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)

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
 ...
PMID:Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. 828 68

Abnormalities in fatty-acid metabolism are believed to play a role in nonspecific acute encephalopathy (AE) with hepatomegaly, although the specific nature of these abnormalities and their temporal relationship to the pathology are not well defined. We have examined hepatic fatty-acid beta-oxidation and metabolism in a mouse model for AE in which neonatal mice were exposed dermally to nontoxic doses of the industrial surfactant, Toximul MP8 (Tox), daily from days 1 to 12 after birth, and then infected with a sublethal dose (LD30) of mouse-adapted human influenza B (Lee) virus (FluB). The number of deaths in the group treated with Tox + FluB were significantly higher than those in the group infected with virus alone. Under optimal in vitro assay conditions, beta-oxidation of [1-14C]palmitic acid was approximately 15% higher in liver homogenates from mice painted with Tox for 12 days (P < 0.02); catabolism of [1-14C]octanoic acid to 14C-labelled water-soluble products (14C-WSP) and 14CO2 was unaltered by Tox. Infecting Tox-free mice with FluB inhibited beta-oxidation of both [1-14C]palmitate and [1-14C]octanoate by 20-30% (P < 0.001). On days 18-19, when most Tox + FluB-dependent deaths occurred, the inhibition of oxidation was increased to approximately 50% in mice given the combined treatment. Treatment of the mice with Tox/FluB also altered the pattern of incorporation of fatty acids into complex lipids. Hepatic levels of thiobarbituric acid reactive substance (TBARS), a marker for lipid peroxides, were approximately 15% higher in Tox-painted than in control mice (P < 0.01); FluB alone had no effect. In Tox + FluB-treated animals, TBARS levels were > 2-fold higher than in any other experimental group (P < 0.001). These studies demonstrated that nasally-administered FluB has profound effects on hepatic fatty-acid metabolism, particularly beta-oxidation. Exacerbation of this and related effects by exposing young animals to xenobiotic surfactants could be the basis of surfactant-mediated potentiation of virus-induced mortality.
 ...
PMID:Abnormalities in hepatic fatty-acid metabolism in a surfactant/influenza B virus mouse model for acute encephalopathy. 861 61

To describe the clinical manifestations of dengue haemorrhagic fever (DHF) all children with a clinical diagnosis of DHF admitted to the paediatric ward of the Dr. Hassan Sadikin General Hospital (Bandung, Indonesia) between April 1st 1991 and September 30th 1993 were enrolled in a prospective study. Of the 306 children with a clinical diagnosis of DHF on admission in only 128 (41.8%) the diagnosis of DHF was confirmed by HI test. Of the confirmed cases, 24 (19%) developed shock and 1 (0.7%) died. Of the 174 cases with a negative HI test, 33 (19%) developed shock and 4 (2%) died. Four of the children died of shock before an hemagglutination inhibitor (HI) test was performed. The overall case mortality rate was 2.9%. The symptoms and signs of the 128 children with serologically confirmed DHF included fever or a history of fever (100%), petechiae (29.7%), epistaxis (39.1%), other forms of bleeding (5.5%), a positive Tourniquet test (78.1%), hepatomegaly (46.9%), epigastric pain (61.7%), vomiting (55.5%), thrombocytopenia < 100,000/mm3 (3.2% on admission and 15.3% during hospitalisation). Four (3%) children developed encephalopathy and 1 child an acute liver failure. In order to decrease the mortality associated with DHF early diagnosis and adequate case management are essential.
 ...
PMID:Clinical manifestations of dengue haemorrhagic fever in children in Bandung, Indonesia. 866 76

At the end of 1984, there were about 1.5 million children worldwide infected with HIV-1. 75% of these children lived in sub-Saharan Africa and Latin America. The rate of mother-to-child transmission of HIV-1 is estimated to range from 13% to 42%. It is twice as high in Africa as it is in Europe. By the year 2000, 6 million pregnant women and 5-10 million children will be infected with HIV-1. It appears that clearance of HIV-1 infection occurs in 2.7% to 6.4% of infected infants. Possible intervention strategies to reduce perinatal HIV-1 transmission include antiretroviral therapy with zidovudine, recommending breast feeding only in areas where it is clearly necessary, cesarean section, passive immunotherapy with anti-HIV immunoglobulins, and viral envelope subunit vaccines. An accurate diagnosis of HIV-1 infection can occur in non-breast fed infants born to seropositive mothers by the age of 3 months. Most children (80-90%) with HIV-1 infection develop features of HIV-1 infection within the first year of life. Common manifestations in the first year are lymphadenopathy, splenomegaly, and/or hepatomegaly. Young infants, especially those 3-6 months old, are more likely to be diagnosed with Pneumocystis carinii pneumonia (PCP) than older HIV-1 infected children. HIV-1 infected children are more likely to develop PCP, serious bacterial infections, cytomegalovirus infection, lymphoid interstitial pneumonitis, and encephalopathy than adults. They are, however, less likely to develop other opportunistic infections (e.g., toxoplasmosis, tuberculosis, cryptococcoses, and histoplasmosis). Possible underlying mechanisms of disease progression in HIV-1 infected children include presence of rapidly replicating syncytium-inducing HIV-1, high virus burden, persistent neutralizing antibody response, antibody-dependent cellular cytotoxicity against HIV-1, and transplacental passage of maternal neutralizing antibodies.
 ...
PMID:Paediatric HIV infection. 894 23

A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be hypoxic-ischaemic; hepatomegaly, and abdominal distension with bilious vomiting. Later problems included break-through fits with fever; transient visual agnosia; squint; severe articulatory apraxia; motor delay with later dyspraxia; macrocephaly, and post-haemorrhagic hydrocephalus. Magnetic resonance imaging showed variable structural abnormalities in all the early onset cases. Psychometric assessment revealed a stereotyped pattern of intelligence scale subtest scores, with a specific impairment of expressive verbal ability. In a prospective open study over one year, an increased dose of pyridoxine was associated with an improvement in IQ, particularly in performance subtests. Pyridoxine dependency is more common than has been thought. It has a wider range of clinical features than the classical neonatal seizures and causes specific impairments of higher function, some of which may be reversible. The dosage of pyridoxine should be optimal for IQ as well as seizure control.
 ...
PMID:Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 891 81

Thirty-seven serum samples and five serum-CSF pairs collected from 42 acutely ill patients admitted to hospitals in Maharashtra (Bombay, Pune and Nasik); Orissa (Raurkela) and South Goa were referred to the National Institute of Virology (NIV), Pune (Maharashtra, India) for serodiagnosis. These patients had clinical manifestations of fever, hemorrhagic manifestations, hepatomegaly, shock syndrome and encephalopathy. Sixty-six percent of patients were children below ten years of age. Serological investigations revealed infection to dengue virus in all the patients as indicated in detection of IgM antibodies predominantly to dengue viral antigens. An important outcome of the study is that 10 patients referred to NIV with a provisional diagnosis of viral encephalitis proved to be dengue.
 ...
PMID:Hemorrhagic manifestations and encephalopathy in cases of dengue in India. 918 55

The incidence of liver metastasis is quite frequent in patients with advanced cancer. Some patients are asintomatic, but more often a correlation can be present between the clinical observation and the anatomic and functional alteration of the liver provoked by metastasis. Hepatomegaly may cause pain, dyspnea, hiccup. Biliary obstruction generates jaundice and itching. Portal hypertension may cause ascitis, encephalopathy, varices of the esophagus. Hepatic failure may produce symptoms like sopor, dysrasic oedema, coagulation problems, jaundice. The treatment of the symptoms listed above is crucial for the quality of life of these patients, and must be the mainstay of the therapeutic approach. This paper describes the palliative treatment of the clinical complications related to liver metastasis.
 ...
PMID:[Clinical features and symptomatic treatment of liver metastasis in the terminally ill patient]. 921 73

The clinical characteristics of 43 patients (pts) and the biological features of their non-stage 4 neuroblastoma (11, 3, 15, 7 and 7 with stages 1, 2A, 2B, 3 and 4S, respectively) all managed initially without cytotoxic therapy at Memorial Sloan-Kettering Cancer Center are summarised. We staged patients by the International Neuroblastoma Staging System and measured their urine and serum tumour markers. Tumour MYCN copy number, chromosomal ploidy, chromosome 1p deletion, Shimada histopathology, trk-A and CD44 expression were analysed. Among patients with localised tumour (n = 36), 13 had residual disease after initial surgery, 19 had regional lymph node invasion and 6 had epidural involvement (2 of 6 being paraplegic). All 7 stage 4S patients had liver tumours, 3 had bone marrow involvement and 3 had lymph node involvement. The most common adverse biological markers were unfavourable histopathology (9/40 evaluable tumours) and diploidy (7/39 tumours tested). At a median follow-up of 50+ months, 42 patients are alive and well (5 with evidence of disease), and 1 patient in remission died of encephalopathy. Progressive/recurrent disease occurred in 12 patients, 1 stage 2A, 2 stage 2B, 4 stage 3 and 5 stage 4S. Chemotherapy was eventually used in 4 patients: a 3-year-old stage 2B patient who developed stage 4; a 2-year-old whose recurrent tumour had poor-risk biological markers; a 1-year-old whose recurrent stage 3 disease infiltrated a vertebral body and a stage 4S infant with respiratory impairment from progressive hepatomegaly. Three of the treated patients had diploid tumours. We conclude that non-stage 4 is of itself a strong predictor of a favourable outcome. Diploidy, unfavourable histopathology and unresectable tumours were associated with disease progression. However, evolution of local-regional tumour into distant metastatic stage 4 disease is not typical of neuroblastoma.
 ...
PMID:Survival from non-stage 4 neuroblastoma without cytotoxic therapy: an analysis of clinical and biological markers. 951 65

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality. We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia. Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme. Molecular genetic analysis of her VLCAD gene revealed a T1372C (F458L) missense mutation and a 1668 ACAG 1669 splice site mutation. After initial treatment with intravenous glucose and carnitine, the patient has thrived on a low-fat diet supplemented with medium-chain triglyceride oil and carnitine and avoidance of fasting. Her ventricular hypertrophy resolved significantly over 1 year, and cognitively, she is in the superior range for age. Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children.
 ...
PMID:Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. 970 14

We report the case of a two and a half year-old girl who developed fulminant hepatic failure following 5 days of regular oral ingestion of paracetamol, approximately 90 mg x kg-1 x day-1. She presented with the typical findings of hepatomegaly, encephalopathy, high ammonia levels, high transaminases, hypoglycaemia and lactic acidosis. After stabilization, she was transferred to a specialist paediatric liver failure unit and fortunately she made a full recovery with intensive medical management.
 ...
PMID:Paracetamol-induced fulminant hepatic failure in a child after 5 days of therapeutic doses. 1079 55


<< Previous 1 2 3 4 5 6 Next >>