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

In its simplest and most succinct definition, heart failure can be defined as an inability of the heart to meet the metabolic demands of the body. Despite the diverse etiologies of heart failure in the pediatric population, the presentation of heart failure represents a common constellation of symptoms, signs, and physical findings. In infants, an inability to maintain growth either secondary to decreased nutritional intake or an increased catabolic state is a hallmark of heart failure. Infants exhibit increased sympathetic tone with excessive diaphoresis and increased heart rate. Physical findings in the infants with congestive heart failure (CHF) include increased work of breathing, tachypnea and hepatomegaly. In older children, in contrast, new onset heart failure may be less overtly symptomatic. Malaise, decrease in the level of daily activity, and weight loss may be present. Symptoms of abdominal pain and nausea and anorexia can be present and sometimes divert attention from the real etiology. Physical findings include rales and peripheral edema. If there is hepatomegaly, there will likely be hepatic tenderness as well. A gallop rhythm and tachycardia are commonly present. The long-term treatment of CHF in children includes digoxin, diuretics and afterload reduction with angiotensin-converting enzyme (ACE) inhibitors. Digoxin decreases sympathetic tone and improves growth in infants. Diuretics should be used to relieve symptoms but may not be necessary in all children. ACE inhibitors are increasingly valuable in maintaining cardiac function long term. New uses of medications include the addition of spironalactone (Aldactone, G. D. Searle & Co., Chicago, IL) which, in adults, has been shown to significantly decrease both the death rate from CHF and the need for hospitalization. Beta-Blockers have been used in children in limited studies and may have a role in the treatment of patients with idiopathic dilated cardiomyopathy. Surgical treatment, such as partial vectriculectomy, has shown short-term benefit and has been used sparingly in infants.
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PMID:Treatment of heart failure in infants and children. 1172 82

Pleuropulmonary amebiasis is the common and pericardial amebiasis the rare form of thoracic amebiasis. Low socioeconomic conditions, malnutrition, chronic alcoholism, and ASD with left to right shunt are contributing factors to the development of pulmonary amebiasis. Although no age is exempt, it commonly occurs in patients aged 20 to 40 years, with an adult male to female ratio of 10:1. Children rarely develop thoracic amebiasis: when it does occur there is an equal sex distribution. The infection usually spreads to the lungs by extension of an amebic liver abscess. Infection may pass to the thorax directly from the primary intestinal lesion through hematogenous spread, however. Lymphatic spread is one possible route. Inhalation of dust containing cysts and aspiration of cysts or trophozoites of E histolytica in the lungs are some other hypothetical routes. The lung is the second most common extraintestinal site of amebic involvement after the liver. Usually the lower lobe, and sometimes the middle lobe of the right lung, are affected, but it may affect any lobe of the lungs. The patient develops fever and right upper quadrant pain that is referred to the tip of the right shoulder or in between the scapula. Hemophtysis is common. The diagnosis of thoracic amebiasis is suggested by the combination of an elevated hemidiaphragm (usually right), hepatomegaly, pleural effusion, and involvement of the right lung base in the form of haziness and obliteration of costophrenic and costodiaphragmatic angles. Infection is usually extended to the thorax by perforation of a hepatic abscess through the diaphragm and across an obliterated pleural space, producing pulmonary consolidation, abscesses, or broncho-hepatic fistula. Empyema develops when a liver abscess ruptures into the pleural space. Rarely, a posterior amebic liver abscess can burst into the inferior vena cava and develop an embolism of the inferior vena cava and thromboembolic disease of the lungs with congestive cardiac failure or corpulmonale. Diagnosis by finding E histolytica in stool specimens is of limited value. In a limited number of cases amebae might be found in aspirated pus or expectorated sputum. "Anchovy sauce-like" pus or sputum may be found. Presence of bile in sputum indicates that the pus is of liver origin. Serological tests are of immense value in diagnosis. Liver enzymes are usually normal and neutrophilic leucocytosis may or may not be found. ESR is invariably elevated. Anti-amebic antibodies can be detected by ELISA, IFAT, and IHA. Amebic antigen can be detected from serum and pus by ELISA. Detection of Entamoeba DNA in pus or sputum may be a sensitive and specific method. Pleuropulmonary amebiasis is easily confused with other illnesses and is treated as pulmonary TB, bacterial lung abscesses, and carcinoma of the lung. A single drug regimen with metronidazole with supportive therapy usually cures patients without residual anomalies. Aspiration of pus from empyema thoracis may be needed for confirmation and therapeutic purposes. The pericardium is usually involved by direct extension from the amebic abscess of the left lobe of the liver, sometimes from the right lobe of the liver, and rarely from the lungs or pleura. An initial accumulation of serous fluid due to reactive pericarditis followed by intrapericardial rupture may develop either (1) acute onset of severe symptoms with chest pain, dyspnea, and cardiac tamponade, shock, and death, or (2) progressive effusion with thoracic cage pain, progressive dyspnea, and fever. Chest radiograph, ultrasound examination, and CT scan usually confirm the presence of a liver abscess in continuity with the pericardium and fluid within the pericardial sac with or without the fistulous tract. Echocardiography may demonstrate fluid in the pericardial cavity. Patients should be cared for in the ICU and ambecides should be started without delay. Pericardiocentesis usually confirms the diagnosis and improves the general condition of the patient. Aspiration of the accumulated fluid should be performed urgently in cardiac tamponade; repeated aspiration may be needed. Surgical drainage should be done if needed. Acanthamoeba, a free-living ameba, may also infect the lungs in the form of pulmonary nodular infiltration and pulmonary edema in association with amebic meningoencephalitis in immunocompromised patients. It usually spreads to the meninges of the brain by way of the blood from its primary lesion in the lung or skin. Early diagnosis and institution of treatment may be life saving for these patients. A literature review shows that HIV/AIDS patients are not prone to infection with E histolytica. It is now clear that there are an increasing number of HIV-seropositive patients among amebic liver abscess patients, however, which suggests that although the incidence of intestinal infection is not high among HIV-seropositive or AIDS patients they are more susceptible to an invasive form of the disease.
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PMID:Thoracic amebiasis. 1209 41

60 cases of endotoxic shock in obstetrics and gynecology in a 7 year period, January 1974 to December 1980 in Nigeria are reviewed. The most common and causative conditions were septic abortion, puerperal sepsis and pyelonephritis in pregnancy. The commonest cultured organism was Eschericha Coli. There were 33 deaths, giving a mortality rate of 55%, which falls within the range reported in the literature. The mortality rate in the institution where this study was conducted has shown a downward trend. Early surgery is advocated in those cases with infected retained products of conception and pyoperitoneum, and more liberal use of steroids, hypertonic glucose solution and digoxin, especially in patients with cardiac decompensation. The patients of the sample met the following criteria: 1) the occurrence of hypotension with consistent reading of 80/50 mm Hg or less; 2) demonstrable evidence of infection as determined by fever, hematological and bacteriological studies; and 3) the presence of persistent tachycardia. Conditions related to pregnancy accounted for 50% of of all cases. A significant finding was that 14 out of 18 patients with induced abortion had it at 2 weeks before admission. A majority of the patients in this study had subnormal temperature. The presence of jaundice, pneumonia, persistent oliguria and hepatomegaly are ominous signs accompanied by high mortality. Pulmonary factors in shock are important in determining patient survival as well as lung functions afterwards. The mortality in endotoxic shock remains high despite widespread use of fluids, antibiotic and steroid therapy, indicating that eliminating bacteria and restoring blood pressure are not the only considerations in treating shock. Insufficient nutrition may contribute to cardiorespiratory deterioration in the acutely ill patient; important physiological variables are improved by administration of hypertonic glucose solution, which leads to increased clearance of E. Coli from the blood.
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PMID:Contribution of endotoxic shock to gynaecological and maternal morbidity and mortality. 1226 57

We report clinical and genetic characteristics of seven juvenile hemochromatosis (JH) patients (six females, one male) in two unrelated kinships from the southeastern U.S. All had severe iron overload. Mean age at diagnosis was 20 +/- 5 years (range 8-23 years). In six patients, the mean age at onset of signs and symptoms attributable to iron overload was 15 +/- 2 years (12-18 years); an 8-year-old girl had no symptoms. Six of the seven patients had hypogonadotrophic hypogonadism, two had severe cardiomyopathy, seven had hepatomegaly, two had hepatic cirrhosis, and five had hyperpigmentation. Two of four siblings with JH also had Hashimoto thyroiditis. One patient with severe cardiomyopathy improved with therapeutic phlebotomy, medical therapy for congestive heart failure, and a permanent pacemaker; the other died before phlebotomy was initiated. Estimates of average daily iron absorption before phlebotomy-induced iron depletion were 2.3, 3.1, and 1.7 mg in a male and two females, respectively. Both parents of four siblings with JH were heterozygous at two Ch1q loci (D1S1156, D1S2344); each of the four affected siblings was homozygous at both loci. An unaffected sib was heterozygous at D1S1156. One patient was heterozygous for HFE H63D, five others did not have HFE C282Y or H63D, and one was unavailable for testing. We conclude that JH occurs in the southeastern U.S. It is likely that JH allele(s) in at least one of the present kinships occur(s) on Ch1q, and presumably this represents a mutation(s) of the same gene localized to Ch1q in Italian and Greek JH kindreds. The present cases do not have HFE genotypes typical of hemochromatosis diagnosed in adults. Hashimoto thyroiditis, linked to Ch6p in many kinships, did not segregate with JH alleles on Ch1q in the present kinship.
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PMID:Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. 1248 11

A 45-day-old patient was admitted with dyspnea, hepatomegaly, tachycardia, holosystolic murmur in the precordial region, and continuous murmur at the right hypochondrium. Four cutaneous angiomas were noted. Instrumental examinations revealed congestive heart failure and multiple focal lesions in the liver with typical features of hemangiomas. The therapy with subcutaneous interferon-alfa-2a (IFN-alpha) was administered for 12 months with progressive regression of cutaneous hemangiomas, liver lesions, and cardiological alterations. IFN-alpha therapy was effective without any significant adverse effects.
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PMID:Recombinant interferon alfa 2a in hepatic hemangiomatosis with congestive heart failure: a case report. 1255 28

A 59-year-old man underwent closed mitral commissurotomy for mitral stenosis at the age of 19 years, and mitral valve replacement (MVR) with a Hancock standard bioprosthesis and tricuspid annuloplasty at the age of 40 years. Two years after the second operation, the patient developed human T-lymphotropic virus type-1 infection, manifesting as myelopathy/tropical spastic paraparesis, and has required steroid therapy for 17 years. He was well for 18 years after the MVR, but has recently developed severe congestive heart failure, orthopnea and enlarged liver. Doppler echocardiography showed severe transvalvular regurgitation of the prosthesis and tricuspid valve. The patient underwent re-MVR with a 27 mm St. Jude Medical prosthesis, and tricuspid annuloplasty. The surgery was well tolerated, without any significant infectious complication. Some tears and perforations were found in the leaflets of the explanted bioprosthesis, but soft X-ray analysis showed minimal calcification. Mild changes and longer durability of the bioprosthesis may be related to the long-term use of steroid therapy.
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PMID:Mitral valve re-replacement for impaired bioprosthesis after 19 years in a patient undergoing steroid treatment. 1257 34

Hepatic hemangioendothelioma (HE) is a tumor that presents in infancy and toddler. It manifests hepatomegaly, abdominal mass, jaundice, abdominal distention, or high output cardiac failure. We reviewed patients with HE in our hospital in the past 15 years (from July 1986 to June 2001). The diagnosis was made by the histology specimen or various imaging studies. There were thirteen patients (9 males, 4 females) enrolled in our study. Their ages ranged from neonate to 2 years old. The common clinical manifestations included abdominal distention (53%), congestive heart failure (38.5%), abdominal mass (30.8%), jaundice (30.8%), and skin hemangioma (23.1%). Nine patients had serum alanine aminotransferase examination and were abnormal in 2. Anemia was noted in 7 of 13 (53.8%) patients, thrombocytopenia and hyperconsumptive coagulopathy were found in 4 and 5 patients, respectively. Serum alpha-fetoprotein was elevated in 4 of 7 patients. Abdominal ultrasonography (n = 13) showed heterogeneous and hypoechoic lesions in the liver. Computed tomography (n = 11) revealed central hypointensity with peripheral enhancement after contrast of the liver masses. Magnetic resonance imaging studies of the hepatic masses (n = 3) showed decreased signal intensity on T1 images and high signal intensity on T2. Most patients were treated with steroid. Other management included interferon, chemotherapy, embolization and/or surgery. Four patients were managed conservatively. Among the other nine patients, four patients died of sepsis, hepatic failure, disseminated intravascular coagulopathy or tumor rupture with hemorrhagic shock. HE appears to be a histologically benign tumor but may have a poor outcome because of complications. For its management, steroid is a first-line medication. Other methods of treatment were interferon, hepatic artery embolization, chemotherapy and surgery. Long term follow up is needed for the evaluation of treatment response.
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PMID:Hepatic hemangioendothelioma in children: analysis of thirteen cases. 1280 Mar 77

The liver is a common site of amyloid deposition in primary systemic amyloidosis. We reviewed the clinical features and natural history of patients with primary systemic amyloidosis and biopsy-proven hepatic involvement who were evaluated at Mayo Clinic from January 1, 1975, to December 31, 1997. The median age of the study group (68 men; 30 women) was 58.5 years. Seventy-one patients (72%) had involuntary weight loss. Hepatomegaly was found in 79 patients (81%). Eighty-two patients (89%) had proteinuria, and 81 patients (86%) had elevated serum alkaline phosphatase levels. Seventy-six patients (83%) had either a serum or urine monoclonal protein. Before liver biopsy, clinicians considered amyloidosis in the differential diagnosis for only 14 patients (26%). None of our patients experienced hepatic rupture or death due to liver biopsy, and only 4 (4%) bled after liver biopsy. The median survival of the 98 patients was 8.5 months. Predictors of a poor prognosis were congestive heart failure, elevated concentrations of bilirubin, and a platelet count greater than 500 x 109/L. In conclusion, clinicians should consider the diagnosis of primary hepatic amyloidosis in patients who present with involuntary weight loss or hepatomegaly. Other clues to the diagnosis include an unexplained elevated serum alkaline phosphatase level, proteinuria, and evidence for hyposplenism (for example, Howell-Jolly bodies on peripheral blood smear). Liver biopsy was safe. Some patients benefit from systemic chemotherapy.
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PMID:Primary (AL) hepatic amyloidosis: clinical features and natural history in 98 patients. 1453 Jul 78

Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52 years (median 2.1 years) were retrospectively analysed. All except four of the patients (95%) had a prenatal onset growth failure without postnatal catch up growth. The mean length standard deviation score (SDS) was -3.1 and -4.0 at birth and at diagnosis, respectively. In infancy, feeding difficulties, and respiratory tract infections were the most common problems. Congestive heart failure and pericardial constriction were diagnosed during infancy in 12% and 6% of the patients, respectively. At the time of the diagnosis, characteristic craniofacial features of scaphocephaly, facial triangularity, high and broad forehead, and low nasal bridge were evident in over 90% of the patients. In addition, practically all patients were gracile and had thin extremities. Other findings included a peculiar high-pitched voice (96%), yellowish dots in ocular fundi (79%), cutaneous naevi flammei (65%), hepatomegaly (45%), and fibrous dysplasia of long bones (25%). Mild muscular hypotonicity (68%) was the only neurological abnormality. The clinical features of the Finnish patients with MUL formed a distinct entity. The most consistent findings were growth failure and characteristic craniofacial features. However, organ manifestations varied considerably in early childhood. Based on these findings, we propose new diagnostic criteria for MUL.
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PMID:Mulibrey nanism: clinical features and diagnostic criteria. 1475 54

Hyperinsulism is a rare cause of persistent hypoglycemia in the neonatal period. Therapy can be accomplished either surgically or pharmacologically. Diazoxide treatment remains the mainstay of medical therapy. Tolerance of diazoxide is usually excellent, but several adverse effects of this drug have been described. A case of severe diazoxide intoxication with fluid retention, congestive heart failure, and respiratory failure is reported. The patient was a 43-day-old infant, affected by persistent and severe hypoglycemia. After the diagnosis, hyperinsulinism was established he was treated with diazoxide (17 mg x kg(-1) daily) and octreotide (12 microg x kg(-1) daily). A few days later he presented with hepatomegaly, severe fluid retention, diffuse edema, congestive heart failure, and respiratory failure requiring mechanical ventilation. After introduction of ACE inhibitors he developed acute renal failure. The clinical condition worsened and he developed pulmonary hypertension requiring high-frequency oscillatory ventilation. Diazoxide was stopped on the 12th day in spite of poor control of blood sugar. During the next 5 days his hemodynamic status dramatically improved and he was weaned from catecholamines: he lost weight, had a negative fluid balance, and the edema disappeared, a normal diuresis resumed and renal function improved. Improvement of respiratory patterns and gas exchange made it possible to switch back to conventional ventilation and then to extubate the patient. Echocardiography demonstrated reduction of the PA pressure to normal and resolution of atrial enlargement. The patient was scheduled for elective subtotal pancreatectomy. Diagnosis and management of diazoxide intoxication are discussed.
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PMID:A case of severe diazoxide toxicity. 1520 Jun 61


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