Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.
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PMID:[Hepatolenticular degeneration]. 226 49

Among the many different manifestations of Epstein-Barr virus (EBV) infection, neurologic disturbances are less frequently observed, and they are diverse in nature. A young woman was admitted with acute hyperthermia, mydriasis, nystagmus, respiratory insufficiency, muscular hypertonia, evolving to decerebrate posturing, and bilateral facial epileptic contractions. The appearance of atypical blood lymphocytes, hepatitis, migrating skin rash, positive heterophile antibody tests, and specific serologic tests for EBV led to a diagnosis of EBV encephalitis. Under treatment with intravenously administered acyclovir, the patient recuperated almost completely. This case illustrates a less frequent manifestation of EBV infection.
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PMID:Coma as a presenting sign of Epstein-Barr encephalitis. 283 58

Geotropic direction-changing nystagmus in lateral body positions was observed in 4-week-old BALB/c mice after intracerebral injection with a temperature-sensitive mutant of mouse hepatitis virus. The positional nystagmus was detected already 2 days after infection and it lasted half a year at least. The nystagmic responses of the semicircular canals were also evaluated before and after infection. They were unaltered during the disease, which was clinically manifested by general weakness, ataxia and tremor. Histopathological examination 2 weeks after infection revealed demyelination in various parts of the CNS.
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PMID:Virus-induced central positional nystagmus in mice. 299 48

Visceral larva migrans was produced in 16 cynomolgus macaques (Macaca fascicularis) experimentally inoculated with 45,000 embryonated eggs of Toxocara canis as a single bolus or in 3 divided doses. The hematologic and serologic changes were similar to those observed in children with visceral Toxocara infection. Neurologic signs developed in 3 animals and were characterized by ataxia and nystagmus. Growth rates were diminished in inoculated animals when compared with the rates in noninoculated controls. Diagnostic antibody titers as measured by enzyme-linked immunosorbent assay were noted in all inoculated macaques by the 4th week, and these titers persisted during the 7-month period of observation. Antibody to Toxocara was not detected in the aqueous or vitreous humors. Lesions comprised severe granulomatous hepatitis and encephalomyelitis. Intraocular lesions associated with larval migration were not observed.
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PMID:Experimental Toxocara canis infection in cynomolgus macaques (Macaca fascicularis). 666 Jun 26

1. In animal studies, TPTA was found to be neurotoxic. In humans, variable CNS pictures have been described with or without significant EEG findings. Brain CT does not usually reveal any abnormalities. 2. Our patient presented with intermittent unique spontaneous involuntary movement of hands, facial twitching, silly smile and crying. Diplopia, drowsiness, giddiness, vertigo, bidirectional nystagmus, impairment of calculation ability, as well as disorientation to time, people and place also developed. EEG showed mild cortical dysfunction without seizures. MRI and Tc-99m HMPAO brain SPECT revealed no significant findings. TPTA may cause cellular dysfunction of brain without structural damage, which results in variable CNS clinical presentations. 3. Nadir of leucopenia was noted on the sixth day after consumption of TPTA. Liver impairment occurred on the ninth day. Borderline demyelinated neuropathy developed on the fifty-third day. CNS abnormalities, delayed peripheral neuropathy, hepatitis and leucopenia deserve monitoring for a prolonged period, even when the victim initially presents with GI upset only after consumption of TPTA.
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PMID:Unique cerebral dysfunction following triphenyltin acetate poisoning. 972 37

Chediak - Higashi Syndrome (CHS) is a rare, primary Immunodeficiency disorder with an autosomal recessive (AR) inheritance and characterized by recurrent infection, partial occulocutaneous albinism and an accelerated phase.In this report we describe clinical and laboratory findings from 6 CHS patients. Clinical and laboratory information of six patients who were referred to our center during the last 20 years (from 1983 - 2003) were reviewed.Onset age of disease was between 3 months to 10 years. All patients had history of consanguineous parents and two patients were siblings. All patients had oculocutaneous albinism, nystagmus, recurrent infections which included upper and lower respiratory tract (U and LRT) infections, stomatitis, thrush, and skin abscesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, CD8 and CD19 lymphocyte by flowcytometry and three of the four patients had chemotatic defect. Five patients certainly had giant granule in bone marrow neutrophil and in one patient it was equiovocal. Three patients had an accelerated phase, and for one patient bone marrow transplantation was done that was tolerated well and had been well after 7 years.We emphasize the need for early diagnosis on basis of characteristic facies and diagnostic laboratory examinations and early bone marrow transplantation (BMT) in patients.
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PMID:Report of six cases of chediak-higashi syndrome with regard to clinical and laboratory findings. 1730 79

Deoxyguanosine kinase (DGUOK) catalyzes the first step of the mitochondrial deoxypurine salvage pathway, the phosphorylation of purine deoxyribonucleosides. Mutations in the DGUOK gene have been linked to inherited mtDNA depletion syndromes, neonatal liver failure, nystagmus, and hypotonia. Previously, we reported the first case of a heterozygous unclassified c.592-4_c.592-3delTT alteration in a patient with DGUOK deficiency without the demonstration of its pathogenicity (Dimmock et al., 2008). This alteration was predicted to cause aberrant splicing based upon two computer algorithms. We now report a homozygous c.592-4_c.592-3delTT mutation found in two affected siblings of asymptomatic consanguineous parents. The proband presented with symptoms of idiopathic hepatitis, liver dysfunction, nystagmus, and retinal blindness. This individual died at 6months of age due to liver failure. This individual's affected sibling presented similarly and has remarkable elevations of tyrosine, methionine, and alanine. Many organic acids were elevated in urine, including lactic acid, Krebs cycle intermediates, and para-hydroxy compounds; ketone bodies were also present. RNA studies support aberrant splicing. Sequencing of cDNA detected exon 5 skipping in the two affected siblings, but not in the normal control. These results indicate that the homozygous c.592-4_c.592-3delTT is deleterious and responsible for the DGUOK deficiency. The parents were subsequently confirmed to be carriers of this mutation. In summary, we have demonstrated that c.592-4_c.592-3delTT is a pathogenic splice acceptor site mutation leading to DGUOK deficiency.
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PMID:A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. 1990 May 89

Thymomas are relatively uncommon malignancies of the anterior mediastinum and present with four distinct histological types based on the specific epithelial to lymphocyte ratio: spindle cell, epithelial predominant, lymphocyte predominant, or mixed. Each histologic type of thymoma has a propensity for local invasion and metastasis and can have a wide variety of paraneoplastic manifestations, myasthenia being the most common. We present a unique case of a 34-year-old African-American female who initially presented with a history of profound weakness with repetitive motion, shortness of breath, horizontal nystagmus, persistent anemia, keratoconjunctivitis sicca, and what was initially thought to be azithromycin-induced hepatitis. Upon left anterior thoracotomy with biopsy of the mediastinal mass, pathology yielded a lymphocyte-predominant (B1), Masaoka stage IVA invasive thymoma with pericardial extension. This case illustrates the clinical significance of considering a multitude of extrathymic paraneoplastic manifestations, each with a unique physiological mechanism.
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PMID:Polyparaneoplastic Manifestations of Malignant Thymoma: A Unique Case of Myasthenia, Autoimmune Hepatitis, Pure Red Cell Aplasia, and Keratoconjunctivitis Sicca. 2874 21