Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For over 15 years, upper respiratory tract obstruction due to adenotonsillar hypertrophy has been known to cause hypoxia, hypercapnia, increased pulmonary vascular resistance and thereby cor pulmonale and congestive heart failure. This is now an uncommon but not rare entity and three recent cases prompted this report. The typical patient is dyspneic with retractions, cyanosis, occasional periods of apnea and somnolence. Edema and hepatomegaly and at times splenomegaly are common. X-rays show cardiomegaly, which on electrocardiogram is found to involved mainly the right ventricle. The strict definition of cor pulmonale is right ventricular hypertrophy secondary to lung disease or abnormal pulmonary function, a definition that may logically be stretched to include abnormal respiratory function secondary to upper airway pathology. The mechanisms by which this occurs are generally agreed upon. Hypoxia has been demonstrated to cause pulmonary vasoconstriction. Acidosis and hypercapnia are thought by some to have the same effect. Pressure across the pulmonary vascular bed is also increased, as predicted by Poiseuille's law, by the high rate of blood flow required to maintain tissue oxygenation with poorly oxygenated blood. Conditions producing hypoxia of hypercapnia or both lead to hypertrophy and eventually to dilatation of the right ventricle. Three cases of children who underwent cardiac catheterization while suffering from cor pulmonale due to adenotonsillar hypertrophy are reported. Right ventricular pressure averaged 44/5, PAO2 72, pH 7.32, and PACO2 52. All were clinically improved following adenotonsillectomy. Cardiac catheterization was repeated in one case, with right ventricular pressure dropping from 44/5 to 21/2, pulmonary vascular resistance from eight units to three, and PACO2 from 62 to 44.
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PMID:Cardiac and pulmonary failure secondary to adenotonsillar hypertrophy. 95 48

1. Laennec's lung disease lasted for at least 20 years. Its stigmata included chronic cough, sputum production and intermittent wheeze. 2. Laennec had long term stigmata commonly associated with chronic bronchiectasis, sinusitis, physical frailty, and short stature (5ft 2in). 3. Chronic diarrhoea of at least 20 years duration is not strongly associated with tuberculosis. 4. During Laennec's last illness his physicians equivocated as to whether he had respiratory disease at all. Bronchial breathing at the apex, if indeed present, could have been caused by compensatory emphysema secondary to middle lobe bronchiectasis rather than to active tuberculosis. 5. Laennec did not have haemoptysis in his final illness. 6. Laennec's last illness, a wasting illness characterised by intermittent fevers, cardiac murmur, and persistent tachycardia followed a dental manipulation. The painful "abdominal abscess" noted by Laennec's colleagues may actually have been splenomegaly. These features suggest endocarditis. The cardiac murmurs associated with pulmonary hypertension secondary to bronchiectasis are not usually audible at a remote distance from the patient. Endocarditis was a disease largely unknown to physicians of the early 19th century before Osler clarified its pathology in the 1880s.
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PMID:Rene Laennec: his brilliant life and tragic early death. 266 72

The severity of the graft-versus-host (GVH) reaction, judged by splenomegaly and immunosuppression, was augmented by murine cytomegalovirus (MCMV) infection. Profound GVH-induced immunosuppression was seen in adult unirradiated MCMV-infected F1, mice even after challenge with extremely low doses of parental spleen cells. Mice receiving MCMV+GVH challenge died from days 16-21, with interstitial pneumonia being the most prominent pathological lesion. Pulmonary disease was unrelated to levels of viral replication in the lung. These results suggest that in human marrow recipients, cytomegalovirus infection may play a primary role both in provoking or accentuating GVH disease, as well as in the development of interstitial pneumonia.
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PMID:Augmentation of graft-versus-host reaction by cytomegalovirus infection resulting in interstitial pneumonitis. 298 27

The investigation of elderly patients presenting with raised PCV values has been described. Suitable clinical and laboratory investigation enables the separation of those with a raised red cell mass (RCM) into three groups: primary proliferative polycythaemia (PPP), secondary polycythaemia and idiopathic erythrocytosis. Those patients with a raised PCV but normal RCM either have apparent polycythaemia (normal plasma volume) or relative polycythaemia (low plasma volume). PPP is a clonal disorder with a peak incidence in the elderly. It commonly presents with vascular occlusive symptoms/signs involving larger vessels, both arterial and venous. The microvasculature may also be involved, particularly when there is associated thrombocythaemia. Effective treatment is required to minimize the future vascular occlusive incidence and diminish the complication rate of surgery if it is ever required. Both the PCV and the platelet count, if elevated, should be adequately controlled. 32P is probably the simplest treatment and is very effective, but venesection and intermittent low-dose busulphan is equally satisfactory in the co-operative patient with good peripheral veins. Secondary polycythaemia may arise from a variety of causes, particularly from arterial hypoxaemia and renal lesions. Occasionally, more than one pathology is identified in the elderly patient. Lung disease is the most common cause of hypoxaemia. Venesection may be indicated in those patients with excessively raised PCV values. The term idiopathic erythrocytosis should only be used for patients who have been adequately investigated. These patients most commonly present with ischaemic or vascular occlusive symptoms/signs. Relative polycythaemia may be caused by fluid loss, but generally the origin of the low plasma volume is not established. Apparent polycythaemia may represent a physiological variant or a stage before the development of a definitely raised RCM. The management of idiopathic erythrocytosis, and relative and apparent polycythaemia, should initially involved removal of known risk factors if present (e.g. hypertension) with the addition of venesection in selected patients. Reactive thrombocytosis in the elderly is most commonly due to malignant disease of chronic infection. The high platelet count is usually asymptomatic, and antiplatelet therapy is rarely required. Primary thrombocythaemia (PT) is a clonal myeloproliferative disorder similar to PPP. The finding of splenomegaly, abnormal platelet morphology or function helps to separate PT from reactive thrombosis. PT most commonly presents with digital or transient cerebral ischaemia or haemorrhage.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Polycythaemia and thrombocythaemia in the elderly. 332 42

Alpha-1-antitrypsin is a blood glycoprotein synthesized in the liver. It is a protease inhibitor of the serpine group and has a specific action for elastase. Alpha-1-antitrypsin electrophoresis shows about 20 phenotypes, the normal one being PiM. The allele PiZ is usually responsible for liver or lung disease in children or adults, respectively. Eleven per cent of PiZZ infants present with prolonged neonatal cholestasis. Twenty-five of 45 PiZZ infants with prolonged neonatal cholestasis presented with later cirrhosis. Persistence of jaundice beyond the sixth month of age, early development of splenomegaly, persistence of hard hepatomegaly and liver function abnormalities, and early portal fibrosis have a poor prognostic significance. The most severe course occurs in infants with an early histologic pattern of paucity of interlobular bile ducts. Portal hypertension was present in 19 of 25 children presenting with cirrhosis; 8 of 25 PiZZ children with cirrhosis died during childhood.
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PMID:[Alpha 1-antitrypsin deficiency in childhood]. 387 73

Sarcoidosis, a granulomatous disease of unknown etiology, is most often seen in young adults. Childhood cases have been reported primarily from Virginia, North Carolina, and South Carolina. Thirty children have been seen in Arkansas between 1957 and 1982, which suggests that the endemic area for childhood sarcoidosis should include both the south central and southeastern United States. The median age was 11 years; 29/30 were black; and 90% were symptomatic, 60% with systemic symptoms. Manifestations included abnormal chest roentgenograms (100%), restrictive pulmonary functions (79%), lymphadenopathy (63%), splenomegaly (40%), skin lesions (30%), granulomatous uveitis (27%), hyperglobulinemia (72%), and hypercalcemia (30%). Course and prognosis were similar to those in adults at follow-up of two to 11 years. Four with uveitis had serious residua in the eyes, three had crippling restrictive lung disease, and two died of respiratory failure. Sarcoidosis seems to be an immunologic response to an unknown inhaled antigen, probably present in the southeastern and south central US.
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PMID:Childhood sarcoidosis in Arkansas. 398 64

A 31-year-old woman presented with hypercalcemia, anemia, azotemia, and splenomegaly. Extensive laboratory studies failed to establish the diagnosis, though sarcoidosis seemed likely on the basis of marked hypercalciuria and restrictive lung disease. Conjunctival biopsy showed noncaseating epithelioid granulomas, confirming the clinical diagnosis. Conjunctival biopsy deserves consideration in the evaluation of the patient with unexplained hypercalcemia or other findings suggestive of saroidosis.
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PMID:Conjunctival biopsy in unexplained hypercalcemia. 722 48

Focal and multilobular biliary cirrhosis are considered pathognomonic of cystic fibrosis (CF) and almost invariably have been reported in patients with steatorrhea. In contrast, patients with pancreatic sufficiency and normal absorption are considered less likely to develop liver or biliary tract problems. The authors report three patients with CF and pancreatic sufficiency, presenting with recurrent abdominal pain (unrelated to pancreatitis). All had common bile duct disease, one with multilobular cirrhosis and portal hypertension. Pancreatic sufficiency was proven by quantitative pancreatic stimulation tests, 3-day fecal fat analyses, and serum pancreatic isoamylases. All three patients had mild lung disease. Two were homozygous for the common delta F508 mutation, and the other, a delta F508 compound heterozygote. Hepatobiliary structure and function were determined by serial hepatobiliary scintigraphy, percutaneous transhepatic cholecystography, and biochemical liver function tests. Patients 1 and 3 had mild hepatomegaly, normal liver biochemistry, and distal common bile duct strictures. Patient 2 had a firm nodular liver with splenomegaly, abnormal liver biochemistry, and a cholangiographic appearance of sclerosing cholangitis. All have undergone operative treatment for persistent abdominal pain. These cases confirm the occurrence of common bile duct pathology and liver disease in patients with CF and pancreatic sufficiency. They demonstrate that liver and biliary tract disease can occur independently of the underlying disease severity and the presence of steatorrhea. Further, they suggest that obstruction of the biliary tract may be an additional factor in the evolution of liver disease in CF.
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PMID:Hepatobiliary disease in cystic fibrosis patients with pancreatic sufficiency. 753 38

Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but are free of neurological involvement. Types II (MIM 230900) and III (MIM 2310000), the acute infantile and juvenile forms, respectively, of Gaucher disease, are characterized by the fact that the central nervous system is affected.
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PMID:Glucocerebrosidase (Gaucher disease). 888 78

Since 1983 large number of people are being encountered with arsenic toxicity due to drinking of arsenic contaminated water (0.05-3.2 mg/l) in 6 districts of West Bengal. Clinical and various laboratory investigations were carried out on 156 patients to ascertain the nature and degree of morbidity and mortality that occurred due to chronic arsenic toxicity. All the patients studied had typical rain drop like skin pigmentation (being inclusion criteria) while thickening of palm and sole were found in 65.5% patients. Other features included weakness (70%), gastro-intestinal symptoms (58.6%), involvement of respiratory system (57.08%) and nervous system (50.6%). Lung function tests showed restrictive lung disease in 53% (9/17) and combined obstructive and restrictive lung disease in 41% (7/17) of patients. Abnormal electromyography was found in 34.8% (10/29) and altered nerve conduction velocity in 34.8% (10/29) of cases. Enlargement of liver was found in 120 cases (76.9%) while splenomegaly in 31.4% cases. Liver function test showed elevated globulin level in 15.8% and alkaline phosphatase in 51.3%, alanine amino transferase (ALT) in 11.8% and aspartate amino transferase (AST) in 27.6% of cases. Evidence of portal hypertension was found in 33.3% patients. Liver biopsy reports of 45 patients showed non-cirrhotic portal fibrosis in 41, cirrhosis in 2 and normal histology in 2 cases. There was no correlation between the quantity of arsenic taken through water and the level of arsenic in hair, nail, liver tissues and the degree of fibrosis. There were 5 deaths of which one had skin cancer. The various non-cancer manifestations which were observed in these patients were much severe than those reported in similar cases in other parts of the world.
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PMID:Chronic arsenic toxicity in west Bengal--the worst calamity in the world. 960 Nov 81


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