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)

The consumption of monensin-containing feed resulted in deaths of water buffaloes from a feedlot in which cattle and buffaloes were kept together. The monensin formulation was recommended only for use in cattle. Anorexia, muscular weakness, dyspnea, and recumbency were the major clinical findings. The most significant gross lesions were focal pale areas in semitendinosus and semimembranosus muscles, in which segmental necrosis of myofibers was seen microscopically. To compare susceptibilities of species to monensin, 3 bovine calves and 3 buffalo calves were orally dosed. At 5, 7.5, and 10 mg/kg of monensin, only the buffaloes became ill and died. Clinical signs initiated 18-20 h postdosing and were comparable to those from field cases. Gross changes consisted of ascites, hydrothorax, hydropericardium, hepatomegaly, and focal pale areas in the myocardium and to a lesser degree in semitendinosus and semimembranosus muscles. Histopathological changes also resembled those from the field cases, but were especially pronounced in the myocardial cells. The hypothesis that buffaloes could have a lower tolerance to monensin than cattle has been supported by experimental cases.
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PMID:Monensin toxicosis in water buffaloes (Bubalus bubalis). 1703 23

In this study, the clinical and laboratory features of 26 infectious mononucleosis (IMN) cases who have been diagnosed between the years of 1984-2005 were evaluated retrospectively. The mean age of the patients was 26+/-11 years, the rate of being hospitalized was 65%, and mean hospitalization period was 9.2+/-6 days. Fever (81%), weakness (50%), sore throat (50%), headache (50%) and swollen neck (35%) were the most common symptoms, while in the physical examination cervical lymphadenopathy (81%), splenomegaly (69%), hyperemic pharynx (65%), hepatomegaly (54%) and tonsillitis (50%) were observed. Laboratory results yielded leukocytosis in 21%, leucopenia in 12%, anemia in 44%, thrombocytopenia in 5% and elevated transaminase levels in 84% of the patients. Of the patients 15 (57.7%) had the history of using antibiotics before the diagnosis. Serological diagnosis was performed by Paul-Bunnel test and/or IgM positivity against Epstein-Barr virus (EBV) viral capsid antigen (VCA). Tonsillo-pharyngitis secondary to edema and respiratory distress due to lymphadenopathy pressure were detected in four patients, whereas pancytopenia was established only in one patient, as complications. This study emphasized that, although IMN is a self-limited infection, the diagnostic difficulties may arise when the clinical course is atypical, and rarely seen life-threatening complications may also develop during IMN course.
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PMID:[Retrospective evaluation of patients who were diagnosed as infectious mononucleosis between 1984-2005]. 1742 57

Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in elderly people. The clinico-hematological profile and treatment outcome of patients with CLL were assessed using retrospective case record analysis over 11 years. There were 95 (75 males: 20 females) patients with a median age of 61 years. Thirty patients were aged 55 years or less (young CLL patients) and 65 were more than 55 years of age (elder CLL patients). Sixty percent patients had non-specific complaints, such as weakness, cough and indigestion. Twenty-six (27%) patients had pallor and 24 (25%) had fever as initial presenting manifestation. Bleeding manifestations were seen in 7 patients. Seven patients were diagnosed incidentally. Lymphadenopathy, splenomegaly and hepatomegaly were seen in 52 (55%), 63 (66%) and 60 (63%) patients, respectively. The median white blood cell count and absolute lymphocyte counts were 70,600 and 51,490/mul, respectively. Three patients had autoimmune hemolytic anemia. Twenty-five patients (26%) had anemia with hemoglobin < 11 g/dl and thrombocytopenia with platelet count 100 x 10(3)/mm(3) was seen in 17 (18%). Interstitial nodular, mixed and diffuse bone marrow (BM) involvement was seen in 10.2, 67.3, 6.1 and 16.3% cases, respectively. Eighteen (60%) young patients and 35 (54%) older patients required treatment with chlorambucil. The mean time from initial diagnosis to treatment was 4.6 +/- 10.7 months. None of our patient attained complete response. Six patients obtained partial response. Median duration of chlorambucil was 7 months (1-86 months). Forty-six patients had stable disease. Three patients died. Median survival of study group was 4 years (8 months-13 years). In older CLL it was 4 years (8 months-11 years) and in young patients, survival duration was 5.5 years (1-13 years).
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PMID:Chronic lymphocytic leukemia in India--a clinico-hematological profile. 1755 98

Pompe disease is a rare autosomal recessive disease caused by the deficiency of acid alpha-glucosidase (GAA), which is required for the degradation of lysosomal glycogen. Glycogen accumulation in heart, muscle and liver eventually leads to muscle weakness, hepatomegaly and cardiomegaly. Although an approved therapy does not exist, the efficacy of enzyme replacement therapy (ERT) has recently been reported in multinational trials in Europe and the US. Here, we present data on the efficacy of recombinant human acid alpha-glucosidase (rhGAA) (provided by Genzyme Corporation) in a patient with Pompe disease. At 5 months of age, motor delay (could not raise his head) and cardiomegaly were observed. A definite diagnosis of Pompe disease was made at 8 months of age after the accumulation of glycogen in a muscle biopsy specimen was observed. This was confirmed by low GAA activity. Since then, motor delay predominated and he was unable to sit independently by age 2.5 years. Every 2 weeks, 20 mg/kg of rhGAA was infused intravenously. To assess the effectiveness, chest X-ray, echocardiography and auditory brain response were recorded. The patient was administered rhGAA for 26 months from 2 years and 8 months of age. Following the initiation of ERT, hepatomegaly and cardiac function (ejection fraction) were rapidly improved and motor function was gradually improved. At 4 years and 10 months, the patient could walk with support. No adverse event has been observed. It can be concluded that ERT with rhGAA is an effective and safe regimen for this case.
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PMID:[Enzyme replacement therapy in a patient with Pompe disease]. 1787 14

We present a 10-year-old girl who presented to our emergency services with difficulty in breathing of 2-days duration and progressive weakness of a month's duration. In a previous admission elsewhere, she had not been detected to have hyperthyroidism or electrolyte abnormalities. On admission, the child was in hypercapnic respiratory failure with tachycardia and hepatomegaly. A small goiter as well as signs of thyrotoxicosis were present. Laboratory investigations showed anemia, mildly elevated liver enzymes and serum potassium of 4.8mEq/L. Despite intubation and ventilation and other supportive management including propranolol, the patient could not be saved. Post-mortem biopsy of the thyroid showed diffuse hyperplasia of the follicles and muscles showed evidence of thyroid myopathy.
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PMID:Fatal thyrotoxic periodic paralysis with normokalemia. 1805 90

We report the case of a 22-year-old woman who presented with acute onset flaccid quadriparesis. Physical examination showed mild pallor with cervical and axillary lymphadenopathy, hepatomegaly, and bilateral smooth enlarged kidneys. Neurological examination revealed lower motor neuron muscle weakness in all the four limbs with hyporeflexia and normal sensory examination. Laboratory investigations showed anemia, severe hypokalemia, and metabolic acidosis. Urinalysis showed a specific gravity of 1.010, pH of 7.0, with a positive urine anion gap. Ultrasound revealed hepatosplenomegaly with bilateral enlarged smooth kidneys. Renal biopsy was consistent with the diagnosis of non-Hodgkin lymphoma (B cell type). Metabolic acidosis, alkaline urine, and severe hypokalemia due to excessive urinary loss in our patient were suggestive of distal renal tubular acidosis. Renal involvement in lymphoma is usually subclinical and clinically overt renal disease is rare. Diffuse lymphomatous infiltration of the kidneys may cause tubular dysfunction and present with hypokalemic paralysis.
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PMID:Diffuse lymphomatous infiltration of kidney presenting as renal tubular acidosis and hypokalemic paralysis: case report. 1807 21

Three Swainson's Blue Mountain Rainbow Lorikeets (Trichoglossus haematodus moluccanus), ranging from 6 to 8 months of age, presented with lethargy, emaciation, and progressive neurologic signs. The first one died 24 hours after the onset of clinical signs, and the other two were euthanized 10 to 14 days after the onset of progressive neurologic disease. Clinical signs in these lorikeets included head pressing, hemiparesis, seizures, obtunded mentation, weakness, and lethargy. Two of the lorikeets had hepatomegaly, and one had splenomegaly on gross examination. Histopathology revealed disseminated microgranulomas in the liver, spleen, and brain, and lymphohistocytic perivascular encephalitis and cephalic vasculitis. Electron microscopic examination of macrophages in brain lesions revealed spherical to rod-shaped prokaryotic organisms with a trilaminar cell wall. Molecular analysis revealed a novel species of Coxiella. This is believed to be the first report of a Coxiella sp. causing disease in a lorikeet.
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PMID:Fatal coxiellosis in Swainson's Blue Mountain Rainbow Lorikeets (Trichoglossus haematodus moluccanus). 1842 42

Pulse therapy is one of the most well-known methods used in the treatment of juvenile rheumatoid arthritis. This study assessed the outcome of methylprednisolone pulse therapy, its rate of efficacy, and its associated complications in patients with juvenile rheumatoid arthritis (JRA). This cross-sectional study was performed on 120 children with JRA who attended the Pediatric Ward of Imam Khomeini Hospital from 1994 to 2004 and who had undergone around 500 cycles of methylprednisolone pulse therapies. Clinical signs, including signs of improvement, complications, or recurrence of disease, were noted. SPSS version 11.5 and paired t test were used to compare the variables prior to and after treatment. Clinical signs observed included: feeling of weakness (100%), malaise (98.3%), loss of appetite (93.3%), fever (88.3%), skin rash (28%), lymphadenopathy (18.3%), serositis (4.2%), splenomegaly (3.3%), and hepatomegaly (1.7%); however, none of these findings were present after pulse therapy. The number of swollen and tender joints, duration of morning stiffness, erythrocyte sedimentation rate, C-reactive protein, and hemoglobin levels showed significant improvement after pulse therapy. Complications of pulse therapy included tachycardia (n = 16, 13.3%), hypertension (n = 10, 8.3%), headache (n = 2, 1.7%), and flashing (n = 2, 1.7%). The mean duration of remission was 3.3 +/- 0.7 months.
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PMID:Efficacy of methylprednisolone pulse therapy in children with rheumatoid arthritis. 1860 80

Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen debranching enzymes (amylo-1-6-glucosidase and 4-alpha-glucanotransferase). GSD III is characterized by the accumulation of abnormal glycogen in the liver and skeletal muscle. The primary clinical manifestations are hepatomegaly, fasting hypoglycemia, and hyperlipidemia in infants. We report a rare case of GSD III in an adult. A 52-year-old woman presented to our clinic due to dyspnea on exertion, severe general weakness, and hepatomegaly. Hypertrophic cardiomyopathy was diagnosed based on echocardiogram findings. The microscopic findings of liver and skeletal muscle biopsies were consistent with the diagnosis of GSD. DNA analysis prompted by clinical and pathologic findings led to a definitive diagnosis of GSD IIIa. Diet therapy with cornstarch was started, and the patient was followed closely. This represents the first reported case of GSD IIIa diagnosed in an adult in Korea.
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PMID:An adult case of glycogen storage disease type IIIa. 1861 70

We report on clinicopathological and whole body MRI analyses of the index patient of a large nonconsanguineous German-Ukraine family with homozygous and heterozygous AGL gene mutations at position p.W1327X (c.3980G > A). There are only limited reports on this phenotype with a homozygous genotype. The index patient, a 49-year-old woman presented with hepatomegaly, cardiomyopathy and moderate progressive proximal limb myopathy. Skeletal muscle showed severe vacuolar myopathy with storage of PAS-positive non-membrane-limited glycogen. An increase in glycogen content and completely decrease of debranching enzyme activity was measured in erythrocytes. Mutational analysis of the AGL gene showed a homozygous p.W1327X mutation. In the family, two brothers had been affected by severe infantile onset hepatomegaly and died within their first years of life by fatal liver cirrhosis. Furthermore, another sister severely affected by hepatomegaly, cardiomyopathy and proximal skeletal myopathy died at age 33. Three younger heterozygous sisters and a brother noticed exercise-induced myalgia and weakness since their teens. In sum, a homozygous p.W1327X mutation leads to a severe generalized glycogenosis types 3a and 3b within the same family. Even heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia and fatigue.
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PMID:Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. 1892 25


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