1/12. The prophylaxis of acute rheumatic fever in a pair of monozygotic twins. The public health implications.Recurrent acute rheumatic fever and rheumatic heart disease can be prevented by antibiotic intervention. We report the case of genetically identical twins, one of whom had overt rheumatic fever, received penicillin prophylaxis and did not have rheumatic heart disease. The other must have had inapparent rheumatic fever, received no chemotherapy prophylaxis and proceeded to develop rheumatic heart disease. A greater clinical and laboratory vigilance is required for the diagnosis of acute rheumatic fever in the asymptomatic identical twin of a patient with rheumatic fever. This case provides further evidence of a genetic predisposition to rheumatic fever and demonstrates the continued value of penicillin in the prophylaxis of acute rheumatic fever. It emphasises the need to maintain the integrity of preventive programmes against rheumatic fever worldwide. Studies which explore the HLA and other genetic linkages with rheumatic fever should be encouraged.- - - - - - - - - - ranking = 1keywords = fever (Clic here for more details about this article) |
2/12. Unusual presentation of familial mediterranean fever: role of genetic diagnosis.OBJECTIVE: To describe the role of molecular analysis in the diagnosis of an unusual presentation of familial mediterranean fever (FMF). CASE REPORT: Two patients presenting with prolonged fever without signs and symptoms of serositis are described. FMF was diagnosed by genetic analysis, which disclosed that both patients were homozygous for the M694V mutation of the Mediterranean fever (MEFV) gene. CONCLUSION: Molecular analysis of FMF should complement the investigation of patients with fever of unknown origin. This test enables a definite diagnosis of the disease and may promote the diagnosis and treatment of patients with an unusual or incomplete clinical picture of FMF.- - - - - - - - - - ranking = 0.61538461538462keywords = fever (Clic here for more details about this article) |
3/12. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.OBJECTIVE: To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease. methods: dna sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family. The TNFRSF1A gene was subsequently screened in 69 healthy Arab controls and 96 Caucasian controls. Formal forensic paternity testing was performed on the child. RESULTS: We found a de novo missense mutation in exon 3 of the TNFRSF1A gene, involving a novel C-->T transition encoding a Cys70Arg (C70R) variant, in the Israeli Arab patient. Eight of the common familial mediterranean fever (FMF) gene MEFV mutations were excluded. This mutation was not present in the parents or siblings, or among the 69 healthy Arab controls. However, another TNFRSF1A variant, Pro46Lys (P46L), was present in 1 of the Arab controls. CONCLUSION: We have identified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A variant, which is variably pathogenic in Caucasians, in an Arab control. This is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Arab population. These findings demonstrate the need to include TRAPS in the differential diagnosis of recurrent fevers in this population.- - - - - - - - - - ranking = 0.38461538461538keywords = fever (Clic here for more details about this article) |
4/12. familial mediterranean fever in 2 Japanese families.We describe 3 Japanese patients in 2 families with familial mediterranean fever (FMF) as determined by gene analysis. FMF is an ethnically related, genetic disease, occurring commonly in some Mediterranean populations. The FMF gene (MEFV) mutation found in our patients is M694I. The patients may be remote from East Asian extraction.- - - - - - - - - - ranking = 0.38461538461538keywords = fever (Clic here for more details about this article) |
5/12. crohn disease in patients with familial mediterranean fever.crohn disease and familial mediterranean fever (FMF) are inflammatory diseases characterized by abdominal pain and fever. The concurrence of the 2 diseases (FMF-CD) may pose a challenge to diagnosis and treatment. We undertook the present study to determine the prevalence of crohn disease in FMF and to characterize FMF-CD patients clinically and genetically. Using a computerized search, the patients of our FMF clinic were screened for a concomitant diagnosis of crohn disease. patients and their medical records were thoroughly examined, and their dna was genotyped for mutations in the MEFV gene. control groups of ethnically and sex-matched patients suffering from each of the diseases alone, either crohn disease or FMF, were used for comparison. We identified 7 patients with concomitant crohn disease and FMF, which is more than the expected prevalence in the general population (p = 0.03). crohn disease presented at a significantly later age in the FMF-CD group (40.6 /- 10.0 yr versus 26.2 /- 11.4 yr; p < 0.004). Disease severity and other characteristics of crohn disease were comparable to the crohn disease control group. Contrary to the FMF control group patients, FMF in FMF-CD patients was characterized by a higher attack frequency (p < 0.05) and increased prevalence of amyloidosis (p < 0.02). The overall severity score was similar in both groups. In conclusion, crohn disease appears to be more prevalent in FMF and presents later than in patients without FMF. FMF in this group of patients shows a higher attack frequency and is more often complicated by amyloidosis.- - - - - - - - - - ranking = 0.46153846153846keywords = fever (Clic here for more details about this article) |
6/12. propylthiouracil-induced lupus-like syndrome developing in a Graves' patient with a sibling with systemic lupus erythematosus.A 13-year-old girl with Graves' disease, whose younger sister had systemic lupus erythematosus, developed polyarthralgia, fever, neutropenia, hypergammaglobulinemia, and microscopic hematuria after treatment with propylthiouracil (PTU) for 2 years. Myeloperoxidase-anti-neutrophil cytoplasmic antibodies were strongly positive. Anti-single- and anti-double-stranded dna antibodies were positive, whereas LE cells and anti-Sm antibodies were negative. PTU was discontinued and all symptoms subsided gradually. Two years later, the microscopic hematuria had disappeared completely. Both patients had the identical HLA-DR alleles (HLA-DR9). These present two cases in siblings suggest that both sisters had lupus diathesis, and that the elder sister developed a PTU-induced lupus-like syndrome.- - - - - - - - - - ranking = 0.076923076923077keywords = fever (Clic here for more details about this article) |
7/12. Familial hemophagocytic lymphohistiocytosis: an autopsy study.We describe four classical cases of familial hemophagocytic lymphohistiocytosis (FHL), a macrophage-related, autosomal recessive fatal disorder. Parental consanguinity was present in three cases. All patients presented with fever, neurological involvement of varying degrees, hepatosplenomegaly, cytopenias, deranged liver function tests, and coagulogram, hypofibrinogenemia (three cases), and hyperlipidemia (one case). An antemortem diagnosis could not be made, although it was suspected in one case. Necropsy (done in three cases and postmortem liver biopsy in one case) revealed classical features of FHL. Florid lymphohistiocytic infiltrate exhibiting hemophagocytosis was seen in the bone marrow, liver, spleen, lymph nodes and brain (examined in two case). In addition to this, focal infiltrates were seen in the kidneys, lung, pancreas, testes, adrenals, and skin. Marked lymphoid depletion was seen in one case in the lymph nodes and spleen.- - - - - - - - - - ranking = 0.076923076923077keywords = fever (Clic here for more details about this article) |
8/12. Multicentric Castleman's disease associated with inherited epidermolysis bullosa.Multicentric Castleman's disease (MCD) is a rare disorder characterized by fever, polyclonal hypergammaglobulinemia, and generalized lymphadenopathy. It has three histological characteristics: a recognizable architecture, germinal center abnormalities, and plasmacytosis. Inherited epidermolysis bullosa (EB) is also a rare disorder caused by a genetic defect. We report a 43-year-old patient with dystrophic EB, non-Hallopeau-Siemens recessive type or dominant type, displaying clinicopathologic features of MCD. In addition, his serum interleukin-6, which is thought to be responsible for the clinical symptoms in MCD, was elevated.- - - - - - - - - - ranking = 0.076923076923077keywords = fever (Clic here for more details about this article) |
9/12. Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene.We describe the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis). All affected family members with CCAL experienced seizures in early childhood, usually, but not always, associated with fever. Similarities exist to the syndrome of generalized epilepsy with febrile seizures plus (GEFS ). A mutation within the ANKH gene on chromosome 5p has been found previously in this family; other patients with familial CCAL (but without seizures) have mutations in the same gene. ANKH codes for a transmembrane protein involved in the regulation of extracellular pyrophosphate ion levels, although its precise mechanism of action remains unclear. It is highly expressed in the brain, and its expression may be influenced by seizure activity. The mutation within this family creates a premature initiation codon, adding four amino acids to the N-terminus of the protein. We postulate that this may lead to a gain of function, causing seizure susceptibility as well as chondrocalcinosis. Mutations within this gene may underlie other forms of genetic epilepsy and febrile seizures.- - - - - - - - - - ranking = 0.076923076923077keywords = fever (Clic here for more details about this article) |
10/12. Conformational Asn187Asp/Lys antithrombin variants and thrombosis. Clinical and biological features in 13 new heterozygotes.Antithrombin Rouen VI (N187D) is a rare conformational thermolabile variant. The unique symptomatic carrier reported in the literature developed 3 thrombotic events during pregnancy, in each case in a context of pyrexial infection. In fresh plasma, antithrombin activity and antigen level were normal but in vitro experiments demonstrated the presence of a thermolabile variant, suggesting that fever could be a trigger for thrombosis in N187D carriers. The RouenVI variant was further found in two asymptomatic brothers. In these subjects, it was associated with normal antigen level but reduced activity. In order to better delineate the functional and clinical consequences of the N187 variants, we have studied a series of seven subjects from two distinct families heterozygous for the Rouen VI mutation. Antithrombin levels were normal or borderline in these patients. Thermostability of plasma antithrombin was normal. We have also studied six subjects heterozygous for a new mutation, 6462C>G,which results in an asparagine to lysine substitution at residue 187. In these patients, the N187K mutation is associated with a clear type II deficiency and decreased thermostability of the plasma protein has been demonstrated. That the N187D mutation has milder consequences on plasma antithrombin activity than the N187K mutation is in agreement with structural predictions. About 50% of the N187 carriers studied have suffered venous thrombotic events, strongly suggesting that both mutations are risk factors for thrombosis, but none occurred during pyrexial infections.- - - - - - - - - - ranking = 0.076923076923077keywords = fever (Clic here for more details about this article) |
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