Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A review of the literature about angio-immunoblastic lymphadenopathy since 1972 Flandrin's first description, attempts to define the main clinical, biological characteristics and clinical course of this disease. Clinically adenopathy, fever, weight loss, often hepatosplenomegaly of the appear as being constant. Hemolytic anemia and polyclonal hyperglobulinemia are the most common biological signs of this immunological disorder. In despite of spontaneous remissions, prognosis is severe. Infections complications are common and often fatal. Transformation in immunoblastic sarcoma is possible.
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PMID:[Angio-immunoblastic lymphadenopathy (author's transl)]. 624 2

Malaria manifested during the first few months of life may be result of acquisition during pregnancy, at the time of delivery, or by mosquito bite after birth. Both congenital and perinatal malaria are acquired by the transmission of parasitized maternal erythrocytes across the placenta. An infant is described whose mother was diagnosed to have malaria at six months of gestation. The infant developed intermittent fever at 5 weeks of age and presented with anemia and hepatosplenomegaly at 3 months of age at which time Plasmodium falciparum parasites were found on examination of thick smears of the infant's blood. IgG and IgM antimalarial antibodies were detected in maternal blood, but only IgG antibodies were found in the infant's blood at delivery and at the time of diagnosis. These transplacentally transmitted antibodies may afford transient protection for the infant and thus delay the onset of clinical manifestations. Due to the absence of an exoerythrocytic life cycle in congenitally acquired malaria, chloroquine is the drug of choice for treatment. Infections with chloroquine-resistant strains require multiple drug therapy.
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PMID:Congenital malaria due to Plasmodium falciparum. 700 57

Chronic lymphocytic leukaemia (CLL) is the most common form of adult leukaemia in Western countries. The diagnosis requires mature-appearing lymphocytes in the peripheral blood to >5 x 10(9)/L. The immunophenotype typically includes B cell antigens CD19, CD20 and CD23, low expression of surface immunoglobulin and CD5+, with other T cell antigens absent. Bone marrow biopsy, although not required for diagnosis, must show at least 30% lymphocytes. Cytogenetic abnormalities are frequent in patients with CLL, and may be associated with poor prognosis. Clinically, most patients are asymptomatic at presentation, with incidental lymphadenopathy and/or hepatosplenomegaly in the routine physical examination. Infections by opportunistic pathogens are the major cause of death. Aggressive transformation occurs in 10% of patients with CLL, most commonly prolymphocytic leukaemia (PLL) and Richter's syndrome. PLL de novo must be differentiated from PLL of an aggressive transformation. The incidences of autoimmune diseases and solid or haemopoietic secondary malignancies are increased in patients with CLL. Clinical stage is the strongest prognostic factor in CLL. There is no indication for early intervention. The current recommendation to start treatment includes disease-related symptoms, massive and/or progressive hepatosplenomegaly or lymphadenopathy, increasing bone marrow failure, autoimmune disease, and recurrent infections. Alkylating agents (e.g. chlorambucil) and nucleoside analogues (e.g. fludarabine) are the most active agents for CLL. Fludarabine induces higher response rates, but no improvement in overall survival has been observed. Fludarabine is the drug of choice for the majority of patients with CLL. Chlorambucil may be helpful for elderly patients with poor performance, and for patients who do not tolerate fludarabine. No drug combination is better than single agents. For patients refractory to initial treatment, referral to a clinical trial is the best choice. Other salvage therapy includes retreatment with the same initial agent (chlorambucil or fludarabine) if initial response was observed, or fludarabine for patients refractory to chlorambucil. Promising new approaches include cycle-active agents, nelarabine, biological therapy such as anti-CD52 monoclonal antibody, bone marrow transplantation, including the use of submyeloablative preparative regimens ('minitransplant') to induce graft-versus-leukaemia effect, and gene therapy. Prophylactic antibacterials and intravenous immunoglobulin should not be used routinely during supportive care. Epoetin may be helpful for patients who have anaemia without obvious cause. Assessment of response to therapy in CLL has been updated by the National Cancer Institute Working Group, and these guidelines are used worldwide for clinical trials.
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PMID:Management of chronic lymphocytic leukaemia. 1073 61

The global epidemic of HIV infection remains appalling. By 2001, there were an estimated 1.4 million HIV-infected children, with 4.5 million deaths. In the UK, paediatric cases are clustered around population centres where there are high concentrations of infected immigrant adults, and to a lesser extent, areas where IV drug abuse is common. The highest incidence remains in London and the southeast. With the national redistribution of immigrant and refugee families, any doctor in any specialty may expect to be involved with children who are HIV positive, or have clinical AIDS. The majority of children are infected vertically, i.e. infection of the infant from an infected mother in the pre-, peri-, or post-natal periods. Rates of transmission vary from 15-20% in the developed countries. Children with HIV infection may have their primary presentation to ENT doctors, who should have appropriate thresholds for suspecting the diagnosis. The most common presenting features include persistent generalised lymphadenopathy, hepatosplenomegaly, chronic/recurrent diarrhoea, poor growth, and fever. Fifteen to twenty percent of untreated children will present with an AIDS-defining illness by 12 months, typically with Pneumocystis pneumonia at approximately 3-4 months of age. Seventy percent of perinatally infected children will exhibit some signs or symptoms by 12 months Without treatment, the median age to progression to AIDS is approximately 6 years, and 25-30% will have died by this age. The median age of death is approximately 9 years. Children may also present with repeated/unusual ear infections, sinus disease (inc. mastoiditis), tonsillitis, orbital/peri-orbital cellulitis, oral candidiasis, and dental infections. Infections with streptococcus pneumoniae and group A streptococcus are common, and often progress to severe systemic infection with an appreciable mortality. Infections may be due to unusual pathogens such as Pseudomonas, 'typical' and atypical Mycobacteria, Candida, Aspergillus, etc. Fungal infections of the sinuses (inc. Aspergillus and Rhizopus spp.) may be particularly devastating, with rapid spread to involve bone and the central nervous system. Another classical presentation, which may present to ENT doctors, is that of bilateral parotid enlargement, especially in children who are 'slow progressors', many of whom also have Lymphoid Interstitial Pneumonitis (LIP). A major attitudinal change has occurred due to advances in 3 main areas: (i) the multidisciplinary management of the infected mother (inc. counselling, antenatal screening, elective caesarean section, advising against breast feeding, etc.), (ii) the prevention of vertical transmission, using anti-retroviral therapy to the infected mother during pregnancy, and to the potentially infected infant in the first weeks of life, and (iii) major advances due to the advent of highly active anti-retroviral treatment. With effective use of these measures, transmission rates may be reduced to <2%. None of the measures though, affect a cure, and it will still be many years before the development of effective vaccines. ENT doctors may be referred children already known to be HIV-positive. Knowing how to talk to infected children (and their parents) is full of potential pitfalls, and requires careful forethought. Many infection-control policies have required considerable rethinking due to the AIDS epidemic. This has especially been the case with respect to needle-stick injuries, post-exposure prophylaxis, sterilization and re-use of equipment, and safe approaches to surgery.
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PMID:HIV infection in children--impact upon ENT doctors. 1466 74

Haemophagocytic syndrome or haemophagocytic lymphohistiocytosis is a rare disease that is often fatal despite treatment. Haemophagocytic syndrome is caused by a dysregulation in natural killer T-cell function, resulting in activation and proliferation of lymphocytes or histiocytes with uncontrolled haemophagocytosis and cytokine overproduction. The syndrome is characterised by fever, hepatosplenomegaly, cytopenias, liver dysfunction, and hyperferritinaemia. Haemophagocytic syndrome can be either primary, with a genetic aetiology, or secondary, associated with malignancies, autoimmune diseases, or infections. Infections associated with haemophagocytic syndrome are most frequently caused by viruses, particularly Epstein-Barr virus (EBV). We present a case of EBV-associated haemophagocytic syndrome in a young adult with no known immunosuppression. We briefly review haemophagocytic syndrome and then discuss its associated infections, particularly EBV and other herpes viruses, HIV, influenza, parvovirus, and hepatitis viruses, as well as bacterial, fungal, and parasitic organisms.
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PMID:Infections associated with haemophagocytic syndrome. 1804 64

Infections acquired in utero or during the birth process are a significant cause of fetal and neonatal mortality and an important contributor to early and later childhood morbidity. Advances in ultrasound, invasive prenatal procedures and molecular diagnostics have allowed in utero evaluation and given rise to more timely and accurate diagnosis in infected fetuses. Transplacental transmission of the infectious agent, even in subclinical maternal infection, may result in a severe congenital syndrome. Prenatal detection of infection is based on fetal sonographic findings and polymerase chain reaction to identify the specific agent. Nevertheless, most affected fetuses appear sonographically normal, but serial scanning may reveal evolving findings. Sonographic fetal abnormalities may be indicative of fetal infections, although they are generally not sensitive or specific. These include growth restriction, hydrops, ventriculomegaly, hydrocephaly, microcephaly, intracranial or hepatic calcifications, ascites, hepatosplenomegaly, echogenic bowel, placentomegaly, and abnormal amniotic fluid volume. When abnormalities are detected on ultrasound, a thorough fetal evaluation is recommended because of potential multiorgan involvement. The sonologist should understand the limitations of ultrasound. Patients should be counseled that ultrasound is not a sensitive test for fetal infection and that a normal fetal anatomy survey cannot reliably predict a favorable outcome.
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PMID:[Ultrasound findings in fetal infection]. 1897 30

Systemic onset juvenile idiopathic arthritis (SoJIA) is characterized by arthritis, fever and visceral organ involvement including hepatosplenomegaly, lympadenopathy and serositis. This is a case of SoJIA misdiagnosed as Kawasaki disease (KD) and developed machrophage activation syndrome (MAS) secondary to Ebstein-Barr virus (EBV) infection. It is presented to point out the conditions that may come along. First of all, SoJIA should be kept in mind while making the differential diagnosis of coronary arterial ectasias and dilatations usually seen in vasculitic diseases like KD. Second, as a very fatal complication MAS should always be considered while following a patient with the diagnosis of SoJIA. Infections like EBV may be the potential triggers for development of MAS especially in immunesupressed patients.
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PMID:Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome and coronary artery dilatation misdiagnosed as Kawasaki disease. 2898 Aug 95

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening, hyperinflammatory syndrome, characterized by the uncontrolled activation of macrophages and T cells, eliciting key symptoms such as persistent fever, hepatosplenomegaly, pancytopenia, hemophagocytosis, hyperferritinemia, and coagulopathy. Viral infections are frequently implicated in the onset of active HLH episodes, both in primary, genetic HLH as in the secondary, acquired form. Infections with herpesviruses such as Epstein-Barr virus and cytomegalovirus are the most common. In autoimmune diseases, a link between viral infections and autoreactive immune responses has been recognized for a considerable time. However, the mechanisms by which viruses contribute to HLH pathogenesis remain to be clarified. In this viewpoint, different factors that may come into play are discussed. Viruses, particularly larger DNA viruses such as herpesviruses, are potent modulators of the immune response. By evading immune recognition, interfering with cytokine balances and inhibiting apoptotic pathways, viruses may increase the host's susceptibility to HLH development. In particular cases, a direct connection between the viral infection and inhibition of natural killer cell or T cell cytotoxicity was reported, indicating that viruses may create immunological deficiencies reminiscent of primary HLH.
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PMID:How Viruses Contribute to the Pathogenesis of Hemophagocytic Lymphohistiocytosis. 2893 12