Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers, aged 40 and 38 years, suffered from dysplastic features, coarse facies, bone and skeletal abnormalities, deformities of spine, and joint impairments. Body heights were 168 and 164 cm, respectively. Enlargement of liver and spleen, cardiac insufficiency, marked corneal clouding, and hernias were absent. Both patients had signs of cervical and lumbar radiculopathy and cervical myelopathy (tetraspastic syndrome). Vacuoles, acid phosphatase-positive granules, and metachromatic inclusions were found in peripheral lymphocytes; granulocytes and monocytes contained azurophilic hypergranulation. By electron microscopy, clear membrane-bound vacuoles were noted in lymphocytes (but not in neurtrophils), fibroblasts, Schwann cells, mural cells of the vasculature, and epidermal cells. Leukocytes, urine, and cultured skin fibroblasts revealed a deficiency of arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase). The 6-year-old daughter of one of the patients has an intermediate level of this enzyme. Fibroblasts exhibited a constant intracellular accumulation of 35S-labeled mucopolysaccharides. The urine of one of the brothers showed an abnormal mucopolysacchariduria; in both, the presence of urinary dermatan sulfate could be demonstrated. These findings conform to the mild B variant of Maroteaux-Lamy syndrome with high longevity.
 ...
PMID:Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B). 12 48

Of a total sixtytwo patients covering all the spectrum of genetic ASH, who were studied by heart catheterization, M-mode echocardiography and phonomechano cardiography, five patients (four with the obstructive variety of the disease) showed clinical evidence of chronic congestive heart failure with ankle edema and hepatomegaly (group I). Their data were compared with those of fifteen "obstructed" patients who were not in heart decompensation (group II). No statistically significant differences were found between groups I and II in terms of L.V. internal transverse dimensions and in terms of L.V. systolic function. Conversely a statistically significant difference was found between the two groups in terms of left atrial and right ventricular dimensions (P less than 0,001), which were markedly increased in groups I. These findings strongly suggest that in patients with ASH and congestive heart failure there is a reduction in L.V. compliance (or distensibility), whereas L.V. systolic function is essentially preserved. The persistence of severe L.V. outflow obstruction in four patients of I group gives further confirmation to these observations. The use of beta-blockers (in association or not with cardiac glycosides) seems therefore to preserve its validity in the treatment of patients with ASH and heart failure, particulary when severe L.V. outflow obstruction is present. Cardiac glycosides are indicated in the forms with little or no obstruction to L.V. ejection.
 ...
PMID:[Congestive heart failure in genetic hypertrophic cardiomyopathies (ASH) (author's transl)]. 16 Mar 52

Six infants with either cavernous hemangiomas or hemangioendotheliomas of the liver are described. Typical clinical features include cardiac failure, hepatomegaly, and cutaneous hamangiomas. Prompt recognition will direct management to prevent lethal complications of cardiac failure, hyperconsumptive coagulopathy, and hepatic rupture. Dynamic and static hepatic scintigraphy will demonstrate the vascularity and size of the liver mass and provide distinction from other tumors, although in certain circumstances angiography is required.
 ...
PMID:Hepatic cavernous hemangiomas and hemangioendotheliomas in infancy. 40 70

A German Shepherd Dog was examined because of ascites and hepatomegaly. The finding of proteinaceous ascitic fluid and hepatic histologic features of centrizonal sinusoidal congestion suggested hepatic venous outflow obstruction. Diagnostic tests eliminated heart failure from the differential diagnosis and thus indicated an obstruction between the right atrium and hepatic sinusoids. Vascular manometry and angiography established the site of the lesion in the right atrium and confirmed portal vein hypertension. Surgical exploration revealed an unresectable right atrial tumor occluding the caudal vena cava.
 ...
PMID:Portal hypertension secondary to a right atrial tumor in a dog. 71 96

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

Each of 12 types of glycogen storage disease (GSD O-XI) is delineated by clinical, biochemical and histologic features that allow its identification in future patients. GSD II occurs in 2 forms that are not both encountered in the same family. GSD IIa is the infantile fatal form with cardiomegaly, increased cardiac glycogen concentration and cardiac failure; GSD IIb is the adult form with clinically normal heart and normal cardiac glycogen concentration. Nonetheless, the heart muscle of both forms is equally deficient in acid alpha-glucosidase activity, and this raises questions as to the latter's role in the pathophysiology of GSD II. The appearance of hepatocytes in GSD IIa becomes normal after the administration of alpha-glucosidase. Using electron microscopy of uncultured amniotic fluid cells, the prenatal diagnosis of GSD IIa is feasible within one day after the amniocentesis. GSD VI and IX are instances of benign hepatomegaly except when GSD IX and III occur in the same child; one such patient died suddenly at home. There are 2 modes of inheritance in GSD IX: one (GSD IXa) is autosomal recessive, the other one (GSD IXb) is X-linked recessive. In either form the Km of the remaining liver phosphorylase kinase is normal. Both forms of GSD IX have the normal blood sugar response to glucagon, whereas GSD VI does not. Equally, the glucagon tolerance curve is flat in GSD XI although in vitro activity of glycolytic enzymes is normal. The in vivo administration of glucagon in GSD XI is followed by the normal increase of both urinary 3'5'-AMP and hepatic phosphorylase activity. GSD V may have increased activity of muscle phosphorylase kinase. Deficiencies of debrancher, liver phosphorylase and liver phosphorylase kinase can occur singly or in combination. Before any novel treatment of GSD is initiated, one should obtain tissue for the biochemical determination of the exact type of GSD. This is so because the clinical signs may not indicate the type with the necessary precision, and because some types are compatible with normal life and thus may not require therapy, especially if the latter is unproved and potentially dangerous.
 ...
PMID:Glycogen storage diseases. 78 7

Sixteen cases of chronic Q fever are described. In eight there was a history of exposure to infection from farms or farm products. All had valvular heart disease, involving the mitral valve in nine and the aortic valve in seven. Infection occurred on a prosthetic valve in two patients. Arterial embolism was common. Venous thrombosis occured in three patients, and pulmonary embolism occurred in three other patients. Complement fixing antibodies to phase 1 antigen were found in a titre of 1:200 or greater in all except two patients. In one of these post-mortem examination revealed rickettsial bodies in mitral valve vegetations, and in the other Coxiella burneti was isolated from heart valve tissue. The majority presented with infective endocarditis but two presented primarily with liver disease. All patients had evidence of liver involvement and in one this led to death from cirrhosis. Abnormal tests of liver function, particularly hyperglobulinaemia, raised alkaline phsophatase and abnormal bromsulphthalein retention were found in all patients. Hepatic histology was abnormal in all eight patients in whom it was studied. The commonest features were mononuclear cell infiltration of the portal tracts and prominence of the sinusoidal Kupffer cells. Patchy focal necrosis of parenchymal cells, granulomata, fatty change, and eosinophilia of the sinusoidal walls were also noted in several patients and cirrhosis developed in one. Six patients had a purpuric rash, and in 12 there was thrombocytopenia. It is suggested that the presence of hepatomegaly and liver involvement and thrombocytopenia may help to differentiate Q fever endocarditis from bacterial endocarditis. Raised serum IgM and IgA levels occured frequently, but with only a moderate dominance of IgM. Sheep cell agglutination and latex fixation tests for rheumatoid factor were occasionally positive. Several features of the disease suggest the possibility that immune-complex mechanisms may play a role in chronic Q fever. Treatment was with prolonged courses of tetracycline usually combined with lincomycin. Seven patients underwent valve replacement surgery for haemodynamic reasons. Five patients died; two from heart failure, one from cirrhosis, one seven days after valve replacement and one from intraperitoneal haemorrhage following percutaneous liver biopsy. Three patients have survived for more than five years, and another six for more than three and a half years after diagnosis. Of these nine patients, three received medical therapy alone and six required valve replacement as well. Antibiotics have been discontinued in four patients who have had valve surgery and three others. Six patients had received antibiotics for continuous periods varying from 29-62 months. In the period after stopping therapy varying from 15-21 months, no relapse has occured. A seventh patient, who had received antibiotics for four months prior to valve replacement, has survived 43 months after the withdrawal of antibiotics...
 ...
PMID:Chronic Q fever. 94 Sep 18

A follow-up study was made of 29 patients aged 21 to 45 years, some 15-158 months after acute myopericarditis. The mean follow-up period was 72.9 months. The follow-up investigation included recording of history, physical examination, laboratory tests, radiologic examination of the heart and lungs and electrocardiography. All but one of the patients were fit for fulltime work. Nine had residual cardiac symptoms, but the physical examination was negative in all but 2 of them. One patient had chronic cardiac insufficiency and hepatic enlargement. Another had sinus tachycardia and cardiac enlargement of moderate degree and impaired working capacity in relation to heart size. Cardiac murmurs without clinical significance were audible in three cases. The resting ECG was pathologic in only 6 cases. Orthostatic ECG evoked ECG abnormalities in 6 more cases. Exercise tolerance tests showed reduced working capacity in relation to heart volume in 5 of the 29 cases (17%). Four of these 5 patients had cardiac enlargement. There was thus good correlation between increase in heart volume and reduction of physical capacity. The prognosis in regard to cardiac function was good, as was also found in other comparable series in which the observation time was somewhat shorter.
 ...
PMID:Acute myopericarditis. A long-term follow-up study. 101 66

Seven patients with hemangiomatosis of the liver are presented together with 100 cases reported in the literature. Six of seven patients survived; four with supportive treatment only. Follow-up is from 2 to 11 yr. Hepatomegaly, heart failure, and cutaneous angiomas constitute the classical clinical triad. Arteriography is the best method for diagnosis; biopsy should be avoided. Clinical features and histologic examination of these benign vascular tumors seem to confirm the theory that hemangioendothelioma and hemangioma represent only different developmental stages of one disease. These lesions can regress spontaneously if left alone. Despite contrary prevailing opinion, the authors recommend nonoperative treatment as the first choice of the clinician.
 ...
PMID:Hemangiomatosis of the liver in infants. 111 83

The authors present 7 patients with hemangiomatosis of the liver together with about 100 cases reported in the literature. 6 of 7 patients survived; 4 with supportive treatment only. Follow-up is from 2 to 12 years. Hepatomegaly, heart failure and cutaneous angiomas constitute the classical clinical triad. Arteriography is the best method to diagnose this lesion, and biopsy can thus be avoided. Clinical features and histological examination of these benign vascular tumors seem to confirm the theory that hemangioendothelioma and hemangioma represent only two different developmental stages of one disease. These lesions can regress spontaneously if left alone. Despite contrary prevailing opinion the conservative treatment is recommended as the first choice of the clinician.
 ...
PMID:[Hemangiomatosis of the liver in infants: Diagnosis and treatment]. 115 Apr 80


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