1/87. Two separate episodes of hemophagocytic syndrome at a two-year interval in an apparently immunocompetent male.We describe two separate episodes of hemophagocytic syndrome (HPS) at an interval of two years in a seemingly immunocompetent male. This case suggests the possible existence of an inherent predisposition to HPS, in which otherwise negligible self-limited viral infection may trigger HPS. Laboratory data for a 16-year-old boy admitted with persistent high grade fever and severe thrombocytopenia disclosed coagulation abnormality, liver damage, and hypercytokinemia. A bone marrow aspiration revealed a proliferation of histiocytes with fresh hemophagocytosis. We diagnosed that he was suffering from HPS. Responding to steroid pulse therapy, he recovered completely and was discharged. After two years of healthy life, he became febrile again and was readmitted. The fever was refractory to antibiotics and was associated with a sudden drop in platelet count. Laboratory data and the bone marrow picture were consistent with those of HPS. He was again successfully treated with steroid. After the second episode, he has been healthy for more than two years.- - - - - - - - - - ranking = 1keywords = predisposition (Clic here for more details about this article) |
2/87. Familial ovarian germ cell cancer: report and review.Ovarian germ cell cancers are rare malignancies accounting for less than 5% of all ovarian cancers. We present a family in which three closely related women were diagnosed with ovarian germ cell malignancies. This family's cancer history prompted a family history investigation of women treated for ovarian germ cell malignancies in the Gynecologic-Oncology Clinic at the University of wisconsin. One of the eight patients whose family histories were reviewed had an uncle who had been diagnosed with testicular germ cell cancer. A review found six other previously reported families in which more than one relative had been diagnosed with a malignant ovarian germ cell tumor. Additionally, several cases of families with both males and females diagnosed with germ cell cancers have been documented. The low incidence of ovarian germ cell cancers suggests that multiple occurrences in the same family may not be due to chance. Rather, it is possible that a gene conferring susceptibility to ovarian germ cell cancers, and possibly to germ cell tumors in males as well, is present in at least some of these families.- - - - - - - - - - ranking = 0.99845493844885keywords = susceptibility (Clic here for more details about this article) |
3/87. Leukocyte functions in 2 cases of Papillon-Lefevre syndrome.AIM: To investigate the role of leukocytes in the pathogenesis of Papillon-Lefevre syndrome (PLS). methods: Peripheral blood polymorphonuclear neutrophils (PMNs), monocytes (MNs) and gingival crevicular fluid (GCF) were obtained from 2 cases of PLS with typical features. The chemotaxis of PMNs and MNs were evaluated using a modified Boyden chamber. The adherence of PMNs was determined by adherence of PMNs to petri dishes. interleukin-8 (IL-8) in GCF was detected by sandwich ELISA. Elastase activity in GCF was measured with a low molecular weight substrate (S-2484) specific for granulocyte elastase. RESULTS: PMNs from both patients showed depressed chemotactic response to FMLP and IL-8. Total amounts of IL-8 in GCF from the 2 patients were much higher than those of the normal controls. Elastase activity was not significantly different from that of the controls. The adherence of PMN and the chemotaxis of MN in the 2 patients were normal. CONCLUSION: The depressed chemotactic response of PMN leads to decreased recruitment of PMN and/or release of lysozyme from PMN in the diseased gingival tissue, increasing the susceptibility of PLS patients to periodontal infection.- - - - - - - - - - ranking = 0.99845493844885keywords = susceptibility (Clic here for more details about this article) |
4/87. Quinolones and tendon ruptures.We report two cases of tendon rupture associated with ciprofloxacin. One patient had a complete rupture of an achilles tendon 6 months after taking the medication. The other case involved a partial rupture of the subscapularis tendon. Both ruptures occurred with minimal mechanical stress on the tendons, suggesting that the fluoroquinolone increased the susceptibility to rupture. We also review the literature describing the association between fluoroquinolones and tendon rupture and discuss the mechanisms explaining the heightened risk of tendon rupture associated with these drugs.- - - - - - - - - - ranking = 0.99845493844885keywords = susceptibility (Clic here for more details about this article) |
5/87. malignant hyperthermia susceptibility revealed by myalgia and rhabdomyolysis during fluoroquinolone treatment.fluoroquinolones cause myalgia, but this complication is not clearly documented. We describe a patient who developed myalgia and rhabdomyolysis during fluoroquinolone treatment. The patient was a 33-year-old man treated with norfloxacin for common cystitis. He complained of general muscular fatigue, tendon disorders, and articular pain during treatment. When the antimicrobial agent was stopped, symptoms decreased, with persistence of slight myalgia for 10 days. rhabdomyolysis was detected. Six months later, investigation by 31P magnetic resonance spectroscopy revealed an oxidative disorder and an abnormal abundance of phosphomonoesters. in vitro contracture tests led to a diagnosis of malignant hyperthermia susceptibility. Our case shows that for any subject presenting myalgia with rhabdomyolysis triggered by fluoroquinolone treatment, the presence of a latent myopathy should be investigated.- - - - - - - - - - ranking = 4.9922746922443keywords = susceptibility (Clic here for more details about this article) |
6/87. oral manifestations of congenital neutropenia or Kostmann syndrome.Infantile congenital agranulocytosis or Kostmann syndrome is a rare hereditary kind of severe neutropenia. The typical symptoms, which appear since the first days of life, are abscesses located on various parts of the body: ear, cutis, lung and oral cavity. These abscesses are due to an almost total disimmunity typical of the neutropenia. The aim of this article is to describe the most typical signs of this pathology in the oral cavity, reporting a case observed in our department in Florence, italy. On the basis of the personally observed case and of the review of the literature, it is possible to consider, as a characteristic finding in Kostmann syndrome, a typical very serious periodontal pathology, which is similar to the prepubertal periodontitis in deciduous dentition. At the age of 19 years the patient showed a dramatic compromise of the masticatory function. It is obvious that the lack of response of the host can obstruct the interaction between the host and the microbic flora, because the lack of neutrophils increases the susceptibility of the patient to every kind of infection, even to periodontitis. A periodontal prophylaxis, since the very first observations, followed by a rigorous maintenance with frequent and regular professional hygienic treatments could be effective in controlling the effects of periodontal disease and could reduce the tragic evolution. We need to recognise that it could be hard to monitor the oral situation correctly in these patients, as they have a continuously poor systemic condition. Finally in these cases the rehabilitative therapy is very problematical.- - - - - - - - - - ranking = 0.99845493844885keywords = susceptibility (Clic here for more details about this article) |
7/87. The long-term course of seizure susceptibility in two patients with juvenile myoclonic epilepsy.We have observed epileptic seizures of juvenile myoclonic epilepsy (JME) to be surprisingly sensitive to higher mental activity. The purpose of the present study was to examine changes over time in seizure susceptibility in two patients with JME who we followed-up for over 20 years. During the period, they were repeatedly subjected to provocative cognitive tasking, that is, to 'neuropsychological EEG activation'. Tasks included reading, speaking, writing, written arithmetic, mental calculation, and spatial construction.During the first 15 years after the onset of symptoms, higher mental activities, mainly associated with use of the hands, i.e. writing, written calculation, and spatial construction, as well as physiological factors, such as sleep deprivation, awakening, and fatigue, precipitated the seizures. Generalized tonic-clonic and absence seizures but not myoclonic seizures disappeared almost completely after antiepileptic treatment. After age 30, the provocative effect of higher mental activities persisted, and the myoclonic seizures decreased under same drug regimen. These observations suggest that the pathophysiology of JME improves with time but persists for a long time, and that it is closely related to a neural network involved in higher mental activities mainly associated with use of the hands rather than in physiological factors emphasized in prior reports.- - - - - - - - - - ranking = 4.9922746922443keywords = susceptibility (Clic here for more details about this article) |
8/87. Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of unknown etiology in which increased susceptibility to viral, bacterial, and mycotic infections has been observed. We report an infant with KID syndrome who died from overwhelming systemic infection. To date, investigations into the immune function of patients with this syndrome have not revealed a common underlying systemic immune deficit. However, the severity of infections and multiplicity of organisms observed in this syndrome suggest that a primary immunodeficiency is present in addition to an impaired cutaneous barrier to microorganisms.- - - - - - - - - - ranking = 0.99845493844885keywords = susceptibility (Clic here for more details about this article) |
9/87. No response to trigger agents in a malignant hyperthermia-susceptible patient.malignant hyperthermia susceptibility is an inherited disorder, where a life-threatening condition can result from exposure to a trigger agent or agents. succinylcholine and volatile anaesthetic agents are well established to be trigger agents in anaesthetic practice. We describe a case of a previously investigated malignant hyperthermia-susceptible patient who did not declare his status and was exposed to both succinylcholine and isoflurane, without any detectable reaction. Possible explanations for the lack of reaction include a subnormal temperature when exposed to isoflurane, and a significant interval between exposure to succinylcholine and isoflurane. Absence of a reaction to trigger agents on this occasion is not thought to indicate an incorrect diagnosis and labelling.- - - - - - - - - - ranking = 0.99845493844885keywords = susceptibility (Clic here for more details about this article) |
10/87. Mesenteric ischemia affects young adults with predisposition.An 8-year retrospective review of indiana University hospital records consisting of any patient age 18 to 40 years old who presented with arterial mesenteric ischemia was performed. Three patients were identified that met our criteria. The first patient was discovered to have a protein c deficiency. The second patient was afflicted with afibrinoginemia, a protein C and an antithrombin iii deficiency. The third patient had been previously diagnosed with Takayasu's arteritis and had an elevated ESR. Each patient had a protracted course of symptoms before mesenteric disease was considered, confirmed by angiography, and treated by arterial bypass with/without bowel resection. All patients survived and are currently asymptomatic at an average of 2 years postoperatively. Mesenteric ischemia in patients under the age of 40, especially in the absence of cocaine use, is rare and often causes a delay in diagnosis and appropriate treatment. The high incidence of hypercoagulable states in our study cases suggests the need for a search for such disorders and the possible need for long-term anticoagulation therapy as a deterrent to recurrence.- - - - - - - - - - ranking = 4keywords = predisposition (Clic here for more details about this article) |
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