepatomegaly, myocardiopathy and minor skeletal malformations. A patient with Scheie's syndrome is now reported for the first time in Austria; the results of the clinical, biochemical, chromosomal, dermatoglyphic and electron optical investigations are described and discussed.
 ...
PMID:[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]. 15 10

This report deals with two sisters who died with eight, respectively ten weeks under the signs of respiratory failure caused by progressive muscular weakness. Only an elevated cerebrospinal fluid protein was suspicious of an additional disturbance of the central nervous system. Muscle biopsy revealed a vacuolar myopathy. Histochemistry showed lipid storage, increased mitochondrial enzyme activity, and to a lower degree, glycogen accumulation especially in type I muscle fibers. Electron microscopy confirmed elevated lipid content in combination with increased, enlarged and abnormally structured mitochondria. Biochemical studies on muscle biopsy, in comparison with normal children, showed a significant decrease of carnitine content and an increased activity of carnitine palmityltransferase. Retrospectively from a clinical point of view this disease is suggestive of "systemic carnitine deficiency", even if some symptoms (hepatomegaly, cardiomyopathy) were not present and serum- and liver carnitine was not measured because the children died before the diagnosis of muscle carnitine deficiency was confirmed. The clinical picture of these two fatal cases is compared with another observation of muscle caritine deficiency. This child shows only a mild course of muscle disorder, but very similar morphological changes in muscle biopsy. Biochemically, there was a clear decrease in muscular carnitine, while the serum levels were in the normal range. The activity of muscular carnitine palmityltransferase was also normal.
 ...
PMID:[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)]. 50 58

Idiopathic hemochromatosis (iH) is typically a disease of older males. The case presented here describes a 26-yr-old woman with problems presenting heart failure, insulin-dependent diabetes, hepatomegaly, and secondary amenorrhea. The diagnosis was established by serum iron and transferrin saturation measurements, liver biopsy, and bone marrow examination for iron. Twenty grams of iron were removed by phlebotomy over 30 mo, and the patient's symptoms improved. A review of the literature pertinent to people with symptomatic onset of IH before age 30 yr revealed 52 young people in addition to this case. In contrast to IH patients older than 30, there was an almost equal ratio between the sexes, a greater frequency of cardiomyopathy and hypogonadism, and a lower frequency of diabetes mellitus and hepatic involvement. An autosomal recessive mode of inheritance appears to be most likely in this young group.
 ...
PMID:Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. 75 39

Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria. The boy died at the age of 7 weeks. In the second case hypotonia, severe cardiomyopathy, cyclic neutropenia, lactic acidosis and 3-methylglutaconic aciduria occurred. The boy died at the age of 27 months. The third case presented at the age of 16 months as an acute hypokinetic hypertrophic cardiomyopathy with transient hypotonia and mild lactic acidosis. Spontaneous clinical remission occurred. In all cases muscle biopsy was performed. Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. Biochemical studies confirmed the cytochrome c oxidase deficiency in muscle in all cases. It was associated with complex I III deficiency in case 1 and with severe deficits of all respiratory chain complexes in case 2. Post-mortem studies in case 1 indicated that complex IV was reduced in the liver but not in the heart and quantitative analysis of mtDNA revealed a depletion in muscle. Cases 1 and 2 shared some clinical features with fatal infantile myopathy associated with cytochrome c oxidase deficiency, while case 3 displayed a very unusual clinical presentation. The histochemical enzyme reaction of cytochrome c oxidase is useful for the diagnosis of mitochondrial myopathy because ragged-red fibers may be lacking. Finally, biochemical measurement of the different mitochondrial respiratory chain complexes is required because multiple defects are frequent and occasionally related to mtDNA depletion.
 ...
PMID:Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. 132 Jun 61

By the end of 1990, 51 symptomatic children with perinatally acquired HIV infection had been admitted to Baragwanath Hospital. Of 42 children who were followed up for at least 3 months, 15 (35.7%) died and 16 (38.1%) were lost to follow-up. The case fatality rate for these children lies between 35.7% and 73.8%. Most children became symptomatic before the age of 6 months and presenting features seen in over 70% of cases included lymphadenopathy, failure to thrive and hepatomegaly. Surviving children had recurrent admissions to hospital, predominantly for respiratory distress. Many had bacterial pneumonias. Cardiac involvement (cardiomyopathy and cor pulmonale), recurrent serious bacterial infections and neurodevelopmental abnormalities were common. Our experience confirms that vertically acquired HIV infection has a relatively short incubation period and progresses rapidly with cardiorespiratory symptoms predominating. Five HIV seroprevalence studies have been conducted in pregnant women attending Baragwanath Hospital and the Soweto clinics since 1988. The calculated doubling time is between 7 and 21 months. At the end of 1990 the HIV seroprevalence rate in pregnant women was 0.82% (95% confidence limits 0.44-1.19%).
 ...
PMID:AIDS--the Baragwanath experience. Part II. HIV infection in pregnancy and childhood. 150 37

In this article, the clinical and epidemiological characteristics of 137 children with cardiomyopathy admitted to the Hacettepe Pediatric Cardiology Unit were studied and the prognosis was evaluated after a follow-up period of 24 +/- 5 months. It was found that the highest proportion of patients were residents of Ankara, followed by the Northern and the Central Anatolian regions, and consanguinity between their parents was more common than the proportion for Turkey as a whole. Most of the patients had dilated cardiomyopathy (78.9%) and the age at which symptoms appeared varied according to the type of cardiomyopathy. A high proportion of patients came to the hospital with complaints of dyspnea and a decrease in effort capacity. The most common findings on the physical examination were hepatomegaly and tachycardia. Electrocardiographic and echocardiographic evaluations were made for all patients and cardiac catheterization and endomyocardial biopsy were performed when necessary. The outcome was as follows: 34.5% improved, 45.7% remained stable, 9.5% deteriorated and 10.3% died.
 ...
PMID:Cardiomyopathies in children. Clinical, epidemiological and prognostic evaluation. 208 76

In this retrospective study from five centres, 139 patients over 10 years of age with glycogen storage disease types I, III, VI and IX are described. Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycogen storage disease type III improve. However, there was a high incidence of myopathy and cardiomyopathy. Patients with glycogen storage disease types VI and IX had a normal growth pattern after childhood. Hepatomegaly and hypercholesterolaemia, however, were still present in half of the patients.
 ...
PMID:The long-term outcome of patients with glycogen storage diseases. 212 9

Most inborn errors of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, vomiting, comas, hypertonia, abnormal movements and frequent humoral disturbances (organic acidaemias, congenital urea cycle defects); (2) those which lead to a neurological distress 'energy deficiency' type. Frequent symptoms in this group include hyperlactacidaemia, severe hypotonia, cardiomyopathy, failure to thrive and malformations (congenital lactic acidaemias, fatty acid oxidation defects, peroxysomal disorders); (3) those which present evidence of liver dysfunction and hepatomegaly (glycogenesis, neoglucogenesis defects, galactosaemia, fructosaemia, tyrosinaemia type I). According to these three major clinical presentations and according to the proper use of few screening tests (blood gases, glucose, ammonia, lactic acid, electrolytes, acetest), we propose a method of diagnosis which groups these children into five schematical syndromes: type I MSUD; type II organic acidaemias; type III; congenital lactic acidosis; type IVa, urea cycle defects; type IVb, non-ketotic hyperglycinaemia, sulfite oxidase deficiency, peroxisomal disorders; type V liver dysfunctions. Once the above classification has been made, sophisticated and specific investigations can be planned (amino acid chromatography, organic acid chromatography, enzymatic studies, etc).
 ...
PMID:Clinical approach to inherited metabolic disorders in neonates. 226 19

Pathological findings from 389 SimmentalxRed Holstein cattle and from 11 Holstein/Friesian cattle with cardiomyopathy (CMP) are described. The average age of affected animals was 34 months; the majority of cases was observed between October and March. The hallmark of the disease was cardiomegaly with ventricular and atrial dilation and hypertrophy, as well as myocardial fibrosis, in part accompanied by myofibrillar degeneration. Striking vascular changes within lung vessels were hypertrophy of arteriolar and venular walls together with luminal stenosis of veins. Marked hepatomegaly was induced by chronic liver congestion with hepatocyte degeneration and fibrosis. Many cases showed chronic, interstitial nephritis. CMP affected crossbred cattle only, which suggests a genetic factor influencing the pathogenesis of this disease by possibly interfering with biochemical and metabolic pathways leading to endothelial damage and extracellular matrix alterations.
 ...
PMID:[Pathology of bovine cardiomyopathy]. 234 88


1 2 3 4 5 6 7 8 9 10 Next >>