Cases reported "Disease Susceptibility"

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1/66. 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.
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ranking = 1
keywords = iga
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2/66. 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.
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ranking = 1
keywords = iga
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3/66. Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.

    Congenital plasminogen activator inhibitor-1 (PAI-1) deficiency is an extremely rare disorder characterized by a bleeding diathesis that begins in childhood due to hyperfibrinolysis as a result of decreased PAI-1 activity. We now present 4 unrelated pediatric cases of congenital PAI-1 deficiency. All 4 patients had a history of recurrent episodes of subcutaneous bleeding beginning in early childhood. These episodes were characterized by abnormal prolonged bleeding after trauma, tooth extraction, and surgical procedures, as well as by rebleeding following initial hemostasis. The 2 female patients both had symptoms compatible with hypermenorrhea. The family history was positive in 2 of the 4 patients. Hemostatic screening studies in all 4 patients revealed no abnormalities. Testing for factor xiii antigen, von willebrand factor antigen, ristocetin cofactor activity, alpha(2)-plasmin inhibitor (alpha2PI) activity, and plasminogen activity was normal. The euglobulin lysis times were shortened in all cases as compared with those in normal control subjects. None of the patients had elevated tissue plasminogen activator (tPA) antigen levels, but PAI activity was markedly decreased in all cases. Three of the patients also had reduced levels of PAI-1 antigen. There tended to be a reduction in tPA-PAI-1 complex in all cases. In addition, 2 patients had elevated PIC (plasmin-alpha2PI complex). Tourniquet tests were performed in 2 patients, with no appreciable rise in PAI-1 activity or PAI-1 antigen levels. The administration of tranexamic acid clearly improved hemorrhagic symptoms in these patients. We considered PAI-1 deficiency to be the likely etiology of the congenital bleeding diatheses in these 4 cases.
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ranking = 227.47110560994
keywords = deficiency
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4/66. Evolution of iga deficiency to IgG subclass deficiency and common variable immunodeficiency.

    FIRST REPORT: male child with repeated pulmonary infections from the age of 4 months. He was diagnosed as iga deficiency (undetectable IgA levels) at the age of 3 years, when he presented repeated bouts of pneumonia and tonsillitis. Several immunologic evaluations were made between the ages of 4 months and 8 years. At 8 years and 9 months, the diagnosis of iga deficiency was confirmed, and associated IgG2 and IgG4 deficiency (29.0 mg/dl y 0.01 mg/dl) with normal total IgG serum level was found. With the administration of intravenous gammaglobulin, the lung infections remitted and the subsequent clinical course has been uneventful up to now. SECOND REPORT: a boy with repeated infections since the age of 2 months. iga deficiency was diagnosed at 1 year 7 months (undetectable serum IgA levels). At age 51/2 years, his clinical course worsened and more serious infections appeared. A new immunologic study revealed iga deficiency associated with CD4 cell deficiency (432 cells/mm3) and normal CD3, CD19, and CD8 levels. Despite intensive antibiotic treatment and care, the child died. The findings suggest an association of iga deficiency and common variable immunodeficiency.
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ranking = 649.91744459984
keywords = deficiency
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5/66. Prepubertal periodontitis associated with chronic granulomatous disease.

    BACKGROUND: Generalised prepubertal periodontitis is a rare entity that is usually a consequence of severe systemic diseases. Chronic granulomatous disease is one of the extremely rare inherited immunodeficiency diseases, which predisposes the patient to recurrent severe bacterial and fungal infections. AIM: The purpose of this report is to describe a 5-year old male patient suffering from prepubertal periodontitis associated with chronic granulomatous disease, who was referred to the Department of Periodontology for treatment of severe gingival inflammation. methods: A detailed past history was obtained and thorough clinical and laboratory examinations were performed. RESULTS: Medical tests revealed the only immunodeficiency sign as the extremely low burst test result. The patient was diagnosed as having an autosomal recessive (AR) form of chronic granulomatous disease. He was put on prophylactic treatment with trimethoprim-sulfamethoxazole (TMP-SMX) and also a periodontal maintenance regimen with regular 1-month intervals. CONCLUSION: This case report emphasises the importance of the differential diagnosis of severe immunodeficiency in the background of prepubertal periodontitis.
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ranking = 97.487616689976
keywords = deficiency
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6/66. 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.
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ranking = 2
keywords = iga
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7/66. Immunologic and virologic analyses of an acutely hiv type 1-infected patient with extremely rapid disease progression.

    The immunologic and virologic factors that impact on the rate of disease progression after acute infection with human immunodeficiency virus (hiv) type 1 are poorly understood. A patient with an extraordinarily rapid disease course leading to AIDS-associated death within 6 months of infection was studied intensively for the presence of anti-hiv immune reactivities as well as changes in the genetic and biologic properties of virus isolates. Although altered humoral responses were evident, the most distinctive immunologic feature was a nearly complete absence of detectable hiv-specific CTL responses. In addition to a rapid decline in CD3 CD4 cells, elevated percentages of CD8 CD45RA and CD8 CD57 cells and diminished CD8 CD45R0 and CD8 CD28 cells were evident. Primary viral isolates recovered throughout the course of infection exhibited limited sequence diversity. Cloned viral envelopes were found to have unusually broad patterns of coreceptor usage for cell-cell fusion, although infectivity studies yielded no evidence of infection via these alternative receptors. The infectivity studies demonstrated that these isolates and their envelopes maintained an R5 phenotype throughout the course of disease. The absence of demonstrable anti-hiv CTL reactivities, coupled with a protracted course of seroconversion, highlights the importance of robust hiv-specific immune responses in the control of disease progression.
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ranking = 32.495872229992
keywords = deficiency
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8/66. Very low-density lipoprotein apolipoprotein b-100 turnover in glycogen storage disease type Ia (von Gierke disease).

    Mixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross-sectional studies have demonstrated increases in intermediate-density lipoproteins (IDLs) and reductions in lipoprotein lipase activity, no studies have investigated the dynamics of apolipoprotein b-100 (apo B) metabolism in GSD Ia. This study investigated apoB turnover in GSD Ia using an exogenous labelling method in one sib from a kinship with established GSD Ia. The study demonstrated normal hepatic secretion of very low-density lipoprotein (VLDL), but hypocatabolism of VLDL, probably due to lack of lipoprotein lipase activity. The production rate of IDL was slightly increased, but the turnover rate of low-density lipoprotein was normal. The findings suggest that, as well as a corn starch diet and dietary fat restriction, treatment of severe mixed hyperlipidaemia in GSD Ia and its attendant risk of pancreatitis should possibly involve fibrates that activate lipoprotein lipase and may enhance the clearance of IDL, rather than omega-3 fatty acids, which principally suppress hepatic secretion of VLDL.
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ranking = 2
keywords = iga
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9/66. 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.
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ranking = 33.495872229992
keywords = deficiency, iga
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10/66. 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.
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ranking = 1
keywords = iga
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