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)

The clinico-pathological features of 42 children with autoimmune haemolysis are described. Over 65% of cases were seen before their 5th birthday. In this group males predominated by the ratio of 2.5:1, but in the older children both sexes were equally affected. The incidence decreased from 1 in 188 X 10(3) in young males to 1 in 1,780 X 10(3) in children over 10. Cases were classified serologically. Of particular note was the frequency of Donath-Landsteiner haemolysis which equalled that due to warm autoantibodies; together these groups made up 79% of the total cases. Most haemolytic episodes followed an acute infection. This was frequently mild and often involved the upper respiratory tract; in only 2 patients was haemolysis associated with underlying collagenosis. Typically there was a sudden onset of pallor and malaise; jaundice, splenomegaly and hepatomegaly were found in about half the subjects. Haemoglobinuria was characteristic of Donath-Landsteiner haemolysis. The illness was severe, with Hb levels falling below 6.0 g/dl in 28 patients. Prednisolone, blood transfusion and, where indicated, antibiotics were usually effective in treating the illness, with splenectomy reserved for cases where this treatment was unsatisfactory. In several individuals no treatment was required. Recovery was rapid, and complete recovery occurred in 83% of patients, usually within 6 months. Although 2 patients died, a generally optimistic prognosis can be given, particularly in the absence of an underlying chronic disorder.
 ...
PMID:Autoimmune haemolysis in childhood and adolescence. 643 92

The clinical case of one patient with fever of unknown origin, due to granulomatous hepatitis of tuberculous etiology was presented. The patient was a a 50-year-old woman, with 50 days illness characterized by chills, 39 degrees C fever and heavy diaphoresis. She had a record of seven malaria cases. She looked thin and pale at the initial physical examination. During the evolution, she developed pancytopenia, massive hepatosplenomegaly, jaundice, and anasarca. The patient underwent screening tests for infection, neoplasias, collagenosis, and granulomatous diseases. The laboratory tests showed transaminase-alkaline phosphatase dissociation, which led to the final diagnosis of tuberculosis, through the histological examination of the liver parenchyma. The specific treatment against tuberculosis caused remission of fever, ascites, and hepatomegaly and normalization of liver tests, with satisfactory clinical evolution.
 ...
PMID:[Granulomatous tuberculous hepatitis as cause of fever of unknown origin]. 1252 48

Observation of major pathological alterations in a young person involves etiological and clinical justifications, in order to properly assess, treat and control these conditions. The aim of this paper is to present severe, acute pathological lesions, installed in a young person, secondary to hypodiastolic heart failure, due to persistent supraventricular tachyarrhythmia, triggered by a post-traumatic external stimulus, with complete remission post-electrical conversion. Pathological and clinical modification are revealed, in a young person, shortly after a minor thoracic trauma, in the absence of traumatic injury but with high-frequency palpitations onset and progressive installation of vascular, visceral and interstitial stasis modifications, as well as of vascular and tissular hypoperfusion with reactive vasoconstriction. These clinical and paraclinical aspects were: stasis hepatomegaly with hepatojugular reflux, pulmonary congestion with stasis rales, peripheral edema, transudative polyserositis - pericarditis, hydrothorax, ascites, dilatation of inferior vena cava and suprahepatic veins, decrease of arterial blood pressure, tissue and cutaneous vasoconstriction. Anatomical and clinical aspects, with major alterations (Vth degree hepatomegaly, polyserositis, peripheral edema, tachyarrhythmic heart contractions, hypotension, pallor accentuated by vasoconstriction) acutely installed in a previously healthy young person, require a rapid lesions diagnosis and emergency treatment due to vital risk, control of acute heart failure manifestations remission and proper monitoring. Differential diagnosis was focused on determining possible aspects like: acute heart failure (of various etiology), internal post-traumatic lesions or hemorrhages, tuberculosis polyserositis, collagenosis, nephrotic syndrome, protein deficiencies, neoplasia with hepatic determinations, hematological diseases (lymphomas, leukemias), considered in young patients. Severe visceral, vascular and tissular pathological alterations were reactively induced in a young person, by stasis and hypoperfusion due to hypodiastolic heart failure caused by persistent supraventricular tachyarrhythmia triggered post-traumatic, on a proarrhythmic structural heart.
 ...
PMID:Visceral and tissular reactivity in acute heart failure due to supraventricular tachyarrhythmia in a young patient. 2800 30

Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. We report a 30-year-old female patient with diabetes who has acromegaloid features, prominent umbilicus, prominent muscles, prominent subcutaneous veins, and gross hepatomegaly. Near-total loss of subcutaneous fat was confirmed by whole-body magnetic resonance imaging and laboratory data revealed significant hypertriglyceridemia, uncontrolled diabetes mellitus, and heavy proteinuria with stage IIIa chronic kidney disease. Her blood film revealed thrombocytosis that on further evaluation by bone marrow biopsy was confirmed to be a myeloproliferative neoplasm (MPN); essential thrombocytosis (ET). She also had skin lesions that were proven to be reactive perforating collagenosis and necrobiosis lipoidica diabeticorum. She was managed conservatively and received interferon injections with fair general condition and control of her ET. However, her kidney function deteriorated furthermore to stage V chronic kidney disease requiring regular treatment with hemodialysis. We believe this is a unique case of Berardinelli-Seip syndrome with MPN that could be a coincidental association or part of a new syndrome.
 ...
PMID:Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association. 3264 89