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)

Immunoblastic lymphadenopathy was first described in the german literature in 1975 by Lennert as "Lymphogranulomatosis X." The disease is characterized by generalized lymphadenopathy, hepatosplenomegaly, dysproteinemia, fever and hyperergic reactions such as pruritus, skin rush and eosinophilia. The first ORL occurrence of the disease in Waldeyer's ring and cervical lymph nodes is reported. The histologic picture is characterized by a vascular proliferation with immunoblasts, plasma cells and interstitial amorphous acidophilic material but without Sternberg cells. The origin of the disease from primary malignant neoplasia or hyperergic reactions has not yet been defined. Although prognosis is uncertain and therapy limited, the best management involves small doses of corticoids, supplemented by antibiotics.
HNO 1978 Sep
PMID:[Head and neck manifestations of lymphogranulomatosis X (author's transl)]. 70 Nov 5

The general clinical and pathological findings of angio-immunoblastic lymphadenopathy are reviewed and illustrated by a case-report with involvement of the tonsils. Our patient showed all the characteristic signs of this disease, including fever, pruritus, rash, generalized lymphadenopathy and hepatosplenomegaly. Histologically the wellknown triad of arborizing postcapillary vessels, proliferation of immunoblasts and plasma-cells, as well as deposition of PAS-positive interstitial material was found. Laboratory findings included a polyclonal hyperglobulinemia and a hemolytic anemia. Treatment consisted of corticosteroids and supportive medications. The prognosis is generally poor, with a median survival of 13 months. At present, the cause is unknown.
HNO 1979 Jan
PMID:[Angio-immunoblastic lymphadenopathy (author's transl)]. 75 11

The primary infection with Epstein-Barr virus in an immunocompetent individual leads to infectious mononucleosis with symptoms of diphtheroid angina, lymph node swelling in the neck and hepatosplenomegaly. The most common age of infection lies between 15 and 25 years. The illness can affect a number of organs simultaneously and thus requires interdisciplinary diagnostics. For differential diagnosis, a differential blood analysis and a EBV quick test are required. The presence of IgM antibodies demonstrates the presence of the infection. Ultrasound of the abdomen can be made to determine the involvement of additional organs. In most cases, recovery occurs without complications. Acute cases can usually be handled successfully with medication. If symptomatic treatment fails, pharyngeal airway obstruction is possible and a tonsillectomy may be necessary. Otherwise, surgical treatment is obsolete. Generally, the prognosis is good. Severe courses and complications are rare.
HNO 2005 Apr
PMID:[Infectious mononucleosis]. 1565 47

Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in the Western World. It belongs to the low-grade non-Hodgkin lymphomas and is characterized by clonal reproduction of mature small-cell non-functional B-lymphocytes. CLL affects men somewhat more often than women and the average age at onset is over 50 years. In addition to regional lymph node swelling, typical symptoms include hepatosplenomegaly, leukocytosis and skin disorders such as eczema and pruritus. Manifestations in the oropharynx or hypopharynx are rare but should be kept in mind in the differential diagnosis.
HNO 2012 Apr
PMID:[Reduced vocal cord movement and hypopharyngeal tumor]. 2173 80

There are currently no effective vaccines for visceral leishmaniasis, the second most deadly parasitic infection in the world. Here, we describe a novel whole-cell vaccine approach using Leishmania infantum chagasi promastigotes treated with the psoralen compound amotosalen (S-59) and low doses of UV A radiation. This treatment generates permanent, covalent DNA cross-links within parasites and results in Leishmania organisms termed killed but metabolically active (KBMA). In this report, we characterize the in vitro growth characteristics of both KBMA L. major and KBMA L. infantum chagasi. Concentrations of S-59 that generate optimally attenuated parasites were identified. Like live L. infantum chagasi, KBMA L. infantum chagasi parasites were able to initially enter liver cells in vivo after intravenous infection. However, whereas live L. infantum chagasi infection leads to hepatosplenomegaly in mice after 6 months, KBMA L. infantum chagasi parasites were undetectable in the organs of mice at this time point. In vitro, KBMA L. infantum chagasi retained the ability to enter macrophages and induce nitric oxide production. These characteristics of KBMA L. infantum chagasi correlated with the ability to prophylactically protect mice via subcutaneous vaccination at levels similar to vaccination with live, virulent organisms. Splenocytes from mice vaccinated with either live L. infantum chagasi or KBMA L. infantum chagasi displayed similar cytokine patterns in vitro. These results suggest that KBMA technology is a potentially safe and effective novel vaccine strategy against the intracellular protozoan L. infantum chagasi. This approach may represent a new method for whole-cell vaccination against other complex intracellular pathogens.
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PMID:Killed but metabolically active Leishmania infantum as a novel whole-cell vaccine for visceral leishmaniasis. 2291 55

Lysinuric protein intolerance (LPI) is a rare autosomal recessive metabolic disorder, caused by defective transport of cationic amino acids at the basolateral membrane of epithelial cells, typically in intestines and kidneys. The SLC7A7 gene, mutated in LPI patients, encodes the light subunit (y+LAT1) of a member of the heterodimeric amino acid transporter family.The diagnosis of LPI is difficult due to unspecific clinical features: protein intolerance, failure to thrive and vomiting after weaning. Later on, patients may present delayed growth osteoporosis, hepatosplenomegaly, muscle hypotonia and life-threatening complications such as alveolar proteinosis, haemophagocytic lymphohistiocytosis and macrophage activation syndrome. Renal involvement is also a serious complication with tubular and more rarely, glomerular lesions that may lead to end-stage kidney disease (ESKD). We report six cases of LPI followed in three different French paediatric centres who presented LPI-related nephropathy during childhood. Four of them developed chronic kidney disease during follow-up, including one with ESKD. Five developed chronic tubulopathies and one a chronic glomerulonephritis. A histological pattern of membranoproliferative glomerulonephritis was first associated with a polyclonal immunoglobulin deposition, treated by immunosuppressive therapy. He then required a second kidney biopsy after a relapse of the nephrotic syndrome; the immunoglobulin deposition was then monoclonal (IgG1 kappa). This is the first observation of an evolution from a polyclonal to a monotypic immune glomerulonephritis. Immune dysfunction potentially attributable to nitric oxide overproduction secondary to arginine intracellular trapping is a debated complication in LPI. Our results suggest all LPI patients should be monitored for renal disease regularly.
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PMID:Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance. 2660 93

Persistent pulmonary hypertension of newborn (PPHN) is a very rare manifestation of congenital cytomegalovirus (CMV) infection. PPHN associated with CMV can be severe but is usually transient and responds well to antiviral therapy. We report a rare case of PPHN that occurred in the setting of fulminant congenital CMV infection and successful treatment with antiviral therapy along with review of the very few cases reported in literature. A male appropriate for gestational Age (AGA) newborn developed rapidly progressive respiratory distress starting at 11 hours of life requiring ventilatory support and 100% oxygen. He developed hypotension and wide difference between pre and postductal saturations. Echocardiography revealed findings consistent with severe PPHN. Examination also revealed multiple purpuric skin lesions and soft hepatosplenomegaly. MRI Brain showed intraventricular hemorrhage, bilateral periventricular calcification, bilateral cerebral and cerebellar intraparenchymal hemorrhage. Complete Cell Count (CBC) revealed severe thrombocytopenia and blood serum showed positive Immunoglobulin M (IgM) for CMV and Urinary CMV was positive by nucleic acid test. He was treated with ganciclovir, inhaled nitric oxide and inotropes. He recovered and was discharged on day 24 of life. Severe PPHN is a rare manifestation of congenital CMV infection and carries a high risk of morbidity and mortality. Congenital CMV should be considered in neonates with PPHN of unknown etiology. Early institution of antiviral therapy in these babies is associated with favorable outcome.
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PMID:Unusual complication of fulminant congenital cytomegalovirus infection. 2984 59