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)

Amyloidoses are a heterogeneous group of multisystem disorders, which are characterized by an extracellular deposition of amyloid fibrils. Typically affected are the heart, liver, kidneys, and nervous system. More than half of the patients die due to cardiac involvement. Clinical signs of cardiac amyloidosis are edema of the lower limbs, hepatomegaly, ascites and elevated jugular vein pressure, frequently in combination with dyspnea. There can also be chest pain, probably due to microvessel disease. Dysfunction of the autonomous nervous system or arrhythmias may cause low blood pressure, dizziness, or recurrent syncope. The AL amyloidosis caused by the deposition of immunoglobulin light chains is the most common form. It can be performed by monoclonal gammopathy. The desirable treatment therapy consists of high-dose melphalan therapy twice followed by autologous stem cell transplantation. Due to the high peritransplantation mortality, selection of appropriate patients is mandatory. The ATTR amyloidosis is an autosomal dominant disorder caused by the amyloidogenic form of transthyretin, a plasmaprotein that is synthesized in the liver. Therefore, liver transplantation is the only curative therapy. The symptomatic treatment of cardiac amyloidosis is based on the current guidelines for chronic heart failure according to the patient's New York Heart Association (NYHA) state. Further types of amyloidosis with possible cardiac involvement comprise the senile systemic amyloidosis caused by the wild-type transthyretin, secondary amyloidosis after chronic systemic inflammation, and the beta(2)-microglobulin amyloidosis after long-term dialysis treatment.
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PMID:[Cardiac amyloidosis]. 1834 65

Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.
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PMID:Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? 1843 26

Symptoms of pulmonary hypertension (PH) are very nonspecific. Therefore, the mean time from symptom onset to diagnosis is about two years. Dyspnea is the most common symptom of PH. In particular, progressive dyspnea on exertion is most frequently observed as the initial symptom and seen among almost all patients at the time of diagnosis. Physical findings are often normal in early stages. The most common sign is an accentuated pulmonic component to the second heart sound. In more advanced cases, there are signs of right heart failure such as jugular venous distension, hepatomegaly and peripheral edema. Transthoracic Doppler echocardiography is the best screening test to detect PH. Right heart catheterization is required to confirm the diagnosis of PH. However, additional examinations are performed to rule out known causes of PH.
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PMID:[Differential diagnosis of pulmonary hypertension]. 1905 31

Tumors involving the heart are rare, and the majority of them are benign. Secondary lymphoma with localization to the heart is the third most common malignant heart tumor and is more common, by far, than primary cardiac lymphomas. In patients with human immunodeficiency virus, the risk of development of systemic lymphoma is 60 to 200 times higher than in the general population. Symptoms usually consist of chest pain and dyspnea. Patients can also present with obstructive symptoms, based on the location and size of the tumor, and signs such as elevated jugular venous pressure, peripheral edema, ascites, and hepatomegaly. Transthoracic echocardiography is the initial modality of choice for diagnosis of cardiac lymphomas because it is readily available and helps localize the tumor, but transesophageal echocardiography and magnetic resonance imaging remain the best tests for evaluation. Treatment consists primarily of chemotherapy, and anticoagulation can be used in certain cases where embolization of the tumor is likely. This case review describes a 37-year-old man with past medical history significant for herpes zoster and stage 1 syphilis who presented with complaints of weight loss, intermittent fevers, and vague chest pains of 1-month duration.
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PMID:Symptomatic metastatic right atrial lymphoma in a patient with AIDS presenting with pulmonary embolization. 1912 86

We present three cases of pericarditis caused by Streptococcus pneumoniae diagnosed in children. The presenting symptoms were fever, dyspnea, tachycardia, and hepatomegaly. Chest X-rays showed an enlarged heart silhouette and echocardiographic examination revealed a pericardial effusion in all cases. S. pneumoniae was recovered from the pericardial fluid and/or blood in all cases. Systemic antibiotic treatment and dopaminergic agents were used; all patients recovered completely. Another 10 cases of S. pneumoniae pericarditis in children reported since 1980 are presented. Most cases had preceding respiratory symptoms and had a good outcome. While rare and life-threatening, pericarditis caused by S. pneumoniae has a good outcome if diagnosed early and treated adequately.
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PMID:Acute pericarditis caused by Streptococcus pneumoniae in young infants and children: three case reports and a literature review. 1957 Jul 2

A 1.5-yr-old captive male Gambian giant pouched rat (Cricetomys gambianus) died after suffering from anorexia, weakness, and dyspnea for 3 wk. Thoracic radiographs of thorax and abdomen and computed tomography showed a severe biventricular enlargement of the heart and a moderate hepatomegaly. Necropsy revealed a severe, bilateral hypertrophic cardiomyopathy and dilation of the right ventricle due to multifocal bilateral, valvular endocardiosis of all atrioventricular valves and acute hepatic congestion. Histologically, the atrioventricular valves were multifocally thickened by a marked endocardiosis with stromal accumulation of Periodic acid-Schiff (PAS)-positive, mucinous material. Although common in dogs, endocardiosis has not been described in Nesomyidaes. As in other affected species, the pathogenesis of endocardiosis in this species remains unclear.
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PMID:Chronic heart failure due to severe endocardiosis in a Gambian giant pouched rat (Cricetomys gambianus). 2072 67

A 57-year-old male had suffered from back pain for years. Three years before the presenting symptoms he had had a lumbar disc operation during which he had bled markedly. Current symptoms of tiredness and dyspnea were new to this otherwise healthy and active man. Initial examinations revealed an enlarged liver, some ascites and signs of heart failure. A liver biopsy showed well-preserved structures with minor signs of inflammation. Cardiac cathetrization revealed increased pulmonary pressures and thus portopulmonary hypertension was suspected. A clinical examination, however, revealed a thrill and a strong systodiastolic murmur in the lower abdomen. CT-angiography confirmed the suspicion of an arteriovenous fistula. The fistula was successfully treated with a covered stent placed in the common iliac artery.
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PMID:[Chronic back pain, hepatomegaly and dyspnea]. 2082 71

Nucleoside analogue reverse-transcriptase inhibitors (NRTIs) especially stavudine, used for the treatment of HIV infection have been rarely associated with lactic acidosis syndrome (LAS) and severe neuromuscular weakness mimicking Guillain Barre syndrome. A 36-year-old man presented with a one-week history of nausea, vomiting, epigastric pain, dyspnea associated with progressive muscle weakness and numbness in glove and stocking pattern. He had symptomatic HIV infection, diagnosed 2 years before the admission and was treated with GPOvir (lamivudine, stavudine and nevirapine). Physical examination revealed afebrile dyspnic drowsy man with crepitation in both lungs and hepatomegaly. Neurological examination showed areflexic symmetrical weakness of both extremities and decreased pin-prick sensation in glove and stocking pattern as well as loss of vibration and touch sensation in both hands and feet. He developed cardiopulmonary arrest and was intubated. Investigations revealed severe lactic acidosis (lactic acid = 21.1 mg/dl). Electrophysiological studies revealed severe sensorimotor axonopathy predominantly involved the lower extremities. Stavudine was discontinued. Severe LAS dramatically improved and polyneuropathy gradually recovered with symptomatic as well as supportive interventions. Monitoring of LAS and neuromuscular weakness is advocated in HIV patient who receive stavudine therapy. Immediate discontinuation of the medication after detection of these complications may prevent this fatal complications.
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PMID:Lactic acidosis associated with severe neuromuscular weakness and stavudine therapy. 2159 38

Budd-Chiari syndrome (BCS) is a rare disorder characterized by hepatic venous obstruction. A 41-year-old male patient presented with right upper quadrant pain, abdominal distension, and dyspnea. He had a history of BCS that was associated with polycythemia vera. Abdominal computed tomography showed hepatomegaly and a hypodense filling defect suggestive of thrombus formation in the hepatic, splenic, and portal veins, and suprahepatic part of the inferior vena cava. Transthoracic echocardiography performed to assess the extension of this pathological process and its relation with intracardiac structures showed a mass lesion in the right atrium, about 4 x 3 cm in diameter. The lesion manifested as an intracardiac thrombus extending from the inferior vena cava. The patient underwent surgical treatment to remove the atrial mass. At surgery, the lesion turned out to be an atrial tumor, which was diagnosed as atrial myxoma in histopathologic examination. The symptoms of the patient resolved after surgery.
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PMID:Right atrial myxoma associated with portal and splenic vein thrombosis in a patient with Budd-Chiari syndrome. 2164 35

Six cases of fatal myocarditis associated with encephalomyocarditis virus occurred over a 14-month period in a group of outdoor-housed juvenile rhesus macaques. All animals were younger than 3 years of age and died or were euthanized following acute onset of dyspnea or pulmonary effusion (3 of 6) or were found dead without premonitory signs (3 of 6). Gross findings included pulmonary congestion (6 of 6), variable degrees of pleural effusion (4 of 6), multifocal pale tan foci throughout the myocardium (3 of 6), hepatomegaly and hepatic congestion (3 of 6), and pericardial effusion (1 of 6). Histologically, affected myocardium was infiltrated multifocally by lymphoplasmacytic and histiocytic inflammation admixed with necrotic and degenerate myofibers and infrequent mineralization (6 of 6). Pulmonary edema was present in all animals. Encephalomyocarditis virus was confirmed in 6 of 6 hearts by immunohistochemistry, and virus was isolated from one case by polymerase chain reaction. Sequencing of virus isolated from 1 affected animal indicated infection with a novel encephalomyocarditis virus. Encephalomyocarditis virus should be considered as a differential etiology in outbreaks of myocarditis and pulmonary edema in juvenile primates.
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PMID:Epizootic myocarditis associated with encephalomyocarditis virus in a group of rhesus macaques (Macaca mulatta). 2285 14


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